rs118204112

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

119092500

Gene

HMBS

is a	snp
is	mentioned by
dbSNP	rs118204112
dbSNP (classic)	rs118204112
ClinGen	rs118204112
ebi	rs118204112
HLI	rs118204112
Exac	rs118204112
Gnomad	rs118204112
Varsome	rs118204112
LitVar	rs118204112
Map	rs118204112
PheGenI	rs118204112
Biobank	rs118204112
1000 genomes	rs118204112
hgdp	rs118204112
ensembl	rs118204112
geneview	rs118204112
scholar	rs118204112
google	rs118204112
pharmgkb	rs118204112
gwascentral	rs118204112
openSNP	rs118204112
23andMe	rs118204112
SNPshot	rs118204112
SNPdbe	rs118204112
MSV3d	rs118204112
GWAS Ctlg	rs118204112

Max Magnitude

5

OMIM	609806
Desc
Variant	0031
Related	also

ClinVar
Risk	Rs118204112(A;A)
Alt	Rs118204112(A;A)
Reference	Rs118204112(G;G)
Significance	Pathogenic
Disease	Acute intermittent porphyria
Variation	info
Gene	HMBS
CLNDBN	Acute intermittent porphyria
Reversed	0
HGVS	NC_000011.9:g.118963210G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001536.3,