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rs797045277

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(G;G) 0 common in clinvar
Make rs797045277(A;A)
Make rs797045277(A;G)
ReferenceGRCh38.p2 38.2/146
Chromosome6
Position157198907
GeneARID1B
is asnp
is mentioned by
dbSNPrs797045277
dbSNP (classic)rs797045277
ClinGenrs797045277
ebirs797045277
HLIrs797045277
Exacrs797045277
Gnomadrs797045277
Varsomers797045277
LitVarrs797045277
Maprs797045277
PheGenIrs797045277
Biobankrs797045277
1000 genomesrs797045277
hgdprs797045277
ensemblrs797045277
geneviewrs797045277
scholarrs797045277
googlers797045277
pharmgkbrs797045277
gwascentralrs797045277
openSNPrs797045277
23andMers797045277
SNPshotrs797045277
SNPdbers797045277
MSV3drs797045277
GWAS Ctlgrs797045277
Max Magnitude0
ClinVar
Risk rs797045277(A;A)
Alt rs797045277(A;A)
Reference Rs797045277(G;G)
Significance Pathogenic
Disease Mental retardation Constipation Decreased body weight Failure to thrive Microcephaly Recurrent respiratory infections Seizures Short stature Coffin-Siris syndrome 1
Variation info
Gene ARID1B
CLNDBN Mental retardation, autosomal dominant 12 Constipation Decreased body weight Failure to thrive Microcephaly Recurrent respiratory infections Seizures Short stature Coffin-Siris syndrome 1
Reversed 0
HGVS NC_000006.11:g.157520041G>A
CLNSRC
CLNACC RCV000193966.1, RCV000415059.1, RCV000416951.1,