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rs398122954

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs398122954(A;A)
Make rs398122954(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position125490015
GeneFAT4
is asnp
is mentioned by
dbSNPrs398122954
ebirs398122954
HLIrs398122954
Exacrs398122954
Varsomers398122954
Maprs398122954
PheGenIrs398122954
hapmaprs398122954
1000 genomesrs398122954
hgdprs398122954
ensemblrs398122954
gopubmedrs398122954
geneviewrs398122954
scholarrs398122954
googlers398122954
pharmgkbrs398122954
gwascentralrs398122954
openSNPrs398122954
23andMers398122954
23andMe allrs398122954
SNP Nexus

SNPshotrs398122954
SNPdbers398122954
MSV3drs398122954
GWAS Ctlgrs398122954
Max Magnitude0
ClinVar
Risk rs398122954(A;A)
Alt rs398122954(A;A)
Reference rs398122954(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.126411170G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000074489.5,