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: rs1554200371
rs1554200371
TENT5A
2 0.925 0.120 6 81750332 missense variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs66773001
rs66773001
COL1A2
3 0.882 0.120 7 94410251 missense variant G/A;T snv 0.700 1.000 15 1991 2006
dbSNP: rs66883877
rs66883877
COL1A2
3 0.882 0.160 7 94419499 missense variant G/A;C;T snv 4.0E-06 1.4E-05 0.700 1.000 15 1991 2006
dbSNP: rs72658186
rs72658186
COL1A2
1 1.000 0.120 7 94421045 missense variant G/A snv 0.700 1.000 15 1991 2006
dbSNP: rs72658191
rs72658191
COL1A2
1 1.000 0.120 7 94423011 missense variant G/A snv 0.700 1.000 15 1991 2006
dbSNP: rs1114167412
rs1114167412
COL1A2
1 1.000 0.120 7 94410492 missense variant G/C snv 0.700 1.000 1 2015 2015
dbSNP: rs1114167414
rs1114167414
COL1A2
2 0.925 0.120 7 94426433 missense variant G/A snv 0.700 1.000 1 2015 2015
dbSNP: rs1114167415
rs1114167415
COL1A2
2 0.925 0.120 7 94426514 missense variant G/A;C snv 0.700 1.000 1 2015 2015
dbSNP: rs121912911
rs121912911
COL1A2
2 0.925 0.200 7 94426442 missense variant G/C snv 0.710 1.000 1 1996 1996
dbSNP: rs67609234
rs67609234
COL1A2
1 1.000 0.120 7 94425832 missense variant G/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs67729041
rs67729041
COL1A2
1 1.000 0.120 7 94409778 missense variant G/A;T snv 0.700 1.000 1 2015 2015
dbSNP: rs72658125
rs72658125
COL1A2
1 1.000 0.120 7 94413110 missense variant G/A snv 0.010 1.000 1 2003 2003
dbSNP: rs72658150
rs72658150
COL1A2
1 1.000 0.120 7 94417797 missense variant G/T snv 0.700 1.000 1 2015 2015
dbSNP: rs121912905
rs121912905
COL1A2
2 0.925 0.120 7 94408806 missense variant G/T snv 0.700 0
dbSNP: rs121912907
rs121912907
COL1A2
2 0.925 0.120 7 94415263 missense variant G/T snv 0.700 0
dbSNP: rs1554396283
rs1554396283
COL1A2
1 1.000 0.120 7 94410926 missense variant G/T snv 0.700 0
dbSNP: rs1800250
rs1800250
COL1A2
1 1.000 0.120 7 94427801 missense variant A/C snv 0.700 0
dbSNP: rs267606742
rs267606742
COL1A2
1 1.000 0.120 7 94427628 missense variant G/A snv 0.700 0
dbSNP: rs66612022
rs66612022
COL1A2
9 0.763 0.240 7 94409768 missense variant G/A;T snv 0.700 0
dbSNP: rs66619856
rs66619856
COL1A2
3 0.882 0.120 7 94410278 missense variant G/A;T snv 0.700 0
dbSNP: rs67543427
rs67543427
COL1A2
8 0.776 0.240 7 94410457 missense variant G/A;T snv 0.700 0
dbSNP: rs67865220
rs67865220
COL1A2
4 0.851 0.120 7 94409795 missense variant G/A;C;T snv 0.800 0
dbSNP: rs72656402
rs72656402
COL1A2
1 1.000 0.120 7 94410429 missense variant G/T snv 0.700 0
dbSNP: rs72658118
rs72658118
COL1A2
3 0.882 0.120 7 94412095 missense variant G/A snv 0.700 0
dbSNP: rs72658126
rs72658126
COL1A2
1 1.000 0.120 7 94413128 missense variant G/C snv 0.700 0