FOXP1, forkhead box P1, 27086

N. diseases: 21; N. variants: 26
Source: CLINVAR ×
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: rs1553709881
rs1553709881
1.000 3 71046984 stop gained G/A snv
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia
0.700 0
dbSNP: rs532329866
rs532329866
1.000 3 71198338 missense variant G/A snv 2.4E-04 1.5E-04
CUI: C1840379
Disease: Cerebellar vermis hypoplasia
Cerebellar vermis hypoplasia
0.700 0