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rs6735208

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0
Make rs6735208(A;T)
Make rs6735208(T;T)
ReferenceGRCh38 38.1/141
Chromosome2
Position151679984
GeneNEB
is asnp
is mentioned by
dbSNPrs6735208
dbSNP (classic)rs6735208
ClinGenrs6735208
ebirs6735208
HLIrs6735208
Exacrs6735208
Gnomadrs6735208
Varsomers6735208
LitVarrs6735208
Maprs6735208
PheGenIrs6735208
Biobankrs6735208
1000 genomesrs6735208
hgdprs6735208
ensemblrs6735208
geneviewrs6735208
scholarrs6735208
googlers6735208
pharmgkbrs6735208
gwascentralrs6735208
openSNPrs6735208
23andMers6735208
SNPshotrs6735208
SNPdbers6735208
MSV3drs6735208
GWAS Ctlgrs6735208
GMAF0.3811
Max Magnitude0
? (A;A) (A;T) (T;T) 28




ClinVar
Risk Rs6735208(A;A)
Alt Rs6735208(A;A)
Reference rs6735208(T;T)
Significance Other
Disease not specified Nemaline Myopathy
Variation info
Gene NEB
CLNDBN not specified Nemaline Myopathy, Recessive
Reversed 0
HGVS NC_000002.11:g.152536498T>A
CLNSRC UniProtKB (protein)
CLNACC RCV000081134.10, RCV000265121.1,