Name: rs34749971
Published: September 21, 2022
License: Open Access

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs34749971

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr5:157384940-157384963 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: del(A)₁₇ / del(A)₁₃ / del(A)₁₂ / d…
del(A)₁₇ / del(A)₁₃ / del(A)₁₂ / del(A)₁₁ / del(A)₁₀ / del(A)₉ / del(A)₇ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₅ / dup(A)₆ / dup(A)₇ / dup(A)₈ / dup(A)₉ / dup(A)₁₀ / dup(A)₁₁ / dup(A)₁₂ / dup(A)₁₇ / dup(A)₂₄
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₁₇=0.0000 (0/2970, ALFA)
del(A)₁₂=0.0000 (0/2970, ALFA)
del(A)₁₁=0.0000 (0/2970, ALFA) (+ 14 more)
del(A)₁₀=0.0000 (0/2970, ALFA)
del(A)₉=0.0000 (0/2970, ALFA)
del(A)₇=0.0000 (0/2970, ALFA)
del(A)₅=0.0000 (0/2970, ALFA)
del(A)₄=0.0000 (0/2970, ALFA)
delAAA=0.0000 (0/2970, ALFA)
delAA=0.0000 (0/2970, ALFA)
delA=0.0000 (0/2970, ALFA)
dupA=0.0000 (0/2970, ALFA)
dupAA=0.0000 (0/2970, ALFA)
dupAAA=0.0000 (0/2970, ALFA)
dup(A)₄=0.0000 (0/2970, ALFA)
dup(A)₅=0.0000 (0/2970, ALFA)
dup(A)₆=0.0000 (0/2970, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CYFIP2 : Intron Variant
NIPAL4-DT : Intron Variant
Publications: 0 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	2970	AAAAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
European	Sub	2026	AAAAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
African	Sub	690	AAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	16	AAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	674	AAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
East Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 1	Sub	28	AAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	104	AAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	10	AAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Other	Sub	112	AAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	2970	(A)₂₄=1.0000	del(A)₁₇=0.0000, del(A)₁₂=0.0000, del(A)₁₁=0.0000, del(A)₁₀=0.0000, del(A)₉=0.0000, del(A)₇=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₄=0.0000, dup(A)₅=0.0000, dup(A)₆=0.0000
Allele Frequency Aggregator	European	Sub	2026	(A)₂₄=1.0000	del(A)₁₇=0.0000, del(A)₁₂=0.0000, del(A)₁₁=0.0000, del(A)₁₀=0.0000, del(A)₉=0.0000, del(A)₇=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₄=0.0000, dup(A)₅=0.0000, dup(A)₆=0.0000
Allele Frequency Aggregator	African	Sub	690	(A)₂₄=1.000	del(A)₁₇=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₇=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000, dup(A)₆=0.000
Allele Frequency Aggregator	Other	Sub	112	(A)₂₄=1.000	del(A)₁₇=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₇=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000, dup(A)₆=0.000
Allele Frequency Aggregator	Latin American 2	Sub	104	(A)₂₄=1.000	del(A)₁₇=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₇=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000, dup(A)₆=0.000
Allele Frequency Aggregator	Latin American 1	Sub	28	(A)₂₄=1.00	del(A)₁₇=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₇=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00, dup(A)₆=0.00
Allele Frequency Aggregator	South Asian	Sub	10	(A)₂₄=1.0	del(A)₁₇=0.0, del(A)₁₂=0.0, del(A)₁₁=0.0, del(A)₁₀=0.0, del(A)₉=0.0, del(A)₇=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)₄=0.0, dup(A)₅=0.0, dup(A)₆=0.0
Allele Frequency Aggregator	Asian	Sub	0	(A)₂₄=0	del(A)₁₇=0, del(A)₁₂=0, del(A)₁₁=0, del(A)₁₀=0, del(A)₉=0, del(A)₇=0, del(A)₅=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0, dup(A)₄=0, dup(A)₅=0, dup(A)₆=0

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 5	NC_000005.10:g.157384947_157384963del
GRCh38.p14 chr 5	NC_000005.10:g.157384951_157384963del
GRCh38.p14 chr 5	NC_000005.10:g.157384952_157384963del
GRCh38.p14 chr 5	NC_000005.10:g.157384953_157384963del
GRCh38.p14 chr 5	NC_000005.10:g.157384954_157384963del
GRCh38.p14 chr 5	NC_000005.10:g.157384955_157384963del
GRCh38.p14 chr 5	NC_000005.10:g.157384957_157384963del
GRCh38.p14 chr 5	NC_000005.10:g.157384959_157384963del
GRCh38.p14 chr 5	NC_000005.10:g.157384960_157384963del
GRCh38.p14 chr 5	NC_000005.10:g.157384961_157384963del
GRCh38.p14 chr 5	NC_000005.10:g.157384962_157384963del
GRCh38.p14 chr 5	NC_000005.10:g.157384963del
GRCh38.p14 chr 5	NC_000005.10:g.157384963dup
GRCh38.p14 chr 5	NC_000005.10:g.157384962_157384963dup
GRCh38.p14 chr 5	NC_000005.10:g.157384961_157384963dup
GRCh38.p14 chr 5	NC_000005.10:g.157384960_157384963dup
GRCh38.p14 chr 5	NC_000005.10:g.157384959_157384963dup
GRCh38.p14 chr 5	NC_000005.10:g.157384958_157384963dup
GRCh38.p14 chr 5	NC_000005.10:g.157384957_157384963dup
GRCh38.p14 chr 5	NC_000005.10:g.157384956_157384963dup
GRCh38.p14 chr 5	NC_000005.10:g.157384955_157384963dup
GRCh38.p14 chr 5	NC_000005.10:g.157384954_157384963dup
GRCh38.p14 chr 5	NC_000005.10:g.157384953_157384963dup
GRCh38.p14 chr 5	NC_000005.10:g.157384952_157384963dup
GRCh38.p14 chr 5	NC_000005.10:g.157384947_157384963dup
GRCh38.p14 chr 5	NC_000005.10:g.157384940_157384963dup
GRCh37.p13 chr 5	NC_000005.9:g.156811955_156811971del
GRCh37.p13 chr 5	NC_000005.9:g.156811959_156811971del
GRCh37.p13 chr 5	NC_000005.9:g.156811960_156811971del
GRCh37.p13 chr 5	NC_000005.9:g.156811961_156811971del
GRCh37.p13 chr 5	NC_000005.9:g.156811962_156811971del
GRCh37.p13 chr 5	NC_000005.9:g.156811963_156811971del
GRCh37.p13 chr 5	NC_000005.9:g.156811965_156811971del
GRCh37.p13 chr 5	NC_000005.9:g.156811967_156811971del
GRCh37.p13 chr 5	NC_000005.9:g.156811968_156811971del
GRCh37.p13 chr 5	NC_000005.9:g.156811969_156811971del
GRCh37.p13 chr 5	NC_000005.9:g.156811970_156811971del
GRCh37.p13 chr 5	NC_000005.9:g.156811971del
GRCh37.p13 chr 5	NC_000005.9:g.156811971dup
GRCh37.p13 chr 5	NC_000005.9:g.156811970_156811971dup
GRCh37.p13 chr 5	NC_000005.9:g.156811969_156811971dup
GRCh37.p13 chr 5	NC_000005.9:g.156811968_156811971dup
