Name: rs8997
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.

rs8997

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:1014274 (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: A>G / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.176384 (46687/264690, TOPMED)
A=0.169828 (23815/140230, GnomAD)
A=0.07771 (5918/76154, ALFA) (+ 20 more)
A=0.04201 (1187/28256, 14KJPN)
A=0.04261 (714/16758, 8.3KJPN)
A=0.17964 (2336/13004, GO-ESP)
A=0.1790 (1146/6404, 1000G_30x)
A=0.1743 (873/5008, 1000G)
A=0.0424 (190/4480, Estonian)
A=0.0441 (170/3854, ALSPAC)
A=0.0475 (176/3708, TWINSUK)
A=0.0706 (207/2930, KOREAN)
A=0.0546 (100/1832, Korea1K)
A=0.034 (34/998, GoNL)
A=0.067 (41/610, Vietnamese)
A=0.042 (25/600, NorthernSweden)
A=0.283 (151/534, MGP)
A=0.086 (45/524, SGDP_PRJ)
A=0.043 (13/304, FINRISK)
A=0.204 (44/216, Qatari)
A=0.09 (5/56, Siberian)
A=0.03 (1/40, GENOME_DK)
A=0.11 (2/18, Ancient Sardinia)

Clinical Significance: Reported in ClinVar
Gene : Consequence: ISG15 : Synonymous 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: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	92494	A=0.09249	G=0.90751
European	Sub	67710	A=0.05283	G=0.94717
African	Sub	8938	A=0.4143	G=0.5857
African Others	Sub	324	A=0.506	G=0.494
African American	Sub	8614	A=0.4108	G=0.5892
Asian	Sub	470	A=0.055	G=0.945
East Asian	Sub	380	A=0.061	G=0.939
Other Asian	Sub	90	A=0.03	G=0.97
Latin American 1	Sub	610	A=0.192	G=0.808
Latin American 2	Sub	4918	A=0.0525	G=0.9475
South Asian	Sub	132	A=0.038	G=0.962
Other	Sub	9716	A=0.0894	G=0.9106

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=0.176384	G=0.823616
gnomAD - Genomes	Global	Study-wide	140230	A=0.169828	G=0.830172
gnomAD - Genomes	European	Sub	75960	A=0.04957	G=0.95043
gnomAD - Genomes	African	Sub	41998	A=0.42952	G=0.57048
gnomAD - Genomes	American	Sub	13662	A=0.08242	G=0.91758
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	A=0.0945	G=0.9055
gnomAD - Genomes	East Asian	Sub	3132	A=0.0821	G=0.9179
gnomAD - Genomes	Other	Sub	2154	A=0.1458	G=0.8542
Allele Frequency Aggregator	Total	Global	76154	A=0.07771	G=0.92229
Allele Frequency Aggregator	European	Sub	57632	A=0.05483	G=0.94517
Allele Frequency Aggregator	Other	Sub	8282	A=0.0866	G=0.9134
Allele Frequency Aggregator	Latin American 2	Sub	4918	A=0.0525	G=0.9475
Allele Frequency Aggregator	African	Sub	4110	A=0.3978	G=0.6022
Allele Frequency Aggregator	Latin American 1	Sub	610	A=0.192	G=0.808
Allele Frequency Aggregator	Asian	Sub	470	A=0.055	G=0.945
Allele Frequency Aggregator	South Asian	Sub	132	A=0.038	G=0.962
14KJPN	JAPANESE	Study-wide	28256	A=0.04201	G=0.95799
8.3KJPN	JAPANESE	Study-wide	16758	A=0.04261	G=0.95739
GO Exome Sequencing Project	Global	Study-wide	13004	A=0.17964	G=0.82036
GO Exome Sequencing Project	European American	Sub	8598	A=0.0530	G=0.9470
GO Exome Sequencing Project	African American	Sub	4406	A=0.4267	G=0.5733
1000Genomes_30x	Global	Study-wide	6404	A=0.1790	G=0.8210
1000Genomes_30x	African	Sub	1786	A=0.4849	G=0.5151
