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: rs886040958
rs886040958
ARID1B
1.000 0.280 6 157207395 frameshift variant CC/- delins
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies 		0.700 0