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
RS2133850152 PNPLA2 Health Risk Pathogenic Neutral lipid storage myopathy, Neutral lipid storage myopathy
RS2133850270 SBF2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2133851953 PNPLA2 Health Risk Likely pathogenic Abnormality of the musculature, Abnormality of the musculature
RS2133852526 TUB Health Risk Pathogenic —
RS2133853125 USH1C Health Risk Pathogenic —
RS2133855926 KCNQ1 Health Risk Pathogenic/Likely pathogenic Long QT syndrome, Cardiovascular phenotype
RS2133861507 SBF2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2133861770 SBF2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4, Charcot-Marie-Tooth disease type 4
RS2133867701 USH1C Health Risk Likely pathogenic —
RS2133868490 USH1C Health Risk Pathogenic —
RS2133870164 USH1C Health Risk Likely pathogenic —
RS2133870386 USH1C Health Risk Pathogenic —
RS2133877207 PDE6C Health Risk Pathogenic —
RS2133878965 USH1C Health Risk Likely pathogenic —
RS2133878975 PDE6C Health Risk Conflicting classifications of pathogenicity Achromatopsia, Achromatopsia
RS2133879295 PDE6C Health Risk Likely pathogenic —
RS2133879710 PDE6C Health Risk Pathogenic —
RS2133883986 PCDH15 Health Risk Pathogenic —
RS2133894054 PAX2 Health Risk Pathogenic Focal segmental glomerulosclerosis 7, Renal coloboma syndrome
RS2133894273 PAX2 Health Risk Pathogenic/Likely pathogenic Renal coloboma syndrome, Focal segmental glomerulosclerosis 7
RS2133895509 USH1C Health Risk Pathogenic —
RS2133897518 USH1C Health Risk Likely pathogenic —
RS2133897844 PAX2 Health Risk Likely pathogenic Renal hypoplasia, Renal hypoplasia
RS2133900556 ARMS2 Health Risk risk factor Age related macular degeneration 8, Age related macular degeneration 8
RS2133905257 HTRA1 Health Risk Likely pathogenic —
RS2133913091 SOX6 Health Risk Pathogenic —
RS2133917820 USH1C Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C
RS2133919636 USH1C Health Risk Pathogenic —
RS2133920848 USH1C Health Risk Likely pathogenic —
RS2133924160 PCDH15 Health Risk Likely pathogenic Usher syndrome type 1D, Usher syndrome type 1D
RS2133924837 PCDH15 Health Risk Pathogenic —
RS2133926208 UROS Health Risk Pathogenic —
RS2133927984 USH1C Health Risk Likely pathogenic Autosomal recessive nonsyndromic hearing loss 18A, Usher syndrome type 1C
RS2133928467 USH1C Health Risk Likely pathogenic —
RS2133932364 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2133932487 VPS13B Health Risk Pathogenic Cohen syndrome, Cohen syndrome
RS2133934281 TWNK Health Risk Likely pathogenic —
RS2133934343 TWNK Health Risk Likely pathogenic —
RS2133935229 NRAP Health Risk Likely pathogenic Primary dilated cardiomyopathy, Primary dilated cardiomyopathy
RS2133939614 TWNK Health Risk Pathogenic/Likely pathogenic —
RS2133939892 TWNK Health Risk Pathogenic/Likely pathogenic Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3
RS2133941618 UROS Health Risk Pathogenic —
RS2133941660 EBF3 Health Risk Pathogenic —
RS2133944245 FGFR2 Health Risk Likely pathogenic FGFR2-related craniosynostosis, FGFR2-related craniosynostosis
RS2133946382 BLNK Health Risk Pathogenic Agammaglobulinemia 4, autosomal recessive
RS2133950547 PAX2 Health Risk Pathogenic Renal coloboma syndrome, Renal coloboma syndrome
RS2133950621 PAX2 Health Risk Pathogenic Renal coloboma syndrome, Focal segmental glomerulosclerosis 7
RS2133950639 PAX2 Health Risk Pathogenic/Likely pathogenic Focal segmental glomerulosclerosis 7, Renal coloboma syndrome
RS2133951833 HPSE2 Health Risk Pathogenic Ochoa syndrome, Urofacial syndrome type 1
RS2133956255 PAX2 Health Risk Likely pathogenic Renal coloboma syndrome, Renal coloboma syndrome
RS2133956351 PAX2 Health Risk Likely pathogenic Focal segmental glomerulosclerosis 7, Focal segmental glomerulosclerosis 7
RS2133956435 PAX2 Health Risk Pathogenic Renal coloboma syndrome, Focal segmental glomerulosclerosis 7
RS2133969658 EMX2 Health Risk Pathogenic Schizencephaly, Schizencephaly
