Name: rs137932821
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.

rs137932821

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr16:88664578-88664603 (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)₁₆ / del(A)₁₄ / del(A)₁₃ / d…
del(A)₁₆ / 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 / dup(A)₇ / dup(A)₈ / dup(A)₁₀ / dup(A)₁₁ / dup(A)₁₂ / dup(A)₁₃ / dup(A)₁₅
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₁₆=0.0000 (0/2784, ALFA)
del(A)₁₄=0.0000 (0/2784, ALFA)
del(A)₁₃=0.0000 (0/2784, ALFA) (+ 16 more)
del(A)₁₂=0.0000 (0/2784, ALFA)
del(A)₁₁=0.0000 (0/2784, ALFA)
del(A)₁₀=0.0000 (0/2784, ALFA)
del(A)₉=0.0000 (0/2784, ALFA)
del(A)₈=0.0000 (0/2784, ALFA)
del(A)₇=0.0000 (0/2784, ALFA)
del(A)₆=0.0000 (0/2784, ALFA)
del(A)₅=0.0000 (0/2784, ALFA)
del(A)₄=0.0000 (0/2784, ALFA)
delAAA=0.0000 (0/2784, ALFA)
delAA=0.0000 (0/2784, ALFA)
delA=0.0000 (0/2784, ALFA)
dupA=0.0000 (0/2784, ALFA)
dupAA=0.0000 (0/2784, ALFA)
dup(A)₈=0.0000 (0/2784, ALFA)
dup(A)₁₁=0.0000 (0/2784, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SNAI3-AS1 : Intron Variant
MVD : 2KB Upstream 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	2784	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
European	Sub	2082	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
African	Sub	464	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	12	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	452	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	14	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	14	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 1	Sub	30	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	106	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	16	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	72	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=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	2784	(A)₂₆=1.0000	del(A)₁₆=0.0000, 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, dup(A)₈=0.0000, dup(A)₁₁=0.0000
Allele Frequency Aggregator	European	Sub	2082	(A)₂₆=1.0000	del(A)₁₆=0.0000, 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, dup(A)₈=0.0000, dup(A)₁₁=0.0000
Allele Frequency Aggregator	African	Sub	464	(A)₂₆=1.000	del(A)₁₆=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)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, dup(A)₈=0.000, dup(A)₁₁=0.000
Allele Frequency Aggregator	Latin American 2	Sub	106	(A)₂₆=1.000	del(A)₁₆=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)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, dup(A)₈=0.000, dup(A)₁₁=0.000
Allele Frequency Aggregator	Other	Sub	72	(A)₂₆=1.00	del(A)₁₆=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)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, dup(A)₈=0.00, dup(A)₁₁=0.00
Allele Frequency Aggregator	Latin American 1	Sub	30	(A)₂₆=1.00	del(A)₁₆=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)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, dup(A)₈=0.00, dup(A)₁₁=0.00
Allele Frequency Aggregator	South Asian	Sub	16	(A)₂₆=1.00	del(A)₁₆=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)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, dup(A)₈=0.00, dup(A)₁₁=0.00
Allele Frequency Aggregator	Asian	Sub	14	(A)₂₆=1.00	del(A)₁₆=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)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, dup(A)₈=0.00, dup(A)₁₁=0.00

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.88664588_88664603del
