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rs727504482

From SNPedia

Orientationminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs727504482(-;-)
Make rs727504482(-;G)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position178530596
GeneTTN, TTN-AS1
is asnp
is mentioned by
dbSNPrs727504482
ebirs727504482
HLIrs727504482
Exacrs727504482
Varsomers727504482
Maprs727504482
PheGenIrs727504482
hapmaprs727504482
1000 genomesrs727504482
hgdprs727504482
ensemblrs727504482
gopubmedrs727504482
geneviewrs727504482
scholarrs727504482
googlers727504482
pharmgkbrs727504482
gwascentralrs727504482
openSNPrs727504482
23andMers727504482
23andMe allrs727504482
SNP Nexus

SNPshotrs727504482
SNPdbers727504482
MSV3drs727504482
GWAS Ctlgrs727504482
Max Magnitude0
ClinVar
Risk rs727504482(;)
Alt rs727504482(;)
Reference rs727504482(G;G)
Significance Probable-Pathogenic
Disease Autosomal recessive centronuclear myopathy
Variation info
Gene TTN TTN-AS1
CLNDBN Autosomal recessive centronuclear myopathy
Reversed 1
HGVS NC_000002.11:g.179395323delC
CLNSRC
CLNACC RCV000155611.1,