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rs140614802

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs140614802(A;A)
Make rs140614802(A;G)
ReferenceGRCh38.p2 38.2/147
Chromosome14
Position104741231
GeneADSSL1
is asnp
is mentioned by
dbSNPrs140614802
ebirs140614802
HLIrs140614802
Exacrs140614802
Varsomers140614802
Maprs140614802
PheGenIrs140614802
hapmaprs140614802
1000 genomesrs140614802
hgdprs140614802
ensemblrs140614802
gopubmedrs140614802
geneviewrs140614802
scholarrs140614802
googlers140614802
pharmgkbrs140614802
gwascentralrs140614802
openSNPrs140614802
23andMers140614802
23andMe allrs140614802
SNP Nexus

SNPshotrs140614802
SNPdbers140614802
MSV3drs140614802
GWAS Ctlgrs140614802
Max Magnitude0
ClinVar
Risk rs140614802(A;A)
Alt rs140614802(A;A)
Reference rs140614802(G;G)
Significance Pathogenic
Disease Myopathy
Variation info
Gene ADSSL1
CLNDBN Myopathy, distal, 5
Reversed 0
HGVS NC_000014.8:g.105207568G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000235016.1,