Name: rs6336
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.

rs6336

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:156879126 (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>A / C>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.036552 (9675/264690, TOPMED)
T=0.041647 (10359/248732, GnomAD_exome)
T=0.036964 (5180/140138, GnomAD) (+ 21 more)
T=0.042526 (5104/120020, ExAC)
T=0.054655 (6004/109852, ALFA)
T=0.01939 (1526/78694, PAGE_STUDY)
T=0.0244 (156/6404, 1000G_30x)
T=0.0244 (122/5008, 1000G)
T=0.0590 (264/4478, Estonian)
T=0.0584 (225/3854, ALSPAC)
T=0.0556 (206/3708, TWINSUK)
T=0.0007 (2/2922, KOREAN)
T=0.045 (45/998, GoNL)
T=0.001 (1/792, PRJEB37584)
T=0.052 (31/600, NorthernSweden)
T=0.051 (27/534, MGP)
T=0.015 (5/328, HapMap)
T=0.023 (7/302, FINRISK)
T=0.037 (8/216, Qatari)
T=0.05 (2/40, GENOME_DK)
C=0.50 (20/40, SGDP_PRJ)
T=0.50 (20/40, SGDP_PRJ)
C=0.5 (2/4, Siberian)
T=0.5 (2/4, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: NTRK1 : Missense Variant
Publications: 11 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	126346	C=0.947185	T=0.052815	0.897504	0.003134	0.099362	2
European	Sub	106210	C=0.943037	T=0.056963	0.889483	0.003408	0.107109	0
African	Sub	8442	C=0.9873	T=0.0127	0.975124	0.000474	0.024402	2
African Others	Sub	306	C=1.000	T=0.000	1.0	0.0	0.0	N/A
African American	Sub	8136	C=0.9868	T=0.0132	0.974189	0.000492	0.02532	2
Asian	Sub	216	C=1.000	T=0.000	1.0	0.0	0.0	N/A
East Asian	Sub	160	C=1.000	T=0.000	1.0	0.0	0.0	N/A
Other Asian	Sub	56	C=1.00	T=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	506	C=0.968	T=0.032	0.936759	0.0	0.063241	0
Latin American 2	Sub	650	C=0.977	T=0.023	0.953846	0.0	0.046154	0
South Asian	Sub	98	C=0.95	T=0.05	0.897959	0.0	0.102041	0
Other	Sub	10224	C=0.95305	T=0.04695	0.909038	0.002934	0.088028	1

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=0.963448	T=0.036552
gnomAD - Exomes	Global	Study-wide	248732	C=0.958353	T=0.041647
gnomAD - Exomes	European	Sub	133048	C=0.949244	T=0.050756
gnomAD - Exomes	Asian	Sub	48986	C=0.96517	T=0.03483
gnomAD - Exomes	American	Sub	34554	C=0.97638	T=0.02362
gnomAD - Exomes	African	Sub	15988	C=0.99149	T=0.00851
gnomAD - Exomes	Ashkenazi Jewish	Sub	10058	C=0.93637	T=0.06363
gnomAD - Exomes	Other	Sub	6098	C=0.9495	T=0.0505
gnomAD - Genomes	Global	Study-wide	140138	C=0.963036	T=0.036964
gnomAD - Genomes	European	Sub	75906	C=0.94741	T=0.05259
gnomAD - Genomes	African	Sub	41978	C=0.98916	T=0.01084
gnomAD - Genomes	American	Sub	13652	C=0.96887	T=0.03113
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	C=0.9316	T=0.0684
gnomAD - Genomes	East Asian	Sub	3134	C=0.9997	T=0.0003
gnomAD - Genomes	Other	Sub	2150	C=0.9628	T=0.0372
ExAC	Global	Study-wide	120020	C=0.957474	T=0.042526
