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: rs1060499745
rs1060499745
CDK10
1 16 89694721 missense variant C/G;T snv 5.1E-06 0.700 0
dbSNP: rs1060499746
rs1060499746
GTF3C1
1 16 27481179 missense variant C/G;T snv 4.0E-06 0.700 0
dbSNP: rs1060499747
rs1060499747
HELZ
1 17 67128716 missense variant T/C snv 0.700 0
dbSNP: rs1060499748
rs1060499748
KLHL15
1 X 23988262 missense variant C/T snv 0.700 0
dbSNP: rs1060499749
rs1060499749
PTPRT
1 20 42352288 splice region variant G/A snv 0.700 0
dbSNP: rs1060499750
rs1060499750
SLITRK5
1 13 87677903 missense variant G/C snv 4.1E-06 7.0E-06 0.700 0
dbSNP: rs1060499751
rs1060499751
SNAPIN
1 1 153659157 missense variant C/T snv 0.700 0
dbSNP: rs1060499752
rs1060499752
TTC1 ; PWWP2A
1 5 160064970 missense variant T/G snv 0.700 0
dbSNP: rs1060499753
rs1060499753
UBQLN1
1 9 83683022 frameshift variant T/- delins 0.700 0
dbSNP: rs1060499754
rs1060499754
ULK2
1 17 19797472 missense variant T/C snv 0.700 0
dbSNP: rs1060499755
rs1060499755
ALDH7A1
1 5 126577158 missense variant T/C snv 0.700 0
dbSNP: rs1060499756
rs1060499756
AP4B1 ; AP4B1-AS1
1 1 113897860 stop gained C/A snv 0.700 0
dbSNP: rs1060499761
rs1060499761
GALC
1 14 87934803 missense variant A/C snv 0.700 0
dbSNP: rs1060499762
rs1060499762
LARP7 ; MIR367 ; MIR302CHG
1 4 112647384 stop gained A/T snv 0.700 0
dbSNP: rs1060499763
rs1060499763
PIGN
2 1.000 18 62140447 missense variant A/C snv 7.0E-06 0.700 0
dbSNP: rs1060499764
rs1060499764
PLA2G6
1 22 38120861 missense variant T/C snv 0.700 0
dbSNP: rs1060499765
rs1060499765
PLCB1
1 20 8737163 missense variant T/A snv 0.700 0
dbSNP: rs1060499766
rs1060499766
POMT2
1 14 77306344 missense variant A/C snv 0.700 0
dbSNP: rs1060499768
rs1060499768
SPG11
2 1.000 0.080 15 44584505 frameshift variant T/- delins 0.700 0
dbSNP: rs1060499769
rs1060499769
SYNE1
1 6 152354858 missense variant C/T snv 1.2E-05 0.700 0
dbSNP: rs1060499770
rs1060499770
ZEB2
1 2 144429823 frameshift variant ACCCTCC/- delins 0.700 0
dbSNP: rs1060499771
rs1060499771
AP4B1 ; AP4B1-AS1
1 1 113900063 missense variant A/G snv 0.700 0
dbSNP: rs1060499772
rs1060499772
DARS1
1 2 135943412 missense variant C/G snv 0.700 0
dbSNP: rs1060499773
rs1060499773
EPB41L1
1 20 36209731 missense variant C/T snv 2.0E-05 0.700 0
dbSNP: rs1060499774
rs1060499774
GRIP1
1 12 66455465 missense variant C/A snv 0.700 0