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rs1060500471

From SNPedia
Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060500471(C;T)
Make rs1060500471(T;T)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position178534554
GeneTTN, TTN-AS1
is asnp
is mentioned by
dbSNPrs1060500471
dbSNP (old)rs1060500471
ClinGenrs1060500471
ebirs1060500471
HLIrs1060500471
Exacrs1060500471
Gnomadrs1060500471
Varsomers1060500471
Maprs1060500471
PheGenIrs1060500471
Biobankrs1060500471
1000 genomesrs1060500471
hgdprs1060500471
ensemblrs1060500471
gopubmedrs1060500471
geneviewrs1060500471
scholarrs1060500471
googlers1060500471
pharmgkbrs1060500471
gwascentralrs1060500471
openSNPrs1060500471
23andMers1060500471
23andMe allrs1060500471
SNPshotrs1060500471
SNPdbers1060500471
MSV3drs1060500471
GWAS Ctlgrs1060500471
Max Magnitude0
ClinVar
Risk rs1060500471(T;T)
Alt rs1060500471(T;T)
Reference Rs1060500471(C;C)
Significance Probable-Pathogenic
Disease Limb-girdle muscular dystrophy
Variation info
Gene TTN TTN-AS1
CLNDBN Limb-girdle muscular dystrophy, type 2J
Reversed 1
HGVS NC_000002.11:g.179399281G>A
CLNSRC
CLNACC RCV000471829.1,