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rs132630300

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs132630300(C;C)
Make rs132630300(C;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position134377619
GenePHF6
is asnp
is mentioned by
dbSNPrs132630300
ebirs132630300
HLIrs132630300
Exacrs132630300
Varsomers132630300
Maprs132630300
PheGenIrs132630300
hapmaprs132630300
1000 genomesrs132630300
hgdprs132630300
ensemblrs132630300
gopubmedrs132630300
geneviewrs132630300
scholarrs132630300
googlers132630300
pharmgkbrs132630300
gwascentralrs132630300
openSNPrs132630300
23andMers132630300
23andMe allrs132630300
SNP Nexus

SNPshotrs132630300
SNPdbers132630300
MSV3drs132630300
GWAS Ctlgrs132630300
Max Magnitude0
OMIM300414
Desc
Variant0006
Relatedalso
ClinVar
Risk rs132630300(C;C)
Alt rs132630300(C;C)
Reference rs132630300(T;T)
Significance Pathogenic
Disease Borjeson-Forssman-Lehmann syndrome
Variation info
Gene PHF6
CLNDBN Borjeson-Forssman-Lehmann syndrome
Reversed 0
HGVS NC_000023.10:g.133511649T>C
CLNSRC OMIM Allelic Variant
CLNACC RCV000011817.9,