{{Rsnum
|rsid=35264875
|Gene=TPCN2
|Chromosome=11
|position=69078931
|Orientation=plus
|ReferenceAllele=A
|MissenseAllele=T
|GMAF=0.1015
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(A;A)
|geno2=(A;T)
|geno3=(T;T)
|Gene_s=TPCN2
}}{{GWAS Summary
|SNP=rs35264875
|PubMedID=18488028
|Condition=Blond vs. brown hair
|Gene=TPCN2
|Risk Allele=T
|pValue=4.00E-030
|OR=2.49
|95CI=1.96-3.15
}}

{{omim
|id=612267
|desc=SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 10; SHEP10
|rsnum=35264875
}}

{{omim
|id=612163
|desc=TWO-PORE SEGMENT CHANNEL 2; TPCN2
|rsnum=35264875
}}

{{PharmGKB
|RSID=rs35264875
|Name_s=
|Gene_s=TPCN2
|Feature=
|Evidence=PubMed ID:18488028; Web Resource:http://www.genome.gov/gwastudies/
|Annotation=GWAS Results: Two newly identified genetic determinants of pigmentation in Europeans (Initial Sample Size: 5,130 individuals; Replication Sample Size: 3,330 individuals; Risk/trait Allele: rs35264875-T). This variant is associated with Blond vs. brown hair.
|Drugs=
|Drug Classes=
|Diseases=
|Curation Level=Non-Curated
|PharmGKB Accession ID=PA162356585
}}

{{ population diversity
| geno1 = (A;A)
| geno2 = (A;T)
| geno3 = (T;T)
| CEU | 66.7 | 31.7 | 1.7
| CHB | 100.0 | 0.0 | 0.0
| JPT | 100.0 | 0.0 | 0.0
| YRI | 100.0 | 0.0 | 0.0
}}
{{omim
|id=612163
|rsnum=35264875
|variant=0001
}}

{{ClinVar
|rsid=35264875
|Reversed=0
|FwdREF=A
|FwdALT=T
|REF=A
|ALT=T
|RSPOS=68846399
|CHROM=11
|GMAF=0.1012
|dbSNPBuildID=126
|SSR=0
|SAO=1
|VP=0x05016800000017051e130100
|GENEINFO=TPCN2:219931
|GENE_NAME=TPCN2
|GENE_ID=219931
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000011.9:g.68846399A>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=612163.0001
|CLNSIG=5
|CLNCUI=C2677088
|CLNDBN=Skin/hair/eye pigmentation, variation in, 10
|Disease=Skin/hair/eye pigmentation
|CLNACC=RCV000000763.1
|Tags=PM;PMC;SLO;VLD;G5A;G5;HD;GNO;KGPhase1;KGPilot123;KGPROD;OTHERKG;LSD;MTP;OM
|CAF=0.8985; 0.1015
|CLNDSDB=MedGen:OMIM
|CLNDSDBID=C2677088:612267
|COMMON=1
}}

{{GET Evidence
|gene=TPCN2
|aa_change=Met484Leu
|aa_change_short=M484L
|impact=benign
|qualified_impact=Insufficiently evaluated benign
|inheritance=unknown
|quality_scores=Array
|dbsnp_id=rs35264875
|overall_frequency_n=1383
|overall_frequency_d=10758
|overall_frequency=0.128555
|n_genomes=6
|n_genomes_annotated=0
|n_haplomes=6
|n_articles=0
|n_articles_annotated=0
|in_omim=Y
|in_gwas=Y
|in_pharmgkb=Y
|pph2_score=0.333
|nblosum100=-3
|autoscore=2
|webscore=N
|n_web_uneval=9
}}

{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}
{{on chip | HumanOmni1Quad}}