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rs398122956

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(TC;TC) 0 common in clinvar
Make rs398122956(-;-)
Make rs398122956(-;TC)
ReferenceGRCh38 38.1/141
Chromosome4
Position125491334
GeneFAT4
is asnp
is mentioned by
dbSNPrs398122956
ebirs398122956
HLIrs398122956
Exacrs398122956
Varsomers398122956
Maprs398122956
PheGenIrs398122956
hapmaprs398122956
1000 genomesrs398122956
hgdprs398122956
ensemblrs398122956
gopubmedrs398122956
geneviewrs398122956
scholarrs398122956
googlers398122956
pharmgkbrs398122956
gwascentralrs398122956
openSNPrs398122956
23andMers398122956
23andMe allrs398122956
SNP Nexus

SNPshotrs398122956
SNPdbers398122956
MSV3drs398122956
GWAS Ctlgrs398122956
Max Magnitude0
ClinVar
Risk rs398122956(;)
Alt rs398122956(;)
Reference rs398122956(TC;TC)
Significance Pathogenic
Disease Van Maldergem syndrome 2
Variation info
Gene FAT4
CLNDBN Van Maldergem syndrome 2
Reversed 0
HGVS NC_000004.11:g.126412489_126412490delTC
CLNSRC OMIM Allelic Variant
CLNACC RCV000074492.5,