HELLS, helicase, lymphoid specific, 3070

N. diseases: 84; N. variants: 7
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4 ×
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: rs879253733
rs879253733 		1.000 10 94594702 missense variant A/G snv
CUI: C4310798
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4 		0.800 1.000 1 2015 2015
dbSNP: rs140316223
rs140316223 		1.000 10 94562729 splice donor variant T/A snv 8.3E-06
CUI: C4310798
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4 		0.700 0
dbSNP: rs879253734
rs879253734 		1.000 10 94596891 frameshift variant GTCT/- delins
CUI: C4310798
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4 		0.700 0
dbSNP: rs879253735
rs879253735 		1.000 10 94574092 stop gained A/T snv
CUI: C4310798
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4 		0.700 0
dbSNP: rs879253736
rs879253736 		1.000 10 94562813 stop gained -/TGAGGAAA delins
CUI: C4310798
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4 		0.700 0
dbSNP: rs879253737
rs879253737 		1.000 10 94597083 inframe deletion GTT/- delins
CUI: C4310798
Disease: IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4
IMMUNODEFICIENCY-CENTROMERIC INSTABILITY-FACIAL ANOMALIES SYNDROME 4 		0.700 0