GRCh38.p14 chr 16	NC_000016.10:g.88664590_88664603del
GRCh38.p14 chr 16	NC_000016.10:g.88664591_88664603del
GRCh38.p14 chr 16	NC_000016.10:g.88664592_88664603del
GRCh38.p14 chr 16	NC_000016.10:g.88664593_88664603del
GRCh38.p14 chr 16	NC_000016.10:g.88664594_88664603del
GRCh38.p14 chr 16	NC_000016.10:g.88664595_88664603del
GRCh38.p14 chr 16	NC_000016.10:g.88664596_88664603del
GRCh38.p14 chr 16	NC_000016.10:g.88664597_88664603del
GRCh38.p14 chr 16	NC_000016.10:g.88664598_88664603del
GRCh38.p14 chr 16	NC_000016.10:g.88664599_88664603del
GRCh38.p14 chr 16	NC_000016.10:g.88664600_88664603del
GRCh38.p14 chr 16	NC_000016.10:g.88664601_88664603del
GRCh38.p14 chr 16	NC_000016.10:g.88664602_88664603del
GRCh38.p14 chr 16	NC_000016.10:g.88664603del
GRCh38.p14 chr 16	NC_000016.10:g.88664603dup
GRCh38.p14 chr 16	NC_000016.10:g.88664602_88664603dup
GRCh38.p14 chr 16	NC_000016.10:g.88664597_88664603dup
GRCh38.p14 chr 16	NC_000016.10:g.88664596_88664603dup
GRCh38.p14 chr 16	NC_000016.10:g.88664594_88664603dup
GRCh38.p14 chr 16	NC_000016.10:g.88664593_88664603dup
GRCh38.p14 chr 16	NC_000016.10:g.88664592_88664603dup
GRCh38.p14 chr 16	NC_000016.10:g.88664591_88664603dup
GRCh38.p14 chr 16	NC_000016.10:g.88664589_88664603dup
GRCh37.p13 chr 16	NC_000016.9:g.88730996_88731011del
GRCh37.p13 chr 16	NC_000016.9:g.88730998_88731011del
GRCh37.p13 chr 16	NC_000016.9:g.88730999_88731011del
GRCh37.p13 chr 16	NC_000016.9:g.88731000_88731011del
GRCh37.p13 chr 16	NC_000016.9:g.88731001_88731011del
GRCh37.p13 chr 16	NC_000016.9:g.88731002_88731011del
GRCh37.p13 chr 16	NC_000016.9:g.88731003_88731011del
GRCh37.p13 chr 16	NC_000016.9:g.88731004_88731011del
GRCh37.p13 chr 16	NC_000016.9:g.88731005_88731011del
GRCh37.p13 chr 16	NC_000016.9:g.88731006_88731011del
GRCh37.p13 chr 16	NC_000016.9:g.88731007_88731011del
GRCh37.p13 chr 16	NC_000016.9:g.88731008_88731011del
GRCh37.p13 chr 16	NC_000016.9:g.88731009_88731011del
GRCh37.p13 chr 16	NC_000016.9:g.88731010_88731011del
GRCh37.p13 chr 16	NC_000016.9:g.88731011del
GRCh37.p13 chr 16	NC_000016.9:g.88731011dup
GRCh37.p13 chr 16	NC_000016.9:g.88731010_88731011dup
GRCh37.p13 chr 16	NC_000016.9:g.88731005_88731011dup
GRCh37.p13 chr 16	NC_000016.9:g.88731004_88731011dup
GRCh37.p13 chr 16	NC_000016.9:g.88731002_88731011dup
GRCh37.p13 chr 16	NC_000016.9:g.88731001_88731011dup
GRCh37.p13 chr 16	NC_000016.9:g.88731000_88731011dup
GRCh37.p13 chr 16	NC_000016.9:g.88730999_88731011dup
GRCh37.p13 chr 16	NC_000016.9:g.88730997_88731011dup
MVD RefSeqGene	NG_052674.1:g.3561_3576del
MVD RefSeqGene	NG_052674.1:g.3563_3576del
MVD RefSeqGene	NG_052674.1:g.3564_3576del
MVD RefSeqGene	NG_052674.1:g.3565_3576del
MVD RefSeqGene	NG_052674.1:g.3566_3576del
MVD RefSeqGene	NG_052674.1:g.3567_3576del
MVD RefSeqGene	NG_052674.1:g.3568_3576del
MVD RefSeqGene	NG_052674.1:g.3569_3576del
MVD RefSeqGene	NG_052674.1:g.3570_3576del
MVD RefSeqGene	NG_052674.1:g.3571_3576del
MVD RefSeqGene	NG_052674.1:g.3572_3576del
MVD RefSeqGene	NG_052674.1:g.3573_3576del
MVD RefSeqGene	NG_052674.1:g.3574_3576del
MVD RefSeqGene	NG_052674.1:g.3575_3576del
MVD RefSeqGene	NG_052674.1:g.3576del
MVD RefSeqGene	NG_052674.1:g.3576dup
MVD RefSeqGene	NG_052674.1:g.3575_3576dup
MVD RefSeqGene	NG_052674.1:g.3570_3576dup
MVD RefSeqGene	NG_052674.1:g.3569_3576dup
MVD RefSeqGene	NG_052674.1:g.3567_3576dup
MVD RefSeqGene	NG_052674.1:g.3566_3576dup
MVD RefSeqGene	NG_052674.1:g.3565_3576dup
MVD RefSeqGene	NG_052674.1:g.3564_3576dup
MVD RefSeqGene	NG_052674.1:g.3562_3576dup

Gene: MVD, mevalonate diphosphate decarboxylase (minus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
MVD transcript	NM_002461.3:c.	N/A	Upstream Transcript Variant
MVD transcript variant X1	XM_011523086.3:c.	N/A	Upstream Transcript Variant
MVD transcript variant X2	XM_011523087.3:c.	N/A	Upstream Transcript Variant
MVD transcript variant X3	XM_011523088.3:c.	N/A	Upstream Transcript Variant
MVD transcript variant X4	XM_011523089.3:c.	N/A	Upstream Transcript Variant

Gene: SNAI3-AS1, SNAI3 antisense RNA 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SNAI3-AS1 transcript variant 2	NR_024399.1:n.	N/A	Intron Variant
SNAI3-AS1 transcript variant 1	NR_024402.2: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)₂₆=	del(A)₁₆	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	dup(A)₇	dup(A)₈	dup(A)₁₀	dup(A)₁₁	dup(A)₁₂	dup(A)₁₃	dup(A)₁₅
GRCh38.p14 chr 16	NC_000016.10:g.88664578_88664603=	NC_000016.10:g.88664588_88664603del	NC_000016.10:g.88664590_88664603del	NC_000016.10:g.88664591_88664603del	NC_000016.10:g.88664592_88664603del	NC_000016.10:g.88664593_88664603del	NC_000016.10:g.88664594_88664603del	NC_000016.10:g.88664595_88664603del	NC_000016.10:g.88664596_88664603del	NC_000016.10:g.88664597_88664603del	NC_000016.10:g.88664598_88664603del	NC_000016.10:g.88664599_88664603del	NC_000016.10:g.88664600_88664603del	NC_000016.10:g.88664601_88664603del	NC_000016.10:g.88664602_88664603del	NC_000016.10:g.88664603del	NC_000016.10:g.88664603dup	NC_000016.10:g.88664602_88664603dup	NC_000016.10:g.88664597_88664603dup	NC_000016.10:g.88664596_88664603dup	NC_000016.10:g.88664594_88664603dup	NC_000016.10:g.88664593_88664603dup	NC_000016.10:g.88664592_88664603dup	NC_000016.10:g.88664591_88664603dup	NC_000016.10:g.88664589_88664603dup
GRCh37.p13 chr 16	NC_000016.9:g.88730986_88731011=	NC_000016.9:g.88730996_88731011del	NC_000016.9:g.88730998_88731011del	NC_000016.9:g.88730999_88731011del	NC_000016.9:g.88731000_88731011del	NC_000016.9:g.88731001_88731011del	NC_000016.9:g.88731002_88731011del	NC_000016.9:g.88731003_88731011del	NC_000016.9:g.88731004_88731011del	NC_000016.9:g.88731005_88731011del	NC_000016.9:g.88731006_88731011del	NC_000016.9:g.88731007_88731011del	NC_000016.9:g.88731008_88731011del	NC_000016.9:g.88731009_88731011del	NC_000016.9:g.88731010_88731011del	NC_000016.9:g.88731011del	NC_000016.9:g.88731011dup	NC_000016.9:g.88731010_88731011dup	NC_000016.9:g.88731005_88731011dup	NC_000016.9:g.88731004_88731011dup	NC_000016.9:g.88731002_88731011dup	NC_000016.9:g.88731001_88731011dup	NC_000016.9:g.88731000_88731011dup	NC_000016.9:g.88730999_88731011dup	NC_000016.9:g.88730997_88731011dup
MVD RefSeqGene	NG_052674.1:g.3551_3576=	NG_052674.1:g.3561_3576del	NG_052674.1:g.3563_3576del	NG_052674.1:g.3564_3576del	NG_052674.1:g.3565_3576del	NG_052674.1:g.3566_3576del	NG_052674.1:g.3567_3576del	NG_052674.1:g.3568_3576del	NG_052674.1:g.3569_3576del	NG_052674.1:g.3570_3576del	NG_052674.1:g.3571_3576del	NG_052674.1:g.3572_3576del	NG_052674.1:g.3573_3576del	NG_052674.1:g.3574_3576del	NG_052674.1:g.3575_3576del	NG_052674.1:g.3576del	NG_052674.1:g.3576dup	NG_052674.1:g.3575_3576dup	NG_052674.1:g.3570_3576dup	NG_052674.1:g.3569_3576dup	NG_052674.1:g.3567_3576dup	NG_052674.1:g.3566_3576dup	NG_052674.1:g.3565_3576dup	NG_052674.1:g.3564_3576dup	NG_052674.1:g.3562_3576dup

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#.

