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rs373905859

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs373905859(A;A)
Make rs373905859(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position8231427
GeneCTC1
is asnp
is mentioned by
dbSNPrs373905859
dbSNP (classic)rs373905859
ClinGenrs373905859
ebirs373905859
HLIrs373905859
Exacrs373905859
Gnomadrs373905859
Varsomers373905859
LitVarrs373905859
Maprs373905859
PheGenIrs373905859
Biobankrs373905859
1000 genomesrs373905859
hgdprs373905859
ensemblrs373905859
geneviewrs373905859
scholarrs373905859
googlers373905859
pharmgkbrs373905859
gwascentralrs373905859
openSNPrs373905859
23andMers373905859
SNPshotrs373905859
SNPdbers373905859
MSV3drs373905859
GWAS Ctlgrs373905859
Max Magnitude0
ClinVar
Risk rs373905859(A;A)
Alt rs373905859(A;A)
Reference Rs373905859(G;G)
Significance Pathogenic
Disease Cerebroretinal microangiopathy with calcifications and cysts 1
Variation info
Gene CTC1
CLNDBN Cerebroretinal microangiopathy with calcifications and cysts 1
Reversed 0
HGVS NC_000017.10:g.8134745G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000023990.4,