rs118204097

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

119090230

Gene

HMBS

is a	snp
is	mentioned by
dbSNP	rs118204097
dbSNP (classic)	rs118204097
ClinGen	rs118204097
ebi	rs118204097
HLI	rs118204097
Exac	rs118204097
Gnomad	rs118204097
Varsome	rs118204097
LitVar	rs118204097
Map	rs118204097
PheGenI	rs118204097
Biobank	rs118204097
1000 genomes	rs118204097
hgdp	rs118204097
ensembl	rs118204097
geneview	rs118204097
scholar	rs118204097
google	rs118204097
pharmgkb	rs118204097
gwascentral	rs118204097
openSNP	rs118204097
23andMe	rs118204097
SNPshot	rs118204097
SNPdbe	rs118204097
MSV3d	rs118204097
GWAS Ctlg	rs118204097

Max Magnitude

5

OMIM	609806
Desc
Variant	0007
Related	also

ClinVar
Risk	Rs118204097(T;T)
Alt	Rs118204097(T;T)
Reference	Rs118204097(C;C)
Significance	Pathogenic
Disease	Acute intermittent porphyria
Variation	info
Gene	HMBS
CLNDBN	Acute intermittent porphyria
Reversed	0
HGVS	NC_000011.9:g.118960940C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001513.2,