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rs1057518886

From SNPedia

Orientationplus
Stabilizedplus
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
Chromosome11
Position119090045
GeneHMBS
is asnp
is mentioned by
dbSNPrs1057518886
dbSNP (old)rs1057518886
ClinGenrs1057518886
ebirs1057518886
HLIrs1057518886
Exacrs1057518886
Gnomadrs1057518886
Varsomers1057518886
Maprs1057518886
PheGenIrs1057518886
Biobankrs1057518886
1000 genomesrs1057518886
hgdprs1057518886
ensemblrs1057518886
gopubmedrs1057518886
geneviewrs1057518886
scholarrs1057518886
googlers1057518886
pharmgkbrs1057518886
gwascentralrs1057518886
openSNPrs1057518886
23andMers1057518886
23andMe allrs1057518886
SNPshotrs1057518886
SNPdbers1057518886
MSV3drs1057518886
GWAS Ctlgrs1057518886
Max Magnitude5

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,