rs118204094

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

11

Position

119089991

Gene

HMBS

is a	snp
is	mentioned by
dbSNP	rs118204094
dbSNP (classic)	rs118204094
ClinGen	rs118204094
ebi	rs118204094
HLI	rs118204094
Exac	rs118204094
Gnomad	rs118204094
Varsome	rs118204094
LitVar	rs118204094
Map	rs118204094
PheGenI	rs118204094
Biobank	rs118204094
1000 genomes	rs118204094
hgdp	rs118204094
ensembl	rs118204094
geneview	rs118204094
scholar	rs118204094
google	rs118204094
pharmgkb	rs118204094
gwascentral	rs118204094
openSNP	rs118204094
23andMe	rs118204094
SNPshot	rs118204094
SNPdbe	rs118204094
MSV3d	rs118204094
GWAS Ctlg	rs118204094

Max Magnitude

5

OMIM	609806
Desc
Variant	0004
Related	also

ClinVar
Risk	Rs118204094(T;T)
Alt	Rs118204094(T;T)
Reference	Rs118204094(C;C)
Significance	Pathogenic
Disease	Acute intermittent porphyria
Variation	info
Gene	HMBS
CLNDBN	Acute intermittent porphyria
Reversed	0
HGVS	NC_000011.9:g.118960701C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001510.2,