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rs869312696

From SNPedia

Orientationplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs869312696(A;A)
Make rs869312696(A;C)
ReferenceGRCh38.p2 38.2/147
Chromosome18
Position33739086
GeneASXL3
is asnp
is mentioned by
dbSNPrs869312696
ebirs869312696
HLIrs869312696
Exacrs869312696
Varsomers869312696
Maprs869312696
PheGenIrs869312696
hapmaprs869312696
1000 genomesrs869312696
hgdprs869312696
ensemblrs869312696
gopubmedrs869312696
geneviewrs869312696
scholarrs869312696
googlers869312696
pharmgkbrs869312696
gwascentralrs869312696
openSNPrs869312696
23andMers869312696
23andMe allrs869312696
SNP Nexus

SNPshotrs869312696
SNPdbers869312696
MSV3drs869312696
GWAS Ctlgrs869312696
Max Magnitude0
ClinVar
Risk rs869312696(A;A)
Alt rs869312696(A;A)
Reference rs869312696(C;C)
Significance Pathogenic
Disease Bainbridge-Ropers syndrome
Variation info
Gene ASXL3
CLNDBN Bainbridge-Ropers syndrome
Reversed 0
HGVS NC_000018.9:g.31319050C>A
CLNSRC
CLNACC RCV000209910.1,