Source: CLINVAR

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: rs61816761
rs61816761
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C0013595
Disease: Eczema
Eczema
0.900 1.000 0 2006 2019
dbSNP: rs61816761
rs61816761
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C0011615
Disease: Dermatitis, Atopic
Dermatitis, Atopic
0.800 1.000 4 2006 2018
dbSNP: rs61816761
rs61816761
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C0079584
Disease: Ichthyosis Vulgaris
Ichthyosis Vulgaris
0.740 1.000 11 2006 2013
dbSNP: rs61816761
rs61816761
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C0003862
Disease: Arthralgia
Arthralgia
0.700 1.000 4 2006 2006
dbSNP: rs61816761
rs61816761
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C3875321
Disease: Inflammatory dermatosis
Inflammatory dermatosis
0.700 1.000 4 2006 2006
dbSNP: rs61816761
rs61816761
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C0041834
Disease: Erythema
Erythema
0.700 1.000 4 2006 2006
dbSNP: rs61816761
rs61816761
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 0
dbSNP: rs61816761
rs61816761
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C1853965
Disease: Dermatitis, Atopic, 2
Dermatitis, Atopic, 2
0.700 0
dbSNP: rs61816761
rs61816761
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C0027092
Disease: Myopia
Myopia
0.700 0
dbSNP: rs61816761
rs61816761
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C0349588
Disease: Short stature
Short stature
0.700 0
dbSNP: rs61816761
rs61816761
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C1843367
Disease: Poor school performance
Poor school performance
0.700 0
dbSNP: rs61816761
rs61816761
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C1306710
Disease: Facial asymmetry
Facial asymmetry
0.700 0
dbSNP: rs61816761
rs61816761
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C1827524
Disease: Wide spaced nipples
Wide spaced nipples
0.700 0
dbSNP: rs61816761
rs61816761
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C0263401
Disease: Cutis marmorata
Cutis marmorata
0.700 0
dbSNP: rs61816761
rs61816761
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C0029453
Disease: Osteopenia
Osteopenia
0.700 0
dbSNP: rs61816761
rs61816761
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C0028738
Disease: Nystagmus
Nystagmus
0.700 0
dbSNP: rs61816761
rs61816761
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C0036572
Disease: Seizures
Seizures
0.700 0
dbSNP: rs61816761
rs61816761
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
DERMATITIS, ATOPIC, 2, SUSCEPTIBILITY TO
0.700 0
dbSNP: rs61816761
rs61816761
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C0521525
Disease: Short neck
Short neck
0.700 0
dbSNP: rs61816761
rs61816761
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C4551563
Disease: Microcephaly (physical finding)
Microcephaly (physical finding)
0.700 0
dbSNP: rs61816761
rs61816761
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C1963101
Disease: Encephalopathy, CTCAE 3.0
Encephalopathy, CTCAE 3.0
0.700 0
dbSNP: rs61816761
rs61816761
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C0424503
Disease: Dysmorphic facies
Dysmorphic facies
0.700 0
dbSNP: rs61816761
rs61816761
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C0848558
Disease: Hypospadias
Hypospadias
0.700 0
dbSNP: rs61816761
rs61816761
0.658 0.640 1 152313385 stop gained G/A;T snv 9.4E-03; 8.0E-06
CUI: C0040485
Disease: Torticollis
Torticollis
0.700 0