Name: rs141750225
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.

rs141750225

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr5:36957984-36958001 (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)₆ / del(A)₅ / del(…
del(A)₇ / del(A)₆ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAAA / dup(A)₈
Variation Type: Indel Insertion and Deletion
Frequency: delAA=0.2507 (1705/6801, ALFA)
(A)₁₈=0.3554 (1780/5008, 1000G)

Clinical Significance: Reported in ClinVar
Gene : Consequence: NIPBL : 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	6801	AAAAAAAAAAAAAAAAAA=0.7199	AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.2507, AAAAAAAAAAAAAAAAA=0.0284, AAAAAAAAAAAAAAAAAAA=0.0010	0.577924	0.08937	0.332706	27
European	Sub	6509	AAAAAAAAAAAAAAAAAA=0.7073	AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.2619, AAAAAAAAAAAAAAAAA=0.0297, AAAAAAAAAAAAAAAAAAA=0.0011	0.557673	0.093658	0.348669	20
African	Sub	54	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African Others	Sub	0	AAAAAAAAAAAAAAAAAA=0	AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
African American	Sub	54	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Asian	Sub	22	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	18	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	4	AAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	16	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	80	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	30	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	90	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	6801	(A)₁₈=0.7199	del(A)₄=0.0000, delAAA=0.0000, delAA=0.2507, delA=0.0284, dupA=0.0010
Allele Frequency Aggregator	European	Sub	6509	(A)₁₈=0.7073	del(A)₄=0.0000, delAAA=0.0000, delAA=0.2619, delA=0.0297, dupA=0.0011
Allele Frequency Aggregator	Other	Sub	90	(A)₁₈=1.00	del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00
Allele Frequency Aggregator	Latin American 2	Sub	80	(A)₁₈=1.00	del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00
Allele Frequency Aggregator	African	Sub	54	(A)₁₈=1.00	del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00
Allele Frequency Aggregator	South Asian	Sub	30	(A)₁₈=1.00	del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00
Allele Frequency Aggregator	Asian	Sub	22	(A)₁₈=1.00	del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00
Allele Frequency Aggregator	Latin American 1	Sub	16	(A)₁₈=1.00	del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00
1000Genomes	Global	Study-wide	5008	(A)₁₈=0.3554	delAA=0.6446
1000Genomes	African	Sub	1322	(A)₁₈=0.0772	delAA=0.9228
1000Genomes	East Asian	Sub	1008	(A)₁₈=0.4712	delAA=0.5288
1000Genomes	Europe	Sub	1006	(A)₁₈=0.5338	delAA=0.4662
1000Genomes	South Asian	Sub	978	(A)₁₈=0.451	delAA=0.549
1000Genomes	American	Sub	694	(A)₁₈=0.324	delAA=0.676

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

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 5	NC_000005.10:g.36957995_36958001del
GRCh38.p14 chr 5	NC_000005.10:g.36957996_36958001del
GRCh38.p14 chr 5	NC_000005.10:g.36957997_36958001del
GRCh38.p14 chr 5	NC_000005.10:g.36957998_36958001del
GRCh38.p14 chr 5	NC_000005.10:g.36957999_36958001del
GRCh38.p14 chr 5	NC_000005.10:g.36958000_36958001del
GRCh38.p14 chr 5	NC_000005.10:g.36958001del
GRCh38.p14 chr 5	NC_000005.10:g.36958001dup
GRCh38.p14 chr 5	NC_000005.10:g.36957999_36958001dup
GRCh38.p14 chr 5	NC_000005.10:g.36957994_36958001dup
GRCh37.p13 chr 5	NC_000005.9:g.36958097_36958103del
GRCh37.p13 chr 5	NC_000005.9:g.36958098_36958103del
GRCh37.p13 chr 5	NC_000005.9:g.36958099_36958103del
GRCh37.p13 chr 5	NC_000005.9:g.36958100_36958103del
GRCh37.p13 chr 5	NC_000005.9:g.36958101_36958103del
GRCh37.p13 chr 5	NC_000005.9:g.36958102_36958103del
GRCh37.p13 chr 5	NC_000005.9:g.36958103del
GRCh37.p13 chr 5	NC_000005.9:g.36958103dup
GRCh37.p13 chr 5	NC_000005.9:g.36958101_36958103dup
GRCh37.p13 chr 5	NC_000005.9:g.36958096_36958103dup
NIPBL RefSeqGene	NG_006987.2:g.86113_86119del
NIPBL RefSeqGene	NG_006987.2:g.86114_86119del
NIPBL RefSeqGene	NG_006987.2:g.86115_86119del
NIPBL RefSeqGene	NG_006987.2:g.86116_86119del
NIPBL RefSeqGene	NG_006987.2:g.86117_86119del
NIPBL RefSeqGene	NG_006987.2:g.86118_86119del
NIPBL RefSeqGene	NG_006987.2:g.86119del
NIPBL RefSeqGene	NG_006987.2:g.86119dup
NIPBL RefSeqGene	NG_006987.2:g.86117_86119dup
NIPBL RefSeqGene	NG_006987.2:g.86112_86119dup

