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: rs775085213
rs775085213 		1.000 1 110174012 missense variant G/A snv 4.0E-06
CUI: C4225395
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 		0.800 1.000 1 2015 2015
dbSNP: rs375380880
rs375380880 		1.000 1 110198158 missense variant C/G;T snv
CUI: C4225395
Disease: MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 		0.800 0
dbSNP: rs535930
rs535930 		0.882 0.040 1 110181866 intron variant G/A snv 0.48
CUI: C0751676
Disease: Basal Cell Cancer
Basal Cell Cancer 		Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs535930
rs535930 		0.882 0.040 1 110181866 intron variant G/A snv 0.48
CUI: C0206710
Disease: Basal Cell Neoplasm
Basal Cell Neoplasm 		Neoplasms 0.700 1.000 1 2019 2019
dbSNP: rs535930
rs535930 		0.882 0.040 1 110181866 intron variant G/A snv 0.48
CUI: C0007117
Disease: Basal cell carcinoma
Basal cell carcinoma 		Neoplasms 0.700 1.000 1 2019 2019