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: rs10256972
rs10256972
C7orf50
1 7 999367 intron variant A/C snv 0.62 0.800 1.000 1 2010 2010
dbSNP: rs10445407
rs10445407
SLC38A10
1 17 81288009 intron variant C/A;T snv 0.800 1.000 1 2010 2010
dbSNP: rs10934524
rs10934524 		1 3 96431316 intergenic variant C/G;T snv 0.700 1.000 1 2016 2016
dbSNP: rs10957550
rs10957550
EYA1
1 8 71382353 intron variant G/A;C snv 0.700 1.000 1 2014 2014
dbSNP: rs11574358
rs11574358
WRN
1 8 31147066 missense variant T/G snv 0.700 1.000 1 2015 2015
dbSNP: rs12143832
rs12143832 		1 1 21378943 regulatory region variant T/C snv 0.44 0.700 1.000 1 2019 2019
dbSNP: rs1262476
rs1262476
LOC105377992
2 6 126665850 intron variant A/G;T snv 0.700 1.000 1 2019 2019
dbSNP: rs12949468
rs12949468
TLK2
1 17 62516455 non coding transcript exon variant G/A snv 1.0E-02 0.700 1.000 1 2015 2015
dbSNP: rs13008689
rs13008689
LINC00299
1 2 8390126 intron variant G/A snv 0.35 0.800 1.000 1 2010 2010
dbSNP: rs13053175
rs13053175
SSTR3
1 22 37217269 upstream gene variant C/T snv 0.33 0.800 1.000 1 2010 2010
dbSNP: rs13118159
rs13118159
UVSSA
1 4 1371339 intron variant T/C snv 0.55 0.800 1.000 1 2010 2010
dbSNP: rs1327533
rs1327533
SVEP1
1 9 110368883 intron variant T/G snv 8.7E-02 0.800 1.000 1 2010 2010
dbSNP: rs1356888
rs1356888
NRXN1
1 2 50288880 intron variant T/A;C snv 0.800 1.000 1 2010 2010
dbSNP: rs138762279
rs138762279 		1 5 174283195 intergenic variant T/- del 0.34 0.700 1.000 1 2019 2019
dbSNP: rs1416280
rs1416280 		1 6 102438768 intergenic variant C/G snv 0.35 0.700 1.000 1 2015 2015
dbSNP: rs1425609
rs1425609 		1 3 162964207 intergenic variant G/A snv 0.37 0.700 1.000 1 2011 2011
dbSNP: rs145672791
rs145672791 		1 21 13377702 intergenic variant G/A snv 8.1E-03 0.700 1.000 1 2016 2016
dbSNP: rs1487614
rs1487614 		1 4 42267463 non coding transcript exon variant T/C snv 0.65 0.700 1.000 1 2016 2016
dbSNP: rs16975963
rs16975963
LOC100631378
1 19 37834896 intron variant C/G snv 0.25 0.800 1.000 1 2010 2010
dbSNP: rs2024714
rs2024714
CDH4
1 20 61637438 intron variant C/T snv 0.60 0.800 1.000 1 2010 2010
dbSNP: rs2031577
rs2031577 		1 10 4007811 intergenic variant A/G snv 0.53 0.800 1.000 1 2010 2010
dbSNP: rs2229188
rs2229188
CYP51A1 ; CYP51A1-AS1
1 7 92134309 missense variant A/G snv 4.3E-06 0.700 1.000 1 2015 2015
dbSNP: rs2273
rs2273
SDAD1
1 4 75968235 intron variant C/T snv 0.33 0.800 1.000 1 2010 2010
dbSNP: rs2282032
rs2282032
NRDE2
1 14 90292547 non coding transcript exon variant G/T snv 0.18 0.800 1.000 1 2010 2010
dbSNP: rs2292664
rs2292664
RIMBP2
1 12 130437119 missense variant G/A;C snv 9.2E-06; 5.3E-04 0.700 1.000 1 2015 2015