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: rs104886033
rs104886033
DHCR7
10 0.827 0.160 11 71444952 start lost T/C snv 1.2E-05; 4.0E-06 3.5E-05 0.700 0
dbSNP: rs1057518944
rs1057518944
NIPBL
9 0.807 0.280 5 36984990 frameshift variant CT/- delins 0.700 0
dbSNP: rs1554122802
rs1554122802
FBN2
22 0.742 0.160 5 128335170 missense variant C/T snv 0.700 0
dbSNP: rs1555154946
rs1555154946
ARID2 ; LOC105369745
16 0.827 0.120 12 45850644 stop gained C/T snv 0.700 0
dbSNP: rs77078070
rs77078070
KLHL7
26 0.742 0.280 7 23165737 stop gained C/T snv 1.2E-05 1.4E-05 0.700 0
dbSNP: rs876657380
rs876657380
ARID1B
11 0.851 0.360 6 157181155 frameshift variant AA/- delins 0.700 0