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rs80356673

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356673(C;T)
Make rs80356673(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position156860959
GeneNTRK1
is asnp
is mentioned by
dbSNPrs80356673
ebirs80356673
HLIrs80356673
Exacrs80356673
Varsomers80356673
Maprs80356673
PheGenIrs80356673
hapmaprs80356673
1000 genomesrs80356673
hgdprs80356673
ensemblrs80356673
gopubmedrs80356673
geneviewrs80356673
scholarrs80356673
googlers80356673
pharmgkbrs80356673
gwascentralrs80356673
openSNPrs80356673
23andMers80356673
23andMe allrs80356673
SNP Nexus

SNPshotrs80356673
SNPdbers80356673
MSV3drs80356673
GWAS Ctlgrs80356673
Max Magnitude0
OMIM191315
Desc
Variant0005
Relatedalso
ClinVar
Risk rs80356673(T;T)
Alt rs80356673(T;T)
Reference rs80356673(C;C)
Significance Pathogenic
Disease Hereditary insensitivity to pain with anhidrosis
Variation info
Gene NTRK1
CLNDBN Hereditary insensitivity to pain with anhidrosis
Reversed 0
HGVS NC_000001.10:g.156830751C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000030667.24, RCV000031917.1,


[PMID 10330344OA-icon.png] Congenital insensitivity to pain with anhidrosis: novel mutations in the TRKA (NTRK1) gene encoding a high-affinity receptor for nerve growth factor.