Source: CLINVAR

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: rs1555531363
rs1555531363
KIAA0753
0.925 0.240 17 6620832 frameshift variant G/- delins
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		0.700 1.000 1 2017 2017
dbSNP: rs1555531363
rs1555531363
KIAA0753
0.925 0.240 17 6620832 frameshift variant G/- delins
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2017 2017
dbSNP: rs746068882
rs746068882
KIAA0753
0.925 0.240 17 6623016 stop gained G/A;C snv 1.6E-05; 7.2E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2017 2017
dbSNP: rs746068882
rs746068882
KIAA0753
0.925 0.240 17 6623016 stop gained G/A;C snv 1.6E-05; 7.2E-05
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		0.700 1.000 1 2017 2017
dbSNP: rs762771340
rs762771340
KIAA0753
0.925 0.240 17 6623043 stop gained G/A snv 2.0E-05 7.0E-06
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 1.000 1 2017 2017
dbSNP: rs762771340
rs762771340
KIAA0753
0.925 0.240 17 6623043 stop gained G/A snv 2.0E-05 7.0E-06
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		0.700 1.000 1 2017 2017
dbSNP: rs752659088
rs752659088
KIAA0753
0.882 0.240 17 6624770 synonymous variant G/A snv 6.5E-05
CUI: C0431399
Disease: Familial aplasia of the vermis
Familial aplasia of the vermis 		0.700 0
dbSNP: rs752659088
rs752659088
KIAA0753
0.882 0.240 17 6624770 synonymous variant G/A snv 6.5E-05
CUI: C0426817
Disease: Short ribs
Short ribs 		0.700 0
dbSNP: rs752659088
rs752659088
KIAA0753
0.882 0.240 17 6624770 synonymous variant G/A snv 6.5E-05
CUI: C0265275
Disease: Jeune thoracic dystrophy
Jeune thoracic dystrophy 		0.700 0
dbSNP: rs752659088
rs752659088
KIAA0753
0.882 0.240 17 6624770 synonymous variant G/A snv 6.5E-05
CUI: C1832988
Disease: Metaphyseal spurs
Metaphyseal spurs 		0.700 0
dbSNP: rs752659088
rs752659088
KIAA0753
0.882 0.240 17 6624770 synonymous variant G/A snv 6.5E-05
CUI: C1854912
Disease: Short long bone
Short long bone 		0.700 0
dbSNP: rs752659088
rs752659088
KIAA0753
0.882 0.240 17 6624770 synonymous variant G/A snv 6.5E-05
CUI: C1865060
Disease: Molar tooth sign on MRI
Molar tooth sign on MRI 		0.700 0
dbSNP: rs752659088
rs752659088
KIAA0753
0.882 0.240 17 6624770 synonymous variant G/A snv 6.5E-05
CUI: C4024597
Disease: Aplasia/Hypoplasia involving the pelvis
Aplasia/Hypoplasia involving the pelvis 		0.700 0
dbSNP: rs752659088
rs752659088
KIAA0753
0.882 0.240 17 6624770 synonymous variant G/A snv 6.5E-05
CUI: C1837482
Disease: Thoracic hypoplasia
Thoracic hypoplasia 		0.700 0