Name: rs60817387
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.

rs60817387

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr22:30399514-30399537 (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)₁₄ / del(A)₁₃ / del(A)₁₂ / d…
del(A)₁₄ / del(A)₁₃ / del(A)₁₂ / del(A)₁₁ / del(A)₁₀ / del(A)₉ / del(A)₈ / del(A)₇ / del(A)₆ / 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)₁₃ / dup(A)₁₄ / dup(A)₁₅ / dup(A)₁₆ / ins(A)₂₈
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₁₄=0.0000 (0/1446, ALFA)
del(A)₁₃=0.0000 (0/1446, ALFA)
del(A)₁₂=0.0000 (0/1446, ALFA) (+ 15 more)
del(A)₁₁=0.0000 (0/1446, ALFA)
del(A)₁₀=0.0000 (0/1446, ALFA)
del(A)₉=0.0000 (0/1446, ALFA)
del(A)₈=0.0000 (0/1446, ALFA)
del(A)₇=0.0000 (0/1446, ALFA)
del(A)₆=0.0000 (0/1446, ALFA)
del(A)₅=0.0000 (0/1446, ALFA)
del(A)₄=0.0000 (0/1446, ALFA)
delAAA=0.0000 (0/1446, ALFA)
delAA=0.0000 (0/1446, ALFA)
delA=0.0000 (0/1446, ALFA)
dupA=0.0000 (0/1446, ALFA)
dupAA=0.0000 (0/1446, ALFA)
dupAAA=0.0000 (0/1446, ALFA)
dup(A)₆=0.0000 (0/1446, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SEC14L2 : 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	1446	AAAAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
European	Sub	978	AAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African	Sub	342	AAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	20	AAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	322	AAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	4	AAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
East Asian	Sub	4	AAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Other Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 1	Sub	8	AAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 2	Sub	64	AAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	2	AAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Other	Sub	48	AAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	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	1446	(A)₂₄=1.0000	del(A)₁₄=0.0000, del(A)₁₃=0.0000, del(A)₁₂=0.0000, del(A)₁₁=0.0000, del(A)₁₀=0.0000, del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=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)₆=0.0000
Allele Frequency Aggregator	European	Sub	978	(A)₂₄=1.000	del(A)₁₄=0.000, del(A)₁₃=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=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)₆=0.000
Allele Frequency Aggregator	African	Sub	342	(A)₂₄=1.000	del(A)₁₄=0.000, del(A)₁₃=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=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)₆=0.000
Allele Frequency Aggregator	Latin American 2	Sub	64	(A)₂₄=1.00	del(A)₁₄=0.00, del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=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)₆=0.00
Allele Frequency Aggregator	Other	Sub	48	(A)₂₄=1.00	del(A)₁₄=0.00, del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=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)₆=0.00
Allele Frequency Aggregator	Latin American 1	Sub	8	(A)₂₄=1.0	del(A)₁₄=0.0, del(A)₁₃=0.0, del(A)₁₂=0.0, del(A)₁₁=0.0, del(A)₁₀=0.0, del(A)₉=0.0, del(A)₈=0.0, del(A)₇=0.0, del(A)₆=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)₆=0.0
Allele Frequency Aggregator	Asian	Sub	4	(A)₂₄=1.0	del(A)₁₄=0.0, del(A)₁₃=0.0, del(A)₁₂=0.0, del(A)₁₁=0.0, del(A)₁₀=0.0, del(A)₉=0.0, del(A)₈=0.0, del(A)₇=0.0, del(A)₆=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)₆=0.0
Allele Frequency Aggregator	South Asian	Sub	2	(A)₂₄=1.0	del(A)₁₄=0.0, del(A)₁₃=0.0, del(A)₁₂=0.0, del(A)₁₁=0.0, del(A)₁₀=0.0, del(A)₉=0.0, del(A)₈=0.0, del(A)₇=0.0, del(A)₆=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)₆=0.0

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 22	NC_000022.11:g.30399524_30399537del
GRCh38.p14 chr 22	NC_000022.11:g.30399525_30399537del
GRCh38.p14 chr 22	NC_000022.11:g.30399526_30399537del
GRCh38.p14 chr 22	NC_000022.11:g.30399527_30399537del
GRCh38.p14 chr 22	NC_000022.11:g.30399528_30399537del
GRCh38.p14 chr 22	NC_000022.11:g.30399529_30399537del
GRCh38.p14 chr 22	NC_000022.11:g.30399530_30399537del
GRCh38.p14 chr 22	NC_000022.11:g.30399531_30399537del
GRCh38.p14 chr 22	NC_000022.11:g.30399532_30399537del
GRCh38.p14 chr 22	NC_000022.11:g.30399533_30399537del
GRCh38.p14 chr 22	NC_000022.11:g.30399534_30399537del
GRCh38.p14 chr 22	NC_000022.11:g.30399535_30399537del
GRCh38.p14 chr 22	NC_000022.11:g.30399536_30399537del
GRCh38.p14 chr 22	NC_000022.11:g.30399537del
GRCh38.p14 chr 22	NC_000022.11:g.30399537dup
GRCh38.p14 chr 22	NC_000022.11:g.30399536_30399537dup
GRCh38.p14 chr 22	NC_000022.11:g.30399535_30399537dup
GRCh38.p14 chr 22	NC_000022.11:g.30399534_30399537dup
GRCh38.p14 chr 22	NC_000022.11:g.30399533_30399537dup
GRCh38.p14 chr 22	NC_000022.11:g.30399532_30399537dup
GRCh38.p14 chr 22	NC_000022.11:g.30399531_30399537dup
GRCh38.p14 chr 22	NC_000022.11:g.30399530_30399537dup
GRCh38.p14 chr 22	NC_000022.11:g.30399529_30399537dup
GRCh38.p14 chr 22	NC_000022.11:g.30399528_30399537dup
GRCh38.p14 chr 22	NC_000022.11:g.30399527_30399537dup
GRCh38.p14 chr 22	NC_000022.11:g.30399526_30399537dup
GRCh38.p14 chr 22	NC_000022.11:g.30399525_30399537dup
GRCh38.p14 chr 22	NC_000022.11:g.30399524_30399537dup
GRCh38.p14 chr 22	NC_000022.11:g.30399523_30399537dup
GRCh38.p14 chr 22	NC_000022.11:g.30399522_30399537dup
GRCh38.p14 chr 22	NC_000022.11:g.30399537_30399538insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 22	NC_000022.10:g.30795513_30795526del
