Name: rs16970649
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.

rs16970649

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr19:35731956 (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>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.092391 (24455/264690, TOPMED)
T=0.108704 (27051/248850, GnomAD_exome)
T=0.102590 (14371/140082, GnomAD) (+ 23 more)
T=0.110049 (13161/119592, ExAC)
T=0.09846 (8458/85906, ALFA)
T=0.07269 (2054/28256, 14KJPN)
T=0.07268 (1218/16758, 8.3KJPN)
T=0.08992 (1104/12278, GO-ESP)
T=0.1020 (653/6404, 1000G_30x)
T=0.1002 (502/5008, 1000G)
T=0.1833 (821/4480, Estonian)
T=0.0911 (351/3854, ALSPAC)
T=0.1001 (371/3708, TWINSUK)
T=0.0891 (261/2930, KOREAN)
T=0.0841 (174/2070, HGDP_Stanford)
T=0.0992 (187/1886, HapMap)
T=0.100 (100/998, GoNL)
T=0.100 (61/612, Vietnamese)
T=0.118 (71/600, NorthernSweden)
T=0.109 (58/534, MGP)
T=0.181 (55/304, FINRISK)
T=0.046 (10/216, Qatari)
C=0.47 (46/98, SGDP_PRJ)
T=0.05 (4/78, Ancient Sardinia)
T=0.07 (3/40, GENOME_DK)
C=0.39 (7/18, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: KMT2B : Missense 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	102296	C=0.901629	T=0.098371
European	Sub	71570	C=0.89846	T=0.10154
African	Sub	13012	C=0.91700	T=0.08300
African Others	Sub	456	C=0.893	T=0.107
African American	Sub	12556	C=0.91789	T=0.08211
Asian	Sub	492	C=0.923	T=0.077
East Asian	Sub	396	C=0.919	T=0.081
Other Asian	Sub	96	C=0.94	T=0.06
Latin American 1	Sub	922	C=0.911	T=0.089
Latin American 2	Sub	4818	C=0.8867	T=0.1133
South Asian	Sub	160	C=0.863	T=0.138
Other	Sub	11322	C=0.90920	T=0.09080

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=0.907609	T=0.092391
gnomAD - Exomes	Global	Study-wide	248850	C=0.891296	T=0.108704
gnomAD - Exomes	European	Sub	134258	C=0.883471	T=0.116529
gnomAD - Exomes	Asian	Sub	48548	C=0.89272	T=0.10728
gnomAD - Exomes	American	Sub	34486	C=0.89306	T=0.10694
gnomAD - Exomes	African	Sub	15470	C=0.91681	T=0.08319
gnomAD - Exomes	Ashkenazi Jewish	Sub	10044	C=0.93887	T=0.06113
gnomAD - Exomes	Other	Sub	6044	C=0.8992	T=0.1008
gnomAD - Genomes	Global	Study-wide	140082	C=0.897410	T=0.102590
gnomAD - Genomes	European	Sub	75860	C=0.88311	T=0.11689
gnomAD - Genomes	African	Sub	41966	C=0.91593	T=0.08407
gnomAD - Genomes	American	Sub	13652	C=0.90800	T=0.09200
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=0.9299	T=0.0701
gnomAD - Genomes	East Asian	Sub	3132	C=0.9058	T=0.0942
gnomAD - Genomes	Other	Sub	2150	C=0.9107	T=0.0893
ExAC	Global	Study-wide	119592	C=0.889951	T=0.110049
ExAC	Europe	Sub	72586	C=0.88543	T=0.11457
ExAC	Asian	Sub	24992	C=0.89089	T=0.10911
ExAC	American	Sub	11474	C=0.89315	T=0.10685
ExAC	African	Sub	9654	C=0.9168	T=0.0832
ExAC	Other	Sub	886	C=0.900	T=0.100
Allele Frequency Aggregator	Total	Global	85906	C=0.90154	T=0.09846
Allele Frequency Aggregator	European	Sub	61458	C=0.89912	T=0.10088
