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
RS281860609 HBA2 Health Risk Conflicting classifications of pathogenicity —
RS281860615 HBA2 Health Risk Conflicting classifications of pathogenicity HBA2-related disorder, HBA2-related disorder
RS281860626 HBA2 Health Risk Likely pathogenic —
RS281860639 KDM5C Health Risk Pathogenic Syndromic X-linked intellectual disability Claes-Jensen type, Syndromic X-linked intellectual disability Claes-Jensen type
RS281860640 G6PD Health Risk Pathogenic Anemia, nonspherocytic hemolytic
RS281860663 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS281860665 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type B
RS281860666 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type B
RS281860668 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS281860669 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS281860676 SMPD1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type B
RS281860677 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS281864468 AIFM1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth disease X-linked recessive 4, Charcot-Marie-Tooth disease X-linked recessive 4
RS281864497 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS281864502 HBA1 Health Risk Conflicting classifications of pathogenicity —
RS281864518 HBB Health Risk Pathogenic/Likely pathogenic beta Thalassemia, beta Thalassemia
RS281864519 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS281864520 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS281864525 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS281864527 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS281864528 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS281864530 HBB Health Risk Pathogenic —
RS281864531 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS281864532 HBB Health Risk Likely pathogenic BETA-PLUS-THALASSEMIA, beta Thalassemia
RS281864535 HBA1 Health Risk Pathogenic/Likely pathogenic alpha Thalassemia, Heinz body anemia
RS281864539 HBA2 Health Risk Pathogenic alpha Thalassemia, alpha Thalassemia
RS281864544 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS281864550 HBA2 Health Risk Pathogenic/Likely pathogenic alpha Thalassemia, Hemoglobin H disease
RS281864560 HBA2 Health Risk Likely pathogenic HEMOGLOBIN H HYDROPS FETALIS SYNDROME, HEMOGLOBIN H HYDROPS FETALIS SYNDROME
RS281864566 HBA1 Health Risk Conflicting classifications of pathogenicity —
RS281864571 HBA1 Health Risk Likely pathogenic Erythrocytosis, familial
RS281864581 HBB;LOC106099062;LOC107133510 Health Risk Pathogenic Hemoglobinopathy, Hemoglobinopathy
RS281864719 ALK Health Risk Pathogenic Neuroblastoma, susceptibility to
RS281864720 ALK Health Risk Pathogenic Neuroblastoma, susceptibility to
RS281864779 PRKAR1A Health Risk Pathogenic Carney complex, type 1
RS281864780 PRKAR1A Health Risk Likely pathogenic Carney complex, type 1
RS281864782 PRKAR1A Health Risk Pathogenic Carney complex, type 1
RS281864783 PRKAR1A Health Risk Pathogenic Carney complex, type 1
RS281864784 PRKAR1A Health Risk Pathogenic Carney complex, type 1
RS281864785 PRKAR1A Health Risk Pathogenic Carney complex, type 1
RS281864790 PRKAR1A Health Risk Pathogenic Carney complex, type 1
RS281864791 PRKAR1A Health Risk Pathogenic Familial atrial myxoma, Familial atrial myxoma
RS281864792 PRKAR1A Health Risk Pathogenic Carney complex, type 1
RS281864797 PRKAR1A Health Risk Likely pathogenic Carney complex, type 1
RS281864798 PRKAR1A Health Risk Pathogenic Carney complex, type 1
RS281864799 PRKAR1A Health Risk Likely pathogenic Carney complex, type 1
RS281864800 PRKAR1A Health Risk Likely pathogenic Carney complex, type 1
RS281864801 PRKAR1A Health Risk Pathogenic/Likely pathogenic Pigmented nodular adrenocortical disease, primary
RS281864809 HBA2 Health Risk Conflicting classifications of pathogenicity —
RS281864810 HBA2 Health Risk Conflicting classifications of pathogenicity Heinz body anemia, alpha Thalassemia
RS281864811 HBA2 Health Risk Conflicting classifications of pathogenicity alpha Thalassemia, alpha Thalassemia
RS281864817 HBA2 Health Risk Conflicting classifications of pathogenicity —
