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rs1057518755

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057518755(-;CAAA)
Make rs1057518755(CAAA;CAAA)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position21467527
GenePYROXD1
is asnp
is mentioned by
dbSNPrs1057518755
dbSNP (old)rs1057518755
ClinGenrs1057518755
ebirs1057518755
HLIrs1057518755
Exacrs1057518755
Gnomadrs1057518755
Varsomers1057518755
Maprs1057518755
PheGenIrs1057518755
Biobankrs1057518755
1000 genomesrs1057518755
hgdprs1057518755
ensemblrs1057518755
gopubmedrs1057518755
geneviewrs1057518755
scholarrs1057518755
googlers1057518755
pharmgkbrs1057518755
gwascentralrs1057518755
openSNPrs1057518755
23andMers1057518755
23andMe allrs1057518755
SNPshotrs1057518755
SNPdbers1057518755
MSV3drs1057518755
GWAS Ctlgrs1057518755
Max Magnitude0
ClinVar
Risk rs1057518755(CAAA;CAAA)
Alt rs1057518755(CAAA;CAAA)
Reference Rs1057518755(-;-)
Significance Pathogenic
Disease Myopathy
Variation info
Gene PYROXD1
CLNDBN Myopathy, myofibrillar, 8
Reversed 0
HGVS NC_000012.11:g.21620458_21620461dupCAAA
CLNSRC OMIM Allelic Variant
CLNACC RCV000412529.1,