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rs1057518754

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057518754(A;A)
Make rs1057518754(A;G)
ReferenceGRCh38.p7 38.3/150
Chromosome12
Position21449692
GenePYROXD1
is asnp
is mentioned by
dbSNPrs1057518754
dbSNP (old)rs1057518754
ClinGenrs1057518754
ebirs1057518754
HLIrs1057518754
Exacrs1057518754
Gnomadrs1057518754
Varsomers1057518754
Maprs1057518754
PheGenIrs1057518754
Biobankrs1057518754
1000 genomesrs1057518754
hgdprs1057518754
ensemblrs1057518754
gopubmedrs1057518754
geneviewrs1057518754
scholarrs1057518754
googlers1057518754
pharmgkbrs1057518754
gwascentralrs1057518754
openSNPrs1057518754
23andMers1057518754
23andMe allrs1057518754
SNPshotrs1057518754
SNPdbers1057518754
MSV3drs1057518754
GWAS Ctlgrs1057518754
Max Magnitude0
ClinVar
Risk rs1057518754(A;A)
Alt rs1057518754(A;A)
Reference Rs1057518754(G;G)
Significance Pathogenic
Disease Myopathy
Variation info
Gene PYROXD1
CLNDBN Myopathy, myofibrillar, 8
Reversed 0
HGVS NC_000012.11:g.21602626G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000412626.1,