rs1057518886

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(-;-)	5	likely to be associated with acute intermittent porphyria
(-;C)	4	likely to be associated with acute intermittent porphyria
(C;C)	0	common/normal

Chromosome

11

Position

119090045

Gene

HMBS

is a	snp
is	mentioned by
dbSNP	rs1057518886
dbSNP (classic)	rs1057518886
ClinGen	rs1057518886
ebi	rs1057518886
HLI	rs1057518886
Exac	rs1057518886
Gnomad	rs1057518886
Varsome	rs1057518886
LitVar	rs1057518886
Map	rs1057518886
PheGenI	rs1057518886
Biobank	rs1057518886
1000 genomes	rs1057518886
hgdp	rs1057518886
ensembl	rs1057518886
geneview	rs1057518886
scholar	rs1057518886
google	rs1057518886
pharmgkb	rs1057518886
gwascentral	rs1057518886
openSNP	rs1057518886
23andMe	rs1057518886
SNPshot	rs1057518886
SNPdbe	rs1057518886
MSV3d	rs1057518886
GWAS Ctlg	rs1057518886

Max Magnitude

5

c.400delC (p.Leu134Terfs)

appears to be acute intermittent porphyria related but isn't tagged as such in ClinVar

ClinVar
Risk	Rs1057518886(-;-)
Alt	Rs1057518886(-;-)
Reference	Rs1057518886(C;C)
Significance	Pathogenic
Disease	Abdominal pain Fever Mood changes Visual loss Vomiting
Variation	info
Gene	HMBS
CLNDBN	Abdominal pain Fever Mood changes Visual loss Vomiting
Reversed	0
HGVS	NC_000011.9:g.118960755delC
CLNSRC
CLNACC	RCV000415135.1,