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rs80356675

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs80356675(-;-)
Make rs80356675(-;C)
ReferenceGRCh38 38.1/141
Chromosome1
Position156876427
GeneNTRK1
is asnp
is mentioned by
dbSNPrs80356675
ebirs80356675
HLIrs80356675
Exacrs80356675
Varsomers80356675
Maprs80356675
PheGenIrs80356675
hapmaprs80356675
1000 genomesrs80356675
hgdprs80356675
ensemblrs80356675
gopubmedrs80356675
geneviewrs80356675
scholarrs80356675
googlers80356675
pharmgkbrs80356675
gwascentralrs80356675
openSNPrs80356675
23andMers80356675
23andMe allrs80356675
SNP Nexus

SNPshotrs80356675
SNPdbers80356675
MSV3drs80356675
GWAS Ctlgrs80356675
Max Magnitude0
ClinVar
Risk rs80356675(;)
Alt rs80356675(;)
Reference rs80356675(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.156846219delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000020468.2,


[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.