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
RS2514423508 ITPA Health Risk Likely pathogenic Inosine triphosphatase deficiency, Inosine triphosphatase deficiency
RS2514423602 ITPA Health Risk Pathogenic Inosine triphosphatase deficiency, Inosine triphosphatase deficiency
RS2514423744 ITPA Health Risk Pathogenic Inosine triphosphatase deficiency, Inosine triphosphatase deficiency
RS2514425248 ITPA Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 35
RS2514425313 ITPA Health Risk Pathogenic Developmental and epileptic encephalopathy, 35
RS2514426253 BMP2 Health Risk Pathogenic/Likely pathogenic Short stature, facial dysmorphism
RS2514426566 BMP2 Health Risk Pathogenic Type A2 brachydactyly, Short stature
RS2514426680 BMP2 Health Risk Pathogenic/Likely pathogenic —
RS2514426884 BMP2 Health Risk Pathogenic —
RS2514427047 BMP2 Health Risk Pathogenic Dextro-looped transposition of the great arteries, Dextro-looped transposition of the great arteries
RS2514427081 BMP2 Health Risk Pathogenic Ventricular septal defect 1, Ventricular septal defect 1
RS2514427113 BMP2 Health Risk Likely pathogenic BMP2-related disorder, BMP2-related disorder
RS2514427148 BMP2 Health Risk Pathogenic Atrial septal defect 1, Atrial septal defect 1
RS2514428654 MCM8 Health Risk Likely pathogenic —
RS2514432160 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS2514433288 RYR1 Health Risk Likely pathogenic —
RS2514433461 RYR1 Health Risk Pathogenic —
RS2514436908 CNOT3 Health Risk Likely pathogenic Intellectual developmental disorder with speech delay, autism
RS2514437642 ITPA Health Risk Pathogenic Inosine triphosphatase deficiency, Inosine triphosphatase deficiency
RS2514443324 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514443505 MYH14 Health Risk Likely pathogenic See cases, See cases
RS2514444674 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS2514447074 PLEKHG2 Health Risk Likely pathogenic Leukodystrophy and acquired microcephaly with or without dystonia, Leukodystrophy and acquired microcephaly with or without dystonia
RS2514448687 SMARCA4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2514451510 SMARCA4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2514452515 NLRP5 Health Risk Pathogenic Oocyte/zygote/embryo maturation arrest 19, Oocyte/zygote/embryo maturation arrest 19
RS2514452594 SMARCA4 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2514452737 NLRP5 Health Risk Conflicting classifications of pathogenicity Oocyte/zygote/embryo maturation arrest 19, Oocyte/zygote/embryo maturation arrest 19
RS2514458622 ITPA Health Risk Likely pathogenic Inosine triphosphatase deficiency, Inosine triphosphatase deficiency
RS2514460185 ITPA Health Risk Pathogenic/Likely pathogenic Inborn genetic diseases, Inosine triphosphatase deficiency
RS2514462373 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514462770 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514464325 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS2514466071 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2514467771 LIPE Health Risk Pathogenic LIPE-related familial partial lipodystrophy, LIPE-related familial partial lipodystrophy
RS2514477320 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514477591 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514477883 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS2514485342 RYR1 Health Risk Likely pathogenic —
RS2514485464 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514485599 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514485704 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS2514485712 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS2514486401 MKKS Health Risk Likely pathogenic McKusick-Kaufman syndrome, McKusick-Kaufman syndrome
RS2514486688 MKKS Health Risk Likely pathogenic Bardet-Biedl syndrome 6, Bardet-Biedl syndrome 6
RS2514486985 MKKS Health Risk Likely pathogenic Bardet-Biedl syndrome 6, Bardet-Biedl syndrome 6
RS2514486998 MKKS Health Risk Likely pathogenic Bardet-Biedl syndrome 6, Bardet-Biedl syndrome 6
RS2514487000 MKKS Health Risk Pathogenic Bardet-Biedl syndrome, McKusick-Kaufman syndrome
RS2514487125 MKKS Health Risk Likely pathogenic Bardet-Biedl syndrome 6, Bardet-Biedl syndrome 6
RS2514489025 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS2514489090 MKKS Health Risk Pathogenic Bardet-Biedl syndrome 6, Bardet-Biedl syndrome 6
RS2514489097 MKKS Health Risk Pathogenic Bardet-Biedl syndrome, McKusick-Kaufman syndrome
