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rs137852209

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852209(A;A)
Make rs137852209(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position132097298
GeneFRMD7
is asnp
is mentioned by
dbSNPrs137852209
ebirs137852209
HLIrs137852209
Exacrs137852209
Varsomers137852209
Maprs137852209
PheGenIrs137852209
hapmaprs137852209
1000 genomesrs137852209
hgdprs137852209
ensemblrs137852209
gopubmedrs137852209
geneviewrs137852209
scholarrs137852209
googlers137852209
pharmgkbrs137852209
gwascentralrs137852209
openSNPrs137852209
23andMers137852209
23andMe allrs137852209
SNP Nexus

SNPshotrs137852209
SNPdbers137852209
MSV3drs137852209
GWAS Ctlgrs137852209
Max Magnitude0
OMIM300628
Desc
Variant0004
Relatedalso
ClinVar
Risk rs137852209(A;A)
Alt rs137852209(A;A)
Reference rs137852209(G;G)
Significance Pathogenic
Disease Infantile nystagmus
Variation info
Gene FRMD7
CLNDBN Infantile nystagmus, X-linked
Reversed 1
HGVS NC_000023.10:g.131231326C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011532.2,