rs118204119

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

11

Position

119089248

Gene

HMBS

is a	snp
is	mentioned by
dbSNP	rs118204119
dbSNP (classic)	rs118204119
ClinGen	rs118204119
ebi	rs118204119
HLI	rs118204119
Exac	rs118204119
Gnomad	rs118204119
Varsome	rs118204119
LitVar	rs118204119
Map	rs118204119
PheGenI	rs118204119
Biobank	rs118204119
1000 genomes	rs118204119
hgdp	rs118204119
ensembl	rs118204119
geneview	rs118204119
scholar	rs118204119
google	rs118204119
pharmgkb	rs118204119
gwascentral	rs118204119
openSNP	rs118204119
23andMe	rs118204119
SNPshot	rs118204119
SNPdbe	rs118204119
MSV3d	rs118204119
GWAS Ctlg	rs118204119

Max Magnitude

5

OMIM	609806
Desc
Variant	0045
Related	also

ClinVar
Risk	Rs118204119(C;C)
Alt	Rs118204119(C;C)
Reference	Rs118204119(T;T)
Significance	Pathogenic
Disease	Acute intermittent porphyria
Variation	info
Gene	HMBS
CLNDBN	Acute intermittent porphyria
Reversed	0
HGVS	NC_000011.9:g.118959958T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001550.2,