Name: rs9956865
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.

rs9956865

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr18:31388996 (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: C>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.198281 (52483/264690, TOPMED)
C=0.219038 (54993/251066, GnomAD_exome)
C=0.223873 (38871/173630, ALFA) (+ 22 more)
C=0.212745 (29775/139956, GnomAD)
C=0.225731 (27387/121326, ExAC)
C=0.02431 (687/28258, 14KJPN)
C=0.02357 (395/16760, 8.3KJPN)
C=0.22124 (2877/13004, GO-ESP)
C=0.1918 (1228/6404, 1000G_30x)
C=0.1951 (977/5008, 1000G)
C=0.2339 (1048/4480, Estonian)
C=0.2499 (963/3854, ALSPAC)
C=0.2648 (982/3708, TWINSUK)
C=0.0177 (52/2930, KOREAN)
C=0.1586 (300/1892, HapMap)
C=0.0180 (33/1832, Korea1K)
C=0.214 (214/998, GoNL)
C=0.096 (59/614, Vietnamese)
C=0.313 (188/600, NorthernSweden)
C=0.178 (95/534, MGP)
C=0.150 (80/534, SGDP_PRJ)
C=0.306 (93/304, FINRISK)
C=0.199 (43/216, Qatari)
C=0.22 (12/54, Siberian)
C=0.23 (9/40, GENOME_DK)

Clinical Significance: Reported in ClinVar
Gene : Consequence: DSG4 : Missense Variant
DSG1-AS1 : 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: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	189342	C=0.223812	T=0.776188
European	Sub	154972	C=0.232029	T=0.767971
African	Sub	12096	C=0.19031	T=0.80969
African Others	Sub	432	C=0.174	T=0.826
African American	Sub	11664	C=0.19093	T=0.80907
Asian	Sub	686	C=0.067	T=0.933
East Asian	Sub	524	C=0.055	T=0.945
Other Asian	Sub	162	C=0.105	T=0.895
Latin American 1	Sub	1104	C=0.1848	T=0.8152
Latin American 2	Sub	6346	C=0.1084	T=0.8916
South Asian	Sub	184	C=0.326	T=0.674
Other	Sub	13954	C=0.22352	T=0.77648

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	C=0.198281	T=0.801719
gnomAD - Exomes	Global	Study-wide	251066	C=0.219038	T=0.780962
gnomAD - Exomes	European	Sub	135062	C=0.251099	T=0.748901
gnomAD - Exomes	Asian	Sub	48990	C=0.21976	T=0.78024
gnomAD - Exomes	American	Sub	34568	C=0.09873	T=0.90127
gnomAD - Exomes	African	Sub	16252	C=0.19038	T=0.80962
gnomAD - Exomes	Ashkenazi Jewish	Sub	10072	C=0.24712	T=0.75288
gnomAD - Exomes	Other	Sub	6122	C=0.2151	T=0.7849
Allele Frequency Aggregator	Total	Global	173630	C=0.223873	T=0.776127
Allele Frequency Aggregator	European	Sub	145462	C=0.231270	T=0.768730
Allele Frequency Aggregator	Other	Sub	12550	C=0.22335	T=0.77665
Allele Frequency Aggregator	African	Sub	7298	C=0.1958	T=0.8042
Allele Frequency Aggregator	Latin American 2	Sub	6346	C=0.1084	T=0.8916
Allele Frequency Aggregator	Latin American 1	Sub	1104	C=0.1848	T=0.8152
Allele Frequency Aggregator	Asian	Sub	686	C=0.067	T=0.933
Allele Frequency Aggregator	South Asian	Sub	184	C=0.326	T=0.674
