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
RS1593133607 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1593133714 SACS Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Spastic paraplegia
RS1593144167 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1593144544 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1593144887 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1593145590 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS1593147785 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1593157923 SACS Health Risk Pathogenic Spastic paraplegia, Spastic paraplegia
RS1593181774 CDX2 Health Risk Likely pathogenic Sirenomelia, Sirenomelia
RS1593197637 SGCG Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS1593199545 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1593199583 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1593199703 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1593199801 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1593199940 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1593201632 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1593201647 BRCA2 Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1593201677 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1593201811 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1593201815 BRCA2 Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Familial cancer of breast
RS1593201819 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593201999 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593202112 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1593202166 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Familial cancer of breast
RS1593202253 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1593202262 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1593216248 SGCG Health Risk Pathogenic Autosomal recessive limb-girdle muscular dystrophy type 2C, Autosomal recessive limb-girdle muscular dystrophy type 2C
RS1593218885 CDK8 Health Risk Pathogenic Intellectual developmental disorder with hypotonia and behavioral abnormalities, Intellectual developmental disorder with hypotonia and behavioral abnormalities
RS1593218890 CDK8 Health Risk Pathogenic Intellectual developmental disorder with hypotonia and behavioral abnormalities, Intellectual developmental disorder with hypotonia and behavioral abnormalities
RS1593223800 RAB23 Health Risk Pathogenic RAB23-related Carpenter syndrome, RAB23-related Carpenter syndrome
RS1593223920 RAB23 Health Risk Pathogenic Carpenter syndrome, Carpenter syndrome
RS1593238375 MED13L Health Risk Pathogenic —
RS1593258510 B3GLCT Health Risk Pathogenic Peters plus syndrome, Peters plus syndrome
RS1593269476 CNOT2 Health Risk Pathogenic Intellectual developmental disorder with nasal speech, dysmorphic facies
RS1593275363 POLR1D Health Risk Pathogenic Treacher Collins syndrome 2, Treacher Collins syndrome 2
RS1593275448 POLR1D Health Risk Pathogenic Treacher Collins syndrome 2, Treacher Collins syndrome 2
RS1593275599 POLR1D Health Risk Likely pathogenic Treacher Collins syndrome 2, Treacher Collins syndrome 2
RS1593275616 POLR1D Health Risk Pathogenic Treacher Collins syndrome 2, Treacher Collins syndrome 2
RS1593287730 MTRFR Health Risk Conflicting classifications of pathogenicity Combined oxidative phosphorylation defect type 7, Spastic paraplegia
RS1593295876 SLC25A15 Health Risk Pathogenic Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome, Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
RS1593310364 CDK8 Health Risk Pathogenic Intellectual developmental disorder with hypotonia and behavioral abnormalities, Intellectual developmental disorder with hypotonia and behavioral abnormalities
RS1593326999 ATP8A2 Health Risk Pathogenic Cerebellar ataxia, intellectual disability
RS1593332981 GJA3 Health Risk Pathogenic Cataract 14 multiple types, Cataract 14 multiple types
RS1593351503 GJB2 Health Risk Pathogenic Noonan syndrome 1, Noonan syndrome 1
RS1593356841 PPFIBP1 Health Risk Pathogenic See cases, See cases
RS1593376626 TCTN1 Health Risk Pathogenic Joubert syndrome 13, Joubert syndrome 13
RS1593379577 SYNE1 Health Risk Pathogenic —
RS1593402927 COG6 Health Risk Likely pathogenic COG6-congenital disorder of glycosylation, COG6-congenital disorder of glycosylation
RS1593410369 ATP8A2 Health Risk Likely pathogenic Cerebellar ataxia, intellectual disability
RS1593411974 RB1 Health Risk Pathogenic/Likely pathogenic Retinoblastoma, Retinoblastoma
RS1593412002 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary retinoblastoma
RS1593412158 RB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Retinoblastoma
RS1593412261 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1593412262 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1593414337 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Retinoblastoma
RS1593418044 COG6 Health Risk Likely pathogenic —
RS1593418085 COG6 Health Risk Likely pathogenic COG6-congenital disorder of glycosylation, COG6-congenital disorder of glycosylation
RS1593421620 COG6 Health Risk Pathogenic COG6-congenital disorder of glycosylation, COG6-congenital disorder of glycosylation
RS1593434175 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1593434250 RB1 Health Risk Conflicting classifications of pathogenicity Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1593438023 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1593443514 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1593445096 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1593445220 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1593445246 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1593448449 RB1 Health Risk Likely pathogenic Retinoblastoma, Retinoblastoma
RS1593453973 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1593454115 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1593455621 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Retinoblastoma
RS1593456963 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1593457065 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1593457070 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary retinoblastoma
RS1593457108 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1593457156 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1593470515 RNASEH2B Health Risk Pathogenic/Likely pathogenic Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2
RS1593477057 SUCLA2 Health Risk Likely pathogenic Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
RS1593479845 SUCLA2 Health Risk Pathogenic Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
RS1593528532 CPAP Health Risk Likely pathogenic —
RS1593529868 RB1 Health Risk Likely pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1593531290 ATP8A2 Health Risk Pathogenic Cerebellar ataxia, intellectual disability
RS1593531889 RB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Retinoblastoma
RS1593532084 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1593532101 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1593534586 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1593534748 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1593538130 RB1 Health Risk Pathogenic/Likely pathogenic Malignant tumor of urinary bladder, Retinoblastoma
RS1593538155 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1593538175 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1593538220 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1593538236 RB1 Health Risk Pathogenic Retinoblastoma, Sarcoma
RS1593539163 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1593539225 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1593539366 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1593539386 RB1 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Retinoblastoma
RS1593539435 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1593539493 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1593539538 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1593544633 RB1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Retinoblastoma
RS1593544647 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1593576872 ATP8A2 Health Risk Likely pathogenic Cerebellar ataxia, intellectual disability
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