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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.

rs27529

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr5:96790605 (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
A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.361578 (103143/285258, ALFA)
A=0.383169 (101421/264690, TOPMED)
A=0.380281 (95538/251230, GnomAD_exome) (+ 24 more)
A=0.373451 (52304/140056, GnomAD)
A=0.379796 (46070/121302, ExAC)
A=0.42052 (33063/78624, PAGE_STUDY)
A=0.43198 (12207/28258, 14KJPN)
A=0.43335 (7263/16760, 8.3KJPN)
A=0.37221 (4841/13006, GO-ESP)
A=0.4051 (2594/6404, 1000G_30x)
A=0.4040 (2023/5008, 1000G)
A=0.3295 (1476/4480, Estonian)
A=0.3399 (1310/3854, ALSPAC)
A=0.3403 (1262/3708, TWINSUK)
G=0.4734 (1387/2930, KOREAN)
A=0.4323 (817/1890, HapMap)
A=0.348 (347/998, GoNL)
G=0.477 (378/792, PRJEB37584)
A=0.425 (261/614, Vietnamese)
A=0.360 (216/600, NorthernSweden)
A=0.464 (248/534, MGP)
A=0.239 (112/468, SGDP_PRJ)
A=0.322 (98/304, FINRISK)
A=0.389 (84/216, Qatari)
A=0.40 (34/84, Ancient Sardinia)
A=0.28 (13/46, Siberian)
A=0.28 (11/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ERAP1 : Missense Variant
Publications
7 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 306424 A=0.361734 G=0.638266, T=0.000000
European Sub 259736 A=0.355265 G=0.644735, T=0.000000
African Sub 14320 A=0.40573 G=0.59427, T=0.00000
African Others Sub 532 A=0.434 G=0.566, T=0.000
African American Sub 13788 A=0.40463 G=0.59537, T=0.00000
Asian Sub 3970 A=0.4909 G=0.5091, T=0.0000
East Asian Sub 3176 A=0.5041 G=0.4959, T=0.0000
Other Asian Sub 794 A=0.438 G=0.562, T=0.000
Latin American 1 Sub 1542 A=0.3923 G=0.6077, T=0.0000
Latin American 2 Sub 8814 A=0.3931 G=0.6069, T=0.0000
South Asian Sub 378 A=0.426 G=0.574, T=0.000
Other Sub 17664 A=0.37245 G=0.62755, T=0.00000


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 285258 A=0.361578 G=0.638422, T=0.000000
Allele Frequency Aggregator European Sub 246732 A=0.356018 G=0.643982, T=0.000000
Allele Frequency Aggregator Other Sub 15442 A=0.37372 G=0.62628, T=0.00000
Allele Frequency Aggregator Latin American 2 Sub 8814 A=0.3931 G=0.6069, T=0.0000
Allele Frequency Aggregator African Sub 8380 A=0.3999 G=0.6001, T=0.0000
Allele Frequency Aggregator Asian Sub 3970 A=0.4909 G=0.5091, T=0.0000
Allele Frequency Aggregator Latin American 1 Sub 1542 A=0.3923 G=0.6077, T=0.0000
Allele Frequency Aggregator South Asian Sub 378 A=0.426 G=0.574, T=0.000
TopMed Global Study-wide 264690 A=0.383169 G=0.616831
gnomAD - Exomes Global Study-wide 251230 A=0.380281 G=0.619719
gnomAD - Exomes European Sub 135252 A=0.346708 G=0.653292
gnomAD - Exomes Asian Sub 48974 A=0.44861 G=0.55139
gnomAD - Exomes American Sub 34578 A=0.38979 G=0.61021
gnomAD - Exomes African Sub 16230 A=0.39304 G=0.60696
gnomAD - Exomes Ashkenazi Jewish Sub 10074 A=0.44312 G=0.55688
gnomAD - Exomes Other Sub 6122 A=0.3845 G=0.6155
gnomAD - Genomes Global Study-wide 140056 A=0.373451 G=0.626549
gnomAD - Genomes European Sub 75884 A=0.34588 G=0.65412
gnomAD - Genomes African Sub 41926 A=0.39515 G=0.60485
