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: rs869248137
rs869248137
BAG3
4 0.882 0.120 10 119676479 stop gained C/A;T snv 4.0E-06 0.700 1.000 4 2011 2014
dbSNP: rs727505109
rs727505109
BAG3
2 1.000 10 119676617 frameshift variant C/- delins 0.700 1.000 2 2011 2011
dbSNP: rs730880055
rs730880055
BAG3
1 10 119676851 stop gained C/T snv 0.700 0
dbSNP: rs397516881
rs397516881
BAG3
7 0.827 0.120 10 119676917 missense variant G/A snv 0.710 1.000 4 2011 2017
dbSNP: rs727504597
rs727504597
LAMP2
2 1.000 0.160 X 120441803 frameshift variant A/- del 0.700 0
dbSNP: rs727504557
rs727504557
LAMP2
1 X 120441824 frameshift variant T/- delins 0.700 0
dbSNP: rs867410737
rs867410737
ATP5F1D
45 0.708 0.440 19 1242559 missense variant C/T snv 6.7E-06 0.700 1.000 1 2018 2018
dbSNP: rs587777587
rs587777587
RAF1
2 1.000 3 12584539 missense variant G/A;C snv 1.2E-05; 4.0E-06 1.4E-05 0.700 0
dbSNP: rs886040968
rs886040968
SLC12A2
3 1.000 0.040 5 128178664 frameshift variant GTCTGGTGGCT/- delins 0.700 0
dbSNP: rs746503158
rs746503158
MTG1
3 1.000 0.040 10 133420125 missense variant A/G;T snv 8.0E-06; 4.0E-06 0.010 1.000 1 2019 2019
dbSNP: rs63750743
rs63750743
TMEM43
4 0.925 0.080 3 14141665 missense variant C/T snv 0.010 1.000 1 2015 2015
dbSNP: rs867770797
rs867770797
EDNRA
8 0.851 0.200 4 147519875 missense variant G/A snv 0.010 1.000 1 2007 2007
dbSNP: rs199473000
rs199473000
KCNH2
2 1.000 0.120 7 150949031 missense variant C/G;T snv 0.010 1.000 1 2018 2018
dbSNP: rs104894942
rs104894942
DNASE1L1 ; TAZ
2 1.000 0.120 X 154413248 missense variant C/A;T snv 0.010 1.000 1 2017 2017
dbSNP: rs727504327
rs727504327
DNASE1L1 ; TAZ
2 1.000 0.120 X 154413544 missense variant G/A snv 0.700 1.000 2 2001 2011
dbSNP: rs727504431
rs727504431
TAZ
2 1.000 0.120 X 154420212 missense variant G/T snv 0.700 0
dbSNP: rs727504394
rs727504394
TAZ
2 1.000 0.120 X 154420666 frameshift variant TG/- delins 0.700 0
dbSNP: rs387907218
rs387907218
TAZ
2 1.000 0.120 X 154420676 missense variant G/A;C snv 0.710 1.000 5 1973 2018
dbSNP: rs397515750
rs397515750
TAZ
1 X 154420948 stop gained C/T snv 0.700 0
dbSNP: rs1557194525
rs1557194525
TAZ
3 1.000 0.120 X 154420961 frameshift variant C/- del 0.700 0
dbSNP: rs61046466
rs61046466
LMNA
2 1.000 0.120 1 156114934 stop gained C/T snv 0.700 1.000 2 1999 2000
dbSNP: rs58327533
rs58327533
LMNA
4 1.000 0.120 1 156114991 missense variant C/G;T snv 0.010 1.000 1 2009 2009
dbSNP: rs397517895
rs397517895
LMNA
1 1 156115072 missense variant C/G snv 0.700 0
dbSNP: rs59270054
rs59270054
LMNA
6 0.925 0.120 1 156115162 missense variant G/A;C snv 0.720 1.000 6 2005 2010
dbSNP: rs794728602
rs794728602
LMNA
3 1.000 0.040 1 156115168 missense variant G/A snv 0.700 0