rs118204104

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

119088638

Gene

HMBS

is a	snp
is	mentioned by
dbSNP	rs118204104
dbSNP (classic)	rs118204104
ClinGen	rs118204104
ebi	rs118204104
HLI	rs118204104
Exac	rs118204104
Gnomad	rs118204104
Varsome	rs118204104
LitVar	rs118204104
Map	rs118204104
PheGenI	rs118204104
Biobank	rs118204104
1000 genomes	rs118204104
hgdp	rs118204104
ensembl	rs118204104
geneview	rs118204104
scholar	rs118204104
google	rs118204104
pharmgkb	rs118204104
gwascentral	rs118204104
openSNP	rs118204104
23andMe	rs118204104
SNPshot	rs118204104
SNPdbe	rs118204104
MSV3d	rs118204104
GWAS Ctlg	rs118204104

Max Magnitude

5

OMIM	609806
Desc
Variant	0016
Related	also

ClinVar
Risk	Rs118204104(A;A)
Alt	Rs118204104(A;A)
Reference	Rs118204104(G;G)
Significance	Pathogenic
Disease	Acute intermittent porphyria
Variation	info
Gene	HMBS
CLNDBN	Acute intermittent porphyria
Reversed	0
HGVS	NC_000011.9:g.118959348G>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001519.3,