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rs121913056

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121913056(A;A)
Make rs121913056(A;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position196690194
GeneCFH
is asnp
is mentioned by
dbSNPrs121913056
ebirs121913056
HLIrs121913056
Exacrs121913056
Varsomers121913056
Maprs121913056
PheGenIrs121913056
hapmaprs121913056
1000 genomesrs121913056
hgdprs121913056
ensemblrs121913056
gopubmedrs121913056
geneviewrs121913056
scholarrs121913056
googlers121913056
pharmgkbrs121913056
gwascentralrs121913056
openSNPrs121913056
23andMers121913056
23andMe allrs121913056
SNP Nexus

SNPshotrs121913056
SNPdbers121913056
MSV3drs121913056
GWAS Ctlgrs121913056
Max Magnitude0
OMIM134370
Desc
Variant0010
Relatedalso
ClinVar
Risk rs121913056(A,G;A,G)
Alt rs121913056(A,G;A,G)
Reference rs121913056(T;T)
Significance Pathogenic
Disease Factor H deficiency
Variation info
Gene CFH
CLNDBN Factor H deficiency
Reversed 0
HGVS NC_000001.10:g.196659324T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018018.28,