rs118204108

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

11

Position

119091444

Gene

HMBS

is a	snp
is	mentioned by
dbSNP	rs118204108
dbSNP (classic)	rs118204108
ClinGen	rs118204108
ebi	rs118204108
HLI	rs118204108
Exac	rs118204108
Gnomad	rs118204108
Varsome	rs118204108
LitVar	rs118204108
Map	rs118204108
PheGenI	rs118204108
Biobank	rs118204108
1000 genomes	rs118204108
hgdp	rs118204108
ensembl	rs118204108
geneview	rs118204108
scholar	rs118204108
google	rs118204108
pharmgkb	rs118204108
gwascentral	rs118204108
openSNP	rs118204108
23andMe	rs118204108
SNPshot	rs118204108
SNPdbe	rs118204108
MSV3d	rs118204108
GWAS Ctlg	rs118204108

Max Magnitude

5

OMIM	609806
Desc
Variant	0025
Related	also

ClinVar
Risk	Rs118204108(G;G)
Alt	Rs118204108(G;G)
Reference	Rs118204108(T;T)
Significance	Pathogenic
Disease	Acute intermittent porphyria
Variation	info
Gene	HMBS
CLNDBN	Acute intermittent porphyria
Reversed	0
HGVS	NC_000011.9:g.118962154T>G
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001531.2,