rs118204109

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

11

Position

119091515

Gene

HMBS

is a	snp
is	mentioned by
dbSNP	rs118204109
dbSNP (classic)	rs118204109
ClinGen	rs118204109
ebi	rs118204109
HLI	rs118204109
Exac	rs118204109
Gnomad	rs118204109
Varsome	rs118204109
LitVar	rs118204109
Map	rs118204109
PheGenI	rs118204109
Biobank	rs118204109
1000 genomes	rs118204109
hgdp	rs118204109
ensembl	rs118204109
geneview	rs118204109
scholar	rs118204109
google	rs118204109
pharmgkb	rs118204109
gwascentral	rs118204109
openSNP	rs118204109
23andMe	rs118204109
SNPshot	rs118204109
SNPdbe	rs118204109
MSV3d	rs118204109
GWAS Ctlg	rs118204109

Max Magnitude

5

OMIM	609806
Desc
Variant	0026
Related	also

ClinVar
Risk	Rs118204109(T;T)
Alt	Rs118204109(T;T)
Reference	Rs118204109(C;C)
Significance	Pathogenic
Disease	Acute intermittent porphyria not provided
Variation	info
Gene	HMBS
CLNDBN	Acute intermittent porphyria not provided
Reversed	0
HGVS	NC_000011.9:g.118962225C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001527.2, RCV000432186.1,