CEP41, centrosomal protein 41, 95681

N. diseases: 69; N. variants: 3
Source: ALL
Variant DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Disease Class Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs7793239
rs7793239
1.000 0.040 7 130394854 3 prime UTR variant T/C snv 0.21 0.23
CUI: C0036341
Disease: Schizophrenia
Schizophrenia
Mental Disorders 0.700 1.000 1 2018 2018
dbSNP: rs140259402
rs140259402
1.000 7 130402686 missense variant C/T snv 1.6E-05 2.8E-05
CUI: C3280899
Disease: JOUBERT SYNDROME 12/15, DIGENIC
JOUBERT SYNDROME 12/15, DIGENIC
0.700 0
dbSNP: rs371812716
rs371812716
1.000 7 130398935 missense variant G/A snv 7.6E-05 3.5E-05
CUI: C3280898
Disease: JOUBERT SYNDROME 9/15, DIGENIC
JOUBERT SYNDROME 9/15, DIGENIC
0.700 0