Name: rs3194
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.

rs3194

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:148417173 (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: A>C / A>T
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.384408 (101749/264690, TOPMED)
C=0.441967 (63478/143626, ALFA)
C=0.357709 (50100/140058, GnomAD) (+ 16 more)
A=0.28449 (8039/28258, 14KJPN)
A=0.28303 (4743/16758, 8.3KJPN)
C=0.3896 (2495/6404, 1000G_30x)
C=0.3944 (1975/5008, 1000G)
C=0.3496 (1566/4480, Estonian)
C=0.4432 (1708/3854, ALSPAC)
C=0.4536 (1682/3708, TWINSUK)
A=0.2686 (787/2930, KOREAN)
C=0.3615 (681/1884, HapMap)
C=0.438 (437/998, GoNL)
C=0.453 (272/600, NorthernSweden)
A=0.273 (100/366, SGDP_PRJ)
C=0.431 (93/216, Qatari)
A=0.412 (89/216, Vietnamese)
A=0.39 (18/46, Siberian)
C=0.47 (19/40, GENOME_DK)

Clinical Significance: Reported in ClinVar
Gene : Consequence: CNTNAP2 : 3 Prime UTR Variant
LOC105375554 : 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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	143626	A=0.558033	C=0.441967, T=0.000000	0.324955	0.20889	0.466155	32
European	Sub	124388	A=0.550945	C=0.449055, T=0.000000	0.308824	0.206933	0.484243	16
African	Sub	6162	A=0.9150	C=0.0850, T=0.0000	0.841934	0.012009	0.146056	7
African Others	Sub	238	A=0.966	C=0.034, T=0.000	0.932773	0.0	0.067227	0
African American	Sub	5924	A=0.9129	C=0.0871, T=0.0000	0.838285	0.012492	0.149223	7
Asian	Sub	536	A=0.403	C=0.597, T=0.000	0.16791	0.36194	0.470149	0
East Asian	Sub	422	A=0.365	C=0.635, T=0.000	0.14218	0.412322	0.445498	0
Other Asian	Sub	114	A=0.544	C=0.456, T=0.000	0.263158	0.175439	0.561404	1
Latin American 1	Sub	648	A=0.625	C=0.375, T=0.000	0.419753	0.169753	0.410494	3
Latin American 2	Sub	5790	A=0.3349	C=0.6651, T=0.0000	0.123661	0.453886	0.422453	5
South Asian	Sub	130	A=0.715	C=0.285, T=0.000	0.584615	0.153846	0.261538	5
Other	Sub	5972	A=0.5569	C=0.4431, T=0.0000	0.320831	0.206966	0.472204	4

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	A=0.615592	C=0.384408
Allele Frequency Aggregator	Total	Global	143626	A=0.558033	C=0.441967, T=0.000000
Allele Frequency Aggregator	European	Sub	124388	A=0.550945	C=0.449055, T=0.000000
Allele Frequency Aggregator	African	Sub	6162	A=0.9150	C=0.0850, T=0.0000
Allele Frequency Aggregator	Other	Sub	5972	A=0.5569	C=0.4431, T=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	5790	A=0.3349	C=0.6651, T=0.0000
Allele Frequency Aggregator	Latin American 1	Sub	648	A=0.625	C=0.375, T=0.000
Allele Frequency Aggregator	Asian	Sub	536	A=0.403	C=0.597, T=0.000
Allele Frequency Aggregator	South Asian	Sub	130	A=0.715	C=0.285, T=0.000
gnomAD - Genomes	Global	Study-wide	140058	A=0.642291	C=0.357709
gnomAD - Genomes	European	Sub	75832	A=0.57523	C=0.42477
gnomAD - Genomes	African	Sub	41984	A=0.87438	C=0.12562
gnomAD - Genomes	American	Sub	13642	A=0.41138	C=0.58862
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	A=0.4958	C=0.5042
gnomAD - Genomes	East Asian	Sub	3124	A=0.3505	C=0.6495
gnomAD - Genomes	Other	Sub	2154	A=0.5910	C=0.4090
14KJPN	JAPANESE	Study-wide	28258	A=0.28449	C=0.71551
8.3KJPN	JAPANESE	Study-wide	16758	A=0.28303	C=0.71697
1000Genomes_30x	Global	Study-wide	6404	A=0.6104	C=0.3896
1000Genomes_30x	African	Sub	1786	A=0.9384	C=0.0616
1000Genomes_30x	Europe	Sub	1266	A=0.5592	C=0.4408
1000Genomes_30x	South Asian	Sub	1202	A=0.6364	C=0.3636
1000Genomes_30x	East Asian	Sub	1170	A=0.3453	C=0.6547
1000Genomes_30x	American	Sub	980	A=0.363	C=0.637
1000Genomes	Global	Study-wide	5008	A=0.6056	C=0.3944
1000Genomes	African	Sub	1322	A=0.9357	C=0.0643
1000Genomes	East Asian	Sub	1008	A=0.3452	C=0.6548
1000Genomes	Europe	Sub	1006	A=0.5636	C=0.4364
1000Genomes	South Asian	Sub	978	A=0.644	C=0.356
1000Genomes	American	Sub	694	A=0.362	C=0.638
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.6504	C=0.3496
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.5568	C=0.4432
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.5464	C=0.4536
KOREAN population from KRGDB	KOREAN	Study-wide	2930	A=0.2686	C=0.7314
HapMap	Global	Study-wide	1884	A=0.6385	C=0.3615
HapMap	American	Sub	766	A=0.535	C=0.465
HapMap	African	Sub	692	A=0.902	C=0.098
HapMap	Asian	Sub	252	A=0.290	C=0.710
HapMap	Europe	Sub	174	A=0.552	C=0.448
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.562	C=0.438
Northern Sweden	ACPOP	Study-wide	600	A=0.547	C=0.453
SGDP_PRJ	Global	Study-wide	366	A=0.273	C=0.727
Qatari	Global	Study-wide	216	A=0.569	C=0.431
A Vietnamese Genetic Variation Database	Global	Study-wide	216	A=0.412	C=0.588
Siberian	Global	Study-wide	46	A=0.39	C=0.61
The Danish reference pan genome	Danish	Study-wide	40	A=0.53	C=0.47

