Name: rs6044680
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.

rs6044680

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr20:17205717 (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: T>A / T>C
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.369758 (109075/294990, ALFA)
T=0.346016 (91587/264690, TOPMED)
T=0.347830 (48653/139876, GnomAD) (+ 22 more)
T=0.32079 (25234/78662, PAGE_STUDY)
T=0.17351 (4903/28258, 14KJPN)
T=0.17327 (2904/16760, 8.3KJPN)
T=0.2753 (1763/6404, 1000G_30x)
T=0.2664 (1334/5008, 1000G)
T=0.3786 (1696/4480, Estonian)
T=0.3765 (1451/3854, ALSPAC)
T=0.3838 (1423/3708, TWINSUK)
T=0.1785 (523/2930, KOREAN)
T=0.3325 (693/2084, HGDP_Stanford)
T=0.2686 (505/1880, HapMap)
T=0.1599 (293/1832, Korea1K)
T=0.3257 (370/1136, Daghestan)
T=0.353 (352/998, GoNL)
T=0.152 (120/792, PRJEB37584)
T=0.408 (245/600, NorthernSweden)
T=0.183 (91/496, SGDP_PRJ)
T=0.347 (75/216, Qatari)
T=0.061 (13/214, Vietnamese)
T=0.34 (22/64, Ancient Sardinia)
T=0.24 (10/42, Siberian)
T=0.40 (16/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: None
Publications: 1 citation
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	294990	T=0.369758	C=0.630242
European	Sub	260764	T=0.376352	C=0.623648
African	Sub	7954	T=0.2704	C=0.7296
African Others	Sub	318	T=0.233	C=0.767
African American	Sub	7636	T=0.2720	C=0.7280
Asian	Sub	3904	T=0.1447	C=0.8553
East Asian	Sub	3158	T=0.1529	C=0.8471
Other Asian	Sub	746	T=0.110	C=0.890
Latin American 1	Sub	1132	T=0.3719	C=0.6281
Latin American 2	Sub	7224	T=0.5155	C=0.4845
South Asian	Sub	5220	T=0.2165	C=0.7835
Other	Sub	8792	T=0.3350	C=0.6650

