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rs398124172

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(AAATAAACGAG;AAATAAACGAG) 0 common in clinvar
Make rs398124172(-;-)
Make rs398124172(-;AAATAAACGAG)
ReferenceGRCh38 38.1/141
Chromosome2
Position151643269
GeneNEB
is asnp
is mentioned by
dbSNPrs398124172
ebirs398124172
HLIrs398124172
Exacrs398124172
Varsomers398124172
Maprs398124172
PheGenIrs398124172
hapmaprs398124172
1000 genomesrs398124172
hgdprs398124172
ensemblrs398124172
gopubmedrs398124172
geneviewrs398124172
scholarrs398124172
googlers398124172
pharmgkbrs398124172
gwascentralrs398124172
openSNPrs398124172
23andMers398124172
23andMe allrs398124172
SNP Nexus

SNPshotrs398124172
SNPdbers398124172
MSV3drs398124172
GWAS Ctlgrs398124172
Max Magnitude0
ClinVar
Risk
Alt
Reference Rs398124172(AAATAAACGAG;AAATAAACGAG)
Significance Pathogenic
Disease not provided Nemaline myopathy 2
Variation info
Gene NEB
CLNDBN not provided Nemaline myopathy 2
Reversed 1
HGVS NC_000002.11:g.152499783_152499793delCTCGTTTATTT
CLNSRC HGMD
CLNACC RCV000081144.3, RCV000179210.1,