Allele Frequency Aggregator	Other	Sub	9876	C=0.9111	T=0.0889
Allele Frequency Aggregator	African	Sub	8180	C=0.9154	T=0.0846
Allele Frequency Aggregator	Latin American 2	Sub	4818	C=0.8867	T=0.1133
Allele Frequency Aggregator	Latin American 1	Sub	922	C=0.911	T=0.089
Allele Frequency Aggregator	Asian	Sub	492	C=0.923	T=0.077
Allele Frequency Aggregator	South Asian	Sub	160	C=0.863	T=0.138
14KJPN	JAPANESE	Study-wide	28256	C=0.92731	T=0.07269
8.3KJPN	JAPANESE	Study-wide	16758	C=0.92732	T=0.07268
GO Exome Sequencing Project	Global	Study-wide	12278	C=0.91008	T=0.08992
GO Exome Sequencing Project	European American	Sub	8298	C=0.9040	T=0.0960
GO Exome Sequencing Project	African American	Sub	3980	C=0.9229	T=0.0771
1000Genomes_30x	Global	Study-wide	6404	C=0.8980	T=0.1020
1000Genomes_30x	African	Sub	1786	C=0.9149	T=0.0851
1000Genomes_30x	Europe	Sub	1266	C=0.8799	T=0.1201
1000Genomes_30x	South Asian	Sub	1202	C=0.8727	T=0.1273
1000Genomes_30x	East Asian	Sub	1170	C=0.9111	T=0.0889
1000Genomes_30x	American	Sub	980	C=0.906	T=0.094
1000Genomes	Global	Study-wide	5008	C=0.8998	T=0.1002
1000Genomes	African	Sub	1322	C=0.9206	T=0.0794
1000Genomes	East Asian	Sub	1008	C=0.9117	T=0.0883
1000Genomes	Europe	Sub	1006	C=0.8797	T=0.1203
1000Genomes	South Asian	Sub	978	C=0.879	T=0.121
1000Genomes	American	Sub	694	C=0.901	T=0.099
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.8167	T=0.1833
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.9089	T=0.0911
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.8999	T=0.1001
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.9109	T=0.0891
HGDP-CEPH-db Supplement 1	Global	Study-wide	2070	C=0.9159	T=0.0841
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	468	C=0.925	T=0.075
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	408	C=0.946	T=0.054
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	348	C=0.954	T=0.046
HGDP-CEPH-db Supplement 1	Europe	Sub	316	C=0.883	T=0.117
HGDP-CEPH-db Supplement 1	Africa	Sub	242	C=0.926	T=0.074
HGDP-CEPH-db Supplement 1	America	Sub	216	C=0.815	T=0.185
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=0.92	T=0.08
HapMap	Global	Study-wide	1886	C=0.9008	T=0.0992
HapMap	American	Sub	768	C=0.893	T=0.107
HapMap	African	Sub	688	C=0.894	T=0.106
HapMap	Asian	Sub	254	C=0.949	T=0.051
HapMap	Europe	Sub	176	C=0.892	T=0.108
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.900	T=0.100
A Vietnamese Genetic Variation Database	Global	Study-wide	612	C=0.900	T=0.100
Northern Sweden	ACPOP	Study-wide	600	C=0.882	T=0.118
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.891	T=0.109
FINRISK	Finnish from FINRISK project	Study-wide	304	C=0.819	T=0.181
Qatari	Global	Study-wide	216	C=0.954	T=0.046
SGDP_PRJ	Global	Study-wide	98	C=0.47	T=0.53
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	78	C=0.95	T=0.05