gnomAD - Genomes American Sub 13654 A=0.40486 G=0.59514
gnomAD - Genomes Ashkenazi Jewish Sub 3322 A=0.4377 G=0.5623
gnomAD - Genomes East Asian Sub 3122 A=0.5173 G=0.4827
gnomAD - Genomes Other Sub 2148 A=0.4157 G=0.5843
ExAC Global Study-wide 121302 A=0.379796 G=0.620204
ExAC Europe Sub 73312 A=0.35442 G=0.64558
ExAC Asian Sub 25140 A=0.44602 G=0.55398
ExAC American Sub 11570 A=0.38055 G=0.61945
ExAC African Sub 10372 A=0.39578 G=0.60422
ExAC Other Sub 908 A=0.403 G=0.597
The PAGE Study Global Study-wide 78624 A=0.42052 G=0.57948
The PAGE Study AfricanAmerican Sub 32482 A=0.39416 G=0.60584
The PAGE Study Mexican Sub 10800 A=0.40056 G=0.59944
The PAGE Study Asian Sub 8312 A=0.4781 G=0.5219
The PAGE Study PuertoRican Sub 7906 A=0.4190 G=0.5810
The PAGE Study NativeHawaiian Sub 4532 A=0.5993 G=0.4007
The PAGE Study Cuban Sub 4226 A=0.4098 G=0.5902
The PAGE Study Dominican Sub 3824 A=0.4221 G=0.5779
The PAGE Study CentralAmerican Sub 2450 A=0.4086 G=0.5914
The PAGE Study SouthAmerican Sub 1978 A=0.3928 G=0.6072
The PAGE Study NativeAmerican Sub 1258 A=0.3641 G=0.6359
The PAGE Study SouthAsian Sub 856 A=0.408 G=0.592
14KJPN JAPANESE Study-wide 28258 A=0.43198 G=0.56802
8.3KJPN JAPANESE Study-wide 16760 A=0.43335 G=0.56665
GO Exome Sequencing Project Global Study-wide 13006 A=0.37221 G=0.62779
GO Exome Sequencing Project European American Sub 8600 A=0.3563 G=0.6437
GO Exome Sequencing Project African American Sub 4406 A=0.4033 G=0.5967
1000Genomes_30x Global Study-wide 6404 A=0.4051 G=0.5949
1000Genomes_30x African Sub 1786 A=0.4054 G=0.5946
1000Genomes_30x Europe Sub 1266 A=0.3491 G=0.6509
1000Genomes_30x South Asian Sub 1202 A=0.4143 G=0.5857
1000Genomes_30x East Asian Sub 1170 A=0.4590 G=0.5410
1000Genomes_30x American Sub 980 A=0.401 G=0.599
1000Genomes Global Study-wide 5008 A=0.4040 G=0.5960
1000Genomes African Sub 1322 A=0.4024 G=0.5976
1000Genomes East Asian Sub 1008 A=0.4544 G=0.5456
1000Genomes Europe Sub 1006 A=0.3499 G=0.6501
1000Genomes South Asian Sub 978 A=0.409 G=0.591
1000Genomes American Sub 694 A=0.405 G=0.595
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.3295 G=0.6705
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.3399 G=0.6601
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.3403 G=0.6597
KOREAN population from KRGDB KOREAN Study-wide 2930 A=0.5266 G=0.4734, T=0.0000
HapMap Global Study-wide 1890 A=0.4323 G=0.5677
HapMap American Sub 770 A=0.401 G=0.599
HapMap African Sub 690 A=0.464 G=0.536
HapMap Asian Sub 254 A=0.476 G=0.524
HapMap Europe Sub 176 A=0.381 G=0.619
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 A=0.348 G=0.652
CNV burdens in cranial meningiomas Global Study-wide 792 A=0.523 G=0.477
CNV burdens in cranial meningiomas CRM Sub 792 A=0.523 G=0.477
A Vietnamese Genetic Variation Database Global Study-wide 614 A=0.425 G=0.575
Northern Sweden ACPOP Study-wide 600 A=0.360 G=0.640
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 A=0.464 G=0.536
SGDP_PRJ Global Study-wide 468 A=0.239 G=0.761
FINRISK Finnish from FINRISK project Study-wide 304 A=0.322 G=0.678
Qatari Global Study-wide 216 A=0.389 G=0.611
