Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137852720
rs137852720
0.925 0.160 9 137779634 splice acceptor variant G/C snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 8 2005 2018
dbSNP: rs749848324
rs749848324
1.000 9 137816034 stop gained C/G;T snv 4.0E-06 7.0E-06
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 8 2005 2018