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 7	NC_000007.14:g.148417173A>C
GRCh38.p14 chr 7	NC_000007.14:g.148417173A>T
GRCh37.p13 chr 7	NC_000007.13:g.148114265A>C
GRCh37.p13 chr 7	NC_000007.13:g.148114265A>T
CNTNAP2 RefSeqGene	NG_007092.3:g.2306173A>C
CNTNAP2 RefSeqGene	NG_007092.3:g.2306173A>T
GRCh38.p14 chr 7 alt locus HSCHR7_3_CTG6	NT_187564.1:g.200768A>C
GRCh38.p14 chr 7 alt locus HSCHR7_3_CTG6	NT_187564.1:g.200768A>T

Gene: CNTNAP2, contactin associated protein 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CNTNAP2 transcript	NM_014141.6:c.*1557=	N/A	3 Prime UTR Variant
CNTNAP2 transcript variant X1	XM_017011950.3:c.	N/A	Genic Downstream Transcript Variant

Gene: LOC105375554, uncharacterized LOC105375554 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105375554 transcript variant X3	XR_928094.2:n.	N/A	Intron Variant
LOC105375554 transcript variant X1	XR_007060576.1:n.	N/A	Genic Upstream Transcript Variant
LOC105375554 transcript variant X2	XR_928093.3: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.

Allele: C (allele ID: 310114 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000281058.3	Pitt-Hopkins-like syndrome	Benign
RCV000338399.3	Cortical dysplasia-focal epilepsy syndrome	Benign
RCV001653717.2	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	A=	C	T
GRCh38.p14 chr 7	NC_000007.14:g.148417173=	NC_000007.14:g.148417173A>C	NC_000007.14:g.148417173A>T
GRCh37.p13 chr 7	NC_000007.13:g.148114265=	NC_000007.13:g.148114265A>C	NC_000007.13:g.148114265A>T
CNTNAP2 RefSeqGene	NG_007092.3:g.2306173=	NG_007092.3:g.2306173A>C	NG_007092.3:g.2306173A>T
CNTNAP2 transcript	NM_014141.6:c.*1557=	NM_014141.6:c.*1557A>C	NM_014141.6:c.*1557A>T
CNTNAP2 transcript	NM_014141.5:c.*1557=	NM_014141.5:c.*1557A>C	NM_014141.5:c.*1557A>T
GRCh38.p14 chr 7 alt locus HSCHR7_3_CTG6	NT_187564.1:g.200768=	NT_187564.1:g.200768A>C	NT_187564.1:g.200768A>T

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#.

