rs773722162, CELSR2

N. diseases: 5
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.
Dysmorphic facies
CUI: C0424503
Disease: Dysmorphic facies
106 0.882 0.120 1 109272915 inframe insertion -/AGAAGAGGAGGA delins 5.2E-05 4.2E-05 0.700 0
Hamartoma of tongue
CUI: C0431565
Disease: Hamartoma of tongue
1 0.882 0.120 1 109272915 inframe insertion -/AGAAGAGGAGGA delins 5.2E-05 4.2E-05 0.700 0
Median cleft lip
CUI: C1850256
Disease: Median cleft lip
2 0.882 0.120 1 109272915 inframe insertion -/AGAAGAGGAGGA delins 5.2E-05 4.2E-05 0.700 0
Micropenis
CUI: C4551492
Disease: Micropenis
21 0.882 0.120 1 109272915 inframe insertion -/AGAAGAGGAGGA delins 5.2E-05 4.2E-05 0.700 0
Polysyndactyly
CUI: C0265553
Disease: Polysyndactyly
1 0.882 0.120 1 109272915 inframe insertion -/AGAAGAGGAGGA delins 5.2E-05 4.2E-05 0.700 0