gnomAD - Genomes	Global	Study-wide	139956	C=0.212745	T=0.787255
gnomAD - Genomes	European	Sub	75806	C=0.24547	T=0.75453
gnomAD - Genomes	African	Sub	41964	C=0.18554	T=0.81446
gnomAD - Genomes	American	Sub	13588	C=0.14653	T=0.85347
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	C=0.2428	T=0.7572
gnomAD - Genomes	East Asian	Sub	3132	C=0.0514	T=0.9486
gnomAD - Genomes	Other	Sub	2146	C=0.1971	T=0.8029
ExAC	Global	Study-wide	121326	C=0.225731	T=0.774269
ExAC	Europe	Sub	73304	C=0.25085	T=0.74915
ExAC	Asian	Sub	25154	C=0.22804	T=0.77196
ExAC	American	Sub	11556	C=0.09121	T=0.90879
ExAC	African	Sub	10404	C=0.19223	T=0.80777
ExAC	Other	Sub	908	C=0.230	T=0.770
14KJPN	JAPANESE	Study-wide	28258	C=0.02431	T=0.97569
8.3KJPN	JAPANESE	Study-wide	16760	C=0.02357	T=0.97643
GO Exome Sequencing Project	Global	Study-wide	13004	C=0.22124	T=0.77876
GO Exome Sequencing Project	European American	Sub	8598	C=0.2370	T=0.7630
GO Exome Sequencing Project	African American	Sub	4406	C=0.1904	T=0.8096
1000Genomes_30x	Global	Study-wide	6404	C=0.1918	T=0.8082
1000Genomes_30x	African	Sub	1786	C=0.2004	T=0.7996
1000Genomes_30x	Europe	Sub	1266	C=0.2362	T=0.7638
1000Genomes_30x	South Asian	Sub	1202	C=0.3245	T=0.6755
1000Genomes_30x	East Asian	Sub	1170	C=0.0624	T=0.9376
1000Genomes_30x	American	Sub	980	C=0.110	T=0.890
1000Genomes	Global	Study-wide	5008	C=0.1951	T=0.8049
1000Genomes	African	Sub	1322	C=0.2126	T=0.7874
1000Genomes	East Asian	Sub	1008	C=0.0625	T=0.9375
1000Genomes	Europe	Sub	1006	C=0.2346	T=0.7654
1000Genomes	South Asian	Sub	978	C=0.324	T=0.676
1000Genomes	American	Sub	694	C=0.115	T=0.885
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.2339	T=0.7661
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.2499	T=0.7501
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.2648	T=0.7352
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.0177	G=0.0000, T=0.9823
HapMap	Global	Study-wide	1892	C=0.1586	T=0.8414
HapMap	American	Sub	770	C=0.192	T=0.808
HapMap	African	Sub	692	C=0.166	T=0.834
HapMap	Asian	Sub	254	C=0.028	T=0.972
HapMap	Europe	Sub	176	C=0.170	T=0.830
Korean Genome Project	KOREAN	Study-wide	1832	C=0.0180	T=0.9820
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.214	T=0.786
A Vietnamese Genetic Variation Database	Global	Study-wide	614	C=0.096	T=0.904
Northern Sweden	ACPOP	Study-wide	600	C=0.313	T=0.687
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.178	T=0.822
SGDP_PRJ	Global	Study-wide	534	C=0.150	T=0.850
FINRISK	Finnish from FINRISK project	Study-wide	304	C=0.306	T=0.694
Qatari	Global	Study-wide	216	C=0.199	T=0.801
Siberian	Global	Study-wide	54	C=0.22	T=0.78
The Danish reference pan genome	Danish	Study-wide	40	C=0.23	T=0.78

