Name: rs2254398
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.

rs2254398

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr20:64204871 (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>C
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.412403 (109159/264690, TOPMED)
T=0.467818 (81697/174634, ALFA)
T=0.408481 (57220/140080, GnomAD) (+ 21 more)
T=0.43868 (34524/78700, PAGE_STUDY)
C=0.09477 (2678/28258, 14KJPN)
C=0.09457 (1585/16760, 8.3KJPN)
T=0.4731 (3030/6404, 1000G_30x)
T=0.4884 (2446/5008, 1000G)
C=0.4730 (2119/4480, Estonian)
T=0.4925 (1898/3854, ALSPAC)
T=0.4973 (1844/3708, TWINSUK)
C=0.1017 (298/2930, KOREAN)
C=0.4391 (915/2084, HGDP_Stanford)
T=0.4286 (811/1892, HapMap)
T=0.461 (460/998, GoNL)
C=0.125 (99/792, PRJEB37584)
T=0.493 (296/600, NorthernSweden)
C=0.200 (107/534, MGP)
T=0.274 (86/314, SGDP_PRJ)
T=0.296 (64/216, Qatari)
C=0.125 (27/216, Vietnamese)
C=0.44 (24/54, Ancient Sardinia)
C=0.33 (13/40, GENOME_DK)
T=0.43 (12/28, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: MYT1 : 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	179668	T=0.466004	C=0.533996
European	Sub	156900	T=0.468840	C=0.531160
African	Sub	6730	T=0.1850	C=0.8150
African Others	Sub	264	T=0.102	C=0.898
African American	Sub	6466	T=0.1884	C=0.8116
Asian	Sub	700	T=0.853	C=0.147
East Asian	Sub	568	T=0.875	C=0.125
Other Asian	Sub	132	T=0.758	C=0.242
Latin American 1	Sub	738	T=0.371	C=0.629
Latin American 2	Sub	6268	T=0.6602	C=0.3398
South Asian	Sub	190	T=0.484	C=0.516
Other	Sub	8142	T=0.4690	C=0.5310

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
TopMed	Global	Study-wide	264690	T=0.412403	C=0.587597
Allele Frequency Aggregator	Total	Global	174634	T=0.467818	C=0.532182
Allele Frequency Aggregator	European	Sub	153808	T=0.468688	C=0.531312
Allele Frequency Aggregator	Other	Sub	7342	T=0.4725	C=0.5275
Allele Frequency Aggregator	Latin American 2	Sub	6268	T=0.6602	C=0.3398
Allele Frequency Aggregator	African	Sub	5588	T=0.1859	C=0.8141
Allele Frequency Aggregator	Latin American 1	Sub	738	T=0.371	C=0.629
Allele Frequency Aggregator	Asian	Sub	700	T=0.853	C=0.147
Allele Frequency Aggregator	South Asian	Sub	190	T=0.484	C=0.516
gnomAD - Genomes	Global	Study-wide	140080	T=0.408481	C=0.591519
gnomAD - Genomes	European	Sub	75840	T=0.49026	C=0.50974
gnomAD - Genomes	African	Sub	41990	T=0.18654	C=0.81346
gnomAD - Genomes	American	Sub	13648	T=0.53605	C=0.46395
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	T=0.3721	C=0.6279
gnomAD - Genomes	East Asian	Sub	3130	T=0.8709	C=0.1291
gnomAD - Genomes	Other	Sub	2148	T=0.4316	C=0.5684
The PAGE Study	Global	Study-wide	78700	T=0.43868	C=0.56132
The PAGE Study	AfricanAmerican	Sub	32514	T=0.19668	C=0.80332
The PAGE Study	Mexican	Sub	10810	T=0.65125	C=0.34875
The PAGE Study	Asian	Sub	8318	T=0.8836	C=0.1164
The PAGE Study	PuertoRican	Sub	7918	T=0.4468	C=0.5532
The PAGE Study	NativeHawaiian	Sub	4534	T=0.7891	C=0.2109
The PAGE Study	Cuban	Sub	4230	T=0.3969	C=0.6031
The PAGE Study	Dominican	Sub	3828	T=0.3255	C=0.6745
The PAGE Study	CentralAmerican	Sub	2450	T=0.5784	C=0.4216
The PAGE Study	SouthAmerican	Sub	1982	T=0.6322	C=0.3678
The PAGE Study	NativeAmerican	Sub	1260	T=0.5111	C=0.4889