The Danish reference pan genome	Danish	Study-wide	40	C=0.93	T=0.07
Siberian	Global	Study-wide	18	C=0.39	T=0.61

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 19	NC_000019.10:g.35731956C>T
GRCh37.p13 chr 19	NC_000019.9:g.36222857C>T
KMT2B RefSeqGene	NG_052906.1:g.18938C>T

Gene: KMT2B, lysine methyltransferase 2B (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
KMT2B transcript	NM_014727.3:c.5486C>T	P [CCT] > L [CTT]	Coding Sequence Variant
histone-lysine N-methyltransferase 2B	NP_055542.1:p.Pro1829Leu	P (Pro) > L (Leu)	Missense Variant
KMT2B transcript variant X1	XM_011527562.3:c.5486C>T	P [CCT] > L [CTT]	Coding Sequence Variant
histone-lysine N-methyltransferase 2B isoform X1	XP_011525864.1:p.Pro1829L… XP_011525864.1:p.Pro1829Leu	P (Pro) > L (Leu)	Missense Variant
KMT2B transcript variant X2	XM_047439787.1:c.5210C>T	P [CCT] > L [CTT]	Coding Sequence Variant
histone-lysine N-methyltransferase 2B isoform X2	XP_047295743.1:p.Pro1737L… XP_047295743.1:p.Pro1737Leu	P (Pro) > L (Leu)	Missense Variant
KMT2B transcript variant X3	XM_011527561.3:c.5420C>T	P [CCT] > L [CTT]	Coding Sequence Variant
histone-lysine N-methyltransferase 2B isoform X3	XP_011525863.3:p.Pro1807L… XP_011525863.3:p.Pro1807Leu	P (Pro) > L (Leu)	Missense Variant
KMT2B transcript variant X4	XR_935878.3:n.	N/A	Genic Downstream 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: 1267985 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001694848.4	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=	T
GRCh38.p14 chr 19	NC_000019.10:g.35731956=	NC_000019.10:g.35731956C>T
GRCh37.p13 chr 19	NC_000019.9:g.36222857=	NC_000019.9:g.36222857C>T
KMT2B RefSeqGene	NG_052906.1:g.18938=	NG_052906.1:g.18938C>T
KMT2B transcript	NM_014727.3:c.5486=	NM_014727.3:c.5486C>T
KMT2B transcript	NM_014727.2:c.5486=	NM_014727.2:c.5486C>T
KMT2B transcript	NM_014727.1:c.5486=	NM_014727.1:c.5486C>T
KMT2B transcript variant X3	XM_011527561.3:c.5420=	XM_011527561.3:c.5420C>T
KMT2B transcript variant X4	XM_011527561.2:c.4922=	XM_011527561.2:c.4922C>T
KMT2B transcript variant X1	XM_011527561.1:c.5420=	XM_011527561.1:c.5420C>T
KMT2B transcript variant X1	XM_011527562.3:c.5486=	XM_011527562.3:c.5486C>T
KMT2B transcript variant X2	XM_011527562.2:c.5486=	XM_011527562.2:c.5486C>T
KMT2B transcript variant X2	XM_011527562.1:c.5486=	XM_011527562.1:c.5486C>T
KMT2B transcript variant X2	XM_047439787.1:c.5210=	XM_047439787.1:c.5210C>T
histone-lysine N-methyltransferase 2B	NP_055542.1:p.Pro1829=	NP_055542.1:p.Pro1829Leu
histone-lysine N-methyltransferase 2B isoform X3	XP_011525863.3:p.Pro1807=	XP_011525863.3:p.Pro1807Leu
histone-lysine N-methyltransferase 2B isoform X1	XP_011525864.1:p.Pro1829=	XP_011525864.1:p.Pro1829Leu
histone-lysine N-methyltransferase 2B isoform X2	XP_047295743.1:p.Pro1737=	XP_047295743.1:p.Pro1737Leu

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#.