53 SubSNP, 34 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HUMANGENOME_JCVI	ss95685057	Mar 15, 2016 (147)
2	HUMANGENOME_JCVI	ss96717183	Mar 15, 2016 (147)
3	BUSHMAN	ss193432821	Mar 15, 2016 (147)
4	PJP	ss294900319	May 09, 2011 (134)
5	SWEGEN	ss3015019224	Nov 08, 2017 (151)
6	MCHAISSO	ss3063855577	Nov 08, 2017 (151)
7	MCHAISSO	ss3065634115	Nov 08, 2017 (151)
8	EVA_DECODE	ss3699877754	Jul 13, 2019 (153)
9	EVA_DECODE	ss3699877755	Jul 13, 2019 (153)
10	EVA_DECODE	ss3699877756	Jul 13, 2019 (153)
11	EVA_DECODE	ss3699877757	Jul 13, 2019 (153)
12	ACPOP	ss3741780270	Jul 13, 2019 (153)
13	ACPOP	ss3741780271	Jul 13, 2019 (153)
14	PACBIO	ss3793091904	Jul 13, 2019 (153)
15	PACBIO	ss3797977284	Jul 13, 2019 (153)
16	EVA	ss3834726018	Apr 27, 2020 (154)
17	GNOMAD	ss4306274430	Apr 26, 2021 (155)
18	GNOMAD	ss4306274431	Apr 26, 2021 (155)
19	GNOMAD	ss4306274432	Apr 26, 2021 (155)
20	GNOMAD	ss4306274433	Apr 26, 2021 (155)
21	GNOMAD	ss4306274434	Apr 26, 2021 (155)
22	GNOMAD	ss4306274435	Apr 26, 2021 (155)
23	GNOMAD	ss4306274436	Apr 26, 2021 (155)
24	GNOMAD	ss4306274437	Apr 26, 2021 (155)
25	GNOMAD	ss4306274438	Apr 26, 2021 (155)
26	GNOMAD	ss4306274439	Apr 26, 2021 (155)
27	GNOMAD	ss4306274440	Apr 26, 2021 (155)
28	GNOMAD	ss4306274441	Apr 26, 2021 (155)
29	GNOMAD	ss4306274442	Apr 26, 2021 (155)
30	GNOMAD	ss4306274443	Apr 26, 2021 (155)
31	GNOMAD	ss4306274444	Apr 26, 2021 (155)
32	GNOMAD	ss4306274445	Apr 26, 2021 (155)
33	GNOMAD	ss4306274446	Apr 26, 2021 (155)
34	GNOMAD	ss4306274447	Apr 26, 2021 (155)
35	GNOMAD	ss4306274448	Apr 26, 2021 (155)
36	GNOMAD	ss4306274449	Apr 26, 2021 (155)
37	GNOMAD	ss4306274450	Apr 26, 2021 (155)
38	TOMMO_GENOMICS	ss5220997775	Apr 26, 2021 (155)
39	TOMMO_GENOMICS	ss5220997776	Apr 26, 2021 (155)
40	TOMMO_GENOMICS	ss5220997777	Apr 26, 2021 (155)
41	TOMMO_GENOMICS	ss5220997778	Apr 26, 2021 (155)
42	TOMMO_GENOMICS	ss5220997779	Apr 26, 2021 (155)
43	HUGCELL_USP	ss5495286217	Oct 16, 2022 (156)
44	HUGCELL_USP	ss5495286218	Oct 16, 2022 (156)
45	HUGCELL_USP	ss5495286219	Oct 16, 2022 (156)
46	HUGCELL_USP	ss5495286220	Oct 16, 2022 (156)
47	HUGCELL_USP	ss5495286221	Oct 16, 2022 (156)
48	HUGCELL_USP	ss5495286222	Oct 16, 2022 (156)
49	TOMMO_GENOMICS	ss5776424496	Oct 16, 2022 (156)
50	TOMMO_GENOMICS	ss5776424497	Oct 16, 2022 (156)
51	TOMMO_GENOMICS	ss5776424498	Oct 16, 2022 (156)
52	TOMMO_GENOMICS	ss5776424499	Oct 16, 2022 (156)
53	TOMMO_GENOMICS	ss5776424500	Oct 16, 2022 (156)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 498602813 (NC_000016.10:88664577::A 5/48136) Row 498602814 (NC_000016.10:88664577::AA 5/48132) Row 498602815 (NC_000016.10:88664577::AAAAAAA 2/48136)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 498602813 (NC_000016.10:88664577::A 5/48136) Row 498602814 (NC_000016.10:88664577::AA 5/48132) Row 498602815 (NC_000016.10:88664577::AAAAAAA 2/48136)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 498602813 (NC_000016.10:88664577::A 5/48136) Row 498602814 (NC_000016.10:88664577::AA 5/48132) Row 498602815 (NC_000016.10:88664577::AAAAAAA 2/48136)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 498602813 (NC_000016.10:88664577::A 5/48136) Row 498602814 (NC_000016.10:88664577::AA 5/48132) Row 498602815 (NC_000016.10:88664577::AAAAAAA 2/48136)...	-	Apr 26, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 498602813 (NC_000016.10:88664577::A 5/48136) Row 498602814 (NC_000016.10:88664577::AA 5/48132) Row 498602815 (NC_000016.10:88664577::AAAAAAA 2/48136)...	-	Apr 26, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 498602813 (NC_000016.10:88664577::A 5/48136) Row 498602814 (NC_000016.10:88664577::AA 5/48132) Row 498602815 (NC_000016.10:88664577::AAAAAAA 2/48136)...	-	Apr 26, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 498602813 (NC_000016.10:88664577::A 5/48136) Row 498602814 (NC_000016.10:88664577::AA 5/48132) Row 498602815 (NC_000016.10:88664577::AAAAAAA 2/48136)...	