Gene: NIPBL, NIPBL cohesin loading factor (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
NIPBL transcript variant B	NM_015384.5:c.231-109_231… NM_015384.5:c.231-109_231-103del	N/A	Intron Variant
NIPBL transcript variant A	NM_133433.4:c.231-109_231… NM_133433.4:c.231-109_231-103del	N/A	Intron Variant
NIPBL transcript variant X3	XM_005248280.4:c.231-109_… XM_005248280.4:c.231-109_231-103del	N/A	Intron Variant
NIPBL transcript variant X1	XM_006714467.3:c.231-109_… XM_006714467.3:c.231-109_231-103del	N/A	Intron Variant
NIPBL transcript variant X2	XM_006714468.3:c.231-109_… XM_006714468.3:c.231-109_231-103del	N/A	Intron Variant
NIPBL transcript variant X6	XM_011514015.2:c.231-109_… XM_011514015.2:c.231-109_231-103del	N/A	Intron Variant
NIPBL transcript variant X4	XM_017009329.2:c.231-109_… XM_017009329.2:c.231-109_231-103del	N/A	Intron Variant
NIPBL transcript variant X5	XM_005248282.6:c.	N/A	Genic Upstream Transcript 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.

Allele: delAAA (allele ID: 1183647 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001557997.2	not provided	Likely-Benign

Allele: delAA (allele ID: 1285138 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001722008.1	not provided	Benign

Allele: delA (allele ID: 1234432 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001651752.2	not provided	Benign

