rs118204120

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

119090212

Gene

HMBS

is a	snp
is	mentioned by
dbSNP	rs118204120
dbSNP (classic)	rs118204120
ClinGen	rs118204120
ebi	rs118204120
HLI	rs118204120
Exac	rs118204120
Gnomad	rs118204120
Varsome	rs118204120
LitVar	rs118204120
Map	rs118204120
PheGenI	rs118204120
Biobank	rs118204120
1000 genomes	rs118204120
hgdp	rs118204120
ensembl	rs118204120
geneview	rs118204120
scholar	rs118204120
google	rs118204120
pharmgkb	rs118204120
gwascentral	rs118204120
openSNP	rs118204120
23andMe	rs118204120
SNPshot	rs118204120
SNPdbe	rs118204120
MSV3d	rs118204120
GWAS Ctlg	rs118204120

Max Magnitude

5

OMIM	609806
Desc
Variant	0046
Related	also

ClinVar
Risk	Rs118204120(T;T)
Alt	Rs118204120(T;T)
Reference	Rs118204120(C;C)
Significance	Pathogenic
Disease	Acute intermittent porphyria
Variation	info
Gene	HMBS
CLNDBN	Acute intermittent porphyria
Reversed	0
HGVS	NC_000011.9:g.118960922C>T
CLNSRC	OMIM Allelic Variant
CLNACC	RCV000001551.2,