Name: rs6339
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.

rs6339

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:156879154 (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: G>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.036575 (9681/264690, TOPMED)
T=0.041676 (10381/249090, GnomAD_exome)
T=0.052982 (12245/231116, ALFA) (+ 20 more)
T=0.036982 (5183/140150, GnomAD)
T=0.042404 (5101/120296, ExAC)
T=0.01943 (1529/78700, PAGE_STUDY)
T=0.0244 (156/6404, 1000G_30x)
T=0.0230 (115/5008, 1000G)
T=0.0585 (262/4480, Estonian)
T=0.0586 (226/3854, ALSPAC)
T=0.0556 (206/3708, TWINSUK)
T=0.0007 (2/2920, KOREAN)
T=0.0314 (40/1274, HapMap)
T=0.045 (45/998, GoNL)
T=0.001 (1/792, PRJEB37584)
T=0.052 (31/600, NorthernSweden)
T=0.052 (28/534, MGP)
T=0.023 (7/302, FINRISK)
T=0.037 (8/216, Qatari)
G=0.50 (20/40, SGDP_PRJ)
T=0.50 (20/40, SGDP_PRJ)
G=0.5 (2/4, Siberian)
T=0.5 (2/4, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: NTRK1 : Missense Variant
Publications: 8 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	247524	G=0.947835	T=0.052165	0.898862	0.003192	0.097946	7
European	Sub	201558	G=0.942250	T=0.057750	0.888082	0.003582	0.108336	1
African	Sub	11444	G=0.98768	T=0.01232	0.975708	0.00035	0.023943	1
African Others	Sub	404	G=1.000	T=0.000	1.0	0.0	0.0	N/A
African American	Sub	11040	G=0.98723	T=0.01277	0.974819	0.000362	0.024819	1
Asian	Sub	6394	G=1.0000	T=0.0000	1.0	0.0	0.0	N/A
East Asian	Sub	4540	G=1.0000	T=0.0000	1.0	0.0	0.0	N/A
Other Asian	Sub	1854	G=1.0000	T=0.0000	1.0	0.0	0.0	N/A
Latin American 1	Sub	904	G=0.959	T=0.041	0.922566	0.004425	0.073009	1
Latin American 2	Sub	5180	G=0.9801	T=0.0199	0.960618	0.000386	0.038996	0
South Asian	Sub	312	G=0.955	T=0.045	0.910256	0.0	0.089744	0
Other	Sub	21732	G=0.95504	T=0.04496	0.912755	0.002669	0.084576	2

