Name: rs167769
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.

rs167769

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:57109992 (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=0.301953 (79924/264690, TOPMED)
T=0.365629 (81683/223404, ALFA)
T=0.308108 (43113/139928, GnomAD) (+ 22 more)
T=0.24763 (19488/78698, PAGE_STUDY)
T=0.21389 (6044/28258, 14KJPN)
T=0.21253 (3562/16760, 8.3KJPN)
T=0.2673 (1712/6404, 1000G_30x)
T=0.2690 (1347/5008, 1000G)
T=0.4402 (1972/4480, Estonian)
T=0.4014 (1547/3854, ALSPAC)
T=0.4124 (1529/3708, TWINSUK)
T=0.2232 (654/2930, KOREAN)
T=0.2917 (608/2084, HGDP_Stanford)
T=0.2167 (410/1892, HapMap)
T=0.2162 (396/1832, Korea1K)
T=0.396 (395/998, GoNL)
T=0.396 (347/876, PharmGKB)
T=0.239 (189/790, PRJEB37584)
T=0.423 (254/600, NorthernSweden)
C=0.381 (96/252, SGDP_PRJ)
T=0.167 (36/216, Qatari)
T=0.187 (40/214, Vietnamese)
T=0.22 (18/82, Ancient Sardinia)
T=0.40 (16/40, GENOME_DK)
C=0.42 (11/26, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: STAT6 : Intron Variant
LOC124902946 : 2KB Upstream Variant
Publications: 14 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	223620	C=0.634389	T=0.365611
European	Sub	197692	C=0.622883	T=0.377117
African	Sub	5934	C=0.8519	T=0.1481
African Others	Sub	224	C=0.884	T=0.116
African American	Sub	5710	C=0.8506	T=0.1494
Asian	Sub	3414	C=0.7803	T=0.2197
East Asian	Sub	2748	C=0.7729	T=0.2271
Other Asian	Sub	666	C=0.811	T=0.189
Latin American 1	Sub	548	C=0.737	T=0.263
Latin American 2	Sub	1572	C=0.6145	T=0.3855
South Asian	Sub	5138	C=0.6436	T=0.3564
Other	Sub	9322	C=0.6787	T=0.3213

