Name: rs12730735
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.

rs12730735

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:113838835 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: T>A / T>C
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.206895 (54763/264690, TOPMED)
C=0.210589 (29493/140050, GnomAD)
C=0.07082 (2001/28256, 14KJPN) (+ 17 more)
C=0.23931 (5360/22398, ALFA)
C=0.07339 (1230/16760, 8.3KJPN)
C=0.1925 (1233/6404, 1000G_30x)
C=0.1949 (976/5008, 1000G)
C=0.2297 (1029/4480, Estonian)
C=0.2974 (1146/3854, ALSPAC)
C=0.2896 (1074/3708, TWINSUK)
C=0.0866 (253/2922, KOREAN)
C=0.0660 (121/1832, Korea1K)
C=0.279 (278/998, GoNL)
C=0.095 (74/780, PRJEB37584)
C=0.248 (149/600, NorthernSweden)
C=0.296 (64/216, Qatari)
C=0.199 (43/216, Vietnamese)
T=0.387 (79/204, SGDP_PRJ)
C=0.33 (13/40, GENOME_DK)
T=0.47 (14/30, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: AP4B1-AS1 : Intron Variant
PTPN22 : Intron Variant
Publications: 6 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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	22398	T=0.76069	A=0.00000, C=0.23931
European	Sub	15136	T=0.72674	A=0.00000, C=0.27326
African	Sub	3178	T=0.9534	A=0.0000, C=0.0466
African Others	Sub	112	T=1.000	A=0.000, C=0.000
African American	Sub	3066	T=0.9517	A=0.0000, C=0.0483
Asian	Sub	134	T=0.858	A=0.000, C=0.142
East Asian	Sub	104	T=0.885	A=0.000, C=0.115
Other Asian	Sub	30	T=0.77	A=0.00, C=0.23
Latin American 1	Sub	162	T=0.747	A=0.000, C=0.253
Latin American 2	Sub	644	T=0.778	A=0.000, C=0.222
South Asian	Sub	114	T=0.553	A=0.000, C=0.447
Other	Sub	3030	T=0.7287	A=0.0000, C=0.2713

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	T=0.793105	C=0.206895
gnomAD - Genomes	Global	Study-wide	140050	T=0.789411	C=0.210589
gnomAD - Genomes	European	Sub	75824	T=0.71137	C=0.28863
gnomAD - Genomes	African	Sub	41986	T=0.93807	C=0.06193
gnomAD - Genomes	American	Sub	13640	T=0.76584	C=0.23416
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	T=0.7020	C=0.2980
gnomAD - Genomes	East Asian	Sub	3128	T=0.8999	C=0.1001
gnomAD - Genomes	Other	Sub	2150	T=0.7623	C=0.2377
14KJPN	JAPANESE	Study-wide	28256	T=0.92918	C=0.07082
Allele Frequency Aggregator	Total	Global	22398	T=0.76069	A=0.00000, C=0.23931
Allele Frequency Aggregator	European	Sub	15136	T=0.72674	A=0.00000, C=0.27326
Allele Frequency Aggregator	African	Sub	3178	T=0.9534	A=0.0000, C=0.0466
Allele Frequency Aggregator	Other	Sub	3030	T=0.7287	A=0.0000, C=0.2713
Allele Frequency Aggregator	Latin American 2	Sub	644	T=0.778	A=0.000, C=0.222
Allele Frequency Aggregator	Latin American 1	Sub	162	T=0.747	A=0.000, C=0.253
Allele Frequency Aggregator	Asian	Sub	134	T=0.858	A=0.000, C=0.142
Allele Frequency Aggregator	South Asian	Sub	114	T=0.553	A=0.000, C=0.447
8.3KJPN	JAPANESE	Study-wide	16760	T=0.92661	C=0.07339
1000Genomes_30x	Global	Study-wide	6404	T=0.8075	C=0.1925
1000Genomes_30x	African	Sub	1786	T=0.9922	C=0.0078
1000Genomes_30x	Europe	Sub	1266	T=0.6746	C=0.3254
1000Genomes_30x	South Asian	Sub	1202	T=0.5932	C=0.4068
1000Genomes_30x	East Asian	Sub	1170	T=0.9034	C=0.0966
1000Genomes_30x	American	Sub	980	T=0.791	C=0.209
1000Genomes	Global	Study-wide	5008	T=0.8051	C=0.1949
1000Genomes	African	Sub	1322	T=0.9909	C=0.0091
1000Genomes	East Asian	Sub	1008	T=0.9058	C=0.0942
1000Genomes	Europe	Sub	1006	T=0.6730	C=0.3270
1000Genomes	South Asian	Sub	978	T=0.590	C=0.410
1000Genomes	American	Sub	694	T=0.800	C=0.200
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.7703	C=0.2297
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.7026	C=0.2974
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.7104	C=0.2896
KOREAN population from KRGDB	KOREAN	Study-wide	2922	T=0.9134	C=0.0866
Korean Genome Project	KOREAN	Study-wide	1832	T=0.9340	C=0.0660
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.721	C=0.279
CNV burdens in cranial meningiomas	Global	Study-wide	780	T=0.905	C=0.095
CNV burdens in cranial meningiomas	CRM	Sub	780	T=0.905	C=0.095
Northern Sweden	ACPOP	Study-wide	600	T=0.752	C=0.248
Qatari	Global	Study-wide	216	T=0.704	C=0.296
A Vietnamese Genetic Variation Database	Global	Study-wide	216	T=0.801	C=0.199
SGDP_PRJ	Global	Study-wide	204	T=0.387	C=0.613
The Danish reference pan genome	Danish	Study-wide	40	T=0.68	C=0.33
Siberian	Global	Study-wide	30	T=0.47	C=0.53

