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rs1057518805

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(TATGAC;TATGAC) 0 common in clinvar
Make rs1057518805(-;-)
Make rs1057518805(-;TATGAC)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position202596928
GeneLOC105371686, SYT2
is asnp
is mentioned by
dbSNPrs1057518805
dbSNP (old)rs1057518805
ClinGenrs1057518805
ebirs1057518805
HLIrs1057518805
Exacrs1057518805
Gnomadrs1057518805
Varsomers1057518805
Maprs1057518805
PheGenIrs1057518805
Biobankrs1057518805
1000 genomesrs1057518805
hgdprs1057518805
ensemblrs1057518805
gopubmedrs1057518805
geneviewrs1057518805
scholarrs1057518805
googlers1057518805
pharmgkbrs1057518805
gwascentralrs1057518805
openSNPrs1057518805
23andMers1057518805
23andMe allrs1057518805
SNPshotrs1057518805
SNPdbers1057518805
MSV3drs1057518805
GWAS Ctlgrs1057518805
Max Magnitude0
ClinVar
Risk rs1057518805(-;-)
Alt rs1057518805(-;-)
Reference Rs1057518805(TATGAC;TATGAC)
Significance Probable-Pathogenic
Disease Muscle weakness Respiratory distress
Variation info
Gene SYT2
CLNDBN Muscle weakness Respiratory distress
Reversed 1
HGVS NC_000001.10:g.202566056_202566061delGTCATA
CLNSRC
CLNACC RCV000415021.1,