Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs387906675
rs387906675
0.882 0.080 3 93900830 missense variant T/C snv 4.0E-06
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE
0.800 1.000 1 2010 2010
dbSNP: rs6122
rs6122
0.925 3 93927251 missense variant G/A snv 5.2E-05 2.8E-05
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE
0.700 1.000 4 1995 2012
dbSNP: rs1241365457
rs1241365457
1.000 3 93924247 frameshift variant T/- delins 1.4E-05
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE
0.700 0
dbSNP: rs1559926604
rs1559926604
1.000 3 93874278 stop gained A/T snv
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE
0.700 0
dbSNP: rs759677822
rs759677822
1.000 3 93927408 splice acceptor variant C/G;T snv 8.0E-06
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE
0.700 0
dbSNP: rs863224838
rs863224838
1.000 3 93893121 frameshift variant A/CC delins
THROMBOPHILIA DUE TO PROTEIN S DEFICIENCY, AUTOSOMAL RECESSIVE
0.700 0