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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.

rs4986991

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr8:18222824 (GRCh38.p12) 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=0.004961 (623/125568, TOPMED)
C=0.00074 (65/87624, ALFA Project)
C=0.00738 (581/78698, PAGE_STUDY) (+ 12 more)
C=0.00423 (55/13006, GO-ESP)
C=0.0040 (20/5008, 1000G)
G=0.0002 (1/4480, Estonian)
G=0.0013 (5/3854, ALSPAC)
G=0.0005 (2/3708, TWINSUK)
G=0.002 (2/998, GoNL)
G=0.002 (1/600, NorthernSweden)
G=0.006 (3/534, MGP)
C=0.003 (1/354, PharmGKB)
C=0.005 (1/216, Qatari)
T=0.5 (3/6, SGDP_PRJ)
C=0.5 (3/6, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
NAT1 : Missense Variant
Publications
1 citation
Genomic View
See rs on genome
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.p12 chr 8 NC_000008.11:g.18222824T>C
GRCh38.p12 chr 8 NC_000008.11:g.18222824T>G
GRCh37.p13 chr 8 NC_000008.10:g.18080333T>C
GRCh37.p13 chr 8 NC_000008.10:g.18080333T>G
NAT1 RefSeqGene NG_012245.2:g.57363T>C
NAT1 RefSeqGene NG_012245.2:g.57363T>G
Gene: NAT1, N-acetyltransferase 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NAT1 transcript variant 6 NM_001160174.2:c.777T>C S [AGT] > S [AGC] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153646.1:p.Ser259= S (Ser) > S (Ser) Synonymous Variant
NAT1 transcript variant 6 NM_001160174.2:c.777T>G S [AGT] > R [AGG] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153646.1:p.Ser259Arg S (Ser) > R (Arg) Missense Variant
NAT1 transcript variant 4 NM_001160173.3:c.777T>C S [AGT] > S [AGC] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153645.1:p.Ser259= S (Ser) > S (Ser) Synonymous Variant
NAT1 transcript variant 4 NM_001160173.3:c.777T>G S [AGT] > R [AGG] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153645.1:p.Ser259Arg S (Ser) > R (Arg) Missense Variant
NAT1 transcript variant 5 NM_000662.8:c.777T>C S [AGT] > S [AGC] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_000653.3:p.Ser259= S (Ser) > S (Ser) Synonymous Variant
NAT1 transcript variant 5 NM_000662.8:c.777T>G S [AGT] > R [AGG] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_000653.3:p.Ser259Arg S (Ser) > R (Arg) Missense Variant
NAT1 transcript variant 1 NM_001160170.4:c.777T>C S [AGT] > S [AGC] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153642.1:p.Ser259= S (Ser) > S (Ser) Synonymous Variant
NAT1 transcript variant 1 NM_001160170.4:c.777T>G S [AGT] > R [AGG] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153642.1:p.Ser259Arg S (Ser) > R (Arg) Missense Variant
NAT1 transcript variant 8 NM_001160176.4:c.963T>C S [AGT] > S [AGC] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform b NP_001153648.1:p.Ser321= S (Ser) > S (Ser) Synonymous Variant
NAT1 transcript variant 8 NM_001160176.4:c.963T>G S [AGT] > R [AGG] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform b NP_001153648.1:p.Ser321Arg S (Ser) > R (Arg) Missense Variant
NAT1 transcript variant 10 NM_001291962.2:c.963T>C S [AGT] > S [AGC] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform b NP_001278891.1:p.Ser321= S (Ser) > S (Ser) Synonymous Variant
NAT1 transcript variant 10 NM_001291962.2:c.963T>G S [AGT] > R [AGG] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform b NP_001278891.1:p.Ser321Arg S (Ser) > R (Arg) Missense Variant
