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: rs528302390
rs528302390
PKD1L1
9 0.776 0.120 7 47831214 splice donor variant AC/- delins 3.7E-04 5.0E-04 0.700 1.000 1 2016 2016
dbSNP: rs886037834
rs886037834
PKD1L1
6 0.827 0.160 7 47846960 missense variant C/G snv 7.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs1554581757
rs1554581757
CHD7
4 0.882 0.120 8 60742945 stop gained C/T snv 0.700 0
dbSNP: rs148311482
rs148311482
GJA5 ; LOC102723321
2 0.925 0.120 1 147758446 missense variant G/A snv 2.1E-04 1.9E-04 0.010 1.000 1 2013 2013
dbSNP: rs532587037
rs532587037
CCNH ; RASA1
2 0.925 0.120 5 87353227 missense variant C/T snv 1.0E-04 2.1E-05 0.010 1.000 1 2013 2013