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 84 A=0.40 G=0.60
Siberian Global Study-wide 46 A=0.28 G=0.72
The Danish reference pan genome Danish Study-wide 40 A=0.28 G=0.72
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 5 NC_000005.10:g.96790605A>G
GRCh38.p14 chr 5 NC_000005.10:g.96790605A>T
GRCh37.p13 chr 5 NC_000005.9:g.96126308A>G
GRCh37.p13 chr 5 NC_000005.9:g.96126308A>T
ERAP1 RefSeqGene NG_027839.2:g.150379T>C
ERAP1 RefSeqGene NG_027839.2:g.150379T>A
Gene: ERAP1, endoplasmic reticulum aminopeptidase 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ERAP1 transcript variant 2 NM_001040458.3:c.1359T>C S [AGT] > S [AGC] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform b precursor NP_001035548.1:p.Ser453= S (Ser) > S (Ser) Synonymous Variant
ERAP1 transcript variant 2 NM_001040458.3:c.1359T>A S [AGT] > R [AGA] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform b precursor NP_001035548.1:p.Ser453Arg S (Ser) > R (Arg) Missense Variant
ERAP1 transcript variant 4 NM_001349244.2:c.1359T>C S [AGT] > S [AGC] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform a precursor NP_001336173.1:p.Ser453= S (Ser) > S (Ser) Synonymous Variant
ERAP1 transcript variant 4 NM_001349244.2:c.1359T>A S [AGT] > R [AGA] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform a precursor NP_001336173.1:p.Ser453Arg S (Ser) > R (Arg) Missense Variant
ERAP1 transcript variant 1 NM_016442.5:c.1359T>C S [AGT] > S [AGC] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform a precursor NP_057526.3:p.Ser453= S (Ser) > S (Ser) Synonymous Variant
ERAP1 transcript variant 1 NM_016442.5:c.1359T>A S [AGT] > R [AGA] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform a precursor NP_057526.3:p.Ser453Arg S (Ser) > R (Arg) Missense Variant
ERAP1 transcript variant 3 NM_001198541.3:c.1359T>C S [AGT] > S [AGC] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform b precursor NP_001185470.1:p.Ser453= S (Ser) > S (Ser) Synonymous Variant
ERAP1 transcript variant 3 NM_001198541.3:c.1359T>A S [AGT] > R [AGA] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform b precursor NP_001185470.1:p.Ser453Arg S (Ser) > R (Arg) Missense Variant
ERAP1 transcript variant X1 XM_005272016.5:c.1359T>C S [AGT] > S [AGC] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform X1 XP_005272073.1:p.Ser453= S (Ser) > S (Ser) Synonymous Variant
ERAP1 transcript variant X1 XM_005272016.5:c.1359T>A S [AGT] > R [AGA] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform X1 XP_005272073.1:p.Ser453Arg S (Ser) > R (Arg) Missense Variant
ERAP1 transcript variant X2 XM_047417305.1:c.1359T>C S [AGT] > S [AGC] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform X1 XP_047273261.1:p.Ser453= S (Ser) > S (Ser) Synonymous Variant
ERAP1 transcript variant X2 XM_047417305.1:c.1359T>A S [AGT] > R [AGA] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform X1 XP_047273261.1:p.Ser453Arg S (Ser) > R (Arg) Missense Variant
ERAP1 transcript variant X3 XM_017009581.2:c.1359T>C S [AGT] > S [AGC] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform X1 XP_016865070.1:p.Ser453= S (Ser) > S (Ser) Synonymous Variant