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
Allele Frequency Aggregator	Total	Global	294990	T=0.369758	C=0.630242
Allele Frequency Aggregator	European	Sub	260764	T=0.376352	C=0.623648
Allele Frequency Aggregator	Other	Sub	8792	T=0.3350	C=0.6650
Allele Frequency Aggregator	African	Sub	7954	T=0.2704	C=0.7296
Allele Frequency Aggregator	Latin American 2	Sub	7224	T=0.5155	C=0.4845
Allele Frequency Aggregator	South Asian	Sub	5220	T=0.2165	C=0.7835
Allele Frequency Aggregator	Asian	Sub	3904	T=0.1447	C=0.8553
Allele Frequency Aggregator	Latin American 1	Sub	1132	T=0.3719	C=0.6281
TopMed	Global	Study-wide	264690	T=0.346016	C=0.653984
gnomAD - Genomes	Global	Study-wide	139876	T=0.347830	C=0.652170
gnomAD - Genomes	European	Sub	75760	T=0.38095	C=0.61905
gnomAD - Genomes	African	Sub	41918	T=0.26461	C=0.73539
gnomAD - Genomes	American	Sub	13624	T=0.46866	C=0.53134
gnomAD - Genomes	Ashkenazi Jewish	Sub	3316	T=0.3456	C=0.6544
gnomAD - Genomes	East Asian	Sub	3110	T=0.1270	C=0.8730
gnomAD - Genomes	Other	Sub	2148	T=0.3603	C=0.6397
The PAGE Study	Global	Study-wide	78662	T=0.32079	C=0.67921
The PAGE Study	AfricanAmerican	Sub	32508	T=0.26455	C=0.73545
The PAGE Study	Mexican	Sub	10806	T=0.52415	C=0.47585
The PAGE Study	Asian	Sub	8312	T=0.1565	C=0.8435
The PAGE Study	PuertoRican	Sub	7912	T=0.3926	C=0.6074
The PAGE Study	NativeHawaiian	Sub	4526	T=0.1666	C=0.8334
The PAGE Study	Cuban	Sub	4226	T=0.3992	C=0.6008
The PAGE Study	Dominican	Sub	3828	T=0.3320	C=0.6680
The PAGE Study	CentralAmerican	Sub	2450	T=0.5008	C=0.4992
The PAGE Study	SouthAmerican	Sub	1980	T=0.4843	C=0.5157
The PAGE Study	NativeAmerican	Sub	1258	T=0.3800	C=0.6200
The PAGE Study	SouthAsian	Sub	856	T=0.218	C=0.782
14KJPN	JAPANESE	Study-wide	28258	T=0.17351	C=0.82649
8.3KJPN	JAPANESE	Study-wide	16760	T=0.17327	C=0.82673
1000Genomes_30x	Global	Study-wide	6404	T=0.2753	C=0.7247
1000Genomes_30x	African	Sub	1786	T=0.2492	C=0.7508
1000Genomes_30x	Europe	Sub	1266	T=0.3760	C=0.6240
1000Genomes_30x	South Asian	Sub	1202	T=0.1722	C=0.8278
1000Genomes_30x	East Asian	Sub	1170	T=0.1171	C=0.8829
1000Genomes_30x	American	Sub	980	T=0.508	C=0.492
1000Genomes	Global	Study-wide	5008	T=0.2664	C=0.7336
1000Genomes	African	Sub	1322	T=0.2451	C=0.7549
1000Genomes	East Asian	Sub	1008	T=0.1200	C=0.8800
1000Genomes	Europe	Sub	1006	T=0.3748	C=0.6252
1000Genomes	South Asian	Sub	978	T=0.168	C=0.832
1000Genomes	American	Sub	694	T=0.501	C=0.499
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.3786	C=0.6214
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.3765	C=0.6235
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.3838	C=0.6162
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.1785	A=0.0000, C=0.8215
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	T=0.3325	C=0.6675
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	T=0.179	C=0.821
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	T=0.266	C=0.734
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	T=0.366	C=0.634
HGDP-CEPH-db Supplement 1	Europe	Sub	320	T=0.394	C=0.606
HGDP-CEPH-db Supplement 1	Africa	Sub	242	T=0.194	C=0.806
HGDP-CEPH-db Supplement 1	America	Sub	216	T=0.843	C=0.157
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	T=0.22	C=0.78
HapMap	Global	Study-wide	1880	T=0.2686	C=0.7314
HapMap	American	Sub	762	T=0.294	C=0.706
HapMap	African	Sub	688	T=0.282	C=0.718
HapMap	Asian	Sub	254	T=0.118	C=0.882
HapMap	Europe	Sub	176	T=0.324	C=0.676
Korean Genome Project	KOREAN	Study-wide	1832	T=0.1599	C=0.8401
Genome-wide autozygosity in Daghestan	Global	Study-wide	1136	T=0.3257	C=0.6743
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	T=0.328	C=0.672
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	T=0.333	C=0.667
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	T=0.328	C=0.672
Genome-wide autozygosity in Daghestan	Europe	Sub	108	T=0.407	C=0.593
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	T=0.21	C=0.79
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	T=0.31	C=0.69
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.353	C=0.647
CNV burdens in cranial meningiomas	Global	Study-wide	792	T=0.152	C=0.848
CNV burdens in cranial meningiomas	CRM	Sub	792	T=0.152	C=0.848
Northern Sweden	ACPOP	Study-wide	600	T=0.408	C=0.592
SGDP_PRJ	Global	Study-wide	496	T=0.183	C=0.817
Qatari	Global	Study-wide	216	T=0.347	C=0.653
A Vietnamese Genetic Variation Database	Global	Study-wide	214	T=0.061	C=0.939
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	64	T=0.34	C=0.66
Siberian	Global	Study-wide	42	T=0.24	C=0.76
The Danish reference pan genome	Danish	Study-wide	40	T=0.40	C=0.60

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 20	NC_000020.11:g.17205717T>A
GRCh38.p14 chr 20	NC_000020.11:g.17205717T>C
GRCh37.p13 chr 20	NC_000020.10:g.17186362T>A
GRCh37.p13 chr 20	NC_000020.10:g.17186362T>C

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	T=	A	C
GRCh38.p14 chr 20	NC_000020.11:g.17205717=	NC_000020.11:g.17205717T>A	NC_000020.11:g.17205717T>C
GRCh37.p13 chr 20	NC_000020.10:g.17186362=	NC_000020.10:g.17186362T>A	NC_000020.10:g.17186362T>C

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#.

