Name: rs5814431
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.

rs5814431

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr15:90389955-90389972 (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 / dupAA / dupAAA
Variation Type: Indel Insertion and Deletion
Frequency: (A)₁₈=0.3387 (1696/5008, 1000G)
del(A)₇=0.0000 (0/2646, ALFA)
del(A)₆=0.0000 (0/2646, ALFA) (+ 6 more)
del(A)₄=0.0000 (0/2646, ALFA)
delAAA=0.0000 (0/2646, ALFA)
delAA=0.0000 (0/2646, ALFA)
delA=0.0000 (0/2646, ALFA)
dupA=0.0000 (0/2646, ALFA)
dupAA=0.0000 (0/2646, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: IQGAP1 : 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	2646	AAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
European	Sub	2308	AAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
African	Sub	136	AAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	4	AAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
African American	Sub	132	AAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	6	AAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
East Asian	Sub	6	AAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Other Asian	Sub	0	AAAAAAAAAAAAAAAAAA=0	AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 1	Sub	34	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	64	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	16	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	82	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=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
1000Genomes	Global	Study-wide	5008	(A)₁₈=0.3387	delAAA=0.6613
1000Genomes	African	Sub	1322	(A)₁₈=0.1687	delAAA=0.8313
1000Genomes	East Asian	Sub	1008	(A)₁₈=0.2817	delAAA=0.7183
1000Genomes	Europe	Sub	1006	(A)₁₈=0.5606	delAAA=0.4394
1000Genomes	South Asian	Sub	978	(A)₁₈=0.396	delAAA=0.604
1000Genomes	American	Sub	694	(A)₁₈=0.343	delAAA=0.657
Allele Frequency Aggregator	Total	Global	2646	(A)₁₈=1.0000	del(A)₇=0.0000, del(A)₆=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000
Allele Frequency Aggregator	European	Sub	2308	(A)₁₈=1.0000	del(A)₇=0.0000, del(A)₆=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000
Allele Frequency Aggregator	African	Sub	136	(A)₁₈=1.000	del(A)₇=0.000, del(A)₆=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator	Other	Sub	82	(A)₁₈=1.00	del(A)₇=0.00, del(A)₆=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator	Latin American 2	Sub	64	(A)₁₈=1.00	del(A)₇=0.00, del(A)₆=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator	Latin American 1	Sub	34	(A)₁₈=1.00	del(A)₇=0.00, del(A)₆=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator	South Asian	Sub	16	(A)₁₈=1.00	del(A)₇=0.00, del(A)₆=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator	Asian	Sub	6	(A)₁₈=1.0	del(A)₇=0.0, del(A)₆=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0

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

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 15	NC_000015.10:g.90389966_90389972del
GRCh38.p14 chr 15	NC_000015.10:g.90389967_90389972del
GRCh38.p14 chr 15	NC_000015.10:g.90389968_90389972del
GRCh38.p14 chr 15	NC_000015.10:g.90389969_90389972del
GRCh38.p14 chr 15	NC_000015.10:g.90389970_90389972del
