rs34413634

Orientation

plus

Stabilized

plus

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

Reference

GRCh38 38.1/142

Chromosome

11

Position

119091497

Gene

HMBS

is a	snp
is	mentioned by
dbSNP	rs34413634
dbSNP (classic)	rs34413634
ClinGen	rs34413634
ebi	rs34413634
HLI	rs34413634
Exac	rs34413634
Gnomad	rs34413634
Varsome	rs34413634
LitVar	rs34413634
Map	rs34413634
PheGenI	rs34413634
Biobank	rs34413634
1000 genomes	rs34413634
hgdp	rs34413634
ensembl	rs34413634
geneview	rs34413634
scholar	rs34413634
google	rs34413634
pharmgkb	rs34413634
gwascentral	rs34413634
openSNP	rs34413634
23andMe	rs34413634
SNPshot	rs34413634
SNPdbe	rs34413634
MSV3d	rs34413634
GWAS Ctlg	rs34413634

Max Magnitude

5

ClinVar
Risk	Rs34413634(T;T)
Alt	Rs34413634(T;T)
Reference	Rs34413634(C;C)
Significance	Probable-Pathogenic
Disease	Acute intermittent porphyria
Variation	info
Gene	HMBS
CLNDBN	Acute intermittent porphyria
Reversed	0
HGVS	NC_000011.9:g.118962207C>T
CLNSRC	UniProtKB (protein)
CLNACC	RCV000148509.1,