ExAC	Europe	Sub	72620	C=0.94727	T=0.05273
ExAC	Asian	Sub	25102	C=0.96538	T=0.03462
ExAC	American	Sub	11536	C=0.97581	T=0.02419
ExAC	African	Sub	9870	C=0.9909	T=0.0091
ExAC	Other	Sub	892	C=0.959	T=0.041
Allele Frequency Aggregator	Total	Global	109852	C=0.945345	T=0.054655
Allele Frequency Aggregator	European	Sub	96004	C=0.94283	T=0.05717
Allele Frequency Aggregator	Other	Sub	8772	C=0.9530	T=0.0470
Allele Frequency Aggregator	African	Sub	3606	C=0.9814	T=0.0186
Allele Frequency Aggregator	Latin American 2	Sub	650	C=0.977	T=0.023
Allele Frequency Aggregator	Latin American 1	Sub	506	C=0.968	T=0.032
Allele Frequency Aggregator	Asian	Sub	216	C=1.000	T=0.000
Allele Frequency Aggregator	South Asian	Sub	98	C=0.95	T=0.05
The PAGE Study	Global	Study-wide	78694	C=0.98061	T=0.01939
The PAGE Study	AfricanAmerican	Sub	32516	C=0.98742	T=0.01258
The PAGE Study	Mexican	Sub	10810	C=0.97428	T=0.02572
The PAGE Study	Asian	Sub	8318	C=0.9994	T=0.0006
The PAGE Study	PuertoRican	Sub	7916	C=0.9637	T=0.0363
The PAGE Study	NativeHawaiian	Sub	4532	C=0.9846	T=0.0154
The PAGE Study	Cuban	Sub	4228	C=0.9631	T=0.0369
The PAGE Study	Dominican	Sub	3828	C=0.9697	T=0.0303
The PAGE Study	CentralAmerican	Sub	2448	C=0.9808	T=0.0192
The PAGE Study	SouthAmerican	Sub	1982	C=0.9697	T=0.0303
The PAGE Study	NativeAmerican	Sub	1260	C=0.9627	T=0.0373
The PAGE Study	SouthAsian	Sub	856	C=0.940	T=0.060
1000Genomes_30x	Global	Study-wide	6404	C=0.9756	T=0.0244
1000Genomes_30x	African	Sub	1786	C=0.9989	T=0.0011
1000Genomes_30x	Europe	Sub	1266	C=0.9605	T=0.0395
1000Genomes_30x	South Asian	Sub	1202	C=0.9393	T=0.0607
1000Genomes_30x	East Asian	Sub	1170	C=1.0000	T=0.0000
1000Genomes_30x	American	Sub	980	C=0.968	T=0.032
1000Genomes	Global	Study-wide	5008	C=0.9756	T=0.0244
1000Genomes	African	Sub	1322	C=0.9962	T=0.0038
1000Genomes	East Asian	Sub	1008	C=1.0000	T=0.0000
1000Genomes	Europe	Sub	1006	C=0.9592	T=0.0408
1000Genomes	South Asian	Sub	978	C=0.943	T=0.057
1000Genomes	American	Sub	694	C=0.971	T=0.029
Genetic variation in the Estonian population	Estonian	Study-wide	4478	C=0.9410	T=0.0590
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.9416	T=0.0584
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.9444	T=0.0556
KOREAN population from KRGDB	KOREAN	Study-wide	2922	C=0.9993	T=0.0007
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.955	T=0.045
CNV burdens in cranial meningiomas	Global	Study-wide	792	C=0.999	T=0.001
CNV burdens in cranial meningiomas	CRM	Sub	792	C=0.999	T=0.001
Northern Sweden	ACPOP	Study-wide	600	C=0.948	T=0.052
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.949	T=0.051
HapMap	Global	Study-wide	328	C=0.985	T=0.015
HapMap	African	Sub	120	C=1.000	T=0.000
