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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs9786043

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chrY:13360983 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
T>C / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.36069 (28692/79548, ALFA)
C=0.4922 (787/1599, 1000G_30x)
C=0.1655 (233/1408, KOREAN) (+ 9 more)
C=0.4777 (589/1233, 1000G)
C=0.487 (436/896, chrY)
T=0.000 (0/178, SGDP_PRJ)
T=0.373 (62/166, HapMap)
T=0.19 (10/53, Qatari)
C=0.10 (5/48, Vietnamese)
T=0.30 (6/20, GENOME_DK)
T=0.3 (2/6, Ancient Sardinia)
T=0.0 (0/4, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
UTY : Intron Variant
Publications
0 citations
Genomic View
See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 79548 T=0.63931 C=0.36069
European Sub 71674 T=0.64652 C=0.35348
African Sub 1696 T=0.2075 C=0.7925
African Others Sub 66 T=0.00 C=1.00
African American Sub 1630 T=0.2160 C=0.7840
Asian Sub 1014 T=0.8225 C=0.1775
East Asian Sub 844 T=0.808 C=0.192
Other Asian Sub 170 T=0.894 C=0.106
Latin American 1 Sub 304 T=0.408 C=0.592
Latin American 2 Sub 1590 T=0.7050 C=0.2950
South Asian Sub 144 T=0.625 C=0.375
Other Sub 3126 T=0.6385 C=0.3615


Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
Allele Frequency Aggregator Total Global 79548 T=0.63931 C=0.36069
Allele Frequency Aggregator European Sub 71674 T=0.64652 C=0.35348
Allele Frequency Aggregator Other Sub 3126 T=0.6385 C=0.3615
Allele Frequency Aggregator African Sub 1696 T=0.2075 C=0.7925
Allele Frequency Aggregator Latin American 2 Sub 1590 T=0.7050 C=0.2950
Allele Frequency Aggregator Asian Sub 1014 T=0.8225 C=0.1775
Allele Frequency Aggregator Latin American 1 Sub 304 T=0.408 C=0.592
Allele Frequency Aggregator South Asian Sub 144 T=0.625 C=0.375
1000Genomes_30x Global Study-wide 1599 T=0.5078 C=0.4922
1000Genomes_30x African Sub 458 T=0.033 C=0.967
1000Genomes_30x South Asian Sub 319 T=0.555 C=0.445
1000Genomes_30x Europe Sub 305 T=0.695 C=0.305
1000Genomes_30x East Asian Sub 292 T=0.880 C=0.120
1000Genomes_30x American Sub 225 T=0.671 C=0.329
KOREAN population from KRGDB KOREAN Study-wide 1408 T=0.8345 C=0.1655, G=0.0000
1000Genomes Global Study-wide 1233 T=0.5223 C=0.4777
1000Genomes African Sub 319 T=0.038 C=0.962
1000Genomes South Asian Sub 260 T=0.538 C=0.462
1000Genomes East Asian Sub 244 T=0.861 C=0.139
1000Genomes Europe Sub 240 T=0.696 C=0.304
1000Genomes American Sub 170 T=0.676 C=0.324
chrY_custom_capture Global Study-wide 896 T=0.513 C=0.487
chrY_custom_capture AFP Sub 0 T=0 C=0
chrY_custom_capture AHG Sub 0 T=0 C=0
chrY_custom_capture ASC Sub 0 T=0 C=0
chrY_custom_capture ASE Sub 0 T=0 C=0
chrY_custom_capture AUS Sub 0 T=0 C=0
chrY_custom_capture BRI Sub 0 T=0 C=0
chrY_custom_capture ENV Sub 0 T=0 C=0
chrY_custom_capture ESC Sub 0 T=0 C=0
chrY_custom_capture ESE Sub 0 T=0 C=0
chrY_custom_capture ESW Sub 0 T=0 C=0
chrY_custom_capture MEX Sub 0 T=0 C=0
chrY_custom_capture MNE Sub 0 T=0 C=0
chrY_custom_capture SCA Sub 0 T=0 C=0
SGDP_PRJ Global Study-wide 178 T=0.000 C=1.000
HapMap Global Study-wide 166 T=0.373 C=0.627
HapMap African Sub 60 T=0.00 C=1.00
HapMap American Sub 60 T=0.70 C=0.30
HapMap Asian Sub 46 T=0.43 C=0.57
Qatari Global Study-wide 53 T=0.19 C=0.81
A Vietnamese Genetic Variation Database Global Study-wide 48 T=0.90 C=0.10
The Danish reference pan genome Danish Study-wide 20 T=0.30 C=0.70
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 6 T=0.3 C=0.7
Siberian Global Study-wide 4 T=0.0 C=1.0
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr Y NC_000024.10:g.13360983T>C
GRCh38.p14 chr Y NC_000024.10:g.13360983T>G
GRCh37.p13 chr Y NC_000024.9:g.15472863T>C
GRCh37.p13 chr Y NC_000024.9:g.15472863T>G
Gene: UTY, ubiquitously transcribed tetratricopeptide repeat containing, Y-linked (minus strand)
Molecule type Change Amino acid[Codon] SO Term
UTY transcript variant 4 NM_001258249.2:c.867-455A…

