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
RS214088 NUCB2 Health Risk Conflicting classifications of pathogenicity —
RS2140884265 ZMYM2 Health Risk Likely pathogenic Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract
RS2140884891 ZMYM2 Health Risk Likely pathogenic Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract
RS2140885139 ZMYM2 Health Risk Likely pathogenic Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities
RS2140886312 KIAA0586 Health Risk Pathogenic Short-rib thoracic dysplasia 14 with polydactyly, Joubert syndrome 23
RS2140886548 KIAA0586 Health Risk Likely pathogenic Joubert syndrome 23, Joubert syndrome 23
RS2140887842 KIAA0586 Health Risk Pathogenic Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS2140890776 BUB1B Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1
RS2140894443 PPP2R5C Health Risk Likely pathogenic See cases, See cases
RS2140895653 FAN1 Health Risk Likely pathogenic Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis
RS2140899111 TRPM1 Health Risk Pathogenic —
RS2140900203 BUB1B Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1
RS2140900615 BUB1B Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1
RS2140900652 BUB1B Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1
RS2140900726 TRPM1 Health Risk Pathogenic —
RS2140900870 TRPM1 Health Risk Pathogenic —
RS2140902057 BUB1B Health Risk Pathogenic —
RS2140903030 AKT1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Proteus syndrome
RS2140903557 PPP2R5C Health Risk Likely pathogenic Global developmental delay, PPP2R5C-related neurodevelopmental disorder
RS2140904074 BUB1B Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1
RS2140906206 BUB1B Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1
RS2140907114 SOX5 Health Risk Pathogenic Lamb-Shaffer syndrome, Lamb-Shaffer syndrome
RS2140908210 BUB1B Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 1, Premature chromatid separation trait
RS2140911352 BUB1B Health Risk Conflicting classifications of pathogenicity Mosaic variegated aneuploidy syndrome 1, Inborn genetic diseases
RS2140911376 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2140911440 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2140911612 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2140912326 BUB1B Health Risk Pathogenic Mosaic variegated aneuploidy syndrome 1, Mosaic variegated aneuploidy syndrome 1
RS2140913822 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2140913969 FAN1 Health Risk Pathogenic Karyomegalic interstitial nephritis, Karyomegalic interstitial nephritis
RS2140914403 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2140918716 TRPM1 Health Risk Pathogenic —
RS2140918945 BLOC1S6 Health Risk Pathogenic —
RS2140918991 BLOC1S6 Health Risk Conflicting classifications of pathogenicity Hermansky-Pudlak syndrome 9, Hermansky-Pudlak syndrome
RS2140920796 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2140920898 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2140920947 SPG11 Health Risk Pathogenic Abnormal central motor function, Abnormal central motor function
RS2140921013 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia, Hereditary spastic paraplegia
RS2140923130 SPG11 Health Risk Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS2140923165 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2140926873 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2140927039 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2140927283 TRPM1 Health Risk Pathogenic —
RS2140928925 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2140928964 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2140930183 TRPM1 Health Risk Pathogenic —
RS2140931516 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2140933776 DMXL2 Health Risk Pathogenic Hearing loss, autosomal dominant 71
RS2140934862 AP4E1 Health Risk Pathogenic —
RS2140934998 AP4E1 Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS2140937312 TPM1 Health Risk Conflicting classifications of pathogenicity TPM1-related disorder, Hypertrophic cardiomyopathy
RS2140937964 TPM1 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2140943428 SPRED1 Health Risk Likely pathogenic Legius syndrome, Legius syndrome
RS2140943462 SPRED1 Health Risk Likely pathogenic Legius syndrome, Neurofibromatosis
RS2140946934 SPG11 Health Risk Likely pathogenic Abnormal central motor function, Abnormal central motor function
RS2140947448 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2140947703 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2140958268 RAB27A Health Risk Pathogenic Griscelli syndrome type 2, Griscelli syndrome type 2
RS2140958324 RAB27A Health Risk Pathogenic Griscelli syndrome type 2, Griscelli syndrome type 2
RS2140958498 RAB27A Health Risk Likely pathogenic Griscelli syndrome type 2, Griscelli syndrome type 2
RS2140958637 RAB27A Health Risk Pathogenic Griscelli syndrome type 2, Griscelli syndrome type 2
RS2140963289 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2140963813 TPM1 Health Risk Likely pathogenic Dilated cardiomyopathy 1Y, Dilated cardiomyopathy 1Y
RS2140965404 OCA2 Health Risk Likely pathogenic —
RS2140965742 OCA2 Health Risk Pathogenic Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS2140966903 TRPM1 Health Risk Likely pathogenic —
RS2140969490 TPM1 Health Risk Likely pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2140969609 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2140971559 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Charcot-Marie-Tooth disease axonal type 2X
RS2140971667 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2140972000 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2140973951 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2140974070 TPM1 Health Risk Pathogenic Hypertrophic cardiomyopathy, Hypertrophic cardiomyopathy
RS2140976096 TTC8 Health Risk Pathogenic Bardet-Biedl syndrome, TTC8-related disorder
RS2140976871 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2140977221 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2140977987 TTC8 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2140978275 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2140978326 SPG11 Health Risk Likely pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2140978331 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS2140978513 SPRED1 Health Risk Likely pathogenic Noonan syndrome and Noonan-related syndrome, Noonan syndrome and Noonan-related syndrome
RS2140978976 OCA2 Health Risk Pathogenic —
RS2140979313 OCA2 Health Risk Likely pathogenic —
RS2140979845 JAG2 Health Risk Pathogenic Muscular dystrophy, limb-girdle
RS2140980232 OCA2 Health Risk Likely pathogenic —
RS2140982382 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2140986045 TTBK2 Health Risk Conflicting classifications of pathogenicity Spinocerebellar ataxia type 11, Spinocerebellar ataxia type 11
RS2140987866 MTHFD1 Health Risk Likely pathogenic Severe combined immunodeficiency disease, Severe combined immunodeficiency disease
RS2140987898 MTHFD1 Health Risk Pathogenic —
RS2140994872 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS2140998768 TRPM7 Health Risk Pathogenic Intestinal hypomagnesemia 1, Intestinal hypomagnesemia 1
RS2140999192 SLC12A1 Health Risk Pathogenic —
RS2140999428 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2140999501 TTC8 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2140999630 TTC8 Health Risk Likely pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2141000225 JAG2 Health Risk Conflicting classifications of pathogenicity Muscular dystrophy, limb-girdle
RS2141007796 SPRED1 Health Risk Pathogenic Legius syndrome, Legius syndrome
RS2141010951 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2141011028 SPG11 Health Risk Pathogenic Hereditary spastic paraplegia 11, Hereditary spastic paraplegia 11
RS2141014102 PMM2 Health Risk Pathogenic/Likely pathogenic PMM2-congenital disorder of glycosylation, PMM2-congenital disorder of glycosylation
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