Name: rs1035050
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.

rs1035050

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:49486650 (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 / T>G
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.417114 (142628/341940, ALFA)
C=0.348487 (92241/264690, TOPMED)
C=0.339884 (47598/140042, GnomAD) (+ 19 more)
C=0.34897 (27464/78700, PAGE_STUDY)
T=0.24007 (6784/28258, 14KJPN)
T=0.23592 (3954/16760, 8.3KJPN)
C=0.4008 (2567/6404, 1000G_30x)
C=0.4093 (2050/5008, 1000G)
C=0.3835 (1718/4480, Estonian)
C=0.4242 (1635/3854, ALSPAC)
C=0.4161 (1543/3708, TWINSUK)
T=0.2355 (690/2930, KOREAN)
C=0.4472 (932/2084, HGDP_Stanford)
C=0.4043 (765/1892, HapMap)
C=0.409 (408/998, GoNL)
T=0.234 (185/790, PRJEB37584)
C=0.373 (224/600, NorthernSweden)
T=0.322 (119/370, SGDP_PRJ)
C=0.417 (90/216, Qatari)
C=0.39 (30/76, Ancient Sardinia)
T=0.32 (14/44, Siberian)
C=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	342156	T=0.582930	C=0.417070
European	Sub	299116	T=0.583088	C=0.416912
African	Sub	10662	T=0.85950	C=0.14050
African Others	Sub	402	T=0.938	C=0.062
African American	Sub	10260	T=0.85643	C=0.14357
Asian	Sub	6878	T=0.2493	C=0.7507
East Asian	Sub	4940	T=0.2269	C=0.7731
Other Asian	Sub	1938	T=0.3065	C=0.6935
Latin American 1	Sub	1074	T=0.6443	C=0.3557
Latin American 2	Sub	3160	T=0.5620	C=0.4380
South Asian	Sub	5218	T=0.5761	C=0.4239
Other	Sub	16048	T=0.54144	C=0.45856

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	341940	T=0.582886	C=0.417114
Allele Frequency Aggregator	European	Sub	298936	T=0.583068	C=0.416932
Allele Frequency Aggregator	Other	Sub	16026	T=0.54118	C=0.45882
Allele Frequency Aggregator	African	Sub	10648	T=0.85932	C=0.14068
Allele Frequency Aggregator	Asian	Sub	6878	T=0.2493	C=0.7507
Allele Frequency Aggregator	South Asian	Sub	5218	T=0.5761	C=0.4239
Allele Frequency Aggregator	Latin American 2	Sub	3160	T=0.5620	C=0.4380
Allele Frequency Aggregator	Latin American 1	Sub	1074	T=0.6443	C=0.3557
TopMed	Global	Study-wide	264690	T=0.651513	C=0.348487
gnomAD - Genomes	Global	Study-wide	140042	T=0.660116	C=0.339884
gnomAD - Genomes	European	Sub	75802	T=0.58965	C=0.41035
gnomAD - Genomes	African	Sub	41998	T=0.86126	C=0.13874
gnomAD - Genomes	American	Sub	13648	T=0.55070	C=0.44930
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	T=0.6240	C=0.3760
gnomAD - Genomes	East Asian	Sub	3122	T=0.2249	C=0.7751
gnomAD - Genomes	Other	Sub	2150	T=0.5977	C=0.4023
The PAGE Study	Global	Study-wide	78700	T=0.65103	C=0.34897
The PAGE Study	AfricanAmerican	Sub	32516	T=0.85493	C=0.14507
The PAGE Study	Mexican	Sub	10810	T=0.54126	C=0.45874
The PAGE Study	Asian	Sub	8316	T=0.2336	C=0.7664
The PAGE Study	PuertoRican	Sub	7918	T=0.6313	C=0.3687
The PAGE Study	NativeHawaiian	Sub	4534	T=0.4025	C=0.5975
The PAGE Study	Cuban	Sub	4230	T=0.6057	C=0.3943
The PAGE Study	Dominican	Sub	3828	T=0.6735	C=0.3265
The PAGE Study	CentralAmerican	Sub	2450	T=0.5682	C=0.4318
The PAGE Study	SouthAmerican	Sub	1982	T=0.5590	C=0.4410