GRCh38.p14 chr 15	NC_000015.10:g.90389971_90389972del
GRCh38.p14 chr 15	NC_000015.10:g.90389972del
GRCh38.p14 chr 15	NC_000015.10:g.90389972dup
GRCh38.p14 chr 15	NC_000015.10:g.90389971_90389972dup
GRCh38.p14 chr 15	NC_000015.10:g.90389970_90389972dup
GRCh37.p13 chr 15	NC_000015.9:g.90933198_90933204del
GRCh37.p13 chr 15	NC_000015.9:g.90933199_90933204del
GRCh37.p13 chr 15	NC_000015.9:g.90933200_90933204del
GRCh37.p13 chr 15	NC_000015.9:g.90933201_90933204del
GRCh37.p13 chr 15	NC_000015.9:g.90933202_90933204del
GRCh37.p13 chr 15	NC_000015.9:g.90933203_90933204del
GRCh37.p13 chr 15	NC_000015.9:g.90933204del
GRCh37.p13 chr 15	NC_000015.9:g.90933204dup
GRCh37.p13 chr 15	NC_000015.9:g.90933203_90933204dup
GRCh37.p13 chr 15	NC_000015.9:g.90933202_90933204dup
IQGAP1 RefSeqGene	NG_052946.1:g.6726_6732del
IQGAP1 RefSeqGene	NG_052946.1:g.6727_6732del
IQGAP1 RefSeqGene	NG_052946.1:g.6728_6732del
IQGAP1 RefSeqGene	NG_052946.1:g.6729_6732del
IQGAP1 RefSeqGene	NG_052946.1:g.6730_6732del
IQGAP1 RefSeqGene	NG_052946.1:g.6731_6732del
IQGAP1 RefSeqGene	NG_052946.1:g.6732del
IQGAP1 RefSeqGene	NG_052946.1:g.6732dup
IQGAP1 RefSeqGene	NG_052946.1:g.6731_6732dup
IQGAP1 RefSeqGene	NG_052946.1:g.6730_6732dup

Gene: IQGAP1, IQ motif containing GTPase activating protein 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
IQGAP1 transcript	NM_003870.4:c.56-808_56-8… NM_003870.4:c.56-808_56-802del	N/A	Intron Variant
IQGAP1 transcript variant X1	XM_047433204.1:c.56-808_5… XM_047433204.1:c.56-808_56-802del	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)₁₈=	del(A)₇	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA
GRCh38.p14 chr 15	NC_000015.10:g.90389955_90389972=	NC_000015.10:g.90389966_90389972del	NC_000015.10:g.90389967_90389972del	NC_000015.10:g.90389968_90389972del	NC_000015.10:g.90389969_90389972del	NC_000015.10:g.90389970_90389972del	NC_000015.10:g.90389971_90389972del	NC_000015.10:g.90389972del	NC_000015.10:g.90389972dup	NC_000015.10:g.90389971_90389972dup	NC_000015.10:g.90389970_90389972dup
GRCh37.p13 chr 15	NC_000015.9:g.90933187_90933204=	NC_000015.9:g.90933198_90933204del	NC_000015.9:g.90933199_90933204del	NC_000015.9:g.90933200_90933204del	NC_000015.9:g.90933201_90933204del	NC_000015.9:g.90933202_90933204del	NC_000015.9:g.90933203_90933204del	NC_000015.9:g.90933204del	NC_000015.9:g.90933204dup	NC_000015.9:g.90933203_90933204dup	NC_000015.9:g.90933202_90933204dup
IQGAP1 RefSeqGene	NG_052946.1:g.6715_6732=	NG_052946.1:g.6726_6732del	NG_052946.1:g.6727_6732del	NG_052946.1:g.6728_6732del	NG_052946.1:g.6729_6732del	NG_052946.1:g.6730_6732del	NG_052946.1:g.6731_6732del	NG_052946.1:g.6732del	NG_052946.1:g.6732dup	NG_052946.1:g.6731_6732dup	NG_052946.1:g.6730_6732dup
IQGAP1 transcript	NM_003870.3:c.56-819=	NM_003870.3:c.56-808_56-802del	NM_003870.3:c.56-807_56-802del	NM_003870.3:c.56-806_56-802del	NM_003870.3:c.56-805_56-802del	NM_003870.3:c.56-804_56-802del	NM_003870.3:c.56-803_56-802del	NM_003870.3:c.56-802del	NM_003870.3:c.56-802dup	NM_003870.3:c.56-803_56-802dup	NM_003870.3:c.56-804_56-802dup
IQGAP1 transcript	NM_003870.4:c.56-819=	NM_003870.4:c.56-808_56-802del	NM_003870.4:c.56-807_56-802del	NM_003870.4:c.56-806_56-802del	NM_003870.4:c.56-805_56-802del	NM_003870.4:c.56-804_56-802del	NM_003870.4:c.56-803_56-802del	NM_003870.4:c.56-802del	NM_003870.4:c.56-802dup	NM_003870.4:c.56-803_56-802dup	NM_003870.4:c.56-804_56-802dup
