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rs1057516348

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AGG;AGG) 0 common in clinvar
Make rs1057516348(AGG;TC)
Make rs1057516348(TC;TC)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position151650339
GeneNEB
is asnp
is mentioned by
dbSNPrs1057516348
dbSNP (old)rs1057516348
ClinGenrs1057516348
ebirs1057516348
HLIrs1057516348
Exacrs1057516348
Gnomadrs1057516348
Varsomers1057516348
LitVarrs1057516348
Maprs1057516348
PheGenIrs1057516348
Biobankrs1057516348
1000 genomesrs1057516348
hgdprs1057516348
ensemblrs1057516348
gopubmedrs1057516348
geneviewrs1057516348
scholarrs1057516348
googlers1057516348
pharmgkbrs1057516348
gwascentralrs1057516348
openSNPrs1057516348
23andMers1057516348
23andMe allrs1057516348
SNPshotrs1057516348
SNPdbers1057516348
MSV3drs1057516348
GWAS Ctlgrs1057516348
Max Magnitude0
ClinVar
Risk rs1057516348(TC;TC)
Alt rs1057516348(TC;TC)
Reference Rs1057516348(AGG;AGG)
Significance Probable-Pathogenic
Disease Nemaline myopathy 2
Variation info
Gene NEB
CLNDBN Nemaline myopathy 2
Reversed 1
HGVS NC_000002.11:g.152506853_152506855delCCTinsGA
CLNSRC
CLNACC RCV000410019.1,