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rs121964868

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121964868(C;T)
Make rs121964868(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position156880036
GeneNTRK1
is asnp
is mentioned by
dbSNPrs121964868
dbSNP (classic)rs121964868
ClinGenrs121964868
ebirs121964868
HLIrs121964868
Exacrs121964868
Gnomadrs121964868
Varsomers121964868
LitVarrs121964868
Maprs121964868
PheGenIrs121964868
Biobankrs121964868
1000 genomesrs121964868
hgdprs121964868
ensemblrs121964868
geneviewrs121964868
scholarrs121964868
googlers121964868
pharmgkbrs121964868
gwascentralrs121964868
openSNPrs121964868
23andMers121964868
SNPshotrs121964868
SNPdbers121964868
MSV3drs121964868
GWAS Ctlgrs121964868
Max Magnitude0
OMIM191315
Desc
Variant0011
Relatedalso
ClinVar
Risk rs121964868(T;T)
Alt rs121964868(T;T)
Reference Rs121964868(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.156849828C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000013103.25,