IQGAP1 transcript variant X1	XM_005254984.1:c.56-819=	XM_005254984.1:c.56-808_56-802del	XM_005254984.1:c.56-807_56-802del	XM_005254984.1:c.56-806_56-802del	XM_005254984.1:c.56-805_56-802del	XM_005254984.1:c.56-804_56-802del	XM_005254984.1:c.56-803_56-802del	XM_005254984.1:c.56-802del	XM_005254984.1:c.56-802dup	XM_005254984.1:c.56-803_56-802dup	XM_005254984.1:c.56-804_56-802dup
IQGAP1 transcript variant X1	XM_047433204.1:c.56-819=	XM_047433204.1:c.56-808_56-802del	XM_047433204.1:c.56-807_56-802del	XM_047433204.1:c.56-806_56-802del	XM_047433204.1:c.56-805_56-802del	XM_047433204.1:c.56-804_56-802del	XM_047433204.1:c.56-803_56-802del	XM_047433204.1:c.56-802del	XM_047433204.1:c.56-802dup	XM_047433204.1:c.56-803_56-802dup	XM_047433204.1:c.56-804_56-802dup

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#.

64 SubSNP, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	DEVINE_LAB	ss15003055	Mar 15, 2016 (147)
2	ABI	ss40574648	Dec 03, 2013 (138)
3	HGSV	ss81097712	Dec 15, 2007 (138)
4	HGSV	ss82580507	Dec 15, 2007 (138)
5	BUSHMAN	ss193396739	Jul 04, 2010 (137)
6	GMI	ss287932087	May 09, 2011 (137)
7	GMI	ss289272880	May 04, 2012 (138)
8	GMI	ss289272881	May 04, 2012 (137)
9	PJP	ss294872905	May 09, 2011 (138)
10	1000GENOMES	ss1375272527	Aug 21, 2014 (142)
11	EVA_UK10K_ALSPAC	ss1708401024	Apr 01, 2015 (144)
12	EVA_UK10K_TWINSUK	ss1708401179	Apr 01, 2015 (144)
13	EVA_UK10K_TWINSUK	ss1710680958	Apr 01, 2015 (144)
14	EVA_UK10K_ALSPAC	ss1710680961	Apr 01, 2015 (144)
15	SWEGEN	ss3013737726	Nov 08, 2017 (151)
16	MCHAISSO	ss3063829539	Nov 08, 2017 (151)
17	MCHAISSO	ss3064668343	Nov 08, 2017 (151)
18	MCHAISSO	ss3065600920	Nov 08, 2017 (151)
19	EVA_DECODE	ss3698441071	Jul 13, 2019 (153)
20	EVA_DECODE	ss3698441072	Jul 13, 2019 (153)
21	EVA_DECODE	ss3698441073	Jul 13, 2019 (153)
22	EVA_DECODE	ss3698441074	Jul 13, 2019 (153)
23	EVA_DECODE	ss3698441075	Jul 13, 2019 (153)
24	ACPOP	ss3741161258	Jul 13, 2019 (153)
25	ACPOP	ss3741161259	Jul 13, 2019 (153)
26	PACBIO	ss3787924571	Jul 13, 2019 (153)
27	PACBIO	ss3792924134	Jul 13, 2019 (153)
28	PACBIO	ss3797808770	Jul 13, 2019 (153)
29	KHV_HUMAN_GENOMES	ss3818734972	Jul 13, 2019 (153)
30	EVA	ss3834370574	Apr 27, 2020 (154)
31	EVA	ss3840788192	Apr 27, 2020 (154)
32	EVA	ss3846278243	Apr 27, 2020 (154)
33	GNOMAD	ss4293647874	Apr 26, 2021 (155)
34	GNOMAD	ss4293647875	Apr 26, 2021 (155)
35	GNOMAD	ss4293647876	Apr 26, 2021 (155)
36	GNOMAD	ss4293647877	Apr 26, 2021 (155)
37	GNOMAD	ss4293647878	Apr 26, 2021 (155)
38	GNOMAD	ss4293647879	Apr 26, 2021 (155)
39	GNOMAD	ss4293647880	Apr 26, 2021 (155)
40	GNOMAD	ss4293647881	Apr 26, 2021 (155)
41	GNOMAD	ss4293647882	Apr 26, 2021 (155)
42	TOMMO_GENOMICS	ss5217504605	Apr 26, 2021 (155)
43	TOMMO_GENOMICS	ss5217504606	Apr 26, 2021 (155)
44	TOMMO_GENOMICS	ss5217504607	Apr 26, 2021 (155)
45	TOMMO_GENOMICS	ss5217504608	Apr 26, 2021 (155)
46	1000G_HIGH_COVERAGE	ss5299424817	Oct 17, 2022 (156)
47	1000G_HIGH_COVERAGE	ss5299424818	Oct 17, 2022 (156)
48	1000G_HIGH_COVERAGE	ss5299424819	Oct 17, 2022 (156)
49	1000G_HIGH_COVERAGE	ss5299424820	Oct 17, 2022 (156)
