rs118204117

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

11

Position

119092958

Gene

HMBS

is a	snp
is	mentioned by
dbSNP	rs118204117
dbSNP (classic)	rs118204117
ClinGen	rs118204117
ebi	rs118204117
HLI	rs118204117
Exac	rs118204117
Gnomad	rs118204117
Varsome	rs118204117
LitVar	rs118204117
Map	rs118204117
PheGenI	rs118204117
Biobank	rs118204117
1000 genomes	rs118204117
hgdp	rs118204117
ensembl	rs118204117
geneview	rs118204117
scholar	rs118204117
google	rs118204117
pharmgkb	rs118204117
gwascentral	rs118204117
openSNP	rs118204117
23andMe	rs118204117
SNPshot	rs118204117
SNPdbe	rs118204117
MSV3d	rs118204117
GWAS Ctlg	rs118204117

Max Magnitude

5

OMIM	609806
Desc
Variant	0043
Related	also

ClinVar
Risk	Rs118204117(A;A)
Alt	Rs118204117(A;A)
Reference	Rs118204117(G;G)
Significance	Pathogenic
Disease	Acute intermittent porphyria not provided
Variation	info
Gene	HMBS
CLNDBN	Acute intermittent porphyria not provided
Reversed	0
HGVS	NC_000011.9:g.118963668G>A
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001548.2, RCV000418446.1,