RS2514489594 ITPA Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 35
RS2514490284 MKKS Health Risk Pathogenic Bardet-Biedl syndrome, McKusick-Kaufman syndrome
RS2514490293 MKKS Health Risk Pathogenic/Likely pathogenic MKKS-related disorder, Bardet-Biedl syndrome
RS2514490367 MKKS Health Risk Pathogenic McKusick-Kaufman syndrome, Bardet-Biedl syndrome
RS2514490385 MKKS Health Risk Likely pathogenic MKKS-related disorder, MKKS-related disorder
RS2514494395 RYR1 Health Risk Pathogenic RYR1-related myopathy, RYR1-related myopathy
RS2514495299 MED25 Health Risk Likely pathogenic Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome, Congenital cataract-microcephaly-nevus flammeus simplex-severe intellectual disability syndrome
RS2514495501 MKKS Health Risk Likely pathogenic Bardet-Biedl syndrome 6, Bardet-Biedl syndrome 6
RS2514495504 MKKS Health Risk Pathogenic Bardet-Biedl syndrome, McKusick-Kaufman syndrome
RS2514495508 MKKS Health Risk Likely pathogenic Bardet-Biedl syndrome 6, Bardet-Biedl syndrome 6
RS2514495642 MKKS Health Risk Likely pathogenic Bardet-Biedl syndrome 6, Bardet-Biedl syndrome 6
RS2514495654 MKKS Health Risk Likely pathogenic Bardet-Biedl syndrome 6, Bardet-Biedl syndrome 6
RS2514496005 MKKS Health Risk Conflicting classifications of pathogenicity Bardet-Biedl syndrome 6, Bardet-Biedl syndrome
RS2514496343 MKKS Health Risk Likely pathogenic Bardet-Biedl syndrome 6, Bardet-Biedl syndrome 6
RS2514496360 MKKS Health Risk Likely pathogenic Bardet-Biedl syndrome 6, Bardet-Biedl syndrome 6
RS2514496791 RYR1 Health Risk Conflicting classifications of pathogenicity Malignant hyperthermia, susceptibility to
RS2514496958 MKKS Health Risk Likely pathogenic Bardet-Biedl syndrome 6, Bardet-Biedl syndrome 6
RS2514497007 RYR1 Health Risk Conflicting classifications of pathogenicity RYR1-related disorder, Malignant hyperthermia
RS2514497043 MKKS Health Risk Pathogenic Bardet-Biedl syndrome, McKusick-Kaufman syndrome
RS2514497096 MKKS Health Risk Likely pathogenic Bardet-Biedl syndrome 6, McKusick-Kaufman syndrome
RS2514497218 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514497482 MKKS Health Risk Likely pathogenic Bardet-Biedl syndrome 6, Bardet-Biedl syndrome 6
RS2514497550 MKKS Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome 6, Bardet-Biedl syndrome
RS2514497554 MKKS Health Risk Pathogenic Bardet-Biedl syndrome, McKusick-Kaufman syndrome
RS2514497703 MKKS Health Risk Likely pathogenic Bardet-Biedl syndrome 6, Bardet-Biedl syndrome 6
RS2514498287 MKKS Health Risk Likely pathogenic Bardet-Biedl syndrome 6, Bardet-Biedl syndrome 6
RS2514498304 MKKS Health Risk Pathogenic Bardet-Biedl syndrome, McKusick-Kaufman syndrome
RS2514498517 MKKS Health Risk Pathogenic/Likely pathogenic Bardet-Biedl syndrome, McKusick-Kaufman syndrome
RS2514500246 MCM8 Health Risk Likely pathogenic —
RS2514500387 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2514503723 SLC4A11 Health Risk Likely pathogenic Congenital hereditary endothelial dystrophy of cornea, Congenital hereditary endothelial dystrophy of cornea
RS2514506380 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514506387 JAG1 Health Risk Likely pathogenic Hepatoblastoma, Hepatoblastoma
RS2514507703 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514507734 JAG1 Health Risk Likely pathogenic JAG1-related disorder, JAG1-related disorder
RS2514507762 JAG1 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2514507811 JAG1 Health Risk Likely pathogenic JAG1-related disorder, JAG1-related disorder
RS2514507971 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514508256 JAG1 Health Risk Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514508344 JAG1 Health Risk Pathogenic/Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514508349 JAG1 Health Risk Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514508367 JAG1 Health Risk Pathogenic/Likely pathogenic Alagille syndrome due to a JAG1 point mutation, JAG1-related disorder
RS2514508523 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514509209 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514509349 JAG1 Health Risk Pathogenic JAG1-related disorder, JAG1-related disorder
RS2514509368 JAG1 Health Risk Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514509543 JAG1 Health Risk Pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
RS2514509570 JAG1 Health Risk Likely pathogenic Alagille syndrome due to a JAG1 point mutation, Alagille syndrome due to a JAG1 point mutation
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