GRCh37.p13 chr 22	NC_000022.10:g.30795514_30795526del
GRCh37.p13 chr 22	NC_000022.10:g.30795515_30795526del
GRCh37.p13 chr 22	NC_000022.10:g.30795516_30795526del
GRCh37.p13 chr 22	NC_000022.10:g.30795517_30795526del
GRCh37.p13 chr 22	NC_000022.10:g.30795518_30795526del
GRCh37.p13 chr 22	NC_000022.10:g.30795519_30795526del
GRCh37.p13 chr 22	NC_000022.10:g.30795520_30795526del
GRCh37.p13 chr 22	NC_000022.10:g.30795521_30795526del
GRCh37.p13 chr 22	NC_000022.10:g.30795522_30795526del
GRCh37.p13 chr 22	NC_000022.10:g.30795523_30795526del
GRCh37.p13 chr 22	NC_000022.10:g.30795524_30795526del
GRCh37.p13 chr 22	NC_000022.10:g.30795525_30795526del
GRCh37.p13 chr 22	NC_000022.10:g.30795526del
GRCh37.p13 chr 22	NC_000022.10:g.30795526dup
GRCh37.p13 chr 22	NC_000022.10:g.30795525_30795526dup
GRCh37.p13 chr 22	NC_000022.10:g.30795524_30795526dup
GRCh37.p13 chr 22	NC_000022.10:g.30795523_30795526dup
GRCh37.p13 chr 22	NC_000022.10:g.30795522_30795526dup
GRCh37.p13 chr 22	NC_000022.10:g.30795521_30795526dup
GRCh37.p13 chr 22	NC_000022.10:g.30795520_30795526dup
GRCh37.p13 chr 22	NC_000022.10:g.30795519_30795526dup
GRCh37.p13 chr 22	NC_000022.10:g.30795518_30795526dup
GRCh37.p13 chr 22	NC_000022.10:g.30795517_30795526dup
GRCh37.p13 chr 22	NC_000022.10:g.30795516_30795526dup
GRCh37.p13 chr 22	NC_000022.10:g.30795515_30795526dup
GRCh37.p13 chr 22	NC_000022.10:g.30795514_30795526dup
GRCh37.p13 chr 22	NC_000022.10:g.30795513_30795526dup
GRCh37.p13 chr 22	NC_000022.10:g.30795512_30795526dup
GRCh37.p13 chr 22	NC_000022.10:g.30795511_30795526dup
GRCh37.p13 chr 22	NC_000022.10:g.30795526_30795527insAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Gene: SEC14L2, SEC14 like lipid binding 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SEC14L2 transcript variant 3	NM_001204204.3:c.55-119_5… NM_001204204.3:c.55-119_55-106del	N/A	Intron Variant
SEC14L2 transcript variant 4	NM_001291932.2:c.-33+2354… NM_001291932.2:c.-33+2354_-33+2367del	N/A	Intron Variant
SEC14L2 transcript variant 1	NM_012429.5:c.55-119_55-1… NM_012429.5:c.55-119_55-106del	N/A	Intron Variant
SEC14L2 transcript variant 2	NM_033382.3:c.55-119_55-1… NM_033382.3:c.55-119_55-106del	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)₁₄	del(A)₁₃	del(A)₁₂	del(A)₁₁	del(A)₁₀	del(A)₉	del(A)₈	del(A)₇	del(A)₆	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)₁₃	dup(A)₁₄	dup(A)₁₅	dup(A)₁₆	ins(A)₂₈
GRCh38.p14 chr 22	NC_000022.11:g.30399514_30399537=	NC_000022.11:g.30399524_30399537del	NC_000022.11:g.30399525_30399537del	NC_000022.11:g.30399526_30399537del	NC_000022.11:g.30399527_30399537del	NC_000022.11:g.30399528_30399537del	NC_000022.11:g.30399529_30399537del	NC_000022.11:g.30399530_30399537del	NC_000022.11:g.30399531_30399537del	NC_000022.11:g.30399532_30399537del	NC_000022.11:g.30399533_30399537del	NC_000022.11:g.30399534_30399537del	NC_000022.11:g.30399535_30399537del	NC_000022.11:g.30399536_30399537del	NC_000022.11:g.30399537del	NC_000022.11:g.30399537dup	NC_000022.11:g.30399536_30399537dup	NC_000022.11:g.30399535_30399537dup	NC_000022.11:g.30399534_30399537dup	NC_000022.11:g.30399533_30399537dup	NC_000022.11:g.30399532_30399537dup	NC_000022.11:g.30399531_30399537dup	NC_000022.11:g.30399530_30399537dup	NC_000022.11:g.30399529_30399537dup	NC_000022.11:g.30399528_30399537dup	NC_000022.11:g.30399527_30399537dup	NC_000022.11:g.30399526_30399537dup	NC_000022.11:g.30399525_30399537dup	NC_000022.11:g.30399524_30399537dup	NC_000022.11:g.30399523_30399537dup	NC_000022.11:g.30399522_30399537dup	NC_000022.11:g.30399537_30399538insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 22	NC_000022.10:g.30795503_30795526=	NC_000022.10:g.30795513_30795526del	NC_000022.10:g.30795514_30795526del	NC_000022.10:g.30795515_30795526del	NC_000022.10:g.30795516_30795526del	NC_000022.10:g.30795517_30795526del	NC_000022.10:g.30795518_30795526del	NC_000022.10:g.30795519_30795526del	NC_000022.10:g.30795520_30795526del	NC_000022.10:g.30795521_30795526del	NC_000022.10:g.30795522_30795526del	NC_000022.10:g.30795523_30795526del	NC_000022.10:g.30795524_30795526del	NC_000022.10:g.30795525_30795526del	NC_000022.10:g.30795526del	NC_000022.10:g.30795526dup	NC_000022.10:g.30795525_30795526dup	NC_000022.10:g.30795524_30795526dup	NC_000022.10:g.30795523_30795526dup	NC_000022.10:g.30795522_30795526dup	NC_000022.10:g.30795521_30795526dup	NC_000022.10:g.30795520_30795526dup	NC_000022.10:g.30795519_30795526dup	NC_000022.10:g.30795518_30795526dup	NC_000022.10:g.30795517_30795526dup	NC_000022.10:g.30795516_30795526dup	NC_000022.10:g.30795515_30795526dup	NC_000022.10:g.30795514_30795526dup	NC_000022.10:g.30795513_30795526dup	NC_000022.10:g.30795512_30795526dup	NC_000022.10:g.30795511_30795526dup	NC_000022.10:g.30795526_30795527insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
SEC14L2 transcript variant 3	NM_001204204.1:c.55-129=	NM_001204204.1:c.55-119_55-106del	NM_001204204.1:c.55-118_55-106del	NM_001204204.1:c.55-117_55-106del	NM_001204204.1:c.55-116_55-106del	NM_001204204.1:c.55-115_55-106del	NM_001204204.1:c.55-114_55-106del	NM_001204204.1:c.55-113_55-106del	NM_001204204.1:c.55-112_55-106del	NM_001204204.1:c.55-111_55-106del	NM_001204204.1:c.55-110_55-106del	NM_001204204.1:c.55-109_55-106del	NM_001204204.1:c.55-108_55-106del	NM_001204204.1:c.55-107_55-106del	NM_001204204.1:c.55-106del	NM_001204204.1:c.55-106dup	NM_001204204.1:c.55-107_55-106dup	NM_001204204.1:c.55-108_55-106dup	NM_001204204.1:c.55-109_55-106dup	NM_001204204.1:c.55-110_55-106dup	NM_001204204.1:c.55-111_55-106dup	NM_001204204.1:c.55-112_55-106dup	NM_001204204.1:c.55-113_55-106dup	NM_001204204.1:c.55-114_55-106dup	NM_001204204.1:c.55-115_55-106dup	NM_001204204.1:c.55-116_55-106dup	NM_001204204.1:c.55-117_55-106dup	NM_001204204.1:c.55-118_55-106dup	NM_001204204.1:c.55-119_55-106dup	NM_001204204.1:c.55-120_55-106dup	NM_001204204.1:c.55-121_55-106dup	NM_001204204.1:c.55-106_55-105insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
