rs1554438441, CLCN1

N. diseases: 5
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.
Contracture of tendo achilles
CUI: C0410264
Disease: Contracture of tendo achilles
6 0.882 0.040 7 143342006 frameshift variant -/TC delins 0.700 0
Hypoplasia of the maxilla
CUI: C0240310
Disease: Hypoplasia of the maxilla
5 0.882 0.040 7 143342006 frameshift variant -/TC delins 0.700 0
Lumbar hyperlordosis
CUI: C1184923
Disease: Lumbar hyperlordosis
8 0.882 0.040 7 143342006 frameshift variant -/TC delins 0.700 0
Myotonia
CUI: C0027125
Disease: Myotonia
7 0.882 0.040 7 143342006 frameshift variant -/TC delins 0.700 0
Skeletal muscle hypertrophy
CUI: C2265792
Disease: Skeletal muscle hypertrophy
2 0.882 0.040 7 143342006 frameshift variant -/TC delins 0.700 0