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rs398122955

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398122955(A;A)
Make rs398122955(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position125434349
GeneFAT4
is asnp
is mentioned by
dbSNPrs398122955
dbSNP (classic)rs398122955
ClinGenrs398122955
ebirs398122955
HLIrs398122955
Exacrs398122955
Gnomadrs398122955
Varsomers398122955
LitVarrs398122955
Maprs398122955
PheGenIrs398122955
Biobankrs398122955
1000 genomesrs398122955
hgdprs398122955
ensemblrs398122955
geneviewrs398122955
scholarrs398122955
googlers398122955
pharmgkbrs398122955
gwascentralrs398122955
openSNPrs398122955
23andMers398122955
SNPshotrs398122955
SNPdbers398122955
MSV3drs398122955
GWAS Ctlgrs398122955
Max Magnitude0
ClinVar
Risk rs398122955(A;A)
Alt rs398122955(A;A)
Reference Rs398122955(G;G)
Significance Pathogenic
Disease Van Maldergem syndrome 2 Hennekam lymphangiectasia-lymphedema syndrome 2
Variation info
Gene FAT4
CLNDBN Van Maldergem syndrome 2 Hennekam lymphangiectasia-lymphedema syndrome 2
Reversed 0
HGVS NC_000004.11:g.126355504G>A
CLNSRC OMIM Allelic Variant UniProtKB (protein)
CLNACC RCV000074490.7, RCV000144157.5,