Name: rs71134711
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.

rs71134711

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr16:75426036-75426063 (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)₁₆ / del(A)₁₅ / d…
del(A)₁₇ / del(A)₁₆ / del(A)₁₅ / 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)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₆
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₁₇=0.000 (0/410, ALFA)
del(A)₁₆=0.000 (0/410, ALFA)
del(A)₁₅=0.000 (0/410, ALFA) (+ 16 more)
del(A)₁₄=0.000 (0/410, ALFA)
del(A)₁₃=0.000 (0/410, ALFA)
del(A)₁₂=0.000 (0/410, ALFA)
del(A)₁₁=0.000 (0/410, ALFA)
del(A)₁₀=0.000 (0/410, ALFA)
del(A)₉=0.000 (0/410, ALFA)
del(A)₈=0.000 (0/410, ALFA)
del(A)₇=0.000 (0/410, ALFA)
del(A)₅=0.000 (0/410, ALFA)
del(A)₄=0.000 (0/410, ALFA)
delAAA=0.000 (0/410, ALFA)
delAA=0.000 (0/410, ALFA)
delA=0.000 (0/410, ALFA)
dupA=0.000 (0/410, ALFA)
dupAA=0.000 (0/410, ALFA)
(A)₂₈=0.00 (0/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CFDP1 : 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	410	AAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.000	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, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
European	Sub	292	AAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.000	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, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African	Sub	86	AAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	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, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African Others	Sub	6	AAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.0	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, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
African American	Sub	80	AAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	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, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
East Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 1	Sub	4	AAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.0	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, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 2	Sub	8	AAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.0	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, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
South Asian	Sub	2	AAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.0	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, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Other	Sub	18	AAAAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	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, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=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	410	(A)₂₈=1.000	del(A)₁₇=0.000, del(A)₁₆=0.000, del(A)₁₅=0.000, 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)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator	European	Sub	292	(A)₂₈=1.000	del(A)₁₇=0.000, del(A)₁₆=0.000, del(A)₁₅=0.000, 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)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator	African	Sub	86	(A)₂₈=1.00	del(A)₁₇=0.00, del(A)₁₆=0.00, del(A)₁₅=0.00, 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)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator	Other	Sub	18	(A)₂₈=1.00	del(A)₁₇=0.00, del(A)₁₆=0.00, del(A)₁₅=0.00, 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)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator	Latin American 2	Sub	8	(A)₂₈=1.0	del(A)₁₇=0.0, del(A)₁₆=0.0, del(A)₁₅=0.0, 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)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0
