rs118204113

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

119092506

Gene

HMBS

is a	snp
is	mentioned by
dbSNP	rs118204113
dbSNP (classic)	rs118204113
ClinGen	rs118204113
ebi	rs118204113
HLI	rs118204113
Exac	rs118204113
Gnomad	rs118204113
Varsome	rs118204113
LitVar	rs118204113
Map	rs118204113
PheGenI	rs118204113
Biobank	rs118204113
1000 genomes	rs118204113
hgdp	rs118204113
ensembl	rs118204113
geneview	rs118204113
scholar	rs118204113
google	rs118204113
pharmgkb	rs118204113
gwascentral	rs118204113
openSNP	rs118204113
23andMe	rs118204113
SNPshot	rs118204113
SNPdbe	rs118204113
MSV3d	rs118204113
GWAS Ctlg	rs118204113

Max Magnitude

5

OMIM	609806
Desc
Variant	0032
Related	also

ClinVar
Risk	Rs118204113(A;A)
Alt	Rs118204113(A;A)
Reference	Rs118204113(G;G)
Significance	Pathogenic
Disease	Acute intermittent porphyria
Variation	info
Gene	HMBS
CLNDBN	Acute intermittent porphyria
Reversed	0
HGVS	NC_000011.9:g.118963216G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001537.3,