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: rs1958078
rs1958078
SMOC1
4 14 69888141 intron variant A/C;G snv 0.700 1.000 2 2016 2019
dbSNP: rs2022003
rs2022003
SPTA1
5 1 158617176 intron variant A/T snv 0.28 0.700 1.000 2 2017 2019
dbSNP: rs2157770
rs2157770
BRD3 ; LOC100130548
3 9 134056342 intron variant A/G snv 0.33 0.700 1.000 2 2017 2019
dbSNP: rs2302783
rs2302783
PRKAR1A ; ARSG ; WIPI1
2 17 68450932 intron variant T/C snv 0.68 0.68 0.700 1.000 2 2017 2019
dbSNP: rs2857078
rs2857078
SLC4A1
5 17 44252803 intron variant A/C snv 0.62 0.700 1.000 2 2016 2019
dbSNP: rs3169166
rs3169166
DNAJA4
3 15 78270761 intron variant A/C snv 0.42 0.700 1.000 2 2017 2019
dbSNP: rs34156328
rs34156328
MARCHF8 ; LOC105378286
2 10 45507812 intron variant AAA/-;AA;AAAA;AAAAA delins 0.700 1.000 2 2016 2017
dbSNP: rs34540877
rs34540877
ANKRD27
2 19 32599365 intron variant T/C snv 2.0E-02 0.700 1.000 2 2016 2017
dbSNP: rs35979828
rs35979828
NFE2
9 12 54292096 intron variant C/T snv 5.0E-02 0.700 1.000 2 2016 2017
dbSNP: rs360408
rs360408
PLD1
2 3 171620779 intron variant T/A snv 0.56 0.700 1.000 2 2016 2017
dbSNP: rs3768321
rs3768321
PABPC4 ; PABPC4-AS1
5 1.000 0.080 1 39570256 intron variant G/T snv 0.14 0.700 1.000 2 2016 2019
dbSNP: rs429216
rs429216
TMC6 ; TMC8
2 17 78130123 intron variant T/G snv 0.15 0.700 1.000 2 2017 2019
dbSNP: rs4316067
rs4316067
NT5C3A
2 7 33041902 intron variant A/C;G snv 0.34 0.700 1.000 2 2017 2019
dbSNP: rs4737010
rs4737010
ANK1
6 8 41772929 intron variant G/A snv 0.32 0.700 1.000 2 2017 2019
dbSNP: rs55730005
rs55730005
UNC119B
2 12 120719733 intron variant C/A;G snv 0.700 1.000 2 2017 2019
dbSNP: rs61777615
rs61777615
RHCE
2 1 25405596 intron variant G/A snv 0.20 0.700 1.000 2 2016 2017
dbSNP: rs62130978
rs62130978
CHAF1A
2 19 4429010 intron variant C/G;T snv 0.19 0.700 1.000 2 2016 2017
dbSNP: rs6602909
rs6602909
GAS6
3 13 113849020 intron variant T/C snv 0.44 0.700 1.000 2 2016 2017
dbSNP: rs67806247
rs67806247
TMEM259
2 19 1014539 intron variant TGATGGGGCG/-;TGATGGGGCGTGATGGGGCG delins 0.700 1.000 2 2016 2017
dbSNP: rs7115329
rs7115329
CLMP
2 11 123078837 intron variant C/G;T snv 0.700 1.000 2 2016 2017
dbSNP: rs76533333
rs76533333
ATP11A
2 13 112698602 intron variant A/G snv 8.1E-02 0.700 1.000 2 2016 2017
dbSNP: rs79755767
rs79755767
COPZ1
2 12 54304624 intron variant G/A;T snv 0.700 1.000 2 2017 2019
dbSNP: rs9349205
rs9349205
CCND3
7 6 41957421 intron variant G/A;C snv 0.700 1.000 2 2017 2019
dbSNP: rs9801017
rs9801017
TFR2
3 7 100638579 intron variant G/A snv 0.65 0.700 1.000 2 2016 2017
dbSNP: rs10065892
rs10065892
AP3B1
2 5 78267439 intron variant G/A snv 0.27 0.700 1.000 1 2019 2019