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
RS2541492816 FREM2 Health Risk Pathogenic —
RS2541493503 ANO4 Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS2541494253 FREM2 Health Risk Likely pathogenic —
RS2541494324 FREM2 Health Risk Pathogenic —
RS2541495847 FREM2 Health Risk Pathogenic/Likely pathogenic Isolated cryptophthalmia, Fraser syndrome 2
RS2541497232 FREM2 Health Risk Likely pathogenic —
RS2541497277 FREM2 Health Risk Likely pathogenic Fraser syndrome 2, Fraser syndrome 2
RS2541498472 RNASEH2B Health Risk Likely pathogenic Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2
RS2541504813 FREM2 Health Risk Likely pathogenic Fraser syndrome 1, Fraser syndrome 1
RS2541507210 FREM2 Health Risk Likely pathogenic FREM2-related disorder, FREM2-related disorder
RS2541507235 FREM2 Health Risk Likely pathogenic Fraser syndrome 2, Fraser syndrome 2
RS2541507566 FREM2 Health Risk Likely pathogenic —
RS2541510478 ABCC9 Health Risk Likely pathogenic Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O
RS2541520331 ADAMTS15 Health Risk Pathogenic Arthrogryposis, distal
RS2541521563 CEP164 Health Risk Likely pathogenic Nephronophthisis 15, Nephronophthisis 15
RS2541531608 RNASEH2B Health Risk Pathogenic Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2
RS2541533331 ANO4 Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS2541541908 SPTAN1 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2541543792 RNASEH2B Health Risk Likely pathogenic Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2
RS2541545118 ADAMTS15 Health Risk Likely pathogenic Arthrogryposis, distal
RS2541567891 CEP164 Health Risk Pathogenic Nephronophthisis 15, Nephronophthisis 15
RS2541569380 CEP164 Health Risk Pathogenic Nephronophthisis 15, Nephronophthisis 15
RS2541594859 PTPRQ Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 84A, Autosomal recessive nonsyndromic hearing loss 84A
RS2541600597 PTPRQ Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 84A, Autosomal recessive nonsyndromic hearing loss 84A
RS2541615817 CEP164 Health Risk Pathogenic Nephronophthisis 15, Nephronophthisis 15
RS2541617396 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome
RS2541617604 EHMT1 Health Risk Pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS2541620694 RNASEH2B Health Risk Pathogenic Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2
RS2541627484 ABCC9 Health Risk Likely pathogenic Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O
RS2541632016 KPNA3 Health Risk Pathogenic Spastic paraplegia 88, autosomal dominant
RS2541632753 KPNA3 Health Risk Pathogenic Spastic paraplegia 88, autosomal dominant
RS2541635988 KPNA3 Health Risk Pathogenic Spastic paraplegia 88, autosomal dominant
RS2541636017 KPNA3 Health Risk Pathogenic Spastic paraplegia 88, autosomal dominant
RS2541636062 KPNA3 Health Risk Likely pathogenic Spastic paraplegia 88, autosomal dominant
RS2541647390 KPNA3 Health Risk Likely pathogenic —
RS2541667090 ABCC9 Health Risk Pathogenic Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O
RS2541667683 ABCC9 Health Risk Pathogenic Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O
RS2541668124 ABCC9 Health Risk Pathogenic Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O
RS2541668805 SUCLA2 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
RS2541673501 SUCLA2 Health Risk Pathogenic Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
RS2541675859 EIF2B1 Health Risk Pathogenic —
RS2541676016 EIF2B1 Health Risk Likely pathogenic —
RS2541676186 EIF2B1 Health Risk Likely pathogenic —
RS2541677216 ABCC9 Health Risk Pathogenic Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O
RS2541678147 CEP83 Health Risk Pathogenic Nephronophthisis 18, Nephronophthisis 18
RS2541679076 EIF2B1 Health Risk Pathogenic —
RS2541679267 EIF2B1 Health Risk Likely pathogenic —
RS2541682153 EIF2B1 Health Risk Likely pathogenic —
RS2541687655 CPAP Health Risk Likely pathogenic CENPJ-related disorder, CENPJ-related disorder
