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rs1057516612

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(GGAG;GGAG) 0 common in clinvar
Make rs1057516612(GGAG;TGA)
Make rs1057516612(TGA;TGA)
ReferenceGRCh38.p7 38.3/150
Chromosome11
Position64752493
GenePYGM
is asnp
is mentioned by
dbSNPrs1057516612
dbSNP (old)rs1057516612
ClinGenrs1057516612
ebirs1057516612
HLIrs1057516612
Exacrs1057516612
Gnomadrs1057516612
Varsomers1057516612
Maprs1057516612
PheGenIrs1057516612
Biobankrs1057516612
1000 genomesrs1057516612
hgdprs1057516612
ensemblrs1057516612
gopubmedrs1057516612
geneviewrs1057516612
scholarrs1057516612
googlers1057516612
pharmgkbrs1057516612
gwascentralrs1057516612
openSNPrs1057516612
23andMers1057516612
23andMe allrs1057516612
SNPshotrs1057516612
SNPdbers1057516612
MSV3drs1057516612
GWAS Ctlgrs1057516612
Max Magnitude0
ClinVar
Risk rs1057516612(TGA;TGA)
Alt rs1057516612(TGA;TGA)
Reference Rs1057516612(GGAG;GGAG)
Significance Probable-Pathogenic
Disease Glycogen storage disease
Variation info
Gene PYGM
CLNDBN Glycogen storage disease, type V
Reversed 1
HGVS NC_000011.9:g.64519965_64519968delCTCCinsTCA
CLNSRC
CLNACC RCV000409188.1,