rs121913053

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(G;G)	0	common in clinvar

Make rs121913053(A;A)

Make rs121913053(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

196740712

Gene

CFH

is a	snp
is	mentioned by
dbSNP	rs121913053
dbSNP (classic)	rs121913053
ClinGen	rs121913053
ebi	rs121913053
HLI	rs121913053
Exac	rs121913053
Gnomad	rs121913053
Varsome	rs121913053
LitVar	rs121913053
Map	rs121913053
PheGenI	rs121913053
Biobank	rs121913053
1000 genomes	rs121913053
hgdp	rs121913053
ensembl	rs121913053
geneview	rs121913053
scholar	rs121913053
google	rs121913053
pharmgkb	rs121913053
gwascentral	rs121913053
openSNP	rs121913053
23andMe	rs121913053
SNPshot	rs121913053
SNPdbe	rs121913053
MSV3d	rs121913053
GWAS Ctlg	rs121913053

Max Magnitude

0

OMIM	134370
Desc
Variant	0003
Related	also

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,