HapMap	American	Sub	120	C=0.958	T=0.042
HapMap	Asian	Sub	88	C=1.00	T=0.00
FINRISK	Finnish from FINRISK project	Study-wide	302	C=0.977	T=0.023
Qatari	Global	Study-wide	216	C=0.963	T=0.037
The Danish reference pan genome	Danish	Study-wide	40	C=0.95	T=0.05
SGDP_PRJ	Global	Study-wide	40	C=0.50	T=0.50
Siberian	Global	Study-wide	4	C=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.156879126C>A
GRCh38.p14 chr 1	NC_000001.11:g.156879126C>G
GRCh38.p14 chr 1	NC_000001.11:g.156879126C>T
GRCh37.p13 chr 1	NC_000001.10:g.156848918C>A
GRCh37.p13 chr 1	NC_000001.10:g.156848918C>G
GRCh37.p13 chr 1	NC_000001.10:g.156848918C>T
NTRK1 RefSeqGene (LRG_261)	NG_007493.1:g.68377C>A
NTRK1 RefSeqGene (LRG_261)	NG_007493.1:g.68377C>G
NTRK1 RefSeqGene (LRG_261)	NG_007493.1:g.68377C>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.1702C>A	H [CAT] > N [AAT]	Coding Sequence Variant
high affinity nerve growth factor receptor isoform 3	NP_001007793.1:p.His568Asn	H (His) > N (Asn)	Missense Variant
NTRK1 transcript variant 3	NM_001007792.1:c.1702C>G	H [CAT] > D [GAT]	Coding Sequence Variant
high affinity nerve growth factor receptor isoform 3	NP_001007793.1:p.His568Asp	H (His) > D (Asp)	Missense Variant
NTRK1 transcript variant 3	NM_001007792.1:c.1702C>T	H [CAT] > Y [TAT]	Coding Sequence Variant
high affinity nerve growth factor receptor isoform 3	NP_001007793.1:p.His568Tyr	H (His) > Y (Tyr)	Missense Variant
NTRK1 transcript variant 2	NM_002529.4:c.1810C>A	H [CAT] > N [AAT]	Coding Sequence Variant
high affinity nerve growth factor receptor isoform 2 precursor	NP_002520.2:p.His604Asn	H (His) > N (Asn)	Missense Variant
NTRK1 transcript variant 2	NM_002529.4:c.1810C>G	H [CAT] > D [GAT]	Coding Sequence Variant
high affinity nerve growth factor receptor isoform 2 precursor	NP_002520.2:p.His604Asp	H (His) > D (Asp)	Missense Variant
NTRK1 transcript variant 2	NM_002529.4:c.1810C>T	H [CAT] > Y [TAT]	Coding Sequence Variant
high affinity nerve growth factor receptor isoform 2 precursor	NP_002520.2:p.His604Tyr	H (His) > Y (Tyr)	Missense Variant
NTRK1 transcript variant 1	NM_001012331.2:c.1792C>A	H [CAT] > N [AAT]	Coding Sequence Variant
high affinity nerve growth factor receptor isoform 1 precursor	NP_001012331.1:p.His598Asn	H (His) > N (Asn)	Missense Variant
NTRK1 transcript variant 1	NM_001012331.2:c.1792C>G	H [CAT] > D [GAT]	Coding Sequence Variant
high affinity nerve growth factor receptor isoform 1 precursor	NP_001012331.1:p.His598Asp	H (His) > D (Asp)	Missense Variant
NTRK1 transcript variant 1	NM_001012331.2:c.1792C>T	H [CAT] > Y [TAT]	Coding Sequence Variant
high affinity nerve growth factor receptor isoform 1 precursor	NP_001012331.1:p.His598Tyr	H (His) > Y (Tyr)	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: 38397 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000013100.25	Familial medullary thyroid carcinoma	Pathogenic