1000Genomes_30x	Europe	Sub	1266	A=0.0529	G=0.9471
1000Genomes_30x	South Asian	Sub	1202	A=0.0366	G=0.9634
1000Genomes_30x	East Asian	Sub	1170	A=0.0761	G=0.9239
1000Genomes_30x	American	Sub	980	A=0.082	G=0.918
1000Genomes	Global	Study-wide	5008	A=0.1743	G=0.8257
1000Genomes	African	Sub	1322	A=0.4917	G=0.5083
1000Genomes	East Asian	Sub	1008	A=0.0734	G=0.9266
1000Genomes	Europe	Sub	1006	A=0.0547	G=0.9453
1000Genomes	South Asian	Sub	978	A=0.038	G=0.962
1000Genomes	American	Sub	694	A=0.082	G=0.918
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.0424	G=0.9576
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.0441	G=0.9559
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.0475	G=0.9525
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.0706	G=0.9294
Korean Genome Project	KOREAN	Study-wide	1832	A=0.0546	G=0.9454
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.034	G=0.966
A Vietnamese Genetic Variation Database	Global	Study-wide	610	A=0.067	G=0.933
Northern Sweden	ACPOP	Study-wide	600	A=0.042	G=0.958
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	A=0.283	G=0.717
SGDP_PRJ	Global	Study-wide	524	A=0.086	G=0.914
FINRISK	Finnish from FINRISK project	Study-wide	304	A=0.043	G=0.957
Qatari	Global	Study-wide	216	A=0.204	G=0.796
Siberian	Global	Study-wide	56	A=0.09	G=0.91
The Danish reference pan genome	Danish	Study-wide	40	A=0.03	G=0.97
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	18	A=0.11	G=0.89

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.1014274A>G
GRCh38.p14 chr 1	NC_000001.11:g.1014274A>T
GRCh37.p13 chr 1	NC_000001.10:g.949654A>G
GRCh37.p13 chr 1	NC_000001.10:g.949654A>T
ISG15 RefSeqGene (LRG_1231)	NG_033033.2:g.18137A>G
ISG15 RefSeqGene (LRG_1231)	NG_033033.2:g.18137A>T

Gene: ISG15, ISG15 ubiquitin like modifier (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ISG15 transcript	NM_005101.4:c.294A>G	V [GTA] > V [GTG]	Coding Sequence Variant
ubiquitin-like protein ISG15	NP_005092.1:p.Val98=	V (Val) > V (Val)	Synonymous Variant
ISG15 transcript	NM_005101.4:c.294A>T	V [GTA] > V [GTT]	Coding Sequence Variant
ubiquitin-like protein ISG15	NP_005092.1:p.Val98=	V (Val) > V (Val)	Synonymous 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: G (allele ID: 1153151 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001514848.6	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	Benign
RCV001732198.2	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=	G	T
GRCh38.p14 chr 1	NC_000001.11:g.1014274=	NC_000001.11:g.1014274A>G	NC_000001.11:g.1014274A>T
GRCh37.p13 chr 1	NC_000001.10:g.949654=	NC_000001.10:g.949654A>G	NC_000001.10:g.949654A>T
ISG15 RefSeqGene (LRG_1231)	NG_033033.2:g.18137=	NG_033033.2:g.18137A>G	NG_033033.2:g.18137A>T
ISG15 transcript	NM_005101.4:c.294=	NM_005101.4:c.294A>G	NM_005101.4:c.294A>T
ISG15 transcript	NM_005101.3:c.294=	NM_005101.3:c.294A>G	NM_005101.3:c.294A>T
ubiquitin-like protein ISG15	NP_005092.1:p.Val98=	NP_005092.1:p.Val98=	NP_005092.1:p.Val98=

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#.

