GET-Evidence: Search

VariantImpactInheritance patternSummaryGenomes
SLC45A2 D157Ninsufficiently evaluated pathogenicunknown

(45 web hits)

SLC45A2 E272Kuncertain benign, f=0.029unknown

Pigmentation allele for black hair in Caucasian population.

(44 web hits)

var-GS18942-1100-36-ASM (hom)
CGI sample GS01173-DNA_H06 from PGP sample 91708424 (hom)
var-GS18537-1100-36-ASM (hom)
CGI sample GS00253-DNA_D01_200_37
var-GS18526-1100-36-ASM (hom)
var-GS18947-1100-36-ASM (hom)
var-GS19669-1100-36-ASM (hom)
SLC45A2 C321Rinsufficiently evaluated not reviewedunknown
SLC45A2 L361Pinsufficiently evaluated pathogenic, f=0.000unknown

(3 web hits)

SLC45A2 L374Funcertain benign, f=0.692unknown

Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.

(160 web hits)

CGI sample GS00253-DNA_E01_200_37 (hom)
CGI sample GS01669-DNA_C07 from PGP sample 74521372 (hom)
CGI sample GS01173-DNA_C02 from PGP sample 10366372 (hom)
CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
CGI sample GS01669-DNA_F02 from PGP sample 40767107
CGI sample GS01175-DNA_H01 from PGP sample 94797469 (hom)
hu34D5B9 exome (hom)
hu3215A7 build 36 substitution variants
PGP13 (hu3A8D13) build 37, from CGI var (software ver (hom)
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981 (hom)
CGI sample GS01173-DNA_G02 from PGP sample 67180598 (hom)
CGI sample GS000006909 (hom)
CGI sample GS01175-DNA_B05 from PGP sample 83494370 (hom)
var-GS07357-1100-36-ASM (hom)
CGI sample GS000005532 (hom)
hu232307 build 36 substitution variants (hom)
var-GS12004-1100-36-ASM (hom)
CGI sample GS01669-DNA_B03 from PGP sample 14427241 (hom)
CGI sample GS00253-DNA_G01_200_37 (hom)
CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom)
var-GS10851-1100-36-ASM (hom)
CGI sample GS00253-DNA_A01_200_37 (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604 (hom)
var-GS19649-1100-36-ASM (hom)
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM (hom)
CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom)
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37 (hom)
CGI sample GS01173-DNA_F06 from PGP sample 64191565 (hom)
CGI sample GS01175-DNA_D05 from PGP sample 1205491 (hom)
CGI sample GS00253-DNA_F01_200_37 (hom)
var-GS20502-1100-36-ASM (hom)
CGI sample GS01175-DNA_D01 from PGP sample 31286272 (hom)
CGI sample GS00253-DNA_D01_200_37
CGI sample GS00253-DNA_C01_200_37 (hom)
hu728FFF build 36 substitution variants (hom)
CGI sample GS00253-DNA_A02_200_37 (hom)
var-GS06994-1100-36-ASM (hom)
CGI sample GS00253-DNA_H01_200_37 (hom)
CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom)
CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom)
CGI sample GS01173-DNA_B02 from PGP sample 94378523 (hom)
CGI sample GS01173-DNA_A07 from PGP sample 96240009 (hom)
CGI sample GS01173-DNA_B07 from PGP sample 61499538 (hom)
var-GS06985-1100-36-ASM (hom)
CGI sample GS01175-DNA_D03 from PGP sample 27486199 (hom)
SLC45A2 F374Linsufficiently evaluated benignunknown

While some variants in the SLC45A2 gene have been associated with albinism, this variant is a benign human pigmentation variant, shown to be significantly associated with dark hair, skin, and eye color in

(7 web hits)

SLC45A2 T403Ainsufficiently evaluated not reviewedunknown
SLC45A2 I415Tinsufficiently evaluated not reviewedunknown
SLC45A2 A486Vinsufficiently evaluated pathogenicunknown

(3 web hits)

SLC45A2 V507Linsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_H05 from PGP sample 10971581
Total results: 10

Gene search

"GENE" or "GENE A123C":

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