NM_001258249.2:c.867-455A>G

N/A Intron Variant
UTY transcript variant 5 NM_001258250.1:c.867-503A…

NM_001258250.1:c.867-503A>G

N/A Intron Variant
UTY transcript variant 6 NM_001258251.1:c.867-455A…

NM_001258251.1:c.867-455A>G

N/A Intron Variant
UTY transcript variant 7 NM_001258252.1:c.867-455A…

NM_001258252.1:c.867-455A>G

N/A Intron Variant
UTY transcript variant 8 NM_001258253.1:c.867-455A…

NM_001258253.1:c.867-455A>G

N/A Intron Variant
UTY transcript variant 9 NM_001258254.1:c.867-455A…

NM_001258254.1:c.867-455A>G

N/A Intron Variant
UTY transcript variant 10 NM_001258255.1:c.867-455A…

NM_001258255.1:c.867-455A>G

N/A Intron Variant
UTY transcript variant 11 NM_001258256.1:c.867-455A…

NM_001258256.1:c.867-455A>G

N/A Intron Variant
UTY transcript variant 12 NM_001258257.1:c.867-455A…

NM_001258257.1:c.867-455A>G

N/A Intron Variant
UTY transcript variant 13 NM_001258258.1:c.867-455A…

NM_001258258.1:c.867-455A>G

N/A Intron Variant
UTY transcript variant 14 NM_001258259.1:c.867-503A…

NM_001258259.1:c.867-503A>G

N/A Intron Variant
UTY transcript variant 15 NM_001258260.1:c.867-455A…

NM_001258260.1:c.867-455A>G

N/A Intron Variant
UTY transcript variant 16 NM_001258261.1:c.867-997A…

NM_001258261.1:c.867-997A>G

N/A Intron Variant
UTY transcript variant 17 NM_001258262.1:c.867-455A…

NM_001258262.1:c.867-455A>G

N/A Intron Variant
UTY transcript variant 18 NM_001258263.1:c.867-455A…

NM_001258263.1:c.867-455A>G

N/A Intron Variant
UTY transcript variant 19 NM_001258264.1:c.867-503A…

NM_001258264.1:c.867-503A>G

N/A Intron Variant
UTY transcript variant 20 NM_001258265.1:c.618-455A…

NM_001258265.1:c.618-455A>G

N/A Intron Variant
UTY transcript variant 21 NM_001258266.1:c.867-455A…

NM_001258266.1:c.867-455A>G

N/A Intron Variant
UTY transcript variant 22 NM_001258267.1:c.867-455A…

NM_001258267.1:c.867-455A>G

N/A Intron Variant
UTY transcript variant 23 NM_001258268.1:c.867-455A…

NM_001258268.1:c.867-455A>G

N/A Intron Variant
UTY transcript variant 24 NM_001258269.1:c.867-455A…

NM_001258269.1:c.867-455A>G

N/A Intron Variant
UTY transcript variant 25 NM_001258270.1:c.867-455A…

NM_001258270.1:c.867-455A>G

N/A Intron Variant
UTY transcript variant 78 NM_001400170.1:c.867-455A…

NM_001400170.1:c.867-455A>G

N/A Intron Variant
UTY transcript variant 79 NM_001400171.1:c.867-455A…

NM_001400171.1:c.867-455A>G

N/A Intron Variant
UTY transcript variant 80 NM_001400173.1:c.867-455A…

NM_001400173.1:c.867-455A>G

N/A Intron Variant
UTY transcript variant 81 NM_001400175.1:c.867-455A…

NM_001400175.1:c.867-455A>G

N/A Intron Variant
UTY transcript variant 82 NM_001400177.1:c.867-455A…

NM_001400177.1:c.867-455A>G

N/A Intron Variant
UTY transcript variant 83 NM_001400178.1:c.867-455A…

NM_001400178.1:c.867-455A>G

N/A Intron Variant
UTY transcript variant 84 NM_001400181.1:c.867-455A…

NM_001400181.1:c.867-455A>G

N/A Intron Variant
UTY transcript variant 85 NM_001400183.1:c.867-455A…

NM_001400183.1:c.867-455A>G

N/A Intron Variant
UTY transcript variant 86 NM_001400185.1:c.867-455A…

NM_001400185.1:c.867-455A>G

N/A Intron Variant
UTY transcript variant 87 NM_001400187.1:c.867-455A…

NM_001400187.1:c.867-455A>G

N/A Intron Variant
UTY transcript variant 88 NM_001400189.1:c.867-455A…

NM_001400189.1:c.867-455A>G

N/A Intron Variant
UTY transcript variant 89 NM_001400192.1:c.867-455A…

NM_001400192.1:c.867-455A>G

N/A Intron Variant
UTY transcript variant 90 NM_001400195.1:c.867-455A…

NM_001400195.1:c.867-455A>G

N/A Intron Variant
UTY transcript variant 91 NM_001400199.1:c.867-455A…

NM_001400199.1:c.867-455A>G

N/A Intron Variant
UTY transcript variant 3 NM_007125.4:c.867-455A>G N/A Intron Variant
UTY transcript variant 2 NM_182659.1:c.867-455A>G N/A Intron Variant
UTY transcript variant 1 NM_182660.1:c.867-455A>G N/A Intron Variant
UTY transcript variant 26 NR_047596.1:n. N/A Intron Variant
UTY transcript variant 27 NR_047597.1:n. N/A Intron Variant
UTY transcript variant 28 NR_047598.1:n. N/A Intron Variant
UTY transcript variant 29 NR_047599.1:n. N/A Intron Variant
UTY transcript variant 30 NR_047600.1:n. N/A Intron Variant
UTY transcript variant 31 NR_047601.1:n. N/A Intron Variant
UTY transcript variant 32 NR_047602.1:n. N/A Intron Variant
UTY transcript variant 33 NR_047603.1:n. N/A Intron Variant
UTY transcript variant 34 NR_047604.1:n. N/A Intron Variant
UTY transcript variant 35 NR_047605.1:n. N/A Intron Variant
UTY transcript variant 36 NR_047606.1:n. N/A Intron Variant
UTY transcript variant 37 NR_047607.1:n. N/A Intron Variant
UTY transcript variant 38 NR_047608.1:n. N/A Intron Variant
UTY transcript variant 39 NR_047609.1:n. N/A Intron Variant
UTY transcript variant 40 NR_047610.1:n. N/A Intron Variant
UTY transcript variant 41 NR_047611.1:n. N/A Intron Variant
UTY transcript variant 42 NR_047612.1:n. N/A Intron Variant
UTY transcript variant 43 NR_047613.1:n. N/A Intron Variant
UTY transcript variant 44 NR_047614.1:n. N/A Intron Variant
UTY transcript variant 45 NR_047615.1:n. N/A Intron Variant
UTY transcript variant 46 NR_047616.1:n. N/A Intron Variant
UTY transcript variant 47 NR_047617.1:n. N/A Intron Variant
UTY transcript variant 48 NR_047618.1:n. N/A Intron Variant
UTY transcript variant 49 NR_047619.1:n. N/A Intron Variant
UTY transcript variant 50 NR_047620.1:n. N/A Intron Variant
UTY transcript variant 51 NR_047621.1:n. N/A Intron Variant
UTY transcript variant 52 NR_047622.1:n. N/A Intron Variant
UTY transcript variant 53 NR_047623.1:n. N/A Intron Variant
UTY transcript variant 54 NR_047624.1:n. N/A Intron Variant
UTY transcript variant 55 NR_047625.1:n. N/A Intron Variant
UTY transcript variant 56 NR_047626.1:n. N/A Intron Variant
UTY transcript variant 57 NR_047627.1:n. N/A Intron Variant
UTY transcript variant 58 NR_047628.1:n. N/A Intron Variant
UTY transcript variant 59 NR_047629.1:n. N/A Intron Variant
UTY transcript variant 60 NR_047630.1:n. N/A Intron Variant
UTY transcript variant 61 NR_047631.1:n. N/A Intron Variant
UTY transcript variant 62 NR_047632.1:n. N/A Intron Variant
UTY transcript variant 63 NR_047633.1:n. N/A Intron Variant
UTY transcript variant 64 NR_047634.1:n. N/A Intron Variant
UTY transcript variant 65 NR_047635.1:n. N/A Intron Variant
UTY transcript variant 66 NR_047636.1:n. N/A Intron Variant
UTY transcript variant 67 NR_047637.1:n. N/A Intron Variant
UTY transcript variant 68 NR_047638.1:n. N/A Intron Variant
UTY transcript variant 69 NR_047639.1:n. N/A Intron Variant
UTY transcript variant 70 NR_047640.1:n. N/A Intron Variant
UTY transcript variant 71 NR_047641.1:n. N/A Intron Variant
UTY transcript variant 72 NR_047642.1:n. N/A Intron Variant
UTY transcript variant 73 NR_047643.1:n. N/A Intron Variant
UTY transcript variant 74 NR_047644.1:n. N/A Intron Variant
UTY transcript variant 75 NR_047645.1:n. N/A Intron Variant
UTY transcript variant 76 NR_047646.1:n. N/A Intron Variant
UTY transcript variant 77 NR_047647.1:n. N/A Intron Variant
UTY transcript variant 92 NR_174404.1:n. N/A Intron Variant
UTY transcript variant 93 NR_174405.1:n. N/A Intron Variant
UTY transcript variant X1 XM_011531441.4:c.867-455A…