50	HUGCELL_USP	ss5493038569	Oct 17, 2022 (156)
51	HUGCELL_USP	ss5493038570	Oct 17, 2022 (156)
52	HUGCELL_USP	ss5493038571	Oct 17, 2022 (156)
53	HUGCELL_USP	ss5493038572	Oct 17, 2022 (156)
54	HUGCELL_USP	ss5493038573	Oct 17, 2022 (156)
55	EVA	ss5511517905	Oct 17, 2022 (156)
56	TOMMO_GENOMICS	ss5771707328	Oct 17, 2022 (156)
57	TOMMO_GENOMICS	ss5771707329	Oct 17, 2022 (156)
58	TOMMO_GENOMICS	ss5771707330	Oct 17, 2022 (156)
59	TOMMO_GENOMICS	ss5771707331	Oct 17, 2022 (156)
60	EVA	ss5828579563	Oct 17, 2022 (156)
61	EVA	ss5828579564	Oct 17, 2022 (156)
62	EVA	ss5828579565	Oct 17, 2022 (156)
63	EVA	ss5851405894	Oct 17, 2022 (156)
64	EVA	ss5876996496	Oct 17, 2022 (156)
65	1000Genomes	NC_000015.9 - 90933187	Oct 12, 2018 (152)
66	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 37590053 (NC_000015.9:90933186:AAA: 1039/3854) Row 37590054 (NC_000015.9:90933187:A: 1121/3854)	-	Oct 12, 2018 (152)
67	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 37590053 (NC_000015.9:90933186:AAA: 1039/3854) Row 37590054 (NC_000015.9:90933187:A: 1121/3854)	-	Oct 12, 2018 (152)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 477222968 (NC_000015.10:90389954::A 97/114916) Row 477222969 (NC_000015.10:90389954::AA 4/114948) Row 477222970 (NC_000015.10:90389954:A: 1215/114902)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 477222968 (NC_000015.10:90389954::A 97/114916) Row 477222969 (NC_000015.10:90389954::AA 4/114948) Row 477222970 (NC_000015.10:90389954:A: 1215/114902)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 477222968 (NC_000015.10:90389954::A 97/114916) Row 477222969 (NC_000015.10:90389954::AA 4/114948) Row 477222970 (NC_000015.10:90389954:A: 1215/114902)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 477222968 (NC_000015.10:90389954::A 97/114916) Row 477222969 (NC_000015.10:90389954::AA 4/114948) Row 477222970 (NC_000015.10:90389954:A: 1215/114902)...	-	Apr 26, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 477222968 (NC_000015.10:90389954::A 97/114916) Row 477222969 (NC_000015.10:90389954::AA 4/114948) Row 477222970 (NC_000015.10:90389954:A: 1215/114902)...	-	Apr 26, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 477222968 (NC_000015.10:90389954::A 97/114916) Row 477222969 (NC_000015.10:90389954::AA 4/114948) Row 477222970 (NC_000015.10:90389954:A: 1215/114902)...	-	Apr 26, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 477222968 (NC_000015.10:90389954::A 97/114916) Row 477222969 (NC_000015.10:90389954::AA 4/114948) Row 477222970 (NC_000015.10:90389954:A: 1215/114902)...	-	Apr 26, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 477222968 (NC_000015.10:90389954::A 97/114916) Row 477222969 (NC_000015.10:90389954::AA 4/114948) Row 477222970 (NC_000015.10:90389954:A: 1215/114902)...	-	Apr 26, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 477222968 (NC_000015.10:90389954::A 97/114916) Row 477222969 (NC_000015.10:90389954::AA 4/114948) Row 477222970 (NC_000015.10:90389954:A: 1215/114902)...	-	Apr 26, 2021 (155)
77	Northern Sweden Submission ignored due to conflicting rows: Row 14446123 (NC_000015.9:90933186:AAA: 63/526) Row 14446124 (NC_000015.9:90933186:AA: 56/526)	-	Jul 13, 2019 (153)
