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rs137853318

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137853318(G;T)
Make rs137853318(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154367732
GeneFLNA
is asnp
is mentioned by
dbSNPrs137853318
ebirs137853318
HLIrs137853318
Exacrs137853318
Varsomers137853318
Maprs137853318
PheGenIrs137853318
hapmaprs137853318
1000 genomesrs137853318
hgdprs137853318
ensemblrs137853318
gopubmedrs137853318
geneviewrs137853318
scholarrs137853318
googlers137853318
pharmgkbrs137853318
gwascentralrs137853318
openSNPrs137853318
23andMers137853318
23andMe allrs137853318
SNP Nexus

SNPshotrs137853318
SNPdbers137853318
MSV3drs137853318
GWAS Ctlgrs137853318
Max Magnitude0
OMIM300017
Desc
Variant0027
Relatedalso
ClinVar
Risk rs137853318(T;T)
Alt rs137853318(T;T)
Reference rs137853318(G;G)
Significance Pathogenic
Disease Oto-palato-digital syndrome
Variation info
Gene FLNA
CLNDBN Oto-palato-digital syndrome, type II
Reversed 1
HGVS NC_000023.10:g.153596100C>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012540.16,