Allele Frequency Aggregator	Latin American 1	Sub	4	(A)₂₈=1.0	del(A)₁₇=0.0, del(A)₁₆=0.0, del(A)₁₅=0.0, 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)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0
Allele Frequency Aggregator	South Asian	Sub	2	(A)₂₈=1.0	del(A)₁₇=0.0, del(A)₁₆=0.0, del(A)₁₅=0.0, 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)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0
Allele Frequency Aggregator	Asian	Sub	0	(A)₂₈=0	del(A)₁₇=0, del(A)₁₆=0, del(A)₁₅=0, del(A)₁₄=0, del(A)₁₃=0, del(A)₁₂=0, del(A)₁₁=0, del(A)₁₀=0, del(A)₉=0, del(A)₈=0, del(A)₇=0, del(A)₅=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0
The Danish reference pan genome	Danish	Study-wide	40	(A)₂₈=0.00	del(A)₁₅=1.00

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 16	NC_000016.10:g.75426047_75426063del
GRCh38.p14 chr 16	NC_000016.10:g.75426048_75426063del
GRCh38.p14 chr 16	NC_000016.10:g.75426049_75426063del
GRCh38.p14 chr 16	NC_000016.10:g.75426050_75426063del
GRCh38.p14 chr 16	NC_000016.10:g.75426051_75426063del
GRCh38.p14 chr 16	NC_000016.10:g.75426052_75426063del
GRCh38.p14 chr 16	NC_000016.10:g.75426053_75426063del
GRCh38.p14 chr 16	NC_000016.10:g.75426054_75426063del
GRCh38.p14 chr 16	NC_000016.10:g.75426055_75426063del
GRCh38.p14 chr 16	NC_000016.10:g.75426056_75426063del
GRCh38.p14 chr 16	NC_000016.10:g.75426057_75426063del
GRCh38.p14 chr 16	NC_000016.10:g.75426059_75426063del
GRCh38.p14 chr 16	NC_000016.10:g.75426060_75426063del
GRCh38.p14 chr 16	NC_000016.10:g.75426061_75426063del
GRCh38.p14 chr 16	NC_000016.10:g.75426062_75426063del
GRCh38.p14 chr 16	NC_000016.10:g.75426063del
GRCh38.p14 chr 16	NC_000016.10:g.75426063dup
GRCh38.p14 chr 16	NC_000016.10:g.75426062_75426063dup
GRCh38.p14 chr 16	NC_000016.10:g.75426061_75426063dup
GRCh38.p14 chr 16	NC_000016.10:g.75426058_75426063dup
GRCh37.p13 chr 16	NC_000016.9:g.75459945_75459961del
GRCh37.p13 chr 16	NC_000016.9:g.75459946_75459961del
GRCh37.p13 chr 16	NC_000016.9:g.75459947_75459961del
GRCh37.p13 chr 16	NC_000016.9:g.75459948_75459961del
GRCh37.p13 chr 16	NC_000016.9:g.75459949_75459961del
GRCh37.p13 chr 16	NC_000016.9:g.75459950_75459961del
GRCh37.p13 chr 16	NC_000016.9:g.75459951_75459961del
GRCh37.p13 chr 16	NC_000016.9:g.75459952_75459961del
GRCh37.p13 chr 16	NC_000016.9:g.75459953_75459961del
GRCh37.p13 chr 16	NC_000016.9:g.75459954_75459961del
GRCh37.p13 chr 16	NC_000016.9:g.75459955_75459961del
GRCh37.p13 chr 16	NC_000016.9:g.75459957_75459961del
GRCh37.p13 chr 16	NC_000016.9:g.75459958_75459961del
GRCh37.p13 chr 16	NC_000016.9:g.75459959_75459961del
GRCh37.p13 chr 16	NC_000016.9:g.75459960_75459961del
GRCh37.p13 chr 16	NC_000016.9:g.75459961del
GRCh37.p13 chr 16	NC_000016.9:g.75459961dup
GRCh37.p13 chr 16	NC_000016.9:g.75459960_75459961dup
GRCh37.p13 chr 16	NC_000016.9:g.75459959_75459961dup
GRCh37.p13 chr 16	NC_000016.9:g.75459956_75459961dup

Gene: CFDP1, craniofacial development protein 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CFDP1 transcript	NM_006324.3:c.64+7237_64+… NM_006324.3:c.64+7237_64+7253del	N/A	Intron Variant