XM_011531441.4:c.867-455A>G

N/A Intron Variant
UTY transcript variant X2 XM_011531442.4:c.867-455A…

XM_011531442.4:c.867-455A>G

N/A Intron Variant
UTY transcript variant X3 XM_011531443.4:c.867-455A…

XM_011531443.4:c.867-455A>G

N/A Intron Variant
UTY transcript variant X5 XM_011531445.4:c.867-455A…

XM_011531445.4:c.867-455A>G

N/A Intron Variant
UTY transcript variant X6 XM_011531446.4:c.867-455A…

XM_011531446.4:c.867-455A>G

N/A Intron Variant
UTY transcript variant X7 XM_011531447.4:c.867-455A…

XM_011531447.4:c.867-455A>G

N/A Intron Variant
UTY transcript variant X8 XM_011531448.4:c.867-455A…

XM_011531448.4:c.867-455A>G

N/A Intron Variant
UTY transcript variant X9 XM_011531451.4:c.867-455A…

XM_011531451.4:c.867-455A>G

N/A Intron Variant
UTY transcript variant X10 XM_011531453.4:c.867-455A…

XM_011531453.4:c.867-455A>G

N/A Intron Variant
UTY transcript variant X11 XM_011531454.4:c.867-455A…

XM_011531454.4:c.867-455A>G

N/A Intron Variant
UTY transcript variant X12 XM_011531455.4:c.867-455A…

XM_011531455.4:c.867-455A>G

N/A Intron Variant
UTY transcript variant X21 XM_011531459.4:c.867-455A…

XM_011531459.4:c.867-455A>G

N/A Intron Variant
UTY transcript variant X26 XM_011531460.4:c.867-455A…

XM_011531460.4:c.867-455A>G

N/A Intron Variant
UTY transcript variant X24 XM_017030070.3:c.867-455A…

XM_017030070.3:c.867-455A>G

N/A Intron Variant
UTY transcript variant X29 XM_017030071.3:c.867-455A…

XM_017030071.3:c.867-455A>G

N/A Intron Variant
UTY transcript variant X30 XM_017030073.3:c.867-455A…

XM_017030073.3:c.867-455A>G

N/A Intron Variant
UTY transcript variant X4 XM_047442746.1:c.867-455A…

XM_047442746.1:c.867-455A>G

N/A Intron Variant
UTY transcript variant X13 XM_047442747.1:c.867-455A…

XM_047442747.1:c.867-455A>G

N/A Intron Variant
UTY transcript variant X14 XM_047442748.1:c.867-455A…

XM_047442748.1:c.867-455A>G

N/A Intron Variant
UTY transcript variant X15 XM_047442749.1:c.867-455A…

XM_047442749.1:c.867-455A>G

N/A Intron Variant
UTY transcript variant X16 XM_047442750.1:c.867-455A…

XM_047442750.1:c.867-455A>G

N/A Intron Variant
UTY transcript variant X17 XM_047442751.1:c.867-455A…

XM_047442751.1:c.867-455A>G

N/A Intron Variant
UTY transcript variant X18 XM_047442752.1:c.867-455A…

XM_047442752.1:c.867-455A>G

N/A Intron Variant
UTY transcript variant X19 XM_047442753.1:c.867-455A…

XM_047442753.1:c.867-455A>G

N/A Intron Variant
UTY transcript variant X20 XM_047442754.1:c.867-455A…

XM_047442754.1:c.867-455A>G

N/A Intron Variant
UTY transcript variant X22 XM_047442755.1:c.867-455A…

XM_047442755.1:c.867-455A>G

N/A Intron Variant
UTY transcript variant X27 XM_047442756.1:c.867-455A…

XM_047442756.1:c.867-455A>G

N/A Intron Variant
UTY transcript variant X28 XM_047442757.1:c.867-455A…

XM_047442757.1:c.867-455A>G

N/A Intron Variant
UTY transcript variant X23 XR_007068451.1:n. N/A Intron Variant
UTY transcript variant X25 XR_007068452.1:n. N/A Intron Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement T= C G
GRCh38.p14 chr Y NC_000024.10:g.13360983= NC_000024.10:g.13360983T>C NC_000024.10:g.13360983T>G
GRCh37.p13 chr Y NC_000024.9:g.15472863= NC_000024.9:g.15472863T>C NC_000024.9:g.15472863T>G
UTY transcript variant 4 NM_001258249.1:c.867-455= NM_001258249.1:c.867-455A>G NM_001258249.1:c.867-455A>C
UTY transcript variant 4 NM_001258249.2:c.867-455= NM_001258249.2:c.867-455A>G NM_001258249.2:c.867-455A>C
UTY transcript variant 5 NM_001258250.1:c.867-503= NM_001258250.1:c.867-503A>G NM_001258250.1:c.867-503A>C
UTY transcript variant 6 NM_001258251.1:c.867-455= NM_001258251.1:c.867-455A>G NM_001258251.1:c.867-455A>C
UTY transcript variant 7 NM_001258252.1:c.867-455= NM_001258252.1:c.867-455A>G NM_001258252.1:c.867-455A>C