GRCh37.p13 chr 5	NC_000005.9:g.156811967_156811971dup
GRCh37.p13 chr 5	NC_000005.9:g.156811966_156811971dup
GRCh37.p13 chr 5	NC_000005.9:g.156811965_156811971dup
GRCh37.p13 chr 5	NC_000005.9:g.156811964_156811971dup
GRCh37.p13 chr 5	NC_000005.9:g.156811963_156811971dup
GRCh37.p13 chr 5	NC_000005.9:g.156811962_156811971dup
GRCh37.p13 chr 5	NC_000005.9:g.156811961_156811971dup
GRCh37.p13 chr 5	NC_000005.9:g.156811960_156811971dup
GRCh37.p13 chr 5	NC_000005.9:g.156811955_156811971dup
GRCh37.p13 chr 5	NC_000005.9:g.156811948_156811971dup

Gene: CYFIP2, cytoplasmic FMR1 interacting protein 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CYFIP2 transcript variant 1	NM_001037333.3:c.3207+158… NM_001037333.3:c.3207+1588_3207+1604del	N/A	Intron Variant
CYFIP2 transcript variant 4	NM_001291721.2:c.3129+158… NM_001291721.2:c.3129+1588_3129+1604del	N/A	Intron Variant
CYFIP2 transcript variant 5	NM_001291722.2:c.3282+158… NM_001291722.2:c.3282+1588_3282+1604del	N/A	Intron Variant
CYFIP2 transcript variant 3	NM_014376.4:c.3207+1588_3… NM_014376.4:c.3207+1588_3207+1604del	N/A	Intron Variant
CYFIP2 transcript variant X1	XM_011534516.4:c.3207+158… XM_011534516.4:c.3207+1588_3207+1604del	N/A	Intron Variant
CYFIP2 transcript variant X2	XM_047417100.1:c.3207+158… XM_047417100.1:c.3207+1588_3207+1604del	N/A	Intron Variant
CYFIP2 transcript variant X3	XM_047417101.1:c.2994+158… XM_047417101.1:c.2994+1588_2994+1604del	N/A	Intron Variant
CYFIP2 transcript variant X4	XM_047417102.1:c.2841+158… XM_047417102.1:c.2841+1588_2841+1604del	N/A	Intron Variant

Gene: NIPAL4-DT, NIPAL4 divergent transcript (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
NIPAL4-DT transcript variant 1	NR_136204.1:n.	N/A	Intron Variant
NIPAL4-DT transcript variant 2	NR_136205.1:n.	N/A	Intron Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	(A)₂₄=	del(A)₁₇	del(A)₁₃	del(A)₁₂	del(A)₁₁	del(A)₁₀	del(A)₉	del(A)₇	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅	dup(A)₆	dup(A)₇	dup(A)₈	dup(A)₉	dup(A)₁₀	dup(A)₁₁	dup(A)₁₂	dup(A)₁₇	dup(A)₂₄
GRCh38.p14 chr 5	NC_000005.10:g.157384940_157384963=	NC_000005.10:g.157384947_157384963del	NC_000005.10:g.157384951_157384963del	NC_000005.10:g.157384952_157384963del	NC_000005.10:g.157384953_157384963del	NC_000005.10:g.157384954_157384963del	NC_000005.10:g.157384955_157384963del	NC_000005.10:g.157384957_157384963del	NC_000005.10:g.157384959_157384963del	NC_000005.10:g.157384960_157384963del	NC_000005.10:g.157384961_157384963del	NC_000005.10:g.157384962_157384963del	NC_000005.10:g.157384963del	NC_000005.10:g.157384963dup	NC_000005.10:g.157384962_157384963dup	NC_000005.10:g.157384961_157384963dup	NC_000005.10:g.157384960_157384963dup	NC_000005.10:g.157384959_157384963dup	NC_000005.10:g.157384958_157384963dup	NC_000005.10:g.157384957_157384963dup	NC_000005.10:g.157384956_157384963dup	NC_000005.10:g.157384955_157384963dup	NC_000005.10:g.157384954_157384963dup	NC_000005.10:g.157384953_157384963dup	NC_000005.10:g.157384952_157384963dup	NC_000005.10:g.157384947_157384963dup	NC_000005.10:g.157384940_157384963dup
GRCh37.p13 chr 5	NC_000005.9:g.156811948_156811971=	NC_000005.9:g.156811955_156811971del	NC_000005.9:g.156811959_156811971del	NC_000005.9:g.156811960_156811971del	NC_000005.9:g.156811961_156811971del	NC_000005.9:g.156811962_156811971del	NC_000005.9:g.156811963_156811971del	NC_000005.9:g.156811965_156811971del	NC_000005.9:g.156811967_156811971del	NC_000005.9:g.156811968_156811971del	NC_000005.9:g.156811969_156811971del	NC_000005.9:g.156811970_156811971del	NC_000005.9:g.156811971del	NC_000005.9:g.156811971dup	NC_000005.9:g.156811970_156811971dup	NC_000005.9:g.156811969_156811971dup	NC_000005.9:g.156811968_156811971dup	NC_000005.9:g.156811967_156811971dup	NC_000005.9:g.156811966_156811971dup	NC_000005.9:g.156811965_156811971dup	NC_000005.9:g.156811964_156811971dup	NC_000005.9:g.156811963_156811971dup	NC_000005.9:g.156811962_156811971dup	NC_000005.9:g.156811961_156811971dup	NC_000005.9:g.156811960_156811971dup	NC_000005.9:g.156811955_156811971dup	NC_000005.9:g.156811948_156811971dup
CYFIP2 transcript variant 2	NM_001037332.2:c.3207+1581=	NM_001037332.2:c.3207+1588_3207+1604del	NM_001037332.2:c.3207+1592_3207+1604del	NM_001037332.2:c.3207+1593_3207+1604del	NM_001037332.2:c.3207+1594_3207+1604del	NM_001037332.2:c.3207+1595_3207+1604del	NM_001037332.2:c.3207+1596_3207+1604del	NM_001037332.2:c.3207+1598_3207+1604del	NM_001037332.2:c.3207+1600_3207+1604del	NM_001037332.2:c.3207+1601_3207+1604del	NM_001037332.2:c.3207+1602_3207+1604del	NM_001037332.2:c.3207+1603_3207+1604del	NM_001037332.2:c.3207+1604del	NM_001037332.2:c.3207+1604dup	NM_001037332.2:c.3207+1603_3207+1604dup	NM_001037332.2:c.3207+1602_3207+1604dup	NM_001037332.2:c.3207+1601_3207+1604dup	NM_001037332.2:c.3207+1600_3207+1604dup	NM_001037332.2:c.3207+1599_3207+1604dup	NM_001037332.2:c.3207+1598_3207+1604dup	NM_001037332.2:c.3207+1597_3207+1604dup	NM_001037332.2:c.3207+1596_3207+1604dup	NM_001037332.2:c.3207+1595_3207+1604dup	NM_001037332.2:c.3207+1594_3207+1604dup	NM_001037332.2:c.3207+1593_3207+1604dup	NM_001037332.2:c.3207+1588_3207+1604dup	NM_001037332.2:c.3207+1581_3207+1604dup
CYFIP2 transcript variant 1	NM_001037333.1:c.3207+1581=	NM_001037333.1:c.3207+1588_3207+1604del	NM_001037333.1:c.3207+1592_3207+1604del	NM_001037333.1:c.3207+1593_3207+1604del	NM_001037333.1:c.3207+1594_3207+1604del	NM_001037333.1:c.3207+1595_3207+1604del	NM_001037333.1:c.3207+1596_3207+1604del	NM_001037333.1:c.3207+1598_3207+1604del	NM_001037333.1:c.3207+1600_3207+1604del	NM_001037333.1:c.3207+1601_3207+1604del	NM_001037333.1:c.3207+1602_3207+1604del	NM_001037333.1:c.3207+1603_3207+1604del	NM_001037333.1:c.3207+1604del	NM_001037333.1:c.3207+1604dup	NM_001037333.1:c.3207+1603_3207+1604dup	NM_001037333.1:c.3207+1602_3207+1604dup	NM_001037333.1:c.3207+1601_3207+1604dup	NM_001037333.1:c.3207+1600_3207+1604dup	NM_001037333.1:c.3207+1599_3207+1604dup	NM_001037333.1:c.3207+1598_3207+1604dup	NM_001037333.1:c.3207+1597_3207+1604dup	NM_001037333.1:c.3207+1596_3207+1604dup	NM_001037333.1:c.3207+1595_3207+1604dup	NM_001037333.1:c.3207+1594_3207+1604dup	NM_001037333.1:c.3207+1593_3207+1604dup	NM_001037333.1:c.3207+1588_3207+1604dup	NM_001037333.1:c.3207+1581_3207+1604dup
