rs118204106

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

11

Position

119089084

Gene

HMBS

is a	snp
is	mentioned by
dbSNP	rs118204106
dbSNP (classic)	rs118204106
ClinGen	rs118204106
ebi	rs118204106
HLI	rs118204106
Exac	rs118204106
Gnomad	rs118204106
Varsome	rs118204106
LitVar	rs118204106
Map	rs118204106
PheGenI	rs118204106
Biobank	rs118204106
1000 genomes	rs118204106
hgdp	rs118204106
ensembl	rs118204106
geneview	rs118204106
scholar	rs118204106
google	rs118204106
pharmgkb	rs118204106
gwascentral	rs118204106
openSNP	rs118204106
23andMe	rs118204106
SNPshot	rs118204106
SNPdbe	rs118204106
MSV3d	rs118204106
GWAS Ctlg	rs118204106

Max Magnitude

5

OMIM	609806
Desc
Variant	0018
Related	also

ClinVar
Risk	Rs118204106(T;T)
Alt	Rs118204106(T;T)
Reference	Rs118204106(G;G)
Significance	Pathogenic
Disease	Acute intermittent porphyria
Variation	info
Gene	HMBS
CLNDBN	Acute intermittent porphyria
Reversed	0
HGVS	NC_000011.9:g.118959794G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001523.2,