rs1555652383, BPTF

N. diseases: 13
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.
Broad hallux
CUI: C1867131
Disease: Broad hallux
14 0.807 0.160 17 67912720 frameshift variant TG/- delins 0.700 1.000 1 2017 2017
Broad lateral eyebrow
CUI: C1837733
Disease: Broad lateral eyebrow
2 0.807 0.160 17 67912720 frameshift variant TG/- delins 0.700 1.000 1 2017 2017
Exotropia
CUI: C0015310
Disease: Exotropia
23 0.807 0.160 17 67912720 frameshift variant TG/- delins 0.700 1.000 1 2017 2017
Expressive language delay
CUI: C0454641
Disease: Expressive language delay
25 0.807 0.160 17 67912720 frameshift variant TG/- delins 0.700 1.000 1 2017 2017
Fifth finger distal phalanx clinodactyly
CUI: C4025139
Disease: Fifth finger distal phalanx clinodactyly
1 0.807 0.160 17 67912720 frameshift variant TG/- delins 0.700 1.000 1 2017 2017
Flatfoot
CUI: C0016202
Disease: Flatfoot
38 0.807 0.160 17 67912720 frameshift variant TG/- delins 0.700 1.000 1 2017 2017
Global developmental delay
CUI: C0557874
Disease: Global developmental delay
553 0.807 0.160 17 67912720 frameshift variant TG/- delins 0.700 1.000 1 2017 2017
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.807 0.160 17 67912720 frameshift variant TG/- delins 0.700 1.000 1 2017 2017
Secondary microcephaly
CUI: C0431352
Disease: Secondary microcephaly
20 0.807 0.160 17 67912720 frameshift variant TG/- delins 0.700 1.000 1 2017 2017
Severe expressive language delay
CUI: C1851085
Disease: Severe expressive language delay
7 0.807 0.160 17 67912720 frameshift variant TG/- delins 0.700 1.000 1 2017 2017
Severe global developmental delay
CUI: C1837397
Disease: Severe global developmental delay
50 0.807 0.160 17 67912720 frameshift variant TG/- delins 0.700 1.000 1 2017 2017
Underdeveloped nasal alae
CUI: C1834055
Disease: Underdeveloped nasal alae
8 0.807 0.160 17 67912720 frameshift variant TG/- delins 0.700 1.000 1 2017 2017
NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES
CUI: C4540327
Disease: NEURODEVELOPMENTAL DISORDER WITH DYSMORPHIC FACIES AND DISTAL LIMB ANOMALIES
5 0.807 0.160 17 67912720 frameshift variant TG/- delins 0.700 0