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)₁₈=	del(A)₇	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAAA	dup(A)₈
GRCh38.p14 chr 5	NC_000005.10:g.36957984_36958001=	NC_000005.10:g.36957995_36958001del	NC_000005.10:g.36957996_36958001del	NC_000005.10:g.36957997_36958001del	NC_000005.10:g.36957998_36958001del	NC_000005.10:g.36957999_36958001del	NC_000005.10:g.36958000_36958001del	NC_000005.10:g.36958001del	NC_000005.10:g.36958001dup	NC_000005.10:g.36957999_36958001dup	NC_000005.10:g.36957994_36958001dup
GRCh37.p13 chr 5	NC_000005.9:g.36958086_36958103=	NC_000005.9:g.36958097_36958103del	NC_000005.9:g.36958098_36958103del	NC_000005.9:g.36958099_36958103del	NC_000005.9:g.36958100_36958103del	NC_000005.9:g.36958101_36958103del	NC_000005.9:g.36958102_36958103del	NC_000005.9:g.36958103del	NC_000005.9:g.36958103dup	NC_000005.9:g.36958101_36958103dup	NC_000005.9:g.36958096_36958103dup
NIPBL RefSeqGene	NG_006987.2:g.86102_86119=	NG_006987.2:g.86113_86119del	NG_006987.2:g.86114_86119del	NG_006987.2:g.86115_86119del	NG_006987.2:g.86116_86119del	NG_006987.2:g.86117_86119del	NG_006987.2:g.86118_86119del	NG_006987.2:g.86119del	NG_006987.2:g.86119dup	NG_006987.2:g.86117_86119dup	NG_006987.2:g.86112_86119dup
NIPBL transcript variant B	NM_015384.4:c.231-120=	NM_015384.4:c.231-109_231-103del	NM_015384.4:c.231-108_231-103del	NM_015384.4:c.231-107_231-103del	NM_015384.4:c.231-106_231-103del	NM_015384.4:c.231-105_231-103del	NM_015384.4:c.231-104_231-103del	NM_015384.4:c.231-103del	NM_015384.4:c.231-103dup	NM_015384.4:c.231-105_231-103dup	NM_015384.4:c.231-110_231-103dup
NIPBL transcript variant B	NM_015384.5:c.231-120=	NM_015384.5:c.231-109_231-103del	NM_015384.5:c.231-108_231-103del	NM_015384.5:c.231-107_231-103del	NM_015384.5:c.231-106_231-103del	NM_015384.5:c.231-105_231-103del	NM_015384.5:c.231-104_231-103del	NM_015384.5:c.231-103del	NM_015384.5:c.231-103dup	NM_015384.5:c.231-105_231-103dup	NM_015384.5:c.231-110_231-103dup
NIPBL transcript variant A	NM_133433.3:c.231-120=	NM_133433.3:c.231-109_231-103del	NM_133433.3:c.231-108_231-103del	NM_133433.3:c.231-107_231-103del	NM_133433.3:c.231-106_231-103del	NM_133433.3:c.231-105_231-103del	NM_133433.3:c.231-104_231-103del	NM_133433.3:c.231-103del	NM_133433.3:c.231-103dup	NM_133433.3:c.231-105_231-103dup	NM_133433.3:c.231-110_231-103dup
NIPBL transcript variant A	NM_133433.4:c.231-120=	NM_133433.4:c.231-109_231-103del	NM_133433.4:c.231-108_231-103del	NM_133433.4:c.231-107_231-103del	NM_133433.4:c.231-106_231-103del	NM_133433.4:c.231-105_231-103del	NM_133433.4:c.231-104_231-103del	NM_133433.4:c.231-103del	NM_133433.4:c.231-103dup	NM_133433.4:c.231-105_231-103dup	NM_133433.4:c.231-110_231-103dup