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 18	NC_000018.10:g.31388996C>G
GRCh38.p14 chr 18	NC_000018.10:g.31388996C>T
GRCh37.p13 chr 18	NC_000018.9:g.28968959C>G
GRCh37.p13 chr 18	NC_000018.9:g.28968959C>T
DSG4 RefSeqGene	NG_013040.1:g.17220C>G
DSG4 RefSeqGene	NG_013040.1:g.17220C>T

Gene: DSG4, desmoglein 4 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
DSG4 transcript variant 2	NM_177986.5:c.495C>G	S [AGC] > R [AGG]	Coding Sequence Variant
desmoglein-4 isoform 2 preproprotein	NP_817123.1:p.Ser165Arg	S (Ser) > R (Arg)	Missense Variant
DSG4 transcript variant 2	NM_177986.5:c.495C>T	S [AGC] > S [AGT]	Coding Sequence Variant
desmoglein-4 isoform 2 preproprotein	NP_817123.1:p.Ser165=	S (Ser) > S (Ser)	Synonymous Variant
DSG4 transcript variant 1	NM_001134453.3:c.495C>G	S [AGC] > R [AGG]	Coding Sequence Variant
desmoglein-4 isoform 1 precursor	NP_001127925.1:p.Ser165Arg	S (Ser) > R (Arg)	Missense Variant
DSG4 transcript variant 1	NM_001134453.3:c.495C>T	S [AGC] > S [AGT]	Coding Sequence Variant
desmoglein-4 isoform 1 precursor	NP_001127925.1:p.Ser165=	S (Ser) > S (Ser)	Synonymous Variant

Gene: DSG1-AS1, DSG1 antisense RNA 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
DSG1-AS1 transcript variant 1	NR_110788.1:n.	N/A	Intron Variant
DSG1-AS1 transcript variant 2	NR_110789.1:n.	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: T (allele ID: 341369 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000398270.3	Hypotrichosis 6	Benign
RCV001690082.4	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	C=	G	T
GRCh38.p14 chr 18	NC_000018.10:g.31388996=	NC_000018.10:g.31388996C>G	NC_000018.10:g.31388996C>T
GRCh37.p13 chr 18	NC_000018.9:g.28968959=	NC_000018.9:g.28968959C>G	NC_000018.9:g.28968959C>T
DSG4 RefSeqGene	NG_013040.1:g.17220=	NG_013040.1:g.17220C>G	NG_013040.1:g.17220C>T
DSG4 transcript variant 2	NM_177986.5:c.495=	NM_177986.5:c.495C>G	NM_177986.5:c.495C>T
DSG4 transcript variant 2	NM_177986.4:c.495=	NM_177986.4:c.495C>G	NM_177986.4:c.495C>T
DSG4 transcript variant 2	NM_177986.3:c.495=	NM_177986.3:c.495C>G	NM_177986.3:c.495C>T
DSG4 transcript variant 1	NM_001134453.3:c.495=	NM_001134453.3:c.495C>G	NM_001134453.3:c.495C>T
DSG4 transcript variant 1	NM_001134453.2:c.495=	NM_001134453.2:c.495C>G	NM_001134453.2:c.495C>T
DSG4 transcript variant 1	NM_001134453.1:c.495=	NM_001134453.1:c.495C>G	NM_001134453.1:c.495C>T
desmoglein-4 isoform 2 preproprotein	NP_817123.1:p.Ser165=	NP_817123.1:p.Ser165Arg	NP_817123.1:p.Ser165=
desmoglein-4 isoform 1 precursor	NP_001127925.1:p.Ser165=	NP_001127925.1:p.Ser165Arg	NP_001127925.1:p.Ser165=

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#.

