Source: BEFREE

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs11466285
rs11466285
0.851 0.200 2 70450307 3 prime UTR variant A/C;G snv
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
0.010 1.000 1 2014 2014
dbSNP: rs11466285
rs11466285
0.851 0.200 2 70450307 3 prime UTR variant A/C;G snv
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
0.010 1.000 1 2014 2014
dbSNP: rs11466285
rs11466285
0.851 0.200 2 70450307 3 prime UTR variant A/C;G snv
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
0.010 1.000 1 2014 2014
dbSNP: rs11466285
rs11466285
0.851 0.200 2 70450307 3 prime UTR variant A/C;G snv
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips
0.010 1.000 1 2014 2014
dbSNP: rs11466285
rs11466285
0.851 0.200 2 70450307 3 prime UTR variant A/C;G snv
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated
0.010 1.000 1 2014 2014
dbSNP: rs2166975
rs2166975
0.827 0.240 2 70450862 synonymous variant G/A snv 0.24 0.23
Cleft Lip with or without Cleft Palate
0.010 1.000 1 2007 2007
dbSNP: rs2166975
rs2166975
0.827 0.240 2 70450862 synonymous variant G/A snv 0.24 0.23
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
0.010 1.000 1 2007 2007
dbSNP: rs2166975
rs2166975
0.827 0.240 2 70450862 synonymous variant G/A snv 0.24 0.23
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
0.010 1.000 1 2007 2007
dbSNP: rs2166975
rs2166975
0.827 0.240 2 70450862 synonymous variant G/A snv 0.24 0.23
CUI: C0007789
Disease: Cerebral Palsy
Cerebral Palsy
0.010 1.000 1 2007 2007
dbSNP: rs2166975
rs2166975
0.827 0.240 2 70450862 synonymous variant G/A snv 0.24 0.23
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated
0.010 1.000 1 2007 2007
dbSNP: rs2862851
rs2862851
1.000 0.040 2 70485670 intron variant T/C snv 0.58
CUI: C0029408
Disease: Degenerative polyarthritis
Degenerative polyarthritis
0.010 1.000 1 2017 2017
dbSNP: rs3732253
rs3732253
1.000 2 70448966 3 prime UTR variant G/A snv 0.22
CUI: C3150911
Disease: GASTRIC CANCER, INTESTINAL
GASTRIC CANCER, INTESTINAL
0.010 1.000 1 2014 2014
dbSNP: rs3771523
rs3771523
0.851 0.200 2 70450336 3 prime UTR variant C/T snv 0.14
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip
0.010 1.000 1 2014 2014
dbSNP: rs3771523
rs3771523
0.851 0.200 2 70450336 3 prime UTR variant C/T snv 0.14
CUI: C2981150
Disease: Uranostaphyloschisis
Uranostaphyloschisis
0.010 1.000 1 2014 2014
dbSNP: rs3771523
rs3771523
0.851 0.200 2 70450336 3 prime UTR variant C/T snv 0.14
CUI: C4321245
Disease: Cleft lip or lips
Cleft lip or lips
0.010 1.000 1 2014 2014
dbSNP: rs3771523
rs3771523
0.851 0.200 2 70450336 3 prime UTR variant C/T snv 0.14
CUI: C1837218
Disease: Cleft palate, isolated
Cleft palate, isolated
0.010 1.000 1 2014 2014
dbSNP: rs3771523
rs3771523
0.851 0.200 2 70450336 3 prime UTR variant C/T snv 0.14
CUI: C0008925
Disease: Cleft Palate
Cleft Palate
0.010 1.000 1 2014 2014