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rs137852210

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs137852210(A;A)
Make rs137852210(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position132100704
GeneFRMD7
is asnp
is mentioned by
dbSNPrs137852210
ebirs137852210
HLIrs137852210
Exacrs137852210
Varsomers137852210
Maprs137852210
PheGenIrs137852210
hapmaprs137852210
1000 genomesrs137852210
hgdprs137852210
ensemblrs137852210
gopubmedrs137852210
geneviewrs137852210
scholarrs137852210
googlers137852210
pharmgkbrs137852210
gwascentralrs137852210
openSNPrs137852210
23andMers137852210
23andMe allrs137852210
SNP Nexus

SNPshotrs137852210
SNPdbers137852210
MSV3drs137852210
GWAS Ctlgrs137852210
Max Magnitude0
OMIM300628
Desc
Variant0005
Relatedalso
ClinVar
Risk rs137852210(A;A)
Alt rs137852210(A;A)
Reference rs137852210(G;G)
Significance Pathogenic
Disease Infantile nystagmus
Variation info
Gene FRMD7
CLNDBN Infantile nystagmus, X-linked
Reversed 1
HGVS NC_000023.10:g.131234732C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011533.10,