The PAGE Study	NativeAmerican	Sub	1260	T=0.5762	C=0.4238
The PAGE Study	SouthAsian	Sub	856	T=0.529	C=0.471
14KJPN	JAPANESE	Study-wide	28258	T=0.24007	C=0.75993
8.3KJPN	JAPANESE	Study-wide	16760	T=0.23592	C=0.76408
1000Genomes_30x	Global	Study-wide	6404	T=0.5992	C=0.4008
1000Genomes_30x	African	Sub	1786	T=0.9082	C=0.0918
1000Genomes_30x	Europe	Sub	1266	T=0.5845	C=0.4155
1000Genomes_30x	South Asian	Sub	1202	T=0.5092	C=0.4908
1000Genomes_30x	East Asian	Sub	1170	T=0.2538	C=0.7462
1000Genomes_30x	American	Sub	980	T=0.578	C=0.422
1000Genomes	Global	Study-wide	5008	T=0.5907	C=0.4093
1000Genomes	African	Sub	1322	T=0.9054	C=0.0946
1000Genomes	East Asian	Sub	1008	T=0.2569	C=0.7431
1000Genomes	Europe	Sub	1006	T=0.5905	C=0.4095
1000Genomes	South Asian	Sub	978	T=0.512	C=0.488
1000Genomes	American	Sub	694	T=0.586	C=0.414
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.6165	C=0.3835
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.5758	C=0.4242
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.5839	C=0.4161
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.2355	A=0.0000, C=0.7645, G=0.0000
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	T=0.5528	C=0.4472
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	T=0.264	C=0.736
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	T=0.570	C=0.430
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	T=0.609	C=0.391
HGDP-CEPH-db Supplement 1	Europe	Sub	320	T=0.588	C=0.412
HGDP-CEPH-db Supplement 1	Africa	Sub	242	T=0.872	C=0.128
HGDP-CEPH-db Supplement 1	America	Sub	216	T=0.579	C=0.421
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	T=0.76	C=0.24
HapMap	Global	Study-wide	1892	T=0.5957	C=0.4043
HapMap	American	Sub	770	T=0.514	C=0.486
HapMap	African	Sub	692	T=0.825	C=0.175
HapMap	Asian	Sub	254	T=0.240	C=0.760
HapMap	Europe	Sub	176	T=0.562	C=0.438
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.591	C=0.409
CNV burdens in cranial meningiomas	Global	Study-wide	790	T=0.234	C=0.766
CNV burdens in cranial meningiomas	CRM	Sub	790	T=0.234	C=0.766
Northern Sweden	ACPOP	Study-wide	600	T=0.627	C=0.373
SGDP_PRJ	Global	Study-wide	370	T=0.322	C=0.678
Qatari	Global	Study-wide	216	T=0.583	C=0.417
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	76	T=0.61	C=0.39
Siberian	Global	Study-wide	44	T=0.32	C=0.68
The Danish reference pan genome	Danish	Study-wide	40	T=0.60	C=0.40

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 17	NC_000017.11:g.49486650T>A
GRCh38.p14 chr 17	NC_000017.11:g.49486650T>C
GRCh38.p14 chr 17	NC_000017.11:g.49486650T>G
GRCh37.p13 chr 17	NC_000017.10:g.47564012T>A
GRCh37.p13 chr 17	NC_000017.10:g.47564012T>C
GRCh37.p13 chr 17	NC_000017.10:g.47564012T>G

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	G
GRCh38.p14 chr 17	NC_000017.11:g.49486650=	NC_000017.11:g.49486650T>A	NC_000017.11:g.49486650T>C	NC_000017.11:g.49486650T>G
GRCh37.p13 chr 17	NC_000017.10:g.47564012=	NC_000017.10:g.47564012T>A	NC_000017.10:g.47564012T>C	NC_000017.10:g.47564012T>G

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#.

