Source: CURATED ×
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: rs1057519438
rs1057519438
CDK20
4 0.925 0.080 9 87969919 stop gained C/G;T snv 4.9E-06 0.700 0
dbSNP: rs1085308045
rs1085308045
PTEN
8 0.807 0.160 10 87933128 missense variant C/G;T snv 0.700 0
dbSNP: rs121909231
rs121909231
PTEN
29 0.667 0.600 10 87961095 stop gained C/A;T snv 0.700 0
dbSNP: rs1555640521
rs1555640521
LAMA1
15 0.790 0.320 18 6942110 frameshift variant A/- delins 0.700 0
dbSNP: rs1562114190
rs1562114190
PHIP ; IRAK1BP1
21 0.790 0.160 6 78946061 frameshift variant A/- delins 0.700 0
dbSNP: rs387906653
rs387906653
SLC20A2
7 0.882 0.120 8 42428829 stop gained C/A;T snv 0.700 0
dbSNP: rs776300630
rs776300630
HIVEP1
4 0.925 0.080 6 12123884 missense variant G/C;T snv 8.0E-06 0.700 0
dbSNP: rs869312686
rs869312686
HCFC1
5 0.882 0.120 X 153952053 missense variant G/C;T snv 0.700 0
dbSNP: rs869312705
rs869312705
CHD2
3 0.882 0.080 15 92953405 frameshift variant C/- delins 0.700 0