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

rs132630301

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs132630301(A;T)
Make rs132630301(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position134377639
GenePHF6
is asnp
is mentioned by
dbSNPrs132630301
ebirs132630301
HLIrs132630301
Exacrs132630301
Varsomers132630301
Maprs132630301
PheGenIrs132630301
hapmaprs132630301
1000 genomesrs132630301
hgdprs132630301
ensemblrs132630301
gopubmedrs132630301
geneviewrs132630301
scholarrs132630301
googlers132630301
pharmgkbrs132630301
gwascentralrs132630301
openSNPrs132630301
23andMers132630301
23andMe allrs132630301
SNP Nexus

SNPshotrs132630301
SNPdbers132630301
MSV3drs132630301
GWAS Ctlgrs132630301
Max Magnitude0
OMIM300414
Desc
Variant0008
Relatedalso
ClinVar
Risk rs132630301(T;T)
Alt rs132630301(T;T)
Reference rs132630301(A;A)
Significance Pathogenic
Disease Borjeson-Forssman-Lehmann syndrome
Variation info
Gene PHF6
CLNDBN Borjeson-Forssman-Lehmann syndrome
Reversed 0
HGVS NC_000023.10:g.133511669A>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011819.5,