SEC14L2 transcript variant 3	NM_001204204.3:c.55-129=	NM_001204204.3:c.55-119_55-106del	NM_001204204.3:c.55-118_55-106del	NM_001204204.3:c.55-117_55-106del	NM_001204204.3:c.55-116_55-106del	NM_001204204.3:c.55-115_55-106del	NM_001204204.3:c.55-114_55-106del	NM_001204204.3:c.55-113_55-106del	NM_001204204.3:c.55-112_55-106del	NM_001204204.3:c.55-111_55-106del	NM_001204204.3:c.55-110_55-106del	NM_001204204.3:c.55-109_55-106del	NM_001204204.3:c.55-108_55-106del	NM_001204204.3:c.55-107_55-106del	NM_001204204.3:c.55-106del	NM_001204204.3:c.55-106dup	NM_001204204.3:c.55-107_55-106dup	NM_001204204.3:c.55-108_55-106dup	NM_001204204.3:c.55-109_55-106dup	NM_001204204.3:c.55-110_55-106dup	NM_001204204.3:c.55-111_55-106dup	NM_001204204.3:c.55-112_55-106dup	NM_001204204.3:c.55-113_55-106dup	NM_001204204.3:c.55-114_55-106dup	NM_001204204.3:c.55-115_55-106dup	NM_001204204.3:c.55-116_55-106dup	NM_001204204.3:c.55-117_55-106dup	NM_001204204.3:c.55-118_55-106dup	NM_001204204.3:c.55-119_55-106dup	NM_001204204.3:c.55-120_55-106dup	NM_001204204.3:c.55-121_55-106dup	NM_001204204.3:c.55-106_55-105insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
SEC14L2 transcript variant 4	NM_001291932.2:c.-33+2344=	NM_001291932.2:c.-33+2354_-33+2367del	NM_001291932.2:c.-33+2355_-33+2367del	NM_001291932.2:c.-33+2356_-33+2367del	NM_001291932.2:c.-33+2357_-33+2367del	NM_001291932.2:c.-33+2358_-33+2367del	NM_001291932.2:c.-33+2359_-33+2367del	NM_001291932.2:c.-33+2360_-33+2367del	NM_001291932.2:c.-33+2361_-33+2367del	NM_001291932.2:c.-33+2362_-33+2367del	NM_001291932.2:c.-33+2363_-33+2367del	NM_001291932.2:c.-33+2364_-33+2367del	NM_001291932.2:c.-33+2365_-33+2367del	NM_001291932.2:c.-33+2366_-33+2367del	NM_001291932.2:c.-33+2367del	NM_001291932.2:c.-33+2367dup	NM_001291932.2:c.-33+2366_-33+2367dup	NM_001291932.2:c.-33+2365_-33+2367dup	NM_001291932.2:c.-33+2364_-33+2367dup	NM_001291932.2:c.-33+2363_-33+2367dup	NM_001291932.2:c.-33+2362_-33+2367dup	NM_001291932.2:c.-33+2361_-33+2367dup	NM_001291932.2:c.-33+2360_-33+2367dup	NM_001291932.2:c.-33+2359_-33+2367dup	NM_001291932.2:c.-33+2358_-33+2367dup	NM_001291932.2:c.-33+2357_-33+2367dup	NM_001291932.2:c.-33+2356_-33+2367dup	NM_001291932.2:c.-33+2355_-33+2367dup	NM_001291932.2:c.-33+2354_-33+2367dup	NM_001291932.2:c.-33+2353_-33+2367dup	NM_001291932.2:c.-33+2352_-33+2367dup	NM_001291932.2:c.-33+2367_-33+2368insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
SEC14L2 transcript variant 1	NM_012429.3:c.55-129=	NM_012429.3:c.55-119_55-106del	NM_012429.3:c.55-118_55-106del	NM_012429.3:c.55-117_55-106del	NM_012429.3:c.55-116_55-106del	NM_012429.3:c.55-115_55-106del	NM_012429.3:c.55-114_55-106del	NM_012429.3:c.55-113_55-106del	NM_012429.3:c.55-112_55-106del	NM_012429.3:c.55-111_55-106del	NM_012429.3:c.55-110_55-106del	NM_012429.3:c.55-109_55-106del	NM_012429.3:c.55-108_55-106del	NM_012429.3:c.55-107_55-106del	NM_012429.3:c.55-106del	NM_012429.3:c.55-106dup	NM_012429.3:c.55-107_55-106dup	NM_012429.3:c.55-108_55-106dup	NM_012429.3:c.55-109_55-106dup	NM_012429.3:c.55-110_55-106dup	NM_012429.3:c.55-111_55-106dup	NM_012429.3:c.55-112_55-106dup	NM_012429.3:c.55-113_55-106dup	NM_012429.3:c.55-114_55-106dup	NM_012429.3:c.55-115_55-106dup	NM_012429.3:c.55-116_55-106dup	NM_012429.3:c.55-117_55-106dup	NM_012429.3:c.55-118_55-106dup	NM_012429.3:c.55-119_55-106dup	NM_012429.3:c.55-120_55-106dup	NM_012429.3:c.55-121_55-106dup	NM_012429.3:c.55-106_55-105insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
SEC14L2 transcript variant 1	NM_012429.5:c.55-129=	NM_012429.5:c.55-119_55-106del	NM_012429.5:c.55-118_55-106del	NM_012429.5:c.55-117_55-106del	NM_012429.5:c.55-116_55-106del	NM_012429.5:c.55-115_55-106del	NM_012429.5:c.55-114_55-106del	NM_012429.5:c.55-113_55-106del	NM_012429.5:c.55-112_55-106del	NM_012429.5:c.55-111_55-106del	NM_012429.5:c.55-110_55-106del	NM_012429.5:c.55-109_55-106del	NM_012429.5:c.55-108_55-106del	NM_012429.5:c.55-107_55-106del	NM_012429.5:c.55-106del	NM_012429.5:c.55-106dup	NM_012429.5:c.55-107_55-106dup	NM_012429.5:c.55-108_55-106dup	NM_012429.5:c.55-109_55-106dup	NM_012429.5:c.55-110_55-106dup	NM_012429.5:c.55-111_55-106dup	NM_012429.5:c.55-112_55-106dup	NM_012429.5:c.55-113_55-106dup	NM_012429.5:c.55-114_55-106dup	NM_012429.5:c.55-115_55-106dup	NM_012429.5:c.55-116_55-106dup	NM_012429.5:c.55-117_55-106dup	NM_012429.5:c.55-118_55-106dup	NM_012429.5:c.55-119_55-106dup	NM_012429.5:c.55-120_55-106dup	NM_012429.5:c.55-121_55-106dup	NM_012429.5:c.55-106_55-105insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
