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rs559454746

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs559454746(-;-)
Make rs559454746(-;A)
ReferenceGRCh38.p2 38.2/147
Chromosome14
Position104741973
GeneADSSL1
is asnp
is mentioned by
dbSNPrs559454746
ebirs559454746
HLIrs559454746
Exacrs559454746
Varsomers559454746
Maprs559454746
PheGenIrs559454746
hapmaprs559454746
1000 genomesrs559454746
hgdprs559454746
ensemblrs559454746
gopubmedrs559454746
geneviewrs559454746
scholarrs559454746
googlers559454746
pharmgkbrs559454746
gwascentralrs559454746
openSNPrs559454746
23andMers559454746
23andMe allrs559454746
SNP Nexus

SNPshotrs559454746
SNPdbers559454746
MSV3drs559454746
GWAS Ctlgrs559454746
Max Magnitude0
ClinVar
Risk rs559454746(;)
Alt rs559454746(;)
Reference rs559454746(A;A)
Significance Pathogenic
Disease Myopathy
Variation info
Gene ADSSL1
CLNDBN Myopathy, distal, 5
Reversed 0
HGVS NC_000014.8:g.105208310delA
CLNSRC OMIM Allelic Variant
CLNACC RCV000235019.1,