123 SubSNP, 27 Frequency, 2 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	CGAP-GAI	ss11041	Sep 19, 2000 (52)
2	LEE	ss1509562	Oct 13, 2000 (89)
3	SC_JCM	ss4375031	Mar 26, 2002 (103)
4	LEE	ss4403706	May 29, 2002 (106)
5	CGAP-GAI	ss16260472	Feb 27, 2004 (120)
6	SSAHASNP	ss22882203	Apr 05, 2004 (121)
7	MGC_GENOME_DIFF	ss28504820	Sep 24, 2004 (126)
8	ABI	ss41138867	Mar 11, 2006 (126)
9	CORNELL	ss86237322	Mar 23, 2008 (129)
10	BCMHGSC_JDW	ss87157498	Mar 23, 2008 (129)
11	HUMANGENOME_JCVI	ss97913503	Feb 06, 2009 (130)
12	BGI	ss105112009	Dec 01, 2009 (131)
13	1000GENOMES	ss109939815	Jan 24, 2009 (130)
14	ILLUMINA-UK	ss118439697	Feb 14, 2009 (130)
15	ENSEMBL	ss131826404	Dec 01, 2009 (131)
16	ENSEMBL	ss137753977	Dec 01, 2009 (131)
17	GMI	ss154526325	Dec 01, 2009 (131)
18	SEATTLESEQ	ss159695667	Dec 01, 2009 (131)
19	ILLUMINA	ss159848597	Dec 01, 2009 (131)
20	COMPLETE_GENOMICS	ss162982378	Jul 04, 2010 (132)
21	COMPLETE_GENOMICS	ss163705520	Jul 04, 2010 (132)
22	ILLUMINA	ss168871308	Jul 04, 2010 (132)
23	BUSHMAN	ss197887408	Jul 04, 2010 (132)
24	BCM-HGSC-SUB	ss205503442	Jul 04, 2010 (132)
25	1000GENOMES	ss210446507	Jul 14, 2010 (132)
26	1000GENOMES	ss218191406	Jul 14, 2010 (132)
27	1000GENOMES	ss230396129	Jul 14, 2010 (132)
28	1000GENOMES	ss238115719	Jul 15, 2010 (132)
29	BL	ss252865808	May 09, 2011 (134)
30	GMI	ss275682066	May 04, 2012 (137)
31	GMI	ss283987930	Apr 25, 2013 (138)
32	PJP	ss290494158	May 09, 2011 (134)
33	NHLBI-ESP	ss341923950	May 09, 2011 (134)
34	ILLUMINA	ss479154493	Sep 08, 2015 (146)
35	ILLUMINA	ss482436361	May 04, 2012 (137)
36	ILLUMINA	ss483944347	May 04, 2012 (137)
37	1000GENOMES	ss489714325	May 04, 2012 (137)
38	CLINSEQ_SNP	ss491581765	May 04, 2012 (137)
39	ILLUMINA	ss536138350	Sep 08, 2015 (146)
40	SSMP	ss647517695	Apr 25, 2013 (138)
41	ILLUMINA	ss780467242	Aug 21, 2014 (142)
42	ILLUMINA	ss782416046	Aug 21, 2014 (142)
43	ILLUMINA	ss835957486	Aug 21, 2014 (142)
44	JMKIDD_LAB	ss974432464	Aug 21, 2014 (142)
45	EVA-GONL	ss974771079	Aug 21, 2014 (142)
46	JMKIDD_LAB	ss1067414355	Aug 21, 2014 (142)
47	JMKIDD_LAB	ss1067613200	Aug 21, 2014 (142)
48	1000GENOMES	ss1289346347	Aug 21, 2014 (142)
49	DDI	ss1425685503	Apr 01, 2015 (144)
50	EVA_GENOME_DK	ss1573851697	Apr 01, 2015 (144)
51	EVA_FINRISK	ss1584003605	Apr 01, 2015 (144)
52	EVA_DECODE	ss1584131006	Apr 01, 2015 (144)
53	EVA_UK10K_ALSPAC	ss1599380916	Apr 01, 2015 (144)
54	EVA_UK10K_TWINSUK	ss1642374949	Apr 01, 2015 (144)
55	EVA_EXAC	ss1685222163	Apr 01, 2015 (144)
56	EVA_EXAC	ss1685222164	Apr 01, 2015 (144)
57	EVA_MGP	ss1710883566	Apr 01, 2015 (144)
58	WEILL_CORNELL_DGM	ss1917962646	Feb 12, 2016 (147)
59	GENOMED	ss1966667624	Jul 19, 2016 (147)
60	JJLAB	ss2019499315	Sep 14, 2016 (149)
