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rs1057519583

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519583(C;C)
Make rs1057519583(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position103900115
GeneOBFC1, STN1
is asnp
is mentioned by
dbSNPrs1057519583
dbSNP (old)rs1057519583
ClinGenrs1057519583
ebirs1057519583
HLIrs1057519583
Exacrs1057519583
Gnomadrs1057519583
Varsomers1057519583
Maprs1057519583
PheGenIrs1057519583
Biobankrs1057519583
1000 genomesrs1057519583
hgdprs1057519583
ensemblrs1057519583
gopubmedrs1057519583
geneviewrs1057519583
scholarrs1057519583
googlers1057519583
pharmgkbrs1057519583
gwascentralrs1057519583
openSNPrs1057519583
23andMers1057519583
23andMe allrs1057519583
SNPshotrs1057519583
SNPdbers1057519583
MSV3drs1057519583
GWAS Ctlgrs1057519583
Max Magnitude0
ClinVar
Risk rs1057519583(C;C)
Alt rs1057519583(C;C)
Reference Rs1057519583(G;G)
Significance Pathogenic
Disease Cerebroretinal microangiopathy with calcifications and cysts 2
Variation info
Gene STN1
CLNDBN Cerebroretinal microangiopathy with calcifications and cysts 2
Reversed 1
HGVS NC_000010.10:g.105659873C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000417067.1,