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rs727504483

From SNPedia

Orientationminus
Geno Mag Summary
(AACA;AACA) 0 common in clinvar
Make rs727504483(-;-)
Make rs727504483(-;AACA)
ReferenceGRCh38.p2 38.2/144
Chromosome2
Position178569736
GeneTTN, TTN-AS1
is asnp
is mentioned by
dbSNPrs727504483
ebirs727504483
HLIrs727504483
Exacrs727504483
Varsomers727504483
Maprs727504483
PheGenIrs727504483
hapmaprs727504483
1000 genomesrs727504483
hgdprs727504483
ensemblrs727504483
gopubmedrs727504483
geneviewrs727504483
scholarrs727504483
googlers727504483
pharmgkbrs727504483
gwascentralrs727504483
openSNPrs727504483
23andMers727504483
23andMe allrs727504483
SNP Nexus

SNPshotrs727504483
SNPdbers727504483
MSV3drs727504483
GWAS Ctlgrs727504483
Max Magnitude0
ClinVar
Risk rs727504483(;)
Alt rs727504483(;)
Reference rs727504483(AACA;AACA)
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.179434463_179434466delTGTT
CLNSRC
CLNACC RCV000155611.1,