NAT1 transcript variant 9 NM_001160179.3:c.777T>C S [AGT] > S [AGC] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153651.1:p.Ser259= S (Ser) > S (Ser) Synonymous Variant
NAT1 transcript variant 9 NM_001160179.3:c.777T>G S [AGT] > R [AGG] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153651.1:p.Ser259Arg S (Ser) > R (Arg) Missense Variant
NAT1 transcript variant 2 NM_001160171.4:c.777T>C S [AGT] > S [AGC] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153643.1:p.Ser259= S (Ser) > S (Ser) Synonymous Variant
NAT1 transcript variant 2 NM_001160171.4:c.777T>G S [AGT] > R [AGG] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153643.1:p.Ser259Arg S (Ser) > R (Arg) Missense Variant
NAT1 transcript variant 7 NM_001160175.4:c.963T>C S [AGT] > S [AGC] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform b NP_001153647.1:p.Ser321= S (Ser) > S (Ser) Synonymous Variant
NAT1 transcript variant 7 NM_001160175.4:c.963T>G S [AGT] > R [AGG] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform b NP_001153647.1:p.Ser321Arg S (Ser) > R (Arg) Missense Variant
NAT1 transcript variant 3 NM_001160172.4:c.777T>C S [AGT] > S [AGC] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153644.1:p.Ser259= S (Ser) > S (Ser) Synonymous Variant
NAT1 transcript variant 3 NM_001160172.4:c.777T>G S [AGT] > R [AGG] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform a NP_001153644.1:p.Ser259Arg S (Ser) > R (Arg) Missense Variant
NAT1 transcript variant X2 XM_011544687.1:c.963T>C S [AGT] > S [AGC] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X1 XP_011542989.1:p.Ser321= S (Ser) > S (Ser) Synonymous Variant
NAT1 transcript variant X2 XM_011544687.1:c.963T>G S [AGT] > R [AGG] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X1 XP_011542989.1:p.Ser321Arg S (Ser) > R (Arg) Missense Variant
NAT1 transcript variant X1 XM_011544688.1:c.963T>C S [AGT] > S [AGC] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X1 XP_011542990.1:p.Ser321= S (Ser) > S (Ser) Synonymous Variant
NAT1 transcript variant X1 XM_011544688.1:c.963T>G S [AGT] > R [AGG] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X1 XP_011542990.1:p.Ser321Arg S (Ser) > R (Arg) Missense Variant
NAT1 transcript variant X3 XM_017013947.1:c.963T>C S [AGT] > S [AGC] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X1 XP_016869436.1:p.Ser321= S (Ser) > S (Ser) Synonymous Variant
NAT1 transcript variant X3 XM_017013947.1:c.963T>G S [AGT] > R [AGG] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X1 XP_016869436.1:p.Ser321Arg S (Ser) > R (Arg) Missense Variant
NAT1 transcript variant X4 XM_006716410.3:c.777T>C S [AGT] > S [AGC] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X2 XP_006716473.1:p.Ser259= S (Ser) > S (Ser) Synonymous Variant
NAT1 transcript variant X4 XM_006716410.3:c.777T>G S [AGT] > R [AGG] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X2 XP_006716473.1:p.Ser259Arg S (Ser) > R (Arg) Missense Variant
NAT1 transcript variant X5 XM_011544689.2:c.777T>C S [AGT] > S [AGC] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X2 XP_011542991.1:p.Ser259= S (Ser) > S (Ser) Synonymous Variant
NAT1 transcript variant X5 XM_011544689.2:c.777T>G S [AGT] > R [AGG] Coding Sequence Variant
arylamine N-acetyltransferase 1 isoform X2 XP_011542991.1:p.Ser259Arg S (Ser) > R (Arg) Missense 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