138 SubSNP, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss8354942	Apr 21, 2003 (114)
2	SSAHASNP	ss21795149	Apr 05, 2004 (121)
3	PERLEGEN	ss24594372	Sep 20, 2004 (123)
4	ILLUMINA	ss66845597	Nov 30, 2006 (127)
5	ILLUMINA	ss67437604	Nov 30, 2006 (127)
6	ILLUMINA	ss67791750	Nov 30, 2006 (127)
7	CSHL-HAPMAP	ss68425211	Jan 12, 2007 (127)
8	ILLUMINA	ss70855816	May 26, 2008 (130)
9	ILLUMINA	ss71442206	May 17, 2007 (127)
10	ILLUMINA	ss75897415	Dec 07, 2007 (129)
11	HGSV	ss78400339	Dec 07, 2007 (129)
12	ILLUMINA	ss79215131	Dec 16, 2007 (130)
13	KRIBB_YJKIM	ss84453516	Dec 16, 2007 (130)
14	HGSV	ss85625447	Dec 16, 2007 (130)
15	BCMHGSC_JDW	ss91655294	Mar 24, 2008 (129)
16	HUMANGENOME_JCVI	ss96188382	Feb 06, 2009 (130)
17	BGI	ss106181461	Feb 06, 2009 (130)
18	1000GENOMES	ss111806546	Jan 25, 2009 (130)
19	1000GENOMES	ss113152784	Jan 25, 2009 (130)
20	ILLUMINA-UK	ss117501447	Feb 14, 2009 (130)
21	ILLUMINA	ss122506374	Dec 01, 2009 (131)
22	ENSEMBL	ss135753739	Dec 01, 2009 (131)
23	ENSEMBL	ss138218347	Dec 01, 2009 (131)
24	ILLUMINA	ss154350500	Dec 01, 2009 (131)
25	GMI	ss156227601	Dec 01, 2009 (131)
26	ILLUMINA	ss159526815	Dec 01, 2009 (131)
27	ILLUMINA	ss160760323	Dec 01, 2009 (131)
28	COMPLETE_GENOMICS	ss167912238	Jul 04, 2010 (132)
29	COMPLETE_GENOMICS	ss169227107	Jul 04, 2010 (132)
30	ILLUMINA	ss172088040	Jul 04, 2010 (132)
31	ILLUMINA	ss173969150	Jul 04, 2010 (132)
32	BUSHMAN	ss203846748	Jul 04, 2010 (132)
33	BCM-HGSC-SUB	ss208677759	Jul 04, 2010 (132)
34	1000GENOMES	ss228284897	Jul 14, 2010 (132)
35	1000GENOMES	ss237784815	Jul 15, 2010 (132)
36	1000GENOMES	ss243966026	Jul 15, 2010 (132)
37	BL	ss255514710	May 09, 2011 (134)
38	GMI	ss283320079	May 04, 2012 (137)
39	GMI	ss287432123	Apr 25, 2013 (138)
40	PJP	ss292622529	May 09, 2011 (134)
41	ILLUMINA	ss481200419	May 04, 2012 (137)
42	ILLUMINA	ss481223508	May 04, 2012 (137)
43	ILLUMINA	ss482210694	Sep 08, 2015 (146)
44	ILLUMINA	ss485395446	May 04, 2012 (137)
45	ILLUMINA	ss537333364	Sep 08, 2015 (146)
46	TISHKOFF	ss566167871	Apr 25, 2013 (138)
47	ILLUMINA	ss778563607	Sep 08, 2015 (146)
48	ILLUMINA	ss783143241	Sep 08, 2015 (146)
49	ILLUMINA	ss784099399	Sep 08, 2015 (146)
50	ILLUMINA	ss825545649	Apr 01, 2015 (144)
51	ILLUMINA	ss832402339	Sep 08, 2015 (146)
52	ILLUMINA	ss833038074	Jul 13, 2019 (153)
53	ILLUMINA	ss834020547	Sep 08, 2015 (146)
54	EVA-GONL	ss994593532	Aug 21, 2014 (142)
55	JMKIDD_LAB	ss1082114272	Aug 21, 2014 (142)
56	1000GENOMES	ss1364260503	Aug 21, 2014 (142)
57	HAMMER_LAB	ss1397766075	Sep 08, 2015 (146)
58	DDI	ss1429012756	Apr 01, 2015 (144)
59	EVA_GENOME_DK	ss1579459468	Apr 01, 2015 (144)
60	EVA_UK10K_ALSPAC	ss1638520002	Apr 01, 2015 (144)
61	EVA_UK10K_TWINSUK	ss1681514035	Apr 01, 2015 (144)
