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rs786205189

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(-;-) 0 common in clinvar
Make rs786205189(-;ACGTCAAGGCCCGT)
Make rs786205189(ACGTCAAGGCCCGT;ACGTCAAGGCCCGT)
ReferenceGRCh38.p2 38.2/146
ChromosomeX
Position154359822
GeneFLNA
is asnp
is mentioned by
dbSNPrs786205189
dbSNP (classic)rs786205189
ClinGenrs786205189
ebirs786205189
HLIrs786205189
Exacrs786205189
Gnomadrs786205189
Varsomers786205189
LitVarrs786205189
Maprs786205189
PheGenIrs786205189
Biobankrs786205189
1000 genomesrs786205189
hgdprs786205189
ensemblrs786205189
geneviewrs786205189
scholarrs786205189
googlers786205189
pharmgkbrs786205189
gwascentralrs786205189
openSNPrs786205189
23andMers786205189
SNPshotrs786205189
SNPdbers786205189
MSV3drs786205189
GWAS Ctlgrs786205189
Max Magnitude0
ClinVar
Risk rs786205189(ACGTCAAGGCCCGT;ACGTCAAGGCCCGT)
Alt rs786205189(ACGTCAAGGCCCGT;ACGTCAAGGCCCGT)
Reference Rs786205189(-;-)
Significance Probable-Pathogenic
Disease Periventricular nodular heterotopia 1
Variation info
Gene FLNA
CLNDBN Periventricular nodular heterotopia 1
Reversed 1
HGVS NC_000023.10:g.153588191_153588204dupACGGGCCTTGACGT
CLNSRC Claritas Genomics
CLNACC RCV000170410.1,