RCV000030667.26	Hereditary insensitivity to pain with anhidrosis	Pathogenic
RCV000030674.21	Hereditary insensitivity to pain with anhidrosis	Benign-Likely-Benign
RCV000592514.12	not specified	Benign-Likely-Benign
RCV000712453.3	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=	A	G	T
GRCh38.p14 chr 1	NC_000001.11:g.156879126=	NC_000001.11:g.156879126C>A	NC_000001.11:g.156879126C>G	NC_000001.11:g.156879126C>T
GRCh37.p13 chr 1	NC_000001.10:g.156848918=	NC_000001.10:g.156848918C>A	NC_000001.10:g.156848918C>G	NC_000001.10:g.156848918C>T
NTRK1 RefSeqGene (LRG_261)	NG_007493.1:g.68377=	NG_007493.1:g.68377C>A	NG_007493.1:g.68377C>G	NG_007493.1:g.68377C>T
NTRK1 transcript variant 2	NM_002529.4:c.1810=	NM_002529.4:c.1810C>A	NM_002529.4:c.1810C>G	NM_002529.4:c.1810C>T
NTRK1 transcript variant 2	NM_002529.3:c.1810=	NM_002529.3:c.1810C>A	NM_002529.3:c.1810C>G	NM_002529.3:c.1810C>T
NTRK1 transcript variant 1	NM_001012331.2:c.1792=	NM_001012331.2:c.1792C>A	NM_001012331.2:c.1792C>G	NM_001012331.2:c.1792C>T
NTRK1 transcript variant 1	NM_001012331.1:c.1792=	NM_001012331.1:c.1792C>A	NM_001012331.1:c.1792C>G	NM_001012331.1:c.1792C>T
NTRK1 transcript variant 3	NM_001007792.1:c.1702=	NM_001007792.1:c.1702C>A	NM_001007792.1:c.1702C>G	NM_001007792.1:c.1702C>T
NTRK1 transcript variant 2	NM_001007204.1:c.1810=	NM_001007204.1:c.1810C>A	NM_001007204.1:c.1810C>G	NM_001007204.1:c.1810C>T
high affinity nerve growth factor receptor isoform 2 precursor	NP_002520.2:p.His604=	NP_002520.2:p.His604Asn	NP_002520.2:p.His604Asp	NP_002520.2:p.His604Tyr
high affinity nerve growth factor receptor isoform 1 precursor	NP_001012331.1:p.His598=	NP_001012331.1:p.His598Asn	NP_001012331.1:p.His598Asp	NP_001012331.1:p.His598Tyr
high affinity nerve growth factor receptor isoform 3	NP_001007793.1:p.His568=	NP_001007793.1:p.His568Asn	NP_001007793.1:p.His568Asp	NP_001007793.1:p.His568Tyr

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#.

92 SubSNP, 22 Frequency, 5 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	WIAF-CSNP	ss7964	Sep 19, 2000 (52)
2	WI_SSAHASNP	ss6416724	Feb 20, 2003 (111)
3	HG_BONN_CNS_SNPS	ss28447275	Sep 21, 2004 (123)
4	PERLEGEN	ss68780856	May 18, 2007 (127)
5	CANCER-GENOME	ss74800725	Dec 06, 2007 (129)
6	SI_EXO	ss76898536	Dec 06, 2007 (129)
7	BGI	ss102786643	Dec 01, 2009 (131)
8	OMICIA	ss169655889	Aug 28, 2012 (137)
9	OMICIA	ss169657403	Aug 28, 2012 (137)
10	GENEREVIEWS	ss184955867	Dec 29, 2009 (131)
11	1000GENOMES	ss230736096	Jul 14, 2010 (132)
12	PJP	ss290639309	May 09, 2011 (134)
13	NHLBI-ESP	ss342001174	May 09, 2011 (134)
