RAD21, RAD21 cohesin complex component, 5885

N. diseases: 192; N. variants: 19
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: rs1301282588
rs1301282588
1.000 0.040 8 116852070 missense variant G/A snv 4.0E-06
CUI: C1853235
Disease: Sclerocornea
Sclerocornea
Eye Diseases 0.010 1.000 1 2019 2019