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rs137852211

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs137852211(G;G)
Make rs137852211(G;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position132085992
GeneFRMD7
is asnp
is mentioned by
dbSNPrs137852211
ebirs137852211
HLIrs137852211
Exacrs137852211
Varsomers137852211
Maprs137852211
PheGenIrs137852211
hapmaprs137852211
1000 genomesrs137852211
hgdprs137852211
ensemblrs137852211
gopubmedrs137852211
geneviewrs137852211
scholarrs137852211
googlers137852211
pharmgkbrs137852211
gwascentralrs137852211
openSNPrs137852211
23andMers137852211
23andMe allrs137852211
SNP Nexus

SNPshotrs137852211
SNPdbers137852211
MSV3drs137852211
GWAS Ctlgrs137852211
Max Magnitude0
OMIM300628
Desc
Variant0007
Relatedalso
ClinVar
Risk rs137852211(G;G)
Alt rs137852211(G;G)
Reference rs137852211(T;T)
Significance Pathogenic
Disease Infantile nystagmus
Variation info
Gene FRMD7
CLNDBN Infantile nystagmus, X-linked
Reversed 1
HGVS NC_000023.10:g.131220020A>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011535.7,