CYFIP2 transcript variant 1	NM_001037333.3:c.3207+1581=	NM_001037333.3:c.3207+1588_3207+1604del	NM_001037333.3:c.3207+1592_3207+1604del	NM_001037333.3:c.3207+1593_3207+1604del	NM_001037333.3:c.3207+1594_3207+1604del	NM_001037333.3:c.3207+1595_3207+1604del	NM_001037333.3:c.3207+1596_3207+1604del	NM_001037333.3:c.3207+1598_3207+1604del	NM_001037333.3:c.3207+1600_3207+1604del	NM_001037333.3:c.3207+1601_3207+1604del	NM_001037333.3:c.3207+1602_3207+1604del	NM_001037333.3:c.3207+1603_3207+1604del	NM_001037333.3:c.3207+1604del	NM_001037333.3:c.3207+1604dup	NM_001037333.3:c.3207+1603_3207+1604dup	NM_001037333.3:c.3207+1602_3207+1604dup	NM_001037333.3:c.3207+1601_3207+1604dup	NM_001037333.3:c.3207+1600_3207+1604dup	NM_001037333.3:c.3207+1599_3207+1604dup	NM_001037333.3:c.3207+1598_3207+1604dup	NM_001037333.3:c.3207+1597_3207+1604dup	NM_001037333.3:c.3207+1596_3207+1604dup	NM_001037333.3:c.3207+1595_3207+1604dup	NM_001037333.3:c.3207+1594_3207+1604dup	NM_001037333.3:c.3207+1593_3207+1604dup	NM_001037333.3:c.3207+1588_3207+1604dup	NM_001037333.3:c.3207+1581_3207+1604dup
CYFIP2 transcript variant 4	NM_001291721.2:c.3129+1581=	NM_001291721.2:c.3129+1588_3129+1604del	NM_001291721.2:c.3129+1592_3129+1604del	NM_001291721.2:c.3129+1593_3129+1604del	NM_001291721.2:c.3129+1594_3129+1604del	NM_001291721.2:c.3129+1595_3129+1604del	NM_001291721.2:c.3129+1596_3129+1604del	NM_001291721.2:c.3129+1598_3129+1604del	NM_001291721.2:c.3129+1600_3129+1604del	NM_001291721.2:c.3129+1601_3129+1604del	NM_001291721.2:c.3129+1602_3129+1604del	NM_001291721.2:c.3129+1603_3129+1604del	NM_001291721.2:c.3129+1604del	NM_001291721.2:c.3129+1604dup	NM_001291721.2:c.3129+1603_3129+1604dup	NM_001291721.2:c.3129+1602_3129+1604dup	NM_001291721.2:c.3129+1601_3129+1604dup	NM_001291721.2:c.3129+1600_3129+1604dup	NM_001291721.2:c.3129+1599_3129+1604dup	NM_001291721.2:c.3129+1598_3129+1604dup	NM_001291721.2:c.3129+1597_3129+1604dup	NM_001291721.2:c.3129+1596_3129+1604dup	NM_001291721.2:c.3129+1595_3129+1604dup	NM_001291721.2:c.3129+1594_3129+1604dup	NM_001291721.2:c.3129+1593_3129+1604dup	NM_001291721.2:c.3129+1588_3129+1604dup	NM_001291721.2:c.3129+1581_3129+1604dup
CYFIP2 transcript variant 5	NM_001291722.2:c.3282+1581=	NM_001291722.2:c.3282+1588_3282+1604del	NM_001291722.2:c.3282+1592_3282+1604del	NM_001291722.2:c.3282+1593_3282+1604del	NM_001291722.2:c.3282+1594_3282+1604del	NM_001291722.2:c.3282+1595_3282+1604del	NM_001291722.2:c.3282+1596_3282+1604del	NM_001291722.2:c.3282+1598_3282+1604del	NM_001291722.2:c.3282+1600_3282+1604del	NM_001291722.2:c.3282+1601_3282+1604del	NM_001291722.2:c.3282+1602_3282+1604del	NM_001291722.2:c.3282+1603_3282+1604del	NM_001291722.2:c.3282+1604del	NM_001291722.2:c.3282+1604dup	NM_001291722.2:c.3282+1603_3282+1604dup	NM_001291722.2:c.3282+1602_3282+1604dup	NM_001291722.2:c.3282+1601_3282+1604dup	NM_001291722.2:c.3282+1600_3282+1604dup	NM_001291722.2:c.3282+1599_3282+1604dup	NM_001291722.2:c.3282+1598_3282+1604dup	NM_001291722.2:c.3282+1597_3282+1604dup	NM_001291722.2:c.3282+1596_3282+1604dup	NM_001291722.2:c.3282+1595_3282+1604dup	NM_001291722.2:c.3282+1594_3282+1604dup	NM_001291722.2:c.3282+1593_3282+1604dup	NM_001291722.2:c.3282+1588_3282+1604dup	NM_001291722.2:c.3282+1581_3282+1604dup
CYFIP2 transcript variant 3	NM_014376.2:c.3207+1581=	NM_014376.2:c.3207+1588_3207+1604del	NM_014376.2:c.3207+1592_3207+1604del	NM_014376.2:c.3207+1593_3207+1604del	NM_014376.2:c.3207+1594_3207+1604del	NM_014376.2:c.3207+1595_3207+1604del	NM_014376.2:c.3207+1596_3207+1604del	NM_014376.2:c.3207+1598_3207+1604del	NM_014376.2:c.3207+1600_3207+1604del	NM_014376.2:c.3207+1601_3207+1604del	NM_014376.2:c.3207+1602_3207+1604del	NM_014376.2:c.3207+1603_3207+1604del	NM_014376.2:c.3207+1604del	NM_014376.2:c.3207+1604dup	NM_014376.2:c.3207+1603_3207+1604dup	NM_014376.2:c.3207+1602_3207+1604dup	NM_014376.2:c.3207+1601_3207+1604dup	NM_014376.2:c.3207+1600_3207+1604dup	NM_014376.2:c.3207+1599_3207+1604dup	NM_014376.2:c.3207+1598_3207+1604dup	NM_014376.2:c.3207+1597_3207+1604dup	NM_014376.2:c.3207+1596_3207+1604dup	NM_014376.2:c.3207+1595_3207+1604dup	NM_014376.2:c.3207+1594_3207+1604dup	NM_014376.2:c.3207+1593_3207+1604dup	NM_014376.2:c.3207+1588_3207+1604dup	NM_014376.2:c.3207+1581_3207+1604dup
CYFIP2 transcript variant 3	NM_014376.4:c.3207+1581=	NM_014376.4:c.3207+1588_3207+1604del	NM_014376.4:c.3207+1592_3207+1604del	NM_014376.4:c.3207+1593_3207+1604del	NM_014376.4:c.3207+1594_3207+1604del	NM_014376.4:c.3207+1595_3207+1604del	NM_014376.4:c.3207+1596_3207+1604del	NM_014376.4:c.3207+1598_3207+1604del	NM_014376.4:c.3207+1600_3207+1604del	NM_014376.4:c.3207+1601_3207+1604del	NM_014376.4:c.3207+1602_3207+1604del	NM_014376.4:c.3207+1603_3207+1604del	NM_014376.4:c.3207+1604del	NM_014376.4:c.3207+1604dup	NM_014376.4:c.3207+1603_3207+1604dup	NM_014376.4:c.3207+1602_3207+1604dup	NM_014376.4:c.3207+1601_3207+1604dup	NM_014376.4:c.3207+1600_3207+1604dup	NM_014376.4:c.3207+1599_3207+1604dup	NM_014376.4:c.3207+1598_3207+1604dup	NM_014376.4:c.3207+1597_3207+1604dup	NM_014376.4:c.3207+1596_3207+1604dup	NM_014376.4:c.3207+1595_3207+1604dup	NM_014376.4:c.3207+1594_3207+1604dup	NM_014376.4:c.3207+1593_3207+1604dup	NM_014376.4:c.3207+1588_3207+1604dup	NM_014376.4:c.3207+1581_3207+1604dup
