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: rs1555727493
rs1555727493
KMT2B
46 0.742 0.480 19 35718020 frameshift variant -/GGCGGGCGGCGGC delins 0.700 0
dbSNP: rs281875196
rs281875196
SMARCA2
9 0.851 0.320 9 2115927 missense variant G/A;C snv 0.700 0
dbSNP: rs770374710
rs770374710
MAGEL2
87 0.611 0.560 15 23645747 frameshift variant G/-;GG delins 0.700 0
dbSNP: rs866294686
rs866294686
TRIM8 ; LOC105378460
43 0.683 0.480 10 102657073 stop gained C/A;T snv 0.700 0
dbSNP: rs121912526
rs121912526
LHCGR ; GTF2A1L ; STON1-GTF2A1L
4 0.882 0.040 2 48688604 missense variant A/G snv 0.010 1.000 1 1996 1996
dbSNP: rs121912532
rs121912532
LHCGR ; GTF2A1L ; STON1-GTF2A1L
12 0.776 0.280 2 48688065 missense variant C/A;G;T snv 1.2E-05 0.010 1.000 1 2017 2017
dbSNP: rs121912534
rs121912534
LHCGR ; GTF2A1L ; STON1-GTF2A1L
3 0.882 0.040 2 48688094 missense variant G/A;T snv 0.010 1.000 1 1998 1998
dbSNP: rs121912540
rs121912540
LHCGR ; GTF2A1L ; STON1-GTF2A1L
3 0.882 0.040 2 48688106 missense variant T/C snv 0.010 1.000 1 2006 2006
dbSNP: rs121913495
rs121913495
GNAS
28 0.672 0.400 20 58909366 missense variant G/A;T snv 0.010 1.000 1 2006 2006
dbSNP: rs12441827
rs12441827
MKRN3
1 1.000 0.040 15 23564574 upstream gene variant T/C snv 0.22 0.010 1.000 1 2018 2018
dbSNP: rs141138948
rs141138948
EXOSC3
9 0.807 0.120 9 37783993 missense variant T/C;G snv 4.1E-04 0.010 1.000 1 2014 2014
dbSNP: rs2090409
rs2090409
LINC01505
2 1.000 0.040 9 106204807 intron variant C/A;T snv 0.010 1.000 1 2011 2011
dbSNP: rs281875322
rs281875322
SMAD4
6 0.807 0.480 18 51078306 missense variant A/G snv 4.0E-06 0.010 1.000 1 2020 2020
dbSNP: rs314280
rs314280
LIN28B
3 0.925 0.040 6 104952962 intron variant A/G snv 0.46 0.010 1.000 1 2011 2011
dbSNP: rs375705600
rs375705600
MKRN3
2 0.925 0.040 15 23566816 missense variant G/A snv 2.0E-05 2.8E-05 0.010 1.000 1 2015 2015
dbSNP: rs6471
rs6471
CYP21A2
24 0.683 0.360 6 32040110 missense variant G/A;C;T snv 1.2E-05; 5.3E-03 0.010 1.000 1 2011 2011
dbSNP: rs6576457
rs6576457
MKRN3
2 1.000 0.040 15 23564729 upstream gene variant G/A snv 0.27 0.010 1.000 1 2018 2018
dbSNP: rs746394859
rs746394859
CD44
3 0.882 0.120 11 35229182 missense variant A/G snv 4.0E-06 0.010 1.000 1 2013 2013
dbSNP: rs768638173
rs768638173
NF1
6 0.882 0.200 17 31226474 stop gained C/T snv 4.0E-06 1.4E-05 0.010 1.000 1 2015 2015
dbSNP: rs768713502
rs768713502
AMH ; MIR4321
5 0.882 0.120 19 2250752 missense variant G/A;T snv 7.6E-06; 1.5E-05 0.010 1.000 1 2006 2006