93 SubSNP, 26 Frequency, 1 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	PERLEGEN	ss23762218	Sep 20, 2004 (123)
2	APPLERA_GI	ss48421649	Mar 15, 2006 (126)
3	AFFY	ss66535701	Nov 29, 2006 (127)
4	ILLUMINA	ss67513145	Nov 29, 2006 (127)
5	PERLEGEN	ss69227860	May 16, 2007 (127)
6	ILLUMINA	ss71202673	May 16, 2007 (127)
7	ILLUMINA	ss75371754	Dec 07, 2007 (129)
8	AFFY	ss76358040	Dec 08, 2007 (130)
9	KRIBB_YJKIM	ss83130367	Dec 14, 2007 (130)
10	HGSV	ss85102350	Dec 15, 2007 (130)
11	BGI	ss103436696	Dec 01, 2009 (131)
12	1000GENOMES	ss115096661	Jan 25, 2009 (130)
13	GMI	ss155868431	Dec 01, 2009 (131)
14	ILLUMINA	ss160404548	Dec 01, 2009 (131)
15	COMPLETE_GENOMICS	ss169655207	Jul 04, 2010 (132)
16	BCM-HGSC-SUB	ss208510700	Jul 04, 2010 (132)
17	1000GENOMES	ss228128335	Jul 14, 2010 (132)
18	1000GENOMES	ss237668790	Jul 15, 2010 (132)
19	1000GENOMES	ss243876090	Jul 15, 2010 (132)
20	BL	ss255655966	May 09, 2011 (134)
21	GMI	ss283199055	May 04, 2012 (137)
22	ILLUMINA	ss480835158	Sep 08, 2015 (146)
23	1000GENOMES	ss491156692	May 04, 2012 (137)
24	EXOME_CHIP	ss491545466	May 04, 2012 (137)
25	CLINSEQ_SNP	ss491765001	May 04, 2012 (137)
26	TISHKOFF	ss565966251	Apr 25, 2013 (138)
27	SSMP	ss661828244	Apr 25, 2013 (138)
28	NHLBI-ESP	ss713504067	Apr 25, 2013 (138)
29	EVA-GONL	ss994271378	Aug 21, 2014 (142)
30	JMKIDD_LAB	ss1067588222	Aug 21, 2014 (142)
31	JMKIDD_LAB	ss1081885243	Aug 21, 2014 (142)
32	1000GENOMES	ss1363055052	Aug 21, 2014 (142)
33	EVA_GENOME_DK	ss1578629815	Apr 01, 2015 (144)
34	EVA_FINRISK	ss1584116773	Apr 01, 2015 (144)
35	EVA_UK10K_ALSPAC	ss1637915223	Apr 01, 2015 (144)
36	EVA_UK10K_TWINSUK	ss1680909256	Apr 01, 2015 (144)
37	EVA_EXAC	ss1693546774	Apr 01, 2015 (144)
38	EVA_DECODE	ss1698325021	Apr 01, 2015 (144)
39	EVA_MGP	ss1711510378	Apr 01, 2015 (144)
40	EVA_SVP	ss1713661019	Apr 01, 2015 (144)
41	HAMMER_LAB	ss1809294911	Sep 08, 2015 (146)
42	WEILL_CORNELL_DGM	ss1937764993	Feb 12, 2016 (147)
43	ILLUMINA	ss1959859678	Feb 12, 2016 (147)
44	GENOMED	ss1968638894	Jul 19, 2016 (147)
45	JJLAB	ss2029660575	Sep 14, 2016 (149)
46	ILLUMINA	ss2094804000	Dec 20, 2016 (150)
47	ILLUMINA	ss2095084907	Dec 20, 2016 (150)
48	USC_VALOUEV	ss2158199333	Dec 20, 2016 (150)
49	HUMAN_LONGEVITY	ss2225547824	Dec 20, 2016 (150)
50	GRF	ss2702807945	Nov 08, 2017 (151)
51	GNOMAD	ss2743907982	Nov 08, 2017 (151)
52	GNOMAD	ss2750160579	Nov 08, 2017 (151)
53	GNOMAD	ss2962530854	Nov 08, 2017 (151)
54	AFFY	ss2985139821	Nov 08, 2017 (151)
55	SWEGEN	ss3017421486	Nov 08, 2017 (151)
56	ILLUMINA	ss3021901378	Nov 08, 2017 (151)
57	BIOINF_KMB_FNS_UNIBA	ss3028663032	Nov 08, 2017 (151)
58	CSHL	ss3352290301	Nov 08, 2017 (151)
59	ILLUMINA	ss3636421376	Oct 12, 2018 (152)
