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: rs121912605
rs121912605
PLCE1
1 1.000 0.080 10 94270547 missense variant C/T snv 4.0E-06 0.800 1.000 1 2006 2006
dbSNP: rs121912601
rs121912601
PLCE1
1 1.000 0.080 10 94132444 stop gained C/T snv 1.2E-05 0.700 0
dbSNP: rs121912602
rs121912602
PLCE1
1 1.000 0.080 10 94254256 stop gained C/G;T snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs121912604
rs121912604
PLCE1
1 1.000 0.080 10 94304583 stop gained C/T snv 0.700 0
dbSNP: rs267606954
rs267606954
PLCE1
3 1.000 0.080 10 94032007 stop gained C/T snv 2.4E-05 0.700 0
dbSNP: rs267606955
rs267606955
PLCE1
1 1.000 0.080 10 94259072 stop gained C/A;G;T snv 4.0E-06; 2.0E-05 0.700 0
dbSNP: rs876657369
rs876657369
PLCE1
1 1.000 0.080 10 94032192 frameshift variant G/- del 0.700 0
dbSNP: rs876657370
rs876657370
PLCE1
1 1.000 0.080 10 94262522 frameshift variant G/- delins 0.700 0
dbSNP: rs267606953
rs267606953
PLCE1 ; NOC3L
1 1.000 0.080 10 94322006 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs121912603
rs121912603
PLCE1 ; PLCE1-AS1
1 1.000 0.080 10 94283840 stop gained C/T snv 0.700 0