UTY transcript variant 8 NM_001258253.1:c.867-455= NM_001258253.1:c.867-455A>G NM_001258253.1:c.867-455A>C
UTY transcript variant 9 NM_001258254.1:c.867-455= NM_001258254.1:c.867-455A>G NM_001258254.1:c.867-455A>C
UTY transcript variant 10 NM_001258255.1:c.867-455= NM_001258255.1:c.867-455A>G NM_001258255.1:c.867-455A>C
UTY transcript variant 11 NM_001258256.1:c.867-455= NM_001258256.1:c.867-455A>G NM_001258256.1:c.867-455A>C
UTY transcript variant 12 NM_001258257.1:c.867-455= NM_001258257.1:c.867-455A>G NM_001258257.1:c.867-455A>C
UTY transcript variant 13 NM_001258258.1:c.867-455= NM_001258258.1:c.867-455A>G NM_001258258.1:c.867-455A>C
UTY transcript variant 14 NM_001258259.1:c.867-503= NM_001258259.1:c.867-503A>G NM_001258259.1:c.867-503A>C
UTY transcript variant 15 NM_001258260.1:c.867-455= NM_001258260.1:c.867-455A>G NM_001258260.1:c.867-455A>C
UTY transcript variant 16 NM_001258261.1:c.867-997= NM_001258261.1:c.867-997A>G NM_001258261.1:c.867-997A>C
UTY transcript variant 17 NM_001258262.1:c.867-455= NM_001258262.1:c.867-455A>G NM_001258262.1:c.867-455A>C
UTY transcript variant 18 NM_001258263.1:c.867-455= NM_001258263.1:c.867-455A>G NM_001258263.1:c.867-455A>C
UTY transcript variant 19 NM_001258264.1:c.867-503= NM_001258264.1:c.867-503A>G NM_001258264.1:c.867-503A>C
UTY transcript variant 20 NM_001258265.1:c.618-455= NM_001258265.1:c.618-455A>G NM_001258265.1:c.618-455A>C
UTY transcript variant 21 NM_001258266.1:c.867-455= NM_001258266.1:c.867-455A>G NM_001258266.1:c.867-455A>C
UTY transcript variant 22 NM_001258267.1:c.867-455= NM_001258267.1:c.867-455A>G NM_001258267.1:c.867-455A>C
UTY transcript variant 23 NM_001258268.1:c.867-455= NM_001258268.1:c.867-455A>G NM_001258268.1:c.867-455A>C
UTY transcript variant 24 NM_001258269.1:c.867-455= NM_001258269.1:c.867-455A>G NM_001258269.1:c.867-455A>C
UTY transcript variant 25 NM_001258270.1:c.867-455= NM_001258270.1:c.867-455A>G NM_001258270.1:c.867-455A>C
UTY transcript variant 78 NM_001400170.1:c.867-455= NM_001400170.1:c.867-455A>G NM_001400170.1:c.867-455A>C
UTY transcript variant 79 NM_001400171.1:c.867-455= NM_001400171.1:c.867-455A>G NM_001400171.1:c.867-455A>C
UTY transcript variant 80 NM_001400173.1:c.867-455= NM_001400173.1:c.867-455A>G NM_001400173.1:c.867-455A>C
UTY transcript variant 81 NM_001400175.1:c.867-455= NM_001400175.1:c.867-455A>G NM_001400175.1:c.867-455A>C
UTY transcript variant 82 NM_001400177.1:c.867-455= NM_001400177.1:c.867-455A>G NM_001400177.1:c.867-455A>C
UTY transcript variant 83 NM_001400178.1:c.867-455= NM_001400178.1:c.867-455A>G NM_001400178.1:c.867-455A>C
UTY transcript variant 84 NM_001400181.1:c.867-455= NM_001400181.1:c.867-455A>G NM_001400181.1:c.867-455A>C
UTY transcript variant 85 NM_001400183.1:c.867-455= NM_001400183.1:c.867-455A>G NM_001400183.1:c.867-455A>C
UTY transcript variant 86 NM_001400185.1:c.867-455= NM_001400185.1:c.867-455A>G NM_001400185.1:c.867-455A>C
UTY transcript variant 87 NM_001400187.1:c.867-455= NM_001400187.1:c.867-455A>G NM_001400187.1:c.867-455A>C
UTY transcript variant 88 NM_001400189.1:c.867-455= NM_001400189.1:c.867-455A>G NM_001400189.1:c.867-455A>C
UTY transcript variant 89 NM_001400192.1:c.867-455= NM_001400192.1:c.867-455A>G NM_001400192.1:c.867-455A>C
UTY transcript variant 90 NM_001400195.1:c.867-455= NM_001400195.1:c.867-455A>G NM_001400195.1:c.867-455A>C
UTY transcript variant 91 NM_001400199.1:c.867-455= NM_001400199.1:c.867-455A>G NM_001400199.1:c.867-455A>C
UTY transcript variant 3 NM_007125.4:c.867-455= NM_007125.4:c.867-455A>G NM_007125.4:c.867-455A>C
UTY transcript variant 2 NM_182659.1:c.867-455= NM_182659.1:c.867-455A>G NM_182659.1:c.867-455A>C
UTY transcript variant 1 NM_182660.1:c.867-455= NM_182660.1:c.867-455A>G NM_182660.1:c.867-455A>C
UTY transcript variant X1 XM_005262518.1:c.867-455= XM_005262518.1:c.867-455A>G XM_005262518.1:c.867-455A>C
