rs104893689, CASR

N. diseases: 10
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.
Hypocalciuric hypercalcemia, familial, type 1
CUI: C0342637
Disease: Hypocalciuric hypercalcemia, familial, type 1
58 0.790 0.200 3 122261589 missense variant G/A;C snv 0.810 1.000 36 1976 2016
HYPERPARATHYROIDISM, NEONATAL SEVERE
CUI: C1832615
Disease: HYPERPARATHYROIDISM, NEONATAL SEVERE
14 0.790 0.200 3 122261589 missense variant G/A;C snv 0.720 1.000 2 2016 2019
Hypoparathyroidism - autosomal dominant
CUI: C0342345
Disease: Hypoparathyroidism - autosomal dominant
44 0.790 0.200 3 122261589 missense variant G/A;C snv 0.700 1.000 13 1993 2015
Feeding intolerance
CUI: C1820738
Disease: Feeding intolerance
1 0.790 0.200 3 122261589 missense variant G/A;C snv 0.700 1.000 4 1976 2004
Hypercalcemia
CUI: C0020437
Disease: Hypercalcemia
9 0.790 0.200 3 122261589 missense variant G/A;C snv 0.700 1.000 4 1976 2004
Irritable Mood
CUI: C0022107
Disease: Irritable Mood
1 0.790 0.200 3 122261589 missense variant G/A;C snv 0.700 1.000 4 1976 2004
Single umbilical artery
CUI: C1384670
Disease: Single umbilical artery
5 0.790 0.200 3 122261589 missense variant G/A;C snv 0.700 1.000 4 1976 2004
Vomiting
CUI: C0042963
Disease: Vomiting
23 0.790 0.200 3 122261589 missense variant G/A;C snv 0.700 1.000 4 1976 2004
Hyperparathyroidism
CUI: C0020502
Disease: Hyperparathyroidism
14 0.790 0.200 3 122261589 missense variant G/A;C snv 0.010 1.000 1 2019 2019
Neonatal hyperparathyroidism
CUI: C0345406
Disease: Neonatal hyperparathyroidism
3 0.790 0.200 3 122261589 missense variant G/A;C snv 0.010 1.000 1 2011 2011