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rs797044690

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(CCTCAACGT;CCTCAACGT) 0 common in clinvar
Make rs797044690(CCTCAACGT;TGGC)
Make rs797044690(TGGC;TGGC)
ReferenceGRCh38.p2 38.2/147
ChromosomeX
Position154359272
GeneFLNA
is asnp
is mentioned by
dbSNPrs797044690
dbSNP (old)rs797044690
ClinGenrs797044690
ebirs797044690
HLIrs797044690
Exacrs797044690
Varsomers797044690
Maprs797044690
PheGenIrs797044690
Biobankrs797044690
1000 genomesrs797044690
hgdprs797044690
ensemblrs797044690
gopubmedrs797044690
geneviewrs797044690
scholarrs797044690
googlers797044690
pharmgkbrs797044690
gwascentralrs797044690
openSNPrs797044690
23andMers797044690
23andMe allrs797044690
SNP Nexus

SNPshotrs797044690
SNPdbers797044690
MSV3drs797044690
GWAS Ctlgrs797044690
Max Magnitude0
ClinVar
Risk rs797044690(TGGC;TGGC)
Alt rs797044690(TGGC;TGGC)
Reference Rs797044690(CCTCAACGT;CCTCAACGT)
Significance Pathogenic
Disease Periventricular nodular heterotopia 1
Variation info
Gene FLNA
CLNDBN Periventricular nodular heterotopia 1
Reversed 1
HGVS NC_000023.10:g.153587640_153587648delACGTTGAGGinsGCCA
CLNSRC
CLNACC RCV000176540.1,