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rs1057519573

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1057519573(C;T)
Make rs1057519573(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position68197407
GeneMYPN
is asnp
is mentioned by
dbSNPrs1057519573
dbSNP (classic)rs1057519573
ClinGenrs1057519573
ebirs1057519573
HLIrs1057519573
Exacrs1057519573
Gnomadrs1057519573
Varsomers1057519573
LitVarrs1057519573
Maprs1057519573
PheGenIrs1057519573
Biobankrs1057519573
1000 genomesrs1057519573
hgdprs1057519573
ensemblrs1057519573
geneviewrs1057519573
scholarrs1057519573
googlers1057519573
pharmgkbrs1057519573
gwascentralrs1057519573
openSNPrs1057519573
23andMers1057519573
23andMe allrs1057519573
SNPshotrs1057519573
SNPdbers1057519573
MSV3drs1057519573
GWAS Ctlgrs1057519573
Max Magnitude0
ClinVar
Risk rs1057519573(T;T)
Alt rs1057519573(T;T)
Reference Rs1057519573(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.69957164C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000417040.1,