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rs1060500717

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs1060500717(C;T)
Make rs1060500717(T;T)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position154352226
GeneFLNA
is asnp
is mentioned by
dbSNPrs1060500717
dbSNP (old)rs1060500717
ClinGenrs1060500717
ebirs1060500717
HLIrs1060500717
Exacrs1060500717
Gnomadrs1060500717
Varsomers1060500717
LitVarrs1060500717
Maprs1060500717
PheGenIrs1060500717
Biobankrs1060500717
1000 genomesrs1060500717
hgdprs1060500717
ensemblrs1060500717
gopubmedrs1060500717
geneviewrs1060500717
scholarrs1060500717
googlers1060500717
pharmgkbrs1060500717
gwascentralrs1060500717
openSNPrs1060500717
23andMers1060500717
23andMe allrs1060500717
SNPshotrs1060500717
SNPdbers1060500717
MSV3drs1060500717
GWAS Ctlgrs1060500717
Max Magnitude0
ClinVar
Risk rs1060500717(T;T)
Alt rs1060500717(T;T)
Reference Rs1060500717(C;C)
Significance Pathogenic
Disease Periventricular nodular heterotopia 1
Variation info
Gene FLNA
CLNDBN Periventricular nodular heterotopia 1
Reversed 1
HGVS NC_000023.10:g.153580594G>A
CLNSRC
CLNACC RCV000457271.1,