Source: ALL
Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs200750564
rs200750564
HOXD13
6 0.827 0.160 2 176094518 stop gained C/T snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs549625604
rs549625604
BBS10
13 0.752 0.280 12 76347713 frameshift variant -/A delins 6.0E-04 0.700 0