rs118204101

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

119091413

Gene

HMBS

is a	snp
is	mentioned by
dbSNP	rs118204101
dbSNP (classic)	rs118204101
ClinGen	rs118204101
ebi	rs118204101
HLI	rs118204101
Exac	rs118204101
Gnomad	rs118204101
Varsome	rs118204101
LitVar	rs118204101
Map	rs118204101
PheGenI	rs118204101
Biobank	rs118204101
1000 genomes	rs118204101
hgdp	rs118204101
ensembl	rs118204101
geneview	rs118204101
scholar	rs118204101
google	rs118204101
pharmgkb	rs118204101
gwascentral	rs118204101
openSNP	rs118204101
23andMe	rs118204101
SNPshot	rs118204101
SNPdbe	rs118204101
MSV3d	rs118204101
GWAS Ctlg	rs118204101

Max Magnitude

5

OMIM	609806
Desc
Variant	0013
Related	also

ClinVar
Risk	Rs118204101(T;T)
Alt	Rs118204101(T;T)
Reference	Rs118204101(C;C)
Significance	Pathogenic
Disease	Acute intermittent porphyria not provided
Variation	info
Gene	HMBS
CLNDBN	Acute intermittent porphyria not provided
Reversed	0
HGVS	NC_000011.9:g.118962123C>T
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000001521.2, RCV000489906.1,