CFDP1 transcript variant X3	XM_011522814.3:c.64+7237_… XM_011522814.3:c.64+7237_64+7253del	N/A	Intron Variant
CFDP1 transcript variant X7	XM_011522815.3:c.64+7237_… XM_011522815.3:c.64+7237_64+7253del	N/A	Intron Variant
CFDP1 transcript variant X1	XM_047433503.1:c.64+7237_… XM_047433503.1:c.64+7237_64+7253del	N/A	Intron Variant
CFDP1 transcript variant X2	XM_047433504.1:c.64+7237_… XM_047433504.1:c.64+7237_64+7253del	N/A	Intron Variant
CFDP1 transcript variant X4	XR_007064845.1:n.	N/A	Intron Variant
CFDP1 transcript variant X5	XR_007064846.1:n.	N/A	Intron Variant
CFDP1 transcript variant X6	XR_007064847.1: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)₂₈=	del(A)₁₇	del(A)₁₆	del(A)₁₅	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)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₆
GRCh38.p14 chr 16	NC_000016.10:g.75426036_75426063=	NC_000016.10:g.75426047_75426063del	NC_000016.10:g.75426048_75426063del	NC_000016.10:g.75426049_75426063del	NC_000016.10:g.75426050_75426063del	NC_000016.10:g.75426051_75426063del	NC_000016.10:g.75426052_75426063del	NC_000016.10:g.75426053_75426063del	NC_000016.10:g.75426054_75426063del	NC_000016.10:g.75426055_75426063del	NC_000016.10:g.75426056_75426063del	NC_000016.10:g.75426057_75426063del	NC_000016.10:g.75426059_75426063del	NC_000016.10:g.75426060_75426063del	NC_000016.10:g.75426061_75426063del	NC_000016.10:g.75426062_75426063del	NC_000016.10:g.75426063del	NC_000016.10:g.75426063dup	NC_000016.10:g.75426062_75426063dup	NC_000016.10:g.75426061_75426063dup	NC_000016.10:g.75426058_75426063dup
GRCh37.p13 chr 16	NC_000016.9:g.75459934_75459961=	NC_000016.9:g.75459945_75459961del	NC_000016.9:g.75459946_75459961del	NC_000016.9:g.75459947_75459961del	NC_000016.9:g.75459948_75459961del	NC_000016.9:g.75459949_75459961del	NC_000016.9:g.75459950_75459961del	NC_000016.9:g.75459951_75459961del	NC_000016.9:g.75459952_75459961del	NC_000016.9:g.75459953_75459961del	NC_000016.9:g.75459954_75459961del	NC_000016.9:g.75459955_75459961del	NC_000016.9:g.75459957_75459961del	NC_000016.9:g.75459958_75459961del	NC_000016.9:g.75459959_75459961del	NC_000016.9:g.75459960_75459961del	NC_000016.9:g.75459961del	NC_000016.9:g.75459961dup	NC_000016.9:g.75459960_75459961dup	NC_000016.9:g.75459959_75459961dup	NC_000016.9:g.75459956_75459961dup
CFDP1 transcript	NM_006324.2:c.64+7253=	NM_006324.2:c.64+7237_64+7253del	NM_006324.2:c.64+7238_64+7253del	NM_006324.2:c.64+7239_64+7253del	NM_006324.2:c.64+7240_64+7253del	NM_006324.2:c.64+7241_64+7253del	NM_006324.2:c.64+7242_64+7253del	NM_006324.2:c.64+7243_64+7253del	NM_006324.2:c.64+7244_64+7253del	NM_006324.2:c.64+7245_64+7253del	NM_006324.2:c.64+7246_64+7253del	NM_006324.2:c.64+7247_64+7253del	NM_006324.2:c.64+7249_64+7253del	NM_006324.2:c.64+7250_64+7253del	NM_006324.2:c.64+7251_64+7253del	NM_006324.2:c.64+7252_64+7253del	NM_006324.2:c.64+7253del	NM_006324.2:c.64+7253dup	NM_006324.2:c.64+7252_64+7253dup	NM_006324.2:c.64+7251_64+7253dup	NM_006324.2:c.64+7248_64+7253dup
CFDP1 transcript	NM_006324.3:c.64+7253=	NM_006324.3:c.64+7237_64+7253del	NM_006324.3:c.64+7238_64+7253del	NM_006324.3:c.64+7239_64+7253del	NM_006324.3:c.64+7240_64+7253del	NM_006324.3:c.64+7241_64+7253del	NM_006324.3:c.64+7242_64+7253del	NM_006324.3:c.64+7243_64+7253del	NM_006324.3:c.64+7244_64+7253del	NM_006324.3:c.64+7245_64+7253del	NM_006324.3:c.64+7246_64+7253del	NM_006324.3:c.64+7247_64+7253del	NM_006324.3:c.64+7249_64+7253del	NM_006324.3:c.64+7250_64+7253del	NM_006324.3:c.64+7251_64+7253del	NM_006324.3:c.64+7252_64+7253del	NM_006324.3:c.64+7253del	NM_006324.3:c.64+7253dup	NM_006324.3:c.64+7252_64+7253dup	NM_006324.3:c.64+7251_64+7253dup	NM_006324.3:c.64+7248_64+7253dup
