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rs1057519081

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057519081(C;C)
Make rs1057519081(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position74531106
GeneAUP1, HTRA2
is asnp
is mentioned by
dbSNPrs1057519081
dbSNP (old)rs1057519081
ClinGenrs1057519081
ebirs1057519081
HLIrs1057519081
Exacrs1057519081
Gnomadrs1057519081
Varsomers1057519081
Maprs1057519081
PheGenIrs1057519081
Biobankrs1057519081
1000 genomesrs1057519081
hgdprs1057519081
ensemblrs1057519081
gopubmedrs1057519081
geneviewrs1057519081
scholarrs1057519081
googlers1057519081
pharmgkbrs1057519081
gwascentralrs1057519081
openSNPrs1057519081
23andMers1057519081
23andMe allrs1057519081
SNPshotrs1057519081
SNPdbers1057519081
MSV3drs1057519081
GWAS Ctlgrs1057519081
Max Magnitude0
ClinVar
Risk rs1057519081(C;C)
Alt rs1057519081(C;C)
Reference Rs1057519081(G;G)
Significance Pathogenic
Disease 3-methylglutaconic aciduria
Variation info
Gene HTRA2 AUP1
CLNDBN 3-methylglutaconic aciduria, type VIII
Reversed 0
HGVS NC_000002.11:g.74758233G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000412614.1,