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rs202138550

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs202138550(A;A)
Make rs202138550(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position8229943
GeneCTC1
is asnp
is mentioned by
dbSNPrs202138550
ebirs202138550
HLIrs202138550
Exacrs202138550
Varsomers202138550
Maprs202138550
PheGenIrs202138550
hapmaprs202138550
1000 genomesrs202138550
hgdprs202138550
ensemblrs202138550
gopubmedrs202138550
geneviewrs202138550
scholarrs202138550
googlers202138550
pharmgkbrs202138550
gwascentralrs202138550
openSNPrs202138550
23andMers202138550
23andMe allrs202138550
SNP Nexus

SNPshotrs202138550
SNPdbers202138550
MSV3drs202138550
GWAS Ctlgrs202138550
GMAF0.0
Max Magnitude0
ClinVar
Risk rs202138550(A;A)
Alt rs202138550(A;A)
Reference rs202138550(G;G)
Significance Pathogenic
Disease Cerebroretinal microangiopathy with calcifications and cysts
Variation info
Gene CTC1
CLNDBN Cerebroretinal microangiopathy with calcifications and cysts
Reversed 0
HGVS NC_000017.10:g.8133261G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000023987.3,