EDAR, ectodysplasin A receptor, 10913

N. diseases: 69; N. variants: 36
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: rs121908453
rs121908453 		0.882 0.080 2 108896995 missense variant C/T snv
CUI: C3888065
Disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT 		0.800 1.000 3 1999 2008
dbSNP: rs1558793621
rs1558793621 		0.925 0.080 2 108897084 frameshift variant -/C delins
CUI: C3541517
Disease: ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT 		0.700 1.000 2 2013 2015
dbSNP: rs1558793736
rs1558793736 		0.925 0.080 2 108897165 frameshift variant C/- del
CUI: C3541517
Disease: ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT 		0.700 1.000 2 2013 2015
dbSNP: rs757233170
rs757233170 		0.925 0.080 2 108929381 splice acceptor variant T/C snv 8.0E-06 7.0E-06
CUI: C3541517
Disease: ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT 		0.700 1.000 2 1999 2011
dbSNP: rs116475987
rs116475987 		2 108986407 intron variant T/C snv 9.7E-03
CUI: C2985280
Disease: Blood Protein Measurement
Blood Protein Measurement 		0.700 1.000 1 2018 2018
dbSNP: rs17034666
rs17034666 		2 108955052 intron variant G/A snv 0.11
CUI: C0042834
Disease: Vital capacity
Vital capacity 		0.700 1.000 1 2018 2018
dbSNP: rs3827760
rs3827760 		0.752 0.160 2 108897145 missense variant A/G snv 0.15 5.9E-02
CUI: C4049090
Disease: Alopecia, Androgenetic, 1
Alopecia, Androgenetic, 1 		0.700 1.000 1 2016 2016
dbSNP: rs3827760
rs3827760 		0.752 0.160 2 108897145 missense variant A/G snv 0.15 5.9E-02
CUI: C3539920
Disease: ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
ECTODERMAL DYSPLASIA 11B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE 		0.010 1.000 1 2016 2016
dbSNP: rs3827760
rs3827760 		0.752 0.160 2 108897145 missense variant A/G snv 0.15 5.9E-02
CUI: C3541517
Disease: ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT 		0.010 1.000 1 2016 2016
dbSNP: rs3827760
rs3827760 		0.752 0.160 2 108897145 missense variant A/G snv 0.15 5.9E-02
CUI: C3888065
Disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT 		0.010 1.000 1 2016 2016
dbSNP: rs557166582
rs557166582 		0.925 0.080 2 108929262 missense variant G/A;T snv 4.0E-06; 3.6E-05
CUI: C3888065
Disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT 		0.700 1.000 1 2012 2012
dbSNP: rs1060499610
rs1060499610 		1.000 2 108929270 frameshift variant C/- delins
CUI: C3888065
Disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs121908450
rs121908450 		0.851 0.160 2 108929288 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C3551587
Disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs121908450
rs121908450 		0.851 0.160 2 108929288 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C3150914
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		0.700 0
dbSNP: rs121908452
rs121908452 		0.925 0.080 2 108897182 stop gained G/A snv
CUI: C3551587
Disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs121908453
rs121908453 		0.882 0.080 2 108896995 missense variant C/T snv
CUI: C3551587
Disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs121908456
rs121908456 		1.000 2 108897194 stop gained C/A;T snv
CUI: C3551587
Disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs1310296844
rs1310296844 		0.925 0.080 2 108897122 missense variant C/T snv 7.0E-06
CUI: C3888065
Disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs1432041144
rs1432041144 		0.925 0.080 2 108907892 stop gained C/A snv 7.0E-06
CUI: C3541517
Disease: ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT
ECTODERMAL DYSPLASIA 11A, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs1553444895
rs1553444895 		0.925 0.080 2 108906307 splice donor variant C/T snv
CUI: C3888065
Disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs780424781
rs780424781 		0.925 0.080 2 108929289 missense variant G/A;T snv 8.0E-06 7.0E-06
CUI: C3150914
Disease: MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE)
MITOCHONDRIAL DNA DEPLETION SYNDROME 4B (MNGIE TYPE) 		0.700 0
dbSNP: rs886041005
rs886041005 		1.000 2 108896970 stop gained A/C;T snv
CUI: C3888065
Disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs917638291
rs917638291 		0.925 0.080 2 108897091 missense variant A/G snv 4.0E-06
CUI: C3888065
Disease: ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT 		0.700 0
dbSNP: rs121908450
rs121908450 		0.851 0.160 2 108929288 missense variant C/T snv 4.0E-06 1.4E-05
CUI: C3887494
Disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.800 1.000 8 1999 2016
dbSNP: rs121908451
rs121908451 		1.000 0.080 2 108929295 missense variant A/G snv 1.6E-05 1.4E-05
CUI: C3887494
Disease: ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE
ECTODERMAL DYSPLASIA 10B, HYPOHIDROTIC/HAIR/TOOTH TYPE, AUTOSOMAL RECESSIVE 		Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases 0.700 1.000 8 1999 2016