149 SubSNP, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss1500934	Oct 05, 2000 (86)
2	KIDDLAB	ss6312613	Feb 20, 2003 (111)
3	CSHL-HAPMAP	ss19357374	Feb 27, 2004 (120)
4	SSAHASNP	ss21396184	Apr 05, 2004 (121)
5	PERLEGEN	ss24587858	Sep 20, 2004 (123)
6	ABI	ss44016897	Mar 13, 2006 (126)
7	ILLUMINA	ss66729556	Nov 30, 2006 (127)
8	ILLUMINA	ss66881076	Nov 30, 2006 (127)
9	ILLUMINA	ss66972199	Nov 30, 2006 (127)
10	PERLEGEN	ss69197311	May 17, 2007 (127)
11	ILLUMINA	ss70364516	May 17, 2007 (127)
12	ILLUMINA	ss70476777	May 23, 2008 (130)
13	ILLUMINA	ss70999776	May 17, 2007 (127)
14	ILLUMINA	ss75686698	Dec 06, 2007 (129)
15	HGSV	ss77208745	Dec 06, 2007 (129)
16	KRIBB_YJKIM	ss83668813	Dec 14, 2007 (130)
17	HUMANGENOME_JCVI	ss96548011	Feb 04, 2009 (130)
18	BGI	ss103348302	Dec 01, 2009 (131)
19	1000GENOMES	ss109792617	Jan 24, 2009 (130)
20	1000GENOMES	ss113588242	Jan 25, 2009 (130)
21	ILLUMINA	ss121298846	Dec 01, 2009 (131)
22	ENSEMBL	ss136556672	Dec 01, 2009 (131)
23	ILLUMINA	ss152714707	Dec 01, 2009 (131)
24	GMI	ss158071687	Dec 01, 2009 (131)
25	ILLUMINA	ss159121366	Dec 01, 2009 (131)
26	ILLUMINA	ss159888161	Dec 01, 2009 (131)
27	COMPLETE_GENOMICS	ss168253701	Jul 04, 2010 (132)
28	ILLUMINA	ss169364311	Jul 04, 2010 (132)
29	COMPLETE_GENOMICS	ss169736628	Jul 04, 2010 (132)
30	ILLUMINA	ss170005793	Jul 04, 2010 (132)
31	BCM-HGSC-SUB	ss207879549	Jul 04, 2010 (132)
32	ILLUMINA	ss209083217	Jul 04, 2010 (132)
33	1000GENOMES	ss227565567	Jul 14, 2010 (132)
34	1000GENOMES	ss237259262	Jul 15, 2010 (132)
35	1000GENOMES	ss243551898	Jul 15, 2010 (132)
36	BL	ss255666605	May 09, 2011 (134)
37	GMI	ss282780714	May 04, 2012 (137)
38	PJP	ss292060354	May 09, 2011 (134)
39	ILLUMINA	ss479252971	May 04, 2012 (137)
40	ILLUMINA	ss479255817	May 04, 2012 (137)
41	ILLUMINA	ss479618524	Sep 08, 2015 (146)
42	ILLUMINA	ss484427189	May 04, 2012 (137)
43	EXOME_CHIP	ss491524387	May 04, 2012 (137)
44	ILLUMINA	ss536600371	Sep 08, 2015 (146)
45	TISHKOFF	ss565297168	Apr 25, 2013 (138)
46	SSMP	ss661104964	Apr 25, 2013 (138)
47	ILLUMINA	ss778686896	Aug 21, 2014 (142)
48	ILLUMINA	ss780680405	Aug 21, 2014 (142)
49	ILLUMINA	ss782660052	Aug 21, 2014 (142)
50	ILLUMINA	ss783353682	Aug 21, 2014 (142)
51	ILLUMINA	ss783629105	Aug 21, 2014 (142)
52	ILLUMINA	ss825334247	Apr 01, 2015 (144)
53	ILLUMINA	ss831910543	Apr 01, 2015 (144)
54	ILLUMINA	ss832634091	Aug 21, 2014 (142)
55	ILLUMINA	ss833224780	Aug 21, 2014 (142)
56	ILLUMINA	ss834145563	Aug 21, 2014 (142)
57	EVA-GONL	ss993152950	Aug 21, 2014 (142)
58	JMKIDD_LAB	ss1081087111	Aug 21, 2014 (142)
59	1000GENOMES	ss1358829556	Aug 21, 2014 (142)
60	DDI	ss1428044711	Apr 01, 2015 (144)
61	EVA_GENOME_DK	ss1578175317	Apr 01, 2015 (144)
62	EVA_UK10K_ALSPAC	ss1635735821	Apr 01, 2015 (144)
63	EVA_UK10K_TWINSUK	ss1678729854	Apr 01, 2015 (144)
64	EVA_DECODE	ss1697195920	Apr 01, 2015 (144)
