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
RS2514874118 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2514884822 SMARCA4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2514886778 SMARCA4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2514887105 SMARCA4 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2514890513 GZF1 Health Risk Pathogenic —
RS2514909662 DYM Health Risk Likely pathogenic Dyggve-Melchior-Clausen syndrome, Dyggve-Melchior-Clausen syndrome
RS2514930352 CACNA1C Health Risk Pathogenic —
RS2515003359 IL12RB1 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS2515027089 SPTBN4 Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, neuropathy
RS2515037913 MBOAT7 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 57
RS2515039611 SPTBN4 Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, neuropathy
RS2515045138 IL12RB1 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS2515063089 SMARCA4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2515069712 NAPB Health Risk Pathogenic Developmental and epileptic encephalopathy-107, Developmental and epileptic encephalopathy-107
RS2515114359 VPS16 Health Risk Likely pathogenic Dystonia 30, Dystonia 30
RS2515115443 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2515118170 SMARCA4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2515137975 VPS16 Health Risk Likely pathogenic Dystonia 30, Dystonia 30
RS2515145626 MBOAT7 Health Risk Pathogenic —
RS2515170802 ACTN4 Health Risk Conflicting classifications of pathogenicity Focal segmental glomerulosclerosis 1, Focal segmental glomerulosclerosis 1
RS2515172714 AHCY Health Risk Pathogenic Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
RS2515176041 SPTBN4 Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, neuropathy
RS2515176184 AHCY Health Risk Pathogenic Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
RS2515178934 MBOAT7 Health Risk Likely pathogenic MBOAT7-related disorder, MBOAT7-related disorder
RS2515180222 AHCY Health Risk Likely pathogenic Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
RS2515181224 MBOAT7 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2515182138 PLCB1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 12
RS2515193918 ACTN4 Health Risk Pathogenic —
RS2515200645 ACTN4 Health Risk Likely pathogenic Focal segmental glomerulosclerosis 1, Focal segmental glomerulosclerosis 1
RS2515200704 ACTN4 Health Risk Likely pathogenic ACTN4-related disorder, ACTN4-related disorder
RS2515200807 ACTN4 Health Risk Likely pathogenic Focal segmental glomerulosclerosis 1, Focal segmental glomerulosclerosis 1
RS2515204157 THBD Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2515204321 AHCY Health Risk Pathogenic Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase
RS2515204417 SMARCA4 Health Risk Likely pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2515204602 ERGIC3 Health Risk Likely pathogenic Developmental disorder, Developmental disorder
RS2515208207 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2515210564 ACTN4 Health Risk Likely pathogenic ACTN4-related disorder, ACTN4-related disorder
RS2515216801 MGME1 Health Risk Pathogenic —
RS2515217064 SPTBN4 Health Risk Pathogenic Neurodevelopmental disorder with hypotonia, neuropathy
RS2515217377 SAMHD1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 5, Chilblain lupus 2
RS2515217684 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS2515217834 ACTN4 Health Risk Likely pathogenic Focal segmental glomerulosclerosis 1, Focal segmental glomerulosclerosis 1
RS2515218976 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS2515219038 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS2515219215 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS2515220138 RIN2 Health Risk Pathogenic —
RS2515221970 MGME1 Health Risk Pathogenic —
RS2515227348 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS2515228923 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS2515228997 SPTBN4 Health Risk Likely pathogenic SPTBN4-related disorder, SPTBN4-related disorder
RS2515229076 SAMHD1 Health Risk Likely pathogenic Aicardi Goutieres syndrome, Aicardi Goutieres syndrome
RS2515229165 SAMHD1 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS2515236081 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS2515236164 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS2515236180 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS2515236275 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS2515236292 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS2515236840 SPTBN4 Health Risk Likely pathogenic Neurodevelopmental disorder with hypotonia, neuropathy
RS2515237951 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS2515240742 PROKR2 Health Risk Pathogenic —
RS2515242437 KPTN Health Risk Pathogenic Macrocephaly-developmental delay syndrome, Macrocephaly-developmental delay syndrome
RS2515244156 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS2515244334 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS2515244359 SAMHD1 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS2515244609 SAMHD1 Health Risk Pathogenic/Likely pathogenic Aicardi-Goutieres syndrome 5, Chilblain lupus 2
RS2515244774 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS2515247150 PLCB1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 12
RS2515247402 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS2515254153 SAMHD1 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS2515258417 SAMHD1 Health Risk Likely pathogenic SAMHD1-related disorder, SAMHD1-related disorder
RS2515264064 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS2515264339 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS2515264387 SAMHD1 Health Risk Likely pathogenic Inborn genetic diseases, Aicardi-Goutieres syndrome 5
RS2515272357 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS2515277441 PLCB1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 12
RS2515280406 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2515281114 PLCB1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 12
RS2515285700 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2515286035 SAMHD1 Health Risk Pathogenic/Likely pathogenic SAMHD1-related disorder, Aicardi-Goutieres syndrome 5
RS2515286349 SAMHD1 Health Risk Pathogenic Aicardi-Goutieres syndrome 5, Aicardi-Goutieres syndrome 5
RS2515286894 PLCB1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 12
RS2515299378 PLCB1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 12
RS2515320719 SMARCA4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Rhabdoid tumor predisposition syndrome 2
RS2515326219 PLCB1 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 12
RS2515343230 CST3 Health Risk Conflicting classifications of pathogenicity Hereditary cerebral amyloid angiopathy, Icelandic type
RS2515347436 PLCB1 Health Risk Pathogenic Developmental and epileptic encephalopathy, 12
RS2515347595 LTBP4 Health Risk Pathogenic —
RS2515347783 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2515349166 SMARCA4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2515355393 IL12RB1 Health Risk Pathogenic Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency, Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
RS2515356007 SMARCA4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2515356493 LTBP4 Health Risk Likely pathogenic —
RS2515358792 LTBP4 Health Risk Likely pathogenic —
RS2515360019 LTBP4 Health Risk Likely pathogenic —
RS2515360712 LTBP4 Health Risk Pathogenic —
RS2515374018 LTBP4 Health Risk Pathogenic —
RS2515377150 LTBP4 Health Risk Conflicting classifications of pathogenicity LTBP4-related disorder, Inborn genetic diseases
RS2515377377 LTBP4 Health Risk Conflicting classifications of pathogenicity LTBP4-related disorder, Inborn genetic diseases
RS2515384166 LTBP4 Health Risk Pathogenic —
RS2515386007 LTBP4 Health Risk Likely pathogenic —
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