14	ILLUMINA	ss479871291	May 04, 2012 (137)
15	ILLUMINA	ss482110777	May 04, 2012 (137)
16	1000GENOMES	ss489769818	May 04, 2012 (137)
17	EXOME_CHIP	ss491303327	May 04, 2012 (137)
18	CLINSEQ_SNP	ss491606370	May 04, 2012 (137)
19	ILLUMINA	ss780702083	Sep 08, 2015 (146)
20	ILLUMINA	ss781089489	Sep 08, 2015 (146)
21	ILLUMINA	ss783376383	Sep 08, 2015 (146)
22	EVA-GONL	ss975696378	Aug 21, 2014 (142)
23	JMKIDD_LAB	ss1067427110	Aug 21, 2014 (142)
24	JMKIDD_LAB	ss1068278034	Aug 21, 2014 (142)
25	1000GENOMES	ss1292983999	Aug 21, 2014 (142)
26	EVA_GENOME_DK	ss1574399195	Apr 01, 2015 (144)
27	EVA_FINRISK	ss1584011791	Apr 01, 2015 (144)
28	EVA_DECODE	ss1585078564	Apr 01, 2015 (144)
29	EVA_UK10K_ALSPAC	ss1601243475	Apr 01, 2015 (144)
30	EVA_UK10K_TWINSUK	ss1644237508	Apr 01, 2015 (144)
31	EVA_EXAC	ss1685842538	Apr 01, 2015 (144)
32	EVA_MGP	ss1710927213	Apr 01, 2015 (144)
33	WEILL_CORNELL_DGM	ss1918930102	Feb 12, 2016 (147)
34	ILLUMINA	ss1958320293	Feb 12, 2016 (147)
35	ILLUMINA	ss1958320294	Feb 12, 2016 (147)
36	JJLAB	ss2019979951	Sep 14, 2016 (149)
37	USC_VALOUEV	ss2148005916	Dec 20, 2016 (150)
38	HUMAN_LONGEVITY	ss2166664461	Dec 20, 2016 (150)
39	ILLUMINA	ss2632577900	Nov 08, 2017 (151)
40	ILLUMINA	ss2632577901	Nov 08, 2017 (151)
41	ILLUMINA	ss2710683252	Nov 08, 2017 (151)
42	GNOMAD	ss2731950635	Nov 08, 2017 (151)
43	GNOMAD	ss2746467046	Nov 08, 2017 (151)
44	GNOMAD	ss2761496302	Nov 08, 2017 (151)
45	AFFY	ss2984880659	Nov 08, 2017 (151)
46	AFFY	ss2985525703	Nov 08, 2017 (151)
47	SWEGEN	ss2987776571	Nov 08, 2017 (151)
48	ILLUMINA	ss3021138929	Nov 08, 2017 (151)
49	CSHL	ss3343716144	Nov 08, 2017 (151)
50	ILLUMINA	ss3626212537	Oct 11, 2018 (152)
51	ILLUMINA	ss3634351334	Oct 11, 2018 (152)
52	ILLUMINA	ss3640058688	Oct 11, 2018 (152)
53	ILLUMINA	ss3641617379	Oct 11, 2018 (152)
54	ILLUMINA	ss3644506548	Oct 11, 2018 (152)
55	OMUKHERJEE_ADBS	ss3646246737	Oct 11, 2018 (152)
56	ILLUMINA	ss3651474044	Oct 11, 2018 (152)
57	ILLUMINA	ss3653649905	Oct 11, 2018 (152)
58	EGCUT_WGS	ss3655715721	Jul 12, 2019 (153)
59	EVA_DECODE	ss3687812160	Jul 12, 2019 (153)
60	ACPOP	ss3727496661	Jul 12, 2019 (153)
61	ILLUMINA	ss3744652239	Jul 12, 2019 (153)
62	PAGE_CC	ss3770842900	Jul 12, 2019 (153)
63	KHV_HUMAN_GENOMES	ss3799824454	Jul 12, 2019 (153)
64	EVA	ss3823670374	Apr 25, 2020 (154)
65	EVA	ss3825577128	Apr 25, 2020 (154)
66	EVA	ss3826430556	Apr 25, 2020 (154)
67	SGDP_PRJ	ss3850034989	Apr 25, 2020 (154)
68	KRGDB	ss3895252334	Apr 25, 2020 (154)
69	FSA-LAB	ss3983948755	Apr 25, 2021 (155)
70	EVA	ss3984465050	Apr 25, 2021 (155)
71	EVA	ss3986141307	Apr 25, 2021 (155)
72	TOPMED	ss4468853283	Apr 25, 2021 (155)
73	EVA	ss5236874330	Apr 25, 2021 (155)
74	EVA	ss5237274263	Apr 25, 2021 (155)
75	EVA	ss5237633030	Oct 12, 2022 (156)
