Name: rs66528376
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.

rs66528376

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:190380028-190380038 (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)₇ / del(A)₅ / del(A)₄ / delA…
del(A)₇ / del(A)₅ / del(A)₄ / delAA / delA / dupA
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₇=0.000008 (2/264690, TOPMED)
delA=0.44491 (12437/27954, 14KJPN)
delA=0.46443 (7782/16756, 8.3KJPN) (+ 5 more)
delA=0.2154 (1854/8608, ALFA)
delA=0.4458 (1718/3854, ALSPAC)
delA=0.4531 (1680/3708, TWINSUK)
delA=0.4476 (820/1832, Korea1K)
delA=0.402 (241/600, NorthernSweden)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: BRINP3 : 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	8608	AAAAAAAAAAA=0.7843	AAAA=0.0000, AAAAAA=0.0000, AAAAAAA=0.0000, AAAAAAAAA=0.0003, AAAAAAAAAA=0.2154, AAAAAAAAAAAA=0.0000	0.661009	0.091839	0.247152	32
European	Sub	6786	AAAAAAAAAAA=0.7271	AAAA=0.0000, AAAAAA=0.0000, AAAAAAA=0.0000, AAAAAAAAA=0.0004, AAAAAAAAAA=0.2725, AAAAAAAAAAAA=0.0000	0.571091	0.116224	0.312684	32
African	Sub	1384	AAAAAAAAAAA=1.0000	AAAA=0.0000, AAAAAA=0.0000, AAAAAAA=0.0000, AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	58	AAAAAAAAAAA=1.00	AAAA=0.00, AAAAAA=0.00, AAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	1326	AAAAAAAAAAA=1.0000	AAAA=0.0000, AAAAAA=0.0000, AAAAAAA=0.0000, AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	24	AAAAAAAAAAA=1.00	AAAA=0.00, AAAAAA=0.00, AAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	16	AAAAAAAAAAA=1.00	AAAA=0.00, AAAAAA=0.00, AAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	8	AAAAAAAAAAA=1.0	AAAA=0.0, AAAAAA=0.0, AAAAAAA=0.0, AAAAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	48	AAAAAAAAAAA=1.00	AAAA=0.00, AAAAAA=0.00, AAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	148	AAAAAAAAAAA=1.000	AAAA=0.000, AAAAAA=0.000, AAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	34	AAAAAAAAAAA=1.00	AAAA=0.00, AAAAAA=0.00, AAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	184	AAAAAAAAAAA=0.973	AAAA=0.000, AAAAAA=0.000, AAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAA=0.027, AAAAAAAAAAAA=0.000	0.956522	0.01087	0.032609	8

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
TopMed	Global	Study-wide	264690	(A)₁₁=0.999992	del(A)₇=0.000008
14KJPN	JAPANESE	Study-wide	27954	(A)₁₁=0.55509	delA=0.44491
8.3KJPN	JAPANESE	Study-wide	16756	(A)₁₁=0.53557	delA=0.46443
Allele Frequency Aggregator	Total	Global	8608	(A)₁₁=0.7843	del(A)₇=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAA=0.0003, delA=0.2154, dupA=0.0000
Allele Frequency Aggregator	European	Sub	6786	(A)₁₁=0.7271	del(A)₇=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAA=0.0004, delA=0.2725, dupA=0.0000
