rs118204096

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

119091432

Gene

HMBS

is a	snp
is	mentioned by
dbSNP	rs118204096
dbSNP (classic)	rs118204096
ClinGen	rs118204096
ebi	rs118204096
HLI	rs118204096
Exac	rs118204096
Gnomad	rs118204096
Varsome	rs118204096
LitVar	rs118204096
Map	rs118204096
PheGenI	rs118204096
Biobank	rs118204096
1000 genomes	rs118204096
hgdp	rs118204096
ensembl	rs118204096
geneview	rs118204096
scholar	rs118204096
google	rs118204096
pharmgkb	rs118204096
gwascentral	rs118204096
openSNP	rs118204096
23andMe	rs118204096
SNPshot	rs118204096
SNPdbe	rs118204096
MSV3d	rs118204096
GWAS Ctlg	rs118204096

Max Magnitude

5

OMIM	609806
Desc
Variant	0006
Related	also

ClinVar
Risk	Rs118204096(A;A)
Alt	Rs118204096(A;A)
Reference	Rs118204096(G;G)
Significance	Pathogenic
Disease	Acute intermittent porphyria
Variation	info
Gene	HMBS
CLNDBN	Acute intermittent porphyria
Reversed	0
HGVS	NC_000011.9:g.118962142G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001512.2,