60	ILLUMINA	ss3643198490	Oct 12, 2018 (152)
61	OMUKHERJEE_ADBS	ss3646535272	Oct 12, 2018 (152)
62	ILLUMINA	ss3652327251	Oct 12, 2018 (152)
63	ILLUMINA	ss3652327252	Oct 12, 2018 (152)
64	ILLUMINA	ss3653912192	Oct 12, 2018 (152)
65	EGCUT_WGS	ss3684196632	Jul 13, 2019 (153)
66	EVA_DECODE	ss3702711323	Jul 13, 2019 (153)
67	ACPOP	ss3743014251	Jul 13, 2019 (153)
68	EVA	ss3756031260	Jul 13, 2019 (153)
69	KHV_HUMAN_GENOMES	ss3821278867	Jul 13, 2019 (153)
70	EVA	ss3825276723	Apr 27, 2020 (154)
71	EVA	ss3825933716	Apr 27, 2020 (154)
72	EVA	ss3835448617	Apr 27, 2020 (154)
73	HGDP	ss3847598979	Apr 27, 2020 (154)
74	SGDP_PRJ	ss3888156519	Apr 27, 2020 (154)
75	KRGDB	ss3938251112	Apr 27, 2020 (154)
76	FSA-LAB	ss3984152242	Apr 26, 2021 (155)
77	EVA	ss3985853579	Apr 26, 2021 (155)
78	EVA	ss3986793190	Apr 26, 2021 (155)
79	TOPMED	ss5073869842	Apr 26, 2021 (155)
80	TOMMO_GENOMICS	ss5227612014	Apr 26, 2021 (155)
81	EVA	ss5236959935	Apr 26, 2021 (155)
82	1000G_HIGH_COVERAGE	ss5307144549	Oct 16, 2022 (156)
83	EVA	ss5434665483	Oct 16, 2022 (156)
84	HUGCELL_USP	ss5499684411	Oct 16, 2022 (156)
85	EVA	ss5512093958	Oct 16, 2022 (156)
86	1000G_HIGH_COVERAGE	ss5612829906	Oct 16, 2022 (156)
87	SANFORD_IMAGENETICS	ss5662335227	Oct 16, 2022 (156)
88	TOMMO_GENOMICS	ss5786196870	Oct 16, 2022 (156)
89	YY_MCH	ss5817574742	Oct 16, 2022 (156)
90	EVA	ss5840510994	Oct 16, 2022 (156)
91	EVA	ss5848490312	Oct 16, 2022 (156)
92	EVA	ss5927995378	Oct 16, 2022 (156)
93	EVA	ss5953751528	Oct 16, 2022 (156)
94	1000Genomes	NC_000019.9 - 36222857	Oct 12, 2018 (152)
95	1000Genomes_30x	NC_000019.10 - 35731956	Oct 16, 2022 (156)
96	The Avon Longitudinal Study of Parents and Children	NC_000019.9 - 36222857	Oct 12, 2018 (152)
97	Genetic variation in the Estonian population	NC_000019.9 - 36222857	Oct 12, 2018 (152)
98	ExAC	NC_000019.9 - 36222857	Oct 12, 2018 (152)
99	FINRISK	NC_000019.9 - 36222857	Apr 27, 2020 (154)
100	The Danish reference pan genome	NC_000019.9 - 36222857	Apr 27, 2020 (154)
101	gnomAD - Genomes	NC_000019.10 - 35731956	Apr 26, 2021 (155)
102	gnomAD - Exomes	NC_000019.9 - 36222857	Jul 13, 2019 (153)
103	GO Exome Sequencing Project	NC_000019.9 - 36222857	Oct 12, 2018 (152)
104	Genome of the Netherlands Release 5	NC_000019.9 - 36222857	Apr 27, 2020 (154)
105	HGDP-CEPH-db Supplement 1	NC_000019.8 - 40914697	Apr 27, 2020 (154)
106	HapMap	NC_000019.10 - 35731956	Apr 27, 2020 (154)
107	KOREAN population from KRGDB	NC_000019.9 - 36222857	Apr 27, 2020 (154)
108	Medical Genome Project healthy controls from Spanish population	NC_000019.9 - 36222857	Apr 27, 2020 (154)
109	Northern Sweden	NC_000019.9 - 36222857	Jul 13, 2019 (153)
110	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000019.9 - 36222857	Apr 26, 2021 (155)