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 1	NC_000001.11:g.113838835T>A
GRCh38.p14 chr 1	NC_000001.11:g.113838835T>C
GRCh37.p13 chr 1	NC_000001.10:g.114381457T>A
GRCh37.p13 chr 1	NC_000001.10:g.114381457T>C
PTPN22 RefSeqGene	NG_011432.1:g.37919A>T
PTPN22 RefSeqGene	NG_011432.1:g.37919A>G

Gene: PTPN22, protein tyrosine phosphatase non-receptor type 22 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PTPN22 transcript variant 3	NM_001193431.2:c.916-215A… NM_001193431.2:c.916-215A>T	N/A	Intron Variant
PTPN22 transcript variant 4	NM_001308297.1:c.844-215A… NM_001308297.1:c.844-215A>T	N/A	Intron Variant
PTPN22 transcript variant 2	NM_012411.5:c.751-215A>T	N/A	Intron Variant
PTPN22 transcript variant 1	NM_015967.8:c.916-215A>T	N/A	Intron Variant
PTPN22 transcript variant X1	XM_011541221.2:c.838-215A… XM_011541221.2:c.838-215A>T	N/A	Intron Variant
PTPN22 transcript variant X2	XM_011541222.2:c.916-215A… XM_011541222.2:c.916-215A>T	N/A	Intron Variant
PTPN22 transcript variant X6	XM_011541223.3:c.916-215A… XM_011541223.3:c.916-215A>T	N/A	Intron Variant
PTPN22 transcript variant X9	XM_011541225.3:c.844-215A… XM_011541225.3:c.844-215A>T	N/A	Intron Variant
PTPN22 transcript variant X7	XM_017001005.3:c.571-215A… XM_017001005.3:c.571-215A>T	N/A	Intron Variant
PTPN22 transcript variant X8	XM_017001006.2:c.916-192A… XM_017001006.2:c.916-192A>T	N/A	Intron Variant
PTPN22 transcript variant X3	XM_047417630.1:c.766-215A… XM_047417630.1:c.766-215A>T	N/A	Intron Variant
PTPN22 transcript variant X4	XM_047417631.1:c.844-215A… XM_047417631.1:c.844-215A>T	N/A	Intron Variant
PTPN22 transcript variant X5	XM_047417632.1:c.838-215A… XM_047417632.1:c.838-215A>T	N/A	Intron Variant

