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rs121913054

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913054(G;T)
Make rs121913054(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position196677613
GeneCFH
is asnp
is mentioned by
dbSNPrs121913054
ebirs121913054
HLIrs121913054
Exacrs121913054
Varsomers121913054
Maprs121913054
PheGenIrs121913054
hapmaprs121913054
1000 genomesrs121913054
hgdprs121913054
ensemblrs121913054
gopubmedrs121913054
geneviewrs121913054
scholarrs121913054
googlers121913054
pharmgkbrs121913054
gwascentralrs121913054
openSNPrs121913054
23andMers121913054
23andMe allrs121913054
SNP Nexus

SNPshotrs121913054
SNPdbers121913054
MSV3drs121913054
GWAS Ctlgrs121913054
Max Magnitude0
OMIM134370
Desc
Variant0006
Relatedalso
ClinVar
Risk rs121913054(A,T;A,T)
Alt rs121913054(A,T;A,T)
Reference rs121913054(G;G)
Significance Pathogenic
Disease Factor H deficiency
Variation info
Gene CFH
CLNDBN Factor H deficiency
Reversed 0
HGVS NC_000001.10:g.196646743G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018013.29,