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: rs1057518817
rs1057518817
NPR2
4 1.000 0.080 9 35805944 frameshift variant GTGGTCCTTTC/- del 0.700 0
dbSNP: rs1057519335
rs1057519335
NPR2
5 0.925 0.040 9 35792968 missense variant T/A snv 0.700 0
dbSNP: rs201037487
rs201037487
FAM98C
7 0.925 0.120 19 38407003 stop gained C/G;T snv 4.0E-06; 1.4E-04; 4.0E-06 4.9E-05 0.700 0
dbSNP: rs754279998
rs754279998
MKS1
10 0.776 0.360 17 58208153 inframe deletion GAG/- delins 2.0E-05 1.4E-05 0.700 0
dbSNP: rs757744435
rs757744435
NPR2
4 1.000 0.080 9 35794009 missense variant A/G;T snv 0.700 0
dbSNP: rs786205567
rs786205567
IFT122
5 0.925 0.120 3 129500070 splice donor variant T/C snv 0.700 0
dbSNP: rs886039795
rs886039795
TMEM256 ; TMEM256-PLSCR3
10 0.851 0.160 17 7403143 frameshift variant CACTCAGAGCCTGGTAGTAAAA/- del 0.700 0
dbSNP: rs886039814
rs886039814
WDR19
13 0.807 0.200 4 39218060 missense variant C/G snv 0.700 0
dbSNP: rs118203918
rs118203918
CILK1
6 0.882 0.160 6 53016099 missense variant C/T snv 4.0E-06 0.010 1.000 1 2018 2018
dbSNP: rs786201032
rs786201032
IFITM5
4 0.925 0.120 11 299372 missense variant G/A snv 0.010 1.000 1 2014 2014