Disease: GELEOPHYSIC DYSPLASIA 3 ×
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs1554974135
rs1554974135 		0.925 0.080 11 65547459 missense variant G/C snv
CUI: C4540511
Disease: GELEOPHYSIC DYSPLASIA 3
GELEOPHYSIC DYSPLASIA 3 		0.700 1.000 1 2016 2016
dbSNP: rs1188540819
rs1188540819 		1.000 11 65547915 splice region variant C/T snv 4.0E-06
CUI: C4540511
Disease: GELEOPHYSIC DYSPLASIA 3
GELEOPHYSIC DYSPLASIA 3 		0.700 0
dbSNP: rs1554971742
rs1554971742 		1.000 11 65539080 stop lost T/A snv
CUI: C4540511
Disease: GELEOPHYSIC DYSPLASIA 3
GELEOPHYSIC DYSPLASIA 3 		0.700 0