ERCC6L2, ERCC excision repair 6 like 2, 375748

N. diseases: 23; N. variants: 8
Disease: Bone marrow failure syndrome 2 ×
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: rs147948835
rs147948835 		1.000 9 95955996 stop gained C/T snv 1.6E-04 2.2E-04
CUI: C3810350
Disease: Bone marrow failure syndrome 2
Bone marrow failure syndrome 2 		0.700 0
dbSNP: rs886037662
rs886037662 		1.000 9 95921217 frameshift variant AACA/- delins 7.0E-06
CUI: C3810350
Disease: Bone marrow failure syndrome 2
Bone marrow failure syndrome 2 		0.700 0