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=0.698047	T=0.301953
Allele Frequency Aggregator	Total	Global	223404	C=0.634371	T=0.365629
Allele Frequency Aggregator	European	Sub	197512	C=0.622874	T=0.377126
Allele Frequency Aggregator	Other	Sub	9300	C=0.6787	T=0.3213
Allele Frequency Aggregator	African	Sub	5920	C=0.8519	T=0.1481
Allele Frequency Aggregator	South Asian	Sub	5138	C=0.6436	T=0.3564
Allele Frequency Aggregator	Asian	Sub	3414	C=0.7803	T=0.2197
Allele Frequency Aggregator	Latin American 2	Sub	1572	C=0.6145	T=0.3855
Allele Frequency Aggregator	Latin American 1	Sub	548	C=0.737	T=0.263
gnomAD - Genomes	Global	Study-wide	139928	C=0.691892	T=0.308108
gnomAD - Genomes	European	Sub	75790	C=0.60994	T=0.39006
gnomAD - Genomes	African	Sub	41910	C=0.85199	T=0.14801
gnomAD - Genomes	American	Sub	13630	C=0.63742	T=0.36258
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	C=0.7024	T=0.2976
gnomAD - Genomes	East Asian	Sub	3132	C=0.7497	T=0.2503
gnomAD - Genomes	Other	Sub	2146	C=0.7050	T=0.2950
The PAGE Study	Global	Study-wide	78698	C=0.75237	T=0.24763
The PAGE Study	AfricanAmerican	Sub	32514	C=0.84044	T=0.15956
The PAGE Study	Mexican	Sub	10808	C=0.60751	T=0.39249
The PAGE Study	Asian	Sub	8318	C=0.7915	T=0.2085
The PAGE Study	PuertoRican	Sub	7918	C=0.6514	T=0.3486
The PAGE Study	NativeHawaiian	Sub	4534	C=0.7748	T=0.2252
The PAGE Study	Cuban	Sub	4230	C=0.7165	T=0.2835
The PAGE Study	Dominican	Sub	3828	C=0.7719	T=0.2281
The PAGE Study	CentralAmerican	Sub	2450	C=0.6306	T=0.3694
The PAGE Study	SouthAmerican	Sub	1982	C=0.6221	T=0.3779
The PAGE Study	NativeAmerican	Sub	1260	C=0.6127	T=0.3873
The PAGE Study	SouthAsian	Sub	856	C=0.616	T=0.384
14KJPN	JAPANESE	Study-wide	28258	C=0.78611	T=0.21389
8.3KJPN	JAPANESE	Study-wide	16760	C=0.78747	T=0.21253
1000Genomes_30x	Global	Study-wide	6404	C=0.7327	T=0.2673
1000Genomes_30x	African	Sub	1786	C=0.8970	T=0.1030
1000Genomes_30x	Europe	Sub	1266	C=0.6643	T=0.3357
1000Genomes_30x	South Asian	Sub	1202	C=0.6539	T=0.3461
1000Genomes_30x	East Asian	Sub	1170	C=0.7504	T=0.2496
1000Genomes_30x	American	Sub	980	C=0.597	T=0.403
1000Genomes	Global	Study-wide	5008	C=0.7310	T=0.2690
1000Genomes	African	Sub	1322	C=0.8896	T=0.1104
1000Genomes	East Asian	Sub	1008	C=0.7470	T=0.2530
1000Genomes	Europe	Sub	1006	C=0.6650	T=0.3350
1000Genomes	South Asian	Sub	978	C=0.666	T=0.334
1000Genomes	American	Sub	694	C=0.594	T=0.406
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.5598	T=0.4402
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.5986	T=0.4014
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.5876	T=0.4124
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.7768	T=0.2232
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	C=0.7083	T=0.2917
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	C=0.764	T=0.236
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	C=0.693	T=0.307
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	C=0.731	T=0.269
HGDP-CEPH-db Supplement 1	Europe	Sub	320	C=0.656	T=0.344
HGDP-CEPH-db Supplement 1	Africa	Sub	242	C=0.926	T=0.074
HGDP-CEPH-db Supplement 1	America	Sub	216	C=0.319	T=0.681
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	C=0.99	T=0.01
HapMap	Global	Study-wide	1892	C=0.7833	T=0.2167
HapMap	American	Sub	770	C=0.708	T=0.292
HapMap	African	Sub	692	C=0.882	T=0.118
HapMap	Asian	Sub	254	C=0.783	T=0.217
HapMap	Europe	Sub	176	C=0.727	T=0.273
Korean Genome Project	KOREAN	Study-wide	1832	C=0.7838	T=0.2162
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.604	T=0.396
PharmGKB Aggregated	Global	Study-wide	876	C=0.604	T=0.396
PharmGKB Aggregated	PA150663173	Sub	876	C=0.604	T=0.396
CNV burdens in cranial meningiomas	Global	Study-wide	790	C=0.761	T=0.239
CNV burdens in cranial meningiomas	CRM	Sub	790	C=0.761	T=0.239
Northern Sweden	ACPOP	Study-wide	600	C=0.577	T=0.423
SGDP_PRJ	Global	Study-wide	252	C=0.381	T=0.619
Qatari	Global	Study-wide	216	C=0.833	T=0.167
A Vietnamese Genetic Variation Database	Global	Study-wide	214	C=0.813	T=0.187
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	82	C=0.78	T=0.22
The Danish reference pan genome	Danish	Study-wide	40	C=0.60	T=0.40
Siberian	Global	Study-wide	26	C=0.42	T=0.58

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 12	NC_000012.12:g.57109992C>T
GRCh37.p13 chr 12	NC_000012.11:g.57503775C>T
STAT6 RefSeqGene (LRG_1369)	NG_021272.2:g.27148G>A