The PAGE Study	SouthAsian	Sub	856	T=0.449	C=0.551
14KJPN	JAPANESE	Study-wide	28258	T=0.90523	C=0.09477
8.3KJPN	JAPANESE	Study-wide	16760	T=0.90543	C=0.09457
1000Genomes_30x	Global	Study-wide	6404	T=0.4731	C=0.5269
1000Genomes_30x	African	Sub	1786	T=0.1433	C=0.8567
1000Genomes_30x	Europe	Sub	1266	T=0.4629	C=0.5371
1000Genomes_30x	South Asian	Sub	1202	T=0.4651	C=0.5349
1000Genomes_30x	East Asian	Sub	1170	T=0.8692	C=0.1308
1000Genomes_30x	American	Sub	980	T=0.624	C=0.376
1000Genomes	Global	Study-wide	5008	T=0.4884	C=0.5116
1000Genomes	African	Sub	1322	T=0.1498	C=0.8502
1000Genomes	East Asian	Sub	1008	T=0.8770	C=0.1230
1000Genomes	Europe	Sub	1006	T=0.4682	C=0.5318
1000Genomes	South Asian	Sub	978	T=0.475	C=0.525
1000Genomes	American	Sub	694	T=0.617	C=0.383
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.5270	C=0.4730
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.4925	C=0.5075
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.4973	C=0.5027
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.8983	C=0.1017
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	T=0.5609	C=0.4391
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	T=0.853	C=0.147
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	T=0.529	C=0.471
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	T=0.323	C=0.677
HGDP-CEPH-db Supplement 1	Europe	Sub	320	T=0.519	C=0.481
HGDP-CEPH-db Supplement 1	Africa	Sub	242	T=0.103	C=0.897
HGDP-CEPH-db Supplement 1	America	Sub	216	T=0.852	C=0.148
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	T=0.85	C=0.15
HapMap	Global	Study-wide	1892	T=0.4286	C=0.5714
HapMap	American	Sub	770	T=0.552	C=0.448
HapMap	African	Sub	692	T=0.120	C=0.880
HapMap	Asian	Sub	254	T=0.902	C=0.098
HapMap	Europe	Sub	176	T=0.420	C=0.580
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.461	C=0.539
CNV burdens in cranial meningiomas	Global	Study-wide	792	T=0.875	C=0.125
CNV burdens in cranial meningiomas	CRM	Sub	792	T=0.875	C=0.125
Northern Sweden	ACPOP	Study-wide	600	T=0.493	C=0.507
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	T=0.800	C=0.200
SGDP_PRJ	Global	Study-wide	314	T=0.274	C=0.726
Qatari	Global	Study-wide	216	T=0.296	C=0.704
A Vietnamese Genetic Variation Database	Global	Study-wide	216	T=0.875	C=0.125
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	54	T=0.56	C=0.44
The Danish reference pan genome	Danish	Study-wide	40	T=0.68	C=0.33
Siberian	Global	Study-wide	28	T=0.43	C=0.57

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.64204871T>C
GRCh37.p13 chr 20	NC_000020.10:g.62836224T>C
GRCh38.p14 chr 20 alt locus HSCHR20_1_CTG3	NT_187624.1:g.113462T>C

Gene: MYT1, myelin transcription factor 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
MYT1 transcript	NM_004535.3:c.87-164T>C	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	T=	C
GRCh38.p14 chr 20	NC_000020.11:g.64204871=	NC_000020.11:g.64204871T>C
GRCh37.p13 chr 20	NC_000020.10:g.62836224=	NC_000020.10:g.62836224T>C
GRCh38.p14 chr 20 alt locus HSCHR20_1_CTG3	NT_187624.1:g.113462=	NT_187624.1:g.113462T>C
MYT1 transcript	NM_004535.2:c.87-164=	NM_004535.2:c.87-164T>C
MYT1 transcript	NM_004535.3:c.87-164=	NM_004535.3:c.87-164T>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#.

