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rs132630297

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs132630297(C;T)
Make rs132630297(T;T)
ReferenceGRCh38 38.1/141
ChromosomeX
Position134425256
GenePHF6
is asnp
is mentioned by
dbSNPrs132630297
ebirs132630297
HLIrs132630297
Exacrs132630297
Varsomers132630297
Maprs132630297
PheGenIrs132630297
hapmaprs132630297
1000 genomesrs132630297
hgdprs132630297
ensemblrs132630297
gopubmedrs132630297
geneviewrs132630297
scholarrs132630297
googlers132630297
pharmgkbrs132630297
gwascentralrs132630297
openSNPrs132630297
23andMers132630297
23andMe allrs132630297
SNP Nexus

SNPshotrs132630297
SNPdbers132630297
MSV3drs132630297
GWAS Ctlgrs132630297
Max Magnitude0
OMIM300414
Desc
Variant0001
Relatedalso
ClinVar
Risk rs132630297(T;T)
Alt rs132630297(T;T)
Reference rs132630297(C;C)
Significance Pathogenic
Disease Borjeson-Forssman-Lehmann syndrome
Variation info
Gene PHF6
CLNDBN Borjeson-Forssman-Lehmann syndrome
Reversed 0
HGVS NC_000023.10:g.133559286C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000011812.10,