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	G=0.963425	T=0.036575
gnomAD - Exomes	Global	Study-wide	249090	G=0.958324	T=0.041676
gnomAD - Exomes	European	Sub	133258	G=0.949061	T=0.050939
gnomAD - Exomes	Asian	Sub	48976	G=0.96539	T=0.03461
gnomAD - Exomes	American	Sub	34534	G=0.97643	T=0.02357
gnomAD - Exomes	African	Sub	16160	G=0.99140	T=0.00860
gnomAD - Exomes	Ashkenazi Jewish	Sub	10050	G=0.93652	T=0.06348
gnomAD - Exomes	Other	Sub	6112	G=0.9498	T=0.0502
Allele Frequency Aggregator	Total	Global	231116	G=0.947018	T=0.052982
Allele Frequency Aggregator	European	Sub	191420	G=0.942117	T=0.057883
Allele Frequency Aggregator	Other	Sub	20300	G=0.95512	T=0.04488
Allele Frequency Aggregator	African	Sub	6606	G=0.9849	T=0.0151
Allele Frequency Aggregator	Asian	Sub	6394	G=1.0000	T=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	5180	G=0.9801	T=0.0199
Allele Frequency Aggregator	Latin American 1	Sub	904	G=0.959	T=0.041
Allele Frequency Aggregator	South Asian	Sub	312	G=0.955	T=0.045
gnomAD - Genomes	Global	Study-wide	140150	G=0.963018	T=0.036982
gnomAD - Genomes	European	Sub	75886	G=0.94733	T=0.05267
gnomAD - Genomes	African	Sub	42010	G=0.98919	T=0.01081
gnomAD - Genomes	American	Sub	13652	G=0.96894	T=0.03106
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	G=0.9316	T=0.0684
gnomAD - Genomes	East Asian	Sub	3132	G=0.9997	T=0.0003
gnomAD - Genomes	Other	Sub	2150	G=0.9628	T=0.0372
ExAC	Global	Study-wide	120296	G=0.957596	T=0.042404
ExAC	Europe	Sub	72698	G=0.94729	T=0.05271
ExAC	Asian	Sub	25104	G=0.96582	T=0.03418
ExAC	American	Sub	11522	G=0.97579	T=0.02421
ExAC	African	Sub	10074	G=0.99057	T=0.00943
ExAC	Other	Sub	898	G=0.959	T=0.041
The PAGE Study	Global	Study-wide	78700	G=0.98057	T=0.01943
The PAGE Study	AfricanAmerican	Sub	32514	G=0.98742	T=0.01258
The PAGE Study	Mexican	Sub	10810	G=0.97428	T=0.02572
The PAGE Study	Asian	Sub	8318	G=0.9994	T=0.0006
The PAGE Study	PuertoRican	Sub	7918	G=0.9636	T=0.0364
The PAGE Study	NativeHawaiian	Sub	4534	G=0.9843	T=0.0157
The PAGE Study	Cuban	Sub	4230	G=0.9629	T=0.0371
The PAGE Study	Dominican	Sub	3828	G=0.9697	T=0.0303
The PAGE Study	CentralAmerican	Sub	2450	G=0.9804	T=0.0196
The PAGE Study	SouthAmerican	Sub	1982	G=0.9697	T=0.0303
The PAGE Study	NativeAmerican	Sub	1260	G=0.9627	T=0.0373
The PAGE Study	SouthAsian	Sub	856	G=0.942	T=0.058
1000Genomes_30x	Global	Study-wide	6404	G=0.9756	T=0.0244
1000Genomes_30x	African	Sub	1786	G=0.9989	T=0.0011
1000Genomes_30x	Europe	Sub	1266	G=0.9605	T=0.0395
1000Genomes_30x	South Asian	Sub	1202	G=0.9393	T=0.0607
1000Genomes_30x	East Asian	Sub	1170	G=1.0000	T=0.0000
1000Genomes_30x	American	Sub	980	G=0.968	T=0.032
1000Genomes	Global	Study-wide	5008	G=0.9770	T=0.0230
1000Genomes	African	Sub	1322	G=0.9985	T=0.0015
1000Genomes	East Asian	Sub	1008	G=1.0000	T=0.0000
1000Genomes	Europe	Sub	1006	G=0.9622	T=0.0378
1000Genomes	South Asian	Sub	978	G=0.944	T=0.056
1000Genomes	American	Sub	694	G=0.971	T=0.029
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.9415	T=0.0585
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.9414	T=0.0586
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.9444	T=0.0556
KOREAN population from KRGDB	KOREAN	Study-wide	2920	G=0.9993	T=0.0007
HapMap	Global	Study-wide	1274	G=0.9686	T=0.0314
HapMap	American	Sub	670	G=0.963	T=0.037
HapMap	Asian	Sub	250	G=0.992	T=0.008
HapMap	African	Sub	178	G=0.994	T=0.006
HapMap	Europe	Sub	176	G=0.932	T=0.068
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.955	T=0.045
CNV burdens in cranial meningiomas	Global	Study-wide	792	G=0.999	T=0.001
CNV burdens in cranial meningiomas	CRM	Sub	792	G=0.999	T=0.001
Northern Sweden	ACPOP	Study-wide	600	G=0.948	T=0.052
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	G=0.948	T=0.052
FINRISK	Finnish from FINRISK project	Study-wide	302	G=0.977	T=0.023
Qatari	Global	Study-wide	216	G=0.963	T=0.037
SGDP_PRJ	Global	Study-wide	40	G=0.50	T=0.50
Siberian	Global	Study-wide	4	G=0.5	T=0.5

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.156879154G>T
GRCh37.p13 chr 1	NC_000001.10:g.156848946G>T
NTRK1 RefSeqGene (LRG_261)	NG_007493.1:g.68405G>T

