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rs137852208

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852208(C;T)
Make rs137852208(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position132080053
GeneFRMD7
is asnp
is mentioned by
dbSNPrs137852208
ebirs137852208
HLIrs137852208
Exacrs137852208
Varsomers137852208
Maprs137852208
PheGenIrs137852208
hapmaprs137852208
1000 genomesrs137852208
hgdprs137852208
ensemblrs137852208
gopubmedrs137852208
geneviewrs137852208
scholarrs137852208
googlers137852208
pharmgkbrs137852208
gwascentralrs137852208
openSNPrs137852208
23andMers137852208
23andMe allrs137852208
SNP Nexus

SNPshotrs137852208
SNPdbers137852208
MSV3drs137852208
GWAS Ctlgrs137852208
Max Magnitude0
OMIM300628
Desc
Variant0002
Relatedalso
ClinVar
Risk rs137852208(T;T)
Alt rs137852208(T;T)
Reference rs137852208(C;C)
Significance Pathogenic
Disease Infantile nystagmus
Variation info
Gene FRMD7
CLNDBN Infantile nystagmus, X-linked
Reversed 1
HGVS NC_000023.10:g.131214081G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011530.5,