SNP Directory

450,817 genetic variants in our database.

All (450,817) Health Risk (400,964) Other (47,777) Drug Response (1,898) Trait (128) Protective (50)
RSID Gene Category Clinical Significance Conditions
RS2107624989 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia 1, Familial hypocalciuric hypercalcemia 1
RS2107625030 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS2107625491 COL7A1 Health Risk Pathogenic —
RS2107626681 COL7A1 Health Risk Pathogenic —
RS2107626695 COL7A1 Health Risk Pathogenic —
RS2107627423 CASR Health Risk Likely pathogenic Familial hypocalciuric hypercalcemia 1, Neonatal severe primary hyperparathyroidism
RS2107627458 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS2107627594 COL7A1 Health Risk Pathogenic —
RS2107627659 CASR Health Risk Pathogenic Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS2107627671 CASR Health Risk Pathogenic Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS2107627809 CASR Health Risk Likely pathogenic Familial hyperparathyroidism or Hypocalciuric hypercalcaemia, Familial hyperparathyroidism or Hypocalciuric hypercalcaemia
RS2107627915 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia 1, Familial hypocalciuric hypercalcemia 1
RS2107628480 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2107628870 LAMB2 Health Risk Pathogenic LAMB2-related infantile-onset nephrotic syndrome, LAMB2-related infantile-onset nephrotic syndrome
RS2107630477 COL7A1 Health Risk Pathogenic —
RS2107631188 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2107631431 COL7A1 Health Risk Likely pathogenic —
RS2107631669 PLXNA1 Health Risk Pathogenic —
RS2107631736 CASR Health Risk Pathogenic/Likely pathogenic —
RS2107631756 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS2107631757 COL7A1 Health Risk Pathogenic —
RS2107631801 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS2107631937 COL7A1 Health Risk Pathogenic Pretibial dystrophic epidermolysis bullosa, Pretibial dystrophic epidermolysis bullosa
RS2107631988 COL7A1 Health Risk Pathogenic/Likely pathogenic Recessive dystrophic epidermolysis bullosa, COL7A1-related disorder
RS2107632018 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2107632061 CASR Health Risk Pathogenic/Likely pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS2107632066 CASR Health Risk Conflicting classifications of pathogenicity Nephrolithiasis/nephrocalcinosis, Familial hypocalciuric hypercalcemia 1
RS2107632158 CASR Health Risk Conflicting classifications of pathogenicity Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS2107632493 COL7A1 Health Risk Pathogenic —
RS2107632517 CASR Health Risk Pathogenic —
RS2107632553 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS2107632563 COL7A1 Health Risk Likely pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2107632620 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS2107632814 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS2107632817 CASR Health Risk Likely pathogenic —
RS2107632822 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS2107632852 COL7A1 Health Risk Pathogenic/Likely pathogenic —
RS2107632860 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS2107633334 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS2107633400 COL7A1 Health Risk Pathogenic COL7A1-related disorder, COL7A1-related disorder
RS2107635006 COL7A1 Health Risk Pathogenic 7 conditions, 7 conditions
RS2107635110 COL7A1 Health Risk Pathogenic —
RS2107635149 COL7A1 Health Risk Pathogenic —
RS2107635603 COL7A1 Health Risk Likely pathogenic —
RS2107636063 LAMB2 Health Risk Likely pathogenic Nephrotic syndrome, Nephrotic syndrome
RS2107636494 COL7A1 Health Risk Likely pathogenic —
RS2107636603 COL7A1 Health Risk Pathogenic Generalized dominant dystrophic epidermolysis bullosa, Generalized dominant dystrophic epidermolysis bullosa
RS2107636606 COL7A1 Health Risk Likely pathogenic Generalized dominant dystrophic epidermolysis bullosa, Generalized dominant dystrophic epidermolysis bullosa
RS2107636803 ACAD9 Health Risk Pathogenic —
RS2107637140 COL7A1 Health Risk Likely pathogenic —
RS2107637340 COL7A1 Health Risk Pathogenic —
