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: rs267607077
rs267607077
SNRNP200
4 0.882 0.080 2 96287968 missense variant G/A snv 4.0E-06 0.800 1.000 8 2006 2013
dbSNP: rs397514574
rs397514574
SNRNP200
2 0.925 0.080 2 96287959 missense variant C/A;T snv 1.2E-05 0.800 1.000 8 2006 2013
dbSNP: rs397514575
rs397514575
SNRNP200
1 1.000 0.080 2 96290415 missense variant G/C snv 0.800 1.000 8 2006 2013
dbSNP: rs1457428682
rs1457428682
SNRNP200
1 1.000 0.080 2 96293040 missense variant T/C snv 4.0E-06 0.700 1.000 8 2006 2013
dbSNP: rs749546665
rs749546665
SNRNP200
1 1.000 0.080 2 96278699 missense variant C/T snv 4.0E-06 7.0E-06 0.700 1.000 8 2006 2013
dbSNP: rs527236113
rs527236113
SNRNP200
2 0.925 0.080 2 96293090 missense variant C/T snv 0.700 0
dbSNP: rs527236114
rs527236114
SNRNP200
3 0.882 0.080 2 96293085 missense variant C/A snv 0.700 0
dbSNP: rs959069360
rs959069360
SNRNP200
1 1.000 0.080 2 96293091 missense variant G/A snv 4.0E-06 0.700 0