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rs794729668

From SNPedia

Orientationplus
Geno Mag Summary
(A;A) 0 common in clinvar
Make rs794729668(A;G)
Make rs794729668(G;G)
ReferenceGRCh38.p2 38.2/147
Chromosome19
Position49818457
GeneFUZ, MED25
is asnp
is mentioned by
dbSNPrs794729668
ebirs794729668
HLIrs794729668
Exacrs794729668
Varsomers794729668
Maprs794729668
PheGenIrs794729668
hapmaprs794729668
1000 genomesrs794729668
hgdprs794729668
ensemblrs794729668
gopubmedrs794729668
geneviewrs794729668
scholarrs794729668
googlers794729668
pharmgkbrs794729668
gwascentralrs794729668
openSNPrs794729668
23andMers794729668
23andMe allrs794729668
SNP Nexus

SNPshotrs794729668
SNPdbers794729668
MSV3drs794729668
GWAS Ctlgrs794729668
Max Magnitude0
ClinVar
Risk rs794729668(G;G)
Alt rs794729668(G;G)
Reference rs794729668(A;A)
Significance Pathogenic
Disease Basel-Vanagaite-Smirin-Yosef syndrome
Variation info
Gene MED25
CLNDBN Basel-Vanagaite-Smirin-Yosef syndrome
Reversed 0
HGVS NC_000019.9:g.50321714A>G
CLNSRC OMIM Allelic Variant
CLNACC RCV000185605.2,