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rs122459149

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs122459149(C;C)
Make rs122459149(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position136208578
GeneFHL1
is asnp
is mentioned by
dbSNPrs122459149
ebirs122459149
HLIrs122459149
Exacrs122459149
Varsomers122459149
Maprs122459149
PheGenIrs122459149
hapmaprs122459149
1000 genomesrs122459149
hgdprs122459149
ensemblrs122459149
gopubmedrs122459149
geneviewrs122459149
scholarrs122459149
googlers122459149
pharmgkbrs122459149
gwascentralrs122459149
openSNPrs122459149
23andMers122459149
23andMe allrs122459149
SNP Nexus

SNPshotrs122459149
SNPdbers122459149
MSV3drs122459149
GWAS Ctlgrs122459149
Max Magnitude0
OMIM300163
Desc
Variant0011
Relatedalso
ClinVar
Risk rs122459149(C;C)
Alt rs122459149(C;C)
Reference rs122459149(T;T)
Significance Pathogenic
Disease Emery-Dreifuss muscular dystrophy 6
Variation info
Gene FHL1
CLNDBN Emery-Dreifuss muscular dystrophy 6
Reversed 0
HGVS NC_000023.10:g.135290737T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000012313.12,