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rs1057518806

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common/normal
Make rs1057518806(-;-)
Make rs1057518806(-;G)
Chromosome11
Position119093155
GeneHMBS
is asnp
is mentioned by
dbSNPrs1057518806
dbSNP (classic)rs1057518806
ClinGenrs1057518806
ebirs1057518806
HLIrs1057518806
Exacrs1057518806
Gnomadrs1057518806
Varsomers1057518806
LitVarrs1057518806
Maprs1057518806
PheGenIrs1057518806
Biobankrs1057518806
1000 genomesrs1057518806
hgdprs1057518806
ensemblrs1057518806
geneviewrs1057518806
scholarrs1057518806
googlers1057518806
pharmgkbrs1057518806
gwascentralrs1057518806
openSNPrs1057518806
23andMers1057518806
23andMe allrs1057518806
SNPshotrs1057518806
SNPdbers1057518806
MSV3drs1057518806
GWAS Ctlgrs1057518806
Max Magnitude0

c.958delG (p.Ala320Leufs)

reported as likely pathogenic in ClinVar, in gene associated with acute intermittent porphyria

ClinVar
Risk rs1057518806(-;-)
Alt rs1057518806(-;-)
Reference Rs1057518806(G;G)
Significance Probable-Pathogenic
Disease Abdominal pain Acute episodes of neuropathic symptoms Anxiety Elevated urinary delta-aminolevulinic acid
Variation info
Gene HMBS
CLNDBN Abdominal pain Acute episodes of neuropathic symptoms Anxiety Elevated urinary delta-aminolevulinic acid
Reversed 0
HGVS NC_000011.9:g.118963865delG
CLNSRC
CLNACC RCV000415138.1,