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rs371295780

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs371295780(A;G)
Make rs371295780(G;G)
ReferenceGRCh38.p2 38.2/146
Chromosome14
Position96847326
GeneVRK1
is asnp
is mentioned by
dbSNPrs371295780
dbSNP (old)rs371295780
ClinGenrs371295780
ebirs371295780
HLIrs371295780
Exacrs371295780
Gnomadrs371295780
Varsomers371295780
Maprs371295780
PheGenIrs371295780
Biobankrs371295780
1000 genomesrs371295780
hgdprs371295780
ensemblrs371295780
gopubmedrs371295780
geneviewrs371295780
scholarrs371295780
googlers371295780
pharmgkbrs371295780
gwascentralrs371295780
openSNPrs371295780
23andMers371295780
23andMe allrs371295780
SNP Nexus

SNPshotrs371295780
SNPdbers371295780
MSV3drs371295780
GWAS Ctlgrs371295780
Max Magnitude0
ClinVar
Risk rs371295780(G;G)
Alt rs371295780(G;G)
Reference Rs371295780(A;A)
Significance Probable-Pathogenic
Disease Pontocerebellar hypoplasia type 1A
Variation info
Gene VRK1
CLNDBN Pontocerebellar hypoplasia type 1A
Reversed 0
HGVS NC_000014.8:g.97313663A>G
CLNSRC Baylor College of Medicine
CLNACC RCV000191143.1,