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: rs281864783
rs281864783
PRKAR1A
4 0.851 0.120 17 68522864 stop gained C/T snv 0.710 1.000 1 2007 2007
dbSNP: rs727503379
rs727503379
PRKAR1A
1 1.000 0.120 17 68525826 frameshift variant G/- delins 0.700 1.000 1 2000 2000
dbSNP: rs1555813158
rs1555813158
PRKAR1A
1 1.000 0.120 17 68522754 splice donor variant AGGAGGCAAAACAGATTCAGAATCTGCAGAAAGCAGGCACTCGTACAGACTCAAGGGAGGATGAGATTTCTCCTCCTCCACCCAACCCAGTGGTTAAAGGTAGGAGGCGACGAGGTGCTATCAGCGCTGAGGTCTACACGGAGGAAGATGCGGCATCCTATGTTAGAAAGG/- delins 0.700 0
dbSNP: rs281864779
rs281864779
PRKAR1A
2 0.925 0.120 17 68515400 start lost A/G snv 0.700 0
dbSNP: rs281864780
rs281864780
PRKAR1A
1 1.000 0.120 17 68515481 stop gained C/T snv 0.700 0
dbSNP: rs281864781
rs281864781
PRKAR1A
1 1.000 0.120 17 68515508 stop gained C/T snv 0.700 0
dbSNP: rs281864782
rs281864782
PRKAR1A
1 1.000 0.120 17 68515523 stop gained C/G;T snv 8.0E-06 0.700 0
dbSNP: rs281864784
rs281864784
PRKAR1A
1 1.000 0.120 17 68525886 stop gained C/T snv 0.700 0
dbSNP: rs281864785
rs281864785
PRKAR1A
2 0.925 0.120 17 68528886 stop gained GG/CT mnv 0.700 0
dbSNP: rs281864786
rs281864786
PRKAR1A
3 0.925 0.120 17 68525842 missense variant C/A snv 0.700 0
dbSNP: rs281864787
rs281864787
PRKAR1A
1 1.000 0.120 17 68515480 frameshift variant GCGCTGCTCAA/- delins 0.700 0
dbSNP: rs281864788
rs281864788
PRKAR1A
1 1.000 0.120 17 68515497 frameshift variant CTATT/- delins 0.700 0
dbSNP: rs281864789
rs281864789
PRKAR1A
1 1.000 0.120 17 68515538 frameshift variant A/- del 0.700 0
dbSNP: rs281864790
rs281864790
PRKAR1A
2 0.925 0.120 17 68524064 frameshift variant TG/- delins 0.700 0
dbSNP: rs281864791
rs281864791
PRKAR1A
2 0.925 0.120 17 68525820 frameshift variant TTAT/- delins 0.700 0
dbSNP: rs281864792
rs281864792
PRKAR1A
1 1.000 0.120 17 68525770 frameshift variant AA/CAC delins 0.700 0
dbSNP: rs281864793
rs281864793
PRKAR1A
1 1.000 0.120 17 68525896 frameshift variant -/T delins 0.700 0
dbSNP: rs281864794
rs281864794
PRKAR1A
1 1.000 0.120 17 68527841 frameshift variant -/AA delins 0.700 0
dbSNP: rs281864795
rs281864795
PRKAR1A
1 1.000 0.120 17 68528946 frameshift variant -/A ins 0.700 0
dbSNP: rs281864796
rs281864796
PRKAR1A
1 1.000 0.120 17 68522754 splice acceptor variant A/G snv 0.700 0
dbSNP: rs281864797
rs281864797
PRKAR1A
1 1.000 0.120 17 68522927 splice donor variant G/C snv 0.700 0
dbSNP: rs281864798
rs281864798
PRKAR1A
2 0.925 0.120 17 68525913 splice donor variant G/T snv 0.700 0
dbSNP: rs281864799
rs281864799
PRKAR1A
2 0.925 0.120 17 68528994 splice region variant A/G snv 0.700 0
dbSNP: rs281864800
rs281864800
PRKAR1A
1 1.000 0.120 17 68525745 splice acceptor variant CACTTTAG/- delins 0.700 0
dbSNP: rs281864801
rs281864801
PRKAR1A
2 0.925 0.160 17 68527824 splice acceptor variant TTTTTA/- delins 0.700 0