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rs121913059

From SNPedia

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 RCV000018025.27, RCV000018026.6, RCV000022540.6,



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