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rs137853317

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853317(C;T)
Make rs137853317(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154367878
GeneFLNA
is asnp
is mentioned by
dbSNPrs137853317
ebirs137853317
HLIrs137853317
Exacrs137853317
Varsomers137853317
Maprs137853317
PheGenIrs137853317
hapmaprs137853317
1000 genomesrs137853317
hgdprs137853317
ensemblrs137853317
gopubmedrs137853317
geneviewrs137853317
scholarrs137853317
googlers137853317
pharmgkbrs137853317
gwascentralrs137853317
openSNPrs137853317
23andMers137853317
23andMe allrs137853317
SNP Nexus

SNPshotrs137853317
SNPdbers137853317
MSV3drs137853317
GWAS Ctlgrs137853317
Max Magnitude0
OMIM300017
Desc
Variant0026
Relatedalso
ClinVar
Risk rs137853317(T;T)
Alt rs137853317(T;T)
Reference rs137853317(C;C)
Significance Pathogenic
Disease Oto-palato-digital syndrome Oto-palato-digital syndrome not provided
Variation info
Gene FLNA
CLNDBN Oto-palato-digital syndrome, type I Oto-palato-digital syndrome, type II not provided
Reversed 1
HGVS NC_000023.10:g.153596246G>A
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000012538.17, RCV000012539.16, RCV000153245.3,