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rs387907080

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs387907080(A;A)
Make rs387907080(A;G)
ReferenceGRCh38 38.1/141
Chromosome17
Position8237392
GeneCTC1
is asnp
is mentioned by
dbSNPrs387907080
ebirs387907080
HLIrs387907080
Exacrs387907080
Varsomers387907080
Maprs387907080
PheGenIrs387907080
hapmaprs387907080
1000 genomesrs387907080
hgdprs387907080
ensemblrs387907080
gopubmedrs387907080
geneviewrs387907080
scholarrs387907080
googlers387907080
pharmgkbrs387907080
gwascentralrs387907080
openSNPrs387907080
23andMers387907080
23andMe allrs387907080
SNP Nexus

SNPshotrs387907080
SNPdbers387907080
MSV3drs387907080
GWAS Ctlgrs387907080
Max Magnitude0
ClinVar
Risk rs387907080(A;A)
Alt rs387907080(A;A)
Reference rs387907080(G;G)
Significance Pathogenic
Disease Cerebroretinal microangiopathy with calcifications and cysts
Variation info
Gene CTC1
CLNDBN Cerebroretinal microangiopathy with calcifications and cysts
Reversed 1
HGVS NC_000017.10:g.8140710C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000023989.3,