rs147682682, MITF

N. diseases: 4
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.
Delayed speech and language development
CUI: C0454644
Disease: Delayed speech and language development
192 1.000 0.040 3 69956496 stop gained G/A;T snv 1.2E-05 1.4E-05 0.700 0
hearing impairment
CUI: C1384666
Disease: hearing impairment
337 1.000 0.040 3 69956496 stop gained G/A;T snv 1.2E-05 1.4E-05 0.700 0
Heterochromia iridis
CUI: C0423318
Disease: Heterochromia iridis
10 1.000 0.040 3 69956496 stop gained G/A;T snv 1.2E-05 1.4E-05 0.700 0
WAARDENBURG SYNDROME, TYPE IIA
CUI: C1860339
Disease: WAARDENBURG SYNDROME, TYPE IIA
26 1.000 0.040 3 69956496 stop gained G/A;T snv 1.2E-05 1.4E-05 0.700 0