NECTIN4, nectin cell adhesion molecule 4, 81607

N. diseases: 77; N. variants: 6
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: rs267606992
rs267606992 		1.000 1 161077629 missense variant G/A snv
CUI: C3150807
Disease: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1
ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 		0.800 1.000 1 2010 2010
dbSNP: rs387907014
rs387907014 		1.000 1 161077548 missense variant G/C snv 7.0E-06
CUI: C3150807
Disease: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1
ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 		0.710 1.000 1 2011 2011
dbSNP: rs1085307124
rs1085307124 		1.000 1 161077459 missense variant C/T snv
CUI: C3150807
Disease: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1
ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 		0.700 0
dbSNP: rs1085307125
rs1085307125 		1.000 1 161079848 stop gained G/A snv
CUI: C3150807
Disease: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1
ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 		0.700 0
dbSNP: rs267606991
rs267606991 		1.000 1 161076355 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C3150807
Disease: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1
ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 		0.700 0
dbSNP: rs730880260
rs730880260 		1.000 1 161074705 frameshift variant A/- delins
CUI: C3150807
Disease: ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1
ECTODERMAL DYSPLASIA-SYNDACTYLY SYNDROME 1 		0.700 0