rs118204456

Orientation

minus

Stabilized

minus

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

Make rs118204456(A;A)

Make rs118204456(A;C)

Reference

GRCh38 38.1/141

Chromosome

5

Position

177404231

Gene	F12, SLC34A1

is a	snp
is	mentioned by
dbSNP	rs118204456
dbSNP (classic)	rs118204456
ClinGen	rs118204456
ebi	rs118204456
HLI	rs118204456
Exac	rs118204456
Gnomad	rs118204456
Varsome	rs118204456
LitVar	rs118204456
Map	rs118204456
PheGenI	rs118204456
Biobank	rs118204456
1000 genomes	rs118204456
hgdp	rs118204456
ensembl	rs118204456
geneview	rs118204456
scholar	rs118204456
google	rs118204456
pharmgkb	rs118204456
gwascentral	rs118204456
openSNP	rs118204456
23andMe	rs118204456
SNPshot	rs118204456
SNPdbe	rs118204456
MSV3d	rs118204456
GWAS Ctlg	rs118204456

Max Magnitude

0

OMIM	610619
Desc
Variant	0006
Related	also

OMIM	610619
Desc
Variant	0007
Related	also

ClinVar
Risk	rs118204456(A;A) rs118204456(G;G)
Alt	rs118204456(A;A) rs118204456(G;G)
Reference	Rs118204456(C;C)
Significance	Pathogenic
Disease	Hereditary angioneurotic edema with normal C1 esterase inhibitor activity Angioedema Hyperbilirubinemia Hypertension Urticaria Hereditary angioneurotic edema not provided
Variation	info
Gene	F12
CLNDBN	Hereditary angioneurotic edema with normal C1 esterase inhibitor activity Angioedema Hyperbilirubinemia Hypertension Urticaria Hereditary angioneurotic edema not provided
Reversed	1
HGVS	NC_000005.9:g.176831232G>C; NC_000005.9:g.176831232G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001229.3, RCV000414902.1, RCV000001228.3, RCV000222890.1, RCV000255869.1,