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rs1057515574

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs1057515574(-;GTTT)
Make rs1057515574(GTTT;GTTT)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position151508057
GeneNEB, RIF1
is asnp
is mentioned by
dbSNPrs1057515574
dbSNP (old)rs1057515574
ClinGenrs1057515574
ebirs1057515574
HLIrs1057515574
Exacrs1057515574
Gnomadrs1057515574
Varsomers1057515574
Maprs1057515574
PheGenIrs1057515574
Biobankrs1057515574
1000 genomesrs1057515574
hgdprs1057515574
ensemblrs1057515574
gopubmedrs1057515574
geneviewrs1057515574
scholarrs1057515574
googlers1057515574
pharmgkbrs1057515574
gwascentralrs1057515574
openSNPrs1057515574
23andMers1057515574
23andMe allrs1057515574
SNPshotrs1057515574
SNPdbers1057515574
MSV3drs1057515574
GWAS Ctlgrs1057515574
Max Magnitude0
ClinVar
Risk rs1057515574(GTTT;GTTT)
Alt rs1057515574(GTTT;GTTT)
Reference Rs1057515574(-;-)
Significance Pathogenic
Disease Nemaline myopathy 2
Variation info
Gene NEB
CLNDBN Nemaline myopathy 2
Reversed 1
HGVS NC_000002.11:g.152364572_152364575dupAAAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000015091.26,