SEC14L2 transcript variant 2	NM_033382.2:c.55-129=	NM_033382.2:c.55-119_55-106del	NM_033382.2:c.55-118_55-106del	NM_033382.2:c.55-117_55-106del	NM_033382.2:c.55-116_55-106del	NM_033382.2:c.55-115_55-106del	NM_033382.2:c.55-114_55-106del	NM_033382.2:c.55-113_55-106del	NM_033382.2:c.55-112_55-106del	NM_033382.2:c.55-111_55-106del	NM_033382.2:c.55-110_55-106del	NM_033382.2:c.55-109_55-106del	NM_033382.2:c.55-108_55-106del	NM_033382.2:c.55-107_55-106del	NM_033382.2:c.55-106del	NM_033382.2:c.55-106dup	NM_033382.2:c.55-107_55-106dup	NM_033382.2:c.55-108_55-106dup	NM_033382.2:c.55-109_55-106dup	NM_033382.2:c.55-110_55-106dup	NM_033382.2:c.55-111_55-106dup	NM_033382.2:c.55-112_55-106dup	NM_033382.2:c.55-113_55-106dup	NM_033382.2:c.55-114_55-106dup	NM_033382.2:c.55-115_55-106dup	NM_033382.2:c.55-116_55-106dup	NM_033382.2:c.55-117_55-106dup	NM_033382.2:c.55-118_55-106dup	NM_033382.2:c.55-119_55-106dup	NM_033382.2:c.55-120_55-106dup	NM_033382.2:c.55-121_55-106dup	NM_033382.2:c.55-106_55-105insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
SEC14L2 transcript variant 2	NM_033382.3:c.55-129=	NM_033382.3:c.55-119_55-106del	NM_033382.3:c.55-118_55-106del	NM_033382.3:c.55-117_55-106del	NM_033382.3:c.55-116_55-106del	NM_033382.3:c.55-115_55-106del	NM_033382.3:c.55-114_55-106del	NM_033382.3:c.55-113_55-106del	NM_033382.3:c.55-112_55-106del	NM_033382.3:c.55-111_55-106del	NM_033382.3:c.55-110_55-106del	NM_033382.3:c.55-109_55-106del	NM_033382.3:c.55-108_55-106del	NM_033382.3:c.55-107_55-106del	NM_033382.3:c.55-106del	NM_033382.3:c.55-106dup	NM_033382.3:c.55-107_55-106dup	NM_033382.3:c.55-108_55-106dup	NM_033382.3:c.55-109_55-106dup	NM_033382.3:c.55-110_55-106dup	NM_033382.3:c.55-111_55-106dup	NM_033382.3:c.55-112_55-106dup	NM_033382.3:c.55-113_55-106dup	NM_033382.3:c.55-114_55-106dup	NM_033382.3:c.55-115_55-106dup	NM_033382.3:c.55-116_55-106dup	NM_033382.3:c.55-117_55-106dup	NM_033382.3:c.55-118_55-106dup	NM_033382.3:c.55-119_55-106dup	NM_033382.3:c.55-120_55-106dup	NM_033382.3:c.55-121_55-106dup	NM_033382.3:c.55-106_55-105insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
SEC14L2 transcript variant X1	XM_005261425.1:c.-33+2344=	XM_005261425.1:c.-33+2354_-33+2367del	XM_005261425.1:c.-33+2355_-33+2367del	XM_005261425.1:c.-33+2356_-33+2367del	XM_005261425.1:c.-33+2357_-33+2367del	XM_005261425.1:c.-33+2358_-33+2367del	XM_005261425.1:c.-33+2359_-33+2367del	XM_005261425.1:c.-33+2360_-33+2367del	XM_005261425.1:c.-33+2361_-33+2367del	XM_005261425.1:c.-33+2362_-33+2367del	XM_005261425.1:c.-33+2363_-33+2367del	XM_005261425.1:c.-33+2364_-33+2367del	XM_005261425.1:c.-33+2365_-33+2367del	XM_005261425.1:c.-33+2366_-33+2367del	XM_005261425.1:c.-33+2367del	XM_005261425.1:c.-33+2367dup	XM_005261425.1:c.-33+2366_-33+2367dup	XM_005261425.1:c.-33+2365_-33+2367dup	XM_005261425.1:c.-33+2364_-33+2367dup	XM_005261425.1:c.-33+2363_-33+2367dup	XM_005261425.1:c.-33+2362_-33+2367dup	XM_005261425.1:c.-33+2361_-33+2367dup	XM_005261425.1:c.-33+2360_-33+2367dup	XM_005261425.1:c.-33+2359_-33+2367dup	XM_005261425.1:c.-33+2358_-33+2367dup	XM_005261425.1:c.-33+2357_-33+2367dup	XM_005261425.1:c.-33+2356_-33+2367dup	XM_005261425.1:c.-33+2355_-33+2367dup	XM_005261425.1:c.-33+2354_-33+2367dup	XM_005261425.1:c.-33+2353_-33+2367dup	XM_005261425.1:c.-33+2352_-33+2367dup	XM_005261425.1:c.-33+2367_-33+2368insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
SEC14L2 transcript variant X2	XM_005261426.1:c.-33+2344=	XM_005261426.1:c.-33+2354_-33+2367del	XM_005261426.1:c.-33+2355_-33+2367del	XM_005261426.1:c.-33+2356_-33+2367del	XM_005261426.1:c.-33+2357_-33+2367del	XM_005261426.1:c.-33+2358_-33+2367del	XM_005261426.1:c.-33+2359_-33+2367del	XM_005261426.1:c.-33+2360_-33+2367del	XM_005261426.1:c.-33+2361_-33+2367del	XM_005261426.1:c.-33+2362_-33+2367del	XM_005261426.1:c.-33+2363_-33+2367del	XM_005261426.1:c.-33+2364_-33+2367del	XM_005261426.1:c.-33+2365_-33+2367del	XM_005261426.1:c.-33+2366_-33+2367del	XM_005261426.1:c.-33+2367del	XM_005261426.1:c.-33+2367dup	XM_005261426.1:c.-33+2366_-33+2367dup	XM_005261426.1:c.-33+2365_-33+2367dup	XM_005261426.1:c.-33+2364_-33+2367dup	XM_005261426.1:c.-33+2363_-33+2367dup	XM_005261426.1:c.-33+2362_-33+2367dup	XM_005261426.1:c.-33+2361_-33+2367dup	XM_005261426.1:c.-33+2360_-33+2367dup	XM_005261426.1:c.-33+2359_-33+2367dup	XM_005261426.1:c.-33+2358_-33+2367dup	XM_005261426.1:c.-33+2357_-33+2367dup	XM_005261426.1:c.-33+2356_-33+2367dup	XM_005261426.1:c.-33+2355_-33+2367dup	XM_005261426.1:c.-33+2354_-33+2367dup	XM_005261426.1:c.-33+2353_-33+2367dup	XM_005261426.1:c.-33+2352_-33+2367dup	XM_005261426.1:c.-33+2367_-33+2368insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
SEC14L2 transcript variant X3	XM_005261427.1:c.55-129=	XM_005261427.1:c.55-119_55-106del	XM_005261427.1:c.55-118_55-106del	XM_005261427.1:c.55-117_55-106del	XM_005261427.1:c.55-116_55-106del	XM_005261427.1:c.55-115_55-106del	XM_005261427.1:c.55-114_55-106del	XM_005261427.1:c.55-113_55-106del	XM_005261427.1:c.55-112_55-106del	XM_005261427.1:c.55-111_55-106del	XM_005261427.1:c.55-110_55-106del	XM_005261427.1:c.55-109_55-106del	XM_005261427.1:c.55-108_55-106del	XM_005261427.1:c.55-107_55-106del	XM_005261427.1:c.55-106del	XM_005261427.1:c.55-106dup	XM_005261427.1:c.55-107_55-106dup	XM_005261427.1:c.55-108_55-106dup	XM_005261427.1:c.55-109_55-106dup	XM_005261427.1:c.55-110_55-106dup	XM_005261427.1:c.55-111_55-106dup	XM_005261427.1:c.55-112_55-106dup	XM_005261427.1:c.55-113_55-106dup	XM_005261427.1:c.55-114_55-106dup	XM_005261427.1:c.55-115_55-106dup	XM_005261427.1:c.55-116_55-106dup	XM_005261427.1:c.55-117_55-106dup	XM_005261427.1:c.55-118_55-106dup	XM_005261427.1:c.55-119_55-106dup	XM_005261427.1:c.55-120_55-106dup	XM_005261427.1:c.55-121_55-106dup	XM_005261427.1:c.55-106_55-105insAAAAAAAAAAAAAAAAAAAAAAAAAAAA

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#.

74 SubSNP, 49 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss81832035	Dec 15, 2007 (129)