-	Apr 26, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 498602813 (NC_000016.10:88664577::A 5/48136) Row 498602814 (NC_000016.10:88664577::AA 5/48132) Row 498602815 (NC_000016.10:88664577::AAAAAAA 2/48136)...	-	Apr 26, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 498602813 (NC_000016.10:88664577::A 5/48136) Row 498602814 (NC_000016.10:88664577::AA 5/48132) Row 498602815 (NC_000016.10:88664577::AAAAAAA 2/48136)...	-	Apr 26, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 498602813 (NC_000016.10:88664577::A 5/48136) Row 498602814 (NC_000016.10:88664577::AA 5/48132) Row 498602815 (NC_000016.10:88664577::AAAAAAA 2/48136)...	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 498602813 (NC_000016.10:88664577::A 5/48136) Row 498602814 (NC_000016.10:88664577::AA 5/48132) Row 498602815 (NC_000016.10:88664577::AAAAAAA 2/48136)...	-	Apr 26, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 498602813 (NC_000016.10:88664577::A 5/48136) Row 498602814 (NC_000016.10:88664577::AA 5/48132) Row 498602815 (NC_000016.10:88664577::AAAAAAA 2/48136)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 498602813 (NC_000016.10:88664577::A 5/48136) Row 498602814 (NC_000016.10:88664577::AA 5/48132) Row 498602815 (NC_000016.10:88664577::AAAAAAA 2/48136)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 498602813 (NC_000016.10:88664577::A 5/48136) Row 498602814 (NC_000016.10:88664577::AA 5/48132) Row 498602815 (NC_000016.10:88664577::AAAAAAA 2/48136)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 498602813 (NC_000016.10:88664577::A 5/48136) Row 498602814 (NC_000016.10:88664577::AA 5/48132) Row 498602815 (NC_000016.10:88664577::AAAAAAA 2/48136)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 498602813 (NC_000016.10:88664577::A 5/48136) Row 498602814 (NC_000016.10:88664577::AA 5/48132) Row 498602815 (NC_000016.10:88664577::AAAAAAA 2/48136)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 498602813 (NC_000016.10:88664577::A 5/48136) Row 498602814 (NC_000016.10:88664577::AA 5/48132) Row 498602815 (NC_000016.10:88664577::AAAAAAA 2/48136)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 498602813 (NC_000016.10:88664577::A 5/48136) Row 498602814 (NC_000016.10:88664577::AA 5/48132) Row 498602815 (NC_000016.10:88664577::AAAAAAA 2/48136)...	-	Apr 26, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 498602813 (NC_000016.10:88664577::A 5/48136) Row 498602814 (NC_000016.10:88664577::AA 5/48132) Row 498602815 (NC_000016.10:88664577::AAAAAAA 2/48136)...	-	Apr 26, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 498602813 (NC_000016.10:88664577::A 5/48136) Row 498602814 (NC_000016.10:88664577::AA 5/48132) Row 498602815 (NC_000016.10:88664577::AAAAAAA 2/48136)...	-	Apr 26, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 498602813 (NC_000016.10:88664577::A 5/48136) Row 498602814 (NC_000016.10:88664577::AA 5/48132) Row 498602815 (NC_000016.10:88664577::AAAAAAA 2/48136)...	-	Apr 26, 2021 (155)
75	Northern Sweden Submission ignored due to conflicting rows: Row 15065135 (NC_000016.9:88730985:AAA: 8/418) Row 15065136 (NC_000016.9:88730985::AAAAAAAAAAAAA 5/418)	-	Jul 13, 2019 (153)
76	Northern Sweden Submission ignored due to conflicting rows: Row 15065135 (NC_000016.9:88730985:AAA: 8/418) Row 15065136 (NC_000016.9:88730985::AAAAAAAAAAAAA 5/418)	-	Jul 13, 2019 (153)
77	8.3KJPN Submission ignored due to conflicting rows: Row 78967082 (NC_000016.9:88730985:AAA: 2503/12276) Row 78967083 (NC_000016.9:88730985:AAAA: 478/12276) Row 78967084 (NC_000016.9:88730985:AA: 1012/12276)...	-	Apr 26, 2021 (155)