Gene: NTRK1, neurotrophic receptor tyrosine kinase 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
NTRK1 transcript variant 3	NM_001007792.1:c.1730G>T	G [GGT] > V [GTT]	Coding Sequence Variant
high affinity nerve growth factor receptor isoform 3	NP_001007793.1:p.Gly577Val	G (Gly) > V (Val)	Missense Variant
NTRK1 transcript variant 2	NM_002529.4:c.1838G>T	G [GGT] > V [GTT]	Coding Sequence Variant
high affinity nerve growth factor receptor isoform 2 precursor	NP_002520.2:p.Gly613Val	G (Gly) > V (Val)	Missense Variant
NTRK1 transcript variant 1	NM_001012331.2:c.1820G>T	G [GGT] > V [GTT]	Coding Sequence Variant
high affinity nerve growth factor receptor isoform 1 precursor	NP_001012331.1:p.Gly607Val	G (Gly) > V (Val)	Missense 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: 27347 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000013101.17	Familial medullary thyroid carcinoma	Pathogenic
RCV000030667.26	Hereditary insensitivity to pain with anhidrosis	Pathogenic
RCV000031916.21	Hereditary insensitivity to pain with anhidrosis	Benign-Likely-Benign
RCV000127263.12	not specified	Benign-Likely-Benign
RCV000712454.2	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	G=	T
GRCh38.p14 chr 1	NC_000001.11:g.156879154=	NC_000001.11:g.156879154G>T
GRCh37.p13 chr 1	NC_000001.10:g.156848946=	NC_000001.10:g.156848946G>T
NTRK1 RefSeqGene (LRG_261)	NG_007493.1:g.68405=	NG_007493.1:g.68405G>T
NTRK1 transcript variant 2	NM_002529.4:c.1838=	NM_002529.4:c.1838G>T
NTRK1 transcript variant 2	NM_002529.3:c.1838=	NM_002529.3:c.1838G>T
NTRK1 transcript variant 1	NM_001012331.2:c.1820=	NM_001012331.2:c.1820G>T
NTRK1 transcript variant 1	NM_001012331.1:c.1820=	NM_001012331.1:c.1820G>T
NTRK1 transcript variant 3	NM_001007792.1:c.1730=	NM_001007792.1:c.1730G>T
NTRK1 transcript variant 2	NM_001007204.1:c.1838=	NM_001007204.1:c.1838G>T
high affinity nerve growth factor receptor isoform 2 precursor	NP_002520.2:p.Gly613=	NP_002520.2:p.Gly613Val
high affinity nerve growth factor receptor isoform 1 precursor	NP_001012331.1:p.Gly607=	NP_001012331.1:p.Gly607Val
high affinity nerve growth factor receptor isoform 3	NP_001007793.1:p.Gly577=	NP_001007793.1:p.Gly577Val

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#.

