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rs1057519572

From SNPedia
Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519572(C;T)
Make rs1057519572(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position68197362
GeneMYPN
is asnp
is mentioned by
dbSNPrs1057519572
dbSNP (old)rs1057519572
ClinGenrs1057519572
ebirs1057519572
HLIrs1057519572
Exacrs1057519572
Gnomadrs1057519572
Varsomers1057519572
Maprs1057519572
PheGenIrs1057519572
Biobankrs1057519572
1000 genomesrs1057519572
hgdprs1057519572
ensemblrs1057519572
gopubmedrs1057519572
geneviewrs1057519572
scholarrs1057519572
googlers1057519572
pharmgkbrs1057519572
gwascentralrs1057519572
openSNPrs1057519572
23andMers1057519572
23andMe allrs1057519572
SNPshotrs1057519572
SNPdbers1057519572
MSV3drs1057519572
GWAS Ctlgrs1057519572
Max Magnitude0
ClinVar
Risk rs1057519572(T;T)
Alt rs1057519572(T;T)
Reference Rs1057519572(C;C)
Significance Pathogenic
Disease Nemaline myopathy 11
Variation info
Gene MYPN
CLNDBN Nemaline myopathy 11, autosomal recessive
Reversed 0
HGVS NC_000010.10:g.69957119C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000417054.1,