RS281864819 HBA2 Health Risk Likely pathogenic alpha Thalassemia, alpha Thalassemia
RS281864821 HBA2 Health Risk Likely pathogenic alpha Thalassemia, alpha Thalassemia
RS281864823 HBA2 Health Risk Conflicting classifications of pathogenicity alpha Thalassemia, alpha Thalassemia
RS281864828 HBA1 Health Risk Pathogenic; other HEMOGLOBIN KANAGAWA, Erythrocytosis
RS281864829 HBA2 Health Risk Pathogenic Thalassemia, Thalassemia
RS281864834 HBA2 Health Risk Pathogenic/Likely pathogenic HEMOGLOBIN L (FERRARA), HEMOGLOBIN SINAI
RS281864840 HBA2 Health Risk Pathogenic/Likely pathogenic —
RS281864844 HBA2 Health Risk Conflicting classifications of pathogenicity —
RS281864846 HBA2 Health Risk Pathogenic Non-immune hydrops fetalis, HEMOGLOBIN H HYDROPS FETALIS SYNDROME
RS281864849 HBA2 Health Risk Conflicting classifications of pathogenicity —
RS281864853 HBA2 Health Risk Conflicting classifications of pathogenicity —
RS281864858 HBA2 Health Risk Conflicting classifications of pathogenicity —
RS281864863 LOC106804612;HBA2 Health Risk Likely pathogenic —
RS281864878 HBA2 Health Risk Pathogenic/Likely pathogenic —
RS281864889 HBA2 Health Risk Pathogenic alpha Thalassemia, alpha Thalassemia
RS281864895 HBA1 Health Risk Pathogenic alpha Thalassemia, alpha Thalassemia
RS281864898 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS281864899 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS281864901 HBB Health Risk Pathogenic Beta zero thalassemia, beta Thalassemia
RS281864906 HBB Health Risk Pathogenic beta Thalassemia, beta Thalassemia
RS281864913 GLRA1 Health Risk Conflicting classifications of pathogenicity Hereditary hyperekplexia, Hyperekplexia 1
RS281864914 GLRA1 Health Risk Likely pathogenic Hyperekplexia 1, Hereditary hyperekplexia
RS281864915 GLRA1 Health Risk Pathogenic/Likely pathogenic Hyperekplexia 1, Hereditary hyperekplexia
RS281864916 GLRA1 Health Risk Pathogenic Hyperekplexia 1, Hereditary hyperekplexia
RS281864917 GLRA1 Health Risk Likely pathogenic Hyperekplexia 1, Hereditary hyperekplexia
RS281864918 GLRA1 Health Risk Pathogenic/Likely pathogenic Hereditary hyperekplexia, Hyperekplexia 1
RS281864919 GLRA1 Health Risk Pathogenic/Likely pathogenic Hereditary hyperekplexia, Hereditary hyperekplexia
RS281864920 GLRA1 Health Risk Pathogenic Hyperekplexia 1, Hyperekplexia 1
RS281864921 GLRA1 Health Risk Pathogenic Hyperekplexia 1, Hereditary hyperekplexia
RS281864922 GLRB Health Risk Pathogenic/Likely pathogenic Hyperekplexia 2, Hyperekplexia 2
RS281864923 SLC6A5 Health Risk Pathogenic Hyperekplexia 3, Hyperekplexia 3
RS281864924 SLC6A5 Health Risk Pathogenic Hyperekplexia 3, Hyperekplexia 3
RS281864925 SLC6A5 Health Risk Pathogenic Hyperekplexia 3, Hyperekplexia 3
RS281864926 SLC6A5 Health Risk Pathogenic Hyperekplexia 3, Hyperekplexia 3
RS281864927 TTN Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Tibial muscular dystrophy
RS281864928 TTN Health Risk Pathogenic/Likely pathogenic Tibial muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS281864929 TTN Health Risk Conflicting classifications of pathogenicity Tibial muscular dystrophy, Tibial muscular dystrophy
RS281864930 TTN Health Risk Pathogenic Tibial muscular dystrophy, Myopathy
RS281864932 TTN Health Risk Pathogenic Tibial muscular dystrophy, Tibial muscular dystrophy
RS281864933 TTN Health Risk Pathogenic Tibial muscular dystrophy, Tibial muscular dystrophy
RS281864934 CHMP2B Health Risk Pathogenic Frontotemporal dementia and/or amyotrophic lateral sclerosis 7, Frontotemporal dementia and/or amyotrophic lateral sclerosis 7
RS281864936 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS281864938 MLH1 Health Risk Pathogenic Lynch syndrome, Hereditary nonpolyposis colorectal neoplasms
RS281864944 MSH2 Health Risk Pathogenic Lynch syndrome, Hereditary cancer-predisposing syndrome
RS281864947 GNPTAB Health Risk Likely pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS281864953 GNPTAB Health Risk Likely pathogenic Pseudo-Hurler polydystrophy, Mucolipidosis type II
RS281864954 GNPTAB Health Risk Pathogenic/Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS281864955 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
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