rs121909593

Orientation

minus

Stabilized

minus

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

Make rs121909593(G;G)

Make rs121909593(G;T)

Reference

GRCh38 38.1/142

Chromosome

5

Position

39341267

Gene

C9

is a	snp
is	mentioned by
dbSNP	rs121909593
dbSNP (classic)	rs121909593
ClinGen	rs121909593
ebi	rs121909593
HLI	rs121909593
Exac	rs121909593
Gnomad	rs121909593
Varsome	rs121909593
LitVar	rs121909593
Map	rs121909593
PheGenI	rs121909593
Biobank	rs121909593
1000 genomes	rs121909593
hgdp	rs121909593
ensembl	rs121909593
geneview	rs121909593
scholar	rs121909593
google	rs121909593
pharmgkb	rs121909593
gwascentral	rs121909593
openSNP	rs121909593
23andMe	rs121909593
SNPshot	rs121909593
SNPdbe	rs121909593
MSV3d	rs121909593
GWAS Ctlg	rs121909593

Max Magnitude

0

OMIM	120940
Desc
Variant	0003
Related	also

ClinVar
Risk	rs121909593(G;G)
Alt	rs121909593(G;G)
Reference	Rs121909593(T;T)
Significance	Pathogenic
Disease	Complement component 9 deficiency
Variation	info
Gene	C9
CLNDBN	Complement component 9 deficiency
Reversed	1
HGVS	NC_000005.9:g.39341369A>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000018570.29,