rs118204115

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/141

Chromosome

11

Position

119092518

Gene

HMBS

is a	snp
is	mentioned by
dbSNP	rs118204115
dbSNP (classic)	rs118204115
ClinGen	rs118204115
ebi	rs118204115
HLI	rs118204115
Exac	rs118204115
Gnomad	rs118204115
Varsome	rs118204115
LitVar	rs118204115
Map	rs118204115
PheGenI	rs118204115
Biobank	rs118204115
1000 genomes	rs118204115
hgdp	rs118204115
ensembl	rs118204115
geneview	rs118204115
scholar	rs118204115
google	rs118204115
pharmgkb	rs118204115
gwascentral	rs118204115
openSNP	rs118204115
23andMe	rs118204115
SNPshot	rs118204115
SNPdbe	rs118204115
MSV3d	rs118204115
GWAS Ctlg	rs118204115

Max Magnitude

5

OMIM	609806
Desc
Variant	0034
Related	also

ClinVar
Risk	Rs118204115(A;A)
Alt	Rs118204115(A;A)
Reference	Rs118204115(C;C)
Significance	Pathogenic
Disease	Acute intermittent porphyria
Variation	info
Gene	HMBS
CLNDBN	Acute intermittent porphyria
Reversed	0
HGVS	NC_000011.9:g.118963228C>A
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001539.2,