125 SubSNP, 24 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	YUSUKE	ss3208908	Sep 28, 2001 (100)
2	SC_JCM	ss3402024	Sep 28, 2001 (100)
3	SC_SNP	ss8310365	Apr 21, 2003 (114)
4	SSAHASNP	ss21798224	Apr 05, 2004 (121)
5	ABI	ss44214759	Mar 14, 2006 (126)
6	ILLUMINA	ss67635020	Nov 29, 2006 (127)
7	PERLEGEN	ss69247936	May 16, 2007 (127)
8	ILLUMINA	ss71284932	May 16, 2007 (127)
9	ILLUMINA	ss75379054	Dec 06, 2007 (129)
10	KRIBB_YJKIM	ss80732965	Dec 14, 2007 (130)
11	BCMHGSC_JDW	ss91758009	Mar 24, 2008 (129)
12	HUMANGENOME_JCVI	ss96207378	Feb 04, 2009 (130)
13	BGI	ss106199753	Feb 04, 2009 (130)
14	1000GENOMES	ss112254840	Jan 25, 2009 (130)
15	1000GENOMES	ss113579306	Jan 25, 2009 (130)
16	ILLUMINA-UK	ss117612285	Feb 14, 2009 (130)
17	KRIBB_YJKIM	ss119424604	Dec 01, 2009 (131)
18	ENSEMBL	ss135674693	Dec 01, 2009 (131)
19	ILLUMINA	ss160522831	Dec 01, 2009 (131)
20	COMPLETE_GENOMICS	ss168440048	Jul 04, 2010 (132)
21	COMPLETE_GENOMICS	ss170120648	Jul 04, 2010 (132)
22	BUSHMAN	ss203948098	Jul 04, 2010 (132)
23	1000GENOMES	ss228454363	Jul 14, 2010 (132)
24	1000GENOMES	ss237903986	Jul 15, 2010 (132)
25	1000GENOMES	ss244058858	Jul 15, 2010 (132)
26	BL	ss255776813	May 09, 2011 (134)
27	PJP	ss292600406	May 09, 2011 (134)
28	ILLUMINA	ss480488787	May 04, 2012 (137)
29	ILLUMINA	ss480503156	May 04, 2012 (137)
30	ILLUMINA	ss481305598	Sep 08, 2015 (146)
31	ILLUMINA	ss485041952	May 04, 2012 (137)
32	ILLUMINA	ss537063355	Sep 08, 2015 (146)
33	TISHKOFF	ss566371050	Apr 25, 2013 (138)
34	SSMP	ss662253187	Apr 25, 2013 (138)
35	ILLUMINA	ss778488043	Sep 08, 2015 (146)
36	ILLUMINA	ss782967190	Sep 08, 2015 (146)
37	ILLUMINA	ss783928972	Sep 08, 2015 (146)
38	ILLUMINA	ss832223471	Sep 08, 2015 (146)
39	ILLUMINA	ss833944007	Sep 08, 2015 (146)
40	EVA-GONL	ss994914713	Aug 21, 2014 (142)
41	JMKIDD_LAB	ss1082342592	Aug 21, 2014 (142)
42	1000GENOMES	ss1365514392	Aug 21, 2014 (142)
43	DDI	ss1429108093	Apr 01, 2015 (144)
44	EVA_GENOME_DK	ss1579580119	Apr 01, 2015 (144)
45	EVA_UK10K_ALSPAC	ss1639176301	Apr 01, 2015 (144)
46	EVA_UK10K_TWINSUK	ss1682170334	Apr 01, 2015 (144)
47	EVA_DECODE	ss1698979213	Apr 01, 2015 (144)
48	EVA_MGP	ss1711548051	Apr 01, 2015 (144)
49	EVA_SVP	ss1713709019	Apr 01, 2015 (144)
50	ILLUMINA	ss1752397996	Sep 08, 2015 (146)
51	HAMMER_LAB	ss1809588194	Sep 08, 2015 (146)
52	WEILL_CORNELL_DGM	ss1938438356	Feb 12, 2016 (147)
53	ILLUMINA	ss1946558056	Feb 12, 2016 (147)
54	ILLUMINA	ss1959934871	Feb 12, 2016 (147)