61	USC_VALOUEV	ss2147485880	Dec 20, 2016 (150)
62	HUMAN_LONGEVITY	ss2159378066	Dec 20, 2016 (150)
63	SYSTEMSBIOZJU	ss2624265247	Nov 08, 2017 (151)
64	ILLUMINA	ss2632465652	Nov 08, 2017 (151)
65	GRF	ss2697376868	Nov 08, 2017 (151)
66	GNOMAD	ss2730994117	Nov 08, 2017 (151)
67	GNOMAD	ss2746172080	Nov 08, 2017 (151)
68	GNOMAD	ss2750660064	Nov 08, 2017 (151)
69	SWEGEN	ss2986152652	Nov 08, 2017 (151)
70	BIOINF_KMB_FNS_UNIBA	ss3023514079	Nov 08, 2017 (151)
71	CSHL	ss3343273694	Nov 08, 2017 (151)
72	ILLUMINA	ss3626006908	Oct 11, 2018 (152)
73	ILLUMINA	ss3630505732	Oct 11, 2018 (152)
74	ILLUMINA	ss3635978676	Oct 11, 2018 (152)
75	ILLUMINA	ss3637732449	Oct 11, 2018 (152)
76	ILLUMINA	ss3641566276	Oct 11, 2018 (152)
77	OMUKHERJEE_ADBS	ss3646218863	Oct 11, 2018 (152)
78	URBANLAB	ss3646581638	Oct 11, 2018 (152)
79	EGCUT_WGS	ss3654263837	Jul 12, 2019 (153)
80	EVA_DECODE	ss3685995747	Jul 12, 2019 (153)
81	ACPOP	ss3726717827	Jul 12, 2019 (153)
82	EVA	ss3745723078	Jul 12, 2019 (153)
83	PACBIO	ss3783302800	Jul 12, 2019 (153)
84	PACBIO	ss3788980531	Jul 12, 2019 (153)
85	PACBIO	ss3793853081	Jul 12, 2019 (153)
86	KHV_HUMAN_GENOMES	ss3798745721	Jul 12, 2019 (153)
87	EVA	ss3823542298	Apr 25, 2020 (154)
88	EVA	ss3825549083	Apr 25, 2020 (154)
89	EVA	ss3825982202	Apr 25, 2020 (154)
90	EVA	ss3836378836	Apr 25, 2020 (154)
91	EVA	ss3841782860	Apr 25, 2020 (154)
92	SGDP_PRJ	ss3848000771	Apr 25, 2020 (154)
93	KRGDB	ss3892842944	Apr 25, 2020 (154)
94	KOGIC	ss3943633789	Apr 25, 2020 (154)
95	FSA-LAB	ss3983910516	Apr 25, 2021 (155)
96	FSA-LAB	ss3983910517	Apr 25, 2021 (155)
97	EVA	ss3984774085	Apr 25, 2021 (155)
98	EVA	ss3986007834	Apr 25, 2021 (155)
99	EVA	ss3986090939	Apr 25, 2021 (155)
100	TOPMED	ss4436488825	Apr 25, 2021 (155)
101	TOMMO_GENOMICS	ss5142061512	Apr 25, 2021 (155)
102	EVA	ss5236862360	Apr 25, 2021 (155)
103	EVA	ss5237158383	Apr 25, 2021 (155)
104	1000G_HIGH_COVERAGE	ss5240869885	Oct 12, 2022 (156)
105	EVA	ss5314585991	Oct 12, 2022 (156)
106	EVA	ss5316194300	Oct 12, 2022 (156)
107	HUGCELL_USP	ss5442117307	Oct 12, 2022 (156)
108	1000G_HIGH_COVERAGE	ss5512497192	Oct 12, 2022 (156)
109	EVA	ss5623912103	Oct 12, 2022 (156)
110	EVA	ss5623985565	Oct 12, 2022 (156)
111	SANFORD_IMAGENETICS	ss5624753349	Oct 12, 2022 (156)
112	TOMMO_GENOMICS	ss5666203896	Oct 12, 2022 (156)
113	EVA	ss5800045155	Oct 12, 2022 (156)
114	EVA	ss5800076409	Oct 12, 2022 (156)
115	YY_MCH	ss5800245466	Oct 12, 2022 (156)
116	EVA	ss5831421212	Oct 12, 2022 (156)
117	EVA	ss5848243278	Oct 12, 2022 (156)
118	EVA	ss5848749461	Oct 12, 2022 (156)
119	EVA	ss5906711165	Oct 12, 2022 (156)
120	EVA	ss5936507373	Oct 12, 2022 (156)
121	EVA	ss5936585850	Oct 12, 2022 (156)
122	EVA	ss5979926308	Oct 12, 2022 (156)