CYFIP2 transcript variant X1	XM_005265883.1:c.3129+1581=	XM_005265883.1:c.3129+1588_3129+1604del	XM_005265883.1:c.3129+1592_3129+1604del	XM_005265883.1:c.3129+1593_3129+1604del	XM_005265883.1:c.3129+1594_3129+1604del	XM_005265883.1:c.3129+1595_3129+1604del	XM_005265883.1:c.3129+1596_3129+1604del	XM_005265883.1:c.3129+1598_3129+1604del	XM_005265883.1:c.3129+1600_3129+1604del	XM_005265883.1:c.3129+1601_3129+1604del	XM_005265883.1:c.3129+1602_3129+1604del	XM_005265883.1:c.3129+1603_3129+1604del	XM_005265883.1:c.3129+1604del	XM_005265883.1:c.3129+1604dup	XM_005265883.1:c.3129+1603_3129+1604dup	XM_005265883.1:c.3129+1602_3129+1604dup	XM_005265883.1:c.3129+1601_3129+1604dup	XM_005265883.1:c.3129+1600_3129+1604dup	XM_005265883.1:c.3129+1599_3129+1604dup	XM_005265883.1:c.3129+1598_3129+1604dup	XM_005265883.1:c.3129+1597_3129+1604dup	XM_005265883.1:c.3129+1596_3129+1604dup	XM_005265883.1:c.3129+1595_3129+1604dup	XM_005265883.1:c.3129+1594_3129+1604dup	XM_005265883.1:c.3129+1593_3129+1604dup	XM_005265883.1:c.3129+1588_3129+1604dup	XM_005265883.1:c.3129+1581_3129+1604dup
CYFIP2 transcript variant X2	XM_005265884.1:c.2982+1581=	XM_005265884.1:c.2982+1588_2982+1604del	XM_005265884.1:c.2982+1592_2982+1604del	XM_005265884.1:c.2982+1593_2982+1604del	XM_005265884.1:c.2982+1594_2982+1604del	XM_005265884.1:c.2982+1595_2982+1604del	XM_005265884.1:c.2982+1596_2982+1604del	XM_005265884.1:c.2982+1598_2982+1604del	XM_005265884.1:c.2982+1600_2982+1604del	XM_005265884.1:c.2982+1601_2982+1604del	XM_005265884.1:c.2982+1602_2982+1604del	XM_005265884.1:c.2982+1603_2982+1604del	XM_005265884.1:c.2982+1604del	XM_005265884.1:c.2982+1604dup	XM_005265884.1:c.2982+1603_2982+1604dup	XM_005265884.1:c.2982+1602_2982+1604dup	XM_005265884.1:c.2982+1601_2982+1604dup	XM_005265884.1:c.2982+1600_2982+1604dup	XM_005265884.1:c.2982+1599_2982+1604dup	XM_005265884.1:c.2982+1598_2982+1604dup	XM_005265884.1:c.2982+1597_2982+1604dup	XM_005265884.1:c.2982+1596_2982+1604dup	XM_005265884.1:c.2982+1595_2982+1604dup	XM_005265884.1:c.2982+1594_2982+1604dup	XM_005265884.1:c.2982+1593_2982+1604dup	XM_005265884.1:c.2982+1588_2982+1604dup	XM_005265884.1:c.2982+1581_2982+1604dup
CYFIP2 transcript variant X3	XM_005265885.1:c.3282+1581=	XM_005265885.1:c.3282+1588_3282+1604del	XM_005265885.1:c.3282+1592_3282+1604del	XM_005265885.1:c.3282+1593_3282+1604del	XM_005265885.1:c.3282+1594_3282+1604del	XM_005265885.1:c.3282+1595_3282+1604del	XM_005265885.1:c.3282+1596_3282+1604del	XM_005265885.1:c.3282+1598_3282+1604del	XM_005265885.1:c.3282+1600_3282+1604del	XM_005265885.1:c.3282+1601_3282+1604del	XM_005265885.1:c.3282+1602_3282+1604del	XM_005265885.1:c.3282+1603_3282+1604del	XM_005265885.1:c.3282+1604del	XM_005265885.1:c.3282+1604dup	XM_005265885.1:c.3282+1603_3282+1604dup	XM_005265885.1:c.3282+1602_3282+1604dup	XM_005265885.1:c.3282+1601_3282+1604dup	XM_005265885.1:c.3282+1600_3282+1604dup	XM_005265885.1:c.3282+1599_3282+1604dup	XM_005265885.1:c.3282+1598_3282+1604dup	XM_005265885.1:c.3282+1597_3282+1604dup	XM_005265885.1:c.3282+1596_3282+1604dup	XM_005265885.1:c.3282+1595_3282+1604dup	XM_005265885.1:c.3282+1594_3282+1604dup	XM_005265885.1:c.3282+1593_3282+1604dup	XM_005265885.1:c.3282+1588_3282+1604dup	XM_005265885.1:c.3282+1581_3282+1604dup
CYFIP2 transcript variant X4	XM_005265886.1:c.2799+1581=	XM_005265886.1:c.2799+1588_2799+1604del	XM_005265886.1:c.2799+1592_2799+1604del	XM_005265886.1:c.2799+1593_2799+1604del	XM_005265886.1:c.2799+1594_2799+1604del	XM_005265886.1:c.2799+1595_2799+1604del	XM_005265886.1:c.2799+1596_2799+1604del	XM_005265886.1:c.2799+1598_2799+1604del	XM_005265886.1:c.2799+1600_2799+1604del	XM_005265886.1:c.2799+1601_2799+1604del	XM_005265886.1:c.2799+1602_2799+1604del	XM_005265886.1:c.2799+1603_2799+1604del	XM_005265886.1:c.2799+1604del	XM_005265886.1:c.2799+1604dup	XM_005265886.1:c.2799+1603_2799+1604dup	XM_005265886.1:c.2799+1602_2799+1604dup	XM_005265886.1:c.2799+1601_2799+1604dup	XM_005265886.1:c.2799+1600_2799+1604dup	XM_005265886.1:c.2799+1599_2799+1604dup	XM_005265886.1:c.2799+1598_2799+1604dup	XM_005265886.1:c.2799+1597_2799+1604dup	XM_005265886.1:c.2799+1596_2799+1604dup	XM_005265886.1:c.2799+1595_2799+1604dup	XM_005265886.1:c.2799+1594_2799+1604dup	XM_005265886.1:c.2799+1593_2799+1604dup	XM_005265886.1:c.2799+1588_2799+1604dup	XM_005265886.1:c.2799+1581_2799+1604dup
CYFIP2 transcript variant X5	XM_005265887.1:c.2619+1581=	XM_005265887.1:c.2619+1588_2619+1604del	XM_005265887.1:c.2619+1592_2619+1604del	XM_005265887.1:c.2619+1593_2619+1604del	XM_005265887.1:c.2619+1594_2619+1604del	XM_005265887.1:c.2619+1595_2619+1604del	XM_005265887.1:c.2619+1596_2619+1604del	XM_005265887.1:c.2619+1598_2619+1604del	XM_005265887.1:c.2619+1600_2619+1604del	XM_005265887.1:c.2619+1601_2619+1604del	XM_005265887.1:c.2619+1602_2619+1604del	XM_005265887.1:c.2619+1603_2619+1604del	XM_005265887.1:c.2619+1604del	XM_005265887.1:c.2619+1604dup	XM_005265887.1:c.2619+1603_2619+1604dup	XM_005265887.1:c.2619+1602_2619+1604dup	XM_005265887.1:c.2619+1601_2619+1604dup	XM_005265887.1:c.2619+1600_2619+1604dup	XM_005265887.1:c.2619+1599_2619+1604dup	XM_005265887.1:c.2619+1598_2619+1604dup	XM_005265887.1:c.2619+1597_2619+1604dup	XM_005265887.1:c.2619+1596_2619+1604dup	XM_005265887.1:c.2619+1595_2619+1604dup	XM_005265887.1:c.2619+1594_2619+1604dup	XM_005265887.1:c.2619+1593_2619+1604dup	XM_005265887.1:c.2619+1588_2619+1604dup	XM_005265887.1:c.2619+1581_2619+1604dup
CYFIP2 transcript variant X1	XM_011534516.4:c.3207+1581=	XM_011534516.4:c.3207+1588_3207+1604del	XM_011534516.4:c.3207+1592_3207+1604del	XM_011534516.4:c.3207+1593_3207+1604del	XM_011534516.4:c.3207+1594_3207+1604del	XM_011534516.4:c.3207+1595_3207+1604del	XM_011534516.4:c.3207+1596_3207+1604del	XM_011534516.4:c.3207+1598_3207+1604del	XM_011534516.4:c.3207+1600_3207+1604del	XM_011534516.4:c.3207+1601_3207+1604del	XM_011534516.4:c.3207+1602_3207+1604del	XM_011534516.4:c.3207+1603_3207+1604del	XM_011534516.4:c.3207+1604del	XM_011534516.4:c.3207+1604dup	XM_011534516.4:c.3207+1603_3207+1604dup	XM_011534516.4:c.3207+1602_3207+1604dup	XM_011534516.4:c.3207+1601_3207+1604dup	XM_011534516.4:c.3207+1600_3207+1604dup	XM_011534516.4:c.3207+1599_3207+1604dup	XM_011534516.4:c.3207+1598_3207+1604dup	XM_011534516.4:c.3207+1597_3207+1604dup	XM_011534516.4:c.3207+1596_3207+1604dup	XM_011534516.4:c.3207+1595_3207+1604dup	XM_011534516.4:c.3207+1594_3207+1604dup	XM_011534516.4:c.3207+1593_3207+1604dup	XM_011534516.4:c.3207+1588_3207+1604dup	XM_011534516.4:c.3207+1581_3207+1604dup
