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rs398122953

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398122953(G;T)
Make rs398122953(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position125479743
GeneFAT4
is asnp
is mentioned by
dbSNPrs398122953
ebirs398122953
HLIrs398122953
Exacrs398122953
Varsomers398122953
Maprs398122953
PheGenIrs398122953
hapmaprs398122953
1000 genomesrs398122953
hgdprs398122953
ensemblrs398122953
gopubmedrs398122953
geneviewrs398122953
scholarrs398122953
googlers398122953
pharmgkbrs398122953
gwascentralrs398122953
openSNPrs398122953
23andMers398122953
23andMe allrs398122953
SNP Nexus

SNPshotrs398122953
SNPdbers398122953
MSV3drs398122953
GWAS Ctlgrs398122953
Max Magnitude0
ClinVar
Risk rs398122953(T;T)
Alt rs398122953(T;T)
Reference rs398122953(G;G)
Significance Pathogenic
Disease Van Maldergem syndrome 2
Variation info
Gene FAT4
CLNDBN Van Maldergem syndrome 2
Reversed 0
HGVS NC_000004.11:g.126400898G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000074488.4,