55	GENOMED	ss1969173084	Jul 19, 2016 (147)
56	JJLAB	ss2029999185	Sep 14, 2016 (149)
57	USC_VALOUEV	ss2158572217	Dec 20, 2016 (150)
58	HUMAN_LONGEVITY	ss2244286225	Dec 20, 2016 (150)
59	SYSTEMSBIOZJU	ss2629491989	Nov 08, 2017 (151)
60	ILLUMINA	ss2633825577	Nov 08, 2017 (151)
61	GRF	ss2704269890	Nov 08, 2017 (151)
62	ILLUMINA	ss2710945805	Nov 08, 2017 (151)
63	GNOMAD	ss2969503270	Nov 08, 2017 (151)
64	SWEGEN	ss3018486091	Nov 08, 2017 (151)
65	ILLUMINA	ss3022139485	Nov 08, 2017 (151)
66	BIOINF_KMB_FNS_UNIBA	ss3028833056	Nov 08, 2017 (151)
67	CSHL	ss3352599879	Nov 08, 2017 (151)
68	ILLUMINA	ss3625792683	Oct 12, 2018 (152)
69	ILLUMINA	ss3628439241	Oct 12, 2018 (152)
70	ILLUMINA	ss3631780235	Oct 12, 2018 (152)
71	ILLUMINA	ss3633258295	Oct 12, 2018 (152)
72	ILLUMINA	ss3633972984	Oct 12, 2018 (152)
73	ILLUMINA	ss3634846496	Oct 12, 2018 (152)
74	ILLUMINA	ss3635657882	Oct 12, 2018 (152)
75	ILLUMINA	ss3636540546	Oct 12, 2018 (152)
76	ILLUMINA	ss3637410021	Oct 12, 2018 (152)
77	ILLUMINA	ss3640553794	Oct 12, 2018 (152)
78	ILLUMINA	ss3643319658	Oct 12, 2018 (152)
79	ILLUMINA	ss3644788453	Oct 12, 2018 (152)
80	URBANLAB	ss3651057076	Oct 12, 2018 (152)
81	ILLUMINA	ss3652597784	Oct 12, 2018 (152)
82	EGCUT_WGS	ss3685170442	Jul 13, 2019 (153)
83	EVA_DECODE	ss3707327845	Jul 13, 2019 (153)
84	ILLUMINA	ss3725932641	Jul 13, 2019 (153)
85	ACPOP	ss3743558099	Jul 13, 2019 (153)
86	ILLUMINA	ss3744200575	Jul 13, 2019 (153)
87	ILLUMINA	ss3745146386	Jul 13, 2019 (153)
88	EVA	ss3758877255	Jul 13, 2019 (153)
89	PAGE_CC	ss3772062264	Jul 13, 2019 (153)
90	ILLUMINA	ss3772642479	Jul 13, 2019 (153)
91	PACBIO	ss3788697324	Jul 13, 2019 (153)
92	PACBIO	ss3793581327	Jul 13, 2019 (153)
93	PACBIO	ss3798468766	Jul 13, 2019 (153)
94	KHV_HUMAN_GENOMES	ss3822029851	Jul 13, 2019 (153)
95	EVA	ss3835768410	Apr 27, 2020 (154)
96	EVA	ss3841509031	Apr 27, 2020 (154)
97	EVA	ss3847022889	Apr 27, 2020 (154)
98	HGDP	ss3847674262	Apr 27, 2020 (154)
99	SGDP_PRJ	ss3889503596	Apr 27, 2020 (154)
100	KRGDB	ss3939834239	Apr 27, 2020 (154)
101	FSA-LAB	ss3984222099	Apr 26, 2021 (155)
102	EVA	ss3984753322	Apr 26, 2021 (155)
103	EVA	ss3985892108	Apr 26, 2021 (155)
104	EVA	ss4017858518	Apr 26, 2021 (155)
105	VINODS	ss4034312537	Apr 26, 2021 (155)
106	TOPMED	ss5094910009	Apr 26, 2021 (155)
107	TOMMO_GENOMICS	ss5230502200	Apr 26, 2021 (155)
108	EVA	ss5237253143	Apr 26, 2021 (155)
109	1000G_HIGH_COVERAGE	ss5309460512	Oct 16, 2022 (156)