113 SubSNP, 19 Frequency, 3 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	WIAF	ss3227	Sep 19, 2000 (36)
2	LEE	ss1547691	Oct 04, 2000 (86)
3	SC_JCM	ss3839335	Sep 28, 2001 (100)
4	LEE	ss4401680	May 29, 2002 (106)
5	LEE	ss4432661	May 29, 2002 (106)
6	CSHL-HAPMAP	ss17173770	Feb 27, 2004 (120)
7	CSHL-HAPMAP	ss19715784	Feb 27, 2004 (120)
8	CSHL-HAPMAP	ss20312592	Feb 27, 2004 (120)
9	SSAHASNP	ss22519319	Apr 05, 2004 (123)
10	SSAHASNP	ss22890922	Apr 05, 2004 (123)
11	ABI	ss44821712	Mar 13, 2006 (126)
12	ILLUMINA	ss65718455	Oct 15, 2006 (127)
13	ILLUMINA	ss74894116	Dec 06, 2007 (129)
14	HUMANGENOME_JCVI	ss98349634	Feb 04, 2009 (130)
15	BGI	ss104478707	Dec 01, 2009 (131)
16	KRIBB_YJKIM	ss119337242	Dec 01, 2009 (131)
17	ENSEMBL	ss139961285	Dec 01, 2009 (131)
18	ILLUMINA	ss160615679	Dec 01, 2009 (131)
19	COMPLETE_GENOMICS	ss167240323	Jul 04, 2010 (132)
20	ILLUMINA	ss173573306	Jul 04, 2010 (132)
21	BCM-HGSC-SUB	ss208155227	Jul 04, 2010 (132)
22	1000GENOMES	ss223403503	Jul 14, 2010 (132)
23	1000GENOMES	ss234218567	Jul 15, 2010 (132)
24	1000GENOMES	ss241119167	Jul 15, 2010 (132)
25	BL	ss254752282	May 09, 2011 (134)
26	GMI	ss279580796	May 04, 2012 (137)
27	GMI	ss285742361	Apr 25, 2013 (138)
28	PJP	ss293999256	May 09, 2011 (134)
29	ILLUMINA	ss480766609	May 04, 2012 (137)
30	ILLUMINA	ss480782425	May 04, 2012 (137)
31	ILLUMINA	ss481677153	Sep 08, 2015 (146)
32	ILLUMINA	ss485178030	May 04, 2012 (137)
33	ILLUMINA	ss537167407	Sep 08, 2015 (146)
34	TISHKOFF	ss560387504	Apr 25, 2013 (138)
35	SSMP	ss654799772	Apr 25, 2013 (138)
36	ILLUMINA	ss778517298	Aug 21, 2014 (142)
37	ILLUMINA	ss783035188	Sep 08, 2015 (146)
38	ILLUMINA	ss783994743	Aug 21, 2014 (142)
39	ILLUMINA	ss832292843	Sep 08, 2015 (146)
40	ILLUMINA	ss833973642	Aug 21, 2014 (142)
41	EVA-GONL	ss984937957	Aug 21, 2014 (142)
42	JMKIDD_LAB	ss1075086475	Aug 21, 2014 (142)
43	1000GENOMES	ss1327665207	Aug 21, 2014 (142)
44	DDI	ss1431322420	Apr 01, 2015 (144)
45	EVA_GENOME_DK	ss1582456046	Apr 01, 2015 (144)
46	EVA_DECODE	ss1594529317	Apr 01, 2015 (144)
47	EVA_UK10K_ALSPAC	ss1619497675	Apr 01, 2015 (144)
48	EVA_UK10K_TWINSUK	ss1662491708	Apr 01, 2015 (144)
49	EVA_SVP	ss1712997150	Apr 01, 2015 (144)
50	ILLUMINA	ss1752670506	Sep 08, 2015 (146)
51	HAMMER_LAB	ss1805283674	Sep 08, 2015 (146)
52	WEILL_CORNELL_DGM	ss1928198125	Feb 12, 2016 (147)
53	GENOMED	ss1970847738	Jul 19, 2016 (147)
54	JJLAB	ss2024789229	Sep 14, 2016 (149)
55	USC_VALOUEV	ss2153012570	Dec 20, 2016 (150)
56	HUMAN_LONGEVITY	ss2298940244	Dec 20, 2016 (150)
57	SYSTEMSBIOZJU	ss2626879400	Nov 08, 2017 (151)
58	ILLUMINA	ss2634676336	Nov 08, 2017 (151)
59	ILLUMINA	ss2635177744	Nov 08, 2017 (151)
60	GRF	ss2708737802	Nov 08, 2017 (151)
61	GNOMAD	ss2860632777	Nov 08, 2017 (151)
62	SWEGEN	ss3002262665	Nov 08, 2017 (151)
63	BIOINF_KMB_FNS_UNIBA	ss3026183991	Nov 08, 2017 (151)
64	CSHL	ss3347907690	Nov 08, 2017 (151)
65	ILLUMINA	ss3629943018	Oct 12, 2018 (152)
66	ILLUMINA	ss3632579794	Oct 12, 2018 (152)
67	ILLUMINA	ss3633482273	Oct 12, 2018 (152)
