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: rs121964856
rs121964856
7 0.801 0.107 1 201365297 missense variant C/A,T snp 0.800 21 1994 2017
dbSNP: rs397516456
rs397516456
5 0.821 0.071 1 201365298 missense variant G/A snp 4.0E-06 3.2E-05 0.800 12 1994 2017
dbSNP: rs397516463
rs397516463
4 0.846 0.071 1 201364369 missense variant G/A snp 0.800 8 2004 2017
dbSNP: rs121964858
rs121964858
2 0.923 0.107 1 201365244 missense variant A/C,G,T snp 0.800 4 1995 2003
dbSNP: rs121964855
rs121964855
4 0.846 0.071 1 201365638 missense variant A/T snp 4.0E-06 0.800 3 1994 2017
dbSNP: rs397516457
rs397516457
3 0.878 0.071 1 201365291 missense variant C/A,T snp 0.800 2 1999 2017
dbSNP: rs727504246
rs727504246
3 0.878 0.071 1 201363330 missense variant G/A snp 0.800 2 2000 2017
dbSNP: rs863225119
rs863225119
3 1.000 0.071 1 201359632 missense variant T/A snp 0.800 1 2003 2003
dbSNP: rs74315379
rs74315379
7 0.821 0.071 1 201364336 missense variant G/A,T snp 1.2E-04 0.700 11 2001 2017
dbSNP: rs397516470
rs397516470
4 0.846 0.071 1 201363377 inframe deletion TCTC/T in-del 0.700 10 1995 2017
dbSNP: rs397516471
rs397516471
4 0.878 0.071 1 201363348 missense variant C/T snp 0.700 5 2011 2017
dbSNP: rs727504247
rs727504247
4 0.846 0.071 1 201359217 stop gained C/T snp 4.1E-06 0.700 5 2003 2017
dbSNP: rs730881116
rs730881116
4 0.846 0.071 1 201359216 stop gained C/T snp 0.700 5 2003 2017
dbSNP: rs121964857
rs121964857
2 0.923 0.071 1 201359245 missense variant G/A snp 3.6E-04 3.2E-04 0.700 3 1995 2012
dbSNP: rs397516484
rs397516484
1 1.000 0.071 1 201359244 missense variant C/G,T snp 1.2E-05 3.2E-05 0.700 2 1994 2004
dbSNP: rs111377893
rs111377893
2 0.923 0.071 1 201359622 splice donor variant C/A,G,T snp 0.700 1 2017 2017
dbSNP: rs200754249
rs200754249
2 0.923 0.071 1 201368212 missense variant G/A,T snp 4.5E-04; 4.0E-06 3.5E-04 0.700 1 2012 2012
dbSNP: rs367785431
rs367785431
1 1.000 0.071 1 201359221 missense variant G/A snp 2.5E-05 0.700 1 2003 2003
dbSNP: rs45466197
rs45466197
1 1.000 0.071 1 201361327 missense variant C/A snp 2.2E-04 6.4E-05 0.700 1 1995 1995
dbSNP: rs45578238
rs45578238
4 0.878 0.071 1 201361971 inframe deletion ATCT/A in-del 0.700 1 2017 2017
dbSNP: rs727503513
rs727503513
2 0.923 0.071 1 201365292 missense variant G/A snp 0.700 1 2017 2017
dbSNP: rs727504245
rs727504245
2 0.923 0.071 1 201365261 missense variant G/A snp 1.6E-05 0.700 1 1997 1997
dbSNP: rs74315380
rs74315380
4 0.878 0.071 1 201364366 missense variant G/A,C snp 0.700 1 2017 2017
dbSNP: rs886039053
rs886039053
1 1.000 0.071 1 201365666 missense variant A/G snp 0.700 1 2003 2003
dbSNP: rs863225120
rs863225120
1 1.000 0.071 1 201361970 missense variant A/G snp 0.700 0