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rs1057519570

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057519570(-;-)
Make rs1057519570(-;A)
ReferenceGRCh38.p7 38.3/150
Chromosome10
Position68174095
GeneMYPN
is asnp
is mentioned by
dbSNPrs1057519570
dbSNP (classic)rs1057519570
ClinGenrs1057519570
ebirs1057519570
HLIrs1057519570
Exacrs1057519570
Gnomadrs1057519570
Varsomers1057519570
LitVarrs1057519570
Maprs1057519570
PheGenIrs1057519570
Biobankrs1057519570
1000 genomesrs1057519570
hgdprs1057519570
ensemblrs1057519570
geneviewrs1057519570
scholarrs1057519570
googlers1057519570
pharmgkbrs1057519570
gwascentralrs1057519570
openSNPrs1057519570
23andMers1057519570
23andMe allrs1057519570
SNPshotrs1057519570
SNPdbers1057519570
MSV3drs1057519570
GWAS Ctlgrs1057519570
Max Magnitude0
ClinVar
Risk rs1057519570(-;-)
Alt rs1057519570(-;-)
Reference Rs1057519570(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.69933852delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000417052.1,