Variant: rs121918166 

    present in Gene: OCA2
    present in Chromosome: 15
    Position on Chromosome: 27985101
    Alleles of this Variant: C/T

rs121918166 in OCA2 gene and Dysmorphic features PMID 15712365 2005 P gene mutations associated with oculocutaneous albinism type II (OCA2).

PMID 26818737 2016 Homozygosity mapping in albinism patients using a novel panel of 13 STR markers inside the nonsyndromic OCA genes: introducing 5 novel mutations.

PMID 15889046 2005 Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma.

PMID 21085994 2011 High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients.

PMID 12469324 2003 A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population.

PMID 25093188 2014 Mutational analysis of oculocutaneous albinism: a compact review.

PMID 11310796 2001 The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH.

PMID 10094567 1999 Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.

PMID 21292473 2011 Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations.

PMID 8421497 1993 A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism.

PMID 23504663 2013 DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.

PMID 11464238 2001 The spectrum of Familial Mediterranean Fever (FMF) mutations.

rs121918166 in OCA2 gene and Hair Color PMID 30531825 2018 Genome-wide study of hair colour in UK Biobank explains most of the SNP heritability.

rs121918166 in OCA2 gene and Muscle hypotonia PMID 12469324 2003 A 122.5-kilobase deletion of the P gene underlies the high prevalence of oculocutaneous albinism type 2 in the Navajo population.

PMID 21085994 2011 High resolution mapping of OCA2 intragenic rearrangements and identification of a founder effect associated with a deletion in Polish albino patients.

PMID 10094567 1999 Molecular basis of albinism: mutations and polymorphisms of pigmentation genes associated with albinism.

PMID 11310796 2001 The mouse p (pink-eyed dilution) and human P genes, oculocutaneous albinism type 2 (OCA2), and melanosomal pH.

PMID 21292473 2011 Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations.

PMID 23504663 2013 DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.

PMID 15712365 2005 P gene mutations associated with oculocutaneous albinism type II (OCA2).

PMID 25093188 2014 Mutational analysis of oculocutaneous albinism: a compact review.

PMID 11464238 2001 The spectrum of Familial Mediterranean Fever (FMF) mutations.

PMID 15889046 2005 Allele variations in the OCA2 gene (pink-eyed-dilution locus) are associated with genetic susceptibility to melanoma.

PMID 26818737 2016 Homozygosity mapping in albinism patients using a novel panel of 13 STR markers inside the nonsyndromic OCA genes: introducing 5 novel mutations.

PMID 8421497 1993 A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism.

rs121918166 in OCA2 gene and Oculocutaneous albinism type 2 PMID 10905897 2000 Oculocutaneous albinism type 2 with a P gene missense mutation in a patient with Angelman syndrome.

PMID 10671067 1998 Mutations of the human P gene associated with Type II oculocutaneous albinism (OCA2). Mutations in brief no. 205. Online.

PMID 8302318 1994 Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism.

PMID 10987646 1999 Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population.

PMID 9259203 1997 Novel mutations of the P gene in type II oculocutaneous albinism (OCA2).

PMID 10649493 2000 Identification of P gene mutations in individuals with oculocutaneous albinism in sub-Saharan Africa.

PMID 17960121 2007 Mutation analysis in a family with oculocutaneous albinism manifesting in the same generation of three branches.

PMID 7762554 1995 Frequent intragenic deletion of the P gene in Tanzanian patients with type II oculocutaneous albinism (OCA2).

PMID 12876664 2003 MC1R mutations modify the classic phenotype of oculocutaneous albinism type 2 (OCA2).

PMID 12727022 2003 A novel P gene missense mutation in a Japanese patient with oculocutaneous albinism type II (OCA2).

PMID 18463683 2008 Comprehensive analysis of oculocutaneous albinism among non-Hispanic caucasians shows that OCA1 is the most prevalent OCA type.

PMID 8980282 1997 Complementation of hypopigmentation in p-mutant (pink-eyed dilution) mouse melanocytes by normal human P cDNA, and defective complementation by OCA2 mutant sequences.

PMID 12713581 2003 Six novel P gene mutations and oculocutaneous albinism type 2 frequency in Japanese albino patients.

PMID 26165494 2015 Prenatal genotyping of four common oculocutaneous albinism genes in 51 Chinese families.

PMID 26474496 2016 Evidence of macular pigment in the central macula in albinism.

PMID 23504663 2013 DNA variations in oculocutaneous albinism: an updated mutation list and current outstanding issues in molecular diagnostics.

PMID 28451379 2017 Retrospective analysis in oculocutaneous albinism patients for the 2.7 kb deletion in the OCA2 gene revealed a co-segregation of the controversial variant, p.R305W.

PMID 27231233 2016 A melanosomal two-pore sodium channel regulates pigmentation.

PMID 15712365 2005 P gene mutations associated with oculocutaneous albinism type II (OCA2).

PMID 17385796 2007 Prenatal diagnosis of oculocutaneous albinism type II and novel mutations in two Chinese families.

PMID 25513726 2014 An intracellular anion channel critical for pigmentation.

PMID 7874125 1994 Diverse mutations of the P gene among African-Americans with type II (tyrosinase-positive) oculocutaneous albinism (OCA2).

PMID 27468418 2016 Importance of nonsynonymous OCA2 variants in human eye color prediction.

PMID 20861488 2011 Molecular and clinical characterization of albinism in a large cohort of Italian patients.

PMID 23744323 2013 [A de novo mutation of P gene causes oculocutaneous albinism type 2 with prenatal diagnosis].

rs121918166 in OCA2 gene and SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 1 PMID 8302318 1994 Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism.

PMID 10987646 1999 Novel and recurrent mutations in the tyrosinase gene and the P gene in the German albino population.

PMID 8980282 1997 Complementation of hypopigmentation in p-mutant (pink-eyed dilution) mouse melanocytes by normal human P cDNA, and defective complementation by OCA2 mutant sequences.