CYFIP2 transcript variant X2	XM_047417100.1:c.3207+1581=	XM_047417100.1:c.3207+1588_3207+1604del	XM_047417100.1:c.3207+1592_3207+1604del	XM_047417100.1:c.3207+1593_3207+1604del	XM_047417100.1:c.3207+1594_3207+1604del	XM_047417100.1:c.3207+1595_3207+1604del	XM_047417100.1:c.3207+1596_3207+1604del	XM_047417100.1:c.3207+1598_3207+1604del	XM_047417100.1:c.3207+1600_3207+1604del	XM_047417100.1:c.3207+1601_3207+1604del	XM_047417100.1:c.3207+1602_3207+1604del	XM_047417100.1:c.3207+1603_3207+1604del	XM_047417100.1:c.3207+1604del	XM_047417100.1:c.3207+1604dup	XM_047417100.1:c.3207+1603_3207+1604dup	XM_047417100.1:c.3207+1602_3207+1604dup	XM_047417100.1:c.3207+1601_3207+1604dup	XM_047417100.1:c.3207+1600_3207+1604dup	XM_047417100.1:c.3207+1599_3207+1604dup	XM_047417100.1:c.3207+1598_3207+1604dup	XM_047417100.1:c.3207+1597_3207+1604dup	XM_047417100.1:c.3207+1596_3207+1604dup	XM_047417100.1:c.3207+1595_3207+1604dup	XM_047417100.1:c.3207+1594_3207+1604dup	XM_047417100.1:c.3207+1593_3207+1604dup	XM_047417100.1:c.3207+1588_3207+1604dup	XM_047417100.1:c.3207+1581_3207+1604dup
CYFIP2 transcript variant X3	XM_047417101.1:c.2994+1581=	XM_047417101.1:c.2994+1588_2994+1604del	XM_047417101.1:c.2994+1592_2994+1604del	XM_047417101.1:c.2994+1593_2994+1604del	XM_047417101.1:c.2994+1594_2994+1604del	XM_047417101.1:c.2994+1595_2994+1604del	XM_047417101.1:c.2994+1596_2994+1604del	XM_047417101.1:c.2994+1598_2994+1604del	XM_047417101.1:c.2994+1600_2994+1604del	XM_047417101.1:c.2994+1601_2994+1604del	XM_047417101.1:c.2994+1602_2994+1604del	XM_047417101.1:c.2994+1603_2994+1604del	XM_047417101.1:c.2994+1604del	XM_047417101.1:c.2994+1604dup	XM_047417101.1:c.2994+1603_2994+1604dup	XM_047417101.1:c.2994+1602_2994+1604dup	XM_047417101.1:c.2994+1601_2994+1604dup	XM_047417101.1:c.2994+1600_2994+1604dup	XM_047417101.1:c.2994+1599_2994+1604dup	XM_047417101.1:c.2994+1598_2994+1604dup	XM_047417101.1:c.2994+1597_2994+1604dup	XM_047417101.1:c.2994+1596_2994+1604dup	XM_047417101.1:c.2994+1595_2994+1604dup	XM_047417101.1:c.2994+1594_2994+1604dup	XM_047417101.1:c.2994+1593_2994+1604dup	XM_047417101.1:c.2994+1588_2994+1604dup	XM_047417101.1:c.2994+1581_2994+1604dup
CYFIP2 transcript variant X4	XM_047417102.1:c.2841+1581=	XM_047417102.1:c.2841+1588_2841+1604del	XM_047417102.1:c.2841+1592_2841+1604del	XM_047417102.1:c.2841+1593_2841+1604del	XM_047417102.1:c.2841+1594_2841+1604del	XM_047417102.1:c.2841+1595_2841+1604del	XM_047417102.1:c.2841+1596_2841+1604del	XM_047417102.1:c.2841+1598_2841+1604del	XM_047417102.1:c.2841+1600_2841+1604del	XM_047417102.1:c.2841+1601_2841+1604del	XM_047417102.1:c.2841+1602_2841+1604del	XM_047417102.1:c.2841+1603_2841+1604del	XM_047417102.1:c.2841+1604del	XM_047417102.1:c.2841+1604dup	XM_047417102.1:c.2841+1603_2841+1604dup	XM_047417102.1:c.2841+1602_2841+1604dup	XM_047417102.1:c.2841+1601_2841+1604dup	XM_047417102.1:c.2841+1600_2841+1604dup	XM_047417102.1:c.2841+1599_2841+1604dup	XM_047417102.1:c.2841+1598_2841+1604dup	XM_047417102.1:c.2841+1597_2841+1604dup	XM_047417102.1:c.2841+1596_2841+1604dup	XM_047417102.1:c.2841+1595_2841+1604dup	XM_047417102.1:c.2841+1594_2841+1604dup	XM_047417102.1:c.2841+1593_2841+1604dup	XM_047417102.1:c.2841+1588_2841+1604dup	XM_047417102.1:c.2841+1581_2841+1604dup

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

70 SubSNP, 43 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss42428063	Mar 14, 2006 (126)
2	HGSV	ss80264368	Sep 08, 2015 (146)
3	HGSV	ss81670508	Dec 14, 2007 (130)
4	GMI	ss288668195	May 04, 2012 (137)
5	GMI	ss288668196	May 04, 2012 (137)
6	EVA_UK10K_ALSPAC	ss1704936941	Apr 01, 2015 (144)
7	EVA_UK10K_TWINSUK	ss1704937045	Apr 01, 2015 (144)
8	EVA_UK10K_TWINSUK	ss1710239257	Apr 01, 2015 (144)
9	EVA_UK10K_TWINSUK	ss1710239259	Apr 01, 2015 (144)
10	EVA_UK10K_ALSPAC	ss1710239267	Apr 01, 2015 (144)
11	EVA_UK10K_ALSPAC	ss1710239268	Apr 01, 2015 (144)
12	SYSTEMSBIOZJU	ss2626183859	Nov 08, 2017 (151)
13	KCHEN_CANCERGENOMICS	ss2632441614	Oct 12, 2018 (152)
14	SWEGEN	ss2998080741	Nov 08, 2017 (151)
15	EVA_DECODE	ss3716052179	Jul 13, 2019 (153)
16	EVA_DECODE	ss3716052180	Jul 13, 2019 (153)
17	EVA_DECODE	ss3716052181	Jul 13, 2019 (153)
18	PACBIO	ss3785298562	Jul 13, 2019 (153)
19	PACBIO	ss3785298563	Jul 13, 2019 (153)
20	PACBIO	ss3790673932	Jul 13, 2019 (153)
21	PACBIO	ss3790673933	Jul 13, 2019 (153)
22	PACBIO	ss3795551021	Jul 13, 2019 (153)
23	PACBIO	ss3795551022	Jul 13, 2019 (153)
24	EVA	ss3829592894	Apr 26, 2020 (154)
25	GNOMAD	ss4132498331	Apr 26, 2021 (155)
26	GNOMAD	ss4132498332	Apr 26, 2021 (155)
27	GNOMAD	ss4132498333	Apr 26, 2021 (155)
28	GNOMAD	ss4132498334	Apr 26, 2021 (155)
29	GNOMAD	ss4132498335	Apr 26, 2021 (155)
30	GNOMAD	ss4132498336	Apr 26, 2021 (155)
31	GNOMAD	ss4132498337	Apr 26, 2021 (155)
32	GNOMAD	ss4132498338	Apr 26, 2021 (155)
33	GNOMAD	ss4132498339	Apr 26, 2021 (155)
34	GNOMAD	ss4132498340	Apr 26, 2021 (155)
35	GNOMAD	ss4132498341	Apr 26, 2021 (155)
36	GNOMAD	ss4132498342	Apr 26, 2021 (155)
37	GNOMAD	ss4132498343	Apr 26, 2021 (155)
38	GNOMAD	ss4132498344	Apr 26, 2021 (155)
39	GNOMAD	ss4132498345	Apr 26, 2021 (155)
40	GNOMAD	ss4132498346	Apr 26, 2021 (155)
41	GNOMAD	ss4132498347	Apr 26, 2021 (155)
42	GNOMAD	ss4132498348	Apr 26, 2021 (155)
43	GNOMAD	ss4132498349	Apr 26, 2021 (155)
44	GNOMAD	ss4132498350	Apr 26, 2021 (155)
45	GNOMAD	ss4132498351	Apr 26, 2021 (155)
46	GNOMAD	ss4132498352	Apr 26, 2021 (155)
47	GNOMAD	ss4132498353	Apr 26, 2021 (155)
