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rs797044606

From SNPedia

Orientationminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs797044606(-;TATT)
Make rs797044606(TATT;TATT)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position151496281
GeneNEB, RIF1
is asnp
is mentioned by
dbSNPrs797044606
ClinGenrs797044606
ebirs797044606
HLIrs797044606
Exacrs797044606
Varsomers797044606
Maprs797044606
PheGenIrs797044606
hapmaprs797044606
1000 genomesrs797044606
hgdprs797044606
ensemblrs797044606
gopubmedrs797044606
geneviewrs797044606
scholarrs797044606
googlers797044606
pharmgkbrs797044606
gwascentralrs797044606
openSNPrs797044606
23andMers797044606
23andMe allrs797044606
SNP Nexus

SNPshotrs797044606
SNPdbers797044606
MSV3drs797044606
GWAS Ctlgrs797044606
Max Magnitude0
ClinVar
Risk rs797044606(TATT;TATT)
Alt rs797044606(TATT;TATT)
Reference Rs797044606(;)
Significance Probable-Pathogenic
Disease Nemaline myopathy 2
Variation info
Gene LOC101929336 NEB
CLNDBN Nemaline myopathy 2
Reversed 1
HGVS NC_000002.11:g.152352796_152352799dupAATA
CLNSRC
CLNACC RCV000193542.1,