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rs1057519395

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(GT;GT) 0 common in clinvar
Make rs1057519395(-;-)
Make rs1057519395(-;TG)
Make rs1057519395(TG;TG)
ReferenceGRCh38.p7 38.3/150
Chromosome22
Position50721862
GeneSHANK3
is asnp
is mentioned by
dbSNPrs1057519395
dbSNP (old)rs1057519395
ClinGenrs1057519395
ebirs1057519395
HLIrs1057519395
Exacrs1057519395
Gnomadrs1057519395
Varsomers1057519395
Maprs1057519395
PheGenIrs1057519395
Biobankrs1057519395
1000 genomesrs1057519395
hgdprs1057519395
ensemblrs1057519395
gopubmedrs1057519395
geneviewrs1057519395
scholarrs1057519395
googlers1057519395
pharmgkbrs1057519395
gwascentralrs1057519395
openSNPrs1057519395
23andMers1057519395
23andMe allrs1057519395
SNPshotrs1057519395
SNPdbers1057519395
MSV3drs1057519395
GWAS Ctlgrs1057519395
Max Magnitude0
ClinVar
Risk rs1057519395(-;-)
Alt rs1057519395(-;-)
Reference Rs1057519395(GT;GT)
Significance Pathogenic
Disease 22q13.3 deletion syndrome
Variation info
Gene SHANK3
CLNDBN 22q13.3 deletion syndrome
Reversed 0
HGVS NC_000022.10:g.51160290_51160291delTG
CLNSRC
CLNACC RCV000417048.1,