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rs1060500505

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060500505(A;A)
Make rs1060500505(A;C)
ReferenceGRCh38.p7 38.3/150
Chromosome2
Position178533241
GeneTTN, TTN-AS1
is asnp
is mentioned by
dbSNPrs1060500505
dbSNP (old)rs1060500505
ClinGenrs1060500505
ebirs1060500505
HLIrs1060500505
Exacrs1060500505
Gnomadrs1060500505
Varsomers1060500505
LitVarrs1060500505
Maprs1060500505
PheGenIrs1060500505
Biobankrs1060500505
1000 genomesrs1060500505
hgdprs1060500505
ensemblrs1060500505
gopubmedrs1060500505
geneviewrs1060500505
scholarrs1060500505
googlers1060500505
pharmgkbrs1060500505
gwascentralrs1060500505
openSNPrs1060500505
23andMers1060500505
23andMe allrs1060500505
SNPshotrs1060500505
SNPdbers1060500505
MSV3drs1060500505
GWAS Ctlgrs1060500505
Max Magnitude0
ClinVar
Risk rs1060500505(A;A)
Alt rs1060500505(A;A)
Reference Rs1060500505(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.179397968G>T
CLNSRC
CLNACC RCV000473864.1,