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rs121913058

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913058(G;T)
Make rs121913058(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position196676018
GeneCFH
is asnp
is mentioned by
dbSNPrs121913058
dbSNP (classic)rs121913058
ClinGenrs121913058
ebirs121913058
HLIrs121913058
Exacrs121913058
Gnomadrs121913058
Varsomers121913058
LitVarrs121913058
Maprs121913058
PheGenIrs121913058
Biobankrs121913058
1000 genomesrs121913058
hgdprs121913058
ensemblrs121913058
geneviewrs121913058
scholarrs121913058
googlers121913058
pharmgkbrs121913058
gwascentralrs121913058
openSNPrs121913058
23andMers121913058
SNPshotrs121913058
SNPdbers121913058
MSV3drs121913058
GWAS Ctlgrs121913058
Max Magnitude0
OMIM134370
Desc
Variant0013
Relatedalso
ClinVar
Risk rs121913058(A;A) rs121913058(T;T)
Alt rs121913058(A;A) rs121913058(T;T)
Reference Rs121913058(G;G)
Significance Pathogenic
Disease Factor H deficiency
Variation info
Gene CFH
CLNDBN Factor H deficiency
Reversed 0
HGVS NC_000001.10:g.196645148G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018021.25,