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rs1057519312

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519312(C;T)
Make rs1057519312(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position27136371
GeneYME1L1
is asnp
is mentioned by
dbSNPrs1057519312
dbSNP (classic)rs1057519312
ClinGenrs1057519312
ebirs1057519312
HLIrs1057519312
Exacrs1057519312
Gnomadrs1057519312
Varsomers1057519312
LitVarrs1057519312
Maprs1057519312
PheGenIrs1057519312
Biobankrs1057519312
1000 genomesrs1057519312
hgdprs1057519312
ensemblrs1057519312
geneviewrs1057519312
scholarrs1057519312
googlers1057519312
pharmgkbrs1057519312
gwascentralrs1057519312
openSNPrs1057519312
23andMers1057519312
SNPshotrs1057519312
SNPdbers1057519312
MSV3drs1057519312
GWAS Ctlgrs1057519312
Max Magnitude0
ClinVar
Risk rs1057519312(T;T)
Alt rs1057519312(T;T)
Reference Rs1057519312(C;C)
Significance Pathogenic
Disease Optic atrophy 11
Variation info
Gene YME1L1
CLNDBN Optic atrophy 11
Reversed 1
HGVS NC_000010.10:g.27425300G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000415698.2,