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rs1057518674

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057518674(C;T)
Make rs1057518674(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome1
Position153818075
GeneGATAD2B
is asnp
is mentioned by
dbSNPrs1057518674
dbSNP (old)rs1057518674
ClinGenrs1057518674
ebirs1057518674
HLIrs1057518674
Exacrs1057518674
Gnomadrs1057518674
Varsomers1057518674
Maprs1057518674
PheGenIrs1057518674
Biobankrs1057518674
1000 genomesrs1057518674
hgdprs1057518674
ensemblrs1057518674
gopubmedrs1057518674
geneviewrs1057518674
scholarrs1057518674
googlers1057518674
pharmgkbrs1057518674
gwascentralrs1057518674
openSNPrs1057518674
23andMers1057518674
23andMe allrs1057518674
SNPshotrs1057518674
SNPdbers1057518674
MSV3drs1057518674
GWAS Ctlgrs1057518674
Max Magnitude0
ClinVar
Risk rs1057518674(T;T)
Alt rs1057518674(T;T)
Reference Rs1057518674(C;C)
Significance Pathogenic
Disease Mental retardation
Variation info
Gene GATAD2B
CLNDBN Mental retardation, autosomal dominant 18
Reversed 1
HGVS NC_000001.10:g.153790551G>A
CLNSRC
CLNACC RCV000415285.1,