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rs370088878

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs370088878(A;A)
Make rs370088878(A;G)
ReferenceGRCh38 38.1/141
Chromosome4
Position125450497
GeneFAT4
is asnp
is mentioned by
dbSNPrs370088878
ebirs370088878
HLIrs370088878
Exacrs370088878
Varsomers370088878
Maprs370088878
PheGenIrs370088878
hapmaprs370088878
1000 genomesrs370088878
hgdprs370088878
ensemblrs370088878
gopubmedrs370088878
geneviewrs370088878
scholarrs370088878
googlers370088878
pharmgkbrs370088878
gwascentralrs370088878
openSNPrs370088878
23andMers370088878
23andMe allrs370088878
SNP Nexus

SNPshotrs370088878
SNPdbers370088878
MSV3drs370088878
GWAS Ctlgrs370088878
Max Magnitude0
ClinVar
Risk rs370088878(A,T;A,T)
Alt rs370088878(A,T;A,T)
Reference rs370088878(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.126371652G>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000074491.4,