48	GNOMAD	ss4132498354	Apr 26, 2021 (155)
49	TOMMO_GENOMICS	ss5174954306	Apr 26, 2021 (155)
50	TOMMO_GENOMICS	ss5174954307	Apr 26, 2021 (155)
51	TOMMO_GENOMICS	ss5174954308	Apr 26, 2021 (155)
52	TOMMO_GENOMICS	ss5174954309	Apr 26, 2021 (155)
53	TOMMO_GENOMICS	ss5174954310	Apr 26, 2021 (155)
54	TOMMO_GENOMICS	ss5174954311	Apr 26, 2021 (155)
55	HUGCELL_USP	ss5464371205	Oct 13, 2022 (156)
56	HUGCELL_USP	ss5464371206	Oct 13, 2022 (156)
57	HUGCELL_USP	ss5464371207	Oct 13, 2022 (156)
58	HUGCELL_USP	ss5464371208	Oct 13, 2022 (156)
59	HUGCELL_USP	ss5464371209	Oct 13, 2022 (156)
60	HUGCELL_USP	ss5464371210	Oct 13, 2022 (156)
61	TOMMO_GENOMICS	ss5712267065	Oct 13, 2022 (156)
62	TOMMO_GENOMICS	ss5712267066	Oct 13, 2022 (156)
63	TOMMO_GENOMICS	ss5712267067	Oct 13, 2022 (156)
64	TOMMO_GENOMICS	ss5712267068	Oct 13, 2022 (156)
65	TOMMO_GENOMICS	ss5712267069	Oct 13, 2022 (156)
66	TOMMO_GENOMICS	ss5712267070	Oct 13, 2022 (156)
67	EVA	ss5835886467	Oct 13, 2022 (156)
68	EVA	ss5835886468	Oct 13, 2022 (156)
69	EVA	ss5835886469	Oct 13, 2022 (156)
70	EVA	ss5855090083	Oct 13, 2022 (156)
71	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 16495934 (NC_000005.9:156811947::AAAA 840/3854) Row 16495935 (NC_000005.9:156811947::AAA 2002/3854) Row 16495936 (NC_000005.9:156811947:AAAAAAAAAAAA: 550/3854)	-	Oct 12, 2018 (152)
72	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 16495934 (NC_000005.9:156811947::AAAA 840/3854) Row 16495935 (NC_000005.9:156811947::AAA 2002/3854) Row 16495936 (NC_000005.9:156811947:AAAAAAAAAAAA: 550/3854)	-	Oct 12, 2018 (152)
73	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 16495934 (NC_000005.9:156811947::AAAA 840/3854) Row 16495935 (NC_000005.9:156811947::AAA 2002/3854) Row 16495936 (NC_000005.9:156811947:AAAAAAAAAAAA: 550/3854)	-	Oct 12, 2018 (152)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 209620037 (NC_000005.10:157384939::A 739/58666) Row 209620038 (NC_000005.10:157384939::AA 690/59140) Row 209620039 (NC_000005.10:157384939::AAA 19862/58990)...	-	Apr 26, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 209620037 (NC_000005.10:157384939::A 739/58666) Row 209620038 (NC_000005.10:157384939::AA 690/59140) Row 209620039 (NC_000005.10:157384939::AAA 19862/58990)...	-	Apr 26, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 209620037 (NC_000005.10:157384939::A 739/58666) Row 209620038 (NC_000005.10:157384939::AA 690/59140) Row 209620039 (NC_000005.10:157384939::AAA 19862/58990)...	-	Apr 26, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 209620037 (NC_000005.10:157384939::A 739/58666) Row 209620038 (NC_000005.10:157384939::AA 690/59140) Row 209620039 (NC_000005.10:157384939::AAA 19862/58990)...	-	Apr 26, 2021 (155)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 209620037 (NC_000005.10:157384939::A 739/58666) Row 209620038 (NC_000005.10:157384939::AA 690/59140) Row 209620039 (NC_000005.10:157384939::AAA 19862/58990)...	-	Apr 26, 2021 (155)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 209620037 (NC_000005.10:157384939::A 739/58666) Row 209620038 (NC_000005.10:157384939::AA 690/59140) Row 209620039 (NC_000005.10:157384939::AAA 19862/58990)...	-	Apr 26, 2021 (155)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 209620037 (NC_000005.10:157384939::A 739/58666) Row 209620038 (NC_000005.10:157384939::AA 690/59140) Row 209620039 (NC_000005.10:157384939::AAA 19862/58990)...	-	Apr 26, 2021 (155)
81	gnomAD - Genomes Submission ignored due to conflicting rows: Row 209620037 (NC_000005.10:157384939::A 739/58666) Row 209620038 (NC_000005.10:157384939::AA 690/59140) Row 209620039 (NC_000005.10:157384939::AAA 19862/58990)...	-	Apr 26, 2021 (155)
82	gnomAD - Genomes Submission ignored due to conflicting rows: Row 209620037 (NC_000005.10:157384939::A 739/58666) Row 209620038 (NC_000005.10:157384939::AA 690/59140) Row 209620039 (NC_000005.10:157384939::AAA 19862/58990)...	-	Apr 26, 2021 (155)
83	gnomAD - Genomes Submission ignored due to conflicting rows: Row 209620037 (NC_000005.10:157384939::A 739/58666) Row 209620038 (NC_000005.10:157384939::AA 690/59140) Row 209620039 (NC_000005.10:157384939::AAA 19862/58990)...	-	Apr 26, 2021 (155)
84	gnomAD - Genomes Submission ignored due to conflicting rows: Row 209620037 (NC_000005.10:157384939::A 739/58666) Row 209620038 (NC_000005.10:157384939::AA 690/59140) Row 209620039 (NC_000005.10:157384939::AAA 19862/58990)...	-	Apr 26, 2021 (155)
85	gnomAD - Genomes Submission ignored due to conflicting rows: Row 209620037 (NC_000005.10:157384939::A 739/58666) Row 209620038 (NC_000005.10:157384939::AA 690/59140) Row 209620039 (NC_000005.10:157384939::AAA 19862/58990)...	-	Apr 26, 2021 (155)
86	gnomAD - Genomes Submission ignored due to conflicting rows: Row 209620037 (NC_000005.10:157384939::A 739/58666) Row 209620038 (NC_000005.10:157384939::AA 690/59140) Row 209620039 (NC_000005.10:157384939::AAA 19862/58990)...	-	Apr 26, 2021 (155)
87	gnomAD - Genomes Submission ignored due to conflicting rows: Row 209620037 (NC_000005.10:157384939::A 739/58666) Row 209620038 (NC_000005.10:157384939::AA 690/59140) Row 209620039 (NC_000005.10:157384939::AAA 19862/58990)...	-	Apr 26, 2021 (155)
88	gnomAD - Genomes Submission ignored due to conflicting rows: Row 209620037 (NC_000005.10:157384939::A 739/58666) Row 209620038 (NC_000005.10:157384939::AA 690/59140) Row 209620039 (NC_000005.10:157384939::AAA 19862/58990)...	-	Apr 26, 2021 (155)
89	gnomAD - Genomes Submission ignored due to conflicting rows: Row 209620037 (NC_000005.10:157384939::A 739/58666) Row 209620038 (NC_000005.10:157384939::AA 690/59140) Row 209620039 (NC_000005.10:157384939::AAA 19862/58990)...	-	Apr 26, 2021 (155)
90	gnomAD - Genomes Submission ignored due to conflicting rows: Row 209620037 (NC_000005.10:157384939::A 739/58666) Row 209620038 (NC_000005.10:157384939::AA 690/59140) Row 209620039 (NC_000005.10:157384939::AAA 19862/58990)...	-	Apr 26, 2021 (155)