CFDP1 transcript variant X3	XM_011522814.3:c.64+7253=	XM_011522814.3:c.64+7237_64+7253del	XM_011522814.3:c.64+7238_64+7253del	XM_011522814.3:c.64+7239_64+7253del	XM_011522814.3:c.64+7240_64+7253del	XM_011522814.3:c.64+7241_64+7253del	XM_011522814.3:c.64+7242_64+7253del	XM_011522814.3:c.64+7243_64+7253del	XM_011522814.3:c.64+7244_64+7253del	XM_011522814.3:c.64+7245_64+7253del	XM_011522814.3:c.64+7246_64+7253del	XM_011522814.3:c.64+7247_64+7253del	XM_011522814.3:c.64+7249_64+7253del	XM_011522814.3:c.64+7250_64+7253del	XM_011522814.3:c.64+7251_64+7253del	XM_011522814.3:c.64+7252_64+7253del	XM_011522814.3:c.64+7253del	XM_011522814.3:c.64+7253dup	XM_011522814.3:c.64+7252_64+7253dup	XM_011522814.3:c.64+7251_64+7253dup	XM_011522814.3:c.64+7248_64+7253dup
CFDP1 transcript variant X7	XM_011522815.3:c.64+7253=	XM_011522815.3:c.64+7237_64+7253del	XM_011522815.3:c.64+7238_64+7253del	XM_011522815.3:c.64+7239_64+7253del	XM_011522815.3:c.64+7240_64+7253del	XM_011522815.3:c.64+7241_64+7253del	XM_011522815.3:c.64+7242_64+7253del	XM_011522815.3:c.64+7243_64+7253del	XM_011522815.3:c.64+7244_64+7253del	XM_011522815.3:c.64+7245_64+7253del	XM_011522815.3:c.64+7246_64+7253del	XM_011522815.3:c.64+7247_64+7253del	XM_011522815.3:c.64+7249_64+7253del	XM_011522815.3:c.64+7250_64+7253del	XM_011522815.3:c.64+7251_64+7253del	XM_011522815.3:c.64+7252_64+7253del	XM_011522815.3:c.64+7253del	XM_011522815.3:c.64+7253dup	XM_011522815.3:c.64+7252_64+7253dup	XM_011522815.3:c.64+7251_64+7253dup	XM_011522815.3:c.64+7248_64+7253dup
CFDP1 transcript variant X1	XM_047433503.1:c.64+7253=	XM_047433503.1:c.64+7237_64+7253del	XM_047433503.1:c.64+7238_64+7253del	XM_047433503.1:c.64+7239_64+7253del	XM_047433503.1:c.64+7240_64+7253del	XM_047433503.1:c.64+7241_64+7253del	XM_047433503.1:c.64+7242_64+7253del	XM_047433503.1:c.64+7243_64+7253del	XM_047433503.1:c.64+7244_64+7253del	XM_047433503.1:c.64+7245_64+7253del	XM_047433503.1:c.64+7246_64+7253del	XM_047433503.1:c.64+7247_64+7253del	XM_047433503.1:c.64+7249_64+7253del	XM_047433503.1:c.64+7250_64+7253del	XM_047433503.1:c.64+7251_64+7253del	XM_047433503.1:c.64+7252_64+7253del	XM_047433503.1:c.64+7253del	XM_047433503.1:c.64+7253dup	XM_047433503.1:c.64+7252_64+7253dup	XM_047433503.1:c.64+7251_64+7253dup	XM_047433503.1:c.64+7248_64+7253dup
CFDP1 transcript variant X2	XM_047433504.1:c.64+7253=	XM_047433504.1:c.64+7237_64+7253del	XM_047433504.1:c.64+7238_64+7253del	XM_047433504.1:c.64+7239_64+7253del	XM_047433504.1:c.64+7240_64+7253del	XM_047433504.1:c.64+7241_64+7253del	XM_047433504.1:c.64+7242_64+7253del	XM_047433504.1:c.64+7243_64+7253del	XM_047433504.1:c.64+7244_64+7253del	XM_047433504.1:c.64+7245_64+7253del	XM_047433504.1:c.64+7246_64+7253del	XM_047433504.1:c.64+7247_64+7253del	XM_047433504.1:c.64+7249_64+7253del	XM_047433504.1:c.64+7250_64+7253del	XM_047433504.1:c.64+7251_64+7253del	XM_047433504.1:c.64+7252_64+7253del	XM_047433504.1:c.64+7253del	XM_047433504.1:c.64+7253dup	XM_047433504.1:c.64+7252_64+7253dup	XM_047433504.1:c.64+7251_64+7253dup	XM_047433504.1:c.64+7248_64+7253dup

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#.

