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rs1057520708

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057520708(C;T)
Make rs1057520708(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome16
Position8801889
GenePMM2
is asnp
is mentioned by
dbSNPrs1057520708
dbSNP (old)rs1057520708
ClinGenrs1057520708
ebirs1057520708
HLIrs1057520708
Exacrs1057520708
Gnomadrs1057520708
Varsomers1057520708
LitVarrs1057520708
Maprs1057520708
PheGenIrs1057520708
Biobankrs1057520708
1000 genomesrs1057520708
hgdprs1057520708
ensemblrs1057520708
gopubmedrs1057520708
geneviewrs1057520708
scholarrs1057520708
googlers1057520708
pharmgkbrs1057520708
gwascentralrs1057520708
openSNPrs1057520708
23andMers1057520708
23andMe allrs1057520708
SNPshotrs1057520708
SNPdbers1057520708
MSV3drs1057520708
GWAS Ctlgrs1057520708
Max Magnitude0
ClinVar
Risk rs1057520708(T;T)
Alt rs1057520708(T;T)
Reference Rs1057520708(C;C)
Significance Pathogenic
Disease not provided
Variation info
Gene PMM2
CLNDBN not provided
Reversed 0
HGVS NC_000016.9:g.8895746C>T
CLNSRC
CLNACC RCV000426961.1,