Source: CURATED ×
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: rs869320624
rs869320624
EMC1 ; EMC1-AS1
13 0.776 0.400 1 19220814 frameshift variant AAGG/- delins 1.4E-05 0.700 1.000 2 2016 2017
dbSNP: rs368085185
rs368085185
NBAS
2 1.000 2 15539327 missense variant G/A snv 1.6E-05 2.1E-05 0.700 1.000 1 2015 2015
dbSNP: rs1057518801
rs1057518801
SCN3A
3 0.851 0.080 2 165130238 missense variant A/G snv 0.700 0
dbSNP: rs180177039
rs180177039
BRAF
12 0.851 0.160 7 140778006 missense variant T/A;C;G snv 0.700 1.000 5 2006 2008
dbSNP: rs180177035
rs180177035
BRAF
35 0.752 0.280 7 140801502 missense variant T/C snv 0.700 1.000 2 2006 2006
dbSNP: rs121913348
rs121913348
BRAF
16 0.763 0.480 7 140781617 missense variant C/A;G;T snv 0.700 1.000 1 2008 2008
dbSNP: rs730882249
rs730882249
AP4M1
6 0.882 0.120 7 100105981 stop gained C/T snv 4.0E-06 0.700 0
dbSNP: rs1085307135
rs1085307135
PUF60
5 0.882 0.160 8 143818255 missense variant C/T snv 0.700 0
dbSNP: rs1135402758
rs1135402758
NUP214
5 1.000 9 131199023 intron variant T/- delins 0.700 0
dbSNP: rs267607048
rs267607048
SHOC2
12 0.752 0.560 10 110964362 missense variant A/G snv 7.0E-06 0.700 1.000 2 2009 2012
dbSNP: rs1085308043
rs1085308043
PTEN
12 0.763 0.200 10 87925511 splice acceptor variant A/G;T snv 0.700 0
dbSNP: rs121909219
rs121909219
PTEN
24 0.689 0.400 10 87957915 stop gained C/A;T snv 0.700 0
dbSNP: rs121909224
rs121909224
PTEN
35 0.627 0.560 10 87933147 stop gained C/G;T snv 1.2E-05 0.700 0
dbSNP: rs121909231
rs121909231
PTEN
29 0.667 0.600 10 87961095 stop gained C/A;T snv 0.700 0
dbSNP: rs121913293
rs121913293
PTEN
18 0.732 0.360 10 87952142 missense variant C/A;T snv 0.700 0
dbSNP: rs1554823375
rs1554823375
WDR37
8 0.851 0.160 10 1080454 missense variant C/T snv 0.700 0
dbSNP: rs28933386
rs28933386
PTPN11
14 0.752 0.400 12 112477719 missense variant A/G snv 1.2E-05 7.0E-06 0.700 1.000 2 2001 2006
dbSNP: rs1057518800
rs1057518800
GRIN2B
2 12 13567228 missense variant C/T snv 0.700 0
dbSNP: rs121908869
rs121908869
TSHR ; CEP128
4 0.882 0.160 14 80955802 missense variant G/C snv 4.0E-05 7.0E-06 0.700 0
dbSNP: rs201431517
rs201431517
MTFMT
17 0.827 0.200 15 65021533 missense variant G/A snv 3.5E-04 5.7E-04 0.700 1.000 2 2011 2014
dbSNP: rs1057518777
rs1057518777
UBE3A ; SNHG14
2 15 25339239 splice acceptor variant -/TGAGATGTAGGTA delins 0.700 0
dbSNP: rs864309508
rs864309508
UBE3A ; SNHG14
4 0.925 0.080 15 25356778 frameshift variant CA/- delins 0.700 0
dbSNP: rs886039802
rs886039802
BBS4
6 0.851 0.200 15 72712259 stop gained C/T snv 0.700 0
dbSNP: rs730882240
rs730882240
PIGQ
3 1.000 0.080 16 574693 stop gained C/T snv 2.1E-05 0.700 0
dbSNP: rs730882250
rs730882250
DPH1
5 0.882 0.080 17 2039760 missense variant T/C;G snv 4.0E-06; 4.0E-06 0.700 0