Allele Frequency Aggregator	African	Sub	1384	(A)₁₁=1.0000	del(A)₇=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000
Allele Frequency Aggregator	Other	Sub	184	(A)₁₁=0.973	del(A)₇=0.000, del(A)₅=0.000, del(A)₄=0.000, delAA=0.000, delA=0.027, dupA=0.000
Allele Frequency Aggregator	Latin American 2	Sub	148	(A)₁₁=1.000	del(A)₇=0.000, del(A)₅=0.000, del(A)₄=0.000, delAA=0.000, delA=0.000, dupA=0.000
Allele Frequency Aggregator	Latin American 1	Sub	48	(A)₁₁=1.00	del(A)₇=0.00, del(A)₅=0.00, del(A)₄=0.00, delAA=0.00, delA=0.00, dupA=0.00
Allele Frequency Aggregator	South Asian	Sub	34	(A)₁₁=1.00	del(A)₇=0.00, del(A)₅=0.00, del(A)₄=0.00, delAA=0.00, delA=0.00, dupA=0.00
Allele Frequency Aggregator	Asian	Sub	24	(A)₁₁=1.00	del(A)₇=0.00, del(A)₅=0.00, del(A)₄=0.00, delAA=0.00, delA=0.00, dupA=0.00
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	(A)₁₁=0.5542	delA=0.4458
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	(A)₁₁=0.5469	delA=0.4531
Korean Genome Project	KOREAN	Study-wide	1832	(A)₁₁=0.5524	delA=0.4476
Northern Sweden	ACPOP	Study-wide	600	(A)₁₁=0.598	delA=0.402

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 1	NC_000001.11:g.190380032_190380038del
GRCh38.p14 chr 1	NC_000001.11:g.190380034_190380038del
GRCh38.p14 chr 1	NC_000001.11:g.190380035_190380038del
GRCh38.p14 chr 1	NC_000001.11:g.190380037_190380038del
GRCh38.p14 chr 1	NC_000001.11:g.190380038del
GRCh38.p14 chr 1	NC_000001.11:g.190380038dup
GRCh37.p13 chr 1	NC_000001.10:g.190349162_190349168del
GRCh37.p13 chr 1	NC_000001.10:g.190349164_190349168del
GRCh37.p13 chr 1	NC_000001.10:g.190349165_190349168del
GRCh37.p13 chr 1	NC_000001.10:g.190349167_190349168del
GRCh37.p13 chr 1	NC_000001.10:g.190349168del
GRCh37.p13 chr 1	NC_000001.10:g.190349168dup

Gene: BRINP3, BMP/retinoic acid inducible neural specific 3 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
BRINP3 transcript variant 2	NM_001317188.2:c.121+7462… NM_001317188.2:c.121+74621_121+74627del	N/A	Intron Variant
BRINP3 transcript variant 1	NM_199051.3:c.236+74621_2… NM_199051.3:c.236+74621_236+74627del	N/A	Intron Variant
BRINP3 transcript variant X5	XM_011509472.3:c.146+5915… XM_011509472.3:c.146+59153_146+59159del	N/A	Intron Variant
BRINP3 transcript variant X8	XM_011509475.3:c.107+5915… XM_011509475.3:c.107+59153_107+59159del	N/A	Intron Variant
BRINP3 transcript variant X9	XM_011509476.3:c.121+7462… XM_011509476.3:c.121+74621_121+74627del	N/A	Intron Variant
BRINP3 transcript variant X4	XM_017001125.2:c.236+7462… XM_017001125.2:c.236+74621_236+74627del	N/A	Intron Variant
BRINP3 transcript variant X2	XM_017001126.2:c.236+7462… XM_017001126.2:c.236+74621_236+74627del	N/A	Intron Variant
BRINP3 transcript variant X6	XM_017001127.2:c.146+5915… XM_017001127.2:c.146+59153_146+59159del	N/A	Intron Variant
BRINP3 transcript variant X7	XM_017001128.2:c.146+5915… XM_017001128.2:c.146+59153_146+59159del	N/A	Intron Variant