Gene: STAT6, signal transducer and activator of transcription 6 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
STAT6 transcript variant 1	NM_001178078.2:c.-22+1118… NM_001178078.2:c.-22+1118G>A	N/A	Intron Variant
STAT6 transcript variant 3	NM_001178079.2:c.-22+85G>A	N/A	Intron Variant
STAT6 transcript variant 4	NM_001178080.2:c.-215+113… NM_001178080.2:c.-215+1137G>A	N/A	Intron Variant
STAT6 transcript variant 5	NM_001178081.2:c.-76+1137… NM_001178081.2:c.-76+1137G>A	N/A	Intron Variant
STAT6 transcript variant 2	NM_003153.5:c.-22+1137G>A	N/A	Intron Variant
STAT6 transcript variant 6	NR_033659.2:n.	N/A	Intron Variant
STAT6 transcript variant X1	XM_047429473.1:c.-22+85G>A	N/A	Intron Variant
STAT6 transcript variant X3	XM_047429475.1:c.-22+51G>A	N/A	Intron Variant
STAT6 transcript variant X4	XM_047429476.1:c.-22+1137… XM_047429476.1:c.-22+1137G>A	N/A	Intron Variant
STAT6 transcript variant X2	XM_047429474.1:c.-73=	N/A	5 Prime UTR Variant
STAT6 transcript variant X5	XM_047429477.1:c.	N/A	Genic Upstream Transcript Variant

Gene: LOC124902946, uncharacterized LOC124902946 (plus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
LOC124902946 transcript	XR_007063334.1:n.	N/A	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.

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	C=	T
GRCh38.p14 chr 12	NC_000012.12:g.57109992=	NC_000012.12:g.57109992C>T
GRCh37.p13 chr 12	NC_000012.11:g.57503775=	NC_000012.11:g.57503775C>T
STAT6 RefSeqGene (LRG_1369)	NG_021272.2:g.27148=	NG_021272.2:g.27148G>A
STAT6 transcript variant X2	XM_047429474.1:c.-73=	XM_047429474.1:c.-73G>A
STAT6 transcript variant 1	NM_001178078.1:c.-22+1118=	NM_001178078.1:c.-22+1118G>A
STAT6 transcript variant 1	NM_001178078.2:c.-22+1118=	NM_001178078.2:c.-22+1118G>A
STAT6 transcript variant 3	NM_001178079.1:c.-22+85=	NM_001178079.1:c.-22+85G>A
STAT6 transcript variant 3	NM_001178079.2:c.-22+85=	NM_001178079.2:c.-22+85G>A
STAT6 transcript variant 4	NM_001178080.1:c.-215+1137=	NM_001178080.1:c.-215+1137G>A
STAT6 transcript variant 4	NM_001178080.2:c.-215+1137=	NM_001178080.2:c.-215+1137G>A
STAT6 transcript variant 5	NM_001178081.1:c.-76+1137=	NM_001178081.1:c.-76+1137G>A
STAT6 transcript variant 5	NM_001178081.2:c.-76+1137=	NM_001178081.2:c.-76+1137G>A
STAT6 transcript variant 2	NM_003153.4:c.-22+1137=	NM_003153.4:c.-22+1137G>A
STAT6 transcript variant 2	NM_003153.5:c.-22+1137=	NM_003153.5:c.-22+1137G>A
STAT6 transcript variant X1	XM_047429473.1:c.-22+85=	XM_047429473.1:c.-22+85G>A
STAT6 transcript variant X3	XM_047429475.1:c.-22+51=	XM_047429475.1:c.-22+51G>A
STAT6 transcript variant X4	XM_047429476.1:c.-22+1137=	XM_047429476.1:c.-22+1137G>A

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#.

