rs118204116

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	5	Porphyria, acute intermittent
(A;G)	4	Acute intermittent porphyria
(G;G)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

11

Position

119092159

Gene

HMBS

is a	snp
is	mentioned by
dbSNP	rs118204116
dbSNP (classic)	rs118204116
ClinGen	rs118204116
ebi	rs118204116
HLI	rs118204116
Exac	rs118204116
Gnomad	rs118204116
Varsome	rs118204116
LitVar	rs118204116
Map	rs118204116
PheGenI	rs118204116
Biobank	rs118204116
1000 genomes	rs118204116
hgdp	rs118204116
ensembl	rs118204116
geneview	rs118204116
scholar	rs118204116
google	rs118204116
pharmgkb	rs118204116
gwascentral	rs118204116
openSNP	rs118204116
23andMe	rs118204116
SNPshot	rs118204116
SNPdbe	rs118204116
MSV3d	rs118204116
GWAS Ctlg	rs118204116

Max Magnitude

5

OMIM	609806
Desc
Variant	0038
Related	also

ClinVar
Risk	Rs118204116(A;A)
Alt	Rs118204116(A;A)
Reference	Rs118204116(G;G)
Significance	Pathogenic
Disease	Acute intermittent porphyria
Variation	info
Gene	HMBS
CLNDBN	Acute intermittent porphyria
Reversed	0
HGVS	NC_000011.9:g.118962869G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001543.2,