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rs1057517317

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs1057517317(A;G)
Make rs1057517317(G;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position151663861
GeneNEB
is asnp
is mentioned by
dbSNPrs1057517317
dbSNP (old)rs1057517317
ClinGenrs1057517317
ebirs1057517317
HLIrs1057517317
Exacrs1057517317
Gnomadrs1057517317
Varsomers1057517317
Maprs1057517317
PheGenIrs1057517317
Biobankrs1057517317
1000 genomesrs1057517317
hgdprs1057517317
ensemblrs1057517317
gopubmedrs1057517317
geneviewrs1057517317
scholarrs1057517317
googlers1057517317
pharmgkbrs1057517317
gwascentralrs1057517317
openSNPrs1057517317
23andMers1057517317
23andMe allrs1057517317
SNPshotrs1057517317
SNPdbers1057517317
MSV3drs1057517317
GWAS Ctlgrs1057517317
Max Magnitude0
ClinVar
Risk rs1057517317(G;G)
Alt rs1057517317(G;G)
Reference Rs1057517317(A;A)
Significance Probable-Pathogenic
Disease Nemaline myopathy 2
Variation info
Gene NEB
CLNDBN Nemaline myopathy 2
Reversed 1
HGVS NC_000002.11:g.152520375T>C
CLNSRC
CLNACC RCV000409074.1,