Gene: AP4B1-AS1, AP4B1 antisense RNA 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
AP4B1-AS1 transcript variant 1	NR_125965.1:n.	N/A	Intron Variant
AP4B1-AS1 transcript variant 2	NR_037864.1:n.	N/A	Genic 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	T=	A	C
GRCh38.p14 chr 1	NC_000001.11:g.113838835=	NC_000001.11:g.113838835T>A	NC_000001.11:g.113838835T>C
GRCh37.p13 chr 1	NC_000001.10:g.114381457=	NC_000001.10:g.114381457T>A	NC_000001.10:g.114381457T>C
PTPN22 RefSeqGene	NG_011432.1:g.37919=	NG_011432.1:g.37919A>T	NG_011432.1:g.37919A>G
PTPN22 transcript variant 3	NM_001193431.1:c.916-215=	NM_001193431.1:c.916-215A>T	NM_001193431.1:c.916-215A>G
PTPN22 transcript variant 3	NM_001193431.2:c.916-215=	NM_001193431.2:c.916-215A>T	NM_001193431.2:c.916-215A>G
PTPN22 transcript variant 4	NM_001308297.1:c.844-215=	NM_001308297.1:c.844-215A>T	NM_001308297.1:c.844-215A>G
PTPN22 transcript variant 2	NM_012411.4:c.751-215=	NM_012411.4:c.751-215A>T	NM_012411.4:c.751-215A>G
PTPN22 transcript variant 2	NM_012411.5:c.751-215=	NM_012411.5:c.751-215A>T	NM_012411.5:c.751-215A>G
PTPN22 transcript variant 1	NM_015967.5:c.916-215=	NM_015967.5:c.916-215A>T	NM_015967.5:c.916-215A>G
PTPN22 transcript variant 1	NM_015967.8:c.916-215=	NM_015967.8:c.916-215A>T	NM_015967.8:c.916-215A>G
PTPN22 transcript variant X1	XM_005270738.1:c.844-215=	XM_005270738.1:c.844-215A>T	XM_005270738.1:c.844-215A>G
PTPN22 transcript variant X1	XM_011541221.2:c.838-215=	XM_011541221.2:c.838-215A>T	XM_011541221.2:c.838-215A>G
PTPN22 transcript variant X2	XM_011541222.2:c.916-215=	XM_011541222.2:c.916-215A>T	XM_011541222.2:c.916-215A>G
PTPN22 transcript variant X6	XM_011541223.3:c.916-215=	XM_011541223.3:c.916-215A>T	XM_011541223.3:c.916-215A>G
PTPN22 transcript variant X9	XM_011541225.3:c.844-215=	XM_011541225.3:c.844-215A>T	XM_011541225.3:c.844-215A>G
PTPN22 transcript variant X7	XM_017001005.3:c.571-215=	XM_017001005.3:c.571-215A>T	XM_017001005.3:c.571-215A>G
PTPN22 transcript variant X8	XM_017001006.2:c.916-192=	XM_017001006.2:c.916-192A>T	XM_017001006.2:c.916-192A>G
PTPN22 transcript variant X3	XM_047417630.1:c.766-215=	XM_047417630.1:c.766-215A>T	XM_047417630.1:c.766-215A>G
PTPN22 transcript variant X4	XM_047417631.1:c.844-215=	XM_047417631.1:c.844-215A>T	XM_047417631.1:c.844-215A>G
PTPN22 transcript variant X5	XM_047417632.1:c.838-215=	XM_047417632.1:c.838-215A>T	XM_047417632.1:c.838-215A>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#.

