Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1562354784
rs1562354784
ARID1B
0.925 0.280 6 157207612 frameshift variant A/- delins
CUI: C0265338
Disease: Coffin-Siris syndrome
Coffin-Siris syndrome 		0.700 0
dbSNP: rs1562354784
rs1562354784
ARID1B
0.925 0.280 6 157207612 frameshift variant A/- delins
CUI: C3281201
Disease: MENTAL RETARDATION, AUTOSOMAL DOMINANT 12
MENTAL RETARDATION, AUTOSOMAL DOMINANT 12 		0.700 0