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rs121913059

From SNPedia

Orientationplus
Stabilizedplus
Make rs121913059(C;C)
Make rs121913059(C;T)
Make rs121913059(T;T)
ReferenceGRCh38 38.1/141
Chromosome1
Position196747245
GeneCFH
is asnp
is mentioned by
dbSNPrs121913059
dbSNP (old)rs121913059
ClinGenrs121913059
ebirs121913059
HLIrs121913059
Exacrs121913059
Gnomadrs121913059
Varsomers121913059
Maprs121913059
PheGenIrs121913059
Biobankrs121913059
1000 genomesrs121913059
hgdprs121913059
ensemblrs121913059
gopubmedrs121913059
geneviewrs121913059
scholarrs121913059
googlers121913059
pharmgkbrs121913059
gwascentralrs121913059
openSNPrs121913059
23andMers121913059
23andMe allrs121913059
SNP Nexus

SNPshotrs121913059
SNPdbers121913059
MSV3drs121913059
GWAS Ctlgrs121913059
Max Magnitude
OMIM134370
Desc
Variant0017
Relatedalso
ClinVar
Risk rs121913059(T;T)
Alt rs121913059(T;T)
Reference rs121913059(C;C)
Significance Other
Disease Factor H deficiency Atypical hemolytic-uremic syndrome 1 Age-related macular degeneration 4
Variation info
Gene CFH
CLNDBN Factor H deficiency Atypical hemolytic-uremic syndrome 1 Age-related macular degeneration 4
Reversed 0
HGVS NC_000001.10:g.196716375C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000018025.28, RCV000018026.7, RCV000022540.7,



[PMID 26215151] Complement factor H R1210C among Japanese patients with age-related macular degeneration