68 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SSAHASNP	ss20468698	Apr 05, 2004 (121)
2	ABI	ss44041829	Mar 15, 2006 (126)
3	JDRF_WT_DIL	ss73688594	Dec 06, 2007 (129)
4	CGM_KYOTO	ss76864634	Dec 06, 2007 (129)
5	HUMANGENOME_JCVI	ss99242290	Feb 06, 2009 (130)
6	BGI	ss106596200	Feb 06, 2009 (130)
7	1000GENOMES	ss108537698	Jan 23, 2009 (130)
8	ENSEMBL	ss139271939	Dec 01, 2009 (131)
9	ILLUMINA	ss161038688	Dec 01, 2009 (131)
10	COMPLETE_GENOMICS	ss165060276	Jul 04, 2010 (132)
11	COMPLETE_GENOMICS	ss167019548	Jul 04, 2010 (132)
12	BUSHMAN	ss198955237	Jul 04, 2010 (132)
13	1000GENOMES	ss230698792	Jul 14, 2010 (132)
14	1000GENOMES	ss238355027	Jul 15, 2010 (132)
15	GMI	ss275984812	May 04, 2012 (137)
16	PJP	ss290602353	May 09, 2011 (134)
17	ILLUMINA	ss479386297	Sep 08, 2015 (146)
18	TISHKOFF	ss554595115	Apr 25, 2013 (138)
19	SSMP	ss648324285	Apr 25, 2013 (138)
20	EVA-GONL	ss975588484	Aug 21, 2014 (142)
21	JMKIDD_LAB	ss1068206252	Aug 21, 2014 (142)
22	1000GENOMES	ss1292502240	Aug 21, 2014 (142)
23	DDI	ss1425942606	Apr 01, 2015 (144)
24	EVA_GENOME_DK	ss1574334445	Apr 01, 2015 (144)
25	EVA_DECODE	ss1584969365	Apr 01, 2015 (144)
26	EVA_UK10K_ALSPAC	ss1601027360	Apr 01, 2015 (144)
27	EVA_UK10K_TWINSUK	ss1644021393	Apr 01, 2015 (144)
28	WEILL_CORNELL_DGM	ss1918788638	Feb 12, 2016 (147)
29	JJLAB	ss2019918729	Sep 14, 2016 (149)
30	ILLUMINA	ss2094847348	Dec 20, 2016 (150)
31	ILLUMINA	ss2094972808	Dec 20, 2016 (150)
32	USC_VALOUEV	ss2147937554	Dec 20, 2016 (150)
33	HUMAN_LONGEVITY	ss2165858046	Dec 20, 2016 (150)
34	GRF	ss2697867877	Nov 08, 2017 (151)
35	GNOMAD	ss2759760856	Nov 08, 2017 (151)
36	SWEGEN	ss2987467354	Nov 08, 2017 (151)
37	BIOINF_KMB_FNS_UNIBA	ss3023723912	Nov 08, 2017 (151)
38	CSHL	ss3343643179	Nov 08, 2017 (151)
39	ILLUMINA	ss3636022454	Oct 11, 2018 (152)
40	URBANLAB	ss3646756575	Oct 11, 2018 (152)
41	ILLUMINA	ss3651455503	Oct 11, 2018 (152)
42	EGCUT_WGS	ss3655556286	Jul 12, 2019 (153)
43	EVA_DECODE	ss3687565308	Jul 12, 2019 (153)
44	ACPOP	ss3727403740	Jul 12, 2019 (153)
45	EVA	ss3746693558	Jul 12, 2019 (153)
46	KHV_HUMAN_GENOMES	ss3799696263	Jul 12, 2019 (153)
47	EVA	ss3826379114	Apr 25, 2020 (154)
48	EVA	ss3836581251	Apr 25, 2020 (154)
49	EVA	ss3841989697	Apr 25, 2020 (154)
50	SGDP_PRJ	ss3849686036	Apr 25, 2020 (154)
51	KRGDB	ss3894784885	Apr 25, 2020 (154)
52	KOGIC	ss3945283219	Apr 25, 2020 (154)
53	EVA	ss3984463254	Apr 25, 2021 (155)
54	TOPMED	ss4464225577	Apr 25, 2021 (155)
55	TOMMO_GENOMICS	ss5145760886	Apr 25, 2021 (155)
56	1000G_HIGH_COVERAGE	ss5243670014	Oct 12, 2022 (156)
57	EVA	ss5321295191	Oct 12, 2022 (156)
58	HUGCELL_USP	ss5444587374	Oct 12, 2022 (156)
59	EVA	ss5506003018	Oct 12, 2022 (156)
60	1000G_HIGH_COVERAGE	ss5516694575	Oct 12, 2022 (156)
61	SANFORD_IMAGENETICS	ss5626332768	Oct 12, 2022 (156)
62	TOMMO_GENOMICS	ss5671053510	Oct 12, 2022 (156)
63	EVA	ss5800084130	Oct 12, 2022 (156)
64	YY_MCH	ss5800946884	Oct 12, 2022 (156)
65	EVA	ss5832507565	Oct 12, 2022 (156)
66	EVA	ss5849074975	Oct 12, 2022 (156)
67	EVA	ss5909870713	Oct 12, 2022 (156)
68	EVA	ss5938200540	Oct 12, 2022 (156)
69	1000Genomes	NC_000001.10 - 114381457	Oct 11, 2018 (152)
70	1000Genomes_30x	NC_000001.11 - 113838835	Oct 12, 2022 (156)
71	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 114381457	Oct 11, 2018 (152)
72	Genetic variation in the Estonian population	NC_000001.10 - 114381457	Oct 11, 2018 (152)
73	The Danish reference pan genome	NC_000001.10 - 114381457	Apr 25, 2020 (154)
74	gnomAD - Genomes	NC_000001.11 - 113838835	Apr 25, 2021 (155)
75	Genome of the Netherlands Release 5	NC_000001.10 - 114381457	Apr 25, 2020 (154)