68	ILLUMINA	ss3634208090	Oct 12, 2018 (152)
69	ILLUMINA	ss3635147512	Oct 12, 2018 (152)
70	ILLUMINA	ss3635887395	Oct 12, 2018 (152)
71	ILLUMINA	ss3636882663	Oct 12, 2018 (152)
72	ILLUMINA	ss3637640459	Oct 12, 2018 (152)
73	ILLUMINA	ss3638731252	Oct 12, 2018 (152)
74	ILLUMINA	ss3640854803	Oct 12, 2018 (152)
75	ILLUMINA	ss3643664447	Oct 12, 2018 (152)
76	OMUKHERJEE_ADBS	ss3646365930	Oct 12, 2018 (152)
77	URBANLAB	ss3648785039	Oct 12, 2018 (152)
78	EGCUT_WGS	ss3670008350	Jul 13, 2019 (153)
79	EVA_DECODE	ss3720955359	Jul 13, 2019 (153)
80	ACPOP	ss3735186573	Jul 13, 2019 (153)
81	ILLUMINA	ss3745447458	Jul 13, 2019 (153)
82	EVA	ss3767321474	Jul 13, 2019 (153)
83	ILLUMINA	ss3772940157	Jul 13, 2019 (153)
84	PACBIO	ss3785996210	Jul 13, 2019 (153)
85	PACBIO	ss3791268940	Jul 13, 2019 (153)
86	PACBIO	ss3796149238	Jul 13, 2019 (153)
87	KHV_HUMAN_GENOMES	ss3810487676	Jul 13, 2019 (153)
88	EVA	ss3825731474	Apr 26, 2020 (154)
89	EVA	ss3830887976	Apr 26, 2020 (154)
90	EVA	ss3838943627	Apr 26, 2020 (154)
91	EVA	ss3844401039	Apr 26, 2020 (154)
92	SGDP_PRJ	ss3868680373	Apr 26, 2020 (154)
93	KRGDB	ss3916069712	Apr 26, 2020 (154)
94	FSA-LAB	ss3984385500	Apr 26, 2021 (155)
95	EVA	ss3986041891	Apr 26, 2021 (155)
96	EVA	ss4017365904	Apr 26, 2021 (155)
97	VINODS	ss4026225732	Apr 26, 2021 (155)
98	TOPMED	ss4768355422	Apr 26, 2021 (155)
99	TOMMO_GENOMICS	ss5186192799	Apr 26, 2021 (155)
100	1000G_HIGH_COVERAGE	ss5275217248	Oct 13, 2022 (156)
101	EVA	ss5315288272	Oct 13, 2022 (156)
102	EVA	ss5377643283	Oct 13, 2022 (156)
103	HUGCELL_USP	ss5472044622	Oct 13, 2022 (156)
104	EVA	ss5509179255	Oct 13, 2022 (156)
105	1000G_HIGH_COVERAGE	ss5564616280	Oct 13, 2022 (156)
106	SANFORD_IMAGENETICS	ss5644257763	Oct 13, 2022 (156)
107	TOMMO_GENOMICS	ss5727382636	Oct 13, 2022 (156)
108	EVA	ss5799740520	Oct 13, 2022 (156)
109	YY_MCH	ss5809213574	Oct 13, 2022 (156)
110	EVA	ss5823706843	Oct 13, 2022 (156)
111	EVA	ss5856150171	Oct 13, 2022 (156)
112	EVA	ss5861419199	Oct 13, 2022 (156)
113	EVA	ss5973461593	Oct 13, 2022 (156)
114	1000Genomes	NC_000007.13 - 148114265	Oct 12, 2018 (152)
115	1000Genomes_30x	NC_000007.14 - 148417173	Oct 13, 2022 (156)
116	The Avon Longitudinal Study of Parents and Children	NC_000007.13 - 148114265	Oct 12, 2018 (152)
117	Genetic variation in the Estonian population	NC_000007.13 - 148114265	Oct 12, 2018 (152)
118	The Danish reference pan genome	NC_000007.13 - 148114265	Apr 26, 2020 (154)
119	gnomAD - Genomes	NC_000007.14 - 148417173	Apr 26, 2021 (155)
120	Genome of the Netherlands Release 5	NC_000007.13 - 148114265	Apr 26, 2020 (154)
121	HapMap	NC_000007.14 - 148417173	Apr 26, 2020 (154)
122	KOREAN population from KRGDB	NC_000007.13 - 148114265	Apr 26, 2020 (154)
123	Northern Sweden	NC_000007.13 - 148114265	Jul 13, 2019 (153)
124	Qatari	NC_000007.13 - 148114265	Apr 26, 2020 (154)
125	SGDP_PRJ	NC_000007.13 - 148114265	Apr 26, 2020 (154)
126	Siberian	NC_000007.13 - 148114265	Apr 26, 2020 (154)
127	8.3KJPN	NC_000007.13 - 148114265	Apr 26, 2021 (155)
