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rs753948675

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs753948675(G;G)
Make rs753948675(G;T)
ReferenceGRCh38.p2 38.2/147
Chromosome2
Position178579850
GeneTTN, TTN-AS1
is asnp
is mentioned by
dbSNPrs753948675
ebirs753948675
HLIrs753948675
Exacrs753948675
Varsomers753948675
Maprs753948675
PheGenIrs753948675
hapmaprs753948675
1000 genomesrs753948675
hgdprs753948675
ensemblrs753948675
gopubmedrs753948675
geneviewrs753948675
scholarrs753948675
googlers753948675
pharmgkbrs753948675
gwascentralrs753948675
openSNPrs753948675
23andMers753948675
23andMe allrs753948675
SNP Nexus

SNPshotrs753948675
SNPdbers753948675
MSV3drs753948675
GWAS Ctlgrs753948675
Max Magnitude0
ClinVar
Risk rs753948675(G;G)
Alt rs753948675(G;G)
Reference rs753948675(T;T)
Significance Probable-Pathogenic
Disease Congenital muscular dystrophy
Variation info
Gene TTN TTN-AS1
CLNDBN Congenital muscular dystrophy
Reversed 0
HGVS NC_000002.11:g.179444577T>G
CLNSRC
CLNACC RCV000231033.1,