NIPBL transcript variant X1	XM_005248280.1:c.231-120=	XM_005248280.1:c.231-109_231-103del	XM_005248280.1:c.231-108_231-103del	XM_005248280.1:c.231-107_231-103del	XM_005248280.1:c.231-106_231-103del	XM_005248280.1:c.231-105_231-103del	XM_005248280.1:c.231-104_231-103del	XM_005248280.1:c.231-103del	XM_005248280.1:c.231-103dup	XM_005248280.1:c.231-105_231-103dup	XM_005248280.1:c.231-110_231-103dup
NIPBL transcript variant X3	XM_005248280.4:c.231-120=	XM_005248280.4:c.231-109_231-103del	XM_005248280.4:c.231-108_231-103del	XM_005248280.4:c.231-107_231-103del	XM_005248280.4:c.231-106_231-103del	XM_005248280.4:c.231-105_231-103del	XM_005248280.4:c.231-104_231-103del	XM_005248280.4:c.231-103del	XM_005248280.4:c.231-103dup	XM_005248280.4:c.231-105_231-103dup	XM_005248280.4:c.231-110_231-103dup
NIPBL transcript variant X1	XM_006714467.3:c.231-120=	XM_006714467.3:c.231-109_231-103del	XM_006714467.3:c.231-108_231-103del	XM_006714467.3:c.231-107_231-103del	XM_006714467.3:c.231-106_231-103del	XM_006714467.3:c.231-105_231-103del	XM_006714467.3:c.231-104_231-103del	XM_006714467.3:c.231-103del	XM_006714467.3:c.231-103dup	XM_006714467.3:c.231-105_231-103dup	XM_006714467.3:c.231-110_231-103dup
NIPBL transcript variant X2	XM_006714468.3:c.231-120=	XM_006714468.3:c.231-109_231-103del	XM_006714468.3:c.231-108_231-103del	XM_006714468.3:c.231-107_231-103del	XM_006714468.3:c.231-106_231-103del	XM_006714468.3:c.231-105_231-103del	XM_006714468.3:c.231-104_231-103del	XM_006714468.3:c.231-103del	XM_006714468.3:c.231-103dup	XM_006714468.3:c.231-105_231-103dup	XM_006714468.3:c.231-110_231-103dup
NIPBL transcript variant X6	XM_011514015.2:c.231-120=	XM_011514015.2:c.231-109_231-103del	XM_011514015.2:c.231-108_231-103del	XM_011514015.2:c.231-107_231-103del	XM_011514015.2:c.231-106_231-103del	XM_011514015.2:c.231-105_231-103del	XM_011514015.2:c.231-104_231-103del	XM_011514015.2:c.231-103del	XM_011514015.2:c.231-103dup	XM_011514015.2:c.231-105_231-103dup	XM_011514015.2:c.231-110_231-103dup
NIPBL transcript variant X4	XM_017009329.2:c.231-120=	XM_017009329.2:c.231-109_231-103del	XM_017009329.2:c.231-108_231-103del	XM_017009329.2:c.231-107_231-103del	XM_017009329.2:c.231-106_231-103del	XM_017009329.2:c.231-105_231-103del	XM_017009329.2:c.231-104_231-103del	XM_017009329.2:c.231-103del	XM_017009329.2:c.231-103dup	XM_017009329.2:c.231-105_231-103dup	XM_017009329.2:c.231-110_231-103dup

