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rs137852207

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852207(C;T)
Make rs137852207(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position132085625
GeneFRMD7
is asnp
is mentioned by
dbSNPrs137852207
ebirs137852207
HLIrs137852207
Exacrs137852207
Varsomers137852207
Maprs137852207
PheGenIrs137852207
hapmaprs137852207
1000 genomesrs137852207
hgdprs137852207
ensemblrs137852207
gopubmedrs137852207
geneviewrs137852207
scholarrs137852207
googlers137852207
pharmgkbrs137852207
gwascentralrs137852207
openSNPrs137852207
23andMers137852207
23andMe allrs137852207
SNP Nexus

SNPshotrs137852207
SNPdbers137852207
MSV3drs137852207
GWAS Ctlgrs137852207
Max Magnitude0
OMIM300628
Desc
Variant0001
Relatedalso
ClinVar
Risk rs137852207(T;T)
Alt rs137852207(T;T)
Reference rs137852207(C;C)
Significance Pathogenic
Disease Infantile nystagmus
Variation info
Gene FRMD7
CLNDBN Infantile nystagmus, X-linked
Reversed 1
HGVS NC_000023.10:g.131219653G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011529.5,