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: rs1124511
rs1124511
EDEM2 ; MMP24-AS1-EDEM2
2 20 35148894 upstream gene variant A/C snv 0.48 0.700 1.000 1 2010 2010
dbSNP: rs11696967
rs11696967
MMP24-AS1-EDEM2
2 20 35155806 intergenic variant A/C snv 0.23 0.700 1.000 1 2010 2010
dbSNP: rs12621149
rs12621149
IWS1
2 2 127509268 intron variant A/C snv 0.68 0.700 1.000 1 2010 2010
dbSNP: rs13023094
rs13023094
SLC4A1AP
4 0.925 0.120 2 27687839 intron variant A/C snv 0.16 0.700 1.000 1 2010 2010
dbSNP: rs17362834
rs17362834
EPB41L1 ; LOC100130373
2 20 36147283 intron variant A/C snv 2.8E-02 0.700 1.000 1 2010 2010
dbSNP: rs2268081
rs2268081
RALY
2 20 34016024 intron variant A/C snv 8.7E-02 0.700 1.000 1 2010 2010
dbSNP: rs2295097
rs2295097
ACSS2
2 20 34890418 intron variant A/C snv 5.9E-02 0.700 1.000 1 2010 2010
dbSNP: rs2425024
rs2425024
MMP24 ; MMP24OS ; MMP24-AS1-EDEM2
2 20 35257135 intron variant A/C snv 0.34 0.700 1.000 1 2010 2010
dbSNP: rs4911495
rs4911495
UQCC1
2 20 35384175 intron variant A/C snv 8.5E-02 6.1E-02 0.700 1.000 1 2010 2010
dbSNP: rs6088721
rs6088721
EDEM2 ; MMP24-AS1-EDEM2
2 20 35118208 intron variant A/C snv 0.60 0.700 1.000 1 2010 2010
dbSNP: rs6121021
rs6121021
CPNE1 ; RBM12
2 20 35664516 5 prime UTR variant A/C snv 6.7E-02 0.700 1.000 1 2010 2010
dbSNP: rs6121022
rs6121022 		2 20 35667085 intron variant A/C snv 6.7E-02 0.700 1.000 1 2010 2010
dbSNP: rs6121023
rs6121023
NFS1
2 20 35668718 3 prime UTR variant A/C snv 6.7E-02 0.700 1.000 1 2010 2010
dbSNP: rs6430936
rs6430936 		2 2 127250110 downstream gene variant A/C snv 0.77 0.700 1.000 1 2010 2010
dbSNP: rs7568070
rs7568070
CYP27C1
2 2 127195478 synonymous variant A/C snv 0.26 0.32 0.700 1.000 1 2010 2010
dbSNP: rs819156
rs819156
AHCY
2 20 34293217 intron variant A/C snv 0.87 0.700 1.000 1 2010 2010
dbSNP: rs882436
rs882436
FER1L4
2 20 35607349 intron variant A/C snv 0.10 0.700 1.000 1 2010 2010
dbSNP: rs11700080
rs11700080
ITCH
2 20 34458956 intron variant A/C;G snv 0.700 1.000 1 2010 2010
dbSNP: rs12477670
rs12477670
MYO7B
2 2 127576951 intron variant A/C;G snv 0.700 1.000 1 2010 2010
dbSNP: rs13038810
rs13038810 		2 20 36282301 intergenic variant A/C;G snv 0.700 1.000 1 2010 2010
dbSNP: rs17336615
rs17336615
NFS1
2 20 35674089 non coding transcript exon variant A/C;G snv 0.700 1.000 1 2010 2010
dbSNP: rs17406518
rs17406518
PROCR ; MMP24OS ; MMP24-AS1-EDEM2
2 20 35211373 intron variant A/C;G snv 0.700 1.000 1 2010 2010
dbSNP: rs224332
rs224332
GDF5 ; GDF5-AS1
2 20 35434874 missense variant A/C;G snv 0.700 1.000 1 2010 2010
dbSNP: rs6060172
rs6060172
TRPC4AP
2 20 35041002 intron variant A/C;G snv 0.700 1.000 1 2010 2010
dbSNP: rs6060546
rs6060546
NFS1
2 20 35669741 intron variant A/C;G snv 0.700 1.000 1 2010 2010