111 SubSNP, 21 Frequency, 5 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	WIAF-CSNP	ss7967	Sep 19, 2000 (52)
2	WI_SSAHASNP	ss6416725	Feb 20, 2003 (111)
3	HG_BONN_CNS_SNPS	ss28447276	Sep 21, 2004 (123)
4	APPLERA_GI	ss48404463	Mar 13, 2006 (126)
5	CANCER-GENOME	ss48533210	Mar 13, 2006 (126)
6	PERLEGEN	ss68780857	May 16, 2007 (127)
7	ILLUMINA	ss74889012	Dec 07, 2007 (129)
8	SI_EXO	ss76898538	Dec 07, 2007 (129)
9	BGI	ss102786644	Dec 01, 2009 (131)
10	ILLUMINA	ss161041470	Dec 01, 2009 (131)
11	OMICIA	ss169656729	Aug 28, 2012 (137)
12	OMICIA	ss169658023	Aug 28, 2012 (137)
13	ILLUMINA	ss173993585	Jul 04, 2010 (132)
14	GENEREVIEWS	ss184955868	Dec 29, 2009 (131)
15	1000GENOMES	ss230736097	Jul 14, 2010 (132)
16	OMIM-CURATED-RECORDS	ss288287995	Dec 21, 2010 (133)
17	PJP	ss290639310	May 09, 2011 (134)
18	NHLBI-ESP	ss342001176	May 09, 2011 (134)
19	ILLUMINA	ss479391069	Sep 08, 2015 (146)
20	ILLUMINA	ss482110780	May 04, 2012 (137)
21	ILLUMINA	ss483177072	May 04, 2012 (137)
22	1000GENOMES	ss489769820	May 04, 2012 (137)
23	EXOME_CHIP	ss491303328	May 04, 2012 (137)
24	CLINSEQ_SNP	ss491606371	May 04, 2012 (137)
25	ILLUMINA	ss535398057	Sep 08, 2015 (146)
26	ILLUMINA	ss779499799	Sep 08, 2015 (146)
27	ILLUMINA	ss780702086	Sep 08, 2015 (146)
28	ILLUMINA	ss782031833	Sep 08, 2015 (146)
29	ILLUMINA	ss783376386	Sep 08, 2015 (146)
30	ILLUMINA	ss834970023	Sep 08, 2015 (146)
31	EVA-GONL	ss975696379	Aug 21, 2014 (142)
32	JMKIDD_LAB	ss1067427111	Aug 21, 2014 (142)
33	JMKIDD_LAB	ss1068278035	Aug 21, 2014 (142)
34	1000GENOMES	ss1292984000	Aug 21, 2014 (142)
35	EVA_FINRISK	ss1584011792	Apr 01, 2015 (144)
36	EVA_DECODE	ss1585078565	Apr 01, 2015 (144)
37	EVA_UK10K_ALSPAC	ss1601243476	Apr 01, 2015 (144)
38	EVA_UK10K_TWINSUK	ss1644237509	Apr 01, 2015 (144)
39	EVA_EXAC	ss1685842539	Apr 01, 2015 (144)
40	EVA_MGP	ss1710927214	Apr 01, 2015 (144)
41	EVA_SVP	ss1712371955	Apr 01, 2015 (144)
42	ILLUMINA	ss1751873776	Sep 08, 2015 (146)
43	ILLUMINA	ss1917736151	Feb 12, 2016 (147)
44	WEILL_CORNELL_DGM	ss1918930103	Feb 12, 2016 (147)
45	ILLUMINA	ss1946010591	Feb 12, 2016 (147)
46	ILLUMINA	ss1958320295	Feb 12, 2016 (147)
47	JJLAB	ss2019979952	Sep 14, 2016 (149)
48	USC_VALOUEV	ss2148005917	Dec 20, 2016 (150)
49	HUMAN_LONGEVITY	ss2166664462	Dec 20, 2016 (150)
50	ILLUMINA	ss2632577902	Nov 08, 2017 (151)
51	ILLUMINA	ss2632577903	Nov 08, 2017 (151)
52	GNOMAD	ss2731950640	Nov 08, 2017 (151)
53	GNOMAD	ss2746467049	Nov 08, 2017 (151)
54	GNOMAD	ss2761496305	Nov 08, 2017 (151)
55	AFFY	ss2984880660	Nov 08, 2017 (151)
56	AFFY	ss2985525704	Nov 08, 2017 (151)
57	SWEGEN	ss2987776572	Nov 08, 2017 (151)
58	ILLUMINA	ss3021138930	Nov 08, 2017 (151)
59	BIOINF_KMB_FNS_UNIBA	ss3023746771	Nov 08, 2017 (151)
60	CSHL	ss3343716145	Nov 08, 2017 (151)
61	ILLUMINA	ss3626212538	Oct 11, 2018 (152)
62	ILLUMINA	ss3626212539	Oct 11, 2018 (152)
63	ILLUMINA	ss3630610671	Oct 11, 2018 (152)
64	ILLUMINA	ss3634351335	Oct 11, 2018 (152)
65	ILLUMINA	ss3636030396	Oct 11, 2018 (152)
66	ILLUMINA	ss3637788581	Oct 11, 2018 (152)
67	ILLUMINA	ss3640058689	Oct 11, 2018 (152)
68	ILLUMINA	ss3642797742	Oct 11, 2018 (152)
69	ILLUMINA	ss3644506549	Oct 11, 2018 (152)
70	OMUKHERJEE_ADBS	ss3646246738	Oct 11, 2018 (152)
71	ILLUMINA	ss3651474045	Oct 11, 2018 (152)
72	ILLUMINA	ss3653649906	Oct 11, 2018 (152)
73	EGCUT_WGS	ss3655715722	Jul 12, 2019 (153)
74	EVA_DECODE	ss3687812161	Jul 12, 2019 (153)
75	ILLUMINA	ss3725067764	Jul 12, 2019 (153)
76	ACPOP	ss3727496662	Jul 12, 2019 (153)
77	ILLUMINA	ss3744353435	Jul 12, 2019 (153)
78	ILLUMINA	ss3744652240	Jul 12, 2019 (153)
79	EVA	ss3746824943	Jul 12, 2019 (153)
80	PAGE_CC	ss3770842901	Jul 12, 2019 (153)
81	ILLUMINA	ss3772153336	Jul 12, 2019 (153)
82	KHV_HUMAN_GENOMES	ss3799824455	Jul 12, 2019 (153)
83	EVA	ss3823670375	Apr 25, 2020 (154)
84	EVA	ss3825577129	Apr 25, 2020 (154)
85	EVA	ss3826430557	Apr 25, 2020 (154)
86	SGDP_PRJ	ss3850034990	Apr 25, 2020 (154)
87	KRGDB	ss3895252335	Apr 25, 2020 (154)
88	FSA-LAB	ss3983948756	Apr 25, 2021 (155)
89	EVA	ss3984465051	Apr 25, 2021 (155)
90	EVA	ss3986141308	Apr 25, 2021 (155)
91	EVA	ss4016939021	Apr 25, 2021 (155)
92	TOPMED	ss4468853286	Apr 25, 2021 (155)
93	EVA	ss5236874331	Apr 25, 2021 (155)
94	EVA	ss5237274264	Apr 25, 2021 (155)
95	EVA	ss5237633031	Oct 12, 2022 (156)
96	1000G_HIGH_COVERAGE	ss5244344632	Oct 12, 2022 (156)
97	TRAN_CS_UWATERLOO	ss5314397611	Oct 12, 2022 (156)
98	EVA	ss5322146653	Oct 12, 2022 (156)
99	HUGCELL_USP	ss5444931664	Oct 12, 2022 (156)
