Have questions? Visit https://www.reddit.com/r/SNPedia

rs398124238

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(AACA;AACA) 0 common in clinvar
(CAAA;CAAA) 0 common in clinvar
Make rs398124238(-;-)
Make rs398124238(-;AACA)
ReferenceGRCh38 38.1/141
Chromosome5
Position137870758
GeneLOC101928005, MYOT
is asnp
is mentioned by
dbSNPrs398124238
dbSNP (old)rs398124238
ClinGenrs398124238
ebirs398124238
HLIrs398124238
Exacrs398124238
Gnomadrs398124238
Varsomers398124238
Maprs398124238
PheGenIrs398124238
Biobankrs398124238
1000 genomesrs398124238
hgdprs398124238
ensemblrs398124238
gopubmedrs398124238
geneviewrs398124238
scholarrs398124238
googlers398124238
pharmgkbrs398124238
gwascentralrs398124238
openSNPrs398124238
23andMers398124238
23andMe allrs398124238
SNP Nexus

SNPshotrs398124238
SNPdbers398124238
MSV3drs398124238
GWAS Ctlgrs398124238
Max Magnitude0
ClinVar
Risk rs398124238(-;-) Rs398124238(CAAA;CAAA)
Alt rs398124238(-;-) Rs398124238(CAAA;CAAA)
Reference Rs398124238(AACA;AACA)
Significance Pathogenic
Disease not provided Limb-girdle muscular dystrophy
Variation info
Gene MYOT LOC101928005
CLNDBN not provided Limb-girdle muscular dystrophy, type 1A
Reversed 0
HGVS NC_000005.9:g.137206447_137206450delAACA
CLNSRC ClinVar
CLNACC RCV000081461.4, RCV000389897.1,