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: rs9496567
rs9496567
LOC105377911
2 6 100154877 intergenic variant G/A snv 0.24 0.700 1.000 1 2019 2019
dbSNP: rs670401
rs670401
ARHGAP42
3 11 100701679 intron variant A/G snv 0.76 0.700 1.000 1 2018 2018
dbSNP: rs633185
rs633185
ARHGAP42
10 0.925 0.080 11 100722807 intron variant G/A;C snv 0.700 1.000 1 2018 2018
dbSNP: rs604723
rs604723
ARHGAP42
9 1.000 0.040 11 100739815 intron variant T/C snv 0.78 0.700 1.000 1 2018 2018
dbSNP: rs2062331
rs2062331
MSRA
2 8 10122482 intron variant A/G snv 0.51 0.700 1.000 1 2018 2018
dbSNP: rs11993089
rs11993089
MSRA
1 8 10152442 intron variant G/T snv 0.45 0.700 1.000 1 2018 2018
dbSNP: rs35225200
rs35225200 		5 1.000 0.040 4 102225731 intergenic variant A/C snv 5.4E-02 0.700 1.000 1 2018 2018
dbSNP: rs13107325
rs13107325
SLC39A8
34 0.776 0.520 4 102267552 missense variant C/A;T snv 4.0E-06; 4.5E-02 0.700 1.000 1 2018 2018
dbSNP: rs13135092
rs13135092
SLC39A8
4 4 102276925 intron variant A/G snv 5.1E-02 0.700 1.000 1 2019 2019
dbSNP: rs34919878
rs34919878
MSRA
2 8 10241994 intron variant G/A snv 0.29 0.700 1.000 1 2018 2018
dbSNP: rs7909591
rs7909591
AS3MT ; BORCS7-ASMT ; LOC107984265
2 10 102899261 non coding transcript exon variant G/T snv 0.30 0.700 1.000 1 2018 2018
dbSNP: rs11786677
rs11786677
MSRA
2 8 10406750 intron variant A/G snv 0.46 0.700 1.000 1 2018 2018
dbSNP: rs45490496
rs45490496 		2 14 104806341 downstream gene variant A/T snv 0.45 0.700 1.000 1 2019 2019
dbSNP: rs2575876
rs2575876
ABCA1
7 9 104903458 intron variant G/A snv 0.24 0.700 1.000 1 2019 2019
dbSNP: rs4841409
rs4841409
RP1L1
3 8 10658864 intron variant A/G snv 0.61 0.700 1.000 1 2018 2018
dbSNP: rs2392929
rs2392929 		4 7 106773623 upstream gene variant T/A;C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs13225723
rs13225723 		2 7 106776021 splice region variant G/A snv 0.19 0.700 1.000 1 2018 2018
dbSNP: rs17035646
rs17035646
CASZ1
6 1 10736490 intron variant G/A;T snv 0.700 1.000 1 2018 2018
dbSNP: rs35295665
rs35295665
CASZ1
2 1 10737371 intron variant -/C delins 0.700 1.000 1 2018 2018
dbSNP: rs34071855
rs34071855
CASZ1
4 1 10738432 intron variant C/G;T snv 0.700 1.000 1 2018 2018
dbSNP: rs13276026
rs13276026
PINX1 ; LOC102723313
3 8 10752445 intron variant G/A snv 0.56 0.700 1.000 1 2018 2018
dbSNP: rs139077481
rs139077481 		1 11 107579224 intergenic variant T/C snv 3.2E-03 0.700 1.000 1 2018 2018
dbSNP: rs4551304
rs4551304
PINX1
3 8 10807559 intron variant A/G snv 0.65 0.700 1.000 1 2018 2018
dbSNP: rs7814757
rs7814757
PINX1
2 8 10817678 intron variant T/C;G snv 0.700 1.000 1 2018 2018
dbSNP: rs7528419
rs7528419
CELSR2
13 0.851 0.080 1 109274570 3 prime UTR variant A/G snv 0.23 0.700 1.000 1 2019 2019