Rs104894919

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Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894919(A;G)
Make rs104894919(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position134415055
GenePHF6
is asnp
is mentioned by
dbSNPrs104894919
Exacrs104894919
PheGenIrs104894919
nextbiors104894919
hapmaprs104894919
1000 genomesrs104894919
hgdprs104894919
ensemblrs104894919
gopubmedrs104894919
geneviewrs104894919
scholarrs104894919
googlers104894919
pharmgkbrs104894919
gwascentralrs104894919
openSNPrs104894919
23andMers104894919
23andMe allrs104894919
SNP Nexus

SNPshotrs104894919
SNPdbers104894919
MSV3drs104894919
OMIM300414
Desc
Variant0007
Relatedalso
ClinVar
Risk rs104894919(G;G)
Alt rs104894919(G;G)
Reference rs104894919(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.133549085A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000011818.4,