Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs397518474
rs397518474
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C3809753
Disease:
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 		A 0.800 CausalMutation CLINVAR
dbSNP: rs1057518934
rs1057518934
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0221166
Disease:
Paraparesis 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1057518934
rs1057518934
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C3279222
Disease:
Aplasia/Hypoplasia of the cerebellum 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1057518934
rs1057518934
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C1854301
Disease:
Motor delay 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1057518934
rs1057518934
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0241816
Disease:
Global brain atrophy 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1057518934
rs1057518934
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0036857
Disease:
Severe intellectual disability 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1057518934
rs1057518934
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C2267233
Disease:
Neonatal Hypotonia 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1057518934
rs1057518934
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0344482
Disease:
Hypoplasia of corpus callosum 		A 0.700 CausalMutation CLINVAR
dbSNP: rs1057518934
rs1057518934
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0338502
Disease:
Hypoplasia of the optic nerve 		A 0.700 CausalMutation CLINVAR
dbSNP: rs12913832
rs12913832
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C1856895
Disease:
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1 		G 0.700 GeneticVariation CLINVAR
dbSNP: rs1555415658
rs1555415658
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C3809753
Disease:
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 		T 0.700 CausalMutation CLINVAR
dbSNP: rs1667394
rs1667394
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C1856895
Disease:
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1 		T 0.700 GeneticVariation CLINVAR
dbSNP: rs916977
rs916977
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C1856895
Disease:
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1 		C 0.700 GeneticVariation CLINVAR
dbSNP: rs12913832
rs12913832
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0018498
Disease:
Hair Color 		A 0.800 GeneticVariation GWASDB A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. 18483556 2008
dbSNP: rs12913832
rs12913832
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0018498
Disease:
Hair Color 		A 0.800 GeneticVariation GWASCAT A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. 18483556 2008
dbSNP: rs11636232
rs11636232
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0018498
Disease:
Hair Color 		0.700 GeneticVariation GWASDB A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. 18483556 2008
dbSNP: rs8028689
rs8028689
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0018498
Disease:
Hair Color 		0.700 GeneticVariation GWASDB A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. 18483556 2008
dbSNP: rs8039195
rs8039195
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0018498
Disease:
Hair Color 		0.700 GeneticVariation GWASDB A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. 18483556 2008
dbSNP: rs916977
rs916977
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0018498
Disease:
Hair Color 		0.700 GeneticVariation GWASDB A genome-wide association study identifies novel alleles associated with hair color and skin pigmentation. 18483556 2008
dbSNP: rs397518474
rs397518474
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C3809753
Disease:
MENTAL RETARDATION, AUTOSOMAL RECESSIVE 38 		0.800 GeneticVariation UNIPROT A homozygous missense mutation in HERC2 associated with global developmental delay and autism spectrum disorder. 23065719 2012
dbSNP: rs1057519727
rs1057519727
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C1458155
Disease:
Mammary Neoplasms 		G 0.700 CausalMutation CLINVAR Activating HER2 mutations in HER2 gene amplification negative breast cancer. 23220880 2013
dbSNP: rs1555444543
rs1555444543
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C1458155
Disease:
Mammary Neoplasms 		T 0.700 CausalMutation CLINVAR Activating HER2 mutations in HER2 gene amplification negative breast cancer. 23220880 2013
dbSNP: rs752908306
rs752908306
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C1458155
Disease:
Mammary Neoplasms 		C 0.700 CausalMutation CLINVAR Activating HER2 mutations in HER2 gene amplification negative breast cancer. 23220880 2013
dbSNP: rs12913832
rs12913832
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0015396
Disease:
Eye Color 		A 0.800 GeneticVariation GWASCAT Additionally, we identified a significant interaction between the SNPs rs7173419 and rs12913832 in the OCA2 gene region on brown eye color (P-value for interaction = 3.8 × 10(-3)). 23548203 2013
dbSNP: rs12913832
rs12913832
Entrez Id: 8924
Gene Symbol: HERC2
HERC2
CUI: C0015396
Disease:
Eye Color 		A 0.800 GeneticVariation GWASDB Additionally, we identified a significant interaction between the SNPs rs7173419 and rs12913832 in the OCA2 gene region on brown eye color (P-value for interaction = 3.8 × 10(-3)). 23548203 2013