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
RS2104308495 TMEM127 Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS2104308592 TMEM127 Health Risk Pathogenic Hereditary pheochromocytoma and paraganglioma, Hereditary pheochromocytoma and paraganglioma
RS2104310469 MSH6 Health Risk Pathogenic Endometrial carcinoma, Lynch syndrome 5
RS2104316983 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2104317288 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2104317612 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2104318953 MSH6 Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS2104321566 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2104329814 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS2104329942 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2104330278 MSH6 Health Risk Likely pathogenic Lynch syndrome 5, Hereditary nonpolyposis colorectal neoplasms
RS2104330661 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2104331064 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2104333951 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2104334088 MSH6 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 5
RS2104334690 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2104334736 MSH2 Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS2104335088 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS2104335533 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS2104337509 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2104337976 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2104338716 MSH2 Health Risk Pathogenic/Likely pathogenic Lynch syndrome 1, Hereditary cancer-predisposing syndrome
RS2104339508 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2104339867 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2104340311 SLC5A7 Health Risk Likely pathogenic Neuronopathy, distal hereditary motor
RS2104340466 POU3F3 Health Risk Pathogenic/Likely pathogenic Snijders blok-fisher syndrome, Snijders blok-fisher syndrome
RS2104340694 POU3F3 Health Risk Pathogenic Snijders blok-fisher syndrome, Snijders blok-fisher syndrome
RS2104340954 POU3F3 Health Risk Pathogenic Snijders blok-fisher syndrome, Snijders blok-fisher syndrome
RS2104340970 POU3F3 Health Risk Pathogenic Snijders blok-fisher syndrome, Snijders blok-fisher syndrome
RS2104340974 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS2104340988 POU3F3 Health Risk Likely pathogenic Snijders blok-fisher syndrome, Snijders blok-fisher syndrome
RS2104341000 POU3F3 Health Risk Likely pathogenic Snijders blok-fisher syndrome, Snijders blok-fisher syndrome
RS2104341046 POU3F3 Health Risk Pathogenic Snijders blok-fisher syndrome, Snijders blok-fisher syndrome
RS2104341097 POU3F3 Health Risk Likely pathogenic Snijders blok-fisher syndrome, Snijders blok-fisher syndrome
RS2104341254 POU3F3 Health Risk Likely pathogenic —
RS2104341995 MSH6 Health Risk Pathogenic —
RS2104342335 SLC3A1 Health Risk Likely pathogenic Cystinuria, Cystinuria
RS2104342591 SLC5A7 Health Risk Pathogenic Neuronopathy, distal hereditary motor
RS2104342755 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2104343300 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2104343962 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2104344199 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2104349058 MSH2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2104351513 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS2104352046 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS2104352270 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2104352652 LHCGR Health Risk Pathogenic Leydig cell agenesis, Luteinizing hormone resistance
RS2104354873 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2104355428 SNRNP200 Health Risk Likely pathogenic Retinitis pigmentosa, Retinitis pigmentosa
RS2104356621 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2104356633 SNRNP200 Health Risk Pathogenic —
RS2104356934 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2104359210 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2104359762 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2104360072 EFEMP1 Health Risk Pathogenic Glaucoma of childhood, Glaucoma 1
RS2104363664 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2104363773 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2104364101 SLC3A1 Health Risk Likely pathogenic Cystinuria, Cystinuria
RS2104364872 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS2104367663 MSH2 Health Risk Likely pathogenic Carcinoma of colon, Lynch syndrome 1
RS2104367794 MSH2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2104368001 MSH2 Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS2104368213 MSH6 Health Risk Likely pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2104369155 EFEMP1 Health Risk Pathogenic Cutis laxa, autosomal recessive
RS2104369249 HTRA2 Health Risk Pathogenic/Likely pathogenic 3-methylglutaconic aciduria type 8, 3-methylglutaconic aciduria type 8
RS2104370049 MSH2 Health Risk Pathogenic —
RS2104370344 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2104371246 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2104372168 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2104372440 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2104372581 MSH6 Health Risk Pathogenic/Likely pathogenic Lynch syndrome 5, Lynch syndrome 5
RS2104372607 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2104373272 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2104373859 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2104374324 HTRA2 Health Risk Pathogenic —
RS2104374887 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2104376613 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 5
RS2104376837 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2104376970 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2104377051 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2104377567 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2104378017 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2104378200 MSH2 Health Risk Likely pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2104378465 MSH6 Health Risk Likely pathogenic Endometrial carcinoma, Lynch syndrome 5
RS2104379257 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2104379614 SLC5A7 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 2, Charcot-Marie-Tooth disease type 2
RS2104379659 MSH2 Health Risk Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 1
RS2104380327 MSH6 Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS2104380945 MSH6 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colon cancer, Lynch syndrome 5
RS2104382290 NRXN1 Health Risk Likely pathogenic —
RS2104383898 PREPL;SLC3A1 Health Risk Pathogenic Cystinuria, Cystinuria
RS2104385536 SLC3A1 Health Risk Pathogenic Cystinuria, Cystinuria
RS2104385579 SLC3A1 Health Risk Pathogenic/Likely pathogenic Cystinuria, Cystinuria
RS2104387177 EIF2AK3 Health Risk Pathogenic/Likely pathogenic Wolcott-Rallison dysplasia, Wolcott-Rallison dysplasia
RS2104388702 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2104389604 MSH6 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2104389632 MSH6 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2104390119 MSH6 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2104392010 EFEMP1 Health Risk Pathogenic —
RS2104392639 REEP1 Health Risk Pathogenic Hereditary spastic paraplegia 31, Hereditary spastic paraplegia 31
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