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rs121913052

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs121913052(C;C)
Make rs121913052(C;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position196715679
GeneCFH
is asnp
is mentioned by
dbSNPrs121913052
ebirs121913052
HLIrs121913052
Exacrs121913052
Varsomers121913052
Maprs121913052
PheGenIrs121913052
hapmaprs121913052
1000 genomesrs121913052
hgdprs121913052
ensemblrs121913052
gopubmedrs121913052
geneviewrs121913052
scholarrs121913052
googlers121913052
pharmgkbrs121913052
gwascentralrs121913052
openSNPrs121913052
23andMers121913052
23andMe allrs121913052
SNP Nexus

SNPshotrs121913052
SNPdbers121913052
MSV3drs121913052
GWAS Ctlgrs121913052
Max Magnitude0
OMIM134370
Desc
Variant0002
Relatedalso
ClinVar
Risk rs121913052(C;C)
Alt rs121913052(C;C)
Reference rs121913052(T;T)
Significance Pathogenic
Disease Factor H deficiency
Variation info
Gene CFH
CLNDBN Factor H deficiency
Reversed 0
HGVS NC_000001.10:g.196684809T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000018009.28,