ALFA Allele Frequency (New)
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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 177558 T=0.999172 C=0.000749, G=0.000079
European Sub 150484 T=0.999342 C=0.000611, G=0.000047
African Sub 5148 T=0.9936 C=0.0052, G=0.0012
African Others Sub 172 T=1.000 C=0.000, G=0.000
African American Sub 4976 T=0.9934 C=0.0054, G=0.0012
Asian Sub 6366 T=1.0000 C=0.0000, G=0.0000
East Asian Sub 4514 T=1.0000 C=0.0000, G=0.0000
Other Asian Sub 1852 T=1.0000 C=0.0000, G=0.0000
Latin American 1 Sub 454 T=0.996 C=0.004, G=0.000
Latin American 2 Sub 984 T=1.000 C=0.000, G=0.000
South Asian Sub 296 T=1.000 C=0.000, G=0.000
Other Sub 13826 T=0.99906 C=0.00087, G=0.00007


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
TopMed Global Study-wide 125568 T=0.994513 C=0.004961, G=0.000526
ALFA Total Global 87624 T=0.99917 C=0.00074, G=0.00009
ALFA European Sub 78626 T=0.99931 C=0.00061, G=0.00008
ALFA Other Sub 7942 T=0.9987 C=0.0011, G=0.0001
ALFA African Sub 844 T=0.989 C=0.009, G=0.001
ALFA Asian Sub 170 T=1.000 C=0.000, G=0.000
ALFA Latin American 2 Sub 22 T=1.00 C=0.00, G=0.00
ALFA South Asian Sub 14 T=1.00 C=0.00, G=0.00
ALFA Latin American 1 Sub 6 T=1.0 C=0.0, G=0.0
The PAGE Study Global Study-wide 78698 T=0.99262 C=0.00738
The PAGE Study AfricanAmerican Sub 32514 T=0.98527 C=0.01473
The PAGE Study Mexican Sub 10810 T=0.99889 C=0.00111
The PAGE Study Asian Sub 8316 T=1.0000 C=0.0000
The PAGE Study PuertoRican Sub 7918 T=0.9962 C=0.0038
The PAGE Study NativeHawaiian Sub 4534 T=0.9998 C=0.0002
The PAGE Study Cuban Sub 4230 T=0.9965 C=0.0035
The PAGE Study Dominican Sub 3828 T=0.9924 C=0.0076
The PAGE Study CentralAmerican Sub 2450 T=0.9984 C=0.0016
The PAGE Study SouthAmerican Sub 1982 T=0.9980 C=0.0020
The PAGE Study NativeAmerican Sub 1260 T=0.9944 C=0.0056
The PAGE Study SouthAsian Sub 856 T=1.000 C=0.000
GO Exome Sequencing Project Global Study-wide 13006 T=0.99577 C=0.00423
GO Exome Sequencing Project European American Sub 8600 T=0.9999 C=0.0001
GO Exome Sequencing Project African American Sub 4406 T=0.9877 C=0.0123
1000Genomes Global Study-wide 5008 T=0.9960 C=0.0040
1000Genomes African Sub 1322 T=0.9856 C=0.0144
1000Genomes East Asian Sub 1008 T=1.0000 C=0.0000
1000Genomes Europe Sub 1006 T=1.0000 C=0.0000
1000Genomes South Asian Sub 978 T=1.000 C=0.000
1000Genomes American Sub 694 T=0.999 C=0.001
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.9998 G=0.0002
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.9987 G=0.0013
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.9995 G=0.0005
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.998 G=0.002
Northern Sweden ACPOP Study-wide 600 T=0.998 G=0.002
