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rs28935469

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs28935469(C;T)
Make rs28935469(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154367844
GeneFLNA
is asnp
is mentioned by
dbSNPrs28935469
dbSNP (classic)rs28935469
ClinGenrs28935469
ebirs28935469
HLIrs28935469
Exacrs28935469
Gnomadrs28935469
Varsomers28935469
LitVarrs28935469
Maprs28935469
PheGenIrs28935469
Biobankrs28935469
1000 genomesrs28935469
hgdprs28935469
ensemblrs28935469
geneviewrs28935469
scholarrs28935469
googlers28935469
pharmgkbrs28935469
gwascentralrs28935469
openSNPrs28935469
23andMers28935469
SNPshotrs28935469
SNPdbers28935469
MSV3drs28935469
GWAS Ctlgrs28935469
Max Magnitude0
OMIM300017
DescOTOPALATODIGITAL SYNDROME, TYPE I
Variant0009
Relatedalso



ClinVar
Risk rs28935469(T;T)
Alt rs28935469(T;T)
Reference Rs28935469(C;C)
Significance Pathogenic
Disease Oto-palato-digital syndrome Cleft palate Conductive hearing impairment Short stature
Variation info
Gene FLNA
CLNDBN Oto-palato-digital syndrome, type I Cleft palate Conductive hearing impairment Short stature
Reversed 1
HGVS NC_000023.10:g.153596212G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000012521.16, RCV000415125.1,