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rs748363079

From SNPedia

Orientationplus
Geno Mag Summary
(T;T) 0 common in clinvar
Make rs748363079(C;C)
Make rs748363079(C;T)
ReferenceGRCh38.p2 38.2/147
Chromosome6
Position157198835
GeneARID1B
is asnp
is mentioned by
dbSNPrs748363079
ebirs748363079
HLIrs748363079
Exacrs748363079
Varsomers748363079
Maprs748363079
PheGenIrs748363079
hapmaprs748363079
1000 genomesrs748363079
hgdprs748363079
ensemblrs748363079
gopubmedrs748363079
geneviewrs748363079
scholarrs748363079
googlers748363079
pharmgkbrs748363079
gwascentralrs748363079
openSNPrs748363079
23andMers748363079
23andMe allrs748363079
SNP Nexus

SNPshotrs748363079
SNPdbers748363079
MSV3drs748363079
GWAS Ctlgrs748363079
Max Magnitude0
ClinVar
Risk rs748363079(C;C)
Alt rs748363079(C;C)
Reference rs748363079(T;T)
Significance Pathogenic
Disease Coffin-Siris syndrome
Variation info
Gene ARID1B
CLNDBN Coffin-Siris syndrome
Reversed 0
HGVS NC_000006.11:g.157519969T>A
CLNSRC OMIM Allelic Variant
CLNACC RCV000024211.3,