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rs797045688

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(CTGAAGGATGGGA;CTGAAGGATGGGA) 0 common in clinvar
Make rs797045688(-;-)
Make rs797045688(-;TGAAGGATGGGAC)
Make rs797045688(TGAAGGATGGGAC;TGAAGGATGGGAC)
ReferenceGRCh38.p2 38.2/146
Chromosome9
Position137096301
GeneMAN1B1
is asnp
is mentioned by
dbSNPrs797045688
dbSNP (old)rs797045688
ClinGenrs797045688
ebirs797045688
HLIrs797045688
Exacrs797045688
Gnomadrs797045688
Varsomers797045688
Maprs797045688
PheGenIrs797045688
Biobankrs797045688
1000 genomesrs797045688
hgdprs797045688
ensemblrs797045688
gopubmedrs797045688
geneviewrs797045688
scholarrs797045688
googlers797045688
pharmgkbrs797045688
gwascentralrs797045688
openSNPrs797045688
23andMers797045688
23andMe allrs797045688
SNP Nexus

SNPshotrs797045688
SNPdbers797045688
MSV3drs797045688
GWAS Ctlgrs797045688
Max Magnitude0
ClinVar
Risk rs797045688(-;-)
Alt rs797045688(-;-)
Reference Rs797045688(CTGAAGGATGGGA;CTGAAGGATGGGA)
Significance Probable-Pathogenic
Disease Mental retardation
Variation info
Gene MAN1B1
CLNDBN Mental retardation, autosomal recessive 15
Reversed 0
HGVS NC_000009.11:g.139990753_139990765delTGAAGGATGGGAC
CLNSRC
CLNACC RCV000194566.1,