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: rs387906309
rs387906309
HEXA
0.925 0.160 15 72346579 frameshift variant -/GATA delins 4.0E-06; 8.0E-04 4.5E-04
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.700 1.000 3 2012 2014
dbSNP: rs796051877
rs796051877
GAA
0.807 0.320 17 80110055 splice region variant G/A snv 4.0E-06
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.700 1.000 1 2015 2015
dbSNP: rs1057516674
rs1057516674
G6PC
0.882 0.160 17 42901026 frameshift variant GT/- del
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.700 0
dbSNP: rs1057519466
rs1057519466
HEXA
0.925 0.160 15 72346307 frameshift variant G/- del
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.700 0
dbSNP: rs1060499680
rs1060499680
GNPTAB
0.882 0.200 12 101768036 splice donor variant C/A;T snv 4.0E-06
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.700 0
dbSNP: rs1060499681
rs1060499681
GNPTAB
0.882 0.200 12 101764303 frameshift variant C/- del
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.700 0
dbSNP: rs1060499685
rs1060499685
GNPTAB
0.882 0.160 12 101764547 frameshift variant AA/- delins
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.700 0
dbSNP: rs111033806
rs111033806
GALT
0.882 0.160 9 34649523 stop gained G/A;T snv
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.700 0
dbSNP: rs113993959
rs113993959
CFTR
0.677 0.280 7 117587778 stop gained G/A;T snv 8.0E-06; 3.4E-04
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.700 0
dbSNP: rs121918460
rs121918460
PTPN11
0.708 0.400 12 112450364 missense variant T/A;G snv 4.0E-06
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.700 0
dbSNP: rs1276519904
rs1276519904
H3-3A
0.645 0.520 1 226071445 missense variant A/G snv
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.700 0
dbSNP: rs1553284997
rs1553284997
RPL5 ; DIPK1A
0.790 0.400 1 92833544 splice acceptor variant G/C snv
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.700 0
dbSNP: rs1554174425
rs1554174425
RHAG
0.925 0.160 6 49618113 missense variant A/C snv
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.700 0
dbSNP: rs1555269154
rs1555269154
GNPTAB
0.851 0.280 12 101761307 frameshift variant -/CTTTGTGA delins
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.700 0
dbSNP: rs1555271865
rs1555271865
GNPTAB
0.925 0.160 12 101786204 frameshift variant -/T delins
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.700 0
dbSNP: rs1555600214
rs1555600214
UNC13D
0.925 0.040 17 75830577 splice donor variant C/T snv
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.700 0
dbSNP: rs1555601863
rs1555601863
UNC13D
0.925 0.040 17 75836430 splice acceptor variant C/T snv
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.700 0
dbSNP: rs1567608853
rs1567608853
CYBA
0.925 0.160 16 88646212 non coding transcript exon variant G/C snv
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.700 0
dbSNP: rs1567705064
rs1567705064
G6PC
1.000 0.080 17 42907570 frameshift variant ATGGTCACATCTA/- del
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.700 0
dbSNP: rs1569547876
rs1569547876
MAGT1
1.000 X 77841252 stop gained G/A snv
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.700 0
dbSNP: rs281864996
rs281864996
GNPTAB
0.807 0.280 12 101764363 frameshift variant CTTTT/-;CTTTTCTTTT delins 2.8E-05 7.0E-06
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		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: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.700 0
dbSNP: rs751953529
rs751953529
GNPTAB
0.882 0.200 12 101786012 missense variant C/T snv 4.0E-06
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.700 0
dbSNP: rs768849283
rs768849283
PRF1
0.882 0.040 10 70600517 missense variant C/G snv 6.8E-05
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.700 0
dbSNP: rs878853315
rs878853315
GBA
0.925 0.160 1 155236292 missense variant G/C snv
CUI: C0019209
Disease: Hepatomegaly
Hepatomegaly 		0.700 0