110	EVA	ss5316023693	Oct 16, 2022 (156)
111	HUGCELL_USP	ss5501672751	Oct 16, 2022 (156)
112	EVA	ss5512264907	Oct 16, 2022 (156)
113	1000G_HIGH_COVERAGE	ss5616225658	Oct 16, 2022 (156)
114	EVA	ss5624116132	Oct 16, 2022 (156)
115	SANFORD_IMAGENETICS	ss5663581703	Oct 16, 2022 (156)
116	TOMMO_GENOMICS	ss5790578820	Oct 16, 2022 (156)
117	EVA	ss5800028226	Oct 16, 2022 (156)
118	EVA	ss5800231572	Oct 16, 2022 (156)
119	YY_MCH	ss5818205959	Oct 16, 2022 (156)
120	EVA	ss5845954655	Oct 16, 2022 (156)
121	EVA	ss5847928609	Oct 16, 2022 (156)
122	EVA	ss5853219327	Oct 16, 2022 (156)
123	EVA	ss5924185722	Oct 16, 2022 (156)
124	EVA	ss5958514338	Oct 16, 2022 (156)
125	EVA	ss5981100420	Oct 16, 2022 (156)
126	1000Genomes	NC_000020.10 - 62836224	Oct 12, 2018 (152)
127	1000Genomes_30x	NC_000020.11 - 64204871	Oct 16, 2022 (156)
128	The Avon Longitudinal Study of Parents and Children	NC_000020.10 - 62836224	Oct 12, 2018 (152)
129	Genetic variation in the Estonian population	NC_000020.10 - 62836224	Oct 12, 2018 (152)
130	The Danish reference pan genome	NC_000020.10 - 62836224	Apr 27, 2020 (154)
131	gnomAD - Genomes	NC_000020.11 - 64204871	Apr 26, 2021 (155)
132	Genome of the Netherlands Release 5	NC_000020.10 - 62836224	Apr 27, 2020 (154)
133	HGDP-CEPH-db Supplement 1	NC_000020.9 - 62306668	Apr 27, 2020 (154)
134	HapMap	NC_000020.11 - 64204871	Apr 27, 2020 (154)
135	KOREAN population from KRGDB	NC_000020.10 - 62836224	Apr 27, 2020 (154)
136	Medical Genome Project healthy controls from Spanish population	NC_000020.10 - 62836224	Apr 27, 2020 (154)
137	Northern Sweden	NC_000020.10 - 62836224	Jul 13, 2019 (153)
138	The PAGE Study	NC_000020.11 - 64204871	Jul 13, 2019 (153)
139	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000020.10 - 62836224	Apr 26, 2021 (155)
140	CNV burdens in cranial meningiomas	NC_000020.10 - 62836224	Apr 26, 2021 (155)
141	Qatari	NC_000020.10 - 62836224	Apr 27, 2020 (154)
142	SGDP_PRJ	NC_000020.10 - 62836224	Apr 27, 2020 (154)
143	Siberian	NC_000020.10 - 62836224	Apr 27, 2020 (154)
144	8.3KJPN	NC_000020.10 - 62836224	Apr 26, 2021 (155)
145	14KJPN	NC_000020.11 - 64204871	Oct 16, 2022 (156)
146	TopMed	NC_000020.11 - 64204871	Apr 26, 2021 (155)
147	UK 10K study - Twins	NC_000020.10 - 62836224	Oct 12, 2018 (152)
148	A Vietnamese Genetic Variation Database	NC_000020.10 - 62836224	Jul 13, 2019 (153)
149	ALFA	NC_000020.11 - 64204871	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)
