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
RS2128712794 GLI3 Health Risk Likely pathogenic Hand polydactyly, Hand polydactyly
RS2128714664 TBX20 Health Risk Pathogenic Cardiovascular phenotype, Cardiovascular phenotype
RS2128714675 TBX20 Health Risk Likely pathogenic —
RS2128715250 TBX20 Health Risk Likely pathogenic —
RS2128715965 TBX20 Health Risk Pathogenic —
RS2128716140 TBX20 Health Risk Pathogenic —
RS2128716604 TBX20 Health Risk Pathogenic —
RS2128719778 PMS2 Health Risk Pathogenic Carcinoma of colon, Carcinoma of colon
RS2128720948 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colon cancer
RS2128721171 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 4
RS2128721689 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS2128721764 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2128722209 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2128722695 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2128723564 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2128725871 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2128726258 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2128726933 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 4
RS2128727664 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2128729105 CCM2 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS2128729110 CCM2 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS2128729172 CCM2 Health Risk Pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2128729177 CCM2 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS2128730228 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2128730770 GLI3 Health Risk Conflicting classifications of pathogenicity Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS2128732074 GLI3 Health Risk Pathogenic Greig cephalopolysyndactyly syndrome, Greig cephalopolysyndactyly syndrome
RS2128732140 GLI3 Health Risk Pathogenic Polydactyly, postaxial
RS2128733048 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2128736116 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 4
RS2128736312 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2128737155 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 4
RS2128737215 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2128737282 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2128737358 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2128737525 PMS2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2128738625 PKD1L1 Health Risk Likely pathogenic Heterotaxy, Heterotaxy
RS2128738764 GLI3 Health Risk Likely pathogenic Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS2128741114 PKD1L1 Health Risk Likely pathogenic Heterotaxy, visceral
RS2128741200 GLI3 Health Risk Likely pathogenic Greig cephalopolysyndactyly syndrome, Greig cephalopolysyndactyly syndrome
RS2128742642 GLI3 Health Risk Pathogenic Greig cephalopolysyndactyly syndrome, Pallister-Hall syndrome
RS2128742651 GLI3 Health Risk Pathogenic Greig cephalopolysyndactyly syndrome, Polydactyly
RS2128746806 PMS2 Health Risk Likely pathogenic Malignant tumor of breast, Malignant tumor of breast
RS2128746824 PMS2 Health Risk Pathogenic Endometrial carcinoma, Endometrial carcinoma
RS2128746842 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2128747319 CCM2 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS2128747325 CCM2 Health Risk Pathogenic —
RS2128747608 CCM2 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS2128747719 CCM2 Health Risk Likely pathogenic Cerebral cavernous malformation, Cerebral cavernous malformation
RS2128748540 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2128749171 ABCA13 Health Risk Likely pathogenic Intellectual disability without epilepsy, Intellectual disability without epilepsy
RS2128749827 CCM2 Health Risk Likely pathogenic —
RS2128749865 CCM2 Health Risk Pathogenic Cerebral cavernous malformation 2, Cerebral cavernous malformation 2
RS2128749913 CCM2 Health Risk Pathogenic —
RS2128749934 CCM2 Health Risk Pathogenic —
RS2128751733 GLI3 Health Risk Pathogenic Greig cephalopolysyndactyly syndrome, Greig cephalopolysyndactyly syndrome
RS2128754913 PMS2 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Lynch syndrome
RS2128754923 PMS2 Health Risk Pathogenic Endometrial carcinoma, Endometrial carcinoma
RS2128754982 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2128755485 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2128756503 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2128756914 BBS9 Health Risk Pathogenic Bardet-Biedl syndrome, Bardet-Biedl syndrome
RS2128757192 STX11 Health Risk Pathogenic Familial hemophagocytic lymphohistiocytosis 4, Familial hemophagocytic lymphohistiocytosis 4
RS2128759192 PKD1L1 Health Risk Pathogenic —
RS2128774241 PMS2 Health Risk Pathogenic Endometrial carcinoma, Endometrial carcinoma
RS2128775109 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2128775362 PMS2 Health Risk Likely pathogenic Lynch syndrome, Lynch syndrome
RS2128776611 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Lynch syndrome 4
RS2128781753 EYA4 Health Risk Pathogenic Autosomal dominant nonsyndromic hearing loss 10, Autosomal dominant nonsyndromic hearing loss 10
RS2128782038 ZPBP Health Risk Pathogenic Spermatogenic failure 66, Spermatogenic failure 66
RS2128782580 EYA4 Health Risk Likely pathogenic Hearing impairment, Hearing impairment
RS2128786265 PMS2 Health Risk Pathogenic/Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2128787316 PMS2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2128788145 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 4
RS2128788235 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2128788650 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary cancer-predisposing syndrome
RS2128799493 PMS2 Health Risk Likely pathogenic Breast carcinoma, Breast carcinoma
RS2128799910 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 4
RS2128801080 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2128801488 PMS2 Health Risk Pathogenic Lynch syndrome 4, Hereditary nonpolyposis colorectal neoplasms
RS2128802141 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2128802538 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 4
RS2128802890 PMS2 Health Risk Pathogenic Endometrial carcinoma, Endometrial carcinoma
RS2128804866 RHOBTB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2128805025 RHOBTB2 Health Risk Pathogenic —
RS2128807745 RHOBTB2 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2128815420 PMS2 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Hereditary nonpolyposis colorectal neoplasms
RS2128815756 PMS2 Health Risk Pathogenic Lynch syndrome 4, Lynch syndrome 4
RS2128815961 PMS2 Health Risk Likely pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2128816708 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Lynch syndrome 4
RS2128817368 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2128818786 PMS2 Health Risk Pathogenic Hereditary nonpolyposis colorectal neoplasms, Hereditary nonpolyposis colorectal neoplasms
RS2128818820 GCK Health Risk Conflicting classifications of pathogenicity Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2
RS2128818859 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young type 2, Monogenic diabetes
RS2128819092 GCK Health Risk Likely pathogenic Maturity-onset diabetes of the young type 2, Maturity-onset diabetes of the young type 2
RS2128819113 GCK Health Risk Pathogenic —
RS2128819136 GCK Health Risk Pathogenic Monogenic diabetes, Monogenic diabetes
RS2128819209 GCK Health Risk Likely pathogenic Monogenic diabetes, Monogenic diabetes
RS2128819251 PMS2 Health Risk Pathogenic Carcinoma of colon, Lynch syndrome 4
RS2128819280 GCK Health Risk Pathogenic Maturity-onset diabetes of the young, Monogenic diabetes
RS2128819357 GCK Health Risk Pathogenic Maturity-onset diabetes of the young type 2, Monogenic diabetes
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