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
RS2140381286 CDK4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS2140381317 CDK4 Health Risk Conflicting classifications of pathogenicity Familial melanoma, Hereditary cancer-predisposing syndrome
RS2140382889 CDK4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial melanoma
RS2140384005 CDK4 Health Risk Conflicting classifications of pathogenicity Melanoma, cutaneous malignant
RS2140388619 CDK4 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Melanoma
RS2140396112 CYP27B1 Health Risk Likely pathogenic Vitamin D-dependent rickets, type 1A
RS2140396191 CYP27B1 Health Risk Pathogenic —
RS2140396224 CYP27B1 Health Risk Likely pathogenic Vitamin D-dependent rickets, type 1A
RS2140396403 CYP27B1 Health Risk Pathogenic —
RS2140396410 CYP27B1 Health Risk Likely pathogenic Vitamin D-dependent rickets, type 1
RS2140396992 CYP27B1 Health Risk Likely pathogenic —
RS2140397019 CYP27B1 Health Risk Likely pathogenic Vitamin D-dependent rickets, type 1
RS2140397164 CYP27B1 Health Risk Pathogenic Vitamin D-dependent rickets, type 1A
RS2140397262 CYP27B1 Health Risk Pathogenic Vitamin D-dependent rickets, type 1A
RS2140397587 CYP27B1 Health Risk Likely pathogenic Vitamin D-dependent rickets, type 1
RS2140397692 CYP27B1 Health Risk Pathogenic Vitamin D-dependent rickets, type 1A
RS2140397731 CYP27B1 Health Risk Pathogenic Vitamin D-dependent rickets, type 1A
RS2140398340 CYP27B1 Health Risk Pathogenic —
RS2140404268 COQ6 Health Risk Pathogenic Familial steroid-resistant nephrotic syndrome with sensorineural deafness, Familial steroid-resistant nephrotic syndrome with sensorineural deafness
RS2140404355 COQ6 Health Risk Pathogenic —
RS2140404882 COQ6 Health Risk Pathogenic —
RS2140412540 TSFM Health Risk Pathogenic/Likely pathogenic Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
RS2140413092 TSFM Health Risk Pathogenic/Likely pathogenic Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
RS2140415380 SPG21 Health Risk Likely pathogenic Hereditary spastic paraplegia, Hereditary spastic paraplegia
RS2140418135 TSFM Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
RS2140422904 KIF23 Health Risk Likely pathogenic Congenital dyserythropoietic anemia, type III
RS2140424315 TSFM Health Risk Pathogenic —
RS2140424344 TSFM Health Risk Pathogenic —
RS2140424365 TSFM Health Risk Pathogenic —
RS2140424959 KIF23 Health Risk Pathogenic Congenital dyserythropoietic anemia, type III
RS2140427422 SPG21 Health Risk Pathogenic Mast syndrome, Mast syndrome
RS2140428750 TSFM Health Risk Pathogenic —
RS2140429730 ACTC1 Health Risk Pathogenic —
RS2140430561 ACTC1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 11, Atrial septal defect 5
RS2140430645 ACTC1 Health Risk Likely pathogenic Atrial septal defect 5, Atrial septal defect 5
RS2140431879 ACTC1 Health Risk Likely pathogenic —
RS2140432240 ACTC1 Health Risk Likely pathogenic Hypertrophic cardiomyopathy 11, Atrial septal defect 5
RS2140432284 ACTC1 Health Risk Conflicting classifications of pathogenicity Hypertrophic cardiomyopathy 11, Dilated cardiomyopathy 1R
RS2140433062 ATP11A Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 33, Hearing loss
RS2140441397 SPG21 Health Risk Likely pathogenic Mast syndrome, Mast syndrome
RS2140471687 CDAN1 Health Risk Pathogenic Anemia, congenital dyserythropoietic
RS2140484777 MTFMT Health Risk Pathogenic —
RS2140490467 CDAN1 Health Risk Likely pathogenic —
RS2140493876 MTFMT Health Risk Pathogenic —
RS2140493897 MTFMT Health Risk Pathogenic —
RS2140496185 DPYS Health Risk Pathogenic —
RS2140505826 CDAN1 Health Risk Pathogenic Anemia, congenital dyserythropoietic
RS2140520299 PPFIBP1 Health Risk Pathogenic Microcephaly, Severe intellectual disability
RS2140527110 ERCC5 Health Risk Likely pathogenic Hepatoblastoma, Hepatoblastoma
RS2140536878 GABRB3 Health Risk Pathogenic Epilepsy, childhood absence
RS2140536891 GABRB3 Health Risk Likely pathogenic —
RS2140536974 GABRB3 Health Risk Likely pathogenic Epilepsy, childhood absence
RS2140536988 GABRB3 Health Risk Pathogenic Epilepsy, childhood absence
RS2140537271 GABRB3 Health Risk Pathogenic Epilepsy, childhood absence
RS2140538834 ERCC5 Health Risk Pathogenic Cerebrooculofacioskeletal syndrome 3, Cerebrooculofacioskeletal syndrome 3