123	EVA	ss5981189306	Oct 12, 2022 (156)
124	1000Genomes	NC_000001.10 - 949654	Oct 11, 2018 (152)
125	1000Genomes_30x	NC_000001.11 - 1014274	Oct 12, 2022 (156)
126	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 949654	Oct 11, 2018 (152)
127	Genetic variation in the Estonian population	NC_000001.10 - 949654	Oct 11, 2018 (152)
128	ExAC Submission ignored due to conflicting rows: Row 4395615 (NC_000001.10:949653:A:A 10608/120752, NC_000001.10:949653:A:G 110144/120752) Row 4395616 (NC_000001.10:949653:A:A 120749/120752, NC_000001.10:949653:A:T 3/120752)	-	Oct 11, 2018 (152)
129	ExAC Submission ignored due to conflicting rows: Row 4395615 (NC_000001.10:949653:A:A 10608/120752, NC_000001.10:949653:A:G 110144/120752) Row 4395616 (NC_000001.10:949653:A:A 120749/120752, NC_000001.10:949653:A:T 3/120752)	-	Oct 11, 2018 (152)
130	FINRISK	NC_000001.10 - 949654	Apr 25, 2020 (154)
131	The Danish reference pan genome	NC_000001.10 - 949654	Apr 25, 2020 (154)
132	gnomAD - Genomes	NC_000001.11 - 1014274	Apr 25, 2021 (155)
133	gnomAD - Exomes Submission ignored due to conflicting rows: Row 8943 (NC_000001.10:949653:A:A 20339/250474, NC_000001.10:949653:A:G 230135/250474) Row 8944 (NC_000001.10:949653:A:A 250471/250474, NC_000001.10:949653:A:T 3/250474)	-	Jul 12, 2019 (153)
134	gnomAD - Exomes Submission ignored due to conflicting rows: Row 8943 (NC_000001.10:949653:A:A 20339/250474, NC_000001.10:949653:A:G 230135/250474) Row 8944 (NC_000001.10:949653:A:A 250471/250474, NC_000001.10:949653:A:T 3/250474)	-	Jul 12, 2019 (153)
135	GO Exome Sequencing Project	NC_000001.10 - 949654	Oct 11, 2018 (152)
136	Genome of the Netherlands Release 5	NC_000001.10 - 949654	Apr 25, 2020 (154)
137	KOREAN population from KRGDB	NC_000001.10 - 949654	Apr 25, 2020 (154)
138	Korean Genome Project	NC_000001.11 - 1014274	Apr 25, 2020 (154)
139	Medical Genome Project healthy controls from Spanish population	NC_000001.10 - 949654	Apr 25, 2020 (154)
140	Northern Sweden	NC_000001.10 - 949654	Jul 12, 2019 (153)
141	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000001.10 - 949654	Apr 25, 2021 (155)
142	Qatari	NC_000001.10 - 949654	Apr 25, 2020 (154)
143	SGDP_PRJ	NC_000001.10 - 949654	Apr 25, 2020 (154)
144	Siberian	NC_000001.10 - 949654	Apr 25, 2020 (154)
145	8.3KJPN	NC_000001.10 - 949654	Apr 25, 2021 (155)
146	14KJPN	NC_000001.11 - 1014274	Oct 12, 2022 (156)
147	TopMed	NC_000001.11 - 1014274	Apr 25, 2021 (155)
148	UK 10K study - Twins	NC_000001.10 - 949654	Oct 11, 2018 (152)
149	A Vietnamese Genetic Variation Database	NC_000001.10 - 949654	Jul 12, 2019 (153)
150	ALFA	NC_000001.11 - 1014274	Apr 25, 2021 (155)
151	ClinVar	RCV001514848.6	Oct 12, 2022 (156)
