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rs1064797101

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(AACTT;AACTT) 0 common in clinvar
Chromosome8
Position91078419
GeneOTUD6B
is asnp
is mentioned by
dbSNPrs1064797101
dbSNP (old)rs1064797101
ClinGenrs1064797101
ebirs1064797101
HLIrs1064797101
Exacrs1064797101
Gnomadrs1064797101
Varsomers1064797101
Maprs1064797101
PheGenIrs1064797101
Biobankrs1064797101
1000 genomesrs1064797101
hgdprs1064797101
ensemblrs1064797101
gopubmedrs1064797101
geneviewrs1064797101
scholarrs1064797101
googlers1064797101
pharmgkbrs1064797101
gwascentralrs1064797101
openSNPrs1064797101
23andMers1064797101
23andMe allrs1064797101
SNPshotrs1064797101
SNPdbers1064797101
MSV3drs1064797101
GWAS Ctlgrs1064797101
Max Magnitude0
ClinVar
Risk rs1064797101(-;-)
Alt rs1064797101(-;-)
Reference Rs1064797101(AACTT;AACTT)
Significance Pathogenic
Disease Intellectual developmental disorder with dysmorphic facies Dysmorphic features Intellectual disability Seizure Disorders
Variation info
Gene OTUD6B
CLNDBN Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies Dysmorphic features Intellectual disability Seizure Disorders
Reversed 0
HGVS NC_000008.10:g.92090647_92090651delTTAAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000487729.1, RCV000491466.1,