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rs28935470

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0
(G;G) 0 common in clinvar
Make rs28935470(A;A)
Make rs28935470(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154367505
GeneFLNA
is asnp
is mentioned by
dbSNPrs28935470
dbSNP (old)rs28935470
ClinGenrs28935470
ebirs28935470
HLIrs28935470
Exacrs28935470
Gnomadrs28935470
Varsomers28935470
Maprs28935470
PheGenIrs28935470
Biobankrs28935470
1000 genomesrs28935470
hgdprs28935470
ensemblrs28935470
gopubmedrs28935470
geneviewrs28935470
scholarrs28935470
googlers28935470
pharmgkbrs28935470
gwascentralrs28935470
openSNPrs28935470
23andMers28935470
23andMe allrs28935470
SNP Nexus

SNPshotrs28935470
SNPdbers28935470
MSV3drs28935470
GWAS Ctlgrs28935470
Max Magnitude0
OMIM300017
DescOTOPALATODIGITAL SYNDROME, TYPE II
Variant0010
Relatedalso
Neighborrs28935471
Distance7186
Neighborrs28935469
Distance339


ClinVar
Risk rs28935470(A;A)
Alt rs28935470(A;A)
Reference Rs28935470(G;G)
Significance Pathogenic
Disease Oto-palato-digital syndrome not provided Oto-palato-digital syndrome Periventricular nodular heterotopia 1
Variation info
Gene FLNA
CLNDBN Oto-palato-digital syndrome, type II not provided Oto-palato-digital syndrome, type I Periventricular nodular heterotopia 1
Reversed 1
HGVS NC_000023.10:g.153595873C>T
CLNSRC HGMD OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012522.14, RCV000079711.3, RCV000178843.1, RCV000178844.1,