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
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT
0.800 1.000 3 1999 2008
dbSNP: rs557166582
rs557166582
0.925 0.080 2 108929262 missense variant G/A;T snv 4.0E-06; 3.6E-05
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
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT
0.700 0
dbSNP: rs1310296844
rs1310296844
0.925 0.080 2 108897122 missense variant C/T snv 7.0E-06
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT
0.700 0
dbSNP: rs1553444895
rs1553444895
0.925 0.080 2 108906307 splice donor variant C/T snv
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT
0.700 0
dbSNP: rs886041005
rs886041005
1.000 2 108896970 stop gained A/C;T snv
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
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT
0.700 0
dbSNP: rs3827760
rs3827760
0.752 0.160 2 108897145 missense variant A/G snv 0.15 5.9E-02
ECTODERMAL DYSPLASIA 10A, HYPOHIDROTIC/HAIR/NAIL TYPE, AUTOSOMAL DOMINANT
0.010 1.000 1 2016 2016