62	EVA_DECODE	ss1698651095	Apr 01, 2015 (144)
63	EVA_SVP	ss1713684588	Apr 01, 2015 (144)
64	ILLUMINA	ss1752378332	Sep 08, 2015 (146)
65	HAMMER_LAB	ss1809444932	Sep 08, 2015 (146)
66	WEILL_CORNELL_DGM	ss1938101767	Feb 12, 2016 (147)
67	ILLUMINA	ss1946548254	Feb 12, 2016 (147)
68	ILLUMINA	ss1959902477	Feb 12, 2016 (147)
69	GENOMED	ss1969104617	Jul 19, 2016 (147)
70	JJLAB	ss2029833481	Sep 14, 2016 (149)
71	ILLUMINA	ss2095113666	Dec 20, 2016 (150)
72	USC_VALOUEV	ss2158386997	Dec 20, 2016 (150)
73	HUMAN_LONGEVITY	ss2241736164	Dec 20, 2016 (150)
74	ILLUMINA	ss2633783653	Nov 08, 2017 (151)
75	GRF	ss2704061531	Nov 08, 2017 (151)
76	ILLUMINA	ss2710936534	Nov 08, 2017 (151)
77	GNOMAD	ss2965980959	Nov 08, 2017 (151)
78	SWEGEN	ss3017947399	Nov 08, 2017 (151)
79	BIOINF_KMB_FNS_UNIBA	ss3028750534	Nov 08, 2017 (151)
80	CSHL	ss3352444068	Nov 08, 2017 (151)
81	ILLUMINA	ss3625785489	Oct 12, 2018 (152)
82	ILLUMINA	ss3628362583	Oct 12, 2018 (152)
83	ILLUMINA	ss3631741150	Oct 12, 2018 (152)
84	ILLUMINA	ss3633246760	Oct 12, 2018 (152)
85	ILLUMINA	ss3633960629	Oct 12, 2018 (152)
86	ILLUMINA	ss3634829218	Oct 12, 2018 (152)
87	ILLUMINA	ss3635645794	Oct 12, 2018 (152)
88	ILLUMINA	ss3636519966	Oct 12, 2018 (152)
89	ILLUMINA	ss3637397866	Oct 12, 2018 (152)
90	ILLUMINA	ss3638338125	Oct 12, 2018 (152)
91	ILLUMINA	ss3639173102	Oct 12, 2018 (152)
92	ILLUMINA	ss3639600756	Oct 12, 2018 (152)
93	ILLUMINA	ss3640536516	Oct 12, 2018 (152)
94	ILLUMINA	ss3641126014	Oct 12, 2018 (152)
95	ILLUMINA	ss3641422211	Oct 12, 2018 (152)
96	ILLUMINA	ss3643301437	Oct 12, 2018 (152)
97	ILLUMINA	ss3644778625	Oct 12, 2018 (152)
98	URBANLAB	ss3650982710	Oct 12, 2018 (152)
99	ILLUMINA	ss3652559956	Oct 12, 2018 (152)
100	EGCUT_WGS	ss3684668858	Jul 13, 2019 (153)
101	EVA_DECODE	ss3706656822	Jul 13, 2019 (153)
102	ACPOP	ss3743293786	Jul 13, 2019 (153)
103	ILLUMINA	ss3744195890	Jul 13, 2019 (153)
104	ILLUMINA	ss3745129117	Jul 13, 2019 (153)
105	EVA	ss3758485211	Jul 13, 2019 (153)
106	PAGE_CC	ss3772039555	Jul 13, 2019 (153)
107	ILLUMINA	ss3772625374	Jul 13, 2019 (153)
108	PACBIO	ss3788612804	Jul 13, 2019 (153)
109	PACBIO	ss3793511126	Jul 13, 2019 (153)
110	PACBIO	ss3798398298	Jul 13, 2019 (153)
111	KHV_HUMAN_GENOMES	ss3821656223	Jul 13, 2019 (153)
112	EVA	ss3835614752	Apr 27, 2020 (154)
113	EVA	ss3841433460	Apr 27, 2020 (154)
114	EVA	ss3846941446	Apr 27, 2020 (154)
115	HGDP	ss3847663222	Apr 27, 2020 (154)
116	SGDP_PRJ	ss3888834818	Apr 27, 2020 (154)
117	KRGDB	ss3939033196	Apr 27, 2020 (154)
118	KOGIC	ss3981913287	Apr 27, 2020 (154)
119	EVA	ss3984747956	Apr 26, 2021 (155)
120	EVA	ss3985871520	Apr 26, 2021 (155)
121	EVA	ss4017841037	Apr 26, 2021 (155)
122	TOPMED	ss5083987539	Apr 26, 2021 (155)
