Source: CURATED

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: rs74315429
rs74315429
SALL4
1.000 0.120 20 51788940 missense variant T/C snv
CUI: C1623209
Disease: Okihiro Syndrome
Okihiro Syndrome 		0.800 1.000 3 2002 2006
dbSNP: rs17201143
rs17201143
SALL4
20 51785540 intron variant C/T snv 0.24
CUI: C1305855
Disease: Body mass index
Body mass index 		0.700 1.000 1 2019 2019
dbSNP: rs6126344
rs6126344
SALL4
0.925 0.120 20 51790963 missense variant A/C;T snv 0.35; 8.0E-06
CUI: C0008925
Disease: Cleft Palate
Cleft Palate 		0.700 1.000 1 2017 2017
dbSNP: rs6126344
rs6126344
SALL4
0.925 0.120 20 51790963 missense variant A/C;T snv 0.35; 8.0E-06
CUI: C0008924
Disease: Cleft upper lip
Cleft upper lip 		0.700 1.000 1 2017 2017
dbSNP: rs879255537
rs879255537
SALL4
1.000 0.120 20 51792072 frameshift variant -/C delins
CUI: C1623209
Disease: Okihiro Syndrome
Okihiro Syndrome 		0.700 1.000 1 2016 2016
dbSNP: rs1555850961
rs1555850961
SALL4
1.000 0.120 20 51791920 frameshift variant C/- delins
CUI: C1623209
Disease: Okihiro Syndrome
Okihiro Syndrome 		0.700 0
dbSNP: rs1568864697
rs1568864697
SALL4
1.000 0.120 20 51791251 frameshift variant A/- del
CUI: C1623209
Disease: Okihiro Syndrome
Okihiro Syndrome 		0.700 0
dbSNP: rs1568865283
rs1568865283
SALL4
1.000 0.120 20 51791655 frameshift variant -/C delins
CUI: C1623209
Disease: Okihiro Syndrome
Okihiro Syndrome 		0.700 0
dbSNP: rs74315424
rs74315424
SALL4
1.000 0.120 20 51790529 stop gained G/A snv
CUI: C1623209
Disease: Okihiro Syndrome
Okihiro Syndrome 		0.700 0
dbSNP: rs74315425
rs74315425
SALL4
1.000 0.120 20 51789010 stop gained G/A snv
CUI: C1623209
Disease: Okihiro Syndrome
Okihiro Syndrome 		0.700 0
dbSNP: rs74315426
rs74315426
SALL4
1.000 0.120 20 51791960 stop gained T/A snv
CUI: C1623209
Disease: Okihiro Syndrome
Okihiro Syndrome 		0.700 0
dbSNP: rs74315427
rs74315427
SALL4
1.000 0.120 20 51790634 stop gained G/A snv
CUI: C1623209
Disease: Okihiro Syndrome
Okihiro Syndrome 		0.700 0
dbSNP: rs74315428
rs74315428
SALL4
1.000 0.120 20 51788890 stop gained G/A snv
CUI: C1623209
Disease: Okihiro Syndrome
Okihiro Syndrome 		0.700 0
dbSNP: rs797044509
rs797044509
SALL4
1.000 0.120 20 51791986 frameshift variant -/G delins
CUI: C1623209
Disease: Okihiro Syndrome
Okihiro Syndrome 		0.700 0