rs121913052

Orientation

plus

Stabilized

plus

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

Make rs121913052(C;C)

Make rs121913052(C;T)

Reference

GRCh38 38.1/141

Chromosome

1

Position

196715679

Gene

CFH

is a	snp
is	mentioned by
dbSNP	rs121913052
dbSNP (classic)	rs121913052
ClinGen	rs121913052
ebi	rs121913052
HLI	rs121913052
Exac	rs121913052
Gnomad	rs121913052
Varsome	rs121913052
LitVar	rs121913052
Map	rs121913052
PheGenI	rs121913052
Biobank	rs121913052
1000 genomes	rs121913052
hgdp	rs121913052
ensembl	rs121913052
geneview	rs121913052
scholar	rs121913052
google	rs121913052
pharmgkb	rs121913052
gwascentral	rs121913052
openSNP	rs121913052
23andMe	rs121913052
SNPshot	rs121913052
SNPdbe	rs121913052
MSV3d	rs121913052
GWAS Ctlg	rs121913052

Max Magnitude

0

OMIM	134370
Desc
Variant	0002
Related	also

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	RCV000018009.29,