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: rs796052005
rs796052005
MMUT
1 1.000 0.080 6 49459138 missense variant T/C snv 0.700 0
dbSNP: rs796052007
rs796052007
MMUT
1 1.000 0.080 6 49456149 missense variant A/G snv 4.0E-06 0.700 0
dbSNP: rs866933356
rs866933356
MMUT
1 1.000 0.080 6 49451641 missense variant T/C snv 4.0E-06 0.700 0
dbSNP: rs869320653
rs869320653
MMUT
1 1.000 0.080 6 49457791 missense variant T/C snv 0.700 0
dbSNP: rs941483851
rs941483851
MMUT
1 1.000 0.080 6 49458034 missense variant G/A;C snv 4.1E-06 0.700 0
dbSNP: rs982110849
rs982110849
MMUT
1 1.000 0.080 6 49440286 missense variant C/A snv 0.700 0
dbSNP: rs1164271240
rs1164271240
MMUT
1 1.000 0.080 6 49435560 missense variant G/A;C snv 4.0E-06 0.700 1.000 1 2012 2012
dbSNP: rs1238694184
rs1238694184
MMUT
1 1.000 0.080 6 49441907 stop gained G/A snv 2.1E-05 0.700 1.000 1 2006 2006
dbSNP: rs1405705785
rs1405705785
MMUT
1 1.000 0.080 6 49456239 splice acceptor variant T/A;C snv 0.700 1.000 1 2016 2016
dbSNP: rs148285323
rs148285323
MMUT
1 1.000 0.080 6 49441871 stop gained C/A;G snv 3.2E-05 1.3E-04 0.700 1.000 1 2015 2015
dbSNP: rs1554158325
rs1554158325
MMUT
1 1.000 0.080 6 49435474 frameshift variant T/- del 0.700 1.000 1 2015 2015
dbSNP: rs1554158377
rs1554158377
MMUT
1 1.000 0.080 6 49435617 frameshift variant AG/- delins 0.700 1.000 1 2016 2016
dbSNP: rs1554158754
rs1554158754
MMUT
1 1.000 0.080 6 49440216 frameshift variant G/- delins 0.700 1.000 1 2006 2006
dbSNP: rs1554158970
rs1554158970
MMUT
1 1.000 0.080 6 49441900 splice acceptor variant -/CATTCGATCATTCGCTTTATGTTCACCAAATACCTTTTTCAGGGCATCTGTGATTTCTCCCACTGTACATC delins 0.700 1.000 1 2016 2016
dbSNP: rs1554159950
rs1554159950
MMUT
1 1.000 0.080 6 49451671 frameshift variant GC/- del 0.700 1.000 1 2017 2017
dbSNP: rs1554160743
rs1554160743
MMUT
1 1.000 0.080 6 49458050 stop gained G/A snv 0.700 1.000 1 2012 2012
dbSNP: rs747777227
rs747777227
MMUT
1 1.000 0.080 6 49457751 stop gained -/T delins 1.6E-05; 8.0E-06 1.4E-05 0.700 1.000 1 2016 2016
dbSNP: rs752898811
rs752898811
MMUT
2 1.000 0.080 6 49453645 frameshift variant -/T delins 8.0E-06; 1.6E-05 0.700 1.000 1 2006 2006
dbSNP: rs753564352
rs753564352
MMUT
1 1.000 0.080 6 49444652 missense variant C/T snv 2.8E-05 7.0E-06 0.700 1.000 1 2015 2015
dbSNP: rs758577372
rs758577372
MMUT
1 1.000 0.080 6 49453691 missense variant C/T snv 4.0E-06 0.700 1.000 1 2016 2016
dbSNP: rs761525156
rs761525156
MMUT
2 1.000 0.080 6 49447699 stop gained G/A snv 4.0E-06 2.1E-05 0.700 1.000 1 2006 2006
dbSNP: rs761773115
rs761773115
MMUT
1 1.000 0.080 6 49459448 stop gained G/A;C snv 4.0E-06 0.700 1.000 1 2005 2005
dbSNP: rs771542321
rs771542321
MMUT
1 1.000 0.080 6 49451465 splice donor variant C/- delins 4.0E-06 2.1E-05 0.700 1.000 1 2006 2006
dbSNP: rs780068818
rs780068818
MMUT
1 1.000 0.080 6 49457990 stop gained G/A snv 2.4E-05 7.0E-06 0.700 1.000 1 2006 2006
dbSNP: rs780283588
rs780283588
MMUT
2 1.000 0.080 6 49457714 frameshift variant -/AA delins 1.2E-05; 4.0E-06 1.4E-05 0.700 1.000 1 2012 2012