BRINP3 transcript variant X10	XM_017001129.2:c.121+7462… XM_017001129.2:c.121+74621_121+74627del	N/A	Intron Variant
BRINP3 transcript variant X11	XM_017001132.2:c.236+7462… XM_017001132.2:c.236+74621_236+74627del	N/A	Intron Variant
BRINP3 transcript variant X12	XM_017001133.2:c.236+7462… XM_017001133.2:c.236+74621_236+74627del	N/A	Intron Variant
BRINP3 transcript variant X1	XM_047419245.1:c.236+7462… XM_047419245.1:c.236+74621_236+74627del	N/A	Intron Variant
BRINP3 transcript variant X3	XM_047419250.1:c.236+7462… XM_047419250.1:c.236+74621_236+74627del	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)₁₁=	del(A)₇	del(A)₅	del(A)₄	delAA	delA	dupA
GRCh38.p14 chr 1	NC_000001.11:g.190380028_190380038=	NC_000001.11:g.190380032_190380038del	NC_000001.11:g.190380034_190380038del	NC_000001.11:g.190380035_190380038del	NC_000001.11:g.190380037_190380038del	NC_000001.11:g.190380038del	NC_000001.11:g.190380038dup
GRCh37.p13 chr 1	NC_000001.10:g.190349158_190349168=	NC_000001.10:g.190349162_190349168del	NC_000001.10:g.190349164_190349168del	NC_000001.10:g.190349165_190349168del	NC_000001.10:g.190349167_190349168del	NC_000001.10:g.190349168del	NC_000001.10:g.190349168dup
BRINP3 transcript variant 2	NM_001317188.2:c.121+74627=	NM_001317188.2:c.121+74621_121+74627del	NM_001317188.2:c.121+74623_121+74627del	NM_001317188.2:c.121+74624_121+74627del	NM_001317188.2:c.121+74626_121+74627del	NM_001317188.2:c.121+74627del	NM_001317188.2:c.121+74627dup
BRINP3 transcript	NM_199051.1:c.236+74627=	NM_199051.1:c.236+74621_236+74627del	NM_199051.1:c.236+74623_236+74627del	NM_199051.1:c.236+74624_236+74627del	NM_199051.1:c.236+74626_236+74627del	NM_199051.1:c.236+74627del	NM_199051.1:c.236+74627dup
BRINP3 transcript variant 1	NM_199051.3:c.236+74627=	NM_199051.3:c.236+74621_236+74627del	NM_199051.3:c.236+74623_236+74627del	NM_199051.3:c.236+74624_236+74627del	NM_199051.3:c.236+74626_236+74627del	NM_199051.3:c.236+74627del	NM_199051.3:c.236+74627dup
BRINP3 transcript variant X2	XM_005245117.1:c.236+74627=	XM_005245117.1:c.236+74621_236+74627del	XM_005245117.1:c.236+74623_236+74627del	XM_005245117.1:c.236+74624_236+74627del	XM_005245117.1:c.236+74626_236+74627del	XM_005245117.1:c.236+74627del	XM_005245117.1:c.236+74627dup
FAM5C transcript variant X2	XM_005245118.1:c.236+74627=	XM_005245118.1:c.236+74621_236+74627del	XM_005245118.1:c.236+74623_236+74627del	XM_005245118.1:c.236+74624_236+74627del	XM_005245118.1:c.236+74626_236+74627del	XM_005245118.1:c.236+74627del	XM_005245118.1:c.236+74627dup
BRINP3 transcript variant X3	XM_005245119.1:c.236+74627=	XM_005245119.1:c.236+74621_236+74627del	XM_005245119.1:c.236+74623_236+74627del	XM_005245119.1:c.236+74624_236+74627del	XM_005245119.1:c.236+74626_236+74627del	XM_005245119.1:c.236+74627del	XM_005245119.1:c.236+74627dup
