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rs765462548

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs765462548(C;T)
Make rs765462548(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position103898989
GeneOBFC1, STN1
is asnp
is mentioned by
dbSNPrs765462548
dbSNP (classic)rs765462548
ClinGenrs765462548
ebirs765462548
HLIrs765462548
Exacrs765462548
Gnomadrs765462548
Varsomers765462548
LitVarrs765462548
Maprs765462548
PheGenIrs765462548
Biobankrs765462548
1000 genomesrs765462548
hgdprs765462548
ensemblrs765462548
geneviewrs765462548
scholarrs765462548
googlers765462548
pharmgkbrs765462548
gwascentralrs765462548
openSNPrs765462548
23andMers765462548
SNPshotrs765462548
SNPdbers765462548
MSV3drs765462548
GWAS Ctlgrs765462548
Max Magnitude0
ClinVar
Risk rs765462548(A;A) rs765462548(T;T)
Alt rs765462548(A;A) rs765462548(T;T)
Reference Rs765462548(C;C)
Significance Pathogenic
Disease Cerebroretinal microangiopathy with calcifications and cysts 2
Variation info
Gene OBFC1
CLNDBN Cerebroretinal microangiopathy with calcifications and cysts 2
Reversed 0
HGVS NC_000010.10:g.105658747C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000417070.1,