135 SubSNP, 25 Frequency, 2 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	WI_SSAHASNP	ss13797208	Dec 05, 2003 (119)
2	PERLEGEN	ss23766797	Sep 20, 2004 (123)
3	ABI	ss44143536	Mar 15, 2006 (126)
4	ILLUMINA	ss75165141	Dec 06, 2007 (129)
5	HGSV	ss77376191	Dec 06, 2007 (129)
6	CORNELL	ss86259495	Mar 23, 2008 (129)
7	HUMANGENOME_JCVI	ss96332725	Feb 05, 2009 (130)
8	BGI	ss106537244	Feb 05, 2009 (130)
9	1000GENOMES	ss110318358	Jan 24, 2009 (130)
10	1000GENOMES	ss114214991	Jan 25, 2009 (130)
11	ILLUMINA-UK	ss117826936	Feb 14, 2009 (130)
12	KRIBB_YJKIM	ss119608387	Dec 01, 2009 (131)
13	ENSEMBL	ss136447595	Dec 01, 2009 (131)
14	GMI	ss155002622	Dec 01, 2009 (131)
15	SEATTLESEQ	ss159737130	Dec 01, 2009 (131)
16	ILLUMINA	ss161028440	Dec 01, 2009 (131)
17	COMPLETE_GENOMICS	ss168002413	Jul 04, 2010 (132)
18	COMPLETE_GENOMICS	ss169427065	Jul 04, 2010 (132)
19	COMPLETE_GENOMICS	ss171658051	Jul 04, 2010 (132)
20	ILLUMINA	ss174936568	Jul 04, 2010 (132)
21	BUSHMAN	ss203113398	Jul 04, 2010 (132)
22	BCM-HGSC-SUB	ss208081669	Jul 04, 2010 (132)
23	1000GENOMES	ss227798563	Jul 14, 2010 (132)
24	1000GENOMES	ss237421696	Jul 15, 2010 (132)
25	1000GENOMES	ss243681898	Jul 15, 2010 (132)
26	BL	ss255571905	May 09, 2011 (134)
27	GMI	ss282949353	May 04, 2012 (137)
28	GMI	ss287264348	Apr 25, 2013 (138)
29	PJP	ss292150294	May 09, 2011 (134)
30	NHLBI-ESP	ss342473086	May 09, 2011 (134)
31	ILLUMINA	ss482029609	May 04, 2012 (137)
32	ILLUMINA	ss482064002	May 04, 2012 (137)
33	ILLUMINA	ss483013359	Sep 08, 2015 (146)
34	ILLUMINA	ss485808294	May 04, 2012 (137)
35	1000GENOMES	ss491138392	May 04, 2012 (137)
36	CLINSEQ_SNP	ss491749061	May 04, 2012 (137)
37	ILLUMINA	ss537647935	Sep 08, 2015 (146)
38	TISHKOFF	ss565572789	Apr 25, 2013 (138)
39	SSMP	ss661400901	Apr 25, 2013 (138)
40	ILLUMINA	ss778652870	Sep 08, 2015 (146)
41	ILLUMINA	ss783350003	Sep 08, 2015 (146)
42	ILLUMINA	ss784301205	Sep 08, 2015 (146)
43	ILLUMINA	ss832612024	Sep 08, 2015 (146)
44	ILLUMINA	ss834110721	Sep 08, 2015 (146)
45	JMKIDD_LAB	ss974501764	Aug 21, 2014 (142)
46	EVA-GONL	ss993606851	Aug 21, 2014 (142)
47	JMKIDD_LAB	ss1067578478	Aug 21, 2014 (142)
48	JMKIDD_LAB	ss1081411003	Aug 21, 2014 (142)
49	1000GENOMES	ss1360567618	Aug 21, 2014 (142)
50	DDI	ss1428182920	Apr 01, 2015 (144)
51	EVA_GENOME_DK	ss1578355801	Apr 01, 2015 (144)
52	EVA_FINRISK	ss1584110666	Apr 01, 2015 (144)
53	EVA_UK10K_ALSPAC	ss1636626447	Apr 01, 2015 (144)
54	EVA_UK10K_TWINSUK	ss1679620480	Apr 01, 2015 (144)
55	EVA_EXAC	ss1693116887	Apr 01, 2015 (144)
56	EVA_DECODE	ss1697661076	Apr 01, 2015 (144)
57	EVA_MGP	ss1711483812	Apr 01, 2015 (144)
58	EVA_SVP	ss1713617356	Apr 01, 2015 (144)
59	ILLUMINA	ss1752252085	Sep 08, 2015 (146)