2	HUMANGENOME_JCVI	ss95756372	Oct 12, 2018 (152)
3	HUMANGENOME_JCVI	ss96109801	Mar 15, 2016 (151)
4	PJP	ss295075949	Aug 21, 2014 (142)
5	EVA_UK10K_ALSPAC	ss1709571580	Apr 01, 2015 (144)
6	EVA_UK10K_TWINSUK	ss1709571615	Apr 01, 2015 (144)
7	EVA_UK10K_ALSPAC	ss1710841499	Apr 01, 2015 (144)
8	EVA_UK10K_ALSPAC	ss1710841501	Apr 01, 2015 (144)
9	EVA_UK10K_TWINSUK	ss1710841572	Apr 01, 2015 (144)
10	EVA_UK10K_TWINSUK	ss1710841574	Apr 01, 2015 (144)
11	SWEGEN	ss3019230756	Nov 08, 2017 (151)
12	EVA_DECODE	ss3708110290	Jul 13, 2019 (153)
13	EVA_DECODE	ss3708110291	Jul 13, 2019 (153)
14	EVA_DECODE	ss3708110292	Jul 13, 2019 (153)
15	EVA_DECODE	ss3708110293	Jul 13, 2019 (153)
16	EVA_DECODE	ss3708110294	Jul 13, 2019 (153)
17	EVA_DECODE	ss3708110295	Jul 13, 2019 (153)
18	ACPOP	ss3743893426	Jul 13, 2019 (153)
19	ACPOP	ss3743893427	Jul 13, 2019 (153)
20	EVA	ss3835967837	Apr 27, 2020 (154)
21	EVA	ss3986859535	Apr 26, 2021 (155)
22	GNOMAD	ss4363863738	Apr 26, 2021 (155)
23	GNOMAD	ss4363863739	Apr 26, 2021 (155)
24	GNOMAD	ss4363863740	Apr 26, 2021 (155)
25	GNOMAD	ss4363863741	Apr 26, 2021 (155)
26	GNOMAD	ss4363863742	Apr 26, 2021 (155)
27	GNOMAD	ss4363863743	Apr 26, 2021 (155)
28	GNOMAD	ss4363863744	Apr 26, 2021 (155)
29	GNOMAD	ss4363863745	Apr 26, 2021 (155)
30	GNOMAD	ss4363863746	Apr 26, 2021 (155)
31	GNOMAD	ss4363863747	Apr 26, 2021 (155)
32	GNOMAD	ss4363863748	Apr 26, 2021 (155)
33	GNOMAD	ss4363863749	Apr 26, 2021 (155)
34	GNOMAD	ss4363863750	Apr 26, 2021 (155)
35	GNOMAD	ss4363863751	Apr 26, 2021 (155)
36	GNOMAD	ss4363863752	Apr 26, 2021 (155)
37	GNOMAD	ss4363863753	Apr 26, 2021 (155)
38	GNOMAD	ss4363863754	Apr 26, 2021 (155)
39	GNOMAD	ss4363863755	Apr 26, 2021 (155)
40	GNOMAD	ss4363863756	Apr 26, 2021 (155)
41	GNOMAD	ss4363863757	Apr 26, 2021 (155)
42	GNOMAD	ss4363863758	Apr 26, 2021 (155)
43	GNOMAD	ss4363863759	Apr 26, 2021 (155)
44	GNOMAD	ss4363863760	Apr 26, 2021 (155)
45	GNOMAD	ss4363863761	Apr 26, 2021 (155)
46	GNOMAD	ss4363863762	Apr 26, 2021 (155)
47	GNOMAD	ss4363863763	Apr 26, 2021 (155)
48	GNOMAD	ss4363863764	Apr 26, 2021 (155)
49	GNOMAD	ss4363863765	Apr 26, 2021 (155)
50	GNOMAD	ss4363863766	Apr 26, 2021 (155)
51	TOMMO_GENOMICS	ss5232426405	Apr 26, 2021 (155)
52	TOMMO_GENOMICS	ss5232426406	Apr 26, 2021 (155)
53	TOMMO_GENOMICS	ss5232426407	Apr 26, 2021 (155)
54	TOMMO_GENOMICS	ss5232426408	Apr 26, 2021 (155)
55	TOMMO_GENOMICS	ss5232426409	Apr 26, 2021 (155)
56	TOMMO_GENOMICS	ss5232426410	Apr 26, 2021 (155)
57	1000G_HIGH_COVERAGE	ss5310947283	Oct 16, 2022 (156)
58	1000G_HIGH_COVERAGE	ss5310947284	Oct 16, 2022 (156)
59	1000G_HIGH_COVERAGE	ss5310947285	Oct 16, 2022 (156)
60	1000G_HIGH_COVERAGE	ss5310947286	Oct 16, 2022 (156)
61	1000G_HIGH_COVERAGE	ss5310947287	Oct 16, 2022 (156)
62	1000G_HIGH_COVERAGE	ss5310947288	Oct 16, 2022 (156)
63	HUGCELL_USP	ss5502803334	Oct 16, 2022 (156)
64	HUGCELL_USP	ss5502803335	Oct 16, 2022 (156)
65	HUGCELL_USP	ss5502803336	Oct 16, 2022 (156)
66	HUGCELL_USP	ss5502803337	Oct 16, 2022 (156)
67	HUGCELL_USP	ss5502803338	Oct 16, 2022 (156)
68	EVA	ss5624121776	Oct 16, 2022 (156)
69	TOMMO_GENOMICS	ss5793484286	Oct 16, 2022 (156)
70	TOMMO_GENOMICS	ss5793484287	Oct 16, 2022 (156)
71	TOMMO_GENOMICS	ss5793484288	Oct 16, 2022 (156)
72	TOMMO_GENOMICS	ss5793484289	Oct 16, 2022 (156)
73	TOMMO_GENOMICS	ss5793484290	Oct 16, 2022 (156)
74	TMC_SNPDB2	ss5847134157	Oct 16, 2022 (156)
75	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 44546278 (NC_000022.10:30795502:AA: 1025/3854) Row 44546279 (NC_000022.10:30795502::AAA 1352/3854) Row 44546280 (NC_000022.10:30795502::AA 1204/3854)	-	Oct 12, 2018 (152)
76	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 44546278 (NC_000022.10:30795502:AA: 1025/3854) Row 44546279 (NC_000022.10:30795502::AAA 1352/3854) Row 44546280 (NC_000022.10:30795502::AA 1204/3854)	-	Oct 12, 2018 (152)
77	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 44546278 (NC_000022.10:30795502:AA: 1025/3854) Row 44546279 (NC_000022.10:30795502::AAA 1352/3854) Row 44546280 (NC_000022.10:30795502::AA 1204/3854)	-	Oct 12, 2018 (152)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 568737383 (NC_000022.11:30399513::A 14981/74912) Row 568737384 (NC_000022.11:30399513::AA 213/75030) Row 568737385 (NC_000022.11:30399513::AAA 12/75088)...	-	Apr 26, 2021 (155)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 568737383 (NC_000022.11:30399513::A 14981/74912) Row 568737384 (NC_000022.11:30399513::AA 213/75030) Row 568737385 (NC_000022.11:30399513::AAA 12/75088)...	-	Apr 26, 2021 (155)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 568737383 (NC_000022.11:30399513::A 14981/74912) Row 568737384 (NC_000022.11:30399513::AA 213/75030) Row 568737385 (NC_000022.11:30399513::AAA 12/75088)...	-	Apr 26, 2021 (155)
81	gnomAD - Genomes Submission ignored due to conflicting rows: Row 568737383 (NC_000022.11:30399513::A 14981/74912) Row 568737384 (NC_000022.11:30399513::AA 213/75030) Row 568737385 (NC_000022.11:30399513::AAA 12/75088)...	-	Apr 26, 2021 (155)
82	gnomAD - Genomes Submission ignored due to conflicting rows: Row 568737383 (NC_000022.11:30399513::A 14981/74912) Row 568737384 (NC_000022.11:30399513::AA 213/75030) Row 568737385 (NC_000022.11:30399513::AAA 12/75088)...	-	Apr 26, 2021 (155)
83	gnomAD - Genomes Submission ignored due to conflicting rows: Row 568737383 (NC_000022.11:30399513::A 14981/74912) Row 568737384 (NC_000022.11:30399513::AA 213/75030) Row 568737385 (NC_000022.11:30399513::AAA 12/75088)...	-	Apr 26, 2021 (155)
