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: rs104894119
rs104894119
NR5A1
7 0.807 0.160 9 124500685 missense variant C/T snv 0.800 1.000 9 1999 2017
dbSNP: rs104894120
rs104894120
NR5A1
1 1.000 0.160 9 124482834 missense variant A/T snv 0.800 1.000 9 1999 2017
dbSNP: rs104894124
rs104894124
NR5A1
2 0.925 0.160 9 124503353 missense variant C/T snv 0.800 1.000 9 1999 2017
dbSNP: rs104894125
rs104894125
NR5A1
1 1.000 0.160 9 124503089 missense variant C/T snv 0.800 1.000 9 1999 2017
dbSNP: rs104894126
rs104894126
NR5A1
1 1.000 0.160 9 124500689 missense variant C/T snv 0.800 1.000 9 1999 2017
dbSNP: rs121918654
rs121918654
NR5A1
6 0.882 0.200 9 124503218 missense variant GC/TT mnv 0.800 1.000 9 1999 2017
dbSNP: rs886039769
rs886039769
NR5A1
10 0.807 0.160 9 124500686 missense variant G/A snv 0.800 1.000 8 1999 2017
dbSNP: rs1057517779
rs1057517779
NR5A1
4 0.851 0.160 9 124493083 missense variant G/A snv 0.700 1.000 6 2011 2016
dbSNP: rs1564146922
rs1564146922
NR5A1
2 0.925 0.160 9 124482917 stop gained G/C snv 0.700 1.000 1 2017 2017
dbSNP: rs104894123
rs104894123
NR5A1
1 1.000 0.160 9 124503348 stop gained G/A;T snv 8.1E-06 0.700 0
dbSNP: rs121918655
rs121918655
NR5A1
5 0.851 0.200 9 124493143 missense variant C/T snv 0.700 0
dbSNP: rs121918656
rs121918656
NR5A1
2 0.925 0.160 9 124503393 start lost C/T snv 0.700 0
dbSNP: rs1554721235
rs1554721235
NR5A1
1 1.000 0.160 9 124493082 missense variant C/A;T snv 0.700 0
dbSNP: rs1554721883
rs1554721883
NR5A1
1 1.000 0.160 9 124503358 frameshift variant CACAG/ACAGGTCCAGGTC delins 0.700 0
dbSNP: rs375469069
rs375469069
NR5A1
1 1.000 0.160 9 124500709 missense variant C/T snv 4.1E-06 0.700 0
dbSNP: rs606231205
rs606231205
NR5A1
1 1.000 0.160 9 124503378 frameshift variant G/- del 0.700 0
dbSNP: rs606231206
rs606231206
NR5A1
2 0.925 0.160 9 124500294 frameshift variant G/- del 0.700 0
dbSNP: rs606231207
rs606231207
NR5A1
2 0.925 0.160 9 124500570 frameshift variant C/- del 0.700 0
dbSNP: rs775441984
rs775441984
NR5A1
1 1.000 0.160 9 124503172 stop gained C/A;T snv 0.700 0
dbSNP: rs863224904
rs863224904
NR5A1
1 1.000 0.160 9 124482934 missense variant A/C snv 0.700 0