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
RS2529972387 LRAT Health Risk Pathogenic —
RS2529972515 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2529972867 ARL6 Health Risk Likely pathogenic Retinitis pigmentosa 55, Bardet-Biedl syndrome 3
RS2529973359 LRAT Health Risk Pathogenic —
RS2529974016 ARL6 Health Risk Pathogenic Bardet-Biedl syndrome 3, Retinitis pigmentosa 55
RS2529974081 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2529974099 PCCB Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS2529974111 PCCB Health Risk Conflicting classifications of pathogenicity Propionic acidemia, Propionic acidemia
RS2529974215 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2529974319 PCCB Health Risk Conflicting classifications of pathogenicity PCCB-related disorder, Propionic acidemia
RS2529974362 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2529975182 ARL6 Health Risk Pathogenic Bardet-Biedl syndrome 3, Retinitis pigmentosa 55
RS2529977115 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2529977421 PCCB Health Risk Pathogenic Propionic acidemia, Propionic acidemia
RS2529980257 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2529980304 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2529980344 PCCB Health Risk Likely pathogenic Propionic acidemia, Propionic acidemia
RS2529994767 LHCGR Health Risk Likely pathogenic —
RS2530008022 STAG1 Health Risk Likely pathogenic Intellectual disability, autosomal dominant 47
RS2530014641 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2530014786 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2530021619 STAG1 Health Risk Likely pathogenic —
RS2530023546 ANKRD17 Health Risk Likely pathogenic Chopra-Amiel-Gordon syndrome, Chopra-Amiel-Gordon syndrome
RS2530025111 LOXL3 Health Risk Pathogenic Myopia 28, autosomal recessive
RS2530031168 STAG1 Health Risk Likely pathogenic —
RS2530032021 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2530032256 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2530032320 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2530032498 DMD Health Risk Pathogenic Duchenne muscular dystrophy, Duchenne muscular dystrophy
RS2530033254 TREX1 Health Risk Pathogenic Aicardi-Goutieres syndrome 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
RS2530033753 TREX1 Health Risk Pathogenic Aicardi-Goutieres syndrome 1, Chilblain lupus 1
RS2530033946 TREX1 Health Risk Pathogenic Aicardi-Goutieres syndrome 1, Chilblain lupus 1
RS2530034050 TREX1 Health Risk Pathogenic Aicardi-Goutieres syndrome 1, Chilblain lupus 1
RS2530034152 TREX1 Health Risk Likely pathogenic Neurodevelopmental disorder, Neurodevelopmental disorder
RS2530034759 TREX1 Health Risk Pathogenic Aicardi-Goutieres syndrome 1, Chilblain lupus 1
RS2530034972 TREX1 Health Risk Pathogenic Aicardi-Goutieres syndrome 1, Chilblain lupus 1
RS2530035923 TREX1 Health Risk Pathogenic Aicardi-Goutieres syndrome 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
RS2530037311 TREX1 Health Risk Pathogenic/Likely pathogenic Aicardi-Goutieres syndrome 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
RS2530038411 TREX1 Health Risk Pathogenic Aicardi-Goutieres syndrome 1, Chilblain lupus 1
RS2530038732 TREX1 Health Risk Pathogenic Aicardi-Goutieres syndrome 1, Chilblain lupus 1
RS2530040403 TREX1 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 1, Aicardi-Goutieres syndrome 1
RS2530040771 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2530041483 TREX1 Health Risk Pathogenic Aicardi-Goutieres syndrome 1, Chilblain lupus 1
RS2530041997 TREX1 Health Risk Likely pathogenic Aicardi-Goutieres syndrome 1, Aicardi-Goutieres syndrome 1
RS2530042757 TREX1 Health Risk Likely pathogenic —
RS2530043474 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2530043718 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2530045961 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2530046089 TREX1 Health Risk Conflicting classifications of pathogenicity Aicardi-Goutieres syndrome 1, Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
RS2530048530 TREX1 Health Risk Likely pathogenic Retinal dystrophy, Retinal dystrophy
RS2530057514 MCCC1 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2530057605 MCCC1 Health Risk Likely pathogenic MCCC1-related disorder, MCCC1-related disorder
RS2530057792 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2530063503 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2530068462 GLRB Health Risk Pathogenic Hyperekplexia 2, Hyperekplexia 2
RS2530068914 GLRB Health Risk Pathogenic Hyperekplexia 2, Hyperekplexia 2
RS2530075944 SEC24D Health Risk Pathogenic —
RS2530076755 SEC24D Health Risk Pathogenic —
RS2530078152 STAG1 Health Risk Pathogenic —
RS2530082710 GLRB Health Risk Likely pathogenic Seizure, Seizure
RS2530083642 FAT4 Health Risk Pathogenic/Likely pathogenic Hennekam lymphangiectasia-lymphedema syndrome 2, Hennekam lymphangiectasia-lymphedema syndrome 2
RS2530086166 SCLT1 Health Risk Pathogenic —
RS2530086190 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2530101395 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2530101486 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2530101552 MCCC1 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2530102458 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2530126061 TTN Health Risk Likely pathogenic TTN-related disorder, TTN-related disorder
RS2530127005 FBXW7 Health Risk Likely pathogenic Developmental delay, hypotonia
RS2530128064 MCCC1 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2530130369 MCCC1 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2530136674 SEC24D Health Risk Likely pathogenic Cole-Carpenter syndrome 2, Cole-Carpenter syndrome 2
RS2530145157 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2530166738 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2530166841 MCCC1 Health Risk Pathogenic/Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2530166964 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2530169373 PROM1 Health Risk Pathogenic —
RS2530190552 TTN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2530191471 FBXW7 Health Risk Likely pathogenic Developmental delay, hypotonia
RS2530194325 USP53 Health Risk Likely pathogenic Cholestasis, progressive familial intrahepatic
RS2530194420 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2530195072 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2530206539 SEC24D Health Risk Likely pathogenic Cole-Carpenter syndrome 2, Cole-Carpenter syndrome 2
RS2530214673 BMPR1B Health Risk Likely pathogenic Type A2 brachydactyly, Acromesomelic dysplasia 3
RS2530218156 FBXW7 Health Risk Likely pathogenic FBXW7-related disorder, FBXW7-related disorder
RS2530219785 TTN Health Risk Conflicting classifications of pathogenicity TTN-related disorder, TTN-related disorder
RS2530223985 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2530229386 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2530234915 FBXW7 Health Risk Likely pathogenic Developmental delay, hypotonia
RS2530246729 SEC24D Health Risk Pathogenic —
RS2530259419 NAA15 Health Risk Pathogenic —
RS2530259652 NAA15 Health Risk Likely pathogenic —
RS2530264975 USP53 Health Risk Likely pathogenic Cholestasis, progressive familial intrahepatic
RS2530267413 SEC24D Health Risk Pathogenic —
RS2530272868 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2530273568 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2530273629 MCCC1 Health Risk Likely pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2530274504 MCCC1 Health Risk Pathogenic 3-methylcrotonyl-CoA carboxylase 1 deficiency, 3-methylcrotonyl-CoA carboxylase 1 deficiency
RS2530278731 UBA5 Health Risk Pathogenic —
RS2530286004 SEC24D Health Risk Pathogenic —
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