ERAP1 transcript variant X3 XM_017009581.2:c.1359T>A S [AGT] > R [AGA] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform X1 XP_016865070.1:p.Ser453Arg S (Ser) > R (Arg) Missense Variant
ERAP1 transcript variant X4 XM_047417306.1:c.1359T>C S [AGT] > S [AGC] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform X1 XP_047273262.1:p.Ser453= S (Ser) > S (Ser) Synonymous Variant
ERAP1 transcript variant X4 XM_047417306.1:c.1359T>A S [AGT] > R [AGA] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform X1 XP_047273262.1:p.Ser453Arg S (Ser) > R (Arg) Missense Variant
ERAP1 transcript variant X5 XM_005272015.6:c.1359T>C S [AGT] > S [AGC] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform X1 XP_005272072.1:p.Ser453= S (Ser) > S (Ser) Synonymous Variant
ERAP1 transcript variant X5 XM_005272015.6:c.1359T>A S [AGT] > R [AGA] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform X1 XP_005272072.1:p.Ser453Arg S (Ser) > R (Arg) Missense Variant
ERAP1 transcript variant X6 XM_011543485.3:c.1359T>C S [AGT] > S [AGC] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform X1 XP_011541787.1:p.Ser453= S (Ser) > S (Ser) Synonymous Variant
ERAP1 transcript variant X6 XM_011543485.3:c.1359T>A S [AGT] > R [AGA] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform X1 XP_011541787.1:p.Ser453Arg S (Ser) > R (Arg) Missense Variant
ERAP1 transcript variant X7 XM_047417307.1:c.1359T>C S [AGT] > S [AGC] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform X1 XP_047273263.1:p.Ser453= S (Ser) > S (Ser) Synonymous Variant
ERAP1 transcript variant X7 XM_047417307.1:c.1359T>A S [AGT] > R [AGA] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform X1 XP_047273263.1:p.Ser453Arg S (Ser) > R (Arg) Missense Variant
ERAP1 transcript variant X8 XM_011543484.3:c.1359T>C S [AGT] > S [AGC] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform X1 XP_011541786.1:p.Ser453= S (Ser) > S (Ser) Synonymous Variant
ERAP1 transcript variant X8 XM_011543484.3:c.1359T>A S [AGT] > R [AGA] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform X1 XP_011541786.1:p.Ser453Arg S (Ser) > R (Arg) Missense Variant
ERAP1 transcript variant X9 XM_011543486.4:c.1359T>C S [AGT] > S [AGC] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform X2 XP_011541788.1:p.Ser453= S (Ser) > S (Ser) Synonymous Variant
ERAP1 transcript variant X9 XM_011543486.4:c.1359T>A S [AGT] > R [AGA] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform X2 XP_011541788.1:p.Ser453Arg S (Ser) > R (Arg) Missense Variant
ERAP1 transcript variant X10 XM_047417308.1:c.1359T>C S [AGT] > S [AGC] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform X3 XP_047273264.1:p.Ser453= S (Ser) > S (Ser) Synonymous Variant
ERAP1 transcript variant X10 XM_047417308.1:c.1359T>A S [AGT] > R [AGA] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform X3 XP_047273264.1:p.Ser453Arg S (Ser) > R (Arg) Missense Variant
ERAP1 transcript variant X11 XM_047417309.1:c.1359T>C S [AGT] > S [AGC] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform X3 XP_047273265.1:p.Ser453= S (Ser) > S (Ser) Synonymous Variant
