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: rs1041480
rs1041480
HBS1L
1 6 135051938 intron variant G/T snv 0.46 0.700 1.000 1 2012 2012
dbSNP: rs10419408
rs10419408
HOOK2 ; RTBDN ; LOC105372281
2 19 12831936 intron variant A/G snv 0.33 0.700 1.000 1 2012 2012
dbSNP: rs1042391
rs1042391
GMPR
1 6 16290530 missense variant T/A;C snv 0.54 0.700 1.000 1 2012 2012
dbSNP: rs10425
rs10425
H1-2
4 0.925 0.120 6 26056321 synonymous variant A/G snv 0.68 0.73 0.700 1.000 1 2012 2012
dbSNP: rs10426080
rs10426080
MAST1 ; HOOK2
2 19 12847036 intron variant A/G snv 0.40 0.700 1.000 1 2012 2012
dbSNP: rs1042831
rs1042831
CNTN2
1 1 205074122 synonymous variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs10431385
rs10431385
MLEC
1 12 120691079 intron variant T/C snv 0.41 0.700 1.000 1 2012 2012
dbSNP: rs10431765
rs10431765
RAB11A ; DENND4A
1 15 65752213 intron variant G/A snv 0.57 0.700 1.000 1 2012 2012
dbSNP: rs10431806
rs10431806
RAB11A ; DENND4A
1 15 65750317 intron variant C/T snv 0.19 0.700 1.000 1 2012 2012
dbSNP: rs10434439
rs10434439 		1 4 54536454 intergenic variant G/A;T snv 6.4E-02 0.700 1.000 1 2012 2012
dbSNP: rs10434845
rs10434845
CARMIL1
2 6 25582529 intron variant C/G snv 0.38 0.700 1.000 1 2012 2012
dbSNP: rs10438824
rs10438824
SPECC1
1 17 20155197 intron variant C/T snv 0.24 0.700 1.000 1 2012 2012
dbSNP: rs10443899
rs10443899
SPTA1
1 1 158646824 intron variant T/A snv 0.29 0.700 1.000 1 2012 2012
dbSNP: rs10443907
rs10443907
SPTA1
1 1 158644877 intron variant C/T snv 0.25 0.700 1.000 1 2012 2012
dbSNP: rs10444856
rs10444856
FBXO22 ; NRG4
3 0.925 0.120 15 75940081 3 prime UTR variant T/C snv 0.45 0.700 1.000 1 2012 2012
dbSNP: rs10445335
rs10445335
MAPT-AS1
1 17 45857530 intron variant T/A snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs10445337
rs10445337
MAPT
3 0.925 0.120 17 45990034 missense variant T/C snv 0.15 0.15 0.700 1.000 1 2012 2012
dbSNP: rs10445338
rs10445338
MAPT
2 1.000 0.040 17 45990316 intron variant G/A snv 0.15 0.700 1.000 1 2012 2012
dbSNP: rs10445364
rs10445364
MAPT-AS1
2 1.000 0.040 17 45838990 intron variant G/A;C snv 0.700 1.000 1 2012 2012
dbSNP: rs10445368
rs10445368
MAPT-AS1
2 1.000 0.080 17 45855805 intron variant C/T snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs10445370
rs10445370
MAPT-AS1
1 17 45857752 intron variant G/A snv 0.14 0.700 1.000 1 2012 2012
dbSNP: rs10445371
rs10445371
MAPT
3 0.925 0.120 17 45988044 intron variant G/A snv 0.15 0.700 1.000 1 2012 2012
dbSNP: rs10445937
rs10445937 		3 2 60410521 intron variant G/A snv 0.39 0.700 1.000 1 2012 2012
dbSNP: rs10447387
rs10447387 		1 6 25641872 upstream gene variant A/G snv 0.27 0.700 1.000 1 2012 2012
dbSNP: rs10456321
rs10456321
CMAHP ; CARMIL1
1 6 25333810 intron variant T/C snv 0.14 0.700 1.000 1 2012 2012