65	EVA_SVP	ss1713585467	Apr 01, 2015 (144)
66	ILLUMINA	ss1752228893	Sep 08, 2015 (146)
67	ILLUMINA	ss1752228894	Sep 08, 2015 (146)
68	HAMMER_LAB	ss1808801919	Sep 08, 2015 (146)
69	ILLUMINA	ss1917919865	Feb 12, 2016 (147)
70	WEILL_CORNELL_DGM	ss1936615209	Feb 12, 2016 (147)
71	ILLUMINA	ss1946454143	Feb 12, 2016 (147)
72	ILLUMINA	ss1959752206	Feb 12, 2016 (147)
73	GENOMED	ss1968398181	Jul 19, 2016 (147)
74	JJLAB	ss2029083630	Sep 14, 2016 (149)
75	ILLUMINA	ss2094801441	Dec 20, 2016 (150)
76	ILLUMINA	ss2095075663	Dec 20, 2016 (150)
77	USC_VALOUEV	ss2157559336	Dec 20, 2016 (150)
78	HUMAN_LONGEVITY	ss2217178492	Dec 20, 2016 (150)
79	SYSTEMSBIOZJU	ss2629037324	Nov 08, 2017 (151)
80	ILLUMINA	ss2633401693	Nov 08, 2017 (151)
81	ILLUMINA	ss2633401694	Nov 08, 2017 (151)
82	GRF	ss2702119194	Nov 08, 2017 (151)
83	ILLUMINA	ss2710852663	Nov 08, 2017 (151)
84	GNOMAD	ss2950411607	Nov 08, 2017 (151)
85	AFFY	ss2985098583	Nov 08, 2017 (151)
86	AFFY	ss2985733326	Nov 08, 2017 (151)
87	SWEGEN	ss3015615060	Nov 08, 2017 (151)
88	BIOINF_KMB_FNS_UNIBA	ss3028363603	Nov 08, 2017 (151)
89	CSHL	ss3351763988	Nov 08, 2017 (151)
90	ILLUMINA	ss3627679893	Oct 12, 2018 (152)
91	ILLUMINA	ss3627679894	Oct 12, 2018 (152)
92	ILLUMINA	ss3631382443	Oct 12, 2018 (152)
93	ILLUMINA	ss3633142821	Oct 12, 2018 (152)
94	ILLUMINA	ss3633850460	Oct 12, 2018 (152)
95	ILLUMINA	ss3634677914	Oct 12, 2018 (152)
96	ILLUMINA	ss3634677915	Oct 12, 2018 (152)
97	ILLUMINA	ss3635538178	Oct 12, 2018 (152)
98	ILLUMINA	ss3636367369	Oct 12, 2018 (152)
99	ILLUMINA	ss3637289731	Oct 12, 2018 (152)
100	ILLUMINA	ss3638164386	Oct 12, 2018 (152)
101	ILLUMINA	ss3639090912	Oct 12, 2018 (152)
102	ILLUMINA	ss3639552571	Oct 12, 2018 (152)
103	ILLUMINA	ss3640385225	Oct 12, 2018 (152)
104	ILLUMINA	ss3640385226	Oct 12, 2018 (152)
105	ILLUMINA	ss3643142611	Oct 12, 2018 (152)
106	ILLUMINA	ss3644690168	Oct 12, 2018 (152)
107	URBANLAB	ss3650665709	Oct 12, 2018 (152)
108	ILLUMINA	ss3652203182	Oct 12, 2018 (152)
109	ILLUMINA	ss3653870017	Oct 12, 2018 (152)
110	EGCUT_WGS	ss3682488368	Jul 13, 2019 (153)
111	EVA_DECODE	ss3700558644	Jul 13, 2019 (153)
112	ACPOP	ss3742065430	Jul 13, 2019 (153)
113	ILLUMINA	ss3744445947	Jul 13, 2019 (153)
114	ILLUMINA	ss3744978196	Jul 13, 2019 (153)
115	ILLUMINA	ss3744978197	Jul 13, 2019 (153)
116	EVA	ss3754720103	Jul 13, 2019 (153)
117	PAGE_CC	ss3771931939	Jul 13, 2019 (153)
118	ILLUMINA	ss3772476027	Jul 13, 2019 (153)
119	ILLUMINA	ss3772476028	Jul 13, 2019 (153)
120	PACBIO	ss3788220284	Jul 13, 2019 (153)
121	PACBIO	ss3793174915	Jul 13, 2019 (153)
122	PACBIO	ss3798060675	Jul 13, 2019 (153)
123	KHV_HUMAN_GENOMES	ss3819987195	Jul 13, 2019 (153)
124	EVA	ss3834891218	Apr 27, 2020 (154)
125	EVA	ss3841057616	Apr 27, 2020 (154)
126	EVA	ss3846554617	Apr 27, 2020 (154)
127	HGDP	ss3847565116	Apr 27, 2020 (154)
