Rs104894917

From SNPedia
Jump to: navigation, search

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs104894917(A;G)
Make rs104894917(G;G)
ReferenceGRCh38 38.1/141
ChromosomeX
Position134413937
GenePHF6
is asnp
is mentioned by
dbSNPrs104894917
Exacrs104894917
PheGenIrs104894917
nextbiors104894917
hapmaprs104894917
1000 genomesrs104894917
hgdprs104894917
ensemblrs104894917
gopubmedrs104894917
geneviewrs104894917
scholarrs104894917
googlers104894917
pharmgkbrs104894917
gwascentralrs104894917
openSNPrs104894917
23andMers104894917
23andMe allrs104894917
SNP Nexus

SNPshotrs104894917
SNPdbers104894917
MSV3drs104894917
OMIM300414
Desc
Variant0003
Relatedalso
ClinVar
Risk rs104894917(G;G)
Alt rs104894917(G;G)
Reference rs104894917(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.133547967A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000011814.1,