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rs121913061

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs121913061(C;T)
Make rs121913061(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position196690125
GeneCFH
is asnp
is mentioned by
dbSNPrs121913061
ebirs121913061
HLIrs121913061
Exacrs121913061
Varsomers121913061
Maprs121913061
PheGenIrs121913061
hapmaprs121913061
1000 genomesrs121913061
hgdprs121913061
ensemblrs121913061
gopubmedrs121913061
geneviewrs121913061
scholarrs121913061
googlers121913061
pharmgkbrs121913061
gwascentralrs121913061
openSNPrs121913061
23andMers121913061
23andMe allrs121913061
SNP Nexus

SNPshotrs121913061
SNPdbers121913061
MSV3drs121913061
GWAS Ctlgrs121913061
Max Magnitude0
OMIM134370
Desc
Variant0019
Relatedalso
ClinVar
Risk rs121913061(T;T)
Alt rs121913061(T;T)
Reference rs121913061(C;C)
Significance Pathogenic
Disease Basal laminar drusen
Variation info
Gene CFH
CLNDBN Basal laminar drusen
Reversed 0
HGVS NC_000001.10:g.196659255C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018028.24,