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rs189694750

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs189694750(A;A)
Make rs189694750(A;G)
ReferenceGRCh38.p7 38.3/150
ChromosomeX
Position50635637
GeneSHROOM4
is asnp
is mentioned by
dbSNPrs189694750
dbSNP (old)rs189694750
ClinGenrs189694750
ebirs189694750
HLIrs189694750
Exacrs189694750
Gnomadrs189694750
Varsomers189694750
Maprs189694750
PheGenIrs189694750
Biobankrs189694750
1000 genomesrs189694750
hgdprs189694750
ensemblrs189694750
gopubmedrs189694750
geneviewrs189694750
scholarrs189694750
googlers189694750
pharmgkbrs189694750
gwascentralrs189694750
openSNPrs189694750
23andMers189694750
23andMe allrs189694750
SNPshotrs189694750
SNPdbers189694750
MSV3drs189694750
GWAS Ctlgrs189694750
Max Magnitude0
ClinVar
Risk rs189694750(A;A)
Alt rs189694750(A;A)
Reference Rs189694750(G;G)
Significance Pathogenic
Disease Stocco dos Santos syndrome
Variation info
Gene SHROOM4
CLNDBN Stocco dos Santos syndrome
Reversed 0
HGVS NC_000023.10:g.50378637G>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000477701.1,