rs118204098

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

119090213

Gene

HMBS

is a	snp
is	mentioned by
dbSNP	rs118204098
dbSNP (classic)	rs118204098
ClinGen	rs118204098
ebi	rs118204098
HLI	rs118204098
Exac	rs118204098
Gnomad	rs118204098
Varsome	rs118204098
LitVar	rs118204098
Map	rs118204098
PheGenI	rs118204098
Biobank	rs118204098
1000 genomes	rs118204098
hgdp	rs118204098
ensembl	rs118204098
geneview	rs118204098
scholar	rs118204098
google	rs118204098
pharmgkb	rs118204098
gwascentral	rs118204098
openSNP	rs118204098
23andMe	rs118204098
SNPshot	rs118204098
SNPdbe	rs118204098
MSV3d	rs118204098
GWAS Ctlg	rs118204098

Max Magnitude

5

OMIM	609806
Desc
Variant	0008
Related	also

ClinVar
Risk	Rs118204098(A;A)
Alt	Rs118204098(A;A)
Reference	Rs118204098(G;G)
Significance	Pathogenic
Disease	Acute intermittent porphyria
Variation	info
Gene	HMBS
CLNDBN	Acute intermittent porphyria
Reversed	0
HGVS	NC_000011.9:g.118960923G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001514.2,