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rs1057517316

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(TTCAC;TTCAC) 0 common in clinvar
Make rs1057517316(-;-)
Make rs1057517316(-;TTCAC)
ReferenceGRCh38.p7 38.3/150
Chromosome19
Position12657004
GeneMAN2B1
is asnp
is mentioned by
dbSNPrs1057517316
dbSNP (old)rs1057517316
ClinGenrs1057517316
ebirs1057517316
HLIrs1057517316
Exacrs1057517316
Gnomadrs1057517316
Varsomers1057517316
Maprs1057517316
PheGenIrs1057517316
Biobankrs1057517316
1000 genomesrs1057517316
hgdprs1057517316
ensemblrs1057517316
gopubmedrs1057517316
geneviewrs1057517316
scholarrs1057517316
googlers1057517316
pharmgkbrs1057517316
gwascentralrs1057517316
openSNPrs1057517316
23andMers1057517316
23andMe allrs1057517316
SNPshotrs1057517316
SNPdbers1057517316
MSV3drs1057517316
GWAS Ctlgrs1057517316
Max Magnitude0
ClinVar
Risk rs1057517316(-;-)
Alt rs1057517316(-;-)
Reference Rs1057517316(TTCAC;TTCAC)
Significance Probable-Pathogenic
Disease Deficiency of alpha-mannosidase
Variation info
Gene MAN2B1
CLNDBN Deficiency of alpha-mannosidase
Reversed 1
HGVS NC_000019.9:g.12767818_12767822delGTGAA
CLNSRC
CLNACC RCV000410001.1,