RS2107637442 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2107638414 COL7A1 Health Risk Likely pathogenic —
RS2107638542 COL7A1 Health Risk Pathogenic —
RS2107638590 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2107638673 LAMB2 Health Risk Pathogenic/Likely pathogenic LAMB2-related infantile-onset nephrotic syndrome, LAMB2-related infantile-onset nephrotic syndrome
RS2107639217 LAMB2 Health Risk Likely pathogenic Pierson syndrome, Pierson syndrome
RS2107639630 COL7A1 Health Risk Likely pathogenic —
RS2107639823 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2107641650 SEC61A1 Health Risk Pathogenic Hyperuricemic nephropathy, familial juvenile type 4
RS2107641787 COL7A1 Health Risk Pathogenic/Likely pathogenic Recessive dystrophic epidermolysis bullosa, COL7A1-related disorder
RS2107642565 COL7A1 Health Risk Likely pathogenic Generalized dominant dystrophic epidermolysis bullosa, Generalized dominant dystrophic epidermolysis bullosa
RS2107642953 COL7A1 Health Risk Pathogenic/Likely pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2107643014 LAMB2 Health Risk Likely pathogenic Pierson syndrome, Pierson syndrome
RS2107643346 LAMB2 Health Risk Pathogenic Pierson syndrome, LAMB2-related infantile-onset nephrotic syndrome
RS2107643652 COL7A1 Health Risk Likely pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2107643705 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS2107644554 ARHGAP31 Health Risk Likely pathogenic Cerebral palsy, Cerebral palsy
RS2107644932 ILDR1 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 42, Autosomal recessive nonsyndromic hearing loss 42
RS2107645768 LAMB2 Health Risk Likely pathogenic Pierson syndrome, Pierson syndrome
RS2107646414 SETD2 Health Risk Pathogenic —
RS2107648261 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS2107648305 CASR Health Risk Likely pathogenic Familial hypocalciuric hypercalcemia 1, Familial hypocalciuric hypercalcemia 1
RS2107648387 CASR Health Risk Pathogenic Nephrolithiasis/nephrocalcinosis, Nephrolithiasis/nephrocalcinosis
RS2107648492 COL7A1 Health Risk Pathogenic Recessive dystrophic epidermolysis bullosa, Recessive dystrophic epidermolysis bullosa
RS2107648722 ACAD9 Health Risk Pathogenic —
RS2107648799 ACAD9 Health Risk Pathogenic/Likely pathogenic Acyl-CoA dehydrogenase 9 deficiency, Acyl-CoA dehydrogenase 9 deficiency
RS2107649366 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS2107649385 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS2107649406 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS2107649423 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS2107649518 CASR Health Risk Pathogenic Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS2107649591 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS2107649818 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS2107649847 CASR Health Risk Likely pathogenic —
RS2107649885 CASR Health Risk Pathogenic/Likely pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS2107650029 CASR Health Risk Pathogenic Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS2107650046 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia 1, Autosomal dominant hypocalcemia 1
RS2107650135 COL7A1 Health Risk Conflicting classifications of pathogenicity —
RS2107650195 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS2107650280 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS2107650417 CASR Health Risk Pathogenic —
RS2107650472 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS2107650518 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
RS2107650603 CASR Health Risk Pathogenic/Likely pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS2107650629 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia 1
RS2107650645 CASR Health Risk Likely pathogenic Neurodevelopmental disorder, Autosomal dominant hypocalcemia 1
RS2107650671 CASR Health Risk Pathogenic Familial hypocalciuric hypercalcemia, Autosomal dominant hypocalcemia 1
RS2107651058 SETD2 Health Risk Pathogenic Luscan-Lumish syndrome, Luscan-Lumish syndrome
RS2107651172 CASR Health Risk Conflicting classifications of pathogenicity Autosomal dominant hypocalcemia 1, Familial hypocalciuric hypercalcemia
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