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rs201455840

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs201455840(A;G)
Make rs201455840(G;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position8228592
GeneCTC1
is asnp
is mentioned by
dbSNPrs201455840
dbSNP (classic)rs201455840
ClinGenrs201455840
ebirs201455840
HLIrs201455840
Exacrs201455840
Gnomadrs201455840
Varsomers201455840
LitVarrs201455840
Maprs201455840
PheGenIrs201455840
Biobankrs201455840
1000 genomesrs201455840
hgdprs201455840
ensemblrs201455840
geneviewrs201455840
scholarrs201455840
googlers201455840
pharmgkbrs201455840
gwascentralrs201455840
openSNPrs201455840
23andMers201455840
SNPshotrs201455840
SNPdbers201455840
MSV3drs201455840
GWAS Ctlgrs201455840
Max Magnitude0
ClinVar
Risk rs201455840(G;G) rs201455840(T;T)
Alt rs201455840(G;G) rs201455840(T;T)
Reference Rs201455840(A;A)
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.8131910A>T
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000023992.5,