123	TOMMO_GENOMICS	ss5229057852	Apr 26, 2021 (155)
124	1000G_HIGH_COVERAGE	ss5308254624	Oct 13, 2022 (156)
125	EVA	ss5315999203	Oct 13, 2022 (156)
126	EVA	ss5436576665	Oct 13, 2022 (156)
127	HUGCELL_USP	ss5500640985	Oct 13, 2022 (156)
128	EVA	ss5512172644	Oct 13, 2022 (156)
129	1000G_HIGH_COVERAGE	ss5614425183	Oct 13, 2022 (156)
130	SANFORD_IMAGENETICS	ss5662963087	Oct 13, 2022 (156)
131	TOMMO_GENOMICS	ss5788105326	Oct 13, 2022 (156)
132	EVA	ss5800018346	Oct 13, 2022 (156)
133	YY_MCH	ss5817859798	Oct 13, 2022 (156)
134	EVA	ss5845514181	Oct 13, 2022 (156)
135	EVA	ss5847915981	Oct 13, 2022 (156)
136	EVA	ss5853090942	Oct 13, 2022 (156)
137	EVA	ss5922873187	Oct 13, 2022 (156)
138	EVA	ss5957872572	Oct 13, 2022 (156)
139	1000Genomes	NC_000020.10 - 17186362	Oct 12, 2018 (152)
140	1000Genomes_30x	NC_000020.11 - 17205717	Oct 13, 2022 (156)
141	The Avon Longitudinal Study of Parents and Children	NC_000020.10 - 17186362	Oct 12, 2018 (152)
142	Genome-wide autozygosity in Daghestan	NC_000020.9 - 17134362	Apr 27, 2020 (154)
143	Genetic variation in the Estonian population	NC_000020.10 - 17186362	Oct 12, 2018 (152)
144	The Danish reference pan genome	NC_000020.10 - 17186362	Apr 27, 2020 (154)
145	gnomAD - Genomes	NC_000020.11 - 17205717	Apr 26, 2021 (155)
146	Genome of the Netherlands Release 5	NC_000020.10 - 17186362	Apr 27, 2020 (154)
147	HGDP-CEPH-db Supplement 1	NC_000020.9 - 17134362	Apr 27, 2020 (154)
148	HapMap	NC_000020.11 - 17205717	Apr 27, 2020 (154)
149	KOREAN population from KRGDB	NC_000020.10 - 17186362	Apr 27, 2020 (154)
150	Korean Genome Project	NC_000020.11 - 17205717	Apr 27, 2020 (154)
151	Northern Sweden	NC_000020.10 - 17186362	Jul 13, 2019 (153)
152	The PAGE Study	NC_000020.11 - 17205717	Jul 13, 2019 (153)
153	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000020.10 - 17186362	Apr 26, 2021 (155)
154	CNV burdens in cranial meningiomas	NC_000020.10 - 17186362	Apr 26, 2021 (155)
155	Qatari	NC_000020.10 - 17186362	Apr 27, 2020 (154)
156	SGDP_PRJ	NC_000020.10 - 17186362	Apr 27, 2020 (154)
157	Siberian	NC_000020.10 - 17186362	Apr 27, 2020 (154)
158	8.3KJPN	NC_000020.10 - 17186362	Apr 26, 2021 (155)
159	14KJPN	NC_000020.11 - 17205717	Oct 13, 2022 (156)
160	TopMed	NC_000020.11 - 17205717	Apr 26, 2021 (155)
161	UK 10K study - Twins	NC_000020.10 - 17186362	Oct 12, 2018 (152)
162	A Vietnamese Genetic Variation Database	NC_000020.10 - 17186362	Jul 13, 2019 (153)
163	ALFA	NC_000020.11 - 17205717	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)
rs17774805	Oct 07, 2004 (123)
rs61197122	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
46210590, ss3939033196	NC_000020.10:17186361:T:A	NC_000020.11:17205716:T:A	(self)
