Have questions? Visit https://www.reddit.com/r/SNPedia

rs1057516565

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057516565(A;A)
Make rs1057516565(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position177442248
GeneAGA, LOC285500
is asnp
is mentioned by
dbSNPrs1057516565
dbSNP (old)rs1057516565
ClinGenrs1057516565
ebirs1057516565
HLIrs1057516565
Exacrs1057516565
Gnomadrs1057516565
Varsomers1057516565
Maprs1057516565
PheGenIrs1057516565
Biobankrs1057516565
1000 genomesrs1057516565
hgdprs1057516565
ensemblrs1057516565
gopubmedrs1057516565
geneviewrs1057516565
scholarrs1057516565
googlers1057516565
pharmgkbrs1057516565
gwascentralrs1057516565
openSNPrs1057516565
23andMers1057516565
23andMe allrs1057516565
SNPshotrs1057516565
SNPdbers1057516565
MSV3drs1057516565
GWAS Ctlgrs1057516565
Max Magnitude0
ClinVar
Risk rs1057516565(A;A)
Alt rs1057516565(A;A)
Reference Rs1057516565(G;G)
Significance Probable-Pathogenic
Disease Aspartylglycosaminuria
Variation info
Gene AGA
CLNDBN Aspartylglycosaminuria
Reversed 1
HGVS NC_000004.11:g.178363402C>T
CLNSRC
CLNACC RCV000409941.1,