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rs750014782

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs750014782(C;T)
Make rs750014782(T;T)
ReferenceGRCh38.p2 38.2/146
Chromosome7
Position56104221
GeneCHCHD2
is asnp
is mentioned by
dbSNPrs750014782
ebirs750014782
HLIrs750014782
Exacrs750014782
Varsomers750014782
Maprs750014782
PheGenIrs750014782
hapmaprs750014782
1000 genomesrs750014782
hgdprs750014782
ensemblrs750014782
gopubmedrs750014782
geneviewrs750014782
scholarrs750014782
googlers750014782
pharmgkbrs750014782
gwascentralrs750014782
openSNPrs750014782
23andMers750014782
23andMe allrs750014782
SNP Nexus

SNPshotrs750014782
SNPdbers750014782
MSV3drs750014782
GWAS Ctlgrs750014782
Max Magnitude0
ClinVar
Risk rs750014782(T;T)
Alt rs750014782(T;T)
Reference rs750014782(C;C)
Significance Pathogenic
Disease Parkinson disease 22
Variation info
Gene CHCHD2
CLNDBN Parkinson disease 22, autosomal dominant
Reversed 0
HGVS NC_000007.13:g.56171914C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000203226.1,