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rs1054938291

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
ReferenceGRCh38.p7 38.3/150
Chromosome4
Position177442375
GeneAGA, LOC285500
is asnp
is mentioned by
dbSNPrs1054938291
dbSNP (old)rs1054938291
ClinGenrs1054938291
ebirs1054938291
HLIrs1054938291
Exacrs1054938291
Gnomadrs1054938291
Varsomers1054938291
LitVarrs1054938291
Maprs1054938291
PheGenIrs1054938291
Biobankrs1054938291
1000 genomesrs1054938291
hgdprs1054938291
ensemblrs1054938291
gopubmedrs1054938291
geneviewrs1054938291
scholarrs1054938291
googlers1054938291
pharmgkbrs1054938291
gwascentralrs1054938291
openSNPrs1054938291
23andMers1054938291
23andMe allrs1054938291
SNPshotrs1054938291
SNPdbers1054938291
MSV3drs1054938291
GWAS Ctlgrs1054938291
Max Magnitude0
ClinVar
Risk rs1054938291(C;C)
Alt rs1054938291(C;C)
Reference Rs1054938291(T;T)
Significance Probable-Pathogenic
Disease Aspartylglycosaminuria
Variation info
Gene
CLNDBN Aspartylglycosaminuria
Reversed 0
HGVS NC_000004.11:g.178363529T>C
CLNSRC
CLNACC RCV000411846.1,