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rs132630299

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs132630299(A;A)
Make rs132630299(A;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position134377751
GenePHF6
is asnp
is mentioned by
dbSNPrs132630299
ebirs132630299
HLIrs132630299
Exacrs132630299
Varsomers132630299
Maprs132630299
PheGenIrs132630299
hapmaprs132630299
1000 genomesrs132630299
hgdprs132630299
ensemblrs132630299
gopubmedrs132630299
geneviewrs132630299
scholarrs132630299
googlers132630299
pharmgkbrs132630299
gwascentralrs132630299
openSNPrs132630299
23andMers132630299
23andMe allrs132630299
SNP Nexus

SNPshotrs132630299
SNPdbers132630299
MSV3drs132630299
GWAS Ctlgrs132630299
Merged fromRs28935179
Max Magnitude0
OMIM300414
Desc
Variant0004
Relatedalso
ClinVar
Risk rs132630299(A;A)
Alt rs132630299(A;A)
Reference rs132630299(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.133511781G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000011815.2,