UTY transcript variant X2 XM_005262519.1:c.231-455= XM_005262519.1:c.231-455A>G XM_005262519.1:c.231-455A>C
UTY transcript variant X3 XM_005262520.1:c.867-455= XM_005262520.1:c.867-455A>G XM_005262520.1:c.867-455A>C
UTY transcript variant X4 XM_005262521.1:c.867-455= XM_005262521.1:c.867-455A>G XM_005262521.1:c.867-455A>C
UTY transcript variant X5 XM_005262522.1:c.777-455= XM_005262522.1:c.777-455A>G XM_005262522.1:c.777-455A>C
UTY transcript variant X6 XM_005262523.1:c.867-455= XM_005262523.1:c.867-455A>G XM_005262523.1:c.867-455A>C
UTY transcript variant X7 XM_005262524.1:c.231-455= XM_005262524.1:c.231-455A>G XM_005262524.1:c.231-455A>C
UTY transcript variant X8 XM_005262525.1:c.867-455= XM_005262525.1:c.867-455A>G XM_005262525.1:c.867-455A>C
UTY transcript variant X9 XM_005262526.1:c.867-455= XM_005262526.1:c.867-455A>G XM_005262526.1:c.867-455A>C
UTY transcript variant X10 XM_005262527.1:c.867-455= XM_005262527.1:c.867-455A>G XM_005262527.1:c.867-455A>C
UTY transcript variant X11 XM_005262528.1:c.123-455= XM_005262528.1:c.123-455A>G XM_005262528.1:c.123-455A>C
UTY transcript variant X12 XM_005262529.1:c.867-455= XM_005262529.1:c.867-455A>G XM_005262529.1:c.867-455A>C
UTY transcript variant X13 XM_005262530.1:c.123-455= XM_005262530.1:c.123-455A>G XM_005262530.1:c.123-455A>C
UTY transcript variant X14 XM_005262531.1:c.867-455= XM_005262531.1:c.867-455A>G XM_005262531.1:c.867-455A>C
UTY transcript variant X15 XM_005262532.1:c.867-455= XM_005262532.1:c.867-455A>G XM_005262532.1:c.867-455A>C
UTY transcript variant X16 XM_005262533.1:c.867-503= XM_005262533.1:c.867-503A>G XM_005262533.1:c.867-503A>C
UTY transcript variant X17 XM_005262534.1:c.867-997= XM_005262534.1:c.867-997A>G XM_005262534.1:c.867-997A>C
UTY transcript variant X18 XM_005262535.1:c.867-455= XM_005262535.1:c.867-455A>G XM_005262535.1:c.867-455A>C
UTY transcript variant X19 XM_005262536.1:c.777-455= XM_005262536.1:c.777-455A>G XM_005262536.1:c.777-455A>C
UTY transcript variant X20 XM_005262537.1:c.867-997= XM_005262537.1:c.867-997A>G XM_005262537.1:c.867-997A>C
UTY transcript variant X21 XM_005262538.1:c.123-455= XM_005262538.1:c.123-455A>G XM_005262538.1:c.123-455A>C
UTY transcript variant X22 XM_005262539.1:c.123-455= XM_005262539.1:c.123-455A>G XM_005262539.1:c.123-455A>C
UTY transcript variant X23 XM_005262540.1:c.867-455= XM_005262540.1:c.867-455A>G XM_005262540.1:c.867-455A>C
UTY transcript variant X24 XM_005262541.1:c.-84-455= XM_005262541.1:c.-84-455A>G XM_005262541.1:c.-84-455A>C
UTY transcript variant X25 XM_005262542.1:c.-127-455= XM_005262542.1:c.-127-455A>G XM_005262542.1:c.-127-455A>C
UTY transcript variant X26 XM_005262543.1:c.867-997= XM_005262543.1:c.867-997A>G XM_005262543.1:c.867-997A>C
UTY transcript variant X27 XM_005262544.1:c.867-455= XM_005262544.1:c.867-455A>G XM_005262544.1:c.867-455A>C
UTY transcript variant X28 XM_005262545.1:c.867-997= XM_005262545.1:c.867-997A>G XM_005262545.1:c.867-997A>C
UTY transcript variant X29 XM_005262546.1:c.867-503= XM_005262546.1:c.867-503A>G XM_005262546.1:c.867-503A>C
UTY transcript variant X30 XM_005262547.1:c.-254-455= XM_005262547.1:c.-254-455A>G XM_005262547.1:c.-254-455A>C
UTY transcript variant X31 XM_005262548.1:c.867-997= XM_005262548.1:c.867-997A>G XM_005262548.1:c.867-997A>C
UTY transcript variant X32 XM_005262549.1:c.867-997= XM_005262549.1:c.867-997A>G XM_005262549.1:c.867-997A>C
UTY transcript variant X33 XM_005262550.1:c.867-455= XM_005262550.1:c.867-455A>G XM_005262550.1:c.867-455A>C
UTY transcript variant X34 XM_005262551.1:c.867-503= XM_005262551.1:c.867-503A>G XM_005262551.1:c.867-503A>C
UTY transcript variant X35 XM_005262552.1:c.777-455= XM_005262552.1:c.777-455A>G XM_005262552.1:c.777-455A>C
