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
RS2539306378 MARK2 Health Risk Pathogenic Autism spectrum disorder, Autism spectrum disorder
RS2539312069 A2ML1 Health Risk Conflicting classifications of pathogenicity —
RS2539312217 CAPN1 Health Risk Likely pathogenic CAPN1-related disorder, CAPN1-related disorder
RS2539312667 CAPN1 Health Risk Pathogenic —
RS2539313698 MARK2 Health Risk Pathogenic Autism spectrum disorder, Intellectual developmental disorder
RS2539314305 CLPB Health Risk Pathogenic 3-methylglutaconic aciduria, type VIIB
RS2539315343 MARK2 Health Risk Likely pathogenic Autism spectrum disorder, Intellectual developmental disorder
RS2539316753 CLPB Health Risk Likely pathogenic 3-methylglutaconic aciduria, type VIIB
RS2539319606 MARK2 Health Risk Pathogenic Autism spectrum disorder, Autism spectrum disorder
RS2539321295 MARK2 Health Risk Pathogenic Autism spectrum disorder, Intellectual developmental disorder
RS2539322573 MARK2 Health Risk Pathogenic Autism spectrum disorder, Malignant tumor of urinary bladder
RS2539323563 CLPB Health Risk Pathogenic 3-methylglutaconic aciduria, type VIIB
RS2539326870 MARK2 Health Risk Pathogenic Autism spectrum disorder, Autism spectrum disorder
RS2539328377 LRSAM1 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS2539330444 MARK2 Health Risk Likely pathogenic Autism spectrum disorder, Autism spectrum disorder
RS2539332826 MARK2 Health Risk Likely pathogenic Autism spectrum disorder, Autism spectrum disorder
RS2539333959 FKTN Health Risk Likely pathogenic Dilated cardiomyopathy 1X, Dilated cardiomyopathy 1X
RS2539334508 FKTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability)
RS2539334846 FKTN Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2539335503 MARK2 Health Risk Pathogenic Autism spectrum disorder, Autism spectrum disorder
RS2539336006 MARK2 Health Risk Likely pathogenic Autism spectrum disorder, MARK2-associated neurodevelopmental disorder
RS2539337600 FKTN Health Risk Likely pathogenic Dilated cardiomyopathy 1X, Dilated cardiomyopathy 1X
RS2539338375 FKTN Health Risk Likely pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2539338637 CACNA1B Health Risk Conflicting classifications of pathogenicity —
RS2539340597 PLEC Health Risk Pathogenic Epidermolysis bullosa simplex 5B, with muscular dystrophy
RS2539345095 CACNA1B Health Risk Likely pathogenic —
RS2539345198 CACNA1B Health Risk Likely pathogenic —
RS2539346486 CLPB Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2539350226 MARK2 Health Risk Pathogenic Autism spectrum disorder, Intellectual developmental disorder
RS2539350467 MARK2 Health Risk Pathogenic Autism spectrum disorder, Intellectual developmental disorder
RS2539350478 BMPR1A Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2539350502 MARK2 Health Risk Likely pathogenic Autism spectrum disorder, Autism spectrum disorder
RS2539350612 MARK2 Health Risk Likely pathogenic Autism spectrum disorder, Autism spectrum disorder
RS2539351000 BMPR1A Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS2539351347 BMPR1A Health Risk Likely pathogenic Juvenile polyposis syndrome, Colorectal cancer
RS2539363727 POMT1 Health Risk Likely pathogenic Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2539364366 POMT1 Health Risk Pathogenic/Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS2539365192 CTR9 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2539366355 POMT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS2539366540 FGF8 Health Risk Pathogenic/Likely pathogenic —
RS2539366599 CTR9 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2539366637 CTR9 Health Risk Likely pathogenic —
RS2539366660 CTR9 Health Risk Likely pathogenic —
RS2539372922 CACNA1B Health Risk Pathogenic —
RS2539373332 CACNA1B Health Risk Pathogenic —
RS2539375126 CACNA1B Health Risk Pathogenic —
RS2539376880 TRAPPC9 Health Risk Likely pathogenic —
RS2539378110 POMT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS2539378745 TRAPPC9 Health Risk Likely pathogenic Intellectual disability, autosomal recessive 13
RS2539378902 TRAPPC9 Health Risk Pathogenic Intellectual disability, autosomal recessive 13
RS2539380198 CTR9 Health Risk Likely pathogenic —
RS2539381136 POMT1 Health Risk Pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS2539396830 LRSAM1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS2539397796 POMT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS2539402070 FKTN Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2539402514 FKTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability)
RS2539403350 FKTN Health Risk Likely pathogenic Dilated cardiomyopathy 1X, Autosomal recessive limb-girdle muscular dystrophy type 2M
RS2539404585 FKTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability)
RS2539404849 FKTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability)
RS2539405255 FKTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability)
RS2539406491 FKTN Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2539406905 FKTN Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2539407411 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2539409368 COQ4 Health Risk Conflicting classifications of pathogenicity Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome, Inborn genetic diseases
RS2539409439 FKTN Health Risk Likely pathogenic Dilated cardiomyopathy 1X, Dilated cardiomyopathy 1X
RS2539410162 COQ4 Health Risk Pathogenic Spastic ataxia 10, autosomal recessive
RS2539410522 RDX Health Risk Pathogenic —
RS2539411480 FKTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability)
RS2539412353 FKTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability)
RS2539412643 FKTN Health Risk Likely pathogenic Dilated cardiomyopathy 1X, Dilated cardiomyopathy 1X
RS2539413215 FKTN Health Risk Likely pathogenic Dilated cardiomyopathy 1X, Dilated cardiomyopathy 1X
RS2539414037 FKTN Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2539414072 FKTN Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy
RS2539414638 RDX Health Risk Pathogenic —
RS2539415192 COQ4 Health Risk Likely pathogenic Developmental disorder, Developmental disorder
RS2539417930 CACNA1B Health Risk Pathogenic —
RS2539418643 POMT1 Health Risk Pathogenic Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with intellectual disability)
RS2539419195 FGFR2 Health Risk Likely pathogenic Pfeiffer syndrome, Pfeiffer syndrome
RS2539423213 RDX Health Risk Pathogenic —
RS2539429929 BMPR1A Health Risk Likely pathogenic Polyposis syndrome, hereditary mixed
RS2539430767 BMPR1A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS2539431082 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2539431097 BMPR1A Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Juvenile polyposis syndrome
RS2539431847 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2539432372 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2539432575 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2539433562 LRSAM1 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS2539441210 RDX Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 24, Autosomal recessive nonsyndromic hearing loss 24
RS2539442673 LRSAM1 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS2539442748 LRSAM1 Health Risk Likely pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS2539445569 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2539446205 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS2539446223 BMPR1A Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2539447975 CACNA1B Health Risk Likely pathogenic CACNA1B-related disorder, CACNA1B-related disorder
RS2539451092 LRSAM1 Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2P, Charcot-Marie-Tooth disease axonal type 2P
RS2539452586 POMT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS2539453407 POMT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS2539454813 POMT1 Health Risk Likely pathogenic Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A1
RS2539455086 POMT1 Health Risk Likely pathogenic Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2K
RS2539457972 SLC27A4 Health Risk Likely pathogenic Ichthyosis prematurity syndrome, Ichthyosis prematurity syndrome
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