111	Qatari	NC_000019.9 - 36222857	Apr 27, 2020 (154)
112	SGDP_PRJ	NC_000019.9 - 36222857	Apr 27, 2020 (154)
113	Siberian	NC_000019.9 - 36222857	Apr 27, 2020 (154)
114	8.3KJPN	NC_000019.9 - 36222857	Apr 26, 2021 (155)
115	14KJPN	NC_000019.10 - 35731956	Oct 16, 2022 (156)
116	TopMed	NC_000019.10 - 35731956	Apr 26, 2021 (155)
117	UK 10K study - Twins	NC_000019.9 - 36222857	Oct 12, 2018 (152)
118	A Vietnamese Genetic Variation Database	NC_000019.9 - 36222857	Jul 13, 2019 (153)
119	ALFA	NC_000019.10 - 35731956	Apr 26, 2021 (155)
120	ClinVar	RCV001694848.4	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).

Associated ID	History Updated (Build)
rs56612720	May 25, 2008 (130)
rs57770085	Feb 27, 2009 (130)
rs60126381	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
276871, ss85102350, ss115096661, ss169655207, ss208510700, ss255655966, ss283199055, ss491765001, ss1698325021, ss1713661019, ss3643198490, ss3847598979	NC_000019.8:40914696:C:T	NC_000019.10:35731955:C:T	(self)
76458017, 42350579, 29934880, 4047454, 113234, 4812709, 13221739, 1733687, 18866894, 45428506, 626138, 16299116, 1079506, 19806915, 40173499, 10715687, 85581321, 42350579, 9355587, ss228128335, ss237668790, ss243876090, ss480835158, ss491156692, ss491545466, ss565966251, ss661828244, ss713504067, ss994271378, ss1067588222, ss1081885243, ss1363055052, ss1578629815, ss1584116773, ss1637915223, ss1680909256, ss1693546774, ss1711510378, ss1809294911, ss1937764993, ss1959859678, ss1968638894, ss2029660575, ss2094804000, ss2095084907, ss2158199333, ss2702807945, ss2743907982, ss2750160579, ss2962530854, ss2985139821, ss3017421486, ss3021901378, ss3352290301, ss3636421376, ss3646535272, ss3652327251, ss3652327252, ss3653912192, ss3684196632, ss3743014251, ss3756031260, ss3825276723, ss3825933716, ss3835448617, ss3888156519, ss3938251112, ss3984152242, ss3985853579, ss3986793190, ss5227612014, ss5434665483, ss5512093958, ss5662335227, ss5840510994, ss5848490312, ss5953751528	NC_000019.9:36222856:C:T	NC_000019.10:35731955:C:T	(self)
RCV001694848.4, 100355841, 539215553, 1692320, 120033974, 289415506, 7099890844, ss2225547824, ss3028663032, ss3702711323, ss3821278867, ss5073869842, ss5236959935, ss5307144549, ss5499684411, ss5612829906, ss5786196870, ss5817574742, ss5927995378	NC_000019.10:35731955:C:T	NC_000019.10:35731955:C:T	(self)
ss23762218, ss48421649, ss66535701, ss67513145, ss69227860, ss71202673, ss75371754, ss76358040, ss83130367, ss103436696, ss155868431, ss160404548	NT_011109.16:8491074:C:T	NC_000019.10:35731955: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 rs16970649

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs16970649