128	SGDP_PRJ	ss3885846156	Apr 27, 2020 (154)
129	KRGDB	ss3935559332	Apr 27, 2020 (154)
130	EVA	ss3984723964	Apr 27, 2021 (155)
131	EVA	ss3985793282	Apr 27, 2021 (155)
132	EVA	ss4017769276	Apr 27, 2021 (155)
133	TOPMED	ss5037548817	Apr 27, 2021 (155)
134	TOMMO_GENOMICS	ss5222648131	Apr 27, 2021 (155)
135	1000G_HIGH_COVERAGE	ss5303295778	Oct 16, 2022 (156)
136	EVA	ss5315889485	Oct 16, 2022 (156)
137	EVA	ss5427877872	Oct 16, 2022 (156)
138	HUGCELL_USP	ss5496326472	Oct 16, 2022 (156)
139	1000G_HIGH_COVERAGE	ss5607091318	Oct 16, 2022 (156)
140	SANFORD_IMAGENETICS	ss5624398254	Oct 16, 2022 (156)
141	SANFORD_IMAGENETICS	ss5660192216	Oct 16, 2022 (156)
142	TOMMO_GENOMICS	ss5778933324	Oct 16, 2022 (156)
143	EVA	ss5799976676	Oct 16, 2022 (156)
144	YY_MCH	ss5816579937	Oct 16, 2022 (156)
145	EVA	ss5834047766	Oct 16, 2022 (156)
146	EVA	ss5847800084	Oct 16, 2022 (156)
147	EVA	ss5851824215	Oct 16, 2022 (156)
148	EVA	ss5914108047	Oct 16, 2022 (156)
149	EVA	ss5951580779	Oct 16, 2022 (156)
150	1000Genomes	NC_000017.10 - 47564012	Oct 12, 2018 (152)
151	1000Genomes_30x	NC_000017.11 - 49486650	Oct 16, 2022 (156)
152	The Avon Longitudinal Study of Parents and Children	NC_000017.10 - 47564012	Oct 12, 2018 (152)
153	Genetic variation in the Estonian population	NC_000017.10 - 47564012	Oct 12, 2018 (152)
154	The Danish reference pan genome	NC_000017.10 - 47564012	Apr 27, 2020 (154)
155	gnomAD - Genomes	NC_000017.11 - 49486650	Apr 27, 2021 (155)
156	Genome of the Netherlands Release 5	NC_000017.10 - 47564012	Apr 27, 2020 (154)
157	HGDP-CEPH-db Supplement 1	NC_000017.9 - 44919011	Apr 27, 2020 (154)
158	HapMap	NC_000017.11 - 49486650	Apr 27, 2020 (154)
159	KOREAN population from KRGDB	NC_000017.10 - 47564012	Apr 27, 2020 (154)
160	Northern Sweden	NC_000017.10 - 47564012	Jul 13, 2019 (153)
161	The PAGE Study	NC_000017.11 - 49486650	Jul 13, 2019 (153)
162	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000017.10 - 47564012	Apr 27, 2021 (155)
163	CNV burdens in cranial meningiomas	NC_000017.10 - 47564012	Apr 27, 2021 (155)
164	Qatari	NC_000017.10 - 47564012	Apr 27, 2020 (154)
165	SGDP_PRJ	NC_000017.10 - 47564012	Apr 27, 2020 (154)
166	Siberian	NC_000017.10 - 47564012	Apr 27, 2020 (154)
167	8.3KJPN	NC_000017.10 - 47564012	Apr 27, 2021 (155)
168	14KJPN	NC_000017.11 - 49486650	Oct 16, 2022 (156)
169	TopMed	NC_000017.11 - 49486650	Apr 27, 2021 (155)
170	UK 10K study - Twins	NC_000017.10 - 47564012	Oct 12, 2018 (152)
171	ALFA	NC_000017.11 - 49486650	Apr 27, 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)
rs17671059	Oct 08, 2004 (123)
rs57115633	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
42736726, ss3935559332	NC_000017.10:47564011:T:A	NC_000017.11:49486649:T:A	(self)