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#.

62 SubSNP, 28 Frequency, 3 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss80852945	Aug 21, 2014 (142)
2	HGSV	ss81564116	Aug 21, 2014 (142)
3	HUMANGENOME_JCVI	ss95391922	Mar 15, 2016 (147)
4	GMI	ss288625126	May 04, 2012 (137)
5	PJP	ss295221232	May 09, 2011 (134)
6	SSMP	ss663601189	Apr 01, 2015 (144)
7	1000GENOMES	ss1373673895	Aug 21, 2014 (142)
8	EVA_UK10K_TWINSUK	ss1704634566	Apr 01, 2015 (144)
9	EVA_UK10K_ALSPAC	ss1704637747	Apr 01, 2015 (144)
10	EVA_UK10K_TWINSUK	ss1710204357	Apr 01, 2015 (144)
11	EVA_UK10K_ALSPAC	ss1710204366	Apr 01, 2015 (144)
12	MCHAISSO	ss3064153584	Nov 08, 2017 (151)
13	MCHAISSO	ss3065025294	Nov 08, 2017 (151)
14	MCHAISSO	ss3066012944	Nov 08, 2017 (151)
15	URBANLAB	ss3648034204	Oct 12, 2018 (152)
16	EVA_DECODE	ss3714480416	Jul 13, 2019 (153)
17	EVA_DECODE	ss3714480417	Jul 13, 2019 (153)
18	EVA_DECODE	ss3714480418	Jul 13, 2019 (153)
19	EVA_DECODE	ss3714480419	Jul 13, 2019 (153)
20	ACPOP	ss3732263006	Jul 13, 2019 (153)
21	ACPOP	ss3732263007	Jul 13, 2019 (153)
22	PACBIO	ss3785083924	Jul 13, 2019 (153)
23	KHV_HUMAN_GENOMES	ss3806477608	Jul 13, 2019 (153)
24	EVA	ss3838067556	Apr 26, 2020 (154)
25	EVA	ss3843506842	Apr 26, 2020 (154)
26	KOGIC	ss3956441515	Apr 26, 2020 (154)
27	KOGIC	ss3956441516	Apr 26, 2020 (154)
28	KOGIC	ss3956441517	Apr 26, 2020 (154)
29	KOGIC	ss3956441518	Apr 26, 2020 (154)
30	FSA-LAB	ss3984304368	Apr 26, 2021 (155)
31	GNOMAD	ss4102577192	Apr 26, 2021 (155)
32	GNOMAD	ss4102577193	Apr 26, 2021 (155)
33	GNOMAD	ss4102577194	Apr 26, 2021 (155)
34	GNOMAD	ss4102577195	Apr 26, 2021 (155)
35	GNOMAD	ss4102577196	Apr 26, 2021 (155)
36	GNOMAD	ss4102577197	Apr 26, 2021 (155)
37	GNOMAD	ss4102577198	Apr 26, 2021 (155)
38	GNOMAD	ss4102577199	Apr 26, 2021 (155)
39	TOMMO_GENOMICS	ss5171243649	Apr 26, 2021 (155)
40	TOMMO_GENOMICS	ss5171243650	Apr 26, 2021 (155)
41	TOMMO_GENOMICS	ss5171243651	Apr 26, 2021 (155)
42	TOMMO_GENOMICS	ss5171243652	Apr 26, 2021 (155)
43	EVA	ss5237185332	Apr 26, 2021 (155)
44	1000G_HIGH_COVERAGE	ss5263558849	Oct 17, 2022 (156)
45	1000G_HIGH_COVERAGE	ss5263558850	Oct 17, 2022 (156)
46	1000G_HIGH_COVERAGE	ss5263558851	Oct 17, 2022 (156)
47	1000G_HIGH_COVERAGE	ss5263558852	Oct 17, 2022 (156)
48	HUGCELL_USP	ss5461826414	Oct 17, 2022 (156)
49	HUGCELL_USP	ss5461826415	Oct 17, 2022 (156)
50	HUGCELL_USP	ss5461826417	Oct 17, 2022 (156)
51	HUGCELL_USP	ss5461826418	Oct 17, 2022 (156)
52	EVA	ss5624146372	Oct 17, 2022 (156)
53	TOMMO_GENOMICS	ss5707152279	Oct 17, 2022 (156)
54	TOMMO_GENOMICS	ss5707152280	Oct 17, 2022 (156)
55	TOMMO_GENOMICS	ss5707152281	Oct 17, 2022 (156)
56	TOMMO_GENOMICS	ss5707152282	Oct 17, 2022 (156)
57	EVA	ss5834785786	Oct 17, 2022 (156)
58	EVA	ss5834785787	Oct 17, 2022 (156)
59	TMC_SNPDB2	ss5846942581	Oct 17, 2022 (156)
60	EVA	ss5893754446	Oct 17, 2022 (156)
61	EVA	ss5980289449	Oct 17, 2022 (156)
62	EVA	ss5981227504	Oct 17, 2022 (156)
