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
RS1555254256 SACS Health Risk Pathogenic Inborn genetic diseases, Spastic paraplegia
RS1555254439 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS1555254489 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Charlevoix-Saguenay spastic ataxia
RS1555254734 SACS Health Risk Likely pathogenic Charlevoix-Saguenay spastic ataxia, Spastic paraplegia
RS1555255328 SACS Health Risk Pathogenic/Likely pathogenic Spastic paraplegia, Charlevoix-Saguenay spastic ataxia
RS1555255676 SACS Health Risk Pathogenic Charlevoix-Saguenay spastic ataxia, Charcot-Marie-Tooth disease X-linked dominant 1
RS1555256440 SUCLA2 Health Risk Conflicting classifications of pathogenicity Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
RS1555257069 POMP Health Risk Likely pathogenic —
RS1555257073 POMP Health Risk Pathogenic Proteasome-associated autoinflammatory syndrome 2, Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
RS1555257075 POMP Health Risk Pathogenic Proteasome-associated autoinflammatory syndrome 2, Proteasome-associated autoinflammatory syndrome 2
RS1555257076 POMP Health Risk Pathogenic Proteasome-associated autoinflammatory syndrome 2, Proteasome-associated autoinflammatory syndrome 2
RS1555257383 RNASEH2B Health Risk Pathogenic Aicardi-Goutieres syndrome 2, Aicardi-Goutieres syndrome 2
RS1555258369 MYL2 Health Risk Conflicting classifications of pathogenicity Familial isolated restrictive cardiomyopathy, Hypertrophic cardiomyopathy 10
RS1555260207 HNF1A Health Risk Pathogenic Monogenic diabetes, Maturity-onset diabetes of the young
RS1555260833 FREM2 Health Risk Pathogenic —
RS1555261304 FREM2 Health Risk Pathogenic Fraser syndrome 2, Fraser syndrome 2
RS1555262375 ALDH18A1 Health Risk Pathogenic ALDH18A1-related de Barsy syndrome, Cutis laxa
RS1555263116 SPART Health Risk Likely pathogenic —
RS1555263787 ATP8A2 Health Risk Likely pathogenic —
RS1555264243 ALDH18A1 Health Risk Likely pathogenic ALDH18A1-related de Barsy syndrome, ALDH18A1-related de Barsy syndrome
RS1555264685 UNG Health Risk Likely pathogenic —
RS1555267558 PTPN11 Health Risk Likely pathogenic RASopathy, Noonan syndrome 1
RS1555267839 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1555268564 PUS1 Health Risk Pathogenic/Likely pathogenic Myopathy, lactic acidosis
RS1555268712 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1555269154 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1555269488 GNPTAB Health Risk Pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1555269815 UBE3B Health Risk Pathogenic Oculocerebrofacial syndrome, Kaufman type
RS1555270066 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1555270113 PTPN11 Health Risk Pathogenic —
RS1555270321 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1555270428 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1555271215 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1555271217 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1555271298 POLR1D Health Risk Likely pathogenic —
RS1555271308 POLR1D Health Risk Pathogenic —
RS1555271865 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1555271868 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1555273567 CLN5 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5
RS1555273604 CLN5 Health Risk Pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis
RS1555273609 CLN5 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5
RS1555273881 CLN5 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis, Neuronal ceroid lipofuscinosis 5
RS1555273882 CLN5 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5
RS1555273992 CLN5 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis
RS1555274005 CLN5 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5
RS1555274014 CLN5 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5
RS1555274254 MMAB Health Risk Pathogenic Methylmalonic aciduria, cblB type
RS1555274312 CLN5 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5
RS1555274337 CLN5 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5
RS1555274338 CLN5 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis
RS1555274343 CLN5 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis
RS1555274344 CLN5 Health Risk Pathogenic/Likely pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis
RS1555274365 CLN5 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis
RS1555274369 CLN5 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis
RS1555274373 CLN5 Health Risk Pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis
RS1555274387 CLN5 Health Risk Likely pathogenic Neuronal ceroid lipofuscinosis 5, Neuronal ceroid lipofuscinosis 5
RS1555274484 MMAB Health Risk Likely pathogenic Methylmalonic aciduria, cblB type
RS1555274493 MMAB Health Risk Likely pathogenic Methylmalonic aciduria, cblB type
RS1555274496 MMAB Health Risk Pathogenic/Likely pathogenic Methylmalonic aciduria, cblB type
RS1555274497 MMAB Health Risk Likely pathogenic Methylmalonic aciduria, cblB type
RS1555275604 MMAB Health Risk Likely pathogenic Methylmalonic aciduria, cblB type
RS1555276160 MMAB Health Risk Likely pathogenic Methylmalonic aciduria, cblB type
RS1555277061 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Mucolipidosis type II
RS1555277081 GNPTAB Health Risk Likely pathogenic Mucolipidosis type II, Pseudo-Hurler polydystrophy
RS1555277827 COG6 Health Risk Pathogenic COG6-congenital disorder of glycosylation, COG6-congenital disorder of glycosylation
RS1555279195 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1555279210 RB1 Health Risk Pathogenic/Likely pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1555279212 RB1 Health Risk Pathogenic Retinoblastoma, Retinoblastoma
RS1555279228 RB1 Health Risk Pathogenic Retinoblastoma, Hereditary cancer-predisposing syndrome
RS1555279757 MVK Health Risk Conflicting classifications of pathogenicity Mevalonic aciduria, Hyperimmunoglobulin D with periodic fever
RS1555279958 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1555279969 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1555280053 BRCA2 Health Risk Pathogenic/Likely pathogenic Breast-ovarian cancer, familial
RS1555280073 BRCA2 Health Risk Pathogenic Breast neoplasm, Breast neoplasm
RS1555280093 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555280096 BRCA2 Health Risk Conflicting classifications of pathogenicity Malignant tumor of breast, Hereditary breast ovarian cancer syndrome
RS1555280102 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555280115 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1555280325 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1555280326 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1555280333 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1555280340 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555280354 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Familial cancer of breast
RS1555280367 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555280374 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1555280383 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555280388 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555280404 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1555280423 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555280425 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary breast ovarian cancer syndrome
RS1555280427 BRCA2 Health Risk Pathogenic Breast-ovarian cancer, familial
RS1555280838 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1555280839 BRCA2 Health Risk Conflicting classifications of pathogenicity Breast-ovarian cancer, familial
RS1555280840 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary breast ovarian cancer syndrome
RS1555280845 BRCA2 Health Risk Pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1555280854 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555280855 BRCA2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS1555280859 BRCA2 Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
RS1555280869 BRCA2 Health Risk Pathogenic/Likely pathogenic Hereditary breast ovarian cancer syndrome, Breast-ovarian cancer
RS1555280870 BRCA2 Health Risk Conflicting classifications of pathogenicity Hereditary breast ovarian cancer syndrome, Hereditary cancer-predisposing syndrome
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