rs118204114

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

119092507

Gene

HMBS

is a	snp
is	mentioned by
dbSNP	rs118204114
dbSNP (classic)	rs118204114
ClinGen	rs118204114
ebi	rs118204114
HLI	rs118204114
Exac	rs118204114
Gnomad	rs118204114
Varsome	rs118204114
LitVar	rs118204114
Map	rs118204114
PheGenI	rs118204114
Biobank	rs118204114
1000 genomes	rs118204114
hgdp	rs118204114
ensembl	rs118204114
geneview	rs118204114
scholar	rs118204114
google	rs118204114
pharmgkb	rs118204114
gwascentral	rs118204114
openSNP	rs118204114
23andMe	rs118204114
SNPshot	rs118204114
SNPdbe	rs118204114
MSV3d	rs118204114
GWAS Ctlg	rs118204114

Max Magnitude

5

OMIM	609806
Desc
Variant	0033
Related	also

ClinVar
Risk	Rs118204114(T;T)
Alt	Rs118204114(T;T)
Reference	Rs118204114(C;C)
Significance	Pathogenic
Disease	Acute intermittent porphyria
Variation	info
Gene	HMBS
CLNDBN	Acute intermittent porphyria
Reversed	0
HGVS	NC_000011.9:g.118963217C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001538.2,