RS2140545943 KBTBD13 Health Risk Conflicting classifications of pathogenicity Nemaline myopathy 6, Nemaline myopathy 6
RS2140551864 DMXL2 Health Risk Likely pathogenic —
RS2140558454 WDR72 Health Risk Likely pathogenic Distal renal tubular acidosis, Distal renal tubular acidosis
RS2140565674 KIAA0586 Health Risk Pathogenic Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS2140575082 ZMYM2 Health Risk Likely pathogenic Neurodevelopmental delay, Neurodevelopmental delay
RS2140576563 ZMYM2 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, Congenital anomaly of kidney and urinary tract
RS2140578834 MAP2K1 Health Risk Conflicting classifications of pathogenicity RASopathy, RASopathy
RS2140578916 MAP2K1 Health Risk Pathogenic RASopathy, RASopathy
RS2140579005 MAP2K1 Health Risk Pathogenic/Likely pathogenic Parkes Weber syndrome, Vascular malformation
RS2140580300 SMAD6 Health Risk Pathogenic Radioulnar synostosis, Radioulnar synostosis
RS2140580364 SMAD6 Health Risk Pathogenic Radioulnar synostosis, Radioulnar synostosis
RS2140580751 SMAD6 Health Risk Likely pathogenic Radioulnar synostosis, Radioulnar synostosis
RS2140581013 SMAD6 Health Risk Likely pathogenic Abnormal axial skeleton morphology, Radioulnar synostosis
RS2140581167 SMAD6 Health Risk Pathogenic Radioulnar synostosis, Radioulnar synostosis
RS2140581198 SMAD6 Health Risk Pathogenic Plagiocephaly, Radioulnar synostosis
RS2140581279 SMAD6 Health Risk Pathogenic Radioulnar synostosis, Radioulnar synostosis
RS2140581496 SMAD6 Health Risk Conflicting classifications of pathogenicity Aortic valve disease 2, Aortic valve disease 2
RS2140581633 SMAD6 Health Risk Pathogenic Radioulnar synostosis, Radioulnar synostosis
RS2140582795 SMAD6 Health Risk Pathogenic —
RS2140583355 MAP2K1 Health Risk Pathogenic —
RS2140583383 MAP2K1 Health Risk Pathogenic/Likely pathogenic Vascular malformation, Vascular malformation
RS2140588007 GABRA5 Health Risk Likely pathogenic —
RS2140591830 TTBK2 Health Risk Pathogenic —
RS2140596481 SMAD6 Health Risk Likely pathogenic Aortic valve disease 2, Aortic valve disease 2
RS2140596499 SMAD6 Health Risk Pathogenic Radioulnar synostosis, Radioulnar synostosis
RS2140596524 SMAD6 Health Risk Conflicting classifications of pathogenicity Radioulnar synostosis, nonsyndromic
RS2140619474 OCA2 Health Risk Likely pathogenic Tyrosinase-positive oculocutaneous albinism, Tyrosinase-positive oculocutaneous albinism
RS2140633558 SLC12A6 Health Risk Likely pathogenic —
RS2140639518 INF2 Health Risk Likely pathogenic Focal segmental glomerulosclerosis 5, Focal segmental glomerulosclerosis 5
RS2140641550 SLC12A6 Health Risk Pathogenic/Likely pathogenic Agenesis of the corpus callosum with peripheral neuropathy, Agenesis of the corpus callosum with peripheral neuropathy
RS2140641896 GATM Health Risk Pathogenic Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency
RS2140644856 GATM Health Risk Likely pathogenic —
RS2140644920 GATM Health Risk Likely pathogenic Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency
RS2140646735 GATM Health Risk Pathogenic Arginine:glycine amidinotransferase deficiency, Arginine:glycine amidinotransferase deficiency
RS2140647207 INF2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease dominant intermediate E, Focal segmental glomerulosclerosis 5
RS2140647298 INF2 Health Risk Likely pathogenic Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS2140648131 INF2 Health Risk Likely pathogenic Nephrotic syndrome, Nephrotic syndrome
RS2140648160 INF2 Health Risk Pathogenic Focal segmental glomerulosclerosis, Focal segmental glomerulosclerosis
RS2140648522 INF2 Health Risk Likely pathogenic Focal segmental glomerulosclerosis 5, Charcot-Marie-Tooth disease dominant intermediate E
RS2140653469 SLC12A6 Health Risk Pathogenic —
RS2140654428 SLC12A6 Health Risk Pathogenic —
RS2140657166 GATM Health Risk Likely pathogenic Fanconi renotubular syndrome 1, Fanconi renotubular syndrome 1
RS2140664007 KIAA0586 Health Risk Pathogenic Joubert syndrome 23, Short-rib thoracic dysplasia 14 with polydactyly
RS2140668239 MAP2K1 Health Risk Conflicting classifications of pathogenicity MAP2K1-related disorder, RASopathy
RS2140668412 OCA2 Health Risk Pathogenic —
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