134 SubSNP, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	KWOK	ss223750	Jul 12, 2000 (79)
2	KWOK	ss1181276	Oct 05, 2000 (87)
3	KWOK	ss1187100	Oct 05, 2000 (87)
4	KWOK	ss1280832	Oct 05, 2000 (87)
5	KWOK	ss1280889	Oct 05, 2000 (87)
6	KWOK	ss1865907	Oct 18, 2000 (87)
7	KWOK	ss1868239	Oct 18, 2000 (87)
8	KWOK	ss1975918	Oct 18, 2000 (87)
9	KWOK	ss1975958	Oct 18, 2000 (87)
10	YUSUKE	ss2990887	Jun 15, 2001 (96)
11	SC_JCM	ss4023058	Sep 28, 2001 (100)
12	PGA-UW-FHCRC	ss4250906	Jan 04, 2002 (102)
13	SC_SNP	ss15835093	Feb 27, 2004 (120)
14	PERLEGEN	ss24458604	Sep 20, 2004 (123)
15	ABI	ss38951968	Mar 13, 2006 (126)
16	PGA-UW-FHCRC	ss52088785	Oct 13, 2006 (127)
17	ILLUMINA	ss66673388	Nov 29, 2006 (127)
18	ILLUMINA	ss67146344	Nov 29, 2006 (127)
19	ILLUMINA	ss67488192	Nov 29, 2006 (127)
20	PERLEGEN	ss69109982	May 16, 2007 (127)
21	ILLUMINA	ss70447924	May 16, 2007 (127)
22	ILLUMINA	ss70639144	May 26, 2008 (130)
23	ILLUMINA	ss71190233	May 16, 2007 (127)
24	ILLUMINA	ss75901047	Dec 06, 2007 (129)
25	HGSV	ss77148276	Dec 06, 2007 (129)
26	KRIBB_YJKIM	ss83374701	Dec 16, 2007 (130)
27	BGI	ss103050723	Dec 01, 2009 (131)
28	PHARMGKB_PHAT	ss105107308	Feb 06, 2009 (130)
29	SNP500CANCER	ss105440348	Feb 06, 2009 (130)
30	1000GENOMES	ss111987456	Jan 25, 2009 (130)
31	ILLUMINA	ss121774096	Dec 01, 2009 (131)
32	ILLUMINA	ss153549677	Dec 01, 2009 (131)
33	GMI	ss157512910	Dec 01, 2009 (131)
34	ILLUMINA	ss159291834	Dec 01, 2009 (131)
35	COMPLETE_GENOMICS	ss168351408	Jul 04, 2010 (132)
36	ILLUMINA	ss170707969	Jul 04, 2010 (132)
37	ILLUMINA	ss172615338	Jul 04, 2010 (132)
38	COMPLETE_GENOMICS	ss175138834	Jul 04, 2010 (132)
39	BCM-HGSC-SUB	ss208166156	Jul 04, 2010 (132)
40	1000GENOMES	ss225770764	Jul 14, 2010 (132)
41	1000GENOMES	ss235947691	Jul 15, 2010 (132)
42	1000GENOMES	ss242504743	Jul 15, 2010 (132)
43	ILLUMINA	ss244280532	Jul 04, 2010 (132)
44	GMI	ss281410463	May 04, 2012 (137)
45	GMI	ss286567160	Apr 25, 2013 (138)
46	PJP	ss291257985	May 09, 2011 (134)
47	ILLUMINA	ss410909011	Sep 17, 2011 (135)
48	EXOME_CHIP	ss491469932	May 04, 2012 (137)
49	ILLUMINA	ss536905634	Sep 08, 2015 (146)
50	TISHKOFF	ss563187413	Apr 25, 2013 (138)
51	SSMP	ss658746756	Apr 25, 2013 (138)
52	ILLUMINA	ss780682213	Sep 08, 2015 (146)
53	ILLUMINA	ss783355556	Sep 08, 2015 (146)
54	ILLUMINA	ss825416657	Jul 19, 2016 (147)
55	ILLUMINA	ss832803941	Jul 13, 2019 (153)
56	EVA-GONL	ss989570708	Aug 21, 2014 (142)
57	JMKIDD_LAB	ss1078486938	Aug 21, 2014 (142)
58	1000GENOMES	ss1345168087	Aug 21, 2014 (142)
59	DDI	ss1426944024	Apr 01, 2015 (144)
60	EVA_GENOME_DK	ss1576304589	Apr 01, 2015 (144)
61	EVA_DECODE	ss1599244230	Apr 01, 2015 (144)
62	EVA_UK10K_ALSPAC	ss1628666564	Apr 01, 2015 (144)
63	EVA_UK10K_TWINSUK	ss1671660597	Apr 01, 2015 (144)
64	EVA_SVP	ss1713330493	Apr 01, 2015 (144)
65	ILLUMINA	ss1752074527	Sep 08, 2015 (146)
66	ILLUMINA	ss1917875440	Feb 12, 2016 (147)
67	WEILL_CORNELL_DGM	ss1932936229	Feb 12, 2016 (147)
68	ILLUMINA	ss1946341052	Feb 12, 2016 (147)
69	ILLUMINA	ss1959439475	Feb 12, 2016 (147)
70	GENOMED	ss1967597392	Jul 19, 2016 (147)
71	JJLAB	ss2027217815	Sep 14, 2016 (149)
72	USC_VALOUEV	ss2155559109	Dec 20, 2016 (150)
73	HUMAN_LONGEVITY	ss2190097864	Dec 20, 2016 (150)
74	SYSTEMSBIOZJU	ss2628090295	Nov 08, 2017 (151)
75	ILLUMINA	ss2632964020	Nov 08, 2017 (151)
76	ILLUMINA	ss2632964021	Nov 08, 2017 (151)
77	GRF	ss2699903985	Nov 08, 2017 (151)
78	GNOMAD	ss2910950012	Nov 08, 2017 (151)
