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rs786204576

From SNPedia

Orientationminus
Geno Mag Summary
(GT;GT) 0 common in clinvar
Make rs786204576(GT;TG)
Make rs786204576(TG;TG)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position151674475
GeneNEB
is asnp
is mentioned by
dbSNPrs786204576
ebirs786204576
HLIrs786204576
Exacrs786204576
Varsomers786204576
Maprs786204576
PheGenIrs786204576
hapmaprs786204576
1000 genomesrs786204576
hgdprs786204576
ensemblrs786204576
gopubmedrs786204576
geneviewrs786204576
scholarrs786204576
googlers786204576
pharmgkbrs786204576
gwascentralrs786204576
openSNPrs786204576
23andMers786204576
23andMe allrs786204576
SNP Nexus

SNPshotrs786204576
SNPdbers786204576
MSV3drs786204576
GWAS Ctlgrs786204576
Max Magnitude0
ClinVar
Risk rs786204576(TG;TG)
Alt rs786204576(TG;TG)
Reference rs786204576(GT;GT)
Significance Probable-Pathogenic
Disease Nemaline myopathy 2
Variation info
Gene NEB
CLNDBN Nemaline myopathy 2
Reversed 1
HGVS NC_000002.11:g.152530989_152530990delACinsCA
CLNSRC
CLNACC RCV000169318.1,