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 T=0.994 G=0.006
PharmGKB Aggregated Global Study-wide 354 T=0.997 C=0.003
PharmGKB Aggregated PA147983613 Sub 354 T=0.997 C=0.003
Qatari Global Study-wide 216 T=0.995 C=0.005
SGDP_PRJ Global Study-wide 6 T=0.5 C=0.5
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.p12 chr 8 NC_000008.11:g.18222824= NC_000008.11:g.18222824T>C NC_000008.11:g.18222824T>G
GRCh37.p13 chr 8 NC_000008.10:g.18080333= NC_000008.10:g.18080333T>C NC_000008.10:g.18080333T>G
NAT1 RefSeqGene NG_012245.2:g.57363= NG_012245.2:g.57363T>C NG_012245.2:g.57363T>G
NAT1 transcript variant 5 NM_000662.8:c.777= NM_000662.8:c.777T>C NM_000662.8:c.777T>G
NAT1 transcript variant 5 NM_000662.7:c.777= NM_000662.7:c.777T>C NM_000662.7:c.777T>G
NAT1 transcript variant 5 NM_000662.5:c.777= NM_000662.5:c.777T>C NM_000662.5:c.777T>G
NAT1 transcript variant 1 NM_001160170.4:c.777= NM_001160170.4:c.777T>C NM_001160170.4:c.777T>G
NAT1 transcript variant 1 NM_001160170.3:c.777= NM_001160170.3:c.777T>C NM_001160170.3:c.777T>G
NAT1 transcript variant 1 NM_001160170.1:c.777= NM_001160170.1:c.777T>C NM_001160170.1:c.777T>G
NAT1 transcript variant 2 NM_001160171.4:c.777= NM_001160171.4:c.777T>C NM_001160171.4:c.777T>G
NAT1 transcript variant 2 NM_001160171.3:c.777= NM_001160171.3:c.777T>C NM_001160171.3:c.777T>G
NAT1 transcript variant 2 NM_001160171.1:c.777= NM_001160171.1:c.777T>C NM_001160171.1:c.777T>G
NAT1 transcript variant 3 NM_001160172.4:c.777= NM_001160172.4:c.777T>C NM_001160172.4:c.777T>G
NAT1 transcript variant 3 NM_001160172.3:c.777= NM_001160172.3:c.777T>C NM_001160172.3:c.777T>G
NAT1 transcript variant 3 NM_001160172.1:c.777= NM_001160172.1:c.777T>C NM_001160172.1:c.777T>G
NAT1 transcript variant 7 NM_001160175.4:c.963= NM_001160175.4:c.963T>C NM_001160175.4:c.963T>G
NAT1 transcript variant 7 NM_001160175.3:c.963= NM_001160175.3:c.963T>C NM_001160175.3:c.963T>G
NAT1 transcript variant 7 NM_001160175.1:c.963= NM_001160175.1:c.963T>C NM_001160175.1:c.963T>G
NAT1 transcript variant 8 NM_001160176.4:c.963= NM_001160176.4:c.963T>C NM_001160176.4:c.963T>G
NAT1 transcript variant 8 NM_001160176.3:c.963= NM_001160176.3:c.963T>C NM_001160176.3:c.963T>G
NAT1 transcript variant 8 NM_001160176.1:c.963= NM_001160176.1:c.963T>C NM_001160176.1:c.963T>G
NAT1 transcript variant 9 NM_001160179.3:c.777= NM_001160179.3:c.777T>C NM_001160179.3:c.777T>G
NAT1 transcript variant 9 NM_001160179.2:c.777= NM_001160179.2:c.777T>C NM_001160179.2:c.777T>G
NAT1 transcript variant 9 NM_001160179.1:c.777= NM_001160179.1:c.777T>C NM_001160179.1:c.777T>G
NAT1 transcript variant 4 NM_001160173.3:c.777= NM_001160173.3:c.777T>C NM_001160173.3:c.777T>G
NAT1 transcript variant 4 NM_001160173.1:c.777= NM_001160173.1:c.777T>C NM_001160173.1:c.777T>G
