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: rs371802902
rs371802902
POLR1C
1 1.000 6 43519412 missense variant A/G snv 1.6E-05 2.8E-05 0.800 1.000 2 1978 2015
dbSNP: rs373046018
rs373046018
POLR1C
1 1.000 6 43520344 missense variant G/A snv 5.6E-05 8.4E-05 0.800 1.000 2 1978 2015
dbSNP: rs796052127
rs796052127
POLR1C
2 0.925 0.120 6 43519782 missense variant G/A;T snv 8.0E-06; 4.0E-06 0.800 1.000 1 1978 1978
dbSNP: rs1057519455
rs1057519455
POLR1C ; YIPF3
1 1.000 6 43517324 missense variant C/T snv 7.0E-06 0.700 1.000 1 1978 1978
dbSNP: rs141156009
rs141156009
POLR1C
2 0.925 0.120 6 43520961 missense variant C/T snv 4.4E-05 7.7E-05 0.700 1.000 1 1978 1978
dbSNP: rs141471029
rs141471029
POLR1C
1 1.000 6 43519384 missense variant A/G snv 8.5E-04; 4.0E-06 9.8E-04 0.700 1.000 1 1978 1978
dbSNP: rs144054843
rs144054843
POLR1C ; YIPF3
1 1.000 6 43517315 missense variant A/G snv 2.4E-05 5.6E-05 0.700 1.000 1 1978 1978
dbSNP: rs191582628
rs191582628
POLR1C
2 0.925 0.120 6 43520962 missense variant G/A;C snv 2.0E-04 0.700 1.000 1 1978 1978
dbSNP: rs201320592
rs201320592
POLR1C
1 1.000 6 43520078 missense variant G/A;C snv 3.1E-04; 2.8E-05 0.700 1.000 1 2015 2015
dbSNP: rs763593155
rs763593155
POLR1C
1 1.000 6 43520668 stop gained C/A;G;T snv 8.0E-06; 8.0E-06 0.700 1.000 1 1978 1978
dbSNP: rs796052124
rs796052124
POLR1C ; YIPF3
1 1.000 6 43517331 missense variant A/T snv 0.700 1.000 1 1978 1978
dbSNP: rs796052125
rs796052125
POLR1C
1 1.000 6 43520119 missense variant T/C snv 0.700 1.000 1 1978 1978
dbSNP: rs796052126
rs796052126
POLR1C ; YIPF3
1 1.000 6 43517313 missense variant C/T snv 0.700 1.000 1 1978 1978
dbSNP: rs875989826
rs875989826
POLR1C
1 1.000 6 43521006 inframe deletion AAG/- delins 0.700 1.000 1 1978 1978
dbSNP: rs886041661
rs886041661
POLR1C ; YIPF3
1 1.000 6 43517305 splice acceptor variant G/A snv 7.0E-06 0.700 1.000 1 1978 1978
dbSNP: rs1057519456
rs1057519456
POLR1C
1 1.000 6 43520385 frameshift variant G/- delins 0.700 0
dbSNP: rs1305006253
rs1305006253
POLR1C
1 1.000 6 43519737 missense variant T/C snv 4.0E-06 7.0E-06 0.700 0
dbSNP: rs1554131502
rs1554131502
POLR1C
2 0.925 0.120 6 43519820 missense variant T/A snv 0.700 0
dbSNP: rs751006626
rs751006626
POLR1C
1 1.000 6 43520754 missense variant T/C snv 3.2E-05 1.4E-05 0.700 0