37 SubSNP, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HUMANGENOME_JCVI	ss95682037	Feb 13, 2009 (130)
2	EVA_GENOME_DK	ss1577013063	Apr 01, 2015 (144)
3	SWEGEN	ss3014790835	Nov 08, 2017 (151)
4	EVA_DECODE	ss3699596122	Jul 13, 2019 (153)
5	EVA_DECODE	ss3699596123	Jul 13, 2019 (153)
6	EVA_DECODE	ss3699596124	Jul 13, 2019 (153)
7	EVA_DECODE	ss3699596125	Jul 13, 2019 (153)
8	EVA_DECODE	ss3699596126	Jul 13, 2019 (153)
9	EVA_DECODE	ss3699596127	Jul 13, 2019 (153)
10	PACBIO	ss3793057405	Jul 13, 2019 (153)
11	PACBIO	ss3797942472	Jul 13, 2019 (153)
12	GNOMAD	ss4304009645	Apr 27, 2021 (155)
13	GNOMAD	ss4304009646	Apr 27, 2021 (155)
14	GNOMAD	ss4304009647	Apr 27, 2021 (155)
15	GNOMAD	ss4304009649	Apr 27, 2021 (155)
16	GNOMAD	ss4304009650	Apr 27, 2021 (155)
17	GNOMAD	ss4304009651	Apr 27, 2021 (155)
18	GNOMAD	ss4304009652	Apr 27, 2021 (155)
19	GNOMAD	ss4304009653	Apr 27, 2021 (155)
20	GNOMAD	ss4304009654	Apr 27, 2021 (155)
21	GNOMAD	ss4304009655	Apr 27, 2021 (155)
22	GNOMAD	ss4304009656	Apr 27, 2021 (155)
23	GNOMAD	ss4304009657	Apr 27, 2021 (155)
24	TOMMO_GENOMICS	ss5220367079	Apr 27, 2021 (155)
25	TOMMO_GENOMICS	ss5220367080	Apr 27, 2021 (155)
26	TOMMO_GENOMICS	ss5220367081	Apr 27, 2021 (155)
27	TOMMO_GENOMICS	ss5220367082	Apr 27, 2021 (155)
28	TOMMO_GENOMICS	ss5220367083	Apr 27, 2021 (155)
29	TOMMO_GENOMICS	ss5220367084	Apr 27, 2021 (155)
30	1000G_HIGH_COVERAGE	ss5301551594	Oct 17, 2022 (156)
31	1000G_HIGH_COVERAGE	ss5301551595	Oct 17, 2022 (156)
32	1000G_HIGH_COVERAGE	ss5301551596	Oct 17, 2022 (156)
33	TOMMO_GENOMICS	ss5775611977	Oct 17, 2022 (156)
34	TOMMO_GENOMICS	ss5775611978	Oct 17, 2022 (156)
35	TOMMO_GENOMICS	ss5775611979	Oct 17, 2022 (156)
36	TOMMO_GENOMICS	ss5775611980	Oct 17, 2022 (156)
37	TOMMO_GENOMICS	ss5775611981	Oct 17, 2022 (156)
38	The Danish reference pan genome	NC_000016.9 - 75459934	Apr 27, 2020 (154)
39	gnomAD - Genomes Submission ignored due to conflicting rows: Row 494596464 (NC_000016.10:75426035::A 25/32404) Row 494596465 (NC_000016.10:75426035::AAA 1/32404) Row 494596466 (NC_000016.10:75426035::AAAAAA 1/32404)...	-	Apr 27, 2021 (155)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 494596464 (NC_000016.10:75426035::A 25/32404) Row 494596465 (NC_000016.10:75426035::AAA 1/32404) Row 494596466 (NC_000016.10:75426035::AAAAAA 1/32404)...	-	Apr 27, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 494596464 (NC_000016.10:75426035::A 25/32404) Row 494596465 (NC_000016.10:75426035::AAA 1/32404) Row 494596466 (NC_000016.10:75426035::AAAAAA 1/32404)...	-	Apr 27, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 494596464 (NC_000016.10:75426035::A 25/32404) Row 494596465 (NC_000016.10:75426035::AAA 1/32404) Row 494596466 (NC_000016.10:75426035::AAAAAA 1/32404)...	-	Apr 27, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 494596464 (NC_000016.10:75426035::A 25/32404) Row 494596465 (NC_000016.10:75426035::AAA 1/32404) Row 494596466 (NC_000016.10:75426035::AAAAAA 1/32404)...	-	Apr 27, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 494596464 (NC_000016.10:75426035::A 25/32404) Row 494596465 (NC_000016.10:75426035::AAA 1/32404) Row 494596466 (NC_000016.10:75426035::AAAAAA 1/32404)...	-	Apr 27, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 494596464 (NC_000016.10:75426035::A 25/32404) Row 494596465 (NC_000016.10:75426035::AAA 1/32404) Row 494596466 (NC_000016.10:75426035::AAAAAA 1/32404)...	-	Apr 27, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 494596464 (NC_000016.10:75426035::A 25/32404) Row 494596465 (NC_000016.10:75426035::AAA 1/32404) Row 494596466 (NC_000016.10:75426035::AAAAAA 1/32404)...	-	Apr 27, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 494596464 (NC_000016.10:75426035::A 25/32404) Row 494596465 (NC_000016.10:75426035::AAA 1/32404) Row 494596466 (NC_000016.10:75426035::AAAAAA 1/32404)...	-	Apr 27, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 494596464 (NC_000016.10:75426035::A 25/32404) Row 494596465 (NC_000016.10:75426035::AAA 1/32404) Row 494596466 (NC_000016.10:75426035::AAAAAA 1/32404)...	-	Apr 27, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 494596464 (NC_000016.10:75426035::A 25/32404) Row 494596465 (NC_000016.10:75426035::AAA 1/32404) Row 494596466 (NC_000016.10:75426035::AAAAAA 1/32404)...	-	Apr 27, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 494596464 (NC_000016.10:75426035::A 25/32404) Row 494596465 (NC_000016.10:75426035::AAA 1/32404) Row 494596466 (NC_000016.10:75426035::AAAAAA 1/32404)...	-	Apr 27, 2021 (155)
