Source: CLINVAR ×
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: rs1553655558
rs1553655558
TRIP12
43 0.752 0.360 2 229830831 frameshift variant A/- delins 0.700 0
dbSNP: rs1554208945
rs1554208945
ZNF292
26 0.752 0.240 6 87260207 missense variant A/C snv 0.700 0
dbSNP: rs1560092224
rs1560092224
ZBTB20
5 0.925 0.040 3 114339276 missense variant T/A snv 0.700 0
dbSNP: rs886041936
rs886041936
HDAC8
14 0.827 0.120 X 72495210 stop gained G/A snv 0.700 0