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: rs1057519438
rs1057519438
CDK20
4 0.925 0.080 9 87969919 stop gained C/G;T snv 4.9E-06 0.700 0
dbSNP: rs1085308045
rs1085308045
PTEN
8 0.807 0.160 10 87933128 missense variant C/G;T snv 0.700 0
dbSNP: rs121909231
rs121909231
PTEN
32 0.667 0.600 10 87961095 stop gained C/A;T snv 0.700 0
dbSNP: rs1555640521
rs1555640521
LAMA1
15 0.790 0.320 18 6942110 frameshift variant A/- delins 0.700 0
dbSNP: rs1562114190
rs1562114190
PHIP ; IRAK1BP1
21 0.790 0.160 6 78946061 frameshift variant A/- delins 0.700 0
dbSNP: rs387906653
rs387906653
SLC20A2
7 0.882 0.120 8 42428829 stop gained C/A;T snv 0.700 0
dbSNP: rs776300630
rs776300630
HIVEP1
4 0.925 0.080 6 12123884 missense variant G/C;T snv 8.0E-06 0.700 0
dbSNP: rs869312686
rs869312686
HCFC1
5 0.882 0.120 X 153952053 missense variant G/C;T snv 0.700 0
dbSNP: rs869312705
rs869312705
CHD2
3 0.882 0.080 15 92953405 frameshift variant C/- delins 0.700 0
dbSNP: rs1805476
rs1805476
GRIN2B
4 0.851 0.160 12 13561429 3 prime UTR variant G/T snv 0.33 0.010 1.000 1 2012 2012
dbSNP: rs1805477
rs1805477
GRIN2B
3 0.882 0.080 12 13561795 3 prime UTR variant T/A;C;G snv 0.010 1.000 1 2012 2012
dbSNP: rs1805501
rs1805501
GRIN2B
2 0.925 0.040 12 13561125 3 prime UTR variant A/G snv 8.5E-03 0.010 1.000 1 2012 2012
dbSNP: rs1805502
rs1805502
GRIN2B
7 0.790 0.200 12 13561247 3 prime UTR variant A/G snv 0.25 0.010 1.000 1 2012 2012
dbSNP: rs301430
rs301430
SLC1A1 ; SPATA6L
7 0.827 0.080 9 4576680 synonymous variant T/C snv 0.36 0.38 0.010 1.000 1 2010 2010
dbSNP: rs34535804
rs34535804
ESR1
2 0.925 0.040 6 151804096 intron variant G/A snv 0.010 1.000 1 2011 2011
dbSNP: rs6355
rs6355
SLC6A4
2 0.925 0.080 17 30221792 missense variant C/G snv 1.2E-02 1.2E-02 0.010 1.000 1 2011 2011