rs57397606	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
352154, ss91758009, ss112254840, ss113579306, ss117612285, ss168440048, ss170120648, ss203948098, ss255776813, ss292600406, ss480488787, ss1698979213, ss1713709019, ss3643319658, ss3847674262	NC_000020.9:62306667:T:C	NC_000020.11:64204870:T:C	(self)
79003387, 43742734, 30908690, 5745058, 19479459, 47011633, 663811, 16842964, 1118035, 302898, 20480278, 41520576, 11088571, 88471507, 43742734, 9645438, ss228454363, ss237903986, ss244058858, ss480503156, ss481305598, ss485041952, ss537063355, ss566371050, ss662253187, ss778488043, ss782967190, ss783928972, ss832223471, ss833944007, ss994914713, ss1082342592, ss1365514392, ss1429108093, ss1579580119, ss1639176301, ss1682170334, ss1711548051, ss1752397996, ss1809588194, ss1938438356, ss1946558056, ss1959934871, ss1969173084, ss2029999185, ss2158572217, ss2629491989, ss2633825577, ss2704269890, ss2710945805, ss2969503270, ss3018486091, ss3022139485, ss3352599879, ss3625792683, ss3628439241, ss3631780235, ss3633258295, ss3633972984, ss3634846496, ss3635657882, ss3636540546, ss3637410021, ss3640553794, ss3644788453, ss3652597784, ss3685170442, ss3743558099, ss3744200575, ss3745146386, ss3758877255, ss3772642479, ss3788697324, ss3793581327, ss3798468766, ss3835768410, ss3841509031, ss3889503596, ss3939834239, ss3984222099, ss3984753322, ss3985892108, ss4017858518, ss5230502200, ss5316023693, ss5512264907, ss5624116132, ss5663581703, ss5800028226, ss5800231572, ss5845954655, ss5847928609, ss5958514338, ss5981100420	NC_000020.10:62836223:T:C	NC_000020.11:64204870:T:C	(self)
103751593, 557149097, 2170349, 1283733, 124415924, 370018954, 3478656675, ss2244286225, ss3028833056, ss3651057076, ss3707327845, ss3725932641, ss3772062264, ss3822029851, ss3847022889, ss5094910009, ss5237253143, ss5309460512, ss5501672751, ss5616225658, ss5790578820, ss5818205959, ss5853219327, ss5924185722	NC_000020.11:64204870:T:C	NC_000020.11:64204870:T:C	(self)
ss8310365, ss21798224	NT_011333.5:1572853:T:C	NC_000020.11:64204870:T:C	(self)
ss3208908, ss3402024, ss44214759, ss67635020, ss69247936, ss71284932, ss75379054, ss80732965, ss96207378, ss106199753, ss119424604, ss135674693, ss160522831	NT_011333.6:1572854:T:C	NC_000020.11:64204870:T:C	(self)
ss4034312537	NT_187624.1:113461:T:C	NC_000020.11:64204870:T:C	(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 rs2254398

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

rs2254398