rs1131692034, EDA

N. diseases: 14
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Anhydrotic Ectodermal Dysplasias
CUI: C1706004
Disease: Anhydrotic Ectodermal Dysplasias
2 0.790 0.160 X 69616488 stop gained C/A snv 0.700 0
Brittle hair
CUI: C0263490
Disease: Brittle hair
1 0.790 0.160 X 69616488 stop gained C/A snv 0.700 0
Christ-Siemens-Touraine syndrome
CUI: C0162359
Disease: Christ-Siemens-Touraine syndrome
78 0.790 0.160 X 69616488 stop gained C/A snv 0.700 0
Congenital hypotrichia
CUI: C4721530
Disease: Congenital hypotrichia
4 0.790 0.160 X 69616488 stop gained C/A snv 0.700 0
Depressed nasal bridge
CUI: C1836542
Disease: Depressed nasal bridge
39 0.790 0.160 X 69616488 stop gained C/A snv 0.700 0
Diminished sweating
CUI: C0553721
Disease: Diminished sweating
7 0.790 0.160 X 69616488 stop gained C/A snv 0.700 0
Dry skin
CUI: C0151908
Disease: Dry skin
12 0.790 0.160 X 69616488 stop gained C/A snv 0.700 0
Frontal bossing
CUI: C0221354
Disease: Frontal bossing
22 0.790 0.160 X 69616488 stop gained C/A snv 0.700 0
Hypodontia
CUI: C0020608
Disease: Hypodontia
48 0.790 0.160 X 69616488 stop gained C/A snv 0.700 0
Peg-shaped teeth
CUI: C0266037
Disease: Peg-shaped teeth
2 0.790 0.160 X 69616488 stop gained C/A snv 0.700 0
Periorbital hyperpigmentation
CUI: C1844606
Disease: Periorbital hyperpigmentation
2 0.790 0.160 X 69616488 stop gained C/A snv 0.700 0
Sparse and thin eyebrow
CUI: C4282407
Disease: Sparse and thin eyebrow
8 0.790 0.160 X 69616488 stop gained C/A snv 0.700 0
Sparse eyelashes
CUI: C1843300
Disease: Sparse eyelashes
4 0.790 0.160 X 69616488 stop gained C/A snv 0.700 0
Thin skin
CUI: C0423757
Disease: Thin skin
4 0.790 0.160 X 69616488 stop gained C/A snv 0.700 0