100	1000G_HIGH_COVERAGE	ss5517698697	Oct 12, 2022 (156)
101	EVA	ss5623890669	Oct 12, 2022 (156)
102	SANFORD_IMAGENETICS	ss5624218455	Oct 12, 2022 (156)
103	SANFORD_IMAGENETICS	ss5626618494	Oct 12, 2022 (156)
104	EVA	ss5832684494	Oct 12, 2022 (156)
105	EVA	ss5847167101	Oct 12, 2022 (156)
106	EVA	ss5847557693	Oct 12, 2022 (156)
107	EVA	ss5848274201	Oct 12, 2022 (156)
108	EVA	ss5910303147	Oct 12, 2022 (156)
109	EVA	ss5938413108	Oct 12, 2022 (156)
110	EVA	ss5979290820	Oct 12, 2022 (156)
111	EVA	ss5979991197	Oct 12, 2022 (156)
112	1000Genomes	NC_000001.10 - 156848946	Oct 11, 2018 (152)
113	1000Genomes_30x	NC_000001.11 - 156879154	Oct 12, 2022 (156)
114	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 156848946	Oct 11, 2018 (152)
115	Genetic variation in the Estonian population	NC_000001.10 - 156848946	Oct 11, 2018 (152)
116	ExAC	NC_000001.10 - 156848946	Oct 11, 2018 (152)
117	FINRISK	NC_000001.10 - 156848946	Apr 25, 2020 (154)
118	gnomAD - Genomes	NC_000001.11 - 156879154	Apr 25, 2021 (155)
119	gnomAD - Exomes	NC_000001.10 - 156848946	Jul 12, 2019 (153)
120	Genome of the Netherlands Release 5	NC_000001.10 - 156848946	Apr 25, 2020 (154)
121	HapMap	NC_000001.11 - 156879154	Apr 25, 2020 (154)
122	KOREAN population from KRGDB	NC_000001.10 - 156848946	Apr 25, 2020 (154)
123	Medical Genome Project healthy controls from Spanish population	NC_000001.10 - 156848946	Apr 25, 2020 (154)
124	Northern Sweden	NC_000001.10 - 156848946	Jul 12, 2019 (153)
125	The PAGE Study	NC_000001.11 - 156879154	Jul 12, 2019 (153)
126	CNV burdens in cranial meningiomas	NC_000001.10 - 156848946	Apr 25, 2021 (155)
127	Qatari	NC_000001.10 - 156848946	Apr 25, 2020 (154)
128	SGDP_PRJ	NC_000001.10 - 156848946	Apr 25, 2020 (154)
129	Siberian	NC_000001.10 - 156848946	Apr 25, 2020 (154)
130	TopMed	NC_000001.11 - 156879154	Apr 25, 2021 (155)
131	UK 10K study - Twins	NC_000001.10 - 156848946	Oct 11, 2018 (152)
132	ALFA	NC_000001.11 - 156879154	Apr 25, 2021 (155)
133	ClinVar	RCV000013101.17	Oct 11, 2018 (152)
134	ClinVar	RCV000030667.26	Jul 12, 2019 (153)
135	ClinVar	RCV000031916.21	Oct 12, 2022 (156)
136	ClinVar	RCV000127263.12	Oct 12, 2022 (156)
137	ClinVar	RCV000712454.2	Oct 12, 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)
rs17838191	Oct 07, 2004 (123)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss290639310, ss482110780, ss491606371, ss1585078565, ss1712371955, ss3642797742	NC_000001.9:155115569:G:T	NC_000001.11:156879153:G:T	(self)
3778078, 2053938, 1453970, 5063790, 8253, 974509, 891019, 2429729, 43966, 781527, 14367, 972033, 2051970, 522271, 2053938, ss230736097, ss342001176, ss479391069, ss483177072, ss489769820, ss491303328, ss535398057, ss779499799, ss780702086, ss782031833, ss783376386, ss834970023, ss975696379, ss1067427111, ss1068278035, ss1292984000, ss1584011792, ss1601243476, ss1644237509, ss1685842539, ss1710927214, ss1751873776, ss1917736151, ss1918930103, ss1946010591, ss1958320295, ss2019979952, ss2148005917, ss2632577902, ss2632577903, ss2731950640, ss2746467049, ss2761496305, ss2984880660, ss2985525704, ss2987776572, ss3021138930, ss3343716145, ss3626212538, ss3626212539, ss3630610671, ss3634351335, ss3636030396, ss3637788581, ss3640058689, ss3644506549, ss3646246738, ss3651474045, ss3653649906, ss3655715722, ss3727496662, ss3744353435, ss3744652240, ss3746824943, ss3772153336, ss3823670375, ss3825577129, ss3826430557, ss3850034990, ss3895252335, ss3983948756, ss3984465051, ss3986141308, ss4016939021, ss5237274264, ss5322146653, ss5623890669, ss5624218455, ss5626618494, ss5832684494, ss5847167101, ss5847557693, ss5848274201, ss5938413108, ss5979290820, ss5979991197	NC_000001.10:156848945:G:T	NC_000001.11:156879153:G:T	(self)
RCV000013101.17, RCV000030667.26, RCV000031916.21, RCV000127263.12, RCV000712454.2, 5224632, 27515179, 178769, 64370, 32459621, 6548147533, ss169656729, ss169658023, ss184955868, ss288287995, ss2166664462, ss3023746771, ss3687812161, ss3725067764, ss3770842901, ss3799824455, ss4468853286, ss5236874331, ss5237633031, ss5244344632, ss5314397611, ss5444931664, ss5517698697, ss5910303147	NC_000001.11:156879153:G:T	NC_000001.11:156879153:G:T	(self)
ss76898538	NT_004487.18:7339300:G:T	NC_000001.11:156879153:G:T	(self)
ss7967, ss6416725, ss28447276, ss48404463, ss48533210, ss68780857, ss74889012, ss102786644, ss161041470, ss173993585	NT_004487.19:8337587:G:T	NC_000001.11:156879153:G:T	(self)