60	HAMMER_LAB	ss1809002101	Sep 08, 2015 (146)
61	WEILL_CORNELL_DGM	ss1937081739	Feb 12, 2016 (147)
62	GENOMED	ss1968497067	Jul 19, 2016 (147)
63	JJLAB	ss2029309964	Sep 14, 2016 (149)
64	USC_VALOUEV	ss2157812315	Dec 20, 2016 (150)
65	HUMAN_LONGEVITY	ss2220606503	Dec 20, 2016 (150)
66	SYSTEMSBIOZJU	ss2629153788	Nov 08, 2017 (151)
67	ILLUMINA	ss2633459524	Nov 08, 2017 (151)
68	GRF	ss2702396936	Nov 08, 2017 (151)
69	GNOMAD	ss2743244695	Nov 08, 2017 (151)
70	GNOMAD	ss2749942234	Nov 08, 2017 (151)
71	GNOMAD	ss2955385845	Nov 08, 2017 (151)
72	SWEGEN	ss3016347579	Nov 08, 2017 (151)
73	BIOINF_KMB_FNS_UNIBA	ss3028481781	Nov 08, 2017 (151)
74	CSHL	ss3351972713	Nov 08, 2017 (151)
75	ILLUMINA	ss3627783798	Oct 12, 2018 (152)
76	ILLUMINA	ss3631436735	Oct 12, 2018 (152)
77	ILLUMINA	ss3633158683	Oct 12, 2018 (152)
78	ILLUMINA	ss3633867320	Oct 12, 2018 (152)
79	ILLUMINA	ss3634701293	Oct 12, 2018 (152)
80	ILLUMINA	ss3635554686	Oct 12, 2018 (152)
81	ILLUMINA	ss3636390349	Oct 12, 2018 (152)
82	ILLUMINA	ss3637306284	Oct 12, 2018 (152)
83	ILLUMINA	ss3638189903	Oct 12, 2018 (152)
84	ILLUMINA	ss3640408601	Oct 12, 2018 (152)
85	ILLUMINA	ss3643166114	Oct 12, 2018 (152)
86	OMUKHERJEE_ADBS	ss3646522507	Oct 12, 2018 (152)
87	URBANLAB	ss3650768930	Oct 12, 2018 (152)
88	EGCUT_WGS	ss3683176366	Jul 13, 2019 (153)
89	EVA_DECODE	ss3701440293	Jul 13, 2019 (153)
90	ACPOP	ss3742446598	Jul 13, 2019 (153)
91	ILLUMINA	ss3745001454	Jul 13, 2019 (153)
92	EVA	ss3755249002	Jul 13, 2019 (153)
93	ILLUMINA	ss3772498976	Jul 13, 2019 (153)
94	PACBIO	ss3788342772	Jul 13, 2019 (153)
95	PACBIO	ss3793278423	Jul 13, 2019 (153)
96	PACBIO	ss3798164727	Jul 13, 2019 (153)
97	KHV_HUMAN_GENOMES	ss3820517691	Jul 13, 2019 (153)
98	EVA	ss3825185703	Apr 27, 2020 (154)
99	EVA	ss3835114695	Apr 27, 2020 (154)
100	EVA	ss3841174195	Apr 27, 2020 (154)
101	EVA	ss3846675786	Apr 27, 2020 (154)
102	SGDP_PRJ	ss3886788174	Apr 27, 2020 (154)
103	KRGDB	ss3936635417	Apr 27, 2020 (154)
104	KOGIC	ss3979937888	Apr 27, 2020 (154)
105	FSA-LAB	ss3984131463	Apr 27, 2021 (155)
106	EVA	ss3986077288	Apr 27, 2021 (155)
107	EVA	ss3986755798	Apr 27, 2021 (155)
108	EVA	ss4017792265	Apr 27, 2021 (155)
109	TOPMED	ss5052571796	Apr 27, 2021 (155)
110	TOMMO_GENOMICS	ss5224665934	Apr 27, 2021 (155)
111	EVA	ss5236950077	Apr 27, 2021 (155)
112	EVA	ss5237242737	Apr 27, 2021 (155)
113	EVA	ss5237670579	Oct 16, 2022 (156)
114	1000G_HIGH_COVERAGE	ss5304900290	Oct 16, 2022 (156)
115	TRAN_CS_UWATERLOO	ss5314450395	Oct 16, 2022 (156)
116	EVA	ss5315925283	Oct 16, 2022 (156)
117	EVA	ss5430683764	Oct 16, 2022 (156)
118	HUGCELL_USP	ss5497709894	Oct 16, 2022 (156)
119	1000G_HIGH_COVERAGE	ss5609521610	Oct 16, 2022 (156)
