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rs1060500716

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060500716(C;T)
Make rs1060500716(T;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position154360127
GeneFLNA
is asnp
is mentioned by
dbSNPrs1060500716
dbSNP (old)rs1060500716
ClinGenrs1060500716
ebirs1060500716
HLIrs1060500716
Exacrs1060500716
Gnomadrs1060500716
Varsomers1060500716
LitVarrs1060500716
Maprs1060500716
PheGenIrs1060500716
Biobankrs1060500716
1000 genomesrs1060500716
hgdprs1060500716
ensemblrs1060500716
gopubmedrs1060500716
geneviewrs1060500716
scholarrs1060500716
googlers1060500716
pharmgkbrs1060500716
gwascentralrs1060500716
openSNPrs1060500716
23andMers1060500716
23andMe allrs1060500716
SNPshotrs1060500716
SNPdbers1060500716
MSV3drs1060500716
GWAS Ctlgrs1060500716
Max Magnitude0
ClinVar
Risk rs1060500716(T;T)
Alt rs1060500716(T;T)
Reference Rs1060500716(C;C)
Significance Pathogenic
Disease Frontometaphyseal dysplasia
Variation info
Gene FLNA
CLNDBN Frontometaphyseal dysplasia
Reversed 1
HGVS NC_000023.10:g.153588495G>A
CLNSRC
CLNACC RCV000462485.1,