ERAP1 transcript variant X11 XM_047417309.1:c.1359T>A S [AGT] > R [AGA] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform X3 XP_047273265.1:p.Ser453Arg S (Ser) > R (Arg) Missense Variant
ERAP1 transcript variant X12 XM_047417310.1:c.1359T>C S [AGT] > S [AGC] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform X3 XP_047273266.1:p.Ser453= S (Ser) > S (Ser) Synonymous Variant
ERAP1 transcript variant X12 XM_047417310.1:c.1359T>A S [AGT] > R [AGA] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform X3 XP_047273266.1:p.Ser453Arg S (Ser) > R (Arg) Missense Variant
ERAP1 transcript variant X13 XM_017009583.3:c.264T>C S [AGT] > S [AGC] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform X4 XP_016865072.1:p.Ser88= S (Ser) > S (Ser) Synonymous Variant
ERAP1 transcript variant X13 XM_017009583.3:c.264T>A S [AGT] > R [AGA] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform X4 XP_016865072.1:p.Ser88Arg S (Ser) > R (Arg) Missense Variant
ERAP1 transcript variant X14 XM_047417311.1:c.1359T>C S [AGT] > S [AGC] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform X5 XP_047273267.1:p.Ser453= S (Ser) > S (Ser) Synonymous Variant
ERAP1 transcript variant X14 XM_047417311.1:c.1359T>A S [AGT] > R [AGA] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform X5 XP_047273267.1:p.Ser453Arg S (Ser) > R (Arg) Missense Variant
ERAP1 transcript variant X15 XM_047417312.1:c.1359T>C S [AGT] > S [AGC] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform X5 XP_047273268.1:p.Ser453= S (Ser) > S (Ser) Synonymous Variant
ERAP1 transcript variant X15 XM_047417312.1:c.1359T>A S [AGT] > R [AGA] Coding Sequence Variant
endoplasmic reticulum aminopeptidase 1 isoform X5 XP_047273268.1:p.Ser453Arg 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
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 A= G T
GRCh38.p14 chr 5 NC_000005.10:g.96790605= NC_000005.10:g.96790605A>G NC_000005.10:g.96790605A>T
GRCh37.p13 chr 5 NC_000005.9:g.96126308= NC_000005.9:g.96126308A>G NC_000005.9:g.96126308A>T
ERAP1 RefSeqGene NG_027839.2:g.150379= NG_027839.2:g.150379T>C NG_027839.2:g.150379T>A
ERAP1 transcript variant 1 NM_016442.5:c.1359= NM_016442.5:c.1359T>C NM_016442.5:c.1359T>A
ERAP1 transcript variant 1 NM_016442.4:c.1359= NM_016442.4:c.1359T>C NM_016442.4:c.1359T>A
ERAP1 transcript variant 1 NM_016442.3:c.1359= NM_016442.3:c.1359T>C NM_016442.3:c.1359T>A
ERAP1 transcript variant 3 NM_001198541.3:c.1359= NM_001198541.3:c.1359T>C NM_001198541.3:c.1359T>A
ERAP1 transcript variant 3 NM_001198541.2:c.1359= NM_001198541.2:c.1359T>C NM_001198541.2:c.1359T>A
ERAP1 transcript variant 3 NM_001198541.1:c.1359= NM_001198541.1:c.1359T>C NM_001198541.1:c.1359T>A
ERAP1 transcript variant 2 NM_001040458.3:c.1359= NM_001040458.3:c.1359T>C NM_001040458.3:c.1359T>A
ERAP1 transcript variant 2 NM_001040458.2:c.1359= NM_001040458.2:c.1359T>C NM_001040458.2:c.1359T>A
ERAP1 transcript variant 2 NM_001040458.1:c.1359= NM_001040458.1:c.1359T>C NM_001040458.1:c.1359T>A
ERAP1 transcript variant 4 NM_001349244.2:c.1359= NM_001349244.2:c.1359T>C NM_001349244.2:c.1359T>A