BRINP3 transcript variant X4	XM_005245120.1:c.236+74627=	XM_005245120.1:c.236+74621_236+74627del	XM_005245120.1:c.236+74623_236+74627del	XM_005245120.1:c.236+74624_236+74627del	XM_005245120.1:c.236+74626_236+74627del	XM_005245120.1:c.236+74627del	XM_005245120.1:c.236+74627dup
FAM5C transcript variant X5	XM_005245121.1:c.121+74627=	XM_005245121.1:c.121+74621_121+74627del	XM_005245121.1:c.121+74623_121+74627del	XM_005245121.1:c.121+74624_121+74627del	XM_005245121.1:c.121+74626_121+74627del	XM_005245121.1:c.121+74627del	XM_005245121.1:c.121+74627dup
FAM5C transcript variant X6	XM_005245122.1:c.121+74627=	XM_005245122.1:c.121+74621_121+74627del	XM_005245122.1:c.121+74623_121+74627del	XM_005245122.1:c.121+74624_121+74627del	XM_005245122.1:c.121+74626_121+74627del	XM_005245122.1:c.121+74627del	XM_005245122.1:c.121+74627dup
BRINP3 transcript variant X7	XM_005245123.1:c.236+74627=	XM_005245123.1:c.236+74621_236+74627del	XM_005245123.1:c.236+74623_236+74627del	XM_005245123.1:c.236+74624_236+74627del	XM_005245123.1:c.236+74626_236+74627del	XM_005245123.1:c.236+74627del	XM_005245123.1:c.236+74627dup
BRINP3 transcript variant X5	XM_011509472.3:c.146+59159=	XM_011509472.3:c.146+59153_146+59159del	XM_011509472.3:c.146+59155_146+59159del	XM_011509472.3:c.146+59156_146+59159del	XM_011509472.3:c.146+59158_146+59159del	XM_011509472.3:c.146+59159del	XM_011509472.3:c.146+59159dup
BRINP3 transcript variant X8	XM_011509475.3:c.107+59159=	XM_011509475.3:c.107+59153_107+59159del	XM_011509475.3:c.107+59155_107+59159del	XM_011509475.3:c.107+59156_107+59159del	XM_011509475.3:c.107+59158_107+59159del	XM_011509475.3:c.107+59159del	XM_011509475.3:c.107+59159dup
BRINP3 transcript variant X9	XM_011509476.3:c.121+74627=	XM_011509476.3:c.121+74621_121+74627del	XM_011509476.3:c.121+74623_121+74627del	XM_011509476.3:c.121+74624_121+74627del	XM_011509476.3:c.121+74626_121+74627del	XM_011509476.3:c.121+74627del	XM_011509476.3:c.121+74627dup
BRINP3 transcript variant X4	XM_017001125.2:c.236+74627=	XM_017001125.2:c.236+74621_236+74627del	XM_017001125.2:c.236+74623_236+74627del	XM_017001125.2:c.236+74624_236+74627del	XM_017001125.2:c.236+74626_236+74627del	XM_017001125.2:c.236+74627del	XM_017001125.2:c.236+74627dup
BRINP3 transcript variant X2	XM_017001126.2:c.236+74627=	XM_017001126.2:c.236+74621_236+74627del	XM_017001126.2:c.236+74623_236+74627del	XM_017001126.2:c.236+74624_236+74627del	XM_017001126.2:c.236+74626_236+74627del	XM_017001126.2:c.236+74627del	XM_017001126.2:c.236+74627dup
BRINP3 transcript variant X6	XM_017001127.2:c.146+59159=	XM_017001127.2:c.146+59153_146+59159del	XM_017001127.2:c.146+59155_146+59159del	XM_017001127.2:c.146+59156_146+59159del	XM_017001127.2:c.146+59158_146+59159del	XM_017001127.2:c.146+59159del	XM_017001127.2:c.146+59159dup
