rs118204111

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

11

Position

119092491

Gene

HMBS

is a	snp
is	mentioned by
dbSNP	rs118204111
dbSNP (classic)	rs118204111
ClinGen	rs118204111
ebi	rs118204111
HLI	rs118204111
Exac	rs118204111
Gnomad	rs118204111
Varsome	rs118204111
LitVar	rs118204111
Map	rs118204111
PheGenI	rs118204111
Biobank	rs118204111
1000 genomes	rs118204111
hgdp	rs118204111
ensembl	rs118204111
geneview	rs118204111
scholar	rs118204111
google	rs118204111
pharmgkb	rs118204111
gwascentral	rs118204111
openSNP	rs118204111
23andMe	rs118204111
SNPshot	rs118204111
SNPdbe	rs118204111
MSV3d	rs118204111
GWAS Ctlg	rs118204111

Max Magnitude

5

OMIM	609806
Desc
Variant	0029
Related	also

ClinVar
Risk	Rs118204111(C;C)
Alt	Rs118204111(C;C)
Reference	Rs118204111(T;T)
Significance	Pathogenic
Disease	Acute intermittent porphyria
Variation	info
Gene	HMBS
CLNDBN	Acute intermittent porphyria
Reversed	0
HGVS	NC_000011.9:g.118963201T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001534.3,