rs118204107

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

119089747

Gene

HMBS

is a	snp
is	mentioned by
dbSNP	rs118204107
dbSNP (classic)	rs118204107
ClinGen	rs118204107
ebi	rs118204107
HLI	rs118204107
Exac	rs118204107
Gnomad	rs118204107
Varsome	rs118204107
LitVar	rs118204107
Map	rs118204107
PheGenI	rs118204107
Biobank	rs118204107
1000 genomes	rs118204107
hgdp	rs118204107
ensembl	rs118204107
geneview	rs118204107
scholar	rs118204107
google	rs118204107
pharmgkb	rs118204107
gwascentral	rs118204107
openSNP	rs118204107
23andMe	rs118204107
SNPshot	rs118204107
SNPdbe	rs118204107
MSV3d	rs118204107
GWAS Ctlg	rs118204107

Max Magnitude

5

OMIM	609806
Desc
Variant	0023
Related	also

ClinVar
Risk	Rs118204107(A;A)
Alt	Rs118204107(A;A)
Reference	Rs118204107(G;G)
Significance	Pathogenic
Disease	Acute intermittent porphyria
Variation	info
Gene	HMBS
CLNDBN	Acute intermittent porphyria
Reversed	0
HGVS	NC_000011.9:g.118960457G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001529.3,