rs606231450, BRF1

N. diseases: 7
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.
CEREBELLOFACIODENTAL SYNDROME
CUI: C4015495
Disease: CEREBELLOFACIODENTAL SYNDROME
4 0.882 0.160 14 105226674 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.800 1.000 1 2015 2015
Cerebellar Hypoplasia
CUI: C0266470
Disease: Cerebellar Hypoplasia
26 0.882 0.160 14 105226674 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.700 0
Microcephaly (physical finding)
CUI: C4551563
Disease: Microcephaly (physical finding)
246 0.882 0.160 14 105226674 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.700 0
Poor school performance
CUI: C1843367
Disease: Poor school performance
411 0.882 0.160 14 105226674 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.700 0
Prominent incisors
CUI: C3279422
Disease: Prominent incisors
4 0.882 0.160 14 105226674 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.700 0
Short stature
CUI: C0349588
Disease: Short stature
292 0.882 0.160 14 105226674 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.700 0
Taurodontism
CUI: C0266039
Disease: Taurodontism
10 0.882 0.160 14 105226674 missense variant G/C;T snv 4.0E-06; 4.0E-06 0.700 0