120	EVA	ss5623974005	Oct 16, 2022 (156)
121	EVA	ss5624079759	Oct 16, 2022 (156)
122	SANFORD_IMAGENETICS	ss5661074761	Oct 16, 2022 (156)
123	TOMMO_GENOMICS	ss5782312373	Oct 16, 2022 (156)
124	EVA	ss5799990187	Oct 16, 2022 (156)
125	EVA	ss5800072010	Oct 16, 2022 (156)
126	EVA	ss5800214470	Oct 16, 2022 (156)
127	YY_MCH	ss5817002066	Oct 16, 2022 (156)
128	EVA	ss5827390110	Oct 16, 2022 (156)
129	EVA	ss5848466984	Oct 16, 2022 (156)
130	EVA	ss5852007636	Oct 16, 2022 (156)
131	EVA	ss5873620762	Oct 16, 2022 (156)
132	EVA	ss5936570262	Oct 16, 2022 (156)
133	EVA	ss5952473023	Oct 16, 2022 (156)
134	EVA	ss5981002078	Oct 16, 2022 (156)
135	EVA	ss5981305892	Oct 16, 2022 (156)
136	1000Genomes	NC_000018.9 - 28968959	Oct 12, 2018 (152)
137	1000Genomes_30x	NC_000018.10 - 31388996	Oct 16, 2022 (156)
138	The Avon Longitudinal Study of Parents and Children	NC_000018.9 - 28968959	Oct 12, 2018 (152)
139	Genetic variation in the Estonian population	NC_000018.9 - 28968959	Oct 12, 2018 (152)
140	ExAC	NC_000018.9 - 28968959	Oct 12, 2018 (152)
141	FINRISK	NC_000018.9 - 28968959	Apr 27, 2020 (154)
142	The Danish reference pan genome	NC_000018.9 - 28968959	Apr 27, 2020 (154)
143	gnomAD - Genomes	NC_000018.10 - 31388996	Apr 27, 2021 (155)
144	gnomAD - Exomes	NC_000018.9 - 28968959	Jul 13, 2019 (153)
145	GO Exome Sequencing Project	NC_000018.9 - 28968959	Oct 12, 2018 (152)
146	Genome of the Netherlands Release 5	NC_000018.9 - 28968959	Apr 27, 2020 (154)
147	HapMap	NC_000018.10 - 31388996	Apr 27, 2020 (154)
148	KOREAN population from KRGDB	NC_000018.9 - 28968959	Apr 27, 2020 (154)
149	Korean Genome Project	NC_000018.10 - 31388996	Apr 27, 2020 (154)
150	Medical Genome Project healthy controls from Spanish population	NC_000018.9 - 28968959	Apr 27, 2020 (154)
151	Northern Sweden	NC_000018.9 - 28968959	Jul 13, 2019 (153)
152	Qatari	NC_000018.9 - 28968959	Apr 27, 2020 (154)
153	SGDP_PRJ	NC_000018.9 - 28968959	Apr 27, 2020 (154)
154	Siberian	NC_000018.9 - 28968959	Apr 27, 2020 (154)
155	8.3KJPN	NC_000018.9 - 28968959	Apr 27, 2021 (155)
156	14KJPN	NC_000018.10 - 31388996	Oct 16, 2022 (156)
157	TopMed	NC_000018.10 - 31388996	Apr 27, 2021 (155)
158	UK 10K study - Twins	NC_000018.9 - 28968959	Oct 12, 2018 (152)
159	A Vietnamese Genetic Variation Database	NC_000018.9 - 28968959	Jul 13, 2019 (153)
160	ALFA	NC_000018.10 - 31388996	Apr 27, 2021 (155)
161	ClinVar	RCV000398270.3	Oct 16, 2022 (156)
162	ClinVar	RCV001690082.4	Oct 16, 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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
43812811, ss3936635417	NC_000018.9:28968958:C:G	NC_000018.10:31388995:C:G	(self)
