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rs1057519571

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057519571(A;C)
Make rs1057519571(C;C)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position68195448
GeneMYPN
is asnp
is mentioned by
dbSNPrs1057519571
dbSNP (old)rs1057519571
ClinGenrs1057519571
ebirs1057519571
HLIrs1057519571
Exacrs1057519571
Gnomadrs1057519571
Varsomers1057519571
LitVarrs1057519571
Maprs1057519571
PheGenIrs1057519571
Biobankrs1057519571
1000 genomesrs1057519571
hgdprs1057519571
ensemblrs1057519571
gopubmedrs1057519571
geneviewrs1057519571
scholarrs1057519571
googlers1057519571
pharmgkbrs1057519571
gwascentralrs1057519571
openSNPrs1057519571
23andMers1057519571
23andMe allrs1057519571
SNPshotrs1057519571
SNPdbers1057519571
MSV3drs1057519571
GWAS Ctlgrs1057519571
Max Magnitude0
ClinVar
Risk rs1057519571(C;C)
Alt rs1057519571(C;C)
Reference Rs1057519571(A;A)
Significance Pathogenic
Disease Nemaline myopathy 11
Variation info
Gene MYPN
CLNDBN Nemaline myopathy 11, autosomal recessive
Reversed 0
HGVS NC_000010.10:g.69955205A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000417065.1,