243008, ss77208745, ss109792617, ss113588242, ss159888161, ss168253701, ss169736628, ss207879549, ss209083217, ss255666605, ss282780714, ss292060354, ss479252971, ss825334247, ss1697195920, ss1713585467, ss3639090912, ss3639552571, ss3643142611, ss3847565116	NC_000017.9:44919010:T:C	NC_000017.11:49486649:T:C	(self)
72078221, 39942205, 28226616, 4376908, 17802118, 42736726, 15350295, 1019209, 273512, 18657131, 37863136, 10075690, 80617438, 39942205, ss227565567, ss237259262, ss243551898, ss479255817, ss479618524, ss484427189, ss491524387, ss536600371, ss565297168, ss661104964, ss778686896, ss780680405, ss782660052, ss783353682, ss783629105, ss831910543, ss832634091, ss833224780, ss834145563, ss993152950, ss1081087111, ss1358829556, ss1428044711, ss1578175317, ss1635735821, ss1678729854, ss1752228893, ss1752228894, ss1808801919, ss1917919865, ss1936615209, ss1946454143, ss1959752206, ss1968398181, ss2029083630, ss2094801441, ss2095075663, ss2157559336, ss2629037324, ss2633401693, ss2633401694, ss2702119194, ss2710852663, ss2950411607, ss2985098583, ss2985733326, ss3015615060, ss3351763988, ss3627679893, ss3627679894, ss3631382443, ss3633142821, ss3633850460, ss3634677914, ss3634677915, ss3635538178, ss3636367369, ss3637289731, ss3638164386, ss3640385225, ss3640385226, ss3644690168, ss3652203182, ss3653870017, ss3682488368, ss3742065430, ss3744445947, ss3744978196, ss3744978197, ss3754720103, ss3772476027, ss3772476028, ss3788220284, ss3793174915, ss3798060675, ss3834891218, ss3841057616, ss3885846156, ss3935559332, ss3984723964, ss3985793282, ss4017769276, ss5222648131, ss5315889485, ss5427877872, ss5624398254, ss5660192216, ss5799976676, ss5834047766, ss5847800084, ss5951580779	NC_000017.10:47564011:T:C	NC_000017.11:49486649:T:C	(self)
94617253, 508613064, 1495158, 1153408, 112770428, 253094479, 5532999560, ss2217178492, ss3028363603, ss3650665709, ss3700558644, ss3771931939, ss3819987195, ss3846554617, ss5037548817, ss5303295778, ss5496326472, ss5607091318, ss5778933324, ss5816579937, ss5851824215, ss5914108047	NC_000017.11:49486649:T:C	NC_000017.11:49486649:T:C	(self)
ss19357374, ss21396184	NT_010783.14:6217289:T:C	NC_000017.11:49486649:T:C	(self)
ss1500934, ss6312613, ss24587858, ss44016897, ss66729556, ss66881076, ss66972199, ss69197311, ss70364516, ss70476777, ss70999776, ss75686698, ss83668813, ss96548011, ss103348302, ss121298846, ss136556672, ss152714707, ss158071687, ss159121366, ss169364311, ss170005793	NT_010783.15:12838163:T:C	NC_000017.11:49486649:T:C	(self)
42736726, ss3935559332	NC_000017.10:47564011:T:G	NC_000017.11:49486649:T:G	(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 rs1035050

PMID	Title	Author	Year	Journal
27153397	Mechanisms and Disease Associations of Haplotype-Dependent Allele-Specific DNA Methylation.	Do C et al.	2016	American journal of human genetics

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

rs1035050