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
RS2131444517 SETX Health Risk Pathogenic Spinocerebellar ataxia, autosomal recessive
RS2131450364 STXBP1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2131450525 VPS13A Health Risk Likely pathogenic —
RS2131451053 STXBP1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2131451091 STXBP1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2131452462 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131453888 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131453910 ELN Health Risk Pathogenic Supravalvar aortic stenosis, Supravalvar aortic stenosis
RS2131454006 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131454461 ZNF462 Health Risk Likely pathogenic Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS2131454649 STXBP1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 4
RS2131454682 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131454714 VPS13A Health Risk Pathogenic —
RS2131454847 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131455014 VPS13A Health Risk Pathogenic —
RS2131455281 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131456686 ABCA2 Health Risk Likely pathogenic —
RS2131458386 CUBN Health Risk Pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS2131458620 CUBN Health Risk Likely pathogenic Imerslund-Grasbeck syndrome, Imerslund-Grasbeck syndrome
RS2131461009 SETX Health Risk Pathogenic Spinocerebellar ataxia, autosomal recessive
RS2131462357 STXBP1 Health Risk Pathogenic/Likely pathogenic Spastic ataxia, Early-infantile DEE
RS2131462561 GABBR2 Health Risk Pathogenic Epileptic encephalopathy, Epileptic encephalopathy
RS2131462794 ZNF462 Health Risk Pathogenic —
RS2131462829 STXBP1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2131462929 STXBP1 Health Risk Likely pathogenic —
RS2131463306 SETX Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 4, Amyotrophic lateral sclerosis type 4
RS2131463325 SETX Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 4, Amyotrophic lateral sclerosis type 4
RS2131463657 SETX Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 4, Amyotrophic lateral sclerosis type 4
RS2131465180 ZNF462 Health Risk Pathogenic Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS2131469253 STXBP1 Health Risk Pathogenic —
RS2131469592 STXBP1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2131471759 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex 5C, with pyloric atresia
RS2131472407 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS2131472700 STXBP1 Health Risk Likely pathogenic —
RS2131472708 STXBP1 Health Risk Likely pathogenic —
RS2131472862 FBP1 Health Risk Conflicting classifications of pathogenicity Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS2131473052 STXBP1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 4
RS2131473842 ZNF462 Health Risk Pathogenic —
RS2131480409 IFT74 Health Risk Pathogenic Joubert syndrome 40, Joubert syndrome 40
RS2131481227 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS2131481245 STXBP1 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS2131481488 STXBP1 Health Risk Pathogenic/Likely pathogenic Developmental and epileptic encephalopathy, 4
RS2131481623 STXBP1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 4
RS2131481685 STXBP1 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2131481907 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS2131482893 GATA3 Health Risk Likely pathogenic Hearing impairment, Hearing impairment
RS2131485407 SHOC1 Health Risk Pathogenic Non-obstructive azoospermia, Non-obstructive azoospermia
RS2131486442 FBP1 Health Risk Pathogenic Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS2131488650 GATA3 Health Risk Pathogenic Hypoparathyroidism, deafness
RS2131488754 OPTN Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 12, Glaucoma 1
RS2131488795 STXBP1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2131488835 ZNF462 Health Risk Pathogenic Weiss-Kruszka syndrome, Weiss-Kruszka syndrome
RS2131488863 GATA3 Health Risk Pathogenic Hypoparathyroidism, deafness
RS2131488897 STXBP1 Health Risk Likely pathogenic —
RS2131488944 OPTN Health Risk Likely pathogenic Amyotrophic lateral sclerosis type 12, Amyotrophic lateral sclerosis type 12
RS2131488953 GATA3 Health Risk Pathogenic Hypoparathyroidism, deafness
RS2131488963 STXBP1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2131489143 STXBP1 Health Risk Likely pathogenic —
RS2131489331 GATA3 Health Risk Pathogenic —
RS2131491388 GATA3 Health Risk Pathogenic —
RS2131491404 GATA3 Health Risk Pathogenic Hypoparathyroidism, deafness
RS2131493453 GDAP1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A
RS2131493519 GDAP1 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4A, Charcot-Marie-Tooth disease type 4A
RS2131497207 STXBP1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2131497242 STXBP1 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2131497300 STXBP1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 4
RS2131497737 KCNT1 Health Risk Pathogenic/Likely pathogenic KCNT1-related channelopathy, Developmental and epileptic encephalopathy
RS2131499119 VPS13A Health Risk Pathogenic —
RS2131499515 BICD2 Health Risk Pathogenic/Likely pathogenic Spinal muscular atrophy, lower extremity-predominant
RS2131500277 GATA3 Health Risk Pathogenic Hypoparathyroidism, deafness
RS2131500523 GATA3 Health Risk Pathogenic —
RS2131500548 GATA3 Health Risk Likely pathogenic Hypoparathyroidism, deafness
RS2131500576 BICD2 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2131500581 GATA3 Health Risk Likely pathogenic —
RS2131500629 GATA3 Health Risk Pathogenic —
RS2131500836 GATA3 Health Risk Likely pathogenic Hypoparathyroidism, deafness
RS2131501072 STXBP1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 4
RS2131501111 GATA3 Health Risk Likely pathogenic Inborn genetic diseases, Neoplasm
RS2131501118 GATA3 Health Risk Pathogenic/Likely pathogenic Hypoparathyroidism, deafness
RS2131501178 GATA3 Health Risk Pathogenic Hypoparathyroidism, deafness
RS2131501460 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS2131501481 STXBP1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 4
RS2131504104 BICD2 Health Risk Likely pathogenic Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures, Autosomal dominant childhood-onset proximal spinal muscular atrophy with contractures
RS2131504115 BICD2 Health Risk Likely pathogenic —
RS2131505194 VPS13A Health Risk Pathogenic —
RS2131505712 VPS13A Health Risk Pathogenic —
RS2131506184 VPS13A Health Risk Likely pathogenic —
RS2131507600 VPS13A Health Risk Pathogenic —
RS2131508948 HACD1 Health Risk Likely pathogenic —
RS2131509216 FBP1 Health Risk Pathogenic Fructose-biphosphatase deficiency, Fructose-biphosphatase deficiency
RS2131510168 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS2131510237 STXBP1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 4
RS2131510638 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131510675 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131511337 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131511467 KRIT1 Health Risk Pathogenic —
RS2131511487 GATA3 Health Risk Likely pathogenic —
RS2131511647 GATA3 Health Risk Pathogenic Hypoparathyroidism, deafness
RS2131511667 KRIT1 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2131511714 GATA3 Health Risk Pathogenic Hypoparathyroidism, deafness
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