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: rs387907300
rs387907300
POMGNT2
3 1.000 3 43080959 missense variant C/T snv 1.2E-05 0.800 0
dbSNP: rs1553618354
rs1553618354
POMGNT2
1 1.000 3 43080687 stop gained G/A snv 0.700 0
dbSNP: rs374042455
rs374042455
POMGNT2
2 0.925 3 43080674 missense variant G/A snv 1.6E-05 0.700 0
dbSNP: rs387907299
rs387907299
POMGNT2
1 1.000 3 43080099 stop gained G/A;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs587777798
rs587777798
CRPPA ; CRPPA-AS1
2 0.925 7 16258393 inframe insertion ACA/-;ACAACA delins 4.2E-05 0.700 0