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rs587777489

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs587777489(G;T)
Make rs587777489(T;T)
ReferenceGRCh38 38.1/142
ChromosomeX
Position134417248
GenePHF6
is asnp
is mentioned by
dbSNPrs587777489
ebirs587777489
HLIrs587777489
Exacrs587777489
Varsomers587777489
Maprs587777489
PheGenIrs587777489
hapmaprs587777489
1000 genomesrs587777489
hgdprs587777489
ensemblrs587777489
gopubmedrs587777489
geneviewrs587777489
scholarrs587777489
googlers587777489
pharmgkbrs587777489
gwascentralrs587777489
openSNPrs587777489
23andMers587777489
23andMe allrs587777489
SNP Nexus

SNPshotrs587777489
SNPdbers587777489
MSV3drs587777489
GWAS Ctlgrs587777489
Max Magnitude0
ClinVar
Risk rs587777489(T;T)
Alt rs587777489(T;T)
Reference rs587777489(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.133551278G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000128447.2,