NIPBL, NIPBL cohesin loading factor, 25836

N. diseases: 169; N. variants: 268
Source: INFERRED ×
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: rs11288989
rs11288989
5 37043527 intron variant AAA/-;A;AA;AAAA;AAAAA delins
CUI: C0005910
Disease: Body Weight
Body Weight
Pathological Conditions, Signs and Symptoms 0.700 1.000 1 2017 2017