rs118204095

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(A;A)	5	Porphyria, acute intermittent
(A;G)	4	Porphyria, acute intermittent
(G;G)	0	common in clinvar
(G;T)	4	Acute intermittent porphyria
(T;T)	5	Porphyria, acute intermittent

Reference

GRCh38 38.1/141

Chromosome

11

Position

119091414

Gene

HMBS

is a	snp
is	mentioned by
dbSNP	rs118204095
dbSNP (classic)	rs118204095
ClinGen	rs118204095
ebi	rs118204095
HLI	rs118204095
Exac	rs118204095
Gnomad	rs118204095
Varsome	rs118204095
LitVar	rs118204095
Map	rs118204095
PheGenI	rs118204095
Biobank	rs118204095
1000 genomes	rs118204095
hgdp	rs118204095
ensembl	rs118204095
geneview	rs118204095
scholar	rs118204095
google	rs118204095
pharmgkb	rs118204095
gwascentral	rs118204095
openSNP	rs118204095
23andMe	rs118204095
SNPshot	rs118204095
SNPdbe	rs118204095
MSV3d	rs118204095
GWAS Ctlg	rs118204095

Max Magnitude

5

OMIM	609806
Desc
Variant	0005
Related	also

OMIM	609806
Desc
Variant	0014
Related	also

ClinVar
Risk	Rs118204095(A;A) Rs118204095(T;T)
Alt	Rs118204095(A;A) Rs118204095(T;T)
Reference	Rs118204095(G;G)
Significance	Other
Disease	Acute intermittent porphyria
Variation	info
Gene	HMBS
CLNDBN	Acute intermittent porphyria
Reversed	0
HGVS	NC_000011.9:g.118962124G>A; NC_000011.9:g.118962124G>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001511.3, RCV000001522.2,