63	1000Genomes	NC_000005.9 - 36958086	Oct 12, 2018 (152)
64	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 14599094 (NC_000005.9:36958086:A: 1836/3854) Row 14599095 (NC_000005.9:36958085:AAA: 200/3854)	-	Oct 12, 2018 (152)
65	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 14599094 (NC_000005.9:36958086:A: 1836/3854) Row 14599095 (NC_000005.9:36958085:AAA: 200/3854)	-	Oct 12, 2018 (152)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185446029 (NC_000005.10:36957983::A 213/117646) Row 185446030 (NC_000005.10:36957983::AAA 1/117686) Row 185446031 (NC_000005.10:36957983::AAAAAAAA 1/117686)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185446029 (NC_000005.10:36957983::A 213/117646) Row 185446030 (NC_000005.10:36957983::AAA 1/117686) Row 185446031 (NC_000005.10:36957983::AAAAAAAA 1/117686)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185446029 (NC_000005.10:36957983::A 213/117646) Row 185446030 (NC_000005.10:36957983::AAA 1/117686) Row 185446031 (NC_000005.10:36957983::AAAAAAAA 1/117686)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185446029 (NC_000005.10:36957983::A 213/117646) Row 185446030 (NC_000005.10:36957983::AAA 1/117686) Row 185446031 (NC_000005.10:36957983::AAAAAAAA 1/117686)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185446029 (NC_000005.10:36957983::A 213/117646) Row 185446030 (NC_000005.10:36957983::AAA 1/117686) Row 185446031 (NC_000005.10:36957983::AAAAAAAA 1/117686)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185446029 (NC_000005.10:36957983::A 213/117646) Row 185446030 (NC_000005.10:36957983::AAA 1/117686) Row 185446031 (NC_000005.10:36957983::AAAAAAAA 1/117686)...	-	Apr 26, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185446029 (NC_000005.10:36957983::A 213/117646) Row 185446030 (NC_000005.10:36957983::AAA 1/117686) Row 185446031 (NC_000005.10:36957983::AAAAAAAA 1/117686)...	-	Apr 26, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 185446029 (NC_000005.10:36957983::A 213/117646) Row 185446030 (NC_000005.10:36957983::AAA 1/117686) Row 185446031 (NC_000005.10:36957983::AAAAAAAA 1/117686)...	-	Apr 26, 2021 (155)
74	Korean Genome Project Submission ignored due to conflicting rows: Row 12819516 (NC_000005.10:36957983:AAA: 39/1832) Row 12819517 (NC_000005.10:36957984:AA: 784/1832) Row 12819518 (NC_000005.10:36957985:A: 121/1832)...	-	Apr 26, 2020 (154)
75	Korean Genome Project Submission ignored due to conflicting rows: Row 12819516 (NC_000005.10:36957983:AAA: 39/1832) Row 12819517 (NC_000005.10:36957984:AA: 784/1832) Row 12819518 (NC_000005.10:36957985:A: 121/1832)...	-	Apr 26, 2020 (154)
76	Korean Genome Project Submission ignored due to conflicting rows: Row 12819516 (NC_000005.10:36957983:AAA: 39/1832) Row 12819517 (NC_000005.10:36957984:AA: 784/1832) Row 12819518 (NC_000005.10:36957985:A: 121/1832)...	-	Apr 26, 2020 (154)
