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: rs886041239
rs886041239
SMC3
1.000 0.160 10 110593202 missense variant A/G snv
CUI: C0239479
Disease: Round face
Round face 		0.700 0