76	1000G_HIGH_COVERAGE	ss5244344631	Oct 12, 2022 (156)
77	TRAN_CS_UWATERLOO	ss5314397610	Oct 12, 2022 (156)
78	EVA	ss5322146650	Oct 12, 2022 (156)
79	HUGCELL_USP	ss5444931663	Oct 12, 2022 (156)
80	1000G_HIGH_COVERAGE	ss5517698696	Oct 12, 2022 (156)
81	EVA	ss5623890668	Oct 12, 2022 (156)
82	SANFORD_IMAGENETICS	ss5624218454	Oct 12, 2022 (156)
83	SANFORD_IMAGENETICS	ss5626618493	Oct 12, 2022 (156)
84	EVA	ss5832684493	Oct 12, 2022 (156)
85	EVA	ss5847167100	Oct 12, 2022 (156)
86	EVA	ss5847557692	Oct 12, 2022 (156)
87	EVA	ss5848274200	Oct 12, 2022 (156)
88	EVA	ss5910303146	Oct 12, 2022 (156)
89	EVA	ss5935531642	Oct 12, 2022 (156)
90	EVA	ss5938413107	Oct 12, 2022 (156)
91	EVA	ss5979290819	Oct 12, 2022 (156)
92	EVA	ss5979991196	Oct 12, 2022 (156)
93	1000Genomes	NC_000001.10 - 156848918	Oct 11, 2018 (152)
94	1000Genomes_30x	NC_000001.11 - 156879126	Oct 12, 2022 (156)
95	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 156848918	Oct 11, 2018 (152)
96	Genetic variation in the Estonian population	NC_000001.10 - 156848918	Oct 11, 2018 (152)
97	ExAC	NC_000001.10 - 156848918	Oct 11, 2018 (152)
98	FINRISK	NC_000001.10 - 156848918	Apr 25, 2020 (154)
99	The Danish reference pan genome	NC_000001.10 - 156848918	Apr 25, 2020 (154)
100	gnomAD - Genomes	NC_000001.11 - 156879126	Apr 25, 2021 (155)
101	gnomAD - Exomes	NC_000001.10 - 156848918	Jul 12, 2019 (153)
102	Genome of the Netherlands Release 5	NC_000001.10 - 156848918	Apr 25, 2020 (154)
103	HapMap	NC_000001.11 - 156879126	Apr 25, 2020 (154)
104	KOREAN population from KRGDB	NC_000001.10 - 156848918	Apr 25, 2020 (154)
105	Medical Genome Project healthy controls from Spanish population	NC_000001.10 - 156848918	Apr 25, 2020 (154)
106	Northern Sweden	NC_000001.10 - 156848918	Jul 12, 2019 (153)
107	The PAGE Study	NC_000001.11 - 156879126	Jul 12, 2019 (153)
108	CNV burdens in cranial meningiomas	NC_000001.10 - 156848918	Apr 25, 2021 (155)
109	Qatari	NC_000001.10 - 156848918	Apr 25, 2020 (154)
110	SGDP_PRJ	NC_000001.10 - 156848918	Apr 25, 2020 (154)
111	Siberian	NC_000001.10 - 156848918	Apr 25, 2020 (154)
112	TopMed	NC_000001.11 - 156879126	Apr 25, 2021 (155)
113	UK 10K study - Twins	NC_000001.10 - 156848918	Oct 11, 2018 (152)
114	ALFA	NC_000001.11 - 156879126	Apr 25, 2021 (155)
115	ClinVar	RCV000013100.25	Jul 12, 2019 (153)
116	ClinVar	RCV000030667.26	Jul 12, 2019 (153)
117	ClinVar	RCV000030674.21	Oct 12, 2022 (156)
118	ClinVar	RCV000592514.12	Oct 12, 2022 (156)
119	ClinVar	RCV000712453.3	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)
rs17838190	Oct 07, 2004 (123)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss5935531642	NC_000001.10:156848917:C:A	NC_000001.11:156879125:C:A
ss5935531642	NC_000001.10:156848917:C:G	NC_000001.11:156879125:C:G
