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
RS2145750415 CHEK2 Health Risk Likely pathogenic Malignant tumor of breast, Malignant tumor of breast
RS2145750566 CHEK2 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2145752321 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2145752629 EP300 Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2145752709 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2145753179 SMARCA4 Health Risk Likely pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2145753620 PLA2G6 Health Risk Pathogenic Neurodegeneration with brain iron accumulation 2B, Neurodegeneration with brain iron accumulation 2B
RS2145753835 PLA2G6 Health Risk Likely pathogenic Infantile neuroaxonal dystrophy, Infantile neuroaxonal dystrophy
RS2145754777 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2145756375 EP300 Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2145756387 EP300 Health Risk Pathogenic —
RS2145756643 SYNJ1 Health Risk Pathogenic Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy
RS2145759333 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2145760379 SOX10 Health Risk Likely pathogenic PCWH syndrome, PCWH syndrome
RS2145760739 BRIP1 Health Risk Conflicting classifications of pathogenicity Familial cancer of breast, Fanconi anemia complementation group J
RS2145761047 SOX10 Health Risk Pathogenic/Likely pathogenic Waardenburg syndrome type 2E, Monogenic hearing loss
RS2145761225 BRIP1 Health Risk Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2145761239 BRIP1 Health Risk Pathogenic/Likely pathogenic Breast carcinoma, Hereditary cancer-predisposing syndrome
RS2145761347 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2145761378 SOX10 Health Risk Pathogenic PCWH syndrome, PCWH syndrome
RS2145761401 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2145761680 SOX10 Health Risk Likely pathogenic PCWH syndrome, PCWH syndrome
RS2145762711 EP300 Health Risk Pathogenic Colorectal cancer, Colorectal cancer
RS2145763904 BRIP1 Health Risk Pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2145765098 EP300 Health Risk Pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2145766215 BRIP1 Health Risk Conflicting classifications of pathogenicity Hereditary cancer-predisposing syndrome, Fanconi anemia complementation group J
RS2145766390 EP300 Health Risk Pathogenic —
RS2145766457 EP300 Health Risk Likely pathogenic Rubinstein-Taybi syndrome due to EP300 haploinsufficiency, Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
RS2145766541 EP300 Health Risk Likely pathogenic Rare genetic intellectual disability, Rare genetic intellectual disability
RS2145766893 HMOX1 Health Risk Pathogenic/Likely pathogenic Heme oxygenase 1 deficiency, Heme oxygenase 1 deficiency
RS2145767071 BRIP1 Health Risk Likely pathogenic Familial cancer of breast, Fanconi anemia complementation group J
RS2145768136 SOX10 Health Risk Likely pathogenic Waardenburg syndrome type 4C, Waardenburg syndrome type 4C
RS2145768352 SOX10 Health Risk Pathogenic Waardenburg syndrome type 2E, Waardenburg syndrome type 2E
RS2145768481 SOX10 Health Risk Pathogenic Waardenburg syndrome type 4C, Waardenburg syndrome type 2E
RS2145768498 SOX10 Health Risk Conflicting classifications of pathogenicity —
RS2145768519 SOX10 Health Risk Likely pathogenic —
RS2145768544 SOX10 Health Risk Pathogenic/Likely pathogenic Deafness with anatomical inner ear anomalies, PCWH syndrome
RS2145769010 SYNJ1 Health Risk Likely pathogenic Early-onset Parkinson disease 20, Developmental and epileptic encephalopathy
RS2145769898 EP300 Health Risk Likely pathogenic —
RS2145770192 PLA2G6 Health Risk Pathogenic/Likely pathogenic Infantile neuroaxonal dystrophy, Neurodegeneration with brain iron accumulation 2B
RS2145770256 EP300 Health Risk Likely pathogenic —
RS2145770748 SMARCA4 Health Risk Likely pathogenic Rhabdoid tumor predisposition syndrome 2, Rhabdoid tumor predisposition syndrome 2
RS2145771075 DMC1 Health Risk Pathogenic Azoospermia, Azoospermia
RS2145774426 KCNQ2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2145774465 KCNQ2 Health Risk Pathogenic/Likely pathogenic KCNQ2-related disorder, Early-infantile DEE
RS2145774562 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS2145774563 KCNQ2 Health Risk Likely pathogenic Inborn genetic diseases, Early-infantile DEE
RS2145774598 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2145774625 KCNQ2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 7
