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: rs122445101
rs122445101
ATRX
0.882 0.240 X 77558781 missense variant C/T snv
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome 		0.800 1.000 6 1996 2005
dbSNP: rs122445109
rs122445109
ATRX
0.925 0.200 X 77684030 missense variant A/G snv
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome 		0.700 1.000 6 1996 2005
dbSNP: rs122445110
rs122445110
ATRX
0.882 0.200 X 77589902 missense variant A/G snv
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome 		0.700 1.000 6 1996 2005
dbSNP: rs122445111
rs122445111
ATRX
0.925 0.200 X 77684942 missense variant C/T snv
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome 		0.700 1.000 6 1996 2005
dbSNP: rs122445112
rs122445112
ATRX
0.925 0.200 X 77523290 missense variant T/C snv 5.5E-06
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome 		0.700 1.000 6 1996 2005
dbSNP: rs122445108
rs122445108
ATRX
0.807 0.320 X 77717155 stop gained G/A snv
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome 		0.700 1.000 1 2000 2000
dbSNP: rs1057517948
rs1057517948
ATRX
1.000 0.200 X 77574322 missense variant C/A;T snv
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome 		0.700 0
dbSNP: rs122445103
rs122445103
ATRX
0.925 0.240 X 77688844 missense variant G/C snv
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome 		0.700 0
dbSNP: rs122445105
rs122445105
ATRX
0.882 0.240 X 77684520 missense variant G/A snv
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome 		0.700 0
dbSNP: rs398123425
rs398123425
ATRX
0.776 0.320 X 77688876 missense variant T/C snv
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome 		0.700 0
dbSNP: rs104894230
rs104894230
HRAS ; LRRC56
0.564 0.600 11 534288 missense variant C/A;G;T snv
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome 		0.010 1.000 1 2019 2019
dbSNP: rs121913237
rs121913237
NRAS
0.611 0.560 1 114716126 missense variant C/A;G;T snv 8.0E-06
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome 		0.010 1.000 1 2019 2019
dbSNP: rs121913529
rs121913529
KRAS
0.492 0.680 12 25245350 missense variant C/A;G;T snv 4.0E-06
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome 		0.010 1.000 1 2019 2019
dbSNP: rs727503094
rs727503094
HRAS ; LRRC56
0.633 0.440 11 534287 missense variant GC/AG;AT;TA;TT mnv
CUI: C0796003
Disease: Juberg-Marsidi syndrome
Juberg-Marsidi syndrome 		0.010 1.000 1 2019 2019