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rs1057515573

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057515573(-;-)
Make rs1057515573(-;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position151519019
GeneNEB, RIF1
is asnp
is mentioned by
dbSNPrs1057515573
dbSNP (old)rs1057515573
ClinGenrs1057515573
ebirs1057515573
HLIrs1057515573
Exacrs1057515573
Gnomadrs1057515573
Varsomers1057515573
LitVarrs1057515573
Maprs1057515573
PheGenIrs1057515573
Biobankrs1057515573
1000 genomesrs1057515573
hgdprs1057515573
ensemblrs1057515573
gopubmedrs1057515573
geneviewrs1057515573
scholarrs1057515573
googlers1057515573
pharmgkbrs1057515573
gwascentralrs1057515573
openSNPrs1057515573
23andMers1057515573
23andMe allrs1057515573
SNPshotrs1057515573
SNPdbers1057515573
MSV3drs1057515573
GWAS Ctlgrs1057515573
Max Magnitude0
ClinVar
Risk rs1057515573(-;-)
Alt rs1057515573(-;-)
Reference Rs1057515573(G;G)
Significance Pathogenic
Disease Nemaline myopathy 2
Variation info
Gene NEB
CLNDBN Nemaline myopathy 2
Reversed 1
HGVS NC_000002.11:g.152375533delC
CLNSRC OMIM Allelic Variant
CLNACC RCV000015090.25,