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: rs1554843829
rs1554843829
KAT6B ; SNORD172
1.000 0.360 10 75022074 frameshift variant A/- delins
CUI: C1863557
Disease: Young Simpson syndrome
Young Simpson syndrome 		0.700 0
dbSNP: rs199470468
rs199470468
KAT6B ; SNORD172
1.000 0.360 10 75021280 frameshift variant A/- delins
CUI: C1863557
Disease: Young Simpson syndrome
Young Simpson syndrome 		0.700 0
dbSNP: rs751215527
rs751215527
KAT6B ; SNORD172
1.000 0.360 10 75022115 stop gained G/C;T snv 1.6E-05
CUI: C1863557
Disease: Young Simpson syndrome
Young Simpson syndrome 		0.700 0
dbSNP: rs747376305
rs747376305
KCNQ2 ; LOC105372721
1.000 0.040 20 63433841 stop gained G/A;C snv 4.0E-06 1.4E-05
CUI: C4552072
Disease: X-linked infantile spasms
X-linked infantile spasms 		0.700 0
dbSNP: rs121434307
rs121434307
RB1 ; LPAR6
0.925 0.040 13 48411862 missense variant T/A;C snv 3.2E-05; 8.0E-06
CUI: C1848435
Disease: WOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS
WOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS 		0.700 0
dbSNP: rs1553407942
rs1553407942
EIF2AK3 ; LOC101928371
1.000 0.200 2 88574725 stop gained G/A snv
CUI: C0432217
Disease: Wolcott-Rallison syndrome
Wolcott-Rallison syndrome 		0.700 0
dbSNP: rs869025179
rs869025179
EIF2AK3 ; LOC101928371
1.000 0.200 2 88570873 splice donor variant C/T snv
CUI: C0432217
Disease: Wolcott-Rallison syndrome
Wolcott-Rallison syndrome 		0.700 0
dbSNP: rs769194347
rs769194347
ADAMTSL4 ; ADAMTSL4-AS2
0.925 0.240 1 150556630 missense variant G/A snv 1.2E-05
CUI: C0175702
Disease: Williams Syndrome
Williams Syndrome 		0.010 1.000 1 2014 2014
dbSNP: rs4657616
rs4657616
IFI16 ; PYDC5
1 159001296 intron variant A/G snv 0.31
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.800 1.000 3 2011 2019
dbSNP: rs1146932
rs1146932
EDNRB-AS1 ; LOC112268121
13 77829552 intron variant T/C snv 0.83
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs1245035
rs1245035
RASSF3 ; LOC107984521
12 64582269 intron variant C/A snv 0.59
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs12686780
rs12686780
IPPK ; CENPP ; LOC100128361
9 92620015 3 prime UTR variant C/T snv 0.19
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs1352887
rs1352887
P2RY12 ; MED12L
3 151355567 intron variant C/A;G snv
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs1883932
rs1883932
PLCB1 ; LOC105372521
20 8628941 intron variant A/T snv 0.58
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2016 2016
dbSNP: rs210946
rs210946
MYB ; LOC105378011
6 135212146 intron variant T/C;G snv 0.54
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs28886684
rs28886684
FNTB ; MAX ; CHURC1-FNTB
14 65056577 intron variant T/C snv 0.24
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs3795503
rs3795503
KIAA1614 ; LOC107985231
1 180936558 synonymous variant C/T snv 0.31 0.27
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs6055955
rs6055955
PLCB1 ; LOC105372521
20 8623534 intron variant C/T snv 0.51
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs62454415
rs62454415
HOXA3 ; HOXA5 ; HOXA-AS3
7 27143911 intron variant C/G snv 0.18
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs680729
rs680729
PCA3 ; PRUNE2
9 76707804 synonymous variant A/G snv 0.80 0.76
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs7522260
rs7522260
AKNAD1 ; LOC105378891
1 108823748 intron variant C/T snv 0.56
CUI: C0023508
Disease: White Blood Cell Count procedure
White Blood Cell Count procedure 		0.700 1.000 1 2019 2019
dbSNP: rs20541
rs20541
IL13 ; TH2LCRR
0.585 0.720 5 132660272 missense variant A/G snv 0.72 0.77
CUI: C0043144
Disease: Wheezing
Wheezing 		0.020 1.000 2 2009 2013
dbSNP: rs1800925
rs1800925
IL13 ; TH2LCRR
0.627 0.560 5 132657117 non coding transcript exon variant C/G;T snv
CUI: C0043144
Disease: Wheezing
Wheezing 		0.010 1.000 1 2013 2013
dbSNP: rs848
rs848
IL13 ; TH2LCRR
0.807 0.240 5 132660808 3 prime UTR variant A/C snv 0.67
CUI: C0043144
Disease: Wheezing
Wheezing 		0.010 1.000 1 2013 2013
dbSNP: rs769194347
rs769194347
ADAMTSL4 ; ADAMTSL4-AS2
0.925 0.240 1 150556630 missense variant G/A snv 1.2E-05
CUI: C0265313
Disease: Weill-Marchesani syndrome
Weill-Marchesani syndrome 		0.010 1.000 1 2014 2014