NAT1 transcript variant 10 NM_001291962.2:c.963= NM_001291962.2:c.963T>C NM_001291962.2:c.963T>G
NAT1 transcript variant 10 NM_001291962.1:c.963= NM_001291962.1:c.963T>C NM_001291962.1:c.963T>G
NAT1 transcript variant 6 NM_001160174.2:c.777= NM_001160174.2:c.777T>C NM_001160174.2:c.777T>G
NAT1 transcript variant 6 NM_001160174.1:c.777= NM_001160174.1:c.777T>C NM_001160174.1:c.777T>G
NAT1 transcript variant X4 XM_006716410.3:c.777= XM_006716410.3:c.777T>C XM_006716410.3:c.777T>G
NAT1 transcript variant X5 XM_011544689.2:c.777= XM_011544689.2:c.777T>C XM_011544689.2:c.777T>G
NAT1 transcript variant X3 XM_017013947.1:c.963= XM_017013947.1:c.963T>C XM_017013947.1:c.963T>G
NAT1 transcript variant X2 XM_011544687.1:c.963= XM_011544687.1:c.963T>C XM_011544687.1:c.963T>G
NAT1 transcript variant X1 XM_011544688.1:c.963= XM_011544688.1:c.963T>C XM_011544688.1:c.963T>G
arylamine N-acetyltransferase 1 isoform a NP_000653.3:p.Ser259= NP_000653.3:p.Ser259= NP_000653.3:p.Ser259Arg
arylamine N-acetyltransferase 1 isoform a NP_001153642.1:p.Ser259= NP_001153642.1:p.Ser259= NP_001153642.1:p.Ser259Arg
arylamine N-acetyltransferase 1 isoform a NP_001153643.1:p.Ser259= NP_001153643.1:p.Ser259= NP_001153643.1:p.Ser259Arg
arylamine N-acetyltransferase 1 isoform a NP_001153644.1:p.Ser259= NP_001153644.1:p.Ser259= NP_001153644.1:p.Ser259Arg
arylamine N-acetyltransferase 1 isoform b NP_001153647.1:p.Ser321= NP_001153647.1:p.Ser321= NP_001153647.1:p.Ser321Arg
arylamine N-acetyltransferase 1 isoform b NP_001153648.1:p.Ser321= NP_001153648.1:p.Ser321= NP_001153648.1:p.Ser321Arg
arylamine N-acetyltransferase 1 isoform a NP_001153651.1:p.Ser259= NP_001153651.1:p.Ser259= NP_001153651.1:p.Ser259Arg
arylamine N-acetyltransferase 1 isoform a NP_001153645.1:p.Ser259= NP_001153645.1:p.Ser259= NP_001153645.1:p.Ser259Arg
arylamine N-acetyltransferase 1 isoform b NP_001278891.1:p.Ser321= NP_001278891.1:p.Ser321= NP_001278891.1:p.Ser321Arg
arylamine N-acetyltransferase 1 isoform a NP_001153646.1:p.Ser259= NP_001153646.1:p.Ser259= NP_001153646.1:p.Ser259Arg
arylamine N-acetyltransferase 1 isoform X2 XP_006716473.1:p.Ser259= XP_006716473.1:p.Ser259= XP_006716473.1:p.Ser259Arg
arylamine N-acetyltransferase 1 isoform X2 XP_011542991.1:p.Ser259= XP_011542991.1:p.Ser259= XP_011542991.1:p.Ser259Arg
arylamine N-acetyltransferase 1 isoform X1 XP_016869436.1:p.Ser321= XP_016869436.1:p.Ser321= XP_016869436.1:p.Ser321Arg
arylamine N-acetyltransferase 1 isoform X1 XP_011542989.1:p.Ser321= XP_011542989.1:p.Ser321= XP_011542989.1:p.Ser321Arg
arylamine N-acetyltransferase 1 isoform X1 XP_011542990.1:p.Ser321= XP_011542990.1:p.Ser321= XP_011542990.1:p.Ser321Arg
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#.