ERAP1 transcript variant 4 NM_001349244.1:c.1359= NM_001349244.1:c.1359T>C NM_001349244.1:c.1359T>A
ERAP1 transcript variant X5 XM_005272015.6:c.1359= XM_005272015.6:c.1359T>C XM_005272015.6:c.1359T>A
ERAP1 transcript variant X1 XM_005272015.5:c.1359= XM_005272015.5:c.1359T>C XM_005272015.5:c.1359T>A
ERAP1 transcript variant X1 XM_005272015.4:c.1359= XM_005272015.4:c.1359T>C XM_005272015.4:c.1359T>A
ERAP1 transcript variant X1 XM_005272015.3:c.1359= XM_005272015.3:c.1359T>C XM_005272015.3:c.1359T>A
ERAP1 transcript variant X1 XM_005272015.2:c.1359= XM_005272015.2:c.1359T>C XM_005272015.2:c.1359T>A
ERAP1 transcript variant X1 XM_005272015.1:c.1359= XM_005272015.1:c.1359T>C XM_005272015.1:c.1359T>A
ERAP1 transcript variant X1 XM_005272016.5:c.1359= XM_005272016.5:c.1359T>C XM_005272016.5:c.1359T>A
ERAP1 transcript variant X2 XM_005272016.4:c.1359= XM_005272016.4:c.1359T>C XM_005272016.4:c.1359T>A
ERAP1 transcript variant X2 XM_005272016.3:c.1359= XM_005272016.3:c.1359T>C XM_005272016.3:c.1359T>A
ERAP1 transcript variant X2 XM_005272016.2:c.1359= XM_005272016.2:c.1359T>C XM_005272016.2:c.1359T>A
ERAP1 transcript variant X2 XM_005272016.1:c.1359= XM_005272016.1:c.1359T>C XM_005272016.1:c.1359T>A
ERAP1 transcript variant X9 XM_011543486.4:c.1359= XM_011543486.4:c.1359T>C XM_011543486.4:c.1359T>A
ERAP1 transcript variant X9 XM_011543486.3:c.1359= XM_011543486.3:c.1359T>C XM_011543486.3:c.1359T>A
ERAP1 transcript variant X9 XM_011543486.2:c.1359= XM_011543486.2:c.1359T>C XM_011543486.2:c.1359T>A
ERAP1 transcript variant X9 XM_011543486.1:c.1359= XM_011543486.1:c.1359T>C XM_011543486.1:c.1359T>A
ERAP1 transcript variant X8 XM_011543484.3:c.1359= XM_011543484.3:c.1359T>C XM_011543484.3:c.1359T>A
ERAP1 transcript variant X5 XM_011543484.2:c.1359= XM_011543484.2:c.1359T>C XM_011543484.2:c.1359T>A
ERAP1 transcript variant X7 XM_011543484.1:c.1359= XM_011543484.1:c.1359T>C XM_011543484.1:c.1359T>A
ERAP1 transcript variant X6 XM_011543485.3:c.1359= XM_011543485.3:c.1359T>C XM_011543485.3:c.1359T>A
ERAP1 transcript variant X6 XM_011543485.2:c.1359= XM_011543485.2:c.1359T>C XM_011543485.2:c.1359T>A
ERAP1 transcript variant X8 XM_011543485.1:c.1359= XM_011543485.1:c.1359T>C XM_011543485.1:c.1359T>A
ERAP1 transcript variant X13 XM_017009583.3:c.264= XM_017009583.3:c.264T>C XM_017009583.3:c.264T>A
ERAP1 transcript variant X10 XM_017009583.2:c.264= XM_017009583.2:c.264T>C XM_017009583.2:c.264T>A
ERAP1 transcript variant X11 XM_017009583.1:c.264= XM_017009583.1:c.264T>C XM_017009583.1:c.264T>A
ERAP1 transcript variant X3 XM_017009581.2:c.1359= XM_017009581.2:c.1359T>C XM_017009581.2:c.1359T>A
ERAP1 transcript variant X7 XM_017009581.1:c.1359= XM_017009581.1:c.1359T>C XM_017009581.1:c.1359T>A
ERAP1 transcript variant X12 XM_047417310.1:c.1359= XM_047417310.1:c.1359T>C XM_047417310.1:c.1359T>A
ERAP1 transcript variant X10 XM_047417308.1:c.1359= XM_047417308.1:c.1359T>C XM_047417308.1:c.1359T>A
ERAP1 transcript variant X11 XM_047417309.1:c.1359= XM_047417309.1:c.1359T>C XM_047417309.1:c.1359T>A
ERAP1 transcript variant X7 XM_047417307.1:c.1359= XM_047417307.1:c.1359T>C XM_047417307.1:c.1359T>A