84	gnomAD - Genomes Submission ignored due to conflicting rows: Row 568737383 (NC_000022.11:30399513::A 14981/74912) Row 568737384 (NC_000022.11:30399513::AA 213/75030) Row 568737385 (NC_000022.11:30399513::AAA 12/75088)...	-	Apr 26, 2021 (155)
85	gnomAD - Genomes Submission ignored due to conflicting rows: Row 568737383 (NC_000022.11:30399513::A 14981/74912) Row 568737384 (NC_000022.11:30399513::AA 213/75030) Row 568737385 (NC_000022.11:30399513::AAA 12/75088)...	-	Apr 26, 2021 (155)
86	gnomAD - Genomes Submission ignored due to conflicting rows: Row 568737383 (NC_000022.11:30399513::A 14981/74912) Row 568737384 (NC_000022.11:30399513::AA 213/75030) Row 568737385 (NC_000022.11:30399513::AAA 12/75088)...	-	Apr 26, 2021 (155)
87	gnomAD - Genomes Submission ignored due to conflicting rows: Row 568737383 (NC_000022.11:30399513::A 14981/74912) Row 568737384 (NC_000022.11:30399513::AA 213/75030) Row 568737385 (NC_000022.11:30399513::AAA 12/75088)...	-	Apr 26, 2021 (155)
88	gnomAD - Genomes Submission ignored due to conflicting rows: Row 568737383 (NC_000022.11:30399513::A 14981/74912) Row 568737384 (NC_000022.11:30399513::AA 213/75030) Row 568737385 (NC_000022.11:30399513::AAA 12/75088)...	-	Apr 26, 2021 (155)
89	gnomAD - Genomes Submission ignored due to conflicting rows: Row 568737383 (NC_000022.11:30399513::A 14981/74912) Row 568737384 (NC_000022.11:30399513::AA 213/75030) Row 568737385 (NC_000022.11:30399513::AAA 12/75088)...	-	Apr 26, 2021 (155)
90	gnomAD - Genomes Submission ignored due to conflicting rows: Row 568737383 (NC_000022.11:30399513::A 14981/74912) Row 568737384 (NC_000022.11:30399513::AA 213/75030) Row 568737385 (NC_000022.11:30399513::AAA 12/75088)...	-	Apr 26, 2021 (155)
91	gnomAD - Genomes Submission ignored due to conflicting rows: Row 568737383 (NC_000022.11:30399513::A 14981/74912) Row 568737384 (NC_000022.11:30399513::AA 213/75030) Row 568737385 (NC_000022.11:30399513::AAA 12/75088)...	-	Apr 26, 2021 (155)
92	gnomAD - Genomes Submission ignored due to conflicting rows: Row 568737383 (NC_000022.11:30399513::A 14981/74912) Row 568737384 (NC_000022.11:30399513::AA 213/75030) Row 568737385 (NC_000022.11:30399513::AAA 12/75088)...	-	Apr 26, 2021 (155)
93	gnomAD - Genomes Submission ignored due to conflicting rows: Row 568737383 (NC_000022.11:30399513::A 14981/74912) Row 568737384 (NC_000022.11:30399513::AA 213/75030) Row 568737385 (NC_000022.11:30399513::AAA 12/75088)...	-	Apr 26, 2021 (155)
94	gnomAD - Genomes Submission ignored due to conflicting rows: Row 568737383 (NC_000022.11:30399513::A 14981/74912) Row 568737384 (NC_000022.11:30399513::AA 213/75030) Row 568737385 (NC_000022.11:30399513::AAA 12/75088)...	-	Apr 26, 2021 (155)
95	gnomAD - Genomes Submission ignored due to conflicting rows: Row 568737383 (NC_000022.11:30399513::A 14981/74912) Row 568737384 (NC_000022.11:30399513::AA 213/75030) Row 568737385 (NC_000022.11:30399513::AAA 12/75088)...	-	Apr 26, 2021 (155)
96	gnomAD - Genomes Submission ignored due to conflicting rows: Row 568737383 (NC_000022.11:30399513::A 14981/74912) Row 568737384 (NC_000022.11:30399513::AA 213/75030) Row 568737385 (NC_000022.11:30399513::AAA 12/75088)...	-	Apr 26, 2021 (155)
97	gnomAD - Genomes Submission ignored due to conflicting rows: Row 568737383 (NC_000022.11:30399513::A 14981/74912) Row 568737384 (NC_000022.11:30399513::AA 213/75030) Row 568737385 (NC_000022.11:30399513::AAA 12/75088)...	-	Apr 26, 2021 (155)
98	gnomAD - Genomes Submission ignored due to conflicting rows: Row 568737383 (NC_000022.11:30399513::A 14981/74912) Row 568737384 (NC_000022.11:30399513::AA 213/75030) Row 568737385 (NC_000022.11:30399513::AAA 12/75088)...	-	Apr 26, 2021 (155)
99	gnomAD - Genomes Submission ignored due to conflicting rows: Row 568737383 (NC_000022.11:30399513::A 14981/74912) Row 568737384 (NC_000022.11:30399513::AA 213/75030) Row 568737385 (NC_000022.11:30399513::AAA 12/75088)...	-	Apr 26, 2021 (155)
100	gnomAD - Genomes Submission ignored due to conflicting rows: Row 568737383 (NC_000022.11:30399513::A 14981/74912) Row 568737384 (NC_000022.11:30399513::AA 213/75030) Row 568737385 (NC_000022.11:30399513::AAA 12/75088)...	-	Apr 26, 2021 (155)
101	gnomAD - Genomes Submission ignored due to conflicting rows: Row 568737383 (NC_000022.11:30399513::A 14981/74912) Row 568737384 (NC_000022.11:30399513::AA 213/75030) Row 568737385 (NC_000022.11:30399513::AAA 12/75088)...	-	Apr 26, 2021 (155)
102	gnomAD - Genomes Submission ignored due to conflicting rows: Row 568737383 (NC_000022.11:30399513::A 14981/74912) Row 568737384 (NC_000022.11:30399513::AA 213/75030) Row 568737385 (NC_000022.11:30399513::AAA 12/75088)...	-	Apr 26, 2021 (155)
103	gnomAD - Genomes Submission ignored due to conflicting rows: Row 568737383 (NC_000022.11:30399513::A 14981/74912) Row 568737384 (NC_000022.11:30399513::AA 213/75030) Row 568737385 (NC_000022.11:30399513::AAA 12/75088)...	-	Apr 26, 2021 (155)
104	gnomAD - Genomes Submission ignored due to conflicting rows: Row 568737383 (NC_000022.11:30399513::A 14981/74912) Row 568737384 (NC_000022.11:30399513::AA 213/75030) Row 568737385 (NC_000022.11:30399513::AAA 12/75088)...	-	Apr 26, 2021 (155)
105	gnomAD - Genomes Submission ignored due to conflicting rows: Row 568737383 (NC_000022.11:30399513::A 14981/74912) Row 568737384 (NC_000022.11:30399513::AA 213/75030) Row 568737385 (NC_000022.11:30399513::AAA 12/75088)...	-	Apr 26, 2021 (155)
