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rs121913053

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs121913053(A;A)
Make rs121913053(A;G)
ReferenceGRCh38 38.1/141
Chromosome1
Position196740712
GeneCFH
is asnp
is mentioned by
dbSNPrs121913053
ebirs121913053
HLIrs121913053
Exacrs121913053
Varsomers121913053
Maprs121913053
PheGenIrs121913053
hapmaprs121913053
1000 genomesrs121913053
hgdprs121913053
ensemblrs121913053
gopubmedrs121913053
geneviewrs121913053
scholarrs121913053
googlers121913053
pharmgkbrs121913053
gwascentralrs121913053
openSNPrs121913053
23andMers121913053
23andMe allrs121913053
SNP Nexus

SNPshotrs121913053
SNPdbers121913053
MSV3drs121913053
GWAS Ctlgrs121913053
Max Magnitude0
OMIM134370
Desc
Variant0003
Relatedalso
ClinVar
Risk rs121913053(A;A)
Alt rs121913053(A;A)
Reference rs121913053(G;G)
Significance Pathogenic
Disease Factor H deficiency
Variation info
Gene CFH
CLNDBN Factor H deficiency
Reversed 0
HGVS NC_000001.10:g.196709842G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000018010.28,