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: rs1558005340
rs1558005340
ATP1A2
0.851 0.280 1 160127638 frameshift variant C/- del
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.700 1.000 1 2020 2020
dbSNP: rs1558008455
rs1558008455
ATP1A2
0.851 0.280 1 160135284 frameshift variant GT/- delins
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.700 1.000 1 2020 2020
dbSNP: rs104894229
rs104894229
HRAS ; LRRC56
0.564 0.600 11 534289 missense variant C/A;G;T snv
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.700 0
dbSNP: rs1166021430
rs1166021430
PIEZO1
0.925 0.200 16 88727652 stop gained C/T snv 1.8E-05 2.8E-05
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.700 0
dbSNP: rs1567659736
rs1567659736
PIEZO1
0.925 0.200 16 88719917 missense variant T/G snv
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.700 0
dbSNP: rs387906692
rs387906692
PRKAR1A ; FAM20A
0.752 0.480 17 68530405 stop gained C/T snv
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.700 0
dbSNP: rs483352822
rs483352822
RIT1
0.776 0.360 1 155904470 stop lost C/A;G;T snv
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.700 0
dbSNP: rs730881014
rs730881014
RIT1
0.776 0.360 1 155904494 stop gained A/C;G;T snv
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.700 0
dbSNP: rs267607048
rs267607048
SHOC2
0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.010 1.000 1 2014 2014
dbSNP: rs369428934
rs369428934
AHCY
0.925 0.240 20 34295469 missense variant G/A snv 2.8E-05 1.4E-05
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.010 1.000 1 2010 2010
dbSNP: rs397507545
rs397507545
PTPN11
0.708 0.560 12 112489083 missense variant G/A;C snv 4.0E-06
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.010 1.000 1 2019 2019
dbSNP: rs773162208
rs773162208
AHCY
0.925 0.240 20 34294119 missense variant T/C snv 4.0E-05 2.8E-05
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.010 1.000 1 2010 2010
dbSNP: rs786205745
rs786205745
CACNA1C
0.807 0.320 12 2504538 missense variant G/A;C snv
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.010 1.000 1 2016 2016
dbSNP: rs79891110
rs79891110
CACNA1C
0.807 0.320 12 2504944 stop gained G/A;T snv
CUI: C0020305
Disease: Hydrops Fetalis
Hydrops Fetalis 		0.010 1.000 1 2016 2016