280223, 341114, ss78400339, ss85625447, ss91655294, ss111806546, ss113152784, ss117501447, ss167912238, ss169227107, ss203846748, ss208677759, ss255514710, ss283320079, ss287432123, ss292622529, ss481200419, ss825545649, ss1397766075, ss1698651095, ss1713684588, ss3639173102, ss3639600756, ss3643301437, ss3847663222	NC_000020.9:17134361:T:C	NC_000020.11:17205716:T:C	(self)
77706942, 43023017, 30407106, 5624407, 19170794, 46210590, 16578651, 1097447, 297523, 20143689, 40851798, 10903351, 87027159, 43023017, 9499890, ss228284897, ss237784815, ss243966026, ss481223508, ss482210694, ss485395446, ss537333364, ss566167871, ss778563607, ss783143241, ss784099399, ss832402339, ss833038074, ss834020547, ss994593532, ss1082114272, ss1364260503, ss1429012756, ss1579459468, ss1638520002, ss1681514035, ss1752378332, ss1809444932, ss1938101767, ss1946548254, ss1959902477, ss1969104617, ss2029833481, ss2095113666, ss2158386997, ss2633783653, ss2704061531, ss2710936534, ss2965980959, ss3017947399, ss3352444068, ss3625785489, ss3628362583, ss3631741150, ss3633246760, ss3633960629, ss3634829218, ss3635645794, ss3636519966, ss3637397866, ss3638338125, ss3640536516, ss3641126014, ss3641422211, ss3644778625, ss3652559956, ss3684668858, ss3743293786, ss3744195890, ss3745129117, ss3758485211, ss3772625374, ss3788612804, ss3793511126, ss3798398298, ss3835614752, ss3841433460, ss3888834818, ss3939033196, ss3984747956, ss3985871520, ss4017841037, ss5229057852, ss5315999203, ss5436576665, ss5512172644, ss5662963087, ss5800018346, ss5845514181, ss5847915981, ss5957872572	NC_000020.10:17186361:T:C	NC_000020.11:17205716:T:C	(self)
101951118, 547882544, 2087251, 38291288, 1261024, 121942430, 359096484, 12577933844, ss2241736164, ss3028750534, ss3650982710, ss3706656822, ss3772039555, ss3821656223, ss3846941446, ss3981913287, ss5083987539, ss5308254624, ss5500640985, ss5614425183, ss5788105326, ss5817859798, ss5853090942, ss5922873187	NC_000020.11:17205716:T:C	NC_000020.11:17205716:T:C	(self)
ss8354942, ss21795149, ss24594372, ss66845597, ss67437604, ss67791750, ss68425211, ss70855816, ss71442206, ss75897415, ss79215131, ss84453516, ss96188382, ss106181461, ss122506374, ss135753739, ss138218347, ss154350500, ss156227601, ss159526815, ss160760323, ss172088040, ss173969150	NT_011387.8:17126361:T:C	NC_000020.11:17205716:T:C	(self)

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

1 citation for rs6044680

PMID	Title	Author	Year	Journal
31647196	Genome-wide association analysis of autism identified multiple loci that have been reported as strong signals for neuropsychiatric disorders.	Xia L et al.	2020	Autism research

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.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs6044680