77	Korean Genome Project Submission ignored due to conflicting rows: Row 12819516 (NC_000005.10:36957983:AAA: 39/1832) Row 12819517 (NC_000005.10:36957984:AA: 784/1832) Row 12819518 (NC_000005.10:36957985:A: 121/1832)...	-	Apr 26, 2020 (154)
78	Northern Sweden Submission ignored due to conflicting rows: Row 5547871 (NC_000005.9:36958085:AA: 186/578) Row 5547872 (NC_000005.9:36958085:A: 27/578)	-	Jul 13, 2019 (153)
79	Northern Sweden Submission ignored due to conflicting rows: Row 5547871 (NC_000005.9:36958085:AA: 186/578) Row 5547872 (NC_000005.9:36958085:A: 27/578)	-	Jul 13, 2019 (153)
80	8.3KJPN Submission ignored due to conflicting rows: Row 29212956 (NC_000005.9:36958085:AA: 7880/16760) Row 29212957 (NC_000005.9:36958085:AAA: 33/16760) Row 29212958 (NC_000005.9:36958085:A: 77/16760)...	-	Apr 26, 2021 (155)
81	8.3KJPN Submission ignored due to conflicting rows: Row 29212956 (NC_000005.9:36958085:AA: 7880/16760) Row 29212957 (NC_000005.9:36958085:AAA: 33/16760) Row 29212958 (NC_000005.9:36958085:A: 77/16760)...	-	Apr 26, 2021 (155)
82	8.3KJPN Submission ignored due to conflicting rows: Row 29212956 (NC_000005.9:36958085:AA: 7880/16760) Row 29212957 (NC_000005.9:36958085:AAA: 33/16760) Row 29212958 (NC_000005.9:36958085:A: 77/16760)...	-	Apr 26, 2021 (155)
83	8.3KJPN Submission ignored due to conflicting rows: Row 29212956 (NC_000005.9:36958085:AA: 7880/16760) Row 29212957 (NC_000005.9:36958085:AAA: 33/16760) Row 29212958 (NC_000005.9:36958085:A: 77/16760)...	-	Apr 26, 2021 (155)
84	14KJPN Submission ignored due to conflicting rows: Row 40989383 (NC_000005.10:36957983:AA: 13178/28258) Row 40989384 (NC_000005.10:36957983:A: 149/28258) Row 40989385 (NC_000005.10:36957983:AAA: 46/28258)...	-	Oct 17, 2022 (156)
85	14KJPN Submission ignored due to conflicting rows: Row 40989383 (NC_000005.10:36957983:AA: 13178/28258) Row 40989384 (NC_000005.10:36957983:A: 149/28258) Row 40989385 (NC_000005.10:36957983:AAA: 46/28258)...	-	Oct 17, 2022 (156)
86	14KJPN Submission ignored due to conflicting rows: Row 40989383 (NC_000005.10:36957983:AA: 13178/28258) Row 40989384 (NC_000005.10:36957983:A: 149/28258) Row 40989385 (NC_000005.10:36957983:AAA: 46/28258)...	-	Oct 17, 2022 (156)
87	14KJPN Submission ignored due to conflicting rows: Row 40989383 (NC_000005.10:36957983:AA: 13178/28258) Row 40989384 (NC_000005.10:36957983:A: 149/28258) Row 40989385 (NC_000005.10:36957983:AAA: 46/28258)...	-	Oct 17, 2022 (156)
88	UK 10K study - Twins Submission ignored due to conflicting rows: Row 14599094 (NC_000005.9:36958086:A: 1787/3708) Row 14599095 (NC_000005.9:36958085:AAA: 219/3708)	-	Oct 12, 2018 (152)
89	UK 10K study - Twins Submission ignored due to conflicting rows: Row 14599094 (NC_000005.9:36958086:A: 1787/3708) Row 14599095 (NC_000005.9:36958085:AAA: 219/3708)	-	Oct 12, 2018 (152)
90	ALFA	NC_000005.10 - 36957984	Apr 26, 2021 (155)
91	ClinVar	RCV001557997.2	Oct 17, 2022 (156)
92	ClinVar	RCV001651752.2	Oct 17, 2022 (156)
93	ClinVar	RCV001722008.1	Oct 17, 2022 (156)

