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rs398122957

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs398122957(C;T)
Make rs398122957(T;T)
ReferenceGRCh38 38.1/141
Chromosome4
Position125452471
GeneFAT4
is asnp
is mentioned by
dbSNPrs398122957
ebirs398122957
HLIrs398122957
Exacrs398122957
Varsomers398122957
Maprs398122957
PheGenIrs398122957
hapmaprs398122957
1000 genomesrs398122957
hgdprs398122957
ensemblrs398122957
gopubmedrs398122957
geneviewrs398122957
scholarrs398122957
googlers398122957
pharmgkbrs398122957
gwascentralrs398122957
openSNPrs398122957
23andMers398122957
23andMe allrs398122957
SNP Nexus

SNPshotrs398122957
SNPdbers398122957
MSV3drs398122957
GWAS Ctlgrs398122957
Max Magnitude0
ClinVar
Risk rs398122957(T;T)
Alt rs398122957(T;T)
Reference rs398122957(C;C)
Significance Pathogenic
Disease Van Maldergem syndrome 2
Variation info
Gene FAT4
CLNDBN Van Maldergem syndrome 2
Reversed 0
HGVS NC_000004.11:g.126373626C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000074493.5,