152	ClinVar	RCV001732198.2	Oct 12, 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)
rs1126684	Nov 09, 2000 (89)
rs3181838	Jul 03, 2002 (106)
rs17850518	Mar 11, 2006 (126)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss87157498, ss109939815, ss118439697, ss159848597, ss162982378, ss163705520, ss197887408, ss205503442, ss210446507, ss252865808, ss275682066, ss283987930, ss290494158, ss482436361, ss491581765, ss1584131006	NC_000001.9:939516:A:G	NC_000001.11:1014273:A:G	(self)
11351, 3153, 2085, 66, 1358931, 1035, 1708, 20338, 318, 2692, 12, 4576, 17751, 2234, 30819, 3153, 720, ss218191406, ss230396129, ss238115719, ss341923950, ss479154493, ss483944347, ss489714325, ss536138350, ss647517695, ss780467242, ss782416046, ss835957486, ss974432464, ss974771079, ss1067414355, ss1067613200, ss1289346347, ss1425685503, ss1573851697, ss1584003605, ss1599380916, ss1642374949, ss1685222163, ss1710883566, ss1917962646, ss1966667624, ss2019499315, ss2147485880, ss2624265247, ss2632465652, ss2697376868, ss2730994117, ss2746172080, ss2750660064, ss2986152652, ss3343273694, ss3626006908, ss3630505732, ss3635978676, ss3637732449, ss3641566276, ss3646218863, ss3654263837, ss3726717827, ss3745723078, ss3783302800, ss3788980531, ss3793853081, ss3823542298, ss3825549083, ss3825982202, ss3836378836, ss3848000771, ss3892842944, ss3983910516, ss3983910517, ss3984774085, ss3986007834, ss3986090939, ss5142061512, ss5314585991, ss5316194300, ss5623912103, ss5623985565, ss5624753349, ss5800045155, ss5800076409, ss5831421212, ss5848243278, ss5936507373, ss5936585850, ss5979926308, ss5981189306	NC_000001.10:949653:A:G	NC_000001.11:1014273:A:G	(self)
RCV001514848.6, RCV001732198.2, 23127, 113552, 11790, 41000, 95160, 7790287734, ss2159378066, ss3023514079, ss3646581638, ss3685995747, ss3798745721, ss3841782860, ss3943633789, ss4436488825, ss5236862360, ss5237158383, ss5240869885, ss5442117307, ss5512497192, ss5666203896, ss5800245466, ss5848749461, ss5906711165	NC_000001.11:1014273:A:G	NC_000001.11:1014273:A:G	(self)
ss11041, ss1509562, ss4375031, ss4403706, ss16260472, ss22882203, ss28504820, ss41138867, ss86237322, ss97913503, ss105112009, ss131826404, ss137753977, ss154526325, ss159695667, ss168871308	NT_004350.19:428285:A:G	NC_000001.11:1014273:A:G	(self)
ss1685222164, ss2730994117	NC_000001.10:949653:A:T	NC_000001.11:1014273:A:T	(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 rs8997

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

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Genomic regions, transcripts, and products
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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.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs8997