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

rs122459148

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs122459148(G;G)
Make rs122459148(G;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position136210023
GeneFHL1
is asnp
is mentioned by
dbSNPrs122459148
ebirs122459148
HLIrs122459148
Exacrs122459148
Varsomers122459148
Maprs122459148
PheGenIrs122459148
hapmaprs122459148
1000 genomesrs122459148
hgdprs122459148
ensemblrs122459148
gopubmedrs122459148
geneviewrs122459148
scholarrs122459148
googlers122459148
pharmgkbrs122459148
gwascentralrs122459148
openSNPrs122459148
23andMers122459148
23andMe allrs122459148
SNP Nexus

SNPshotrs122459148
SNPdbers122459148
MSV3drs122459148
GWAS Ctlgrs122459148
Max Magnitude0
OMIM300163
Desc
Variant0010
Relatedalso
ClinVar
Risk rs122459148(G;G)
Alt rs122459148(G;G)
Reference rs122459148(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.135292182T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012312.14,