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)
rs57472986	May 11, 2012 (137)
rs200395196	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss5893754446	NC_000005.10:36957983:AAAAAAA:	NC_000005.10:36957983:AAAAAAAAAAAA… NC_000005.10:36957983:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA
ss5846942581	NC_000005.10:36957983:AAAAAA:	NC_000005.10:36957983:AAAAAAAAAAAA… NC_000005.10:36957983:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA
ss4102577199	NC_000005.10:36957983:AAAAA:	NC_000005.10:36957983:AAAAAAAAAAAA… NC_000005.10:36957983:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4102577198	NC_000005.10:36957983:AAAA:	NC_000005.10:36957983:AAAAAAAAAAAA… NC_000005.10:36957983:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
13551575625	NC_000005.10:36957983:AAAAAAAAAAAA… NC_000005.10:36957983:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000005.10:36957983:AAAAAAAAAAAA… NC_000005.10:36957983:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss1704634566, ss1704637747, ss3785083924, ss3984304368, ss5171243650, ss5834785787	NC_000005.9:36958085:AAA:	NC_000005.10:36957983:AAAAAAAAAAAA… NC_000005.10:36957983:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3714480419, ss3956441515, ss4102577197, ss5263558850, ss5461826418, ss5707152281	NC_000005.10:36957983:AAA:	NC_000005.10:36957983:AAAAAAAAAAAA… NC_000005.10:36957983:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
RCV001557997.2, 13551575625	NC_000005.10:36957983:AAAAAAAAAAAA… NC_000005.10:36957983:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000005.10:36957983:AAAAAAAAAAAA… NC_000005.10:36957983:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss288625126	NC_000005.8:36993842:AA:	NC_000005.10:36957983:AAAAAAAAAAAA… NC_000005.10:36957983:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss80852945, ss81564116, ss295221232	NC_000005.8:36993858:AA:	NC_000005.10:36957983:AAAAAAAAAAAA… NC_000005.10:36957983:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
26250827, ss663601189, ss1373673895, ss3732263006, ss3838067556, ss5171243649, ss5624146372, ss5834785786, ss5980289449, ss5981227504	NC_000005.9:36958085:AA:	NC_000005.10:36957983:AAAAAAAAAAAA… NC_000005.10:36957983:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss1710204357, ss1710204366	NC_000005.9:36958086:AA:	NC_000005.10:36957983:AAAAAAAAAAAA… NC_000005.10:36957983:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3064153584, ss3065025294, ss3066012944, ss3648034204, ss3806477608, ss3843506842, ss4102577196, ss5237185332, ss5263558849, ss5461826414, ss5707152279	NC_000005.10:36957983:AA:	NC_000005.10:36957983:AAAAAAAAAAAA… NC_000005.10:36957983:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
RCV001722008.1, 13551575625	NC_000005.10:36957983:AAAAAAAAAAAA… NC_000005.10:36957983:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000005.10:36957983:AAAAAAAAAAAA… NC_000005.10:36957983:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3714480418, ss3956441516	NC_000005.10:36957984:AA:	NC_000005.10:36957983:AAAAAAAAAAAA… NC_000005.10:36957983:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss95391922	NT_006576.16:36948101:AA:	NC_000005.10:36957983:AAAAAAAAAAAA… NC_000005.10:36957983:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3732263007, ss5171243651	NC_000005.9:36958085:A:	NC_000005.10:36957983:AAAAAAAAAAAA… NC_000005.10:36957983:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
	NC_000005.9:36958086:A:	NC_000005.10:36957983:AAAAAAAAAAAA… NC_000005.10:36957983:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4102577195, ss5263558852, ss5461826415, ss5707152280	NC_000005.10:36957983:A:	NC_000005.10:36957983:AAAAAAAAAAAA… NC_000005.10:36957983:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
RCV001651752.2, 13551575625	NC_000005.10:36957983:AAAAAAAAAAAA… NC_000005.10:36957983:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000005.10:36957983:AAAAAAAAAAAA… NC_000005.10:36957983:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3714480417, ss3956441517	NC_000005.10:36957985:A:	NC_000005.10:36957983:AAAAAAAAAAAA… NC_000005.10:36957983:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss5171243652	NC_000005.9:36958085::A	NC_000005.10:36957983:AAAAAAAAAAAA… NC_000005.10:36957983:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4102577192, ss5263558851, ss5461826417, ss5707152282	NC_000005.10:36957983::A	NC_000005.10:36957983:AAAAAAAAAAAA… NC_000005.10:36957983:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
13551575625	NC_000005.10:36957983:AAAAAAAAAAAA… NC_000005.10:36957983:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000005.10:36957983:AAAAAAAAAAAA… NC_000005.10:36957983:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3714480416, ss3956441518	NC_000005.10:36957986::A	NC_000005.10:36957983:AAAAAAAAAAAA… NC_000005.10:36957983:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4102577193	NC_000005.10:36957983::AAA	NC_000005.10:36957983:AAAAAAAAAAAA… NC_000005.10:36957983:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4102577194	NC_000005.10:36957983::AAAAAAAA	NC_000005.10:36957983:AAAAAAAAAAAA… NC_000005.10:36957983:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(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 rs141750225

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

rs141750225