UTY transcript variant X36 XM_005262553.1:c.867-997= XM_005262553.1:c.867-997A>G XM_005262553.1:c.867-997A>C
UTY transcript variant X37 XM_005262554.1:c.867-455= XM_005262554.1:c.867-455A>G XM_005262554.1:c.867-455A>C
UTY transcript variant X38 XM_005262555.1:c.-692-455= XM_005262555.1:c.-692-455A>G XM_005262555.1:c.-692-455A>C
UTY transcript variant X39 XM_005262556.1:c.217-24648= XM_005262556.1:c.217-24648A>G XM_005262556.1:c.217-24648A>C
UTY transcript variant X40 XM_005262557.1:c.866+5284= XM_005262557.1:c.866+5284A>G XM_005262557.1:c.866+5284A>C
UTY transcript variant X41 XM_005262558.1:c.-785-455= XM_005262558.1:c.-785-455A>G XM_005262558.1:c.-785-455A>C
UTY transcript variant X42 XM_005262559.1:c.-254-455= XM_005262559.1:c.-254-455A>G XM_005262559.1:c.-254-455A>C
UTY transcript variant X1 XM_011531441.4:c.867-455= XM_011531441.4:c.867-455A>G XM_011531441.4:c.867-455A>C
UTY transcript variant X2 XM_011531442.4:c.867-455= XM_011531442.4:c.867-455A>G XM_011531442.4:c.867-455A>C
UTY transcript variant X3 XM_011531443.4:c.867-455= XM_011531443.4:c.867-455A>G XM_011531443.4:c.867-455A>C
UTY transcript variant X5 XM_011531445.4:c.867-455= XM_011531445.4:c.867-455A>G XM_011531445.4:c.867-455A>C
UTY transcript variant X6 XM_011531446.4:c.867-455= XM_011531446.4:c.867-455A>G XM_011531446.4:c.867-455A>C
UTY transcript variant X7 XM_011531447.4:c.867-455= XM_011531447.4:c.867-455A>G XM_011531447.4:c.867-455A>C
UTY transcript variant X8 XM_011531448.4:c.867-455= XM_011531448.4:c.867-455A>G XM_011531448.4:c.867-455A>C
UTY transcript variant X9 XM_011531451.4:c.867-455= XM_011531451.4:c.867-455A>G XM_011531451.4:c.867-455A>C
UTY transcript variant X10 XM_011531453.4:c.867-455= XM_011531453.4:c.867-455A>G XM_011531453.4:c.867-455A>C
UTY transcript variant X11 XM_011531454.4:c.867-455= XM_011531454.4:c.867-455A>G XM_011531454.4:c.867-455A>C
UTY transcript variant X12 XM_011531455.4:c.867-455= XM_011531455.4:c.867-455A>G XM_011531455.4:c.867-455A>C
UTY transcript variant X21 XM_011531459.4:c.867-455= XM_011531459.4:c.867-455A>G XM_011531459.4:c.867-455A>C
UTY transcript variant X26 XM_011531460.4:c.867-455= XM_011531460.4:c.867-455A>G XM_011531460.4:c.867-455A>C
UTY transcript variant X24 XM_017030070.3:c.867-455= XM_017030070.3:c.867-455A>G XM_017030070.3:c.867-455A>C
UTY transcript variant X29 XM_017030071.3:c.867-455= XM_017030071.3:c.867-455A>G XM_017030071.3:c.867-455A>C
UTY transcript variant X30 XM_017030073.3:c.867-455= XM_017030073.3:c.867-455A>G XM_017030073.3:c.867-455A>C
UTY transcript variant X4 XM_047442746.1:c.867-455= XM_047442746.1:c.867-455A>G XM_047442746.1:c.867-455A>C
UTY transcript variant X13 XM_047442747.1:c.867-455= XM_047442747.1:c.867-455A>G XM_047442747.1:c.867-455A>C
UTY transcript variant X14 XM_047442748.1:c.867-455= XM_047442748.1:c.867-455A>G XM_047442748.1:c.867-455A>C
UTY transcript variant X15 XM_047442749.1:c.867-455= XM_047442749.1:c.867-455A>G XM_047442749.1:c.867-455A>C
UTY transcript variant X16 XM_047442750.1:c.867-455= XM_047442750.1:c.867-455A>G XM_047442750.1:c.867-455A>C
UTY transcript variant X17 XM_047442751.1:c.867-455= XM_047442751.1:c.867-455A>G XM_047442751.1:c.867-455A>C
UTY transcript variant X18 XM_047442752.1:c.867-455= XM_047442752.1:c.867-455A>G XM_047442752.1:c.867-455A>C
UTY transcript variant X19 XM_047442753.1:c.867-455= XM_047442753.1:c.867-455A>G XM_047442753.1:c.867-455A>C
UTY transcript variant X20 XM_047442754.1:c.867-455= XM_047442754.1:c.867-455A>G XM_047442754.1:c.867-455A>C
UTY transcript variant X22 XM_047442755.1:c.867-455= XM_047442755.1:c.867-455A>G XM_047442755.1:c.867-455A>C
UTY transcript variant X27 XM_047442756.1:c.867-455= XM_047442756.1:c.867-455A>G XM_047442756.1:c.867-455A>C
UTY transcript variant X28 XM_047442757.1:c.867-455= XM_047442757.1:c.867-455A>G XM_047442757.1:c.867-455A>C
Help

