rs1291061962, CLCN7

N. diseases: 3
Source: ALL
Disease N. SNPs d DSI v DPI v Chr Position Consequence Alleles Class AFEXOME AFGENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
Osteopetrosis Autosomal Dominant Type 2
CUI: C3179239
Disease: Osteopetrosis Autosomal Dominant Type 2
7 0.882 0.040 16 1456173 missense variant G/A snv 5.5E-06 0.700 1.000 5 2001 2016
Autosomal Recessive Osteopetrosis
CUI: C4272578
Disease: Autosomal Recessive Osteopetrosis
3 0.882 0.040 16 1456173 missense variant G/A snv 5.5E-06 0.010 1.000 1 2012 2012
Osteopetrosis
CUI: C0029454
Disease: Osteopetrosis
5 0.882 0.040 16 1456173 missense variant G/A snv 5.5E-06 0.010 1.000 1 2019 2019