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rs1057519082

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TGC;TGC) 0 common in clinvar
Make rs1057519082(CAT;CAT)
Make rs1057519082(CAT;TGC)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position74530927
GeneAUP1, HTRA2
is asnp
is mentioned by
dbSNPrs1057519082
dbSNP (classic)rs1057519082
ClinGenrs1057519082
ebirs1057519082
HLIrs1057519082
Exacrs1057519082
Gnomadrs1057519082
Varsomers1057519082
LitVarrs1057519082
Maprs1057519082
PheGenIrs1057519082
Biobankrs1057519082
1000 genomesrs1057519082
hgdprs1057519082
ensemblrs1057519082
geneviewrs1057519082
scholarrs1057519082
googlers1057519082
pharmgkbrs1057519082
gwascentralrs1057519082
openSNPrs1057519082
23andMers1057519082
23andMe allrs1057519082
SNPshotrs1057519082
SNPdbers1057519082
MSV3drs1057519082
GWAS Ctlgrs1057519082
Max Magnitude0
ClinVar
Risk rs1057519082(CAT;CAT)
Alt rs1057519082(CAT;CAT)
Reference Rs1057519082(TGC;TGC)
Significance Pathogenic
Disease 3-methylglutaconic aciduria
Variation info
Gene HTRA2 AUP1
CLNDBN 3-methylglutaconic aciduria, type VIII
Reversed 0
HGVS NC_000002.11:g.74758054_74758056delTGCinsCAT
CLNSRC OMIM Allelic Variant
CLNACC RCV000412483.1,