91	gnomAD - Genomes Submission ignored due to conflicting rows: Row 209620037 (NC_000005.10:157384939::A 739/58666) Row 209620038 (NC_000005.10:157384939::AA 690/59140) Row 209620039 (NC_000005.10:157384939::AAA 19862/58990)...	-	Apr 26, 2021 (155)
92	gnomAD - Genomes Submission ignored due to conflicting rows: Row 209620037 (NC_000005.10:157384939::A 739/58666) Row 209620038 (NC_000005.10:157384939::AA 690/59140) Row 209620039 (NC_000005.10:157384939::AAA 19862/58990)...	-	Apr 26, 2021 (155)
93	gnomAD - Genomes Submission ignored due to conflicting rows: Row 209620037 (NC_000005.10:157384939::A 739/58666) Row 209620038 (NC_000005.10:157384939::AA 690/59140) Row 209620039 (NC_000005.10:157384939::AAA 19862/58990)...	-	Apr 26, 2021 (155)
94	gnomAD - Genomes Submission ignored due to conflicting rows: Row 209620037 (NC_000005.10:157384939::A 739/58666) Row 209620038 (NC_000005.10:157384939::AA 690/59140) Row 209620039 (NC_000005.10:157384939::AAA 19862/58990)...	-	Apr 26, 2021 (155)
95	gnomAD - Genomes Submission ignored due to conflicting rows: Row 209620037 (NC_000005.10:157384939::A 739/58666) Row 209620038 (NC_000005.10:157384939::AA 690/59140) Row 209620039 (NC_000005.10:157384939::AAA 19862/58990)...	-	Apr 26, 2021 (155)
96	gnomAD - Genomes Submission ignored due to conflicting rows: Row 209620037 (NC_000005.10:157384939::A 739/58666) Row 209620038 (NC_000005.10:157384939::AA 690/59140) Row 209620039 (NC_000005.10:157384939::AAA 19862/58990)...	-	Apr 26, 2021 (155)
97	gnomAD - Genomes Submission ignored due to conflicting rows: Row 209620037 (NC_000005.10:157384939::A 739/58666) Row 209620038 (NC_000005.10:157384939::AA 690/59140) Row 209620039 (NC_000005.10:157384939::AAA 19862/58990)...	-	Apr 26, 2021 (155)
98	8.3KJPN Submission ignored due to conflicting rows: Row 32923613 (NC_000005.9:156811947:AAAAAAAAAAAA: 3234/15068) Row 32923614 (NC_000005.9:156811947::AAA 5316/15068) Row 32923615 (NC_000005.9:156811947::AAAA 1082/15068)...	-	Apr 26, 2021 (155)
99	8.3KJPN Submission ignored due to conflicting rows: Row 32923613 (NC_000005.9:156811947:AAAAAAAAAAAA: 3234/15068) Row 32923614 (NC_000005.9:156811947::AAA 5316/15068) Row 32923615 (NC_000005.9:156811947::AAAA 1082/15068)...	-	Apr 26, 2021 (155)
100	8.3KJPN Submission ignored due to conflicting rows: Row 32923613 (NC_000005.9:156811947:AAAAAAAAAAAA: 3234/15068) Row 32923614 (NC_000005.9:156811947::AAA 5316/15068) Row 32923615 (NC_000005.9:156811947::AAAA 1082/15068)...	-	Apr 26, 2021 (155)
101	8.3KJPN Submission ignored due to conflicting rows: Row 32923613 (NC_000005.9:156811947:AAAAAAAAAAAA: 3234/15068) Row 32923614 (NC_000005.9:156811947::AAA 5316/15068) Row 32923615 (NC_000005.9:156811947::AAAA 1082/15068)...	-	Apr 26, 2021 (155)
102	8.3KJPN Submission ignored due to conflicting rows: Row 32923613 (NC_000005.9:156811947:AAAAAAAAAAAA: 3234/15068) Row 32923614 (NC_000005.9:156811947::AAA 5316/15068) Row 32923615 (NC_000005.9:156811947::AAAA 1082/15068)...	-	Apr 26, 2021 (155)
103	8.3KJPN Submission ignored due to conflicting rows: Row 32923613 (NC_000005.9:156811947:AAAAAAAAAAAA: 3234/15068) Row 32923614 (NC_000005.9:156811947::AAA 5316/15068) Row 32923615 (NC_000005.9:156811947::AAAA 1082/15068)...	-	Apr 26, 2021 (155)
104	14KJPN Submission ignored due to conflicting rows: Row 46104169 (NC_000005.10:157384939:AAAAAAAAAAAA: 5818/25732) Row 46104170 (NC_000005.10:157384939::AAA 11288/25732) Row 46104171 (NC_000005.10:157384939::AAAA 2054/25732)...	-	Oct 13, 2022 (156)
105	14KJPN Submission ignored due to conflicting rows: Row 46104169 (NC_000005.10:157384939:AAAAAAAAAAAA: 5818/25732) Row 46104170 (NC_000005.10:157384939::AAA 11288/25732) Row 46104171 (NC_000005.10:157384939::AAAA 2054/25732)...	-	Oct 13, 2022 (156)
106	14KJPN Submission ignored due to conflicting rows: Row 46104169 (NC_000005.10:157384939:AAAAAAAAAAAA: 5818/25732) Row 46104170 (NC_000005.10:157384939::AAA 11288/25732) Row 46104171 (NC_000005.10:157384939::AAAA 2054/25732)...	-	Oct 13, 2022 (156)
107	14KJPN Submission ignored due to conflicting rows: Row 46104169 (NC_000005.10:157384939:AAAAAAAAAAAA: 5818/25732) Row 46104170 (NC_000005.10:157384939::AAA 11288/25732) Row 46104171 (NC_000005.10:157384939::AAAA 2054/25732)...	-	Oct 13, 2022 (156)
108	14KJPN Submission ignored due to conflicting rows: Row 46104169 (NC_000005.10:157384939:AAAAAAAAAAAA: 5818/25732) Row 46104170 (NC_000005.10:157384939::AAA 11288/25732) Row 46104171 (NC_000005.10:157384939::AAAA 2054/25732)...	-	Oct 13, 2022 (156)
109	14KJPN Submission ignored due to conflicting rows: Row 46104169 (NC_000005.10:157384939:AAAAAAAAAAAA: 5818/25732) Row 46104170 (NC_000005.10:157384939::AAA 11288/25732) Row 46104171 (NC_000005.10:157384939::AAAA 2054/25732)...	-	Oct 13, 2022 (156)
110	UK 10K study - Twins Submission ignored due to conflicting rows: Row 16495934 (NC_000005.9:156811947::AAAA 789/3708) Row 16495935 (NC_000005.9:156811947::AAA 1911/3708) Row 16495936 (NC_000005.9:156811947:AAAAAAAAAAAA: 534/3708)	-	Oct 12, 2018 (152)
111	UK 10K study - Twins Submission ignored due to conflicting rows: Row 16495934 (NC_000005.9:156811947::AAAA 789/3708) Row 16495935 (NC_000005.9:156811947::AAA 1911/3708) Row 16495936 (NC_000005.9:156811947:AAAAAAAAAAAA: 534/3708)	-	Oct 12, 2018 (152)
112	UK 10K study - Twins Submission ignored due to conflicting rows: Row 16495934 (NC_000005.9:156811947::AAAA 789/3708) Row 16495935 (NC_000005.9:156811947::AAA 1911/3708) Row 16495936 (NC_000005.9:156811947:AAAAAAAAAAAA: 534/3708)	-	Oct 12, 2018 (152)
113	ALFA	NC_000005.10 - 157384940	Apr 26, 2021 (155)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID	History Updated (Build)
rs201038470	May 11, 2012 (137)
rs56688591	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
