Source: UNIPROT

Variant Gene DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Disease Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs121908937
rs121908937
LCT
2 135829593 missense variant C/G snv
CUI: C0268179
Disease: Lactase Deficiency, Congenital
Lactase Deficiency, Congenital 		0.800 1.000 1 2006 2006
dbSNP: rs386833833
rs386833833
LCT
2 135807214 missense variant C/T snv 4.0E-06 7.0E-06
CUI: C0268179
Disease: Lactase Deficiency, Congenital
Lactase Deficiency, Congenital 		0.800 1.000 1 2006 2006