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: rs587776958
rs587776958
RAB33B ; LOC107984036
1.000 4 139454331 missense variant A/C snv
CUI: C3714896
Disease: SMITH-MCCORT DYSPLASIA 2
SMITH-MCCORT DYSPLASIA 2 		0.800 0
dbSNP: rs886044716
rs886044716
RAB33B
1.000 4 139472880 missense variant T/A snv
CUI: C3714896
Disease: SMITH-MCCORT DYSPLASIA 2
SMITH-MCCORT DYSPLASIA 2 		0.800 0
dbSNP: rs1085307128
rs1085307128
RAB33B ; LOC107984036
1.000 4 139454406 stop gained C/G;T snv 4.0E-06
CUI: C3714896
Disease: SMITH-MCCORT DYSPLASIA 2
SMITH-MCCORT DYSPLASIA 2 		0.700 0
dbSNP: rs1085307129
rs1085307129
RAB33B
1.000 4 139472801 missense variant T/C snv
CUI: C3714896
Disease: SMITH-MCCORT DYSPLASIA 2
SMITH-MCCORT DYSPLASIA 2 		0.700 0
dbSNP: rs1085307130
rs1085307130
RAB33B ; LOC107984036
1.000 4 139454240 frameshift variant CGGGGCAG/- delins
CUI: C3714896
Disease: SMITH-MCCORT DYSPLASIA 2
SMITH-MCCORT DYSPLASIA 2 		0.700 0
dbSNP: rs1085307131
rs1085307131
RAB33B
1.000 4 139472926 stop gained C/T snv
CUI: C3714896
Disease: SMITH-MCCORT DYSPLASIA 2
SMITH-MCCORT DYSPLASIA 2 		0.700 0
dbSNP: rs1561002040
rs1561002040
RAB33B ; LOC107984036
1.000 4 139454380 frameshift variant C/- delins
CUI: C1844704
Disease: Platyspondyly
Platyspondyly 		0.700 0
dbSNP: rs1561002040
rs1561002040
RAB33B ; LOC107984036
1.000 4 139454380 frameshift variant C/- delins
CUI: C0426817
Disease: Short ribs
Short ribs 		0.700 0
dbSNP: rs1561002040
rs1561002040
RAB33B ; LOC107984036
1.000 4 139454380 frameshift variant C/- delins
CUI: C3714896
Disease: SMITH-MCCORT DYSPLASIA 2
SMITH-MCCORT DYSPLASIA 2 		0.700 0
dbSNP: rs1561002040
rs1561002040
RAB33B ; LOC107984036
1.000 4 139454380 frameshift variant C/- delins
CUI: C0349588
Disease: Short stature
Short stature 		0.700 0