150128356	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAA	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAA	(self)
ss4132498354	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAA:	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss288668195	NC_000005.8:156744525:AAAAAAAAAAAA:	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss80264368	NC_000005.8:156744537:AAAAAAAAAAAA:	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss1704936941, ss1704937045, ss2626183859, ss2998080741, ss5174954306, ss5835886469	NC_000005.9:156811947:AAAAAAAAAAAA:	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss3716052181, ss4132498353, ss5464371210, ss5712267065, ss5855090083	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAA:	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
150128356	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss288668196	NC_000005.8:156744525:AAAAAAAAAAA:	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4132498352	NC_000005.10:157384939:AAAAAAAAAAA:	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
150128356	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss2632441614	NC_000005.10:157384940:AAAAAAAAAAA:	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4132498351	NC_000005.10:157384939:AAAAAAAAAA:	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
150128356	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4132498350	NC_000005.10:157384939:AAAAAAAAA:	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
150128356	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
150128356	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4132498349	NC_000005.10:157384939:AAAAA:	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
150128356	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4132498348	NC_000005.10:157384939:AAAA:	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
150128356	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4132498347	NC_000005.10:157384939:AAA:	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
150128356	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3785298562, ss3790673932, ss3795551021	NC_000005.9:156811947:AA:	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4132498346, ss5464371208	NC_000005.10:157384939:AA:	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
150128356	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3716052180	NC_000005.10:157384949:AA:	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4132498345, ss5464371209	NC_000005.10:157384939:A:	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
150128356	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4132498331	NC_000005.10:157384939::A	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
150128356	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5835886468	NC_000005.9:156811947::AA	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
ss4132498332, ss5464371205, ss5712267068	NC_000005.10:157384939::AA	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
150128356	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3785298563, ss3790673933, ss3795551022, ss5174954307, ss5835886467	NC_000005.9:156811947::AAA	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss1710239259, ss1710239268	NC_000005.9:156811959::AAA	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4132498333, ss5464371206, ss5712267066	NC_000005.10:157384939::AAA	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
150128356	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3716052179	NC_000005.10:157384951::AAA	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss42428063, ss81670508	NT_023133.13:1623244::AAA	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5174954308	NC_000005.9:156811947::AAAA	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss1710239257, ss1710239267	NC_000005.9:156811959::AAAA	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4132498334, ss5464371207, ss5712267067	NC_000005.10:157384939::AAAA	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
150128356	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3829592894, ss5174954310	NC_000005.9:156811947::AAAAA	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4132498335, ss5712267070	NC_000005.10:157384939::AAAAA	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
150128356	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5174954309	NC_000005.9:156811947::AAAAAA	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4132498336, ss5712267069	NC_000005.10:157384939::AAAAAA	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
150128356	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4132498337	NC_000005.10:157384939::AAAAAAA	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4132498338	NC_000005.10:157384939::AAAAAAAA	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5174954311	NC_000005.9:156811947::AAAAAAAAA	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4132498339	NC_000005.10:157384939::AAAAAAAAA	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4132498340	NC_000005.10:157384939::AAAAAAAAAA	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4132498341	NC_000005.10:157384939::AAAAAAAAAAA	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4132498342	NC_000005.10:157384939::AAAAAAAAAA… NC_000005.10:157384939::AAAAAAAAAAAA	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4132498343	NC_000005.10:157384939::AAAAAAAAAA… NC_000005.10:157384939::AAAAAAAAAAAAAAAAA	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4132498344	NC_000005.10:157384939::AAAAAAAAAA… NC_000005.10:157384939::AAAAAAAAAAAAAAAAAAAAAAAA	NC_000005.10:157384939:AAAAAAAAAAA… NC_000005.10:157384939:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs34749971

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
Top▲ Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs34749971