106	gnomAD - Genomes Submission ignored due to conflicting rows: Row 568737383 (NC_000022.11:30399513::A 14981/74912) Row 568737384 (NC_000022.11:30399513::AA 213/75030) Row 568737385 (NC_000022.11:30399513::AAA 12/75088)...	-	Apr 26, 2021 (155)
107	Northern Sweden Submission ignored due to conflicting rows: Row 17178291 (NC_000022.10:30795502:AAAAAAAAA: 7/508) Row 17178292 (NC_000022.10:30795502::AAAAAAAAAAAAAAAAAAAAAAAAAAAA 2/508)	-	Jul 13, 2019 (153)
108	Northern Sweden Submission ignored due to conflicting rows: Row 17178291 (NC_000022.10:30795502:AAAAAAAAA: 7/508) Row 17178292 (NC_000022.10:30795502::AAAAAAAAAAAAAAAAAAAAAAAAAAAA 2/508)	-	Jul 13, 2019 (153)
109	8.3KJPN Submission ignored due to conflicting rows: Row 90395712 (NC_000022.10:30795502:AA: 6018/15658) Row 90395713 (NC_000022.10:30795502::A 764/15658) Row 90395714 (NC_000022.10:30795502:AAAAAAAAA: 140/15658)...	-	Apr 26, 2021 (155)
110	8.3KJPN Submission ignored due to conflicting rows: Row 90395712 (NC_000022.10:30795502:AA: 6018/15658) Row 90395713 (NC_000022.10:30795502::A 764/15658) Row 90395714 (NC_000022.10:30795502:AAAAAAAAA: 140/15658)...	-	Apr 26, 2021 (155)
111	8.3KJPN Submission ignored due to conflicting rows: Row 90395712 (NC_000022.10:30795502:AA: 6018/15658) Row 90395713 (NC_000022.10:30795502::A 764/15658) Row 90395714 (NC_000022.10:30795502:AAAAAAAAA: 140/15658)...	-	Apr 26, 2021 (155)
112	8.3KJPN Submission ignored due to conflicting rows: Row 90395712 (NC_000022.10:30795502:AA: 6018/15658) Row 90395713 (NC_000022.10:30795502::A 764/15658) Row 90395714 (NC_000022.10:30795502:AAAAAAAAA: 140/15658)...	-	Apr 26, 2021 (155)
113	8.3KJPN Submission ignored due to conflicting rows: Row 90395712 (NC_000022.10:30795502:AA: 6018/15658) Row 90395713 (NC_000022.10:30795502::A 764/15658) Row 90395714 (NC_000022.10:30795502:AAAAAAAAA: 140/15658)...	-	Apr 26, 2021 (155)
114	8.3KJPN Submission ignored due to conflicting rows: Row 90395712 (NC_000022.10:30795502:AA: 6018/15658) Row 90395713 (NC_000022.10:30795502::A 764/15658) Row 90395714 (NC_000022.10:30795502:AAAAAAAAA: 140/15658)...	-	Apr 26, 2021 (155)
115	14KJPN Submission ignored due to conflicting rows: Row 127321390 (NC_000022.11:30399513:AA: 9807/22700) Row 127321391 (NC_000022.11:30399513:AAAAAAAAA: 230/22700) Row 127321392 (NC_000022.11:30399513::A 1113/22700)...	-	Oct 16, 2022 (156)
116	14KJPN Submission ignored due to conflicting rows: Row 127321390 (NC_000022.11:30399513:AA: 9807/22700) Row 127321391 (NC_000022.11:30399513:AAAAAAAAA: 230/22700) Row 127321392 (NC_000022.11:30399513::A 1113/22700)...	-	Oct 16, 2022 (156)
117	14KJPN Submission ignored due to conflicting rows: Row 127321390 (NC_000022.11:30399513:AA: 9807/22700) Row 127321391 (NC_000022.11:30399513:AAAAAAAAA: 230/22700) Row 127321392 (NC_000022.11:30399513::A 1113/22700)...	-	Oct 16, 2022 (156)
118	14KJPN Submission ignored due to conflicting rows: Row 127321390 (NC_000022.11:30399513:AA: 9807/22700) Row 127321391 (NC_000022.11:30399513:AAAAAAAAA: 230/22700) Row 127321392 (NC_000022.11:30399513::A 1113/22700)...	-	Oct 16, 2022 (156)
119	14KJPN Submission ignored due to conflicting rows: Row 127321390 (NC_000022.11:30399513:AA: 9807/22700) Row 127321391 (NC_000022.11:30399513:AAAAAAAAA: 230/22700) Row 127321392 (NC_000022.11:30399513::A 1113/22700)...	-	Oct 16, 2022 (156)
120	UK 10K study - Twins Submission ignored due to conflicting rows: Row 44546278 (NC_000022.10:30795502:AA: 1007/3708) Row 44546279 (NC_000022.10:30795502::AAA 1321/3708) Row 44546280 (NC_000022.10:30795502::AA 1108/3708)	-	Oct 12, 2018 (152)
121	UK 10K study - Twins Submission ignored due to conflicting rows: Row 44546278 (NC_000022.10:30795502:AA: 1007/3708) Row 44546279 (NC_000022.10:30795502::AAA 1321/3708) Row 44546280 (NC_000022.10:30795502::AA 1108/3708)	-	Oct 12, 2018 (152)
122	UK 10K study - Twins Submission ignored due to conflicting rows: Row 44546278 (NC_000022.10:30795502:AA: 1007/3708) Row 44546279 (NC_000022.10:30795502::AAA 1321/3708) Row 44546280 (NC_000022.10:30795502::AA 1108/3708)	-	Oct 12, 2018 (152)
123	ALFA	NC_000022.11 - 30399514	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)
rs71328846	May 04, 2012 (137)
rs869058646	Nov 08, 2017 (151)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4363863766	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAA:	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
2542873374	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
ss4363863765	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAA:	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
2542873374	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss4363863764	NC_000022.11:30399513:AAAAAAAAAAAA:	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
2542873374	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4363863763	NC_000022.11:30399513:AAAAAAAAAAA:	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
2542873374	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4363863762	NC_000022.11:30399513:AAAAAAAAAA:	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
2542873374	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3019230756, ss3743893426, ss3986859535, ss5232426407	NC_000022.10:30795502:AAAAAAAAA:	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3708110295, ss4363863761, ss5310947287, ss5502803338, ss5793484287	NC_000022.11:30399513:AAAAAAAAA:	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
