Rs104894918

From SNPedia
Jump to: navigation, search

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894918(A;G)
Make rs104894918(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position134413923
GenePHF6
is asnp
is mentioned by
dbSNPrs104894918
Exacrs104894918
PheGenIrs104894918
nextbiors104894918
hapmaprs104894918
1000 genomesrs104894918
hgdprs104894918
ensemblrs104894918
gopubmedrs104894918
geneviewrs104894918
scholarrs104894918
googlers104894918
pharmgkbrs104894918
gwascentralrs104894918
openSNPrs104894918
23andMers104894918
23andMe allrs104894918
SNP Nexus

SNPshotrs104894918
SNPdbers104894918
MSV3drs104894918
OMIM300414
Desc
Variant0005
Relatedalso
ClinVar
Risk rs104894918(G;G)
Alt rs104894918(G;G)
Reference rs104894918(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.133547953A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000011816.5,