RS2133975330 FGFR2 Health Risk Likely pathogenic Levy-Hollister syndrome, Levy-Hollister syndrome
RS2133975489 LGI1 Health Risk Pathogenic/Likely pathogenic Autosomal dominant epilepsy with auditory features, Autosomal dominant epilepsy with auditory features
RS2133975843 SOX6 Health Risk Pathogenic Tolchin-Le Caignec syndrome, Tolchin-Le Caignec syndrome
RS2133977803 IARS1 Health Risk Likely pathogenic Microcephaly, Global developmental delay
RS2133980915 KCNQ1 Health Risk Conflicting classifications of pathogenicity Cardiac arrhythmia, Long QT syndrome
RS2133981154 KCNQ1 Health Risk Likely pathogenic Cardiac arrhythmia, Cardiac arrhythmia
RS2133982557 HRAS Health Risk Pathogenic Costello syndrome, Costello syndrome
RS2133986448 HPSE2 Health Risk Pathogenic Congenital anomaly of kidney and urinary tract, Congenital anomaly of kidney and urinary tract
RS2133989242 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Cardiovascular phenotype
RS2133990531 HRAS Health Risk Likely pathogenic —
RS2133990580 HRAS Health Risk Likely pathogenic Vascular malformation, Vascular malformation
RS2133990821 KCNQ1 Health Risk Pathogenic/Likely pathogenic Long QT syndrome, Long QT syndrome
RS2133990973 HRAS Health Risk Likely pathogenic Costello syndrome, Costello syndrome
RS2133991112 HRAS Health Risk Pathogenic RASopathy, RASopathy
RS2133992099 KCNQ1 Health Risk Conflicting classifications of pathogenicity Long QT syndrome, Long QT syndrome
RS2133992122 KCNQ1 Health Risk Pathogenic Long QT syndrome, Long QT syndrome
RS2133992401 KCNQ1 Health Risk Pathogenic/Likely pathogenic Cardiovascular phenotype, Cardiac arrhythmia
RS2133994286 PDZD7 Health Risk Pathogenic —
RS2133994584 PDZD7 Health Risk Likely pathogenic —
RS2133994592 MYPN Health Risk Conflicting classifications of pathogenicity Dilated cardiomyopathy 1KK, Dilated cardiomyopathy 1KK
RS2133995502 MYPN Health Risk Pathogenic Dilated cardiomyopathy 1KK, Dilated cardiomyopathy 1KK
RS2133998053 PDZD7 Health Risk Pathogenic —
RS2134001099 LGI1 Health Risk Pathogenic —
RS2134001289 LOC101928008;SBF2 Health Risk Likely pathogenic Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4B2
RS2134001459 LGI1 Health Risk Likely pathogenic Epilepsy, familial temporal lobe
RS2134002520 OTOG Health Risk Likely pathogenic —
RS2134004594 SMPD1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type B
RS2134004628 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type B
RS2134006149 SMPD1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type B
RS2134006179 SMPD1 Health Risk Pathogenic/Likely pathogenic Niemann-Pick disease, type B
RS2134006350 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type B
RS2134006592 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS2134006623 SBF2 Health Risk Pathogenic Charcot-Marie-Tooth disease type 4B2, Charcot-Marie-Tooth disease type 4
RS2134006884 SMPD1 Health Risk Pathogenic —
RS2134007236 OTOG Health Risk Pathogenic Hearing impairment, Hearing impairment
RS2134009384 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS2134009391 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS2134009550 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS2134009776 OTOG Health Risk Pathogenic Autosomal recessive nonsyndromic hearing loss 18B, Autosomal recessive nonsyndromic hearing loss 18B
RS2134010245 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type B
RS2134010621 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS2134010914 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type B
RS2134011288 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type B
RS2134011809 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
RS2134011919 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type B
RS2134012389 SMPD1 Health Risk Likely pathogenic Niemann-Pick disease, type A
RS2134012543 SMPD1 Health Risk Pathogenic Niemann-Pick disease, type A
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