ERAP1 transcript variant X4 XM_047417306.1:c.1359= XM_047417306.1:c.1359T>C XM_047417306.1:c.1359T>A
ERAP1 transcript variant X2 XM_047417305.1:c.1359= XM_047417305.1:c.1359T>C XM_047417305.1:c.1359T>A
ERAP1 transcript variant X14 XM_047417311.1:c.1359= XM_047417311.1:c.1359T>C XM_047417311.1:c.1359T>A
ERAP1 transcript variant X15 XM_047417312.1:c.1359= XM_047417312.1:c.1359T>C XM_047417312.1:c.1359T>A
endoplasmic reticulum aminopeptidase 1 isoform a precursor NP_057526.3:p.Ser453= NP_057526.3:p.Ser453= NP_057526.3:p.Ser453Arg
endoplasmic reticulum aminopeptidase 1 isoform b precursor NP_001185470.1:p.Ser453= NP_001185470.1:p.Ser453= NP_001185470.1:p.Ser453Arg
endoplasmic reticulum aminopeptidase 1 isoform b precursor NP_001035548.1:p.Ser453= NP_001035548.1:p.Ser453= NP_001035548.1:p.Ser453Arg
endoplasmic reticulum aminopeptidase 1 isoform a precursor NP_001336173.1:p.Ser453= NP_001336173.1:p.Ser453= NP_001336173.1:p.Ser453Arg
endoplasmic reticulum aminopeptidase 1 isoform X1 XP_005272072.1:p.Ser453= XP_005272072.1:p.Ser453= XP_005272072.1:p.Ser453Arg
endoplasmic reticulum aminopeptidase 1 isoform X1 XP_005272073.1:p.Ser453= XP_005272073.1:p.Ser453= XP_005272073.1:p.Ser453Arg
endoplasmic reticulum aminopeptidase 1 isoform X2 XP_011541788.1:p.Ser453= XP_011541788.1:p.Ser453= XP_011541788.1:p.Ser453Arg
endoplasmic reticulum aminopeptidase 1 isoform X1 XP_011541786.1:p.Ser453= XP_011541786.1:p.Ser453= XP_011541786.1:p.Ser453Arg
endoplasmic reticulum aminopeptidase 1 isoform X1 XP_011541787.1:p.Ser453= XP_011541787.1:p.Ser453= XP_011541787.1:p.Ser453Arg
endoplasmic reticulum aminopeptidase 1 isoform X4 XP_016865072.1:p.Ser88= XP_016865072.1:p.Ser88= XP_016865072.1:p.Ser88Arg
endoplasmic reticulum aminopeptidase 1 isoform X1 XP_016865070.1:p.Ser453= XP_016865070.1:p.Ser453= XP_016865070.1:p.Ser453Arg
endoplasmic reticulum aminopeptidase 1 isoform X3 XP_047273266.1:p.Ser453= XP_047273266.1:p.Ser453= XP_047273266.1:p.Ser453Arg
endoplasmic reticulum aminopeptidase 1 isoform X3 XP_047273264.1:p.Ser453= XP_047273264.1:p.Ser453= XP_047273264.1:p.Ser453Arg
endoplasmic reticulum aminopeptidase 1 isoform X3 XP_047273265.1:p.Ser453= XP_047273265.1:p.Ser453= XP_047273265.1:p.Ser453Arg
endoplasmic reticulum aminopeptidase 1 isoform X1 XP_047273263.1:p.Ser453= XP_047273263.1:p.Ser453= XP_047273263.1:p.Ser453Arg
endoplasmic reticulum aminopeptidase 1 isoform X1 XP_047273262.1:p.Ser453= XP_047273262.1:p.Ser453= XP_047273262.1:p.Ser453Arg
endoplasmic reticulum aminopeptidase 1 isoform X1 XP_047273261.1:p.Ser453= XP_047273261.1:p.Ser453= XP_047273261.1:p.Ser453Arg
endoplasmic reticulum aminopeptidase 1 isoform X5 XP_047273267.1:p.Ser453= XP_047273267.1:p.Ser453= XP_047273267.1:p.Ser453Arg
endoplasmic reticulum aminopeptidase 1 isoform X5 XP_047273268.1:p.Ser453= XP_047273268.1:p.Ser453= XP_047273268.1:p.Ser453Arg
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#.

166 SubSNP, 27 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss30065 May 08, 2000 (76)
2 KWOK ss31907 May 08, 2000 (76)
3 KWOK ss44676 May 08, 2000 (76)
4 KWOK ss45052 May 08, 2000 (76)
5 KWOK ss315971 Jul 10, 2000 (79)