76	KOREAN population from KRGDB	NC_000001.10 - 114381457	Apr 25, 2020 (154)
77	Korean Genome Project	NC_000001.11 - 113838835	Apr 25, 2020 (154)
78	Northern Sweden	NC_000001.10 - 114381457	Jul 12, 2019 (153)
79	CNV burdens in cranial meningiomas	NC_000001.10 - 114381457	Apr 25, 2021 (155)
80	Qatari	NC_000001.10 - 114381457	Apr 25, 2020 (154)
81	SGDP_PRJ	NC_000001.10 - 114381457	Apr 25, 2020 (154)
82	Siberian	NC_000001.10 - 114381457	Apr 25, 2020 (154)
83	8.3KJPN	NC_000001.10 - 114381457	Apr 25, 2021 (155)
84	14KJPN	NC_000001.11 - 113838835	Oct 12, 2022 (156)
85	TopMed	NC_000001.11 - 113838835	Apr 25, 2021 (155)
86	UK 10K study - Twins	NC_000001.10 - 114381457	Oct 11, 2018 (152)
87	A Vietnamese Genetic Variation Database	NC_000001.10 - 114381457	Jul 12, 2019 (153)
88	ALFA	NC_000001.11 - 113838835	Apr 25, 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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
7184014060	NC_000001.11:113838834:T:A	NC_000001.11:113838834:T:A	(self)
ss108537698, ss161038688, ss165060276, ss167019548, ss198955237, ss275984812, ss290602353, ss1584969365, ss2094847348	NC_000001.9:114182979:T:C	NC_000001.11:113838834:T:C	(self)
3280676, 1815023, 1294534, 1671941, 789283, 1962279, 688605, 12566, 830568, 1703016, 453908, 3730193, 1815023, 392936, ss230698792, ss238355027, ss479386297, ss554595115, ss648324285, ss975588484, ss1068206252, ss1292502240, ss1425942606, ss1574334445, ss1601027360, ss1644021393, ss1918788638, ss2019918729, ss2094972808, ss2147937554, ss2697867877, ss2759760856, ss2987467354, ss3343643179, ss3636022454, ss3651455503, ss3655556286, ss3727403740, ss3746693558, ss3826379114, ss3836581251, ss3849686036, ss3894784885, ss3984463254, ss5145760886, ss5321295191, ss5506003018, ss5626332768, ss5800084130, ss5832507565, ss5938200540	NC_000001.10:114381456:T:C	NC_000001.11:113838834:T:C	(self)
4220510, 23206380, 1661220, 4890614, 27831912, 7184014060, ss2165858046, ss3023723912, ss3646756575, ss3687565308, ss3799696263, ss3841989697, ss3945283219, ss4464225577, ss5243670014, ss5444587374, ss5516694575, ss5671053510, ss5800946884, ss5849074975, ss5909870713	NC_000001.11:113838834:T:C	NC_000001.11:113838834:T:C	(self)
ss20468698	NT_019273.16:5377404:T:C	NC_000001.11:113838834:T:C	(self)
ss44041829, ss73688594, ss76864634, ss99242290, ss106596200, ss139271939	NT_032977.9:84353374:T:C	NC_000001.11:113838834:T:C	(self)

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

6 citations for rs12730735

PMID	Title	Author	Year	Journal
16175503	PTPN22 genetic variation: evidence for multiple variants associated with rheumatoid arthritis.	Carlton VE et al.	2005	American journal of human genetics
18341666	Polymorphisms in the PTPN22 region are associated with psoriasis of early onset.	Smith RL et al.	2008	The British journal of dermatology
18466461	Meta-genetic association of rheumatoid arthritis and PTPN22 using PedGenie 2.1.	Curtin K et al.	2007	BMC proceedings
18466531	Case-control association analysis of rheumatoid arthritis with candidate genes using related cases.	Yoo YJ et al.	2007	BMC proceedings
18466535	Modeling the effect of PTPN22 in rheumatoid arthritis.	Bourgey M et al.	2007	BMC proceedings
18466575	Comparison of the power of haplotype-based versus single- and multilocus association methods for gene x environment (gene x sex) interactions and application to gene x smoking and gene x sex interactions in rheumatoid arthritis.	Dempfle A et al.	2007	BMC proceedings

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

rs12730735