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rs1057519318

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057519318(-;-)
Make rs1057519318(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome18
Position45899548
GeneEPG5
is asnp
is mentioned by
dbSNPrs1057519318
dbSNP (old)rs1057519318
ClinGenrs1057519318
ebirs1057519318
HLIrs1057519318
Exacrs1057519318
Gnomadrs1057519318
Varsomers1057519318
LitVarrs1057519318
Maprs1057519318
PheGenIrs1057519318
Biobankrs1057519318
1000 genomesrs1057519318
hgdprs1057519318
ensemblrs1057519318
gopubmedrs1057519318
geneviewrs1057519318
scholarrs1057519318
googlers1057519318
pharmgkbrs1057519318
gwascentralrs1057519318
openSNPrs1057519318
23andMers1057519318
23andMe allrs1057519318
SNPshotrs1057519318
SNPdbers1057519318
MSV3drs1057519318
GWAS Ctlgrs1057519318
Max Magnitude0
ClinVar
Risk rs1057519318(-;-)
Alt rs1057519318(-;-)
Reference Rs1057519318(A;A)
Significance Probable-Pathogenic
Disease Absent corpus callosum cataract immunodeficiency
Variation info
Gene EPG5
CLNDBN Absent corpus callosum cataract immunodeficiency
Reversed 1
HGVS NC_000018.9:g.43479513delT
CLNSRC
CLNACC RCV000416351.1,