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
RS1589600660 KIF11 Health Risk Pathogenic/Likely pathogenic —
RS1589600695 KIF11 Health Risk Likely pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS1589602023 CACUL1 Health Risk Likely pathogenic Flexion contracture, Flexion contracture
RS1589604288 KIF11 Health Risk Pathogenic —
RS1589607930 KIF11 Health Risk Pathogenic —
RS1589608098 MYPN Health Risk Pathogenic/Likely pathogenic Dilated cardiomyopathy 1KK, Dilated cardiomyopathy 1KK
RS1589608594 KIF11 Health Risk Pathogenic Microcephaly with or without chorioretinopathy, lymphedema
RS1589611043 CWF19L1 Health Risk Pathogenic/Likely pathogenic Autosomal recessive spinocerebellar ataxia 17, Autosomal recessive spinocerebellar ataxia 17
RS1589613893 TCTN3 Health Risk Pathogenic Orofacial-digital syndrome IV, Joubert syndrome 18
RS1589617114 PTEN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1589617199 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS1589617371 PTEN Health Risk Likely pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1589623653 ASCC1 Health Risk Pathogenic —
RS1589623689 TCTN3 Health Risk Pathogenic Orofacial-digital syndrome IV, Orofacial-digital syndrome IV
RS1589625048 SFXN4 Health Risk Pathogenic/Likely pathogenic Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome, Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
RS1589625941 CWF19L1 Health Risk Pathogenic Autosomal recessive spinocerebellar ataxia 17, Autosomal recessive spinocerebellar ataxia 17
RS1589627138 ZMIZ1 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies, Syndromic neurodevelopmental disorder
RS1589627206 ZMIZ1 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies, Syndromic neurodevelopmental disorder
RS1589628864 BAG3 Health Risk Likely pathogenic —
RS1589629026 JMJD1C Health Risk Pathogenic —
RS1589630001 BAG3 Health Risk Pathogenic Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS1589630141 BAG3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 6, Dilated cardiomyopathy 1HH
RS1589630173 BAG3 Health Risk Pathogenic Dilated cardiomyopathy 1HH, Dilated cardiomyopathy 1HH
RS1589632398 BAG3 Health Risk Pathogenic/Likely pathogenic Primary familial dilated cardiomyopathy, Myofibrillar myopathy 6
RS1589632876 BAG3 Health Risk Likely pathogenic Dilated cardiomyopathy 1HH, Dilated cardiomyopathy 1HH
RS1589640360 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS1589640429 PTEN Health Risk Pathogenic Cowden syndrome 1, Cowden syndrome 1
RS1589640471 PTEN Health Risk Pathogenic/Likely pathogenic Macrocephaly-autism syndrome, Hereditary cancer-predisposing syndrome
RS1589640495 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1589644668 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1589644721 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1589645935 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS1589645952 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS1589646100 PTEN Health Risk Likely pathogenic —
RS1589646106 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1589646225 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1589646309 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1589646321 PTEN Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS1589652681 PTEN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1589659492 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, PTEN hamartoma tumor syndrome
RS1589659775 PTEN Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Uterine corpus endometrial carcinoma
RS1589663146 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1589663253 PTEN Health Risk Pathogenic/Likely pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1589663374 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1589663442 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1589663644 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1589665532 PTEN Health Risk Likely pathogenic Cowden syndrome 1, Cowden syndrome 1
RS1589665610 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1589665622 PTEN Health Risk Conflicting classifications of pathogenicity PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1589665640 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1589665663 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1589665670 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1589665750 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1589665853 PTEN Health Risk Pathogenic/Likely pathogenic Cowden syndrome, Cowden syndrome 1
