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rs137853314

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853314(G;T)
Make rs137853314(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154367857
GeneFLNA
is asnp
is mentioned by
dbSNPrs137853314
ebirs137853314
HLIrs137853314
Exacrs137853314
Varsomers137853314
Maprs137853314
PheGenIrs137853314
hapmaprs137853314
1000 genomesrs137853314
hgdprs137853314
ensemblrs137853314
gopubmedrs137853314
geneviewrs137853314
scholarrs137853314
googlers137853314
pharmgkbrs137853314
gwascentralrs137853314
openSNPrs137853314
23andMers137853314
23andMe allrs137853314
SNP Nexus

SNPshotrs137853314
SNPdbers137853314
MSV3drs137853314
GWAS Ctlgrs137853314
Max Magnitude0
OMIM300017
Desc
Variant0020
Relatedalso
ClinVar
Risk rs137853314(T;T)
Alt rs137853314(T;T)
Reference rs137853314(G;G)
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.153596225C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012532.24,