Source: CURATED

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: rs886040971
rs886040971
0.683 0.280 8 115604339 stop gained G/A;T snv
Trichorhinophalangeal dysplasia type I
0.700 1.000 5 2001 2017
dbSNP: rs886040971
rs886040971
0.683 0.280 8 115604339 stop gained G/A;T snv
Trichorhinophalangeal Syndrome, Type III
0.700 1.000 5 2001 2017
dbSNP: rs886040971
rs886040971
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C4021959
Disease: Round ear
Round ear
0.700 0
dbSNP: rs886040971
rs886040971
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C0019322
Disease: Umbilical hernia
Umbilical hernia
0.700 0
dbSNP: rs886040971
rs886040971
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C0426891
Disease: Broad thumbs
Broad thumbs
0.700 0
dbSNP: rs886040971
rs886040971
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C0011334
Disease: Dental caries
Dental caries
0.700 0
dbSNP: rs886040971
rs886040971
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C1858085
Disease: Malar flattening
Malar flattening
0.700 0
dbSNP: rs886040971
rs886040971
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C0423808
Disease: Brachyonychia
Brachyonychia
0.700 0
dbSNP: rs886040971
rs886040971
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C0333068
Disease: Flexion contracture
Flexion contracture
0.700 0
dbSNP: rs886040971
rs886040971
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C0036572
Disease: Seizures
Seizures
0.700 0
dbSNP: rs886040971
rs886040971
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C1849367
Disease: Nasal bridge wide
Nasal bridge wide
0.700 0
dbSNP: rs886040971
rs886040971
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C1832348
Disease: Slow-growing hair
Slow-growing hair
0.700 0
dbSNP: rs886040971
rs886040971
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C1865014
Disease: Long philtrum
Long philtrum
0.700 0
dbSNP: rs886040971
rs886040971
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C0009081
Disease: Congenital clubfoot
Congenital clubfoot
0.700 0
dbSNP: rs886040971
rs886040971
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C4025148
Disease: Hyperextensible thumb
Hyperextensible thumb
0.700 0
dbSNP: rs886040971
rs886040971
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C0158731
Disease: Congenital pectus carinatum
Congenital pectus carinatum
0.700 0
dbSNP: rs886040971
rs886040971
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C0235833
Disease: Congenital diaphragmatic hernia
Congenital diaphragmatic hernia
0.700 0
dbSNP: rs886040971
rs886040971
0.683 0.280 8 115604339 stop gained G/A;T snv
Tapering pointed ends of distal finger phalanges
0.700 0
dbSNP: rs886040971
rs886040971
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C1857482
Disease: Slender finger
Slender finger
0.700 0
dbSNP: rs886040971
rs886040971
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C1842878
Disease: Short 5th finger
Short 5th finger
0.700 0
dbSNP: rs886040971
rs886040971
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C0023003
Disease: Langer-Giedion Syndrome
Langer-Giedion Syndrome
0.700 0
dbSNP: rs886040971
rs886040971
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C0221357
Disease: Brachydactyly
Brachydactyly
0.700 0
dbSNP: rs886040971
rs886040971
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C0557874
Disease: Global developmental delay
Global developmental delay
0.700 0
dbSNP: rs886040971
rs886040971
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C0036439
Disease: Scoliosis, unspecified
Scoliosis, unspecified
0.700 0
dbSNP: rs886040971
rs886040971
0.683 0.280 8 115604339 stop gained G/A;T snv
CUI: C1835238
Disease: Slow-growing nails
Slow-growing nails
0.700 0