Gene: SKI ×
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: rs397514589
rs397514589
SKI
1 1.000 0.160 1 2228870 missense variant C/A;G snv 0.800 1.000 4 2012 2015
dbSNP: rs397514590
rs397514590
SKI
1 1.000 0.160 1 2228869 missense variant C/T snv 0.800 1.000 4 2012 2015
dbSNP: rs869312901
rs869312901
SKI
1 1.000 0.160 1 2229115 missense variant G/C snv 0.800 0
dbSNP: rs387907306
rs387907306
SKI
4 0.925 0.160 1 2228866 missense variant G/A;T snv 0.700 1.000 3 2012 2015
dbSNP: rs1553189986
rs1553189986
SKI
1 1.000 0.160 1 2229402 inframe deletion TCAGCGAGCGCAGCGTCCGCGTGTACCACGAGTGCTTCGGCAAGTGTAAGGGGCTGCTGGTGCCCGAGCTCTACAGCAGCCCGAGCGCCGCCTGCATCCAGTGCCTGGACTGCCGCCTCATGTACCCGCCGCACAAGTTCGTGGTGCACTCGCACAAGGCCCTGGAGAACCGGACCTGCCACTGGGGCTTCGACTCGGCCAACTGGCGGGCCTACATCCTGCTGAGCCAGGATTACACGGGCAAGGAGGAGCAGGCGC/- delins 0.700 1.000 2 2002 2003
dbSNP: rs1557806222
rs1557806222
SKI
1 1.000 0.160 1 2228834 missense variant A/C snv 0.700 0
dbSNP: rs387907303
rs387907303
SKI
1 1.000 0.160 1 2229113 missense variant G/A snv 0.700 0
dbSNP: rs387907304
rs387907304
SKI
1 1.000 0.160 1 2228860 missense variant C/G;T snv 0.700 0
dbSNP: rs387907305
rs387907305
SKI
1 1.000 0.160 1 2228867 missense variant G/A;T snv 0.700 0
dbSNP: rs398122889
rs398122889
SKI
1 1.000 0.160 1 2229046 inframe deletion GACCGCTCC/- delins 0.700 0
dbSNP: rs398122914
rs398122914
SKI
1 1.000 0.160 1 2229046 inframe deletion TCCGACCGCTCC/- del 0.700 0
dbSNP: rs863223722
rs863223722
SKI
2 1.000 0.160 1 2229305 missense variant C/A;T snv 0.700 0
dbSNP: rs869025525
rs869025525
SKI
1 1.000 0.160 1 2229118 missense variant G/A snv 0.700 0
dbSNP: rs869312902
rs869312902
SKI
1 1.000 0.160 1 2228828 missense variant T/G snv 0.700 0