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: rs1554210073
rs1554210073
PHIP
21 0.752 0.320 6 79042844 frameshift variant GT/A delins 0.700 0
dbSNP: rs587784347
rs587784347
PLA2G6
38 0.742 0.280 22 38113561 missense variant G/A snv 8.0E-06 0.700 0
dbSNP: rs752746786
rs752746786
GNB1
30 0.742 0.560 1 1806503 missense variant A/C;G;T snv 4.0E-06 0.700 0
dbSNP: rs864309483
rs864309483
ADCY5
9 0.851 0.080 3 123352464 missense variant G/A snv 0.700 0