GINS1, GINS complex subunit 1, 9837

N. diseases: 40; N. variants: 3
Disease: IMMUNODEFICIENCY 55 ×
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: rs137901350
rs137901350 		1.000 20 25418112 missense variant C/T snv 8.9E-04 6.5E-04
CUI: C4693356
Disease: IMMUNODEFICIENCY 55
IMMUNODEFICIENCY 55 		0.800 1.000 1 2017 2017
dbSNP: rs376610445
rs376610445 		1.000 20 25441709 missense variant G/A snv 8.6E-06 7.0E-06
CUI: C4693356
Disease: IMMUNODEFICIENCY 55
IMMUNODEFICIENCY 55 		0.800 1.000 1 2017 2017
dbSNP: rs974304393
rs974304393 		1.000 20 25407773 5 prime UTR variant C/G snv 4.1E-06
CUI: C4693356
Disease: IMMUNODEFICIENCY 55
IMMUNODEFICIENCY 55 		0.700 0