RS2541687729 CPAP Health Risk Pathogenic —
RS2541694352 CPAP Health Risk Pathogenic —
RS2541695491 FANCC Health Risk Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS2541698973 FANCC Health Risk Pathogenic Fanconi anemia, Fanconi anemia
RS2541701286 FANCC Health Risk Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS2541701808 FANCC Health Risk Likely pathogenic Fanconi anemia complementation group C, Fanconi anemia complementation group C
RS2541724555 ACBD5 Health Risk Pathogenic —
RS2541735680 ABCC9 Health Risk Pathogenic Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O
RS2541736804 ABCC9 Health Risk Likely pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2541745804 TCTN2 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2541746245 TCTN2 Health Risk Pathogenic —
RS2541746254 TCTN2 Health Risk Likely pathogenic Meckel-Gruber syndrome, Joubert syndrome
RS2541751074 TCTN2 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2541771087 CEP164 Health Risk Pathogenic Nephronophthisis 15, Nephronophthisis 15
RS2541775874 TCTN2 Health Risk Likely pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2541781408 EHMT1 Health Risk Likely pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS2541792114 TCTN2 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2541798281 TCTN2 Health Risk Pathogenic/Likely pathogenic Joubert syndrome and related disorders, Meckel syndrome
RS2541806985 TCTN2 Health Risk Pathogenic Joubert syndrome, Meckel-Gruber syndrome
RS2541810812 TCTN2 Health Risk Likely pathogenic Joubert syndrome 24, Joubert syndrome 24
RS2541822774 ATP6V0A2 Health Risk Likely pathogenic Cutis laxa with osteodystrophy, Cutis laxa with osteodystrophy
RS2541827197 ABCC9 Health Risk Conflicting classifications of pathogenicity Cardiovascular phenotype, Dilated cardiomyopathy 1O
RS2541833313 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2541837678 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2541841120 POLE Health Risk Pathogenic —
RS2541846029 ATP6V0A2 Health Risk Pathogenic ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation
RS2541847990 ATP6V0A2 Health Risk Conflicting classifications of pathogenicity ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation
RS2541854318 POLE Health Risk Pathogenic —
RS2541855859 POLE Health Risk Conflicting classifications of pathogenicity —
RS2541856342 POLE Health Risk Pathogenic —
RS2541856897 WBP4 Health Risk Pathogenic/Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder with hypotonia
RS2541859093 WBP4 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2541859702 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2541859762 POLE Health Risk Pathogenic —
RS2541860346 POLE Health Risk Pathogenic —
RS2541863349 POLE Health Risk Pathogenic —
RS2541865278 ATP6V0A2 Health Risk Pathogenic ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation
RS2541868865 POLE Health Risk Pathogenic —
RS2541871623 ATP6V0A2 Health Risk Pathogenic ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation
RS2541872719 ATP6V0A2 Health Risk Likely pathogenic ALG9 congenital disorder of glycosylation, ALG9 congenital disorder of glycosylation
RS2541877986 ABCC9 Health Risk Pathogenic Dilated cardiomyopathy 1O, Dilated cardiomyopathy 1O
RS2541878110 EHMT1 Health Risk Likely pathogenic Kleefstra syndrome 1, Kleefstra syndrome 1
RS2541878282 ATP6V0A2 Health Risk Likely pathogenic Cutis laxa, Cutis laxa
RS2541879513 EHMT1 Health Risk Likely pathogenic —
RS2541880452 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2541880994 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2541881067 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2541881074 POLE Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2541881193 POLE Health Risk Pathogenic —
RS2541883373 POLE Health Risk Pathogenic —
RS2541883589 POLE Health Risk Pathogenic —
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