Submissions tab displays variations originally submitted to dbSNP, now supporting this RefSNP cluster (rs). We display Submitter handle, Submission identifier, Date and Build number, when the submission appeared for the first time. Direct submissions to dbSNP have Submission ID in the form of an ss-prefixed number (ss#). Other supporting variations are listed in the table without ss#.

81 SubSNP, 12 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss13606336 Dec 05, 2003 (119)
2 PERLEGEN ss24723781 Sep 20, 2004 (123)
3 ILLUMINA ss75197414 Dec 06, 2007 (129)
4 KRIBB_YJKIM ss104988886 Feb 06, 2009 (130)
5 ILLUMINA-UK ss115581821 Feb 06, 2009 (130)
6 ILLUMINA ss161011352 Dec 01, 2009 (131)
7 ILLUMINA ss174895453 Jul 04, 2010 (132)
8 BUSHMAN ss204417751 Jul 04, 2010 (132)
9 GMI ss283922217 May 04, 2012 (137)
10 ILLUMINA ss481974611 May 04, 2012 (137)
11 ILLUMINA ss482008367 May 04, 2012 (137)
12 ILLUMINA ss482962126 Sep 08, 2015 (146)
13 ILLUMINA ss485780802 May 04, 2012 (137)
14 ILLUMINA ss537626562 Jul 19, 2016 (147)
15 TISHKOFF ss567114275 Apr 25, 2013 (138)
16 SSMP ss663096942 Apr 25, 2013 (138)
17 HUMGEN ss778078636 Aug 21, 2014 (142)
18 ILLUMINA ss778646922 Aug 21, 2014 (142)
19 ILLUMINA ss783336267 Aug 21, 2014 (142)
20 ILLUMINA ss784287819 Aug 21, 2014 (142)
21 CDBUSTAMANTE ss825683523 Aug 21, 2014 (142)
22 ILLUMINA ss832598094 Apr 01, 2015 (144)
23 ILLUMINA ss834104693 Aug 21, 2014 (142)
24 JOBLING_UOL ss1399956990 Apr 01, 2015 (144)
25 DDI ss1432160250 Apr 01, 2015 (144)
26 1000GENOMES ss1556751997 Apr 01, 2015 (144)
27 EVA_GENOME_DK ss1583555750 Apr 01, 2015 (144)
28 ILLUMINA ss1752814432 Sep 08, 2015 (146)
29 WEILL_CORNELL_DGM ss1939860923 Feb 12, 2016 (147)
30 ILLUMINA ss1945968908 Feb 12, 2016 (147)
31 ILLUMINA ss1958176748 Feb 12, 2016 (147)
32 ILLUMINA ss1958176749 Feb 12, 2016 (147)
33 ILLUMINA ss2094838523 Dec 20, 2016 (150)
34 ILLUMINA ss2095229591 Dec 20, 2016 (150)
35 USC_VALOUEV ss2159353241 Dec 20, 2016 (150)
36 HUMAN_LONGEVITY ss2321412449 Dec 20, 2016 (150)
37 SYSTEMSBIOZJU ss2629804706 Nov 08, 2017 (151)
38 ILLUMINA ss2634994057 Nov 08, 2017 (151)
39 GRF ss2710438713 Nov 08, 2017 (151)
40 SWEGEN ss3020948618 Nov 08, 2017 (151)
41 ILLUMINA ss3023053354 Nov 08, 2017 (151)
42 ILLUMINA ss3023053355 Nov 08, 2017 (151)
43 HUMGEN ss3029947912 Nov 08, 2017 (151)
44 ILLUMINA ss3626005452 Oct 12, 2018 (152)
45 ILLUMINA ss3630504417 Oct 12, 2018 (152)
46 ILLUMINA ss3632876952 Oct 12, 2018 (152)
47 ILLUMINA ss3633570657 Oct 12, 2018 (152)
48 ILLUMINA ss3634300993 Oct 12, 2018 (152)
49 ILLUMINA ss3635264790 Oct 12, 2018 (152)
50 ILLUMINA ss3635977819 Oct 12, 2018 (152)
51 ILLUMINA ss3637014914 Oct 12, 2018 (152)
52 ILLUMINA ss3637731546 Oct 12, 2018 (152)
53 ILLUMINA ss3638886746 Oct 12, 2018 (152)
54 ILLUMINA ss3640972278 Oct 12, 2018 (152)
55 ILLUMINA ss3641265976 Oct 12, 2018 (152)
56 ILLUMINA ss3641564892 Oct 12, 2018 (152)
57 ILLUMINA ss3643809512 Oct 12, 2018 (152)
58 ILLUMINA ss3645021427 Oct 12, 2018 (152)
59 ILLUMINA ss3653611867 Oct 12, 2018 (152)
60 ILLUMINA ss3653611868 Oct 12, 2018 (152)
61 ILLUMINA ss3726713418 Jul 14, 2019 (153)
62 ILLUMINA ss3744336263 Jul 14, 2019 (153)
63 ILLUMINA ss3745564804 Jul 14, 2019 (153)
64 ILLUMINA ss3773056411 Jul 14, 2019 (153)
65 PACBIO ss3788976033 Jul 14, 2019 (153)
