Have questions? Visit https://www.reddit.com/r/SNPedia

rs137852212

From SNPedia

Orientationminus
Stabilizedminus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs137852212(C;G)
Make rs137852212(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position132084546
GeneFRMD7
is asnp
is mentioned by
dbSNPrs137852212
ebirs137852212
HLIrs137852212
Exacrs137852212
Varsomers137852212
Maprs137852212
PheGenIrs137852212
hapmaprs137852212
1000 genomesrs137852212
hgdprs137852212
ensemblrs137852212
gopubmedrs137852212
geneviewrs137852212
scholarrs137852212
googlers137852212
pharmgkbrs137852212
gwascentralrs137852212
openSNPrs137852212
23andMers137852212
23andMe allrs137852212
SNP Nexus

SNPshotrs137852212
SNPdbers137852212
MSV3drs137852212
GWAS Ctlgrs137852212
Max Magnitude0
OMIM300628
Desc
Variant0008
Relatedalso
ClinVar
Risk rs137852212(G;G)
Alt rs137852212(G;G)
Reference rs137852212(C;C)
Significance Pathogenic
Disease Infantile nystagmus
Variation info
Gene FRMD7
CLNDBN Infantile nystagmus, X-linked
Reversed 1
HGVS NC_000023.10:g.131218574G>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011536.4,