rs118204110

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

11

Position

119092419

Gene

HMBS

is a	snp
is	mentioned by
dbSNP	rs118204110
dbSNP (classic)	rs118204110
ClinGen	rs118204110
ebi	rs118204110
HLI	rs118204110
Exac	rs118204110
Gnomad	rs118204110
Varsome	rs118204110
LitVar	rs118204110
Map	rs118204110
PheGenI	rs118204110
Biobank	rs118204110
1000 genomes	rs118204110
hgdp	rs118204110
ensembl	rs118204110
geneview	rs118204110
scholar	rs118204110
google	rs118204110
pharmgkb	rs118204110
gwascentral	rs118204110
openSNP	rs118204110
23andMe	rs118204110
SNPshot	rs118204110
SNPdbe	rs118204110
MSV3d	rs118204110
GWAS Ctlg	rs118204110

Max Magnitude

5

OMIM	609806
Desc
Variant	0027
Related	also

ClinVar
Risk	Rs118204110(A;A)
Alt	Rs118204110(A;A)
Reference	Rs118204110(G;G)
Significance	Pathogenic
Disease	Acute intermittent porphyria
Variation	info
Gene	HMBS
CLNDBN	Acute intermittent porphyria
Reversed	0
HGVS	NC_000011.9:g.118963129G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001532.3,