78	Northern Sweden Submission ignored due to conflicting rows: Row 14446123 (NC_000015.9:90933186:AAA: 63/526) Row 14446124 (NC_000015.9:90933186:AA: 56/526)	-	Jul 13, 2019 (153)
79	8.3KJPN Submission ignored due to conflicting rows: Row 75473912 (NC_000015.9:90933186:AAA: 6966/16724) Row 75473913 (NC_000015.9:90933186:AA: 3394/16724) Row 75473914 (NC_000015.9:90933186:A: 2348/16724)...	-	Apr 26, 2021 (155)
80	8.3KJPN Submission ignored due to conflicting rows: Row 75473912 (NC_000015.9:90933186:AAA: 6966/16724) Row 75473913 (NC_000015.9:90933186:AA: 3394/16724) Row 75473914 (NC_000015.9:90933186:A: 2348/16724)...	-	Apr 26, 2021 (155)
81	8.3KJPN Submission ignored due to conflicting rows: Row 75473912 (NC_000015.9:90933186:AAA: 6966/16724) Row 75473913 (NC_000015.9:90933186:AA: 3394/16724) Row 75473914 (NC_000015.9:90933186:A: 2348/16724)...	-	Apr 26, 2021 (155)
82	8.3KJPN Submission ignored due to conflicting rows: Row 75473912 (NC_000015.9:90933186:AAA: 6966/16724) Row 75473913 (NC_000015.9:90933186:AA: 3394/16724) Row 75473914 (NC_000015.9:90933186:A: 2348/16724)...	-	Apr 26, 2021 (155)
83	14KJPN Submission ignored due to conflicting rows: Row 105544432 (NC_000015.10:90389954:AAA: 11783/27848) Row 105544433 (NC_000015.10:90389954:AA: 5442/27848) Row 105544434 (NC_000015.10:90389954:A: 3734/27848)...	-	Oct 17, 2022 (156)
84	14KJPN Submission ignored due to conflicting rows: Row 105544432 (NC_000015.10:90389954:AAA: 11783/27848) Row 105544433 (NC_000015.10:90389954:AA: 5442/27848) Row 105544434 (NC_000015.10:90389954:A: 3734/27848)...	-	Oct 17, 2022 (156)
85	14KJPN Submission ignored due to conflicting rows: Row 105544432 (NC_000015.10:90389954:AAA: 11783/27848) Row 105544433 (NC_000015.10:90389954:AA: 5442/27848) Row 105544434 (NC_000015.10:90389954:A: 3734/27848)...	-	Oct 17, 2022 (156)
86	14KJPN Submission ignored due to conflicting rows: Row 105544432 (NC_000015.10:90389954:AAA: 11783/27848) Row 105544433 (NC_000015.10:90389954:AA: 5442/27848) Row 105544434 (NC_000015.10:90389954:A: 3734/27848)...	-	Oct 17, 2022 (156)
87	UK 10K study - Twins Submission ignored due to conflicting rows: Row 37590053 (NC_000015.9:90933186:AAA: 894/3708) Row 37590054 (NC_000015.9:90933187:A: 1093/3708)	-	Oct 12, 2018 (152)
88	UK 10K study - Twins Submission ignored due to conflicting rows: Row 37590053 (NC_000015.9:90933186:AAA: 894/3708) Row 37590054 (NC_000015.9:90933187:A: 1093/3708)	-	Oct 12, 2018 (152)
89	ALFA	NC_000015.10 - 90389955	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)
rs10581338	May 11, 2012 (137)
rs33937103	May 23, 2006 (127)
rs33949402	May 23, 2006 (127)
rs35217923	May 11, 2012 (137)
rs59823549	Apr 25, 2013 (138)
rs151224790	Sep 17, 2011 (135)
rs201155344	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4293647882	NC_000015.10:90389954:AAAAAAA:	NC_000015.10:90389954:AAAAAAAAAAAA… NC_000015.10:90389954:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
10718871897	NC_000015.10:90389954:AAAAAAAAAAAA… NC_000015.10:90389954:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000015.10:90389954:AAAAAAAAAAAA… NC_000015.10:90389954:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss4293647881	NC_000015.10:90389954:AAAAAA:	NC_000015.10:90389954:AAAAAAAAAAAA… NC_000015.10:90389954:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