54 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 SNP500CANCER ss5586789 Mar 31, 2003 (113)
2 PHARMGKB_AB_DME ss84168388 Dec 15, 2007 (130)
3 ILLUMINA ss161103328 Dec 01, 2009 (131)
4 1000GENOMES ss234344891 Jul 15, 2010 (132)
5 NHLBI-ESP ss342253592 May 09, 2011 (134)
6 ILLUMINA ss479282281 Sep 08, 2015 (146)
7 1000GENOMES ss490960713 May 04, 2012 (137)
8 EXOME_CHIP ss491410747 May 04, 2012 (137)
9 TISHKOFF ss560587249 Apr 25, 2013 (138)
10 ILLUMINA ss780785094 Aug 21, 2014 (142)
11 ILLUMINA ss783465602 Aug 21, 2014 (142)
12 EVA-GONL ss985254184 Aug 21, 2014 (142)
13 1000GENOMES ss1328847125 Aug 21, 2014 (142)
14 EVA_UK10K_ALSPAC ss1620096465 Apr 01, 2015 (144)
15 EVA_UK10K_TWINSUK ss1663090498 Apr 01, 2015 (144)
16 EVA_EXAC ss1689107727 Apr 01, 2015 (144)
17 EVA_EXAC ss1689107728 Apr 01, 2015 (144)
18 EVA_MGP ss1711194382 Apr 01, 2015 (144)
19 ILLUMINA ss1752722042 Sep 08, 2015 (146)
20 ILLUMINA ss1917826197 Feb 12, 2016 (147)
21 WEILL_CORNELL_DGM ss1928543855 Feb 12, 2016 (147)
22 ILLUMINA ss1946231058 Feb 12, 2016 (147)
23 ILLUMINA ss1959092258 Feb 12, 2016 (147)
24 JJLAB ss2024970099 Sep 14, 2016 (149)
25 HUMAN_LONGEVITY ss2301150688 Dec 20, 2016 (150)
26 TOPMED ss2470808534 Dec 20, 2016 (150)
27 TOPMED ss2470808535 Dec 20, 2016 (150)
28 GNOMAD ss2737016499 Nov 08, 2017 (151)
29 GNOMAD ss2748005881 Nov 08, 2017 (151)
30 GNOMAD ss2863915056 Nov 08, 2017 (151)
31 AFFY ss2985432578 Nov 08, 2017 (151)
32 AFFY ss2986074628 Nov 08, 2017 (151)
33 SWEGEN ss3002777612 Nov 08, 2017 (151)
34 ILLUMINA ss3022824298 Nov 08, 2017 (151)
35 CSIRBIOHTS ss3029637973 Nov 08, 2017 (151)
36 TOPMED ss3555475178 Nov 08, 2017 (151)
37 TOPMED ss3555475179 Nov 08, 2017 (151)
38 ILLUMINA ss3630009306 Oct 12, 2018 (152)
39 ILLUMINA ss3635161161 Oct 12, 2018 (152)
40 ILLUMINA ss3636897923 Oct 12, 2018 (152)
41 ILLUMINA ss3640868451 Oct 12, 2018 (152)
42 ILLUMINA ss3644964234 Oct 12, 2018 (152)
43 ILLUMINA ss3653365120 Oct 12, 2018 (152)
44 ILLUMINA ss3654194366 Oct 12, 2018 (152)
45 EGCUT_WGS ss3670456210 Jul 13, 2019 (153)
46 ILLUMINA ss3726518696 Jul 13, 2019 (153)
47 ACPOP ss3735451687 Jul 13, 2019 (153)
48 ILLUMINA ss3744577625 Jul 13, 2019 (153)
49 ILLUMINA ss3745460954 Jul 13, 2019 (153)
50 PAGE_CC ss3771427369 Jul 13, 2019 (153)
51 ILLUMINA ss3772953555 Jul 13, 2019 (153)
52 KHV_HUMAN_GENOMES ss3810859213 Jul 13, 2019 (153)
53 EVA ss3824350603 Apr 26, 2020 (154)
54 SGDP_PRJ ss3869401324 Apr 26, 2020 (154)
55 1000Genomes NC_000008.10 - 18080333 Oct 12, 2018 (152)
56 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 18080333 Oct 12, 2018 (152)
57 Genetic variation in the Estonian population NC_000008.10 - 18080333 Oct 12, 2018 (152)
58 ExAC