BRINP3 transcript variant X7	XM_017001128.2:c.146+59159=	XM_017001128.2:c.146+59153_146+59159del	XM_017001128.2:c.146+59155_146+59159del	XM_017001128.2:c.146+59156_146+59159del	XM_017001128.2:c.146+59158_146+59159del	XM_017001128.2:c.146+59159del	XM_017001128.2:c.146+59159dup
BRINP3 transcript variant X10	XM_017001129.2:c.121+74627=	XM_017001129.2:c.121+74621_121+74627del	XM_017001129.2:c.121+74623_121+74627del	XM_017001129.2:c.121+74624_121+74627del	XM_017001129.2:c.121+74626_121+74627del	XM_017001129.2:c.121+74627del	XM_017001129.2:c.121+74627dup
BRINP3 transcript variant X11	XM_017001132.2:c.236+74627=	XM_017001132.2:c.236+74621_236+74627del	XM_017001132.2:c.236+74623_236+74627del	XM_017001132.2:c.236+74624_236+74627del	XM_017001132.2:c.236+74626_236+74627del	XM_017001132.2:c.236+74627del	XM_017001132.2:c.236+74627dup
BRINP3 transcript variant X12	XM_017001133.2:c.236+74627=	XM_017001133.2:c.236+74621_236+74627del	XM_017001133.2:c.236+74623_236+74627del	XM_017001133.2:c.236+74624_236+74627del	XM_017001133.2:c.236+74626_236+74627del	XM_017001133.2:c.236+74627del	XM_017001133.2:c.236+74627dup
BRINP3 transcript variant X1	XM_047419245.1:c.236+74627=	XM_047419245.1:c.236+74621_236+74627del	XM_047419245.1:c.236+74623_236+74627del	XM_047419245.1:c.236+74624_236+74627del	XM_047419245.1:c.236+74626_236+74627del	XM_047419245.1:c.236+74627del	XM_047419245.1:c.236+74627dup
BRINP3 transcript variant X3	XM_047419250.1:c.236+74627=	XM_047419250.1:c.236+74621_236+74627del	XM_047419250.1:c.236+74623_236+74627del	XM_047419250.1:c.236+74624_236+74627del	XM_047419250.1:c.236+74626_236+74627del	XM_047419250.1:c.236+74627del	XM_047419250.1:c.236+74627dup

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#.

39 SubSNP, 13 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HUMANGENOME_JCVI	ss98579764	Feb 13, 2009 (137)
2	BUSHMAN	ss193141910	Jul 04, 2010 (132)
3	GMI	ss288069942	May 04, 2012 (137)
4	PJP	ss294616698	May 09, 2011 (134)
5	SSMP	ss663142297	Apr 01, 2015 (144)
6	EVA_UK10K_ALSPAC	ss1701558361	Apr 01, 2015 (144)
7	EVA_UK10K_TWINSUK	ss1701558642	Apr 01, 2015 (144)
8	HAMMER_LAB	ss1795463600	Sep 08, 2015 (146)
9	JJLAB	ss2030364608	Sep 14, 2016 (149)
10	SWEGEN	ss2988151233	Nov 08, 2017 (151)
11	MCHAISSO	ss3065341092	Nov 08, 2017 (151)
12	BIOINF_KMB_FNS_UNIBA	ss3645087072	Oct 11, 2018 (152)
13	URBANLAB	ss3646846282	Oct 11, 2018 (152)
14	EVA_DECODE	ss3688265686	Jul 12, 2019 (153)
15	EVA_DECODE	ss3688265687	Jul 12, 2019 (153)
16	EVA_DECODE	ss3688265688	Jul 12, 2019 (153)
17	ACPOP	ss3727700559	Jul 12, 2019 (153)
18	PACBIO	ss3783637206	Jul 12, 2019 (153)
19	PACBIO	ss3789257234	Jul 12, 2019 (153)
20	PACBIO	ss3794129387	Jul 12, 2019 (153)
21	EVA	ss3826552613	Apr 25, 2020 (154)
22	EVA	ss3836673595	Apr 25, 2020 (154)
23	EVA	ss3842084246	Apr 25, 2020 (154)
