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rs786204430

From SNPedia

Orientationminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs786204430(-;-)
Make rs786204430(-;T)
ReferenceGRCh38.p2 38.2/146
Chromosome2
Position151684829
GeneNEB
is asnp
is mentioned by
dbSNPrs786204430
ebirs786204430
HLIrs786204430
Exacrs786204430
Varsomers786204430
Maprs786204430
PheGenIrs786204430
hapmaprs786204430
1000 genomesrs786204430
hgdprs786204430
ensemblrs786204430
gopubmedrs786204430
geneviewrs786204430
scholarrs786204430
googlers786204430
pharmgkbrs786204430
gwascentralrs786204430
openSNPrs786204430
23andMers786204430
23andMe allrs786204430
SNP Nexus

SNPshotrs786204430
SNPdbers786204430
MSV3drs786204430
GWAS Ctlgrs786204430
Max Magnitude0
ClinVar
Risk rs786204430(;)
Alt rs786204430(;)
Reference rs786204430(T;T)
Significance Probable-Pathogenic
Disease Nemaline myopathy 2
Variation info
Gene NEB
CLNDBN Nemaline myopathy 2
Reversed 1
HGVS NC_000002.11:g.152541343delA
CLNSRC
CLNACC RCV000169034.1,