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rs1057519444

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CC;CC) 0 common in clinvar
Make rs1057519444(CC;TT)
Make rs1057519444(TT;TT)
ReferenceGRCh38.p7 38.3/150
Chromosome22
Position32518208
GeneSYN3
is asnp
is mentioned by
dbSNPrs1057519444
dbSNP (old)rs1057519444
ClinGenrs1057519444
ebirs1057519444
HLIrs1057519444
Exacrs1057519444
Gnomadrs1057519444
Varsomers1057519444
Maprs1057519444
PheGenIrs1057519444
Biobankrs1057519444
1000 genomesrs1057519444
hgdprs1057519444
ensemblrs1057519444
gopubmedrs1057519444
geneviewrs1057519444
scholarrs1057519444
googlers1057519444
pharmgkbrs1057519444
gwascentralrs1057519444
openSNPrs1057519444
23andMers1057519444
23andMe allrs1057519444
SNPshotrs1057519444
SNPdbers1057519444
MSV3drs1057519444
GWAS Ctlgrs1057519444
Max Magnitude0
ClinVar
Risk rs1057519444(TT;TT)
Alt rs1057519444(TT;TT)
Reference Rs1057519444(CC;CC)
Significance Pathogenic
Disease Cerebellar vermis atrophy Generalized hypotonia Global developmental delay Seizures Visual impairment
Variation info
Gene SYN3
CLNDBN Cerebellar vermis atrophy Generalized hypotonia Global developmental delay Seizures Visual impairment
Reversed 1
HGVS NC_000022.10:g.32914195_32914196delGGinsAA
CLNSRC
CLNACC RCV000416436.1,