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rs132630298

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs132630298(G;T)
Make rs132630298(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position134393556
GenePHF6
is asnp
is mentioned by
dbSNPrs132630298
ebirs132630298
HLIrs132630298
Exacrs132630298
Varsomers132630298
Maprs132630298
PheGenIrs132630298
hapmaprs132630298
1000 genomesrs132630298
hgdprs132630298
ensemblrs132630298
gopubmedrs132630298
geneviewrs132630298
scholarrs132630298
googlers132630298
pharmgkbrs132630298
gwascentralrs132630298
openSNPrs132630298
23andMers132630298
23andMe allrs132630298
SNP Nexus

SNPshotrs132630298
SNPdbers132630298
MSV3drs132630298
GWAS Ctlgrs132630298
Max Magnitude0
OMIM300414
Desc
Variant0002
Relatedalso
ClinVar
Risk rs132630298(T;T)
Alt rs132630298(T;T)
Reference rs132630298(G;G)
Significance Pathogenic
Disease Borjeson-Forssman-Lehmann syndrome
Variation info
Gene PHF6
CLNDBN Borjeson-Forssman-Lehmann syndrome
Reversed 0
HGVS NC_000023.10:g.133527586G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011813.6,