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
RS2132277715 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2132277720 PTEN Health Risk Pathogenic Macrocephaly-autism syndrome, Macrocephaly-autism syndrome
RS2132282249 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2132282499 PTEN Health Risk Likely pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2132282639 PTEN Health Risk Pathogenic —
RS2132282693 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2132282720 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2132283188 PTEN Health Risk Likely pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2132283300 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Neoplasm
RS2132283419 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2132283471 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2132283619 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Macrocephaly-autism syndrome
RS2132288547 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS2132289111 PTEN Health Risk Likely pathogenic Cowden syndrome 1, Cowden syndrome 1
RS2132289617 SPAG1 Health Risk Pathogenic Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28
RS2132289747 PTEN Health Risk Pathogenic Hemimegalencephaly, Hemimegalencephaly
RS2132289978 PTEN Health Risk Likely pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2132289992 PTEN Health Risk Likely pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2132290171 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS2132295199 TSC1 Health Risk Conflicting classifications of pathogenicity Tuberous sclerosis 1, Hereditary cancer-predisposing syndrome
RS2132296500 ANK3 Health Risk Conflicting classifications of pathogenicity See cases, See cases
RS2132297010 TSC1 Health Risk Pathogenic Tuberous sclerosis 1, Tuberous sclerosis 1
RS2132308307 WAC Health Risk Pathogenic —
RS2132320442 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS2132322943 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS2132323906 SIGMAR1 Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 16, Amyotrophic lateral sclerosis type 16
RS2132323982 ELN Health Risk Conflicting classifications of pathogenicity Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS2132329744 SIGMAR1 Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 16, Autosomal recessive distal spinal muscular atrophy 2
RS2132341442 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2132341560 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2132341621 GALT Health Risk Conflicting classifications of pathogenicity —
RS2132341744 GALT Health Risk Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Galactosemia
RS2132342518 GALT Health Risk Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2132343017 GALT Health Risk Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2132343082 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2132343638 GALT Health Risk Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2132343692 GALT Health Risk Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2132343699 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2132344159 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2132344172 GALT Health Risk Conflicting classifications of pathogenicity Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2132344222 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2132344327 GALT Health Risk Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2132344399 GALT Health Risk Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2132344913 GALT Health Risk Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2132345023 GALT Health Risk Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2132345163 GALT Health Risk Pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2132345349 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2132346162 GALT Health Risk Likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase, Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase
RS2132347847 MICU1 Health Risk Pathogenic —
RS2132357300 WHRN Health Risk Pathogenic —
RS2132358279 CDH23 Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 12, Autosomal recessive nonsyndromic hearing loss 12
RS2132358353 CDH23 Health Risk Pathogenic —
RS2132358732 CDH23 Health Risk Pathogenic —
RS2132359280 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2132363722 LDB3 Health Risk Pathogenic Myofibrillar myopathy 4, Myofibrillar myopathy 4
RS2132363967 LDB3 Health Risk Pathogenic Myofibrillar myopathy 4, Myofibrillar myopathy 4
RS2132376874 WHRN Health Risk Pathogenic —
RS2132390446 GLE1 Health Risk Pathogenic —
RS2132393459 PITRM1 Health Risk Pathogenic Infantile onset spinocerebellar ataxia, Infantile onset spinocerebellar ataxia
RS2132400338 CDH23 Health Risk Likely pathogenic Pituitary adenoma 5, multiple types
RS2132405090 GLE1 Health Risk Pathogenic —
RS2132424384 PAX5 Health Risk Likely pathogenic Neurodevelopmental disorder, Leukemia
RS2132430052 GLE1 Health Risk Pathogenic —
RS2132430609 GLE1 Health Risk Likely pathogenic Lethal congenital contracture syndrome 1, Lethal arthrogryposis-anterior horn cell disease syndrome
RS2132430658 GLE1 Health Risk Likely pathogenic —
RS2132442885 SPAG1 Health Risk Pathogenic Primary ciliary dyskinesia 28, Primary ciliary dyskinesia 28
RS2132443966 MICU1 Health Risk Pathogenic —
RS2132444081 MICU1 Health Risk Pathogenic —
RS2132444527 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS2132444703 STXBP1 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 4
RS2132444862 STXBP1 Health Risk Likely pathogenic —
RS2132453775 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2132453991 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2132454722 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2132454812 GLE1 Health Risk Likely pathogenic —
RS2132455125 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2132455136 COL5A1 Health Risk Pathogenic Ehlers-Danlos syndrome, classic type
RS2132455321 GLE1 Health Risk Pathogenic —
RS2132457005 GLE1 Health Risk Pathogenic —
RS2132458311 GLE1 Health Risk Pathogenic —
RS2132459332 GLE1 Health Risk Pathogenic —
RS2132460743 STXBP1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2132460935 STXBP1 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2132461012 STXBP1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2132465004 GLE1 Health Risk Pathogenic —
RS2132465337 GLE1 Health Risk Pathogenic —
RS2132465911 GLE1 Health Risk Pathogenic —
RS2132466105 GLE1 Health Risk Likely pathogenic —
RS2132470416 PAX5 Health Risk Likely pathogenic Acute lymphoid leukemia, Acute lymphoid leukemia
RS2132470584 PAX5 Health Risk Likely pathogenic Acute lymphoid leukemia, Acute lymphoid leukemia
RS2132472428 PAX5 Health Risk Conflicting classifications of pathogenicity Leukemia, acute lymphoblastic
RS2132472434 GLE1 Health Risk Likely pathogenic —
RS2132472594 GLE1 Health Risk Pathogenic —
RS2132472743 GLE1 Health Risk Pathogenic —
RS2132472757 GLE1 Health Risk Pathogenic —
RS2132474184 GLE1 Health Risk Pathogenic —
RS2132474290 GLE1 Health Risk Pathogenic —
RS2132474364 GLE1 Health Risk Likely pathogenic —
RS2132474852 PRF1 Health Risk Likely pathogenic Autoinflammatory syndrome, Autoinflammatory syndrome
RS2132475562 PRF1 Health Risk Likely pathogenic Familial hemophagocytic lymphohistiocytosis, Familial hemophagocytic lymphohistiocytosis
« Prev 1 ... 1748 1749 1750 1751 1752 1753 1754 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →