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rs749094914

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs749094914(C;T)
Make rs749094914(T;T)
ReferenceGRCh38.p2 38.2/147
Chromosome16
Position70698729
GeneVAC14
is asnp
is mentioned by
dbSNPrs749094914
dbSNP (classic)rs749094914
ClinGenrs749094914
ebirs749094914
HLIrs749094914
Exacrs749094914
Gnomadrs749094914
Varsomers749094914
LitVarrs749094914
Maprs749094914
PheGenIrs749094914
Biobankrs749094914
1000 genomesrs749094914
hgdprs749094914
ensemblrs749094914
geneviewrs749094914
scholarrs749094914
googlers749094914
pharmgkbrs749094914
gwascentralrs749094914
openSNPrs749094914
23andMers749094914
SNPshotrs749094914
SNPdbers749094914
MSV3drs749094914
GWAS Ctlgrs749094914
Max Magnitude0
ClinVar
Risk rs749094914(A;A) rs749094914(T;T)
Alt rs749094914(A;A) rs749094914(T;T)
Reference Rs749094914(C;C)
Significance Pathogenic
Disease Striatonigral degeneration
Variation info
Gene VAC14
CLNDBN Striatonigral degeneration, childhood-onset
Reversed 0
HGVS NC_000016.9:g.70732632C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000239537.1,