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: rs780336679
rs780336679
LRP4
0.925 0.080 11 46900261 splice donor variant C/T snv 2.4E-05 1.4E-05
CUI: C4023728
Disease: 1-5 finger syndactyly
1-5 finger syndactyly 		0.700 1.000 1 2017 2017