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: rs113993982
rs113993982
PYGL
1 1.000 0.080 14 50912155 splice donor variant C/G;T snv 4.0E-05 0.700 1.000 3 1998 2012
dbSNP: rs113993981
rs113993981
PYGL
1 1.000 0.080 14 50913028 splice donor variant C/A;G;T snv 4.0E-06; 8.0E-06; 2.4E-05 0.700 1.000 1 1998 1998
dbSNP: rs149096315
rs149096315
PYGL
1 1.000 0.080 14 50912195 stop gained G/A snv 6.0E-05 9.8E-05 0.700 1.000 1 2014 2014
dbSNP: rs756205397
rs756205397
PYGL ; ABHD12B
1 1.000 0.080 14 50905469 stop gained G/A;C snv 6.4E-05 0.700 1.000 1 2013 2013
dbSNP: rs113993973
rs113993973
PYGL
1 1.000 0.080 14 50937801 stop gained G/A snv 1.6E-05 4.9E-05 0.700 0
dbSNP: rs113993974
rs113993974
PYGL
1 1.000 0.080 14 50924101 splice acceptor variant C/G snv 0.700 0
dbSNP: rs113993976
rs113993976
PYGL
1 1.000 0.080 14 50916718 missense variant T/C snv 0.700 0
dbSNP: rs113993977
rs113993977
PYGL
1 1.000 0.080 14 50915933 missense variant G/C snv 0.700 0
dbSNP: rs113993978
rs113993978
PYGL
1 1.000 0.080 14 50915869 stop gained G/A snv 8.0E-06 7.0E-06 0.700 0
dbSNP: rs113993979
rs113993979
PYGL
1 1.000 0.080 14 50915373 missense variant C/T snv 3.6E-05 2.8E-05 0.700 0
dbSNP: rs113993980
rs113993980
PYGL
1 1.000 0.080 14 50914748 missense variant G/A snv 2.4E-05 2.1E-05 0.700 0
dbSNP: rs113993983
rs113993983
PYGL
1 1.000 0.080 14 50911804 missense variant T/A snv 0.700 0
dbSNP: rs113993984
rs113993984
PYGL
1 1.000 0.080 14 50910055 missense variant C/T snv 4.0E-05 2.8E-05 0.700 0
dbSNP: rs113993985
rs113993985
PYGL
1 1.000 0.080 14 50910049 missense variant A/T snv 0.700 0
dbSNP: rs113993986
rs113993986
PYGL
1 1.000 0.080 14 50910048 missense variant G/A;C snv 4.0E-06; 4.0E-06 0.700 0
dbSNP: rs113993988
rs113993988
PYGL
1 1.000 0.080 14 50905475 missense variant A/G snv 3.2E-05 2.8E-05 0.700 0
dbSNP: rs1555328280
rs1555328280
PYGL
1 1.000 0.080 14 50937774 frameshift variant TGATCATGGT/- delins 0.700 0
dbSNP: rs35026927
rs35026927
PYGL
2 1.000 0.080 14 50911799 missense variant C/A;G snv 4.0E-06; 3.7E-03 0.700 0
dbSNP: rs786204785
rs786204785
PYGL ; LOC105370492
1 1.000 0.080 14 50944359 frameshift variant -/ATCTGCCGCCGCTTCTCCTG delins 4.0E-06 7.0E-06 0.700 0
dbSNP: rs113488022
rs113488022
BRAF
490 0.351 0.840 7 140753336 missense variant A/C;G;T snv 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs121913377
rs121913377
BRAF
480 0.354 0.840 7 140753335 missense variant CA/AT;TT mnv 0.010 1.000 1 2019 2019
dbSNP: rs77375493
rs77375493
JAK2 ; INSL6
187 0.458 0.760 9 5073770 missense variant G/A;T snv 3.5E-04 0.010 1.000 1 2009 2009