78	8.3KJPN Submission ignored due to conflicting rows: Row 78967082 (NC_000016.9:88730985:AAA: 2503/12276) Row 78967083 (NC_000016.9:88730985:AAAA: 478/12276) Row 78967084 (NC_000016.9:88730985:AA: 1012/12276)...	-	Apr 26, 2021 (155)
79	8.3KJPN Submission ignored due to conflicting rows: Row 78967082 (NC_000016.9:88730985:AAA: 2503/12276) Row 78967083 (NC_000016.9:88730985:AAAA: 478/12276) Row 78967084 (NC_000016.9:88730985:AA: 1012/12276)...	-	Apr 26, 2021 (155)
80	8.3KJPN Submission ignored due to conflicting rows: Row 78967082 (NC_000016.9:88730985:AAA: 2503/12276) Row 78967083 (NC_000016.9:88730985:AAAA: 478/12276) Row 78967084 (NC_000016.9:88730985:AA: 1012/12276)...	-	Apr 26, 2021 (155)
81	8.3KJPN Submission ignored due to conflicting rows: Row 78967082 (NC_000016.9:88730985:AAA: 2503/12276) Row 78967083 (NC_000016.9:88730985:AAAA: 478/12276) Row 78967084 (NC_000016.9:88730985:AA: 1012/12276)...	-	Apr 26, 2021 (155)
82	14KJPN Submission ignored due to conflicting rows: Row 110261600 (NC_000016.10:88664577:AAA: 6609/24818) Row 110261601 (NC_000016.10:88664577:AAAA: 1145/24818) Row 110261602 (NC_000016.10:88664577:AA: 2812/24818)...	-	Oct 16, 2022 (156)
83	14KJPN Submission ignored due to conflicting rows: Row 110261600 (NC_000016.10:88664577:AAA: 6609/24818) Row 110261601 (NC_000016.10:88664577:AAAA: 1145/24818) Row 110261602 (NC_000016.10:88664577:AA: 2812/24818)...	-	Oct 16, 2022 (156)
84	14KJPN Submission ignored due to conflicting rows: Row 110261600 (NC_000016.10:88664577:AAA: 6609/24818) Row 110261601 (NC_000016.10:88664577:AAAA: 1145/24818) Row 110261602 (NC_000016.10:88664577:AA: 2812/24818)...	-	Oct 16, 2022 (156)
85	14KJPN Submission ignored due to conflicting rows: Row 110261600 (NC_000016.10:88664577:AAA: 6609/24818) Row 110261601 (NC_000016.10:88664577:AAAA: 1145/24818) Row 110261602 (NC_000016.10:88664577:AA: 2812/24818)...	-	Oct 16, 2022 (156)
86	14KJPN Submission ignored due to conflicting rows: Row 110261600 (NC_000016.10:88664577:AAA: 6609/24818) Row 110261601 (NC_000016.10:88664577:AAAA: 1145/24818) Row 110261602 (NC_000016.10:88664577:AA: 2812/24818)...	-	Oct 16, 2022 (156)
87	ALFA	NC_000016.10 - 88664578	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)
rs111607353	Oct 18, 2011 (136)
rs71158741	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss5220997778	NC_000016.9:88730985:AAAAAAAAAAAAA… NC_000016.9:88730985:AAAAAAAAAAAAAAAA:	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
ss5776424499	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAA:	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA
10615236084	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
ss4306274450	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAA:	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
10615236084	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4306274449	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAA:	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
10615236084	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4306274448	NC_000016.10:88664577:AAAAAAAAAAAA:	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
10615236084	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4306274447, ss5495286221	NC_000016.10:88664577:AAAAAAAAAAA:	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
10615236084	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss193432821	NT_010542.15:291602:AAAAAAAAAAA:	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4306274446	NC_000016.10:88664577:AAAAAAAAAA:	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
10615236084	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3015019224	NC_000016.9:88730985:AAAAAAAAA:	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3065634115, ss3699877757, ss4306274445, ss5495286219	NC_000016.10:88664577:AAAAAAAAA:	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
