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rs1085307143

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(GT;GT) 0 common in clinvar
Chromosome16
Position51141113
GeneSALL1
is asnp
is mentioned by
dbSNPrs1085307143
dbSNP (old)rs1085307143
ClinGenrs1085307143
ebirs1085307143
HLIrs1085307143
Exacrs1085307143
Gnomadrs1085307143
Varsomers1085307143
Maprs1085307143
PheGenIrs1085307143
Biobankrs1085307143
1000 genomesrs1085307143
hgdprs1085307143
ensemblrs1085307143
gopubmedrs1085307143
geneviewrs1085307143
scholarrs1085307143
googlers1085307143
pharmgkbrs1085307143
gwascentralrs1085307143
openSNPrs1085307143
23andMers1085307143
23andMe allrs1085307143
SNPshotrs1085307143
SNPdbers1085307143
MSV3drs1085307143
GWAS Ctlgrs1085307143
Max Magnitude0
ClinVar
Risk rs1085307143(-;-)
Alt rs1085307143(-;-)
Reference Rs1085307143(GT;GT)
Significance Pathogenic
Disease Townes syndrome
Variation info
Gene SALL1
CLNDBN Townes syndrome
Reversed 1
HGVS NC_000016.9:g.51175024_51175025delAC
CLNSRC
CLNACC RCV000489064.1,