Submission ignored due to conflicting rows:
Row 9201077 (NC_000008.10:18080332:T:T 119738/119914, NC_000008.10:18080332:T:C 176/119914)
Row 9201078 (NC_000008.10:18080332:T:T 119880/119914, NC_000008.10:18080332:T:G 34/119914)

- Oct 12, 2018 (152)
59 ExAC

Submission ignored due to conflicting rows:
Row 9201077 (NC_000008.10:18080332:T:T 119738/119914, NC_000008.10:18080332:T:C 176/119914)
Row 9201078 (NC_000008.10:18080332:T:T 119880/119914, NC_000008.10:18080332:T:G 34/119914)

- Oct 12, 2018 (152)
60 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 111829301 (NC_000008.10:18080332:T:T 31255/31388, NC_000008.10:18080332:T:C 133/31388)
Row 111829302 (NC_000008.10:18080332:T:T 31379/31388, NC_000008.10:18080332:T:G 9/31388)

- Jul 13, 2019 (153)
61 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 111829301 (NC_000008.10:18080332:T:T 31255/31388, NC_000008.10:18080332:T:C 133/31388)
Row 111829302 (NC_000008.10:18080332:T:T 31379/31388, NC_000008.10:18080332:T:G 9/31388)

- Jul 13, 2019 (153)
62 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 6184422 (NC_000008.10:18080332:T:T 244646/244954, NC_000008.10:18080332:T:C 308/244954)
Row 6184423 (NC_000008.10:18080332:T:T 244877/244954, NC_000008.10:18080332:T:G 77/244954)

- Jul 13, 2019 (153)
63 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 6184422 (NC_000008.10:18080332:T:T 244646/244954, NC_000008.10:18080332:T:C 308/244954)
Row 6184423 (NC_000008.10:18080332:T:T 244877/244954, NC_000008.10:18080332:T:G 77/244954)

- Jul 13, 2019 (153)
64 GO Exome Sequencing Project NC_000008.10 - 18080333 Oct 12, 2018 (152)
65 Genome of the Netherlands Release 5 NC_000008.10 - 18080333 Apr 26, 2020 (154)
66 Medical Genome Project healthy controls from Spanish population NC_000008.10 - 18080333 Apr 26, 2020 (154)
67 Northern Sweden NC_000008.10 - 18080333 Jul 13, 2019 (153)
68 The PAGE Study NC_000008.11 - 18222824 Jul 13, 2019 (153)
69 PharmGKB Aggregated NC_000008.11 - 18222824 Apr 26, 2020 (154)
70 Qatari NC_000008.10 - 18080333 Apr 26, 2020 (154)
71 SGDP_PRJ NC_000008.10 - 18080333 Apr 26, 2020 (154)
72 TopMed NC_000008.11 - 18222824 Oct 12, 2018 (152)
73 UK 10K study - Twins NC_000008.10 - 18080333 Oct 12, 2018 (152)
74 dbGaP Population Frequency Project NC_000008.11 - 18222824 Apr 26, 2020 (154)
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)
rs58963813 May 25, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
40940108, 808463, 10585785, 21418304, ss234344891, ss342253592, ss490960713, ss491410747, ss560587249, ss780785094, ss783465602, ss1328847125, ss1689107727, ss1752722042, ss1917826197, ss1928543855, ss1946231058, ss1959092258, ss2470808534, ss2737016499, ss2748005881, ss2863915056, ss2985432578, ss2986074628, ss3022824298, ss3029637973, ss3630009306, ss3635161161, ss3640868451, ss3644964234, ss3653365120, ss3654194366, ss3744577625, ss3745460954, ss3772953555, ss3824350603, ss3869401324 NC_000008.10:18080332:T:C NC_000008.11:18222823:T:C (self)
648838, 12430, 384349564, 856937125, ss2301150688, ss3555475178, ss3726518696, ss3771427369, ss3810859213 NC_000008.11:18222823:T:C NC_000008.11:18222823:T:C (self)
ss5586789, ss84168388 NT_167187.1:5938478:T:C NC_000008.11:18222823:T:C (self)
ss161103328 NC_000008.9:18124612:T:G NC_000008.11:18222823:T:G (self)
22757072, 16194458, 10168798, 310142, 8736552, 22757072, ss234344891, ss479282281, ss985254184, ss1620096465, ss1663090498, ss1689107728, ss1711194382, ss2024970099, ss2470808535, ss2737016499, ss2748005881, ss2863915056, ss3002777612, ss3636897923, ss3670456210, ss3735451687 NC_000008.10:18080332:T:G NC_000008.11:18222823:T:G (self)
384349564, 856937125, ss2301150688, ss3555475179 NC_000008.11:18222823:T:G NC_000008.11:18222823: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.

1 citation for rs4986991
PMID Title Author Year Journal
16416399 Deciphering the ancient and complex evolutionary history of human arylamine N-acetyltransferase genes. Patin E et al. 2006 American journal of human genetics
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.post557+f76c771