rs121964920

Orientation

plus

Stabilized

plus

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

Make rs121964920(A;A)

Make rs121964920(A;C)

Reference

GRCh38 38.1/141

Chromosome

5

Position

40959520

Gene

C7

is a	snp
is	mentioned by
dbSNP	rs121964920
dbSNP (classic)	rs121964920
ClinGen	rs121964920
ebi	rs121964920
HLI	rs121964920
Exac	rs121964920
Gnomad	rs121964920
Varsome	rs121964920
LitVar	rs121964920
Map	rs121964920
PheGenI	rs121964920
Biobank	rs121964920
1000 genomes	rs121964920
hgdp	rs121964920
ensembl	rs121964920
geneview	rs121964920
scholar	rs121964920
google	rs121964920
pharmgkb	rs121964920
gwascentral	rs121964920
openSNP	rs121964920
23andMe	rs121964920
SNPshot	rs121964920
SNPdbe	rs121964920
MSV3d	rs121964920
GWAS Ctlg	rs121964920

GMAF

0.001377

Max Magnitude

0

OMIM	217070
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121964920(A;A) rs121964920(T;T)
Alt	rs121964920(A;A) rs121964920(T;T)
Reference	Rs121964920(C;C)
Significance	Pathogenic
Disease	Complement component 7 deficiency C7 and C6 deficiency
Variation	info
Gene	C7
CLNDBN	Complement component 7 deficiency C7 and C6 deficiency, combined subtotal
Reversed	0
HGVS	NC_000005.9:g.40959622C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000012887.23, RCV000012888.23,