51	8.3KJPN Submission ignored due to conflicting rows: Row 78336386 (NC_000016.9:75459933:AAA: 4314/15182) Row 78336387 (NC_000016.9:75459933:AA: 3331/15182) Row 78336388 (NC_000016.9:75459933:A: 505/15182)...	-	Apr 27, 2021 (155)
52	8.3KJPN Submission ignored due to conflicting rows: Row 78336386 (NC_000016.9:75459933:AAA: 4314/15182) Row 78336387 (NC_000016.9:75459933:AA: 3331/15182) Row 78336388 (NC_000016.9:75459933:A: 505/15182)...	-	Apr 27, 2021 (155)
53	8.3KJPN Submission ignored due to conflicting rows: Row 78336386 (NC_000016.9:75459933:AAA: 4314/15182) Row 78336387 (NC_000016.9:75459933:AA: 3331/15182) Row 78336388 (NC_000016.9:75459933:A: 505/15182)...	-	Apr 27, 2021 (155)
54	8.3KJPN Submission ignored due to conflicting rows: Row 78336386 (NC_000016.9:75459933:AAA: 4314/15182) Row 78336387 (NC_000016.9:75459933:AA: 3331/15182) Row 78336388 (NC_000016.9:75459933:A: 505/15182)...	-	Apr 27, 2021 (155)
55	8.3KJPN Submission ignored due to conflicting rows: Row 78336386 (NC_000016.9:75459933:AAA: 4314/15182) Row 78336387 (NC_000016.9:75459933:AA: 3331/15182) Row 78336388 (NC_000016.9:75459933:A: 505/15182)...	-	Apr 27, 2021 (155)
56	8.3KJPN Submission ignored due to conflicting rows: Row 78336386 (NC_000016.9:75459933:AAA: 4314/15182) Row 78336387 (NC_000016.9:75459933:AA: 3331/15182) Row 78336388 (NC_000016.9:75459933:A: 505/15182)...	-	Apr 27, 2021 (155)
57	14KJPN Submission ignored due to conflicting rows: Row 109449081 (NC_000016.10:75426035:AAA: 7435/22730) Row 109449082 (NC_000016.10:75426035:AA: 5633/22730) Row 109449083 (NC_000016.10:75426035:A: 834/22730)...	-	Oct 17, 2022 (156)
58	14KJPN Submission ignored due to conflicting rows: Row 109449081 (NC_000016.10:75426035:AAA: 7435/22730) Row 109449082 (NC_000016.10:75426035:AA: 5633/22730) Row 109449083 (NC_000016.10:75426035:A: 834/22730)...	-	Oct 17, 2022 (156)
59	14KJPN Submission ignored due to conflicting rows: Row 109449081 (NC_000016.10:75426035:AAA: 7435/22730) Row 109449082 (NC_000016.10:75426035:AA: 5633/22730) Row 109449083 (NC_000016.10:75426035:A: 834/22730)...	-	Oct 17, 2022 (156)
60	14KJPN Submission ignored due to conflicting rows: Row 109449081 (NC_000016.10:75426035:AAA: 7435/22730) Row 109449082 (NC_000016.10:75426035:AA: 5633/22730) Row 109449083 (NC_000016.10:75426035:A: 834/22730)...	-	Oct 17, 2022 (156)
61	14KJPN Submission ignored due to conflicting rows: Row 109449081 (NC_000016.10:75426035:AAA: 7435/22730) Row 109449082 (NC_000016.10:75426035:AA: 5633/22730) Row 109449083 (NC_000016.10:75426035:A: 834/22730)...	-	Oct 17, 2022 (156)
62	ALFA	NC_000016.10 - 75426036	Apr 27, 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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4304009657	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAA:	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
3879083054	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss4304009656	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAA:	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
3879083054	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
41098, ss1577013063	NC_000016.9:75459933:AAAAAAAAAAAAA… NC_000016.9:75459933:AAAAAAAAAAAAAAA:	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
