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rs80356674

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs80356674(A;A)
Make rs80356674(A;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position156873600
GeneNTRK1
is asnp
is mentioned by
dbSNPrs80356674
ebirs80356674
HLIrs80356674
Exacrs80356674
Varsomers80356674
Maprs80356674
PheGenIrs80356674
hapmaprs80356674
1000 genomesrs80356674
hgdprs80356674
ensemblrs80356674
gopubmedrs80356674
geneviewrs80356674
scholarrs80356674
googlers80356674
pharmgkbrs80356674
gwascentralrs80356674
openSNPrs80356674
23andMers80356674
23andMe allrs80356674
SNP Nexus

SNPshotrs80356674
SNPdbers80356674
MSV3drs80356674
GWAS Ctlgrs80356674
Max Magnitude0
ClinVar
Risk rs80356674(A;A)
Alt rs80356674(A;A)
Reference rs80356674(T;T)
Significance Pathogenic
Disease Hereditary insensitivity to pain with anhidrosis Inborn genetic diseases
Variation info
Gene NTRK1
CLNDBN Hereditary insensitivity to pain with anhidrosis Inborn genetic diseases
Reversed 0
HGVS NC_000001.10:g.156843392T>A
CLNSRC ClinVar GeneReviews
CLNACC RCV000020471.1, RCV000190819.1,


[PMID 11748840] Molecular basis of congenital insensitivity to pain with anhidrosis (CIPA): mutations and polymorphisms in TRKA (NTRK1) gene encoding the receptor tyrosine kinase for nerve growth factor.