rs118204100

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

119091507

Gene

HMBS

is a	snp
is	mentioned by
dbSNP	rs118204100
dbSNP (classic)	rs118204100
ClinGen	rs118204100
ebi	rs118204100
HLI	rs118204100
Exac	rs118204100
Gnomad	rs118204100
Varsome	rs118204100
LitVar	rs118204100
Map	rs118204100
PheGenI	rs118204100
Biobank	rs118204100
1000 genomes	rs118204100
hgdp	rs118204100
ensembl	rs118204100
geneview	rs118204100
scholar	rs118204100
google	rs118204100
pharmgkb	rs118204100
gwascentral	rs118204100
openSNP	rs118204100
23andMe	rs118204100
SNPshot	rs118204100
SNPdbe	rs118204100
MSV3d	rs118204100
GWAS Ctlg	rs118204100

Max Magnitude

5

OMIM	609806
Desc
Variant	0012
Related	also

ClinVar
Risk	Rs118204100(A;A)
Alt	Rs118204100(A;A)
Reference	Rs118204100(G;G)
Significance	Pathogenic
Disease	Acute intermittent porphyria
Variation	info
Gene	HMBS
CLNDBN	Acute intermittent porphyria
Reversed	0
HGVS	NC_000011.9:g.118962217G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001518.2,