RS2145774638 KCNQ2 Health Risk Pathogenic/Likely pathogenic Seizures, benign familial neonatal
RS2145774681 KCNQ2 Health Risk Conflicting classifications of pathogenicity Early-infantile DEE, Early-infantile DEE
RS2145774742 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2145774901 KCNQ2 Health Risk Pathogenic Inborn genetic diseases, Early-infantile DEE
RS2145775420 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2145775614 KCNQ2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2145775795 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, 7
RS2145775805 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS2145776110 KCNQ2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 7
RS2145776911 SOX10 Health Risk Likely pathogenic Waardenburg syndrome type 1, Waardenburg syndrome type 1
RS2145776948 SOX10 Health Risk Pathogenic PCWH syndrome, PCWH syndrome
RS2145776981 SOX10 Health Risk Pathogenic Waardenburg syndrome type 4C, Waardenburg syndrome type 4C
RS2145776991 SOX10 Health Risk Pathogenic Waardenburg syndrome type 1, Waardenburg syndrome type 1
RS2145777042 SOX10 Health Risk Likely pathogenic Waardenburg syndrome type 1, Waardenburg syndrome type 4C
RS2145777129 SOX10 Health Risk Pathogenic Waardenburg syndrome type 1, Waardenburg syndrome type 1
RS2145777226 SOX10 Health Risk Pathogenic PCWH syndrome, Waardenburg syndrome type 1
RS2145777238 SOX10 Health Risk Pathogenic Waardenburg syndrome type 2E, Waardenburg syndrome type 2E
RS2145777243 WDR62 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS2145777262 SOX10 Health Risk Pathogenic —
RS2145777835 SOX10 Health Risk Pathogenic Waardenburg syndrome type 2E, Waardenburg syndrome type 2E
RS2145778708 KCNQ2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2145778884 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2145778948 KCNQ2 Health Risk Pathogenic KCNQ2-related disorder, KCNQ2-related disorder
RS2145779070 SMARCA4 Health Risk Pathogenic Rhabdoid tumor predisposition syndrome 2, Hereditary cancer-predisposing syndrome
RS2145779218 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2145779397 KCNQ2 Health Risk Pathogenic Developmental and epileptic encephalopathy, Developmental and epileptic encephalopathy
RS2145779418 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2145779552 KCNQ2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2145779680 KCNQ2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 7
RS2145779858 KCNQ2 Health Risk Likely pathogenic Seizures, benign familial neonatal
RS2145780100 PLA2G6 Health Risk Pathogenic —
RS2145783332 RTTN Health Risk Likely pathogenic Microcephalic primordial dwarfism due to RTTN deficiency, Microcephalic primordial dwarfism due to RTTN deficiency
RS2145784292 RYR1 Health Risk Pathogenic RYR1-related disorder, RYR1-related disorder
RS2145784297 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Familial cancer of breast
RS2145784669 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2145784977 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2145785282 CHEK2 Health Risk Likely pathogenic CHEK2-related cancer predisposition, Hereditary cancer-predisposing syndrome
RS2145785415 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2145786618 CHEK2 Health Risk Pathogenic Familial cancer of breast, Familial cancer of breast
RS2145786737 CHEK2 Health Risk Likely pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2145788754 SLC7A9 Health Risk Pathogenic Cystinuria, Cystinuria
RS2145789008 KCNQ2 Health Risk Likely pathogenic Early-infantile DEE, Early-infantile DEE
RS2145789182 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2145789218 KCNQ2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 7
RS2145789339 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2145789722 KCNQ2 Health Risk Likely pathogenic Developmental and epileptic encephalopathy, 7
RS2145789820 KCNQ2 Health Risk Pathogenic Early-infantile DEE, Early-infantile DEE
RS2145790333 RYR1 Health Risk Likely pathogenic RYR1-related disorder, RYR1-related disorder
RS2145792764 CHEK2 Health Risk Pathogenic Familial cancer of breast, Hereditary cancer-predisposing syndrome
RS2145792867 CHEK2 Health Risk Pathogenic Hereditary cancer-predisposing syndrome, Hereditary cancer-predisposing syndrome
RS2145792978 CHEK2 Health Risk Pathogenic/Likely pathogenic Familial cancer of breast, Familial cancer of breast
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