66 PACBIO ss3793846442 Jul 14, 2019 (153)
67 PACBIO ss3798730935 Jul 14, 2019 (153)
68 KHV_HUMAN_GENOMES ss3823535482 Jul 14, 2019 (153)
69 EVA ss3836373440 Apr 27, 2020 (154)
70 SGDP_PRJ ss3892708040 Apr 27, 2020 (154)
71 KRGDB ss3943505828 Apr 27, 2020 (154)
72 EVA ss3984772140 Apr 27, 2021 (155)
73 EVA ss3985989350 Apr 27, 2021 (155)
74 EVA ss5237629933 Apr 27, 2021 (155)
75 ESTONIANBIOCENTRE ss5237681567 Oct 17, 2022 (156)
76 EVA ss5316103802 Oct 17, 2022 (156)
77 1000G_HIGH_COVERAGE ss5623821723 Oct 17, 2022 (156)
78 SANFORD_IMAGENETICS ss5666137305 Oct 17, 2022 (156)
79 YY_MCH ss5819514990 Oct 17, 2022 (156)
80 EVA ss5848242455 Oct 17, 2022 (156)
81 EVA ss5979925338 Oct 17, 2022 (156)
82 1000Genomes NC_000024.9 - 15472863 Oct 12, 2018 (152)
83 1000Genomes_30x NC_000024.10 - 13360983 Oct 17, 2022 (156)
84 chrY_custom_capture NC_000024.9 - 15472863 Apr 27, 2020 (154)
85 The Danish reference pan genome NC_000024.9 - 15472863 Apr 27, 2020 (154)
86 HapMap NC_000024.10 - 13360983 Apr 27, 2020 (154)
87 KOREAN population from KRGDB NC_000024.9 - 15472863 Apr 27, 2020 (154)
88 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000024.9 - 15472863 Apr 27, 2021 (155)
89 Qatari NC_000024.9 - 15472863 Apr 27, 2020 (154)
90 SGDP_PRJ NC_000024.9 - 15472863 Apr 27, 2020 (154)
91 Siberian NC_000024.9 - 15472863 Apr 27, 2020 (154)
92 A Vietnamese Genetic Variation Database NC_000024.9 - 15472863 Jul 14, 2019 (153)
93 ALFA NC_000024.10 - 13360983 Apr 27, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs17221915 Oct 07, 2004 (123)
rs56417477 May 26, 2008 (130)
rs386624848 Aug 21, 2014 (142)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss161011352, ss204417751, ss283922217, ss481974611, ss3643809512 NC_000024.8:13982256:T:C NC_000024.10:13360982:T:C (self)
84704985, 4265, 9720687, 50683222, 1215277, 21902845, 44725020, 11869595, 10243168, ss482008367, ss482962126, ss485780802, ss537626562, ss567114275, ss663096942, ss778078636, ss778646922, ss783336267, ss784287819, ss825683523, ss832598094, ss834104693, ss1399956990, ss1432160250, ss1556751997, ss1583555750, ss1752814432, ss1939860923, ss1945968908, ss1958176748, ss1958176749, ss2094838523, ss2095229591, ss2159353241, ss2629804706, ss2634994057, ss2710438713, ss3020948618, ss3023053354, ss3023053355, ss3029947912, ss3626005452, ss3630504417, ss3632876952, ss3633570657, ss3634300993, ss3635264790, ss3635977819, ss3637014914, ss3637731546, ss3638886746, ss3640972278, ss3641265976, ss3641564892, ss3645021427, ss3653611867, ss3653611868, ss3744336263, ss3745564804, ss3773056411, ss3788976033, ss3793846442, ss3798730935, ss3836373440, ss3892708040, ss3943505828, ss3984772140, ss3985989350, ss5237629933, ss5237681567, ss5316103802, ss5666137305, ss5848242455, ss5979925338 NC_000024.9:15472862:T:C NC_000024.10:13360982:T:C (self)
111347658, 4060656, 5501067258, ss2321412449, ss3726713418, ss3823535482, ss5623821723, ss5819514990 NC_000024.10:13360982:T:C NC_000024.10:13360982:T:C (self)
ss13606336, ss24723781, ss75197414, ss104988886, ss115581821, ss174895453 NT_011875.12:1674284:T:C NC_000024.10:13360982:T:C (self)
50683222, ss3943505828 NC_000024.9:15472862:T:G NC_000024.10:13360982:T:G (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs9786043

Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post761+d5e8e07