ss77376191, ss110318358, ss114214991, ss117826936, ss168002413, ss169427065, ss171658051, ss203113398, ss208081669, ss255571905, ss282949353, ss287264348, ss292150294, ss482029609, ss491749061, ss1697661076, ss1713617356, ss3643166114	NC_000018.8:27222956:C:T	NC_000018.10:31388995:C:T	(self)
73881293, 40925971, 28914614, 3586022, 107127, 4549797, 12556006, 1642728, 18236755, 43812811, 599572, 15731463, 19123661, 38805154, 10328669, 82635241, 40925971, 9045923, ss227798563, ss237421696, ss243681898, ss342473086, ss482064002, ss483013359, ss485808294, ss491138392, ss537647935, ss565572789, ss661400901, ss778652870, ss783350003, ss784301205, ss832612024, ss834110721, ss974501764, ss993606851, ss1067578478, ss1081411003, ss1360567618, ss1428182920, ss1578355801, ss1584110666, ss1636626447, ss1679620480, ss1693116887, ss1711483812, ss1752252085, ss1809002101, ss1937081739, ss1968497067, ss2029309964, ss2157812315, ss2629153788, ss2633459524, ss2702396936, ss2743244695, ss2749942234, ss2955385845, ss3016347579, ss3351972713, ss3627783798, ss3631436735, ss3633158683, ss3633867320, ss3634701293, ss3635554686, ss3636390349, ss3637306284, ss3638189903, ss3640408601, ss3646522507, ss3683176366, ss3742446598, ss3745001454, ss3755249002, ss3772498976, ss3788342772, ss3793278423, ss3798164727, ss3825185703, ss3835114695, ss3841174195, ss3886788174, ss3936635417, ss3984131463, ss3986077288, ss3986755798, ss4017792265, ss5224665934, ss5315925283, ss5430683764, ss5623974005, ss5624079759, ss5661074761, ss5799990187, ss5800072010, ss5800214470, ss5827390110, ss5848466984, ss5936570262, ss5952473023, ss5981002078, ss5981305892	NC_000018.9:28968958:C:T	NC_000018.10:31388995:C:T	(self)
RCV000398270.3, RCV001690082.4, 97047545, 521194778, 1577384, 36315889, 116149477, 268117459, 8613870342, ss2220606503, ss3028481781, ss3650768930, ss3701440293, ss3820517691, ss3846675786, ss3979937888, ss5052571796, ss5236950077, ss5237242737, ss5237670579, ss5304900290, ss5314450395, ss5497709894, ss5609521610, ss5782312373, ss5817002066, ss5852007636, ss5873620762	NC_000018.10:31388995:C:T	NC_000018.10:31388995:C:T	(self)
ss13797208	NT_010966.13:10458060:C:T	NC_000018.10:31388995:C:T	(self)
ss23766797, ss44143536, ss75165141, ss86259495, ss96332725, ss106537244, ss119608387, ss136447595, ss155002622, ss159737130, ss161028440, ss174936568	NT_010966.14:10458060:C:T	NC_000018.10:31388995:C: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 rs9956865

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
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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.
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

rs9956865