rs140813121

Orientation

plus

Stabilized

plus

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

Make rs140813121(A;A)

Make rs140813121(A;G)

Reference

GRCh38 38.1/141

Chromosome

1

Position

56949599

Gene

C8B

is a	snp
is	mentioned by
dbSNP	rs140813121
dbSNP (classic)	rs140813121
ClinGen	rs140813121
ebi	rs140813121
HLI	rs140813121
Exac	rs140813121
Gnomad	rs140813121
Varsome	rs140813121
LitVar	rs140813121
Map	rs140813121
PheGenI	rs140813121
Biobank	rs140813121
1000 genomes	rs140813121
hgdp	rs140813121
ensembl	rs140813121
geneview	rs140813121
scholar	rs140813121
google	rs140813121
pharmgkb	rs140813121
gwascentral	rs140813121
openSNP	rs140813121
23andMe	rs140813121
SNPshot	rs140813121
SNPdbe	rs140813121
MSV3d	rs140813121
GWAS Ctlg	rs140813121

GMAF

0.0004591

Max Magnitude

0

ClinVar
Risk	rs140813121(A;A)
Alt	rs140813121(A;A)
Reference	Rs140813121(G;G)
Significance	Pathogenic
Disease	Complement component 8 deficiency type 2
Variation	info
Gene	C8B
CLNDBN	Complement component 8 deficiency type 2
Reversed	0
HGVS	NC_000001.10:g.57415272G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000029237.27,