Source: ALL

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: rs1559155954
rs1559155954
OBSL1
0.851 0.200 2 219568211 frameshift variant -/A delins
CUI: C1835884
Disease: Triangular face
Triangular face 		0.700 1.000 1 2019 2019
dbSNP: rs1559155954
rs1559155954
OBSL1
0.851 0.200 2 219568211 frameshift variant -/A delins
CUI: C0221358
Disease: Long narrow head
Long narrow head 		0.700 1.000 1 2019 2019
dbSNP: rs1559155954
rs1559155954
OBSL1
0.851 0.200 2 219568211 frameshift variant -/A delins
CUI: C4020962
Disease: Enlarged thorax
Enlarged thorax 		0.700 1.000 1 2019 2019
dbSNP: rs1559155954
rs1559155954
OBSL1
0.851 0.200 2 219568211 frameshift variant -/A delins
CUI: C1865014
Disease: Long philtrum
Long philtrum 		0.700 1.000 1 2019 2019
dbSNP: rs1559155954
rs1559155954
OBSL1
0.851 0.200 2 219568211 frameshift variant -/A delins
CUI: C1844505
Disease: Pointed chin
Pointed chin 		0.700 1.000 1 2019 2019
dbSNP: rs1559155954
rs1559155954
OBSL1
0.851 0.200 2 219568211 frameshift variant -/A delins
CUI: C1850049
Disease: Clinodactyly of the 5th finger
Clinodactyly of the 5th finger 		0.700 1.000 1 2019 2019
dbSNP: rs1559155954
rs1559155954
OBSL1
0.851 0.200 2 219568211 frameshift variant -/A delins
CUI: C0426789
Disease: Short thorax
Short thorax 		0.700 1.000 1 2019 2019
dbSNP: rs1559155954
rs1559155954
OBSL1
0.851 0.200 2 219568211 frameshift variant -/A delins
CUI: C1848862
Disease: Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
Miller-McKusick-Malvaux-Syndrome (3M Syndrome) 		0.700 1.000 1 2019 2019
dbSNP: rs1559155954
rs1559155954
OBSL1
0.851 0.200 2 219568211 frameshift variant -/A delins
CUI: C0221354
Disease: Frontal bossing
Frontal bossing 		0.700 1.000 1 2019 2019