2542873374	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4363863760	NC_000022.11:30399513:AAAAAAAA:	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
2542873374	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss5232426410	NC_000022.10:30795502:AAAAAAA:	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4363863759	NC_000022.11:30399513:AAAAAAA:	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
2542873374	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4363863758, ss5310947288	NC_000022.11:30399513:AAAAAA:	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
2542873374	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss5847134157	NC_000022.11:30399513:AAAAA:	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
2542873374	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4363863757	NC_000022.11:30399513:AAAA:	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
2542873374	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss5232426409, ss5624121776	NC_000022.10:30795502:AAA:	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4363863756, ss5310947286, ss5502803337, ss5793484289	NC_000022.11:30399513:AAA:	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
2542873374	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3708110294	NC_000022.11:30399519:AAA:	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss81832035	NC_000022.8:29120078:AA:	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss295075949	NC_000022.9:29125502:AA:	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss1709571580, ss1709571615, ss3835967837, ss5232426405	NC_000022.10:30795502:AA:	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4363863755, ss5310947283, ss5502803334, ss5793484286	NC_000022.11:30399513:AA:	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
2542873374	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3708110293	NC_000022.11:30399520:AA:	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss5232426408	NC_000022.10:30795502:A:	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4363863754, ss5310947284, ss5502803335, ss5793484290	NC_000022.11:30399513:A:	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
2542873374	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3708110292	NC_000022.11:30399521:A:	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5232426406	NC_000022.10:30795502::A	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4363863738, ss5310947285, ss5502803336, ss5793484288	NC_000022.11:30399513::A	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
2542873374	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3708110291	NC_000022.11:30399522::A	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss96109801	NT_011520.12:10186094::A	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss95756372	NT_011520.12:10186095::A	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
	NC_000022.10:30795502::AA	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss1710841501, ss1710841574	NC_000022.10:30795504::AA	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4363863739	NC_000022.11:30399513::AA	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
2542873374	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
	NC_000022.10:30795502::AAA	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss1710841499, ss1710841572	NC_000022.10:30795504::AAA	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4363863740	NC_000022.11:30399513::AAA	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
2542873374	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3708110290	NC_000022.11:30399522::AAA	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4363863741	NC_000022.11:30399513::AAAA	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4363863742	NC_000022.11:30399513::AAAAA	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4363863743	NC_000022.11:30399513::AAAAAA	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
2542873374	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4363863744	NC_000022.11:30399513::AAAAAAA	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4363863745	NC_000022.11:30399513::AAAAAAAA	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4363863746	NC_000022.11:30399513::AAAAAAAAA	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4363863747	NC_000022.11:30399513::AAAAAAAAAA	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4363863748	NC_000022.11:30399513::AAAAAAAAAAA	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4363863749	NC_000022.11:30399513::AAAAAAAAAAAA	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4363863750	NC_000022.11:30399513::AAAAAAAAAAA… NC_000022.11:30399513::AAAAAAAAAAAAA	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4363863751	NC_000022.11:30399513::AAAAAAAAAAA… NC_000022.11:30399513::AAAAAAAAAAAAAA	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4363863752	NC_000022.11:30399513::AAAAAAAAAAA… NC_000022.11:30399513::AAAAAAAAAAAAAAA	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4363863753	NC_000022.11:30399513::AAAAAAAAAAA… NC_000022.11:30399513::AAAAAAAAAAAAAAAA	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3743893427	NC_000022.10:30795502::AAAAAAAAAAA… NC_000022.10:30795502::AAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000022.11:30399513:AAAAAAAAAAAA… NC_000022.11:30399513:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(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 rs60817387

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

rs60817387