79	AFFY	ss2984981165	Nov 08, 2017 (151)
80	SWEGEN	ss3009753249	Nov 08, 2017 (151)
81	ILLUMINA	ss3021435960	Nov 08, 2017 (151)
82	BIOINF_KMB_FNS_UNIBA	ss3027417698	Nov 08, 2017 (151)
83	CSHL	ss3350081350	Nov 08, 2017 (151)
84	ILLUMINA	ss3626887583	Oct 12, 2018 (152)
85	ILLUMINA	ss3626887584	Oct 12, 2018 (152)
86	ILLUMINA	ss3634507556	Oct 12, 2018 (152)
87	ILLUMINA	ss3637965863	Oct 12, 2018 (152)
88	ILLUMINA	ss3638996235	Oct 12, 2018 (152)
89	ILLUMINA	ss3639500350	Oct 12, 2018 (152)
90	ILLUMINA	ss3640214889	Oct 12, 2018 (152)
91	ILLUMINA	ss3642959246	Oct 12, 2018 (152)
92	ILLUMINA	ss3644594028	Oct 12, 2018 (152)
93	ILLUMINA	ss3651813834	Oct 12, 2018 (152)
94	ILLUMINA	ss3653751122	Oct 12, 2018 (152)
95	EGCUT_WGS	ss3677021130	Jul 13, 2019 (153)
96	EVA_DECODE	ss3693745220	Jul 13, 2019 (153)
97	ILLUMINA	ss3725329705	Jul 13, 2019 (153)
98	ACPOP	ss3739054746	Jul 13, 2019 (153)
99	ILLUMINA	ss3744397465	Jul 13, 2019 (153)
100	ILLUMINA	ss3744808227	Jul 13, 2019 (153)
101	EVA	ss3750524776	Jul 13, 2019 (153)
102	PAGE_CC	ss3771695028	Jul 13, 2019 (153)
103	ILLUMINA	ss3772307667	Jul 13, 2019 (153)
104	PACBIO	ss3787237025	Jul 13, 2019 (153)
105	PACBIO	ss3792336633	Jul 13, 2019 (153)
106	PACBIO	ss3797219400	Jul 13, 2019 (153)
107	KHV_HUMAN_GENOMES	ss3815855150	Jul 13, 2019 (153)
108	EVA	ss3833141621	Apr 27, 2020 (154)
109	EVA	ss3840140313	Apr 27, 2020 (154)
110	EVA	ss3845626954	Apr 27, 2020 (154)
111	HGDP	ss3847451842	Apr 27, 2020 (154)
112	SGDP_PRJ	ss3878353314	Apr 27, 2020 (154)
113	KRGDB	ss3927001559	Apr 27, 2020 (154)
114	KOGIC	ss3972020011	Apr 27, 2020 (154)
115	EVA	ss3984667604	Apr 27, 2021 (155)
116	EVA	ss3985593074	Apr 27, 2021 (155)
117	EVA	ss4017591097	Apr 27, 2021 (155)
118	TOPMED	ss4919637725	Apr 27, 2021 (155)
119	TOMMO_GENOMICS	ss5206504329	Apr 27, 2021 (155)
120	1000G_HIGH_COVERAGE	ss5290946177	Oct 16, 2022 (156)
121	EVA	ss5315623435	Oct 16, 2022 (156)
122	EVA	ss5405878737	Oct 16, 2022 (156)
123	HUGCELL_USP	ss5485681163	Oct 16, 2022 (156)
124	EVA	ss5510715705	Oct 16, 2022 (156)
125	1000G_HIGH_COVERAGE	ss5588497005	Oct 16, 2022 (156)
126	SANFORD_IMAGENETICS	ss5624302659	Oct 16, 2022 (156)
127	SANFORD_IMAGENETICS	ss5653229735	Oct 16, 2022 (156)
128	TOMMO_GENOMICS	ss5756353274	Oct 16, 2022 (156)
129	YY_MCH	ss5813331080	Oct 16, 2022 (156)
130	EVA	ss5838017195	Oct 16, 2022 (156)
131	EVA	ss5847672222	Oct 16, 2022 (156)
132	EVA	ss5850397264	Oct 16, 2022 (156)
133	EVA	ss5904543775	Oct 16, 2022 (156)
134	EVA	ss5944592088	Oct 16, 2022 (156)
135	1000Genomes	NC_000012.11 - 57503775	Oct 12, 2018 (152)
136	1000Genomes_30x	NC_000012.12 - 57109992	Oct 16, 2022 (156)
137	The Avon Longitudinal Study of Parents and Children	NC_000012.11 - 57503775	Oct 12, 2018 (152)
138	Genetic variation in the Estonian population	NC_000012.11 - 57503775	Oct 12, 2018 (152)
139	The Danish reference pan genome	NC_000012.11 - 57503775	Apr 27, 2020 (154)
140	gnomAD - Genomes	NC_000012.12 - 57109992	Apr 27, 2021 (155)
141	Genome of the Netherlands Release 5	NC_000012.11 - 57503775	Apr 27, 2020 (154)
142	HGDP-CEPH-db Supplement 1	NC_000012.10 - 55790042	Apr 27, 2020 (154)
143	HapMap	NC_000012.12 - 57109992	Apr 27, 2020 (154)
144	KOREAN population from KRGDB	NC_000012.11 - 57503775	Apr 27, 2020 (154)
145	Korean Genome Project	NC_000012.12 - 57109992	Apr 27, 2020 (154)
146	Northern Sweden	NC_000012.11 - 57503775	Jul 13, 2019 (153)
147	The PAGE Study	NC_000012.12 - 57109992	Jul 13, 2019 (153)
