rs797045277, ARID1B

N. diseases: 5
Source: CLINVAR ×
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Agenesis of corpus callosum
CUI: C0175754
Disease: Agenesis of corpus callosum
33 0.882 0.280 6 157198907 splice region variant G/A snv 0.700 0
Colpocephaly
CUI: C0431384
Disease: Colpocephaly
2 0.882 0.280 6 157198907 splice region variant G/A snv 0.700 0
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 0.882 0.280 6 157198907 splice region variant G/A snv 0.700 0
Enlarged cisterna magna
CUI: C1853377
Disease: Enlarged cisterna magna
4 0.882 0.280 6 157198907 splice region variant G/A snv 0.700 0
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
61 0.882 0.280 6 157198907 splice region variant G/A snv 0.700 0