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

8 citations for rs6339

PMID	Title	Author	Year	Journal
10330344	Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor.	Mardy S et al.	1999	American journal of human genetics
10443680	Mutation analysis reveals novel sequence variants in NTRK1 in sporadic human medullary thyroid carcinoma.	Gimm O et al.	1999	The Journal of clinical endocrinology and metabolism
10861667	Congenital insensitivity to pain with anhidrosis (CIPA) in Israeli-Bedouins: genetic heterogeneity, novel mutations in the TRKA/NGF receptor gene, clinical findings, and results of nerve conduction studies.	Shatzky S et al.	2000	American journal of medical genetics
11159935	Congenital insensitivity to pain with anhidrosis (CIPA): effect of TRKA (NTRK1) missense mutations on autophosphorylation of the receptor tyrosine kinase for nerve growth factor.	Mardy S et al.	2001	Human molecular genetics
17212826	TAMGeS: a Three-array Method for Genotyping of SNPs by a dual-colour approach.	Cozza A et al.	2007	BMC genomics
18270328	Somatic mutations and germline sequence variants in the expressed tyrosine kinase genes of patients with de novo acute myeloid leukemia.	Tomasson MH et al.	2008	Blood
20301726	NTRK1 Congenital Insensitivity to Pain with Anhidrosis.	Indo Y et al.	1993	GeneReviews(®)
30738251	Study of 45 candidate genes suggests CACNG2 may be associated with lithium response in bipolar disorder.	Miranda A et al.	2019	Journal of affective disorders

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).
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs6339