148	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000012.11 - 57503775	Apr 27, 2021 (155)
149	CNV burdens in cranial meningiomas	NC_000012.11 - 57503775	Apr 27, 2021 (155)
150	PharmGKB Aggregated	NC_000012.12 - 57109992	Apr 27, 2020 (154)
151	Qatari	NC_000012.11 - 57503775	Apr 27, 2020 (154)
152	SGDP_PRJ	NC_000012.11 - 57503775	Apr 27, 2020 (154)
153	Siberian	NC_000012.11 - 57503775	Apr 27, 2020 (154)
154	8.3KJPN	NC_000012.11 - 57503775	Apr 27, 2021 (155)
155	14KJPN	NC_000012.12 - 57109992	Oct 16, 2022 (156)
156	TopMed	NC_000012.12 - 57109992	Apr 27, 2021 (155)
157	UK 10K study - Twins	NC_000012.11 - 57503775	Oct 12, 2018 (152)
158	A Vietnamese Genetic Variation Database	NC_000012.11 - 57503775	Jul 13, 2019 (153)
159	ALFA	NC_000012.12 - 57109992	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)
rs840314	Oct 18, 2000 (87)
rs841719	Oct 18, 2000 (87)
rs864549	Oct 18, 2000 (87)
rs864564	Oct 18, 2000 (87)
rs17450135	Oct 08, 2004 (123)
rs61135047	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss77148276, ss3638996235, ss3639500350	NC_000012.9:55790041:C:T	NC_000012.12:57109991:C:T	(self)
129734, ss111987456, ss168351408, ss175138834, ss208166156, ss281410463, ss286567160, ss291257985, ss825416657, ss1599244230, ss1713330493, ss3642959246, ss3847451842	NC_000012.10:55790041:C:T	NC_000012.12:57109991:C:T	(self)
57922361, 32158912, 22759378, 2977443, 14348926, 34178953, 12339611, 819001, 217097, 14978159, 30370294, 8075463, 64473636, 32158912, 7138115, ss225770764, ss235947691, ss242504743, ss491469932, ss536905634, ss563187413, ss658746756, ss780682213, ss783355556, ss832803941, ss989570708, ss1078486938, ss1345168087, ss1426944024, ss1576304589, ss1628666564, ss1671660597, ss1752074527, ss1917875440, ss1932936229, ss1946341052, ss1959439475, ss1967597392, ss2027217815, ss2155559109, ss2628090295, ss2632964020, ss2632964021, ss2699903985, ss2910950012, ss2984981165, ss3009753249, ss3021435960, ss3350081350, ss3626887583, ss3626887584, ss3634507556, ss3637965863, ss3640214889, ss3644594028, ss3651813834, ss3653751122, ss3677021130, ss3739054746, ss3744397465, ss3744808227, ss3750524776, ss3772307667, ss3787237025, ss3792336633, ss3797219400, ss3833141621, ss3840140313, ss3878353314, ss3927001559, ss3984667604, ss3985593074, ss4017591097, ss5206504329, ss5315623435, ss5405878737, ss5510715705, ss5624302659, ss5653229735, ss5838017195, ss5847672222, ss5944592088	NC_000012.11:57503774:C:T	NC_000012.12:57109991:C:T	(self)
76022940, 408476125, 823410, 28398012, 916497, 2880, 90190378, 135183382, 4777012171, ss2190097864, ss3027417698, ss3693745220, ss3725329705, ss3771695028, ss3815855150, ss3845626954, ss3972020011, ss4919637725, ss5290946177, ss5485681163, ss5588497005, ss5756353274, ss5813331080, ss5850397264, ss5904543775	NC_000012.12:57109991:C:T	NC_000012.12:57109991:C:T	(self)
ss15835093	NT_029419.10:19647080:C:T	NC_000012.12:57109991:C:T	(self)
ss223750, ss1181276, ss1187100, ss1280832, ss1280889, ss1865907, ss1868239, ss1975918, ss1975958, ss2990887, ss4023058, ss4250906, ss24458604, ss38951968, ss52088785, ss66673388, ss67146344, ss67488192, ss69109982, ss70447924, ss70639144, ss71190233, ss75901047, ss83374701, ss103050723, ss105107308, ss105440348, ss121774096, ss153549677, ss157512910, ss159291834, ss170707969, ss172615338, ss244280532, ss410909011	NT_029419.12:19647080:C:T	NC_000012.12:57109991:C:T	(self)

