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
RS2092543367 GJB1 Health Risk Conflicting classifications of pathogenicity Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS2092543877 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth disease X-linked dominant 1, Charcot-Marie-Tooth Neuropathy X
RS2092544789 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS2092545197 GJB1 Health Risk Pathogenic —
RS2092545247 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS2092545291 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS2092546021 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS2092546039 GJB1 Health Risk Pathogenic Charcot-Marie-Tooth Neuropathy X, Charcot-Marie-Tooth Neuropathy X
RS2092552533 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS2092555939 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2092557654 PKD1 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease
RS2092566273 PKD1 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease
RS2092568887 KMT2C Health Risk Conflicting classifications of pathogenicity Kleefstra syndrome 2, Kleefstra syndrome 2
RS2092569095 SF3B4 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2092586827 SF3B4 Health Risk Pathogenic —
RS2092587080 PIGL Health Risk Likely pathogenic —
RS2092587749 SF3B4 Health Risk Likely pathogenic —
RS2092590647 PKD1 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease
RS2092591029 SF3B4 Health Risk Pathogenic —
RS2092591227 SF3B4 Health Risk Pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2092591934 PKD1 Health Risk Likely pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2092592999 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2092593686 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS2092593850 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2092594790 PKD1 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease
RS2092595963 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2092596212 PKD1 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease
RS2092598385 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2092599090 PKD1 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease
RS2092600549 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2092600667 PKD1 Health Risk Pathogenic/Likely pathogenic Autosomal dominant polycystic kidney disease, Polycystic kidney disease
RS2092601367 PKD1 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease
RS2092604224 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2092604612 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2092614697 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2092614761 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS2092615974 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2092628618 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2092629130 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2092633467 CYP24A1 Health Risk Pathogenic Hypercalcemia, infantile
RS2092636569 CYP24A1 Health Risk Pathogenic —
RS2092638111 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2092640687 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2092640827 PKD1 Health Risk Pathogenic PKD1-related disorder, PKD1-related disorder
RS2092646077 PKD1 Health Risk Pathogenic/Likely pathogenic Polycystic kidney disease, adult type
RS2092647090 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS2092648005 PKD1 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Polycystic kidney disease
RS2092649198 PKD1 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease
RS2092660360 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS2092660457 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2092660647 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS2092661241 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS2092661409 PKD1 Health Risk Likely pathogenic —
RS2092661595 PKD1 Health Risk Pathogenic Autosomal dominant polycystic kidney disease, Autosomal dominant polycystic kidney disease
RS2092662592 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2092665134 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2092665584 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2092665731 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS2092665918 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2092665938 PKD1 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Polycystic kidney disease
RS2092667308 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2092670456 PKD1 Health Risk Likely pathogenic —
RS2092672595 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2092672656 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2092673013 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2092673393 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS2092673697 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS2092678870 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS2092679105 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2092679766 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS2092683412 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS2092683440 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2092683596 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2092684104 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2092684130 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS2092684310 PKD1 Health Risk Likely pathogenic Polycystic kidney disease, adult type
RS2092684328 PKD1 Health Risk Pathogenic Polycystic kidney disease, Polycystic kidney disease
RS2092684358 PKD1 Health Risk Pathogenic Polycystic kidney disease, adult type
RS2092686792 PKD1 Health Risk Conflicting classifications of pathogenicity Polycystic kidney disease, adult type
RS2092730732 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2092784129 HHAT Health Risk Pathogenic Chondrodysplasia-pseudohermaphroditism syndrome, Chondrodysplasia-pseudohermaphroditism syndrome
RS2092816377 DEPDC5 Health Risk Pathogenic Familial focal epilepsy with variable foci, Epilepsy
RS2092817019 DEPDC5 Health Risk Likely pathogenic Epilepsy, familial focal
RS2092830420 SMPX Health Risk Likely pathogenic Hearing loss, X-linked 4
RS2092834877 MYO18B Health Risk Likely pathogenic —
RS2092847994 TTN Health Risk Likely pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G
RS2092857726 TTN Health Risk Likely pathogenic Cardiovascular phenotype, Dilated cardiomyopathy 1G
RS2092876200 PCDH15 Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 23, Autosomal recessive nonsyndromic hearing loss 23
RS2092877322 TTN Health Risk Likely pathogenic Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J
RS2092877701 PCDH15 Health Risk Pathogenic —
RS2092878502 PCDH15 Health Risk Pathogenic —
RS2092905757 NAGLU Health Risk Likely pathogenic —
RS2092905845 NAGLU Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS2092906340 NAGLU Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS2092906798 NAGLU Health Risk Pathogenic/Likely pathogenic Mucopolysaccharidosistype IIIB, Mucopolysaccharidosis
RS2092906864 NAGLU Health Risk Pathogenic Charcot-Marie-Tooth disease axonal type 2V, Mucopolysaccharidosis
RS2092909477 NAGLU Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS2092909557 NAGLU Health Risk Conflicting classifications of pathogenicity Mucopolysaccharidosis, MPS-III-B
RS2092909726 NAGLU Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-B
RS2092912895 NAGLU Health Risk Likely pathogenic Mucopolysaccharidosis, MPS-III-B
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