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rs1060499777

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs1060499777(G;G)
Make rs1060499777(G;T)
ReferenceGRCh38.p7 38.3/150
Chromosome3
Position25764244
GeneNGLY1
is asnp
is mentioned by
dbSNPrs1060499777
dbSNP (classic)rs1060499777
ClinGenrs1060499777
ebirs1060499777
HLIrs1060499777
Exacrs1060499777
Gnomadrs1060499777
Varsomers1060499777
LitVarrs1060499777
Maprs1060499777
PheGenIrs1060499777
Biobankrs1060499777
1000 genomesrs1060499777
hgdprs1060499777
ensemblrs1060499777
geneviewrs1060499777
scholarrs1060499777
googlers1060499777
pharmgkbrs1060499777
gwascentralrs1060499777
openSNPrs1060499777
23andMers1060499777
23andMe allrs1060499777
SNPshotrs1060499777
SNPdbers1060499777
MSV3drs1060499777
GWAS Ctlgrs1060499777
Max Magnitude0
ClinVar
Risk rs1060499777(G;G)
Alt rs1060499777(G;G)
Reference Rs1060499777(T;T)
Significance Probable-Pathogenic
Disease Abnormality of brain morphology
Variation info
Gene NGLY1
CLNDBN Abnormality of brain morphology
Reversed 1
HGVS NC_000003.11:g.25805735A>C
CLNSRC
CLNACC RCV000454236.1,