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

14 citations for rs167769

PMID	Title	Author	Year	Journal
17705862	Optimization of candidate-gene SNP-genotyping by flexible oligonucleotide microarrays; analyzing variations in immune regulator genes of hay-fever samples.	Pullat J et al.	2007	BMC genomics
20046407	An association study of the signal transducer and activator of transcription 6 gene with periodic psychosis.	Kawashige S et al.	2008	Psychiatry investigation
20208534	Common variants at 5q22 associate with pediatric eosinophilic esophagitis.	Rothenberg ME et al.	2010	Nature genetics
20860503	A large-scale, consortium-based genomewide association study of asthma.	Moffatt MF et al.	2010	The New England journal of medicine
21197301	Recent advances in the use of opioids for cancer pain.	Droney J et al.	2009	Journal of pain research
21762972	The signal transducer and activator of transcription 6 gene (STAT6) increases the propensity of patients with atopic dermatitis toward disseminated viral skin infections.	Howell MD et al.	2011	The Journal of allergy and clinical immunology
22075330	A genome-wide association study of plasma total IgE concentrations in the Framingham Heart Study.	Granada M et al.	2012	The Journal of allergy and clinical immunology
22197932	Meta-analysis of genome-wide association studies identifies three new risk loci for atopic dermatitis.	Paternoster L et al.	2011	Nature genetics
24058746	Wheezing and itching: The requirement for STAT proteins in allergic inflammation.	Glosson NL et al.	2012	JAK-STAT
26048407	Association of STAT6 genetic variants with childhood atopic dermatitis in Taiwanese population.	Lee YL et al.	2015	Journal of dermatological science
27636225	An Expert Review of Pharmacogenomics of Sickle Cell Disease Therapeutics: Not Yet Ready for Global Precision Medicine.	Mnika K et al.	2016	Omics
32283835	Polymorphisms in Interleukin 13 Signaling and Interacting Genes Predict Advanced Fibrosis and Hepatocellular Carcinoma Development in Non-Alcoholic Steatohepatitis.	El-Derany MO et al.	2020	Biology
32798708	STAT6 Variants Associate With Relapse of Eosinophilic Esophagitis in Patients Receiving Long-term Proton Pump Inhibitor Therapy.	Mougey EB et al.	2021	Clinical gastroenterology and hepatology
33916844	IL15RA and SMAD3 Genetic Variants Predict Overall Survival in Metastatic Colorectal Cancer Patients Treated with FOLFIRI Therapy: A New Paradigm.	De Mattia E et al.	2021	Cancers

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

rs167769