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rs80356677

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs80356677(G;T)
Make rs80356677(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position156879336
GeneNTRK1
is asnp
is mentioned by
dbSNPrs80356677
ebirs80356677
HLIrs80356677
Exacrs80356677
Varsomers80356677
Maprs80356677
PheGenIrs80356677
hapmaprs80356677
1000 genomesrs80356677
hgdprs80356677
ensemblrs80356677
gopubmedrs80356677
geneviewrs80356677
scholarrs80356677
googlers80356677
pharmgkbrs80356677
gwascentralrs80356677
openSNPrs80356677
23andMers80356677
23andMe allrs80356677
SNP Nexus

SNPshotrs80356677
SNPdbers80356677
MSV3drs80356677
GWAS Ctlgrs80356677
GMAF0.0004591
Max Magnitude0
ClinVar
Risk rs80356677(T;T)
Alt rs80356677(T;T)
Reference rs80356677(G;G)
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.156849128G>T
CLNSRC ClinVar GeneReviews
CLNACC RCV000020470.1,


[PMID 11668614] Congenital insensitivity to pain with anhidrosis (CIPA): novel mutations of the TRKA (NTRK1) gene, a putative uniparental disomy, and a linkage of the mutant TRKA and PKLR genes in a family with CIPA and pyruvate kinase deficiency.