Source: ALL

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: rs1555743003
rs1555743003
ASXL3
0.701 0.520 18 33740444 splice donor variant G/A snv
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		0.700 1.000 1 2016 2016
dbSNP: rs1060505029
rs1060505029
TAF13
0.882 0.240 1 109066220 missense variant A/T snv
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		0.700 0
dbSNP: rs1060505030
rs1060505030
TAF13
0.882 0.240 1 109075001 missense variant A/G;T snv
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		0.700 0
dbSNP: rs121909628
rs121909628
FGFR1
0.925 0.160 8 38414892 stop gained G/A;C snv
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		0.700 0
dbSNP: rs121909636
rs121909636
FGFR1
0.827 0.240 8 38414569 stop gained G/A snv
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		0.700 0
dbSNP: rs121918459
rs121918459
PTPN11
0.662 0.440 12 112450368 missense variant A/G snv 1.2E-05 7.0E-06
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		0.700 0
dbSNP: rs138952094
rs138952094
SEMA3A
7 83961537 missense variant G/A snv 1.2E-03 7.6E-04
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		0.700 0
dbSNP: rs143862988
rs143862988
TAC3
12 57012866 missense variant T/C;G snv 1.6E-04; 8.0E-06
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		0.700 0
dbSNP: rs184758350
rs184758350
IL17RD
0.925 3 57110230 missense variant T/G snv 8.9E-04 6.6E-04
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		0.700 0
dbSNP: rs200088377
rs200088377
IL17RD
3 57106133 missense variant G/A snv 1.6E-04 1.3E-04
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		0.700 0
dbSNP: rs201195175
rs201195175
TACR3
4 103719165 missense variant C/A;G snv 4.0E-06
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		0.700 0
dbSNP: rs572115942
rs572115942
PHKG2
0.925 0.240 16 30756714 missense variant G/A snv 8.0E-05 7.7E-05
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		0.700 0
dbSNP: rs727505366
rs727505366
IL17RD
3 57106004 stop gained C/T snv
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		0.700 0
dbSNP: rs727505367
rs727505367
GNRHR ; UBA6-AS1
1.000 0.040 4 67753986 missense variant A/C snv 1.4E-05
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		0.700 0
dbSNP: rs727505368
rs727505368 		12 37253847 intergenic variant G/C;T snv
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		0.700 0
dbSNP: rs727505369
rs727505369
FGFR1
0.925 0.160 8 38424624 missense variant T/C snv
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		0.700 0
dbSNP: rs727505370
rs727505370
FGFR1
1.000 0.040 8 38414840 missense variant A/G snv
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		0.700 0
dbSNP: rs727505371
rs727505371
FGFR1
1.000 0.040 8 38421840 frameshift variant AG/- delins 4.0E-06
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		0.700 0
dbSNP: rs727505372
rs727505372
TAC3
0.925 0.040 12 57013359 missense variant G/T snv
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		0.700 0
dbSNP: rs727505373
rs727505373
FGFR1
0.925 0.160 8 38429744 missense variant T/C snv
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		0.700 0
dbSNP: rs727505374
rs727505374
ANOS1
1.000 0.040 X 8539744 stop gained G/A snv
CUI: C0034012
Disease: Delayed Puberty
Delayed Puberty 		0.700 0