10718871897	NC_000015.10:90389954:AAAAAAAAAAAA… NC_000015.10:90389954:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000015.10:90389954:AAAAAAAAAAAA… NC_000015.10:90389954:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4293647880	NC_000015.10:90389954:AAAAA:	NC_000015.10:90389954:AAAAAAAAAAAA… NC_000015.10:90389954:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3787924571, ss5828579565	NC_000015.9:90933186:AAAA:	NC_000015.10:90389954:AAAAAAAAAAAA… NC_000015.10:90389954:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3698441075, ss4293647879, ss5493038573	NC_000015.10:90389954:AAAA:	NC_000015.10:90389954:AAAAAAAAAAAA… NC_000015.10:90389954:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
10718871897	NC_000015.10:90389954:AAAAAAAAAAAA… NC_000015.10:90389954:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000015.10:90389954:AAAAAAAAAAAA… NC_000015.10:90389954:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss289272880	NC_000015.8:88734190:AAA:	NC_000015.10:90389954:AAAAAAAAAAAA… NC_000015.10:90389954:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss81097712, ss82580507, ss294872905	NC_000015.8:88734205:AAA:	NC_000015.10:90389954:AAAAAAAAAAAA… NC_000015.10:90389954:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
67687895, ss1375272527, ss1708401024, ss1708401179, ss3013737726, ss3741161258, ss3792924134, ss3797808770, ss3834370574, ss5217504605, ss5828579563	NC_000015.9:90933186:AAA:	NC_000015.10:90389954:AAAAAAAAAAAA… NC_000015.10:90389954:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3063829539, ss3064668343, ss3065600920, ss3818734972, ss4293647878, ss5299424818, ss5493038569, ss5771707328, ss5851405894, ss5876996496	NC_000015.10:90389954:AAA:	NC_000015.10:90389954:AAAAAAAAAAAA… NC_000015.10:90389954:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
10718871897	NC_000015.10:90389954:AAAAAAAAAAAA… NC_000015.10:90389954:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000015.10:90389954:AAAAAAAAAAAA… NC_000015.10:90389954:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3698441074	NC_000015.10:90389955:AAA:	NC_000015.10:90389954:AAAAAAAAAAAA… NC_000015.10:90389954:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss193396739	NT_010194.18:67113080:AAA:	NC_000015.10:90389954:AAAAAAAAAAAA… NC_000015.10:90389954:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss287932087	NT_010274.17:5898713:AAA:	NC_000015.10:90389954:AAAAAAAAAAAA… NC_000015.10:90389954:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss15003055	NT_010274.17:5898728:AAA:	NC_000015.10:90389954:AAAAAAAAAAAA… NC_000015.10:90389954:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss289272881	NC_000015.8:88734190:AA:	NC_000015.10:90389954:AAAAAAAAAAAA… NC_000015.10:90389954:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3741161259, ss3840788192, ss5217504606, ss5828579564	NC_000015.9:90933186:AA:	NC_000015.10:90389954:AAAAAAAAAAAA… NC_000015.10:90389954:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss1710680958, ss1710680961	NC_000015.9:90933187:AA:	NC_000015.10:90389954:AAAAAAAAAAAA… NC_000015.10:90389954:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3846278243, ss4293647877, ss5299424817, ss5493038570, ss5771707329	NC_000015.10:90389954:AA:	NC_000015.10:90389954:AAAAAAAAAAAA… NC_000015.10:90389954:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