ss290639309, ss482110777, ss491606370, ss1585078564	NC_000001.9:155115541:C:T	NC_000001.11:156879125:C:T	(self)
3778077, 2053937, 1453969, 5063789, 8252, 1712921, 974504, 891018, 2429728, 43965, 781526, 14366, 972032, 2051969, 522270, 2053937, ss230736096, ss342001174, ss479871291, ss489769818, ss491303327, ss780702083, ss781089489, ss783376383, ss975696378, ss1067427110, ss1068278034, ss1292983999, ss1574399195, ss1584011791, ss1601243475, ss1644237508, ss1685842538, ss1710927213, ss1918930102, ss1958320293, ss1958320294, ss2019979951, ss2148005916, ss2632577900, ss2632577901, ss2710683252, ss2731950635, ss2746467046, ss2761496302, ss2984880659, ss2985525703, ss2987776571, ss3021138929, ss3343716144, ss3626212537, ss3634351334, ss3640058688, ss3641617379, ss3644506548, ss3646246737, ss3651474044, ss3653649905, ss3655715721, ss3727496661, ss3744652239, ss3823670374, ss3825577128, ss3826430556, ss3850034989, ss3895252334, ss3983948755, ss3984465050, ss3986141307, ss5237274263, ss5322146650, ss5623890668, ss5624218454, ss5626618493, ss5832684493, ss5847167100, ss5847557692, ss5848274200, ss5935531642, ss5938413107, ss5979290819, ss5979991196	NC_000001.10:156848917:C:T	NC_000001.11:156879125:C:T	(self)
RCV000013100.25, RCV000030667.26, RCV000030674.21, RCV000592514.12, RCV000712453.3, 5224631, 27515176, 178768, 64369, 32459618, 11636204477, ss169655889, ss169657403, ss184955867, ss2166664461, ss3687812160, ss3770842900, ss3799824454, ss4468853283, ss5236874330, ss5237633030, ss5244344631, ss5314397610, ss5444931663, ss5517698696, ss5910303146	NC_000001.11:156879125:C:T	NC_000001.11:156879125:C:T	(self)
ss76898536	NT_004487.18:7339272:C:T	NC_000001.11:156879125:C:T	(self)
ss7964, ss6416724, ss28447275, ss68780856, ss74800725, ss102786643	NT_004487.19:8337559:C:T	NC_000001.11:156879125:C:T	(self)

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

11 citations for rs6336

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
18780967	SNPs in neurotrophin system genes and Alzheimer's disease in an Italian population.	Cozza A et al.	2008	Journal of Alzheimer's disease
19435634	Three-cohort targeted gene screening reveals a non-synonymous TRKA polymorphism associated with schizophrenia.	van Schijndel JE et al.	2009	Journal of psychiatric research
20301726	NTRK1 Congenital Insensitivity to Pain with Anhidrosis.	Indo Y et al.	1993	GeneReviews(®)
21317683	Dual association of a TRKA polymorphism with schizophrenia.	Van Schijndel JE et al.	2011	Psychiatric genetics
28127926	5-HTTLPR and DISC1 risk genotypes for elevated PTSD symptoms in US military veterans.	Young KA et al.	2017	World psychiatry

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

rs6336