6 KWOK ss317783 Jul 10, 2000 (79)
7 SC_JCM ss639226 Jul 16, 2000 (80)
8 KWOK ss1200270 Oct 04, 2000 (86)
9 KWOK ss1268338 Oct 04, 2000 (86)
10 KWOK ss1851047 Oct 18, 2000 (87)
11 YUSUKE ss3215070 Sep 28, 2001 (100)
12 WI_SSAHASNP ss6728285 Feb 20, 2003 (111)
13 PERLEGEN ss23439171 Sep 20, 2004 (123)
14 ABI ss44657076 Mar 13, 2006 (126)
15 ILLUMINA ss65733908 Oct 15, 2006 (127)
16 AFFY ss66345530 Nov 30, 2006 (127)
17 ILLUMINA ss74875347 Dec 07, 2007 (129)
18 AFFY ss76053194 Dec 08, 2007 (130)
19 AFFY ss76856967 Dec 08, 2007 (130)
20 SI_EXO ss76886073 Dec 07, 2007 (129)
21 KRIBB_YJKIM ss81404896 Dec 15, 2007 (130)
22 BCMHGSC_JDW ss93177905 Mar 24, 2008 (129)
23 HUMANGENOME_JCVI ss98633715 Feb 05, 2009 (130)
24 ILLUMINA-UK ss116719914 Feb 14, 2009 (130)
25 ENSEMBL ss143295955 Dec 01, 2009 (131)
26 ENSEMBL ss144227961 Dec 01, 2009 (131)
27 GMI ss155761850 Dec 01, 2009 (131)
28 SEATTLESEQ ss159709770 Dec 01, 2009 (131)
29 ILLUMINA ss160576251 Dec 01, 2009 (131)
30 COMPLETE_GENOMICS ss162464878 Jul 04, 2010 (132)
31 COMPLETE_GENOMICS ss165524638 Jul 04, 2010 (132)
32 COMPLETE_GENOMICS ss166828474 Jul 04, 2010 (132)
33 AFFY ss172332947 Jul 04, 2010 (132)
34 ILLUMINA ss173453100 Jul 04, 2010 (132)
35 BUSHMAN ss200552877 Jul 04, 2010 (132)
36 1000GENOMES ss210615148 Jul 14, 2010 (132)
37 1000GENOMES ss211672343 Jul 14, 2010 (132)
38 1000GENOMES ss221819553 Jul 14, 2010 (132)
39 1000GENOMES ss233046661 Jul 14, 2010 (132)
40 1000GENOMES ss240195766 Jul 15, 2010 (132)
41 GMI ss278389222 May 04, 2012 (137)
42 GMI ss285220823 Apr 25, 2013 (138)
43 PJP ss293415275 May 09, 2011 (134)
44 NHLBI-ESP ss342185158 May 09, 2011 (134)
45 ILLUMINA ss480654908 May 04, 2012 (137)
46 ILLUMINA ss480670352 May 04, 2012 (137)
47 ILLUMINA ss481519069 Sep 08, 2015 (146)
48 ILLUMINA ss485122347 May 04, 2012 (137)
49 1000GENOMES ss490907418 May 04, 2012 (137)
50 CLINSEQ_SNP ss491870077 May 04, 2012 (137)
51 ILLUMINA ss537123470 Sep 08, 2015 (146)
52 TISHKOFF ss558555031 Apr 25, 2013 (138)
53 SSMP ss652437164 Apr 25, 2013 (138)
54 ILLUMINA ss778878118 Aug 21, 2014 (142)
55 ILLUMINA ss783007526 Aug 21, 2014 (142)
56 ILLUMINA ss783967849 Aug 21, 2014 (142)
57 ILLUMINA ss832264814 Apr 01, 2015 (144)
58 ILLUMINA ss834339098 Aug 21, 2014 (142)
59 JMKIDD_LAB ss974456580 Aug 21, 2014 (142)
60 EVA-GONL ss981847358 Aug 21, 2014 (142)
61 JMKIDD_LAB ss1067469840 Aug 21, 2014 (142)
62 JMKIDD_LAB ss1072837771 Aug 21, 2014 (142)
63 1000GENOMES ss1316172676 Aug 21, 2014 (142)
64 DDI ss1430425494 Apr 01, 2015 (144)
65 EVA_GENOME_DK ss1581243146 Apr 01, 2015 (144)
66 EVA_FINRISK ss1584039930 Apr 01, 2015 (144)
67 EVA_DECODE ss1591366420 Apr 01, 2015 (144)
68 EVA_UK10K_ALSPAC ss1613458991 Apr 01, 2015 (144)
69 EVA_UK10K_TWINSUK ss1656453024 Apr 01, 2015 (144)
70 EVA_EXAC ss1687891535 Apr 01, 2015 (144)
71 EVA_MGP ss1711092820 Apr 01, 2015 (144)
72 EVA_SVP ss1712783125 Apr 01, 2015 (144)
73 ILLUMINA ss1752590934 Sep 08, 2015 (146)
74 WEILL_CORNELL_DGM ss1925098221 Feb 12, 2016 (147)
75 ILLUMINA ss1946150244 Feb 12, 2016 (147)
76 ILLUMINA ss1958805795 Feb 12, 2016 (147)
77 GENOMED ss1970150540 Jul 19, 2016 