128	14KJPN	NC_000007.14 - 148417173	Oct 13, 2022 (156)
129	TopMed	NC_000007.14 - 148417173	Apr 26, 2021 (155)
130	UK 10K study - Twins	NC_000007.13 - 148114265	Oct 12, 2018 (152)
131	A Vietnamese Genetic Variation Database	NC_000007.13 - 148114265	Jul 13, 2019 (153)
132	ALFA	NC_000007.14 - 148417173	Apr 26, 2021 (155)
133	ClinVar	RCV000281058.3	Oct 13, 2022 (156)
134	ClinVar	RCV000338399.3	Oct 13, 2022 (156)
135	ClinVar	RCV001653717.2	Oct 13, 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)
rs3175140	Jul 03, 2002 (106)
rs12704029	Sep 24, 2004 (123)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss160615679, ss167240323, ss208155227, ss254752282, ss279580796, ss285742361, ss293999256, ss480766609, ss1594529317, ss1712997150, ss2635177744, ss3643664447	NC_000007.12:147745197:A:C	NC_000007.14:148417172:A:C	(self)
39728639, 22111390, 15746598, 8620984, 9864657, 23247106, 8471438, 10240055, 20697353, 5528924, 44162106, 22111390, 4922128, ss223403503, ss234218567, ss241119167, ss480782425, ss481677153, ss485178030, ss537167407, ss560387504, ss654799772, ss778517298, ss783035188, ss783994743, ss832292843, ss833973642, ss984937957, ss1075086475, ss1327665207, ss1431322420, ss1582456046, ss1619497675, ss1662491708, ss1752670506, ss1805283674, ss1928198125, ss1970847738, ss2024789229, ss2153012570, ss2626879400, ss2634676336, ss2708737802, ss2860632777, ss3002262665, ss3347907690, ss3629943018, ss3632579794, ss3633482273, ss3634208090, ss3635147512, ss3635887395, ss3636882663, ss3637640459, ss3638731252, ss3640854803, ss3646365930, ss3670008350, ss3735186573, ss3745447458, ss3767321474, ss3772940157, ss3785996210, ss3791268940, ss3796149238, ss3825731474, ss3830887976, ss3838943627, ss3868680373, ss3916069712, ss3984385500, ss3986041891, ss4017365904, ss5186192799, ss5315288272, ss5377643283, ss5509179255, ss5644257763, ss5799740520, ss5823706843, ss5973461593	NC_000007.13:148114264:A:C	NC_000007.14:148417172:A:C	(self)
RCV000281058.3, RCV000338399.3, RCV001653717.2, 52142215, 280546629, 3520510, 61219740, 605732981, 9784835162, ss2298940244, ss3026183991, ss3648785039, ss3720955359, ss3810487676, ss3844401039, ss4768355422, ss5275217248, ss5472044622, ss5564616280, ss5727382636, ss5809213574, ss5856150171, ss5861419199	NC_000007.14:148417172:A:C	NC_000007.14:148417172:A:C	(self)
ss17173770, ss19715784, ss20312592, ss22519319, ss22890922	NT_007914.13:8690280:A:C	NC_000007.14:148417172:A:C	(self)
ss3227, ss1547691, ss3839335, ss4401680, ss4432661, ss44821712, ss65718455, ss74894116, ss98349634, ss104478707, ss119337242, ss139961285, ss173573306	NT_007914.15:8709887:A:C	NC_000007.14:148417172:A:C	(self)
ss4026225732	NT_187564.1:200767:A:C	NC_000007.14:148417172:A:C	(self)
9784835162	NC_000007.14:148417172:A:T	NC_000007.14:148417172:A: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 rs3194

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.
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

rs3194