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rs137853312

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137853312(C;T)
Make rs137853312(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154360238
GeneFLNA
is asnp
is mentioned by
dbSNPrs137853312
ebirs137853312
HLIrs137853312
Exacrs137853312
Varsomers137853312
Maprs137853312
PheGenIrs137853312
hapmaprs137853312
1000 genomesrs137853312
hgdprs137853312
ensemblrs137853312
gopubmedrs137853312
geneviewrs137853312
scholarrs137853312
googlers137853312
pharmgkbrs137853312
gwascentralrs137853312
openSNPrs137853312
23andMers137853312
23andMe allrs137853312
SNP Nexus

SNPshotrs137853312
SNPdbers137853312
MSV3drs137853312
GWAS Ctlgrs137853312
Max Magnitude0
OMIM300017
Desc
Variant0015
Relatedalso
ClinVar
Risk rs137853312(T;T)
Alt rs137853312(T;T)
Reference rs137853312(C;C)
Significance Pathogenic
Disease Frontometaphyseal dysplasia
Variation info
Gene FLNA
CLNDBN Frontometaphyseal dysplasia
Reversed 1
HGVS NC_000023.10:g.153588606G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000012527.25,