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
RS2528427978 CENPF Health Risk Pathogenic —
RS2528428172 LRP2 Health Risk Pathogenic —
RS2528428435 LRP2 Health Risk Likely pathogenic —
RS2528434640 CENPF Health Risk Likely pathogenic Primary ciliary dyskinesia 29, Primary ciliary dyskinesia 29
RS2528435160 LRP2 Health Risk Pathogenic —
RS2528435379 LRP2 Health Risk Pathogenic —
RS2528435985 MTR Health Risk Pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS2528436006 MTR Health Risk Pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS2528436693 MTR Health Risk Likely pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS2528443064 SDCCAG8 Health Risk Likely pathogenic Senior-Loken syndrome 7, Bardet-Biedl syndrome 16
RS2528455666 SDCCAG8 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2528456354 SDCCAG8 Health Risk Likely pathogenic Bardet-Biedl syndrome 16, Senior-Loken syndrome 7
RS2528483163 LRP2 Health Risk Likely pathogenic —
RS2528487643 RYR2 Health Risk Conflicting classifications of pathogenicity Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia
RS2528491247 LRP2 Health Risk Likely pathogenic Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS2528507871 RYR2 Health Risk Pathogenic Catecholaminergic polymorphic ventricular tachycardia 1, Catecholaminergic polymorphic ventricular tachycardia 1
RS2528508198 LRP2 Health Risk Pathogenic —
RS2528509856 SLC1A4 Health Risk Conflicting classifications of pathogenicity Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
RS2528509885 SLC1A4 Health Risk Pathogenic —
RS2528510595 SLC1A4 Health Risk Likely pathogenic Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
RS2528510808 SLC1A4 Health Risk Pathogenic —
RS2528511199 SLC1A4 Health Risk Pathogenic —
RS2528521189 IL1R1 Health Risk Pathogenic Chronic recurrent multifocal osteomyelitis 3, Chronic recurrent multifocal osteomyelitis 3
RS2528522105 MTR Health Risk Pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS2528523329 IRF2BP2 Health Risk Likely pathogenic Immunodeficiency, common variable
RS2528524023 MTR Health Risk Likely pathogenic MTR-related disorder, MTR-related disorder
RS2528524093 IRF2BP2 Health Risk Conflicting classifications of pathogenicity Immunodeficiency, common variable
RS2528527318 LRP2 Health Risk Conflicting classifications of pathogenicity Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS2528532731 SLC39A4 Health Risk Pathogenic —
RS2528537363 MTR Health Risk Pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS2528537380 MTR Health Risk Pathogenic Methylcobalamin deficiency type cblG, Methylcobalamin deficiency type cblG
RS2528547442 CACNA1E Health Risk Likely pathogenic —
RS2528548650 LRP2 Health Risk Pathogenic —
RS2528548714 LRP2 Health Risk Likely pathogenic —
RS2528559979 LRP2 Health Risk Likely pathogenic —
RS2528560334 LRP2 Health Risk Pathogenic —
RS2528561476 SLC1A4 Health Risk Likely pathogenic SLC1A4-related disorder, SLC1A4-related disorder
RS2528567165 NBAS Health Risk Pathogenic —
RS2528568304 LRP2 Health Risk Pathogenic —
RS2528575772 SLC1A4 Health Risk Pathogenic —
RS2528576121 SLC1A4 Health Risk Likely pathogenic Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome, Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
RS2528576268 SLC1A4 Health Risk Pathogenic —
RS2528576487 SLC1A4 Health Risk Pathogenic —
RS2528576536 SLC1A4 Health Risk Pathogenic —
RS2528609545 RAB3GAP2 Health Risk Likely pathogenic Martsolf syndrome 1, Martsolf syndrome 1
RS2528609674 RAB3GAP2 Health Risk Pathogenic Martsolf syndrome, Warburg micro syndrome 2
RS2528612732 PI4KB Health Risk Pathogenic Hearing loss, autosomal dominant 87
RS2528617056 LRP2 Health Risk Likely pathogenic —
RS2528617066 LRP2 Health Risk Likely pathogenic —
RS2528617075 LRP2 Health Risk Likely pathogenic Donnai-Barrow syndrome, Donnai-Barrow syndrome
RS2528617080 LRP2 Health Risk Pathogenic —
RS2528619145 RAB3GAP2 Health Risk Likely pathogenic —
RS2528620919 PI4KB Health Risk Pathogenic Hearing loss, autosomal dominant 87
RS2528640993 MSH2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2528662363 RAB3GAP2 Health Risk Likely pathogenic Martsolf syndrome 1, Martsolf syndrome 1
RS2528663434 RAB3GAP2 Health Risk Likely pathogenic RAB3GAP2-related disorder, RAB3GAP2-related disorder
RS2528671145 LRP2 Health Risk Likely pathogenic —
RS2528671501 LRP2 Health Risk Pathogenic —
RS2528681294 RAB3GAP2 Health Risk Pathogenic Martsolf syndrome, Warburg micro syndrome 2
RS2528685221 RAB3GAP2 Health Risk Likely pathogenic Warburg micro syndrome 2, Warburg micro syndrome 2
RS2528685282 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528686227 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528686333 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528686401 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528687024 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528687444 MSH2 Health Risk Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2528688020 MSH2 Health Risk Pathogenic Lynch syndrome 1, Lynch syndrome 1
RS2528688225 MSH2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528688474 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528688731 MSH2 Health Risk Pathogenic Lynch syndrome 1, Hereditary nonpolyposis colon cancer
RS2528688924 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528690308 RAB3GAP2 Health Risk Likely pathogenic Warburg micro syndrome 2, Warburg micro syndrome 2
RS2528690648 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528691205 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528691581 CACNA1E Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Developmental and epileptic encephalopathy
RS2528692371 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528692611 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528692699 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2528692746 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528693208 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528693564 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528693698 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528693860 MSH2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2528720999 IGKC Health Risk Pathogenic Recurrent infections associated with rare immunoglobulin isotypes deficiency, Recurrent infections associated with rare immunoglobulin isotypes deficiency
RS2528725105 ABHD5 Health Risk Likely pathogenic ABHD5-related disorder, ABHD5-related disorder
RS2528725124 RAB3GAP2 Health Risk Pathogenic Martsolf syndrome, Warburg micro syndrome 2
RS2528737257 ABHD5 Health Risk Pathogenic —
RS2528738360 LARS2 Health Risk Pathogenic —
RS2528738855 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS2528738902 AGXT Health Risk Pathogenic Primary hyperoxaluria, type I
RS2528738944 AGXT Health Risk Pathogenic —
RS2528738955 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS2528738978 AGXT Health Risk Pathogenic Primary hyperoxaluria, type I
RS2528739107 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS2528739362 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, Primary hyperoxaluria
RS2528739914 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS2528739939 AGXT Health Risk Pathogenic Primary hyperoxaluria, type I
RS2528739981 AGXT Health Risk Conflicting classifications of pathogenicity Primary hyperoxaluria, type I
RS2528739984 AGXT Health Risk Likely pathogenic Primary hyperoxaluria, type I
RS2528740066 AGXT Health Risk Pathogenic Primary hyperoxaluria, type I
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