Source: ALL

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: rs28935470
rs28935470
1.000 0.080 X 154367505 missense variant C/T snv
CUI: C1844696
Disease: OTOPALATODIGITAL SYNDROME, TYPE II
OTOPALATODIGITAL SYNDROME, TYPE II
0.810 1.000 4 2003 2016
dbSNP: rs137853312
rs137853312
0.790 0.160 X 154360238 missense variant G/A snv 9.3E-06
CUI: C4281559
Disease: FRONTOMETAPHYSEAL DYSPLASIA 1
FRONTOMETAPHYSEAL DYSPLASIA 1
0.810 1.000 3 2003 2016
dbSNP: rs137853314
rs137853314
1.000 0.080 X 154367857 missense variant C/A snv
CUI: C0265251
Disease: Oto-Palato-digital syndrome type 1
Oto-Palato-digital syndrome type 1
0.810 1.000 3 2003 2016
dbSNP: rs137853311
rs137853311
1.000 0.080 X 154364582 missense variant G/A snv 1.1E-05
Periventricular Heterotopia, X-Linked
0.800 1.000 6 2001 2006
dbSNP: rs137853313
rs137853313
1.000 0.080 X 154371130 missense variant G/C snv
Periventricular Heterotopia, X-Linked
0.800 1.000 6 2001 2006
dbSNP: rs137853315
rs137853315
0.882 0.200 X 154368081 missense variant G/A snv
Periventricular Heterotopia, X-Linked
0.800 1.000 6 2001 2006
dbSNP: rs28935169
rs28935169
1.000 0.080 X 154371001 missense variant T/A snv
Periventricular Heterotopia, X-Linked
0.800 1.000 6 2001 2006
dbSNP: rs137853317
rs137853317
0.827 0.120 X 154367878 missense variant G/A snv
CUI: C0265251
Disease: Oto-Palato-digital syndrome type 1
Oto-Palato-digital syndrome type 1
0.800 1.000 3 2003 2016
dbSNP: rs137853318
rs137853318
1.000 0.080 X 154367732 missense variant C/A snv
CUI: C1844696
Disease: OTOPALATODIGITAL SYNDROME, TYPE II
OTOPALATODIGITAL SYNDROME, TYPE II
0.800 1.000 3 2003 2016
dbSNP: rs28935469
rs28935469
0.882 0.280 X 154367844 missense variant G/A snv
CUI: C0265251
Disease: Oto-Palato-digital syndrome type 1
Oto-Palato-digital syndrome type 1
0.800 1.000 3 2003 2016
dbSNP: rs28935471
rs28935471
1.000 0.080 X 154360319 missense variant T/G snv
CUI: C4281559
Disease: FRONTOMETAPHYSEAL DYSPLASIA 1
FRONTOMETAPHYSEAL DYSPLASIA 1
0.800 1.000 3 2003 2016
dbSNP: rs28935472
rs28935472
1.000 0.080 X 154360233 missense variant C/T snv
CUI: C0025237
Disease: Melnick-Needles Syndrome
Melnick-Needles Syndrome
0.800 1.000 2 2003 2016
dbSNP: rs137853316
rs137853316
0.851 0.160 X 154354860 missense variant C/A snv
CUI: C4281559
Disease: FRONTOMETAPHYSEAL DYSPLASIA 1
FRONTOMETAPHYSEAL DYSPLASIA 1
0.710 1.000 3 2003 2016
dbSNP: rs267606816
rs267606816
0.925 0.200 X 154367403 missense variant C/T snv
Cardiac valvular dysplasia, X-linked
0.710 1.000 1 2007 2007
dbSNP: rs267606817
rs267606817
0.925 0.200 X 154364263 missense variant A/T snv
Cardiac valvular dysplasia, X-linked
0.710 1.000 1 2007 2007
dbSNP: rs28935473
rs28935473
0.925 0.080 X 154360199 missense variant G/A snv
CUI: C0025237
Disease: Melnick-Needles Syndrome
Melnick-Needles Syndrome
0.710 1.000 1 2006 2006
dbSNP: rs1557179659
rs1557179659
1.000 X 154367943 missense variant C/T snv
CUI: C0432072
Disease: Dysmorphic features
Dysmorphic features
0.700 1.000 16 1999 2017
dbSNP: rs1557179659
rs1557179659
1.000 X 154367943 missense variant C/T snv
CUI: C0000772
Disease: Multiple congenital anomalies
Multiple congenital anomalies
0.700 1.000 16 1999 2017
dbSNP: rs137853312
rs137853312
0.790 0.160 X 154360238 missense variant G/A snv 9.3E-06
Periventricular Heterotopia, X-Linked
0.700 1.000 3 2005 2006
dbSNP: rs137853312
rs137853312
0.790 0.160 X 154360238 missense variant G/A snv 9.3E-06
CUI: C1844696
Disease: OTOPALATODIGITAL SYNDROME, TYPE II
OTOPALATODIGITAL SYNDROME, TYPE II
0.700 1.000 3 2005 2006
dbSNP: rs137853312
rs137853312
0.790 0.160 X 154360238 missense variant G/A snv 9.3E-06
CUI: C0025237
Disease: Melnick-Needles Syndrome
Melnick-Needles Syndrome
0.700 1.000 3 2005 2006
dbSNP: rs137853312
rs137853312
0.790 0.160 X 154360238 missense variant G/A snv 9.3E-06
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia
0.700 1.000 3 2005 2006
dbSNP: rs137853317
rs137853317
0.827 0.120 X 154367878 missense variant G/A snv
Periventricular Heterotopia, X-Linked
0.700 1.000 3 2003 2007
dbSNP: rs137853317
rs137853317
0.827 0.120 X 154367878 missense variant G/A snv
CUI: C0265293
Disease: Frontometaphyseal dysplasia
Frontometaphyseal dysplasia
0.700 1.000 3 2003 2007
dbSNP: rs137853317
rs137853317
0.827 0.120 X 154367878 missense variant G/A snv
CUI: C1844696
Disease: OTOPALATODIGITAL SYNDROME, TYPE II
OTOPALATODIGITAL SYNDROME, TYPE II
0.700 1.000 3 2003 2007