10718871897	NC_000015.10:90389954:AAAAAAAAAAAA… NC_000015.10:90389954:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000015.10:90389954:AAAAAAAAAAAA… NC_000015.10:90389954:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3698441073	NC_000015.10:90389956:AA:	NC_000015.10:90389954:AAAAAAAAAAAA… NC_000015.10:90389954:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss5217504607	NC_000015.9:90933186:A:	NC_000015.10:90389954:AAAAAAAAAAAA… NC_000015.10:90389954:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
	NC_000015.9:90933187:A:	NC_000015.10:90389954:AAAAAAAAAAAA… NC_000015.10:90389954:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4293647876, ss5299424819, ss5493038571, ss5771707330	NC_000015.10:90389954:A:	NC_000015.10:90389954:AAAAAAAAAAAA… NC_000015.10:90389954:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
10718871897	NC_000015.10:90389954:AAAAAAAAAAAA… NC_000015.10:90389954:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000015.10:90389954:AAAAAAAAAAAA… NC_000015.10:90389954:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3698441072	NC_000015.10:90389957:A:	NC_000015.10:90389954:AAAAAAAAAAAA… NC_000015.10:90389954:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss40574648	NT_010274.17:5898713:A:	NC_000015.10:90389954:AAAAAAAAAAAA… NC_000015.10:90389954:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss5217504608	NC_000015.9:90933186::A	NC_000015.10:90389954:AAAAAAAAAAAA… NC_000015.10:90389954:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4293647874, ss5299424820, ss5493038572, ss5771707331	NC_000015.10:90389954::A	NC_000015.10:90389954:AAAAAAAAAAAA… NC_000015.10:90389954:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
10718871897	NC_000015.10:90389954:AAAAAAAAAAAA… NC_000015.10:90389954:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000015.10:90389954:AAAAAAAAAAAA… NC_000015.10:90389954:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3698441071	NC_000015.10:90389958::A	NC_000015.10:90389954:AAAAAAAAAAAA… NC_000015.10:90389954:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4293647875	NC_000015.10:90389954::AA	NC_000015.10:90389954:AAAAAAAAAAAA… NC_000015.10:90389954:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
10718871897	NC_000015.10:90389954:AAAAAAAAAAAA… NC_000015.10:90389954:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000015.10:90389954:AAAAAAAAAAAA… NC_000015.10:90389954:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss40574648	NT_010274.17:5898713:A:AAA	NC_000015.10:90389954:AAAAAAAAAAAA… NC_000015.10:90389954:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss5511517905	NC_000015.9:90933186::AAA	NC_000015.10:90389954:AAAAAAAAAAAA… NC_000015.10:90389954:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

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

No publications for rs5814431

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

rs5814431