Source: CLINVAR

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121918462
rs121918462
0.784 0.286 12 112450398 missense variant C/T snp
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male
0.840 1.000 4 2002 2016
dbSNP: rs121918466
rs121918466
0.784 0.250 12 112450416 missense variant A/G snp
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male
0.830 1.000 2 2001 2015
dbSNP: rs121918459
rs121918459
0.801 0.250 12 112450368 missense variant A/G snp 1.2E-05
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male
0.820 0.500 5 2001 2015
dbSNP: rs121918453
rs121918453
0.756 0.286 12 112450394 missense variant G/A,C,T snp
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male
0.810 1.000 3 2001 2015
dbSNP: rs121918454
rs121918454
0.756 0.286 12 112450395 missense variant C/A,G,T snp
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male
0.810 1.000 2 2001 2015
dbSNP: rs121918460
rs121918460
0.756 0.214 12 112450364 stop lost T/A,G snp 4.0E-06
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male
0.810 1.000 2 2002 2012
dbSNP: rs397507520
rs397507520
0.769 0.250 12 112453279 missense variant G/C,T snp
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male
0.810 1.000 2 2002 2015
dbSNP: rs121918456
rs121918456
0.784 0.179 12 112473023 missense variant A/C,G snp
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male
0.810 1.000 1 2002 2018
dbSNP: rs121918461
rs121918461
0.801 0.250 12 112450362 missense variant A/C,G,T snp
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male
0.810 1.000 1 2001 2009
dbSNP: rs121918463
rs121918463
0.878 0.179 12 112477651 missense variant T/A,C,G snp
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male
0.810 1.000 1 2002 2012
dbSNP: rs397507509
rs397507509
0.878 0.179 12 112450359 missense variant G/C,T snp
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male
0.810 1.000 1 2002 2015
dbSNP: rs28933386
rs28933386
0.784 0.250 12 112477719 missense variant A/G snp 1.2E-05
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male
0.800 9 1993 2015
dbSNP: rs121918455
rs121918455
0.801 0.250 12 112477720 missense variant A/C,G snp
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male
0.800 3 2002 2015
dbSNP: rs121918458
rs121918458
0.878 0.179 12 112489080 missense variant T/A,G snp
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male
0.800 3 2003 2015
dbSNP: rs267606990
rs267606990
0.878 0.179 12 112419116 missense variant C/T snp
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male
0.800 2 2003 2009
dbSNP: rs397507506
rs397507506
0.801 0.250 12 112450354 missense variant C/A,G snp
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male
0.800 2 2003 2015
dbSNP: rs121918467
rs121918467
0.878 0.179 12 112486482 missense variant C/A,T snp 8.0E-06; 1.2E-05
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male
0.800 1 2005 2005
dbSNP: rs376607329
rs376607329
0.878 0.179 12 112472981 missense variant G/A snp 3.2E-05 3.2E-05
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male
0.800 1 2015 2018
dbSNP: rs397507510
rs397507510
0.801 0.250 12 112450361 stop gained G/A,C,T snp
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male
0.800 1 2002 2015
dbSNP: rs397507523
rs397507523
0.878 0.179 12 112472954 missense variant A/G snp
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male
0.800 1 2003 2015
dbSNP: rs397507529
rs397507529
0.846 0.179 12 112473031 missense variant A/G snp
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male
0.800 1 2001 2014
dbSNP: rs397507539
rs397507539
0.878 0.179 12 112489047 missense variant C/A,G,T snp 4.0E-06
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male
0.800 1 2015 2015
dbSNP: rs397507545
rs397507545
0.801 0.250 12 112489083 missense variant G/A,C snp 4.0E-06
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male
0.800 1 2015 2015
dbSNP: rs397507526
rs397507526
0.878 0.179 12 112472972 missense variant T/A,G snp
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male
0.800 0 2018 2018
dbSNP: rs267606920
rs267606920
0.923 0.143 1 114713911 missense variant C/T snp 3.2E-05
CUI: C0041409
Disease: Turner Syndrome, Male
Turner Syndrome, Male
0.710 1.000 1 1993 2013