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rs121913062

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913062(G;T)
Make rs121913062(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position196743552
GeneCFH
is asnp
is mentioned by
dbSNPrs121913062
ebirs121913062
HLIrs121913062
Exacrs121913062
Varsomers121913062
Maprs121913062
PheGenIrs121913062
hapmaprs121913062
1000 genomesrs121913062
hgdprs121913062
ensemblrs121913062
gopubmedrs121913062
geneviewrs121913062
scholarrs121913062
googlers121913062
pharmgkbrs121913062
gwascentralrs121913062
openSNPrs121913062
23andMers121913062
23andMe allrs121913062
SNP Nexus

SNPshotrs121913062
SNPdbers121913062
MSV3drs121913062
GWAS Ctlgrs121913062
Max Magnitude0
OMIM134370
Desc
Variant0020
Relatedalso
ClinVar
Risk rs121913062(T;T)
Alt rs121913062(T;T)
Reference rs121913062(G;G)
Significance Pathogenic
Disease Basal laminar drusen
Variation info
Gene CFH
CLNDBN Basal laminar drusen
Reversed 0
HGVS NC_000001.10:g.196712682G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018029.28,