3879083054	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss5220367084	NC_000016.9:75459933:AAAAAAAAAAAAA… NC_000016.9:75459933:AAAAAAAAAAAAAA:	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss5775611981	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAA:	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
3879083054	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss5220367082	NC_000016.9:75459933:AAAAAAAAAAAAA:	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4304009655	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAA:	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
3879083054	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4304009654	NC_000016.10:75426035:AAAAAAAAAAAA:	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
3879083054	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4304009653, ss5301551595	NC_000016.10:75426035:AAAAAAAAAAA:	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
3879083054	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4304009652, ss5301551596	NC_000016.10:75426035:AAAAAAAAAA:	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
3879083054	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4304009651	NC_000016.10:75426035:AAAAAAAAA:	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
3879083054	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4304009650	NC_000016.10:75426035:AAAAAAAA:	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
3879083054	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
3879083054	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3699596127, ss4304009649	NC_000016.10:75426035:AAAAA:	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
3879083054	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3014790835, ss5220367083	NC_000016.9:75459933:AAAA:	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5301551594, ss5775611980	NC_000016.10:75426035:AAAA:	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
3879083054	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3699596126	NC_000016.10:75426036:AAAA:	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3793057405, ss3797942472, ss5220367079	NC_000016.9:75459933:AAA:	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5775611977	NC_000016.10:75426035:AAA:	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
3879083054	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3699596125	NC_000016.10:75426037:AAA:	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5220367080	NC_000016.9:75459933:AA:	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5775611978	NC_000016.10:75426035:AA:	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
3879083054	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3699596124	NC_000016.10:75426038:AA:	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss95682037	NT_010498.15:29074158:AA:	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5220367081	NC_000016.9:75459933:A:	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5775611979	NC_000016.10:75426035:A:	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
3879083054	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3699596123	NC_000016.10:75426039:A:	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4304009645	NC_000016.10:75426035::A	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
3879083054	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3699596122	NC_000016.10:75426040::A	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
3879083054	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4304009646	NC_000016.10:75426035::AAA	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4304009647	NC_000016.10:75426035::AAAAAA	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3251059263	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAA:	NC_000016.10:75426035:AAAAAAAAAAAA… NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

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

No publications for rs71134711

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

rs71134711