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
RS2525294446 PPOX Health Risk Pathogenic Variegate porphyria, childhood-onset
RS2525294459 DMD Health Risk Likely pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2525294536 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2525295490 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2525297168 PKLR Health Risk Pathogenic/Likely pathogenic —
RS2525298657 PKLR Health Risk Likely pathogenic —
RS2525298832 PKLR Health Risk Likely pathogenic —
RS2525298952 PBX1 Health Risk Likely pathogenic PBX1-related disorder, PBX1-related disorder
RS2525299549 PBX1 Health Risk Pathogenic Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears
RS2525299908 PBX1 Health Risk Likely pathogenic Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears
RS2525300740 COL11A1 Health Risk Likely pathogenic —
RS2525301718 HFM1 Health Risk Likely pathogenic Premature ovarian failure 9, Premature ovarian failure 9
RS2525303590 PKLR Health Risk Likely pathogenic —
RS2525306943 PPOX Health Risk Pathogenic/Likely pathogenic Cardiomyopathy, Cardiomyopathy
RS2525310842 PEX19 Health Risk Likely pathogenic Peroxisome biogenesis disorder 12A (Zellweger), Peroxisome biogenesis disorder 12A (Zellweger)
RS2525310933 PEX19 Health Risk Pathogenic Peroxisome biogenesis disorder 12A (Zellweger), Peroxisome biogenesis disorder 12A (Zellweger)
RS2525311581 CHD5 Health Risk Likely pathogenic Parenti-mignot neurodevelopmental syndrome, Parenti-mignot neurodevelopmental syndrome
RS2525311821 SPTA1 Health Risk Pathogenic —
RS2525313520 SPTA1 Health Risk Likely pathogenic —
RS2525315768 COL11A1 Health Risk Pathogenic —
RS2525316064 PEX19 Health Risk Likely pathogenic Peroxisome biogenesis disorder 12A (Zellweger), Zellweger spectrum disorders
RS2525319078 PEX19 Health Risk Pathogenic Peroxisome biogenesis disorder 12A (Zellweger), Peroxisome biogenesis disorder 12A (Zellweger)
RS2525324652 SPTA1 Health Risk Likely pathogenic —
RS2525325352 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2525325369 PEX19 Health Risk Pathogenic Peroxisome biogenesis disorder 12A (Zellweger), Peroxisome biogenesis disorder 12A (Zellweger)
RS2525327368 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2525328671 DMD Health Risk Likely pathogenic Duchenne and Becker muscular dystrophy, Duchenne and Becker muscular dystrophy
RS2525331949 SPTA1 Health Risk Likely pathogenic —
RS2525336107 POMGNT1 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
RS2525336277 POMGNT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
RS2525336723 POMGNT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
RS2525339224 ATF6 Health Risk Pathogenic —
RS2525339520 ATF6 Health Risk Pathogenic —
RS2525343053 POMGNT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
RS2525344095 POMGNT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
RS2525344279 ATF6 Health Risk Pathogenic —
RS2525345067 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS2525345109 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS2525345308 POMGNT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2525345375 POMGNT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2525345840 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS2525345893 PKLR Health Risk Likely pathogenic Pyruvate kinase deficiency of red cells, Pyruvate kinase deficiency of red cells
RS2525347778 RCC1 Health Risk Pathogenic See cases, See cases
RS2525349586 RCC1 Health Risk Likely pathogenic See cases, See cases
RS2525350703 COL11A1 Health Risk Likely pathogenic —
RS2525351411 COL11A1 Health Risk Likely pathogenic —
RS2525354474 DNAJC6 Health Risk Likely pathogenic Juvenile onset Parkinson disease 19A, Juvenile onset Parkinson disease 19A
RS2525355372 POMGNT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2525355533 POMGNT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2525355640 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS2525360161 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS2525360440 POMGNT1 Health Risk Likely pathogenic POMGNT1-related disorder, Retinitis pigmentosa 76
RS2525360577 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS2525361367 PPOX Health Risk Pathogenic/Likely pathogenic —
RS2525361506 PPOX Health Risk Pathogenic —
RS2525362626 COL11A1 Health Risk Pathogenic —
RS2525363379 CHD5 Health Risk Likely pathogenic Parenti-mignot neurodevelopmental syndrome, Parenti-mignot neurodevelopmental syndrome
RS2525368687 COPA Health Risk Likely pathogenic Autoimmune interstitial lung disease-arthritis syndrome, Autoimmune interstitial lung disease-arthritis syndrome
RS2525370081 COL11A1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2525370664 COL11A1 Health Risk Pathogenic/Likely pathogenic Stickler syndrome type 2, Marshall syndrome
RS2525370860 COL11A1 Health Risk Likely pathogenic —
RS2525372237 CHD5 Health Risk Likely pathogenic Parenti-mignot neurodevelopmental syndrome, Parenti-mignot neurodevelopmental syndrome
RS2525375259 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2525378715 CHD5 Health Risk Pathogenic —
RS2525382839 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS2525383254 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS2525383534 POMGNT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2525383655 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS2525384059 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS2525384071 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS2525386608 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS2525386642 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS2525386670 COL11A1 Health Risk Likely pathogenic —
RS2525386687 COL11A1 Health Risk Pathogenic —
RS2525387042 CHD5 Health Risk Likely pathogenic Parenti-mignot neurodevelopmental syndrome, Parenti-mignot neurodevelopmental syndrome
RS2525387215 POMGNT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
RS2525387871 POMGNT1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2525388972 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS2525389456 POMGNT1 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS2525391420 SPTA1 Health Risk Pathogenic Hereditary spherocytosis type 3, Hereditary spherocytosis type 3
RS2525391483 SPTA1 Health Risk Likely pathogenic Spherocytosis, Spherocytosis
RS2525392096 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS2525395003 CHD5 Health Risk Likely pathogenic Parenti-mignot neurodevelopmental syndrome, Parenti-mignot neurodevelopmental syndrome
RS2525398475 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
RS2525400290 SPTA1 Health Risk Likely pathogenic —
RS2525403699 POMGNT1 Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2525404770 COL11A1 Health Risk Pathogenic —
RS2525406050 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS2525406886 POMGNT1 Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2O, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2525408546 COL11A1 Health Risk Pathogenic —
RS2525411153 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS2525411630 POMGNT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
RS2525412110 POMGNT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability), type B3
RS2525417527 NF1 Health Risk Pathogenic Neurofibromatosis, type 1
RS2525419467 CHD5 Health Risk Likely pathogenic —
RS2525419753 CHD5 Health Risk Likely pathogenic —
RS2525424712 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
RS2525424719 PEX11B Health Risk Pathogenic —
RS2525426371 CHD5 Health Risk Pathogenic —
RS2525428064 POMGNT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3
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