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
RS1554701103 XPA Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum
RS1554701129 XPA Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1554701139 XPA Health Risk Pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1554701144 XPA Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1554701152 XPA Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1554701447 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1554701458 TEK Health Risk Conflicting classifications of pathogenicity Abnormal cardiovascular system morphology, Segmental undergrowth associated with venous malformation without capillary component
RS1554701472 DOCK8 Health Risk Likely pathogenic —
RS1554701478 XPA Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1554701481 XPA Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1554701488 XPA Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1554701520 XPA Health Risk Pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1554701532 XPA Health Risk Pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1554701540 XPA Health Risk Pathogenic/Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum
RS1554701563 XPA Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1554701881 TGFBR1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1554701911 TGFBR1 Health Risk Pathogenic Loeys-Dietz syndrome, Loeys-Dietz syndrome
RS1554701914 TGFBR1 Health Risk Likely pathogenic Loeys-Dietz syndrome 1, Loeys-Dietz syndrome 1
RS1554701930 TGFBR1 Health Risk Conflicting classifications of pathogenicity Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1554701931 XPA Health Risk Pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1554701945 XPA Health Risk Pathogenic —
RS1554701985 XPA Health Risk Likely pathogenic —
RS1554702009 PTCH1 Health Risk Pathogenic Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1554702032 PTCH1 Health Risk Likely pathogenic —
RS1554702142 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS1554702186 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1554702262 TGFBR1 Health Risk Pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1554702325 ALDOB Health Risk Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS1554702328 ALDOB Health Risk Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS1554702353 ALDOB Health Risk Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS1554702425 ALDOB Health Risk Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS1554702433 ALDOB Health Risk Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS1554702442 ALDOB Health Risk Pathogenic Hereditary fructosuria, Hereditary fructosuria
RS1554702463 TGFBR1 Health Risk Likely pathogenic Familial thoracic aortic aneurysm and aortic dissection, Familial thoracic aortic aneurysm and aortic dissection
RS1554702597 XPA Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1554702608 XPA Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1554702629 XPA Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1554702654 KAT6A Health Risk Likely pathogenic —
RS1554702666 ALDOB Health Risk Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS1554702689 PLEC Health Risk Pathogenic/Likely pathogenic Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS1554702880 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS1554702890 ALDOB Health Risk Likely pathogenic Hereditary fructosuria, Hereditary fructosuria
RS1554703061 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS1554703119 XPA Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1554703183 XPA Health Risk Likely pathogenic Xeroderma pigmentosum group A, Xeroderma pigmentosum group A
RS1554703226 ZNF462 Health Risk Pathogenic —
RS1554703536 ZNF462 Health Risk Pathogenic —
RS1554703613 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS1554703831 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS1554703851 ELP1 Health Risk Pathogenic Familial dysautonomia, Familial dysautonomia
RS1554703874 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS1554703907 ELP1 Health Risk Likely pathogenic Familial dysautonomia, Familial dysautonomia
RS1554704601 MPDZ Health Risk Pathogenic/Likely pathogenic —
RS1554705383 BICD2 Health Risk Pathogenic Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
RS1554705485 BICD2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS1554705693 HSD17B3 Health Risk Pathogenic Pseudohermaphroditism, Pseudohermaphroditism
RS1554705813 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex with nail dystrophy
RS1554706114 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554706146 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex with nail dystrophy
RS1554706149 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554706285 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554706429 SPTLC1 Health Risk Pathogenic Hereditary sensory and autonomic neuropathy type 1, Hereditary sensory and autonomic neuropathy type 1
RS1554706430 SPTLC1 Health Risk Conflicting classifications of pathogenicity Hereditary sensory and autonomic neuropathy type 1, Inborn genetic diseases
RS1554706662 VPS13B Health Risk Likely pathogenic Cohen syndrome, Cohen syndrome
RS1554707622 SIGMAR1 Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 16, Amyotrophic lateral sclerosis type 16
RS1554707637 ALG2 Health Risk Conflicting classifications of pathogenicity ALG2-congenital disorder of glycosylation, Congenital myasthenic syndrome 14
RS1554707680 SIGMAR1 Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 16, Autosomal recessive distal spinal muscular atrophy 2
RS1554707993 DOCK8 Health Risk Pathogenic Combined immunodeficiency due to DOCK8 deficiency, DOCK8-related disorder
RS1554708417 AUH Health Risk Likely pathogenic —
RS1554708626 PTCH1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1554708751 PTCH1 Health Risk Pathogenic Gorlin syndrome, Basal cell nevus syndrome 1
RS1554708753 PTCH1 Health Risk Pathogenic Gorlin syndrome, PTCH1-related disorder
RS1554708760 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1554708771 PTCH1 Health Risk Pathogenic Gorlin syndrome, Hereditary cancer-predisposing syndrome
RS1554708787 PTCH1 Health Risk Pathogenic Inborn genetic diseases, Gorlin syndrome
RS1554708795 PTCH1 Health Risk Pathogenic Gorlin syndrome, Gorlin syndrome
RS1554708887 DOCK8 Health Risk Conflicting classifications of pathogenicity Combined immunodeficiency due to DOCK8 deficiency, DOCK8-related disorder
RS1554709110 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS1554709139 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS1554709146 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS1554709148 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS1554709151 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS1554709280 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS1554709342 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS1554709359 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, GALT-related disorder
RS1554709366 GALT Health Risk Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS1554709447 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia
RS1554709502 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS1554709516 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS1554709654 NFIB Health Risk Pathogenic/Likely pathogenic Macrocephaly, Intellectual disability
RS1554709662 NFIB Health Risk Pathogenic/Likely pathogenic Macrocephaly, Intellectual disability
RS1554709677 CA2 Health Risk Pathogenic Osteopetrosis with renal tubular acidosis, Osteopetrosis with renal tubular acidosis
RS1554709683 NFIB Health Risk Pathogenic Macrocephaly, Intellectual disability
RS1554709792 NFIB Health Risk Pathogenic Intellectual disability, Macrocephaly
RS1554709875 SYNE1 Health Risk Pathogenic —
RS1554710552 PLEC Health Risk Conflicting classifications of pathogenicity Autosomal recessive limb-girdle muscular dystrophy type 2Q, Epidermolysis bullosa simplex 5B
RS1554711139 PLEC Health Risk Likely pathogenic Abnormality of the musculature, Abnormality of the musculature
RS1554713054 INVS Health Risk Conflicting classifications of pathogenicity Nephronophthisis, Nephronophthisis
RS1554713693 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex 5C, with pyloric atresia
RS1554714092 ABCA1 Health Risk Pathogenic Tangier disease, Tangier disease
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