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rs786200914

From SNPedia

Orientationplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs786200914(A;A)
Make rs786200914(A;G)
ReferenceGRCh38.p2 38.2/146
ChromosomeX
Position136208642
GeneFHL1
is asnp
is mentioned by
dbSNPrs786200914
ebirs786200914
HLIrs786200914
Exacrs786200914
Varsomers786200914
Maprs786200914
PheGenIrs786200914
hapmaprs786200914
1000 genomesrs786200914
hgdprs786200914
ensemblrs786200914
gopubmedrs786200914
geneviewrs786200914
scholarrs786200914
googlers786200914
pharmgkbrs786200914
gwascentralrs786200914
openSNPrs786200914
23andMers786200914
23andMe allrs786200914
SNP Nexus

SNPshotrs786200914
SNPdbers786200914
MSV3drs786200914
GWAS Ctlgrs786200914
Max Magnitude0
ClinVar
Risk rs786200914(A;A)
Alt rs786200914(A;A)
Reference rs786200914(G;G)
Significance Pathogenic
Disease Myopathy with postural muscle atrophy
Variation info
Gene FHL1
CLNDBN Myopathy with postural muscle atrophy, X-linked
Reversed 0
HGVS NC_000023.10:g.135290801G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012316.26,