24	KOGIC	ss3946133661	Apr 25, 2020 (154)
25	GNOMAD	ss4008036129	Apr 25, 2021 (155)
26	GNOMAD	ss4008036130	Apr 25, 2021 (155)
27	GNOMAD	ss4008036131	Apr 25, 2021 (155)
28	GNOMAD	ss4008036132	Apr 25, 2021 (155)
29	GNOMAD	ss4008036133	Apr 25, 2021 (155)
30	TOPMED	ss4477084493	Apr 25, 2021 (155)
31	TOMMO_GENOMICS	ss5147599643	Apr 25, 2021 (155)
32	1000G_HIGH_COVERAGE	ss5245156843	Oct 12, 2022 (156)
33	HUGCELL_USP	ss5445655664	Oct 12, 2022 (156)
34	TOMMO_GENOMICS	ss5675119197	Oct 12, 2022 (156)
35	YY_MCH	ss5801476670	Oct 12, 2022 (156)
36	EVA	ss5833005538	Oct 12, 2022 (156)
37	EVA	ss5849208216	Oct 12, 2022 (156)
38	EVA	ss5911239590	Oct 12, 2022 (156)
39	EVA	ss5938904456	Oct 12, 2022 (156)
40	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 190349158	Oct 11, 2018 (152)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 34232812 (NC_000001.11:190380027::A 17/128258) Row 34232813 (NC_000001.11:190380027:A: 51968/127984) Row 34232814 (NC_000001.11:190380027:AA: 20/128272)...	-	Apr 25, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 34232812 (NC_000001.11:190380027::A 17/128258) Row 34232813 (NC_000001.11:190380027:A: 51968/127984) Row 34232814 (NC_000001.11:190380027:AA: 20/128272)...	-	Apr 25, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 34232812 (NC_000001.11:190380027::A 17/128258) Row 34232813 (NC_000001.11:190380027:A: 51968/127984) Row 34232814 (NC_000001.11:190380027:AA: 20/128272)...	-	Apr 25, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 34232812 (NC_000001.11:190380027::A 17/128258) Row 34232813 (NC_000001.11:190380027:A: 51968/127984) Row 34232814 (NC_000001.11:190380027:AA: 20/128272)...	-	Apr 25, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 34232812 (NC_000001.11:190380027::A 17/128258) Row 34232813 (NC_000001.11:190380027:A: 51968/127984) Row 34232814 (NC_000001.11:190380027:AA: 20/128272)...	-	Apr 25, 2021 (155)
46	Korean Genome Project	NC_000001.11 - 190380028	Apr 25, 2020 (154)
47	Northern Sweden	NC_000001.10 - 190349158	Jul 12, 2019 (153)
48	8.3KJPN	NC_000001.10 - 190349158	Apr 25, 2021 (155)
49	14KJPN	NC_000001.11 - 190380028	Oct 12, 2022 (156)
50	TopMed	NC_000001.11 - 190380028	Apr 25, 2021 (155)
51	UK 10K study - Twins	NC_000001.10 - 190349158	Oct 11, 2018 (152)
52	ALFA	NC_000001.11 - 190380028	Apr 25, 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)
rs71561663	May 11, 2012 (137)
rs71721209	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
40690828, ss4477084493	NC_000001.11:190380027:AAAAAAA:	NC_000001.11:190380027:AAAAAAAAAAA… NC_000001.11:190380027:AAAAAAAAAAA:AAAA	(self)
704022031	NC_000001.11:190380027:AAAAAAAAAAA… NC_000001.11:190380027:AAAAAAAAAAA:AAAA	NC_000001.11:190380027:AAAAAAAAAAA… NC_000001.11:190380027:AAAAAAAAAAA:AAAA	(self)
ss4008036133	NC_000001.11:190380027:AAAAA:	NC_000001.11:190380027:AAAAAAAAAAA… NC_000001.11:190380027:AAAAAAAAAAA:AAAAAA	(self)
