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rs80356676

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
(GCC;GCC) 0 common in clinvar
Make rs80356676(-;-)
Make rs80356676(-;T)
Make rs80356676(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position156879176
GeneNTRK1
is asnp
is mentioned by
dbSNPrs80356676
ebirs80356676
HLIrs80356676
Exacrs80356676
Varsomers80356676
Maprs80356676
PheGenIrs80356676
hapmaprs80356676
1000 genomesrs80356676
hgdprs80356676
ensemblrs80356676
gopubmedrs80356676
geneviewrs80356676
scholarrs80356676
googlers80356676
pharmgkbrs80356676
gwascentralrs80356676
openSNPrs80356676
23andMers80356676
23andMe allrs80356676
SNP Nexus

SNPshotrs80356676
SNPdbers80356676
MSV3drs80356676
GWAS Ctlgrs80356676
Max Magnitude0
ClinVar
Risk rs80356676(T;T)
Alt rs80356676(T;T)
Reference rs80356676(GCC;GCC)
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.156848968_156848969insT
CLNSRC ClinVar GeneReviews
CLNACC RCV000020469.1,


[PMID 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.


[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.