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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
ebirs28935469
HLIrs28935469
Exacrs28935469
Varsomers28935469
Maprs28935469
PheGenIrs28935469
hapmaprs28935469
1000 genomesrs28935469
hgdprs28935469
ensemblrs28935469
gopubmedrs28935469
geneviewrs28935469
scholarrs28935469
googlers28935469
pharmgkbrs28935469
gwascentralrs28935469
openSNPrs28935469
23andMers28935469
23andMe allrs28935469
SNP Nexus

SNPshotrs28935469
SNPdbers28935469
MSV3drs28935469
GWAS Ctlgrs28935469
Max Magnitude0
OMIM300017
DescOTOPALATODIGITAL SYNDROME, TYPE I
Variant0009
Relatedalso
Neighborrs28935470
Distance339
Neighborrs28935169
Distance3157


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