704022031	NC_000001.11:190380027:AAAAAAAAAAA… NC_000001.11:190380027:AAAAAAAAAAA:AAAAAA	NC_000001.11:190380027:AAAAAAAAAAA… NC_000001.11:190380027:AAAAAAAAAAA:AAAAAA	(self)
ss4008036132	NC_000001.11:190380027:AAAA:	NC_000001.11:190380027:AAAAAAAAAAA… NC_000001.11:190380027:AAAAAAAAAAA:AAAAAAA	(self)
704022031	NC_000001.11:190380027:AAAAAAAAAAA… NC_000001.11:190380027:AAAAAAAAAAA:AAAAAAA	NC_000001.11:190380027:AAAAAAAAAAA… NC_000001.11:190380027:AAAAAAAAAAA:AAAAAAA	(self)
ss3688265688, ss4008036131	NC_000001.11:190380027:AA:	NC_000001.11:190380027:AAAAAAAAAAA… NC_000001.11:190380027:AAAAAAAAAAA:AAAAAAAAA	(self)
704022031	NC_000001.11:190380027:AAAAAAAAAAA… NC_000001.11:190380027:AAAAAAAAAAA:AAAAAAAAA	NC_000001.11:190380027:AAAAAAAAAAA… NC_000001.11:190380027:AAAAAAAAAAA:AAAAAAAAA	(self)
ss288069942, ss294616698	NC_000001.9:188615780:A:	NC_000001.11:190380027:AAAAAAAAAAA… NC_000001.11:190380027:AAAAAAAAAAA:AAAAAAAAAA	(self)
2604320, 985424, 5568950, 2604320, ss663142297, ss1701558361, ss1701558642, ss1795463600, ss2030364608, ss2988151233, ss3727700559, ss3783637206, ss3789257234, ss3794129387, ss3826552613, ss3836673595, ss5147599643, ss5833005538, ss5938904456	NC_000001.10:190349157:A:	NC_000001.11:190380027:AAAAAAAAAAA… NC_000001.11:190380027:AAAAAAAAAAA:AAAAAAAAAA	(self)
2511662, 8956301, ss3065341092, ss3645087072, ss3646846282, ss3842084246, ss3946133661, ss4008036130, ss5245156843, ss5445655664, ss5675119197, ss5801476670, ss5849208216, ss5911239590	NC_000001.11:190380027:A:	NC_000001.11:190380027:AAAAAAAAAAA… NC_000001.11:190380027:AAAAAAAAAAA:AAAAAAAAAA	(self)
704022031	NC_000001.11:190380027:AAAAAAAAAAA… NC_000001.11:190380027:AAAAAAAAAAA:AAAAAAAAAA	NC_000001.11:190380027:AAAAAAAAAAA… NC_000001.11:190380027:AAAAAAAAAAA:AAAAAAAAAA	(self)
ss3688265687	NC_000001.11:190380028:A:	NC_000001.11:190380027:AAAAAAAAAAA… NC_000001.11:190380027:AAAAAAAAAAA:AAAAAAAAAA	(self)
ss98579764	NT_004487.19:41837809:A:	NC_000001.11:190380027:AAAAAAAAAAA… NC_000001.11:190380027:AAAAAAAAAAA:AAAAAAAAAA	(self)
ss193141910	NT_004487.20:47195440:A:	NC_000001.11:190380027:AAAAAAAAAAA… NC_000001.11:190380027:AAAAAAAAAAA:AAAAAAAAAA	(self)
ss4008036129	NC_000001.11:190380027::A	NC_000001.11:190380027:AAAAAAAAAAA… NC_000001.11:190380027:AAAAAAAAAAA:AAAAAAAAAAAA	(self)
704022031	NC_000001.11:190380027:AAAAAAAAAAA… NC_000001.11:190380027:AAAAAAAAAAA:AAAAAAAAAAAA	NC_000001.11:190380027:AAAAAAAAAAA… NC_000001.11:190380027:AAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss3688265686	NC_000001.11:190380029::A	NC_000001.11:190380027:AAAAAAAAAAA… NC_000001.11:190380027:AAAAAAAAAAA:AAAAAAAAAAAA	(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 rs66528376

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

rs66528376