Source: ALL
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: rs1555639076
rs1555639076
0.790 0.400 17 67893677 splice donor variant A/- delins
CUI: C0575802
Disease: Small hand
Small hand
0.700 1.000 1 2017 2017