10615236084	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4306274444	NC_000016.10:88664577:AAAAAAAA:	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
10615236084	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4306274443	NC_000016.10:88664577:AAAAAAA:	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
10615236084	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4306274442	NC_000016.10:88664577:AAAAAA:	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
10615236084	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4306274441	NC_000016.10:88664577:AAAAA:	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
10615236084	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss5220997776	NC_000016.9:88730985:AAAA:	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4306274440, ss5495286222, ss5776424497	NC_000016.10:88664577:AAAA:	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
10615236084	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss294900319	NC_000016.8:87258509:AAA:	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3741780270, ss3793091904, ss3797977284, ss5220997775	NC_000016.9:88730985:AAA:	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5495286217, ss5776424496	NC_000016.10:88664577:AAA:	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
10615236084	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3699877756	NC_000016.10:88664583:AAA:	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss96717183	NT_010542.15:291622:AAA:	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss95685057	NT_010542.15:291625:AAA:	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5220997777	NC_000016.9:88730985:AA:	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3063855577, ss4306274439, ss5495286220, ss5776424498	NC_000016.10:88664577:AA:	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
10615236084	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3699877755	NC_000016.10:88664584:AA:	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3834726018, ss5220997779	NC_000016.9:88730985:A:	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4306274438, ss5495286218, ss5776424500	NC_000016.10:88664577:A:	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
10615236084	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4306274430	NC_000016.10:88664577::A	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
10615236084	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3699877754	NC_000016.10:88664586::A	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4306274431	NC_000016.10:88664577::AA	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
10615236084	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4306274432	NC_000016.10:88664577::AAAAAAA	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
10615236084	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4306274433	NC_000016.10:88664577::AAAAAAAAAA	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4306274434	NC_000016.10:88664577::AAAAAAAAAAA	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
10615236084	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4306274435	NC_000016.10:88664577::AAAAAAAAAAAA	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3741780271	NC_000016.9:88730985::AAAAAAAAAAAAA	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4306274436	NC_000016.10:88664577::AAAAAAAAAAA… NC_000016.10:88664577::AAAAAAAAAAAAA	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4306274437	NC_000016.10:88664577::AAAAAAAAAAA… NC_000016.10:88664577::AAAAAAAAAAAAAAA	NC_000016.10:88664577:AAAAAAAAAAAA… NC_000016.10:88664577:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(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 rs137932821

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

rs137932821