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rs28935471

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(A;A) 0 common in clinvar
(T;T) 0
Make rs28935471(A;C)
Make rs28935471(C;C)
ReferenceGRCh38 38.1/141
ChromosomeX
Position154360319
GeneFLNA
is asnp
is mentioned by
dbSNPrs28935471
ebirs28935471
HLIrs28935471
Exacrs28935471
Varsomers28935471
Maprs28935471
PheGenIrs28935471
hapmaprs28935471
1000 genomesrs28935471
hgdprs28935471
ensemblrs28935471
gopubmedrs28935471
geneviewrs28935471
scholarrs28935471
googlers28935471
pharmgkbrs28935471
gwascentralrs28935471
openSNPrs28935471
23andMers28935471
23andMe allrs28935471
SNP Nexus

SNPshotrs28935471
SNPdbers28935471
MSV3drs28935471
GWAS Ctlgrs28935471
Max Magnitude0
OMIM300017
DescFRONTOMETAPHYSEAL DYSPLASIA
Variant0011
Relatedalso
Neighborrs28935472
Distance86
Neighborrs28935470
Distance7186


ClinVar
Risk rs28935471(C;C)
Alt rs28935471(C;C)
Reference rs28935471(A;A)
Significance Pathogenic
Disease Frontometaphyseal dysplasia
Variation info
Gene FLNA
CLNDBN Frontometaphyseal dysplasia
Reversed 1
HGVS NC_000023.10:g.153588687T>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000012523.24,