WDR35, WD repeat domain 35, 57539

N. diseases: 188; N. variants: 30
Disease: CRANIOECTODERMAL DYSPLASIA 2 ×
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: rs267607174
rs267607174 		0.925 0.120 2 19945787 missense variant T/C snv
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		0.800 1.000 1 2010 2010
dbSNP: rs267607175
rs267607175 		0.925 0.120 2 19933469 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		0.800 1.000 1 2010 2010
dbSNP: rs371669862
rs371669862 		0.925 2 19960553 splice donor variant C/A;G;T snv 8.0E-06
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		0.700 1.000 6 2011 2018
dbSNP: rs199952377
rs199952377 		0.851 0.160 2 19941796 stop gained A/C snv 1.6E-04 1.9E-04
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		0.700 1.000 3 2013 2017
dbSNP: rs746128772
rs746128772 		0.925 2 19914054 synonymous variant C/T snv 1.6E-05
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		0.700 1.000 1 2015 2015
dbSNP: rs765513105
rs765513105 		1.000 2 19982471 missense variant C/T snv
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		0.700 1.000 1 2017 2017
dbSNP: rs1327489348
rs1327489348 		0.925 2 19962311 frameshift variant -/C delins 4.0E-06
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		0.700 0
dbSNP: rs1553313859
rs1553313859 		1.000 2 19913645 missense variant C/A snv
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		0.700 0
dbSNP: rs1553317813
rs1553317813 		0.925 2 19941837 splice acceptor variant CCTTTAAAGACAAAAAAAAAGTTATGTTTCATT/- delins
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		0.700 0
dbSNP: rs199840434
rs199840434 		0.925 2 19969494 stop gained G/A snv 1.6E-05 4.9E-05
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		0.700 0
dbSNP: rs200140363
rs200140363 		0.851 0.160 2 19953852 missense variant C/T snv 3.2E-05 2.8E-05
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		0.700 0
dbSNP: rs397515334
rs397515334 		0.925 0.120 2 19931375 frameshift variant G/- delins 4.0E-06
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		0.700 0
dbSNP: rs397515533
rs397515533 		0.925 0.120 2 19946536 missense variant A/G snv 7.0E-06
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		0.700 0
dbSNP: rs397515534
rs397515534 		0.925 0.120 2 19989284 splice acceptor variant T/C;G snv 8.0E-06
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		0.700 0
dbSNP: rs541910371
rs541910371 		1.000 2 19914229 missense variant T/C;G snv 8.0E-06; 4.0E-06
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		0.700 0
dbSNP: rs767751856
rs767751856 		0.925 2 19953853 stop gained G/A snv 8.0E-06 1.4E-05
CUI: C3150874
Disease: CRANIOECTODERMAL DYSPLASIA 2
CRANIOECTODERMAL DYSPLASIA 2 		0.700 0