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rs587777724

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(;) 0 common in clinvar
Make rs587777724(-;-)
Make rs587777724(-;TGGAAC)
Make rs587777724(TGGAAC;TGGAAC)
ReferenceGRCh38 38.1/142
Chromosome4
Position125434272
GeneFAT4
is asnp
is mentioned by
dbSNPrs587777724
ebirs587777724
HLIrs587777724
Exacrs587777724
Varsomers587777724
Maprs587777724
PheGenIrs587777724
hapmaprs587777724
1000 genomesrs587777724
hgdprs587777724
ensemblrs587777724
gopubmedrs587777724
geneviewrs587777724
scholarrs587777724
googlers587777724
pharmgkbrs587777724
gwascentralrs587777724
openSNPrs587777724
23andMers587777724
23andMe allrs587777724
SNP Nexus

SNPshotrs587777724
SNPdbers587777724
MSV3drs587777724
GWAS Ctlgrs587777724
Max Magnitude0
ClinVar
Risk rs587777724(ACTGGA;ACTGGA)
Alt rs587777724(ACTGGA;ACTGGA)
Reference rs587777724(;)
Significance Pathogenic
Disease Hennekam lymphangiectasia-lymphedema syndrome 2
Variation info
Gene FAT4
CLNDBN Hennekam lymphangiectasia-lymphedema syndrome 2
Reversed 0
HGVS NC_000004.11:g.126355422_126355427dupTGGAAC
CLNSRC OMIM Allelic Variant
CLNACC RCV000144158.3,