RS1589665953 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1589665989 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1589665993 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1589665998 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, PTEN hamartoma tumor syndrome
RS1589666094 PTEN Health Risk Pathogenic PTEN hamartoma tumor syndrome, Hereditary cancer-predisposing syndrome
RS1589666183 PTEN Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1589669105 PTEN Health Risk Pathogenic Global developmental delay, Global developmental delay
RS1589676711 LDB3 Health Risk Conflicting classifications of pathogenicity Myofibrillar myopathy 4, Myofibrillar myopathy 4
RS1589687052 RBP4 Health Risk Pathogenic —
RS1589690942 PDE6C Health Risk Pathogenic Cone dystrophy 4, Cone dystrophy 4
RS1589693002 PDE6C Health Risk Likely pathogenic Cone dystrophy, Cone dystrophy
RS1589698958 OAT Health Risk Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS1589700702 OAT Health Risk Likely pathogenic Ornithine aminotransferase deficiency, Ornithine aminotransferase deficiency
RS1589704707 PDE6C Health Risk Pathogenic Cone dystrophy 4, Cone dystrophy 4
RS1589705946 PDE6C Health Risk Pathogenic Cone dystrophy 4, Cone dystrophy 4
RS1589722765 FGFR2 Health Risk Pathogenic FGFR2-related craniosynostosis, FGFR2-related disorder
RS1589734405 SETX Health Risk Pathogenic/Likely pathogenic Amyotrophic lateral sclerosis type 4, Spinocerebellar ataxia
RS1589745620 EBF3 Health Risk Pathogenic Hypotonia, ataxia
RS1589757037 BMPR1A Health Risk Likely pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS1589757407 SETX Health Risk Pathogenic Spinocerebellar ataxia, autosomal recessive
RS1589762127 LGI1 Health Risk Pathogenic Epilepsy, familial temporal lobe
RS1589763169 ANK3 Health Risk Likely pathogenic —
RS1589763343 BMPR1A Health Risk Pathogenic Generalized juvenile polyposis/juvenile polyposis coli, Generalized juvenile polyposis/juvenile polyposis coli
RS1589763393 BMPR1A Health Risk Pathogenic Generalized juvenile polyposis/juvenile polyposis coli, Generalized juvenile polyposis/juvenile polyposis coli
RS1589763427 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS1589764273 BMPR1A Health Risk Pathogenic Juvenile polyposis syndrome, Juvenile polyposis syndrome
RS1589767274 EBF3 Health Risk Pathogenic Hypotonia, ataxia
RS1589767433 EBF3 Health Risk Pathogenic —
RS1589768027 BMPR1A Health Risk Pathogenic —
RS1589771134 LGI1 Health Risk Pathogenic —
RS1589776148 LGI1 Health Risk Pathogenic Autosomal dominant epilepsy with auditory features, Autosomal dominant epilepsy with auditory features
RS1589780980 SYNE1 Health Risk Likely pathogenic —
RS1589792804 HRAS Health Risk Likely pathogenic Costello syndrome, Costello syndrome
RS1589792836 HRAS Health Risk Pathogenic Arteriovenous malformation, Arteriovenous malformation
RS1589797063 TNNI2 Health Risk Pathogenic Distal arthrogryposis type 2B1, Distal arthrogryposis type 2B1
RS1589797083 TNNI2 Health Risk Likely pathogenic Distal arthrogryposis type 2B1, Distal arthrogryposis type 2B1
RS1589813539 PAX2 Health Risk Likely pathogenic Renal coloboma syndrome, Renal coloboma syndrome
RS1589813731 PAX2 Health Risk Pathogenic —
RS1589821731 PCDH15 Health Risk Likely pathogenic —
RS1589822227 TUBGCP2 Health Risk Pathogenic Pachygyria, microcephaly
RS1589824355 KAT6B Health Risk Pathogenic Blepharophimosis - intellectual disability syndrome, SBBYS type
RS1589824871 KAT6B Health Risk Likely pathogenic —
RS1589824884 KAT6B Health Risk Likely pathogenic —
RS1589828632 FGFR2 Health Risk Pathogenic Pfeiffer syndrome, Pfeiffer syndrome
RS1589831585 KAT6B Health Risk Pathogenic Blepharophimosis - intellectual disability syndrome, SBBYS type
RS1589832003 KAT6B Health Risk Pathogenic Genitopatellar syndrome, Blepharophimosis - intellectual disability syndrome
« Prev 1 ... 1086 1087 1088 1089 1090 1091 1092 ... 4509 Next »

Upload your DNA to see which variants you carry and what they mean for your health.

Get Started Free →