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rs1057517108

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(TAGGGGG;TAGGGGG) 0 common in clinvar
Make rs1057517108(-;-)
Make rs1057517108(-;TAGGGGG)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position12663695
GeneMAN2B1
is asnp
is mentioned by
dbSNPrs1057517108
dbSNP (old)rs1057517108
ClinGenrs1057517108
ebirs1057517108
HLIrs1057517108
Exacrs1057517108
Gnomadrs1057517108
Varsomers1057517108
Maprs1057517108
PheGenIrs1057517108
Biobankrs1057517108
1000 genomesrs1057517108
hgdprs1057517108
ensemblrs1057517108
gopubmedrs1057517108
geneviewrs1057517108
scholarrs1057517108
googlers1057517108
pharmgkbrs1057517108
gwascentralrs1057517108
openSNPrs1057517108
23andMers1057517108
23andMe allrs1057517108
SNPshotrs1057517108
SNPdbers1057517108
MSV3drs1057517108
GWAS Ctlgrs1057517108
Max Magnitude0
ClinVar
Risk rs1057517108(-;-)
Alt rs1057517108(-;-)
Reference Rs1057517108(TAGGGGG;TAGGGGG)
Significance Probable-Pathogenic
Disease Deficiency of alpha-mannosidase
Variation info
Gene MAN2B1
CLNDBN Deficiency of alpha-mannosidase
Reversed 1
HGVS NC_000019.9:g.12774509_12774515delCCCCCTA
CLNSRC
CLNACC RCV000409213.1,