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rs1057515575

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs1057515575(C;C)
Make rs1057515575(C;G)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position151524310
GeneNEB, RIF1
is asnp
is mentioned by
dbSNPrs1057515575
dbSNP (old)rs1057515575
ClinGenrs1057515575
ebirs1057515575
HLIrs1057515575
Exacrs1057515575
Gnomadrs1057515575
Varsomers1057515575
Maprs1057515575
PheGenIrs1057515575
Biobankrs1057515575
1000 genomesrs1057515575
hgdprs1057515575
ensemblrs1057515575
gopubmedrs1057515575
geneviewrs1057515575
scholarrs1057515575
googlers1057515575
pharmgkbrs1057515575
gwascentralrs1057515575
openSNPrs1057515575
23andMers1057515575
23andMe allrs1057515575
SNPshotrs1057515575
SNPdbers1057515575
MSV3drs1057515575
GWAS Ctlgrs1057515575
Max Magnitude0
ClinVar
Risk rs1057515575(C;C)
Alt rs1057515575(C;C)
Reference Rs1057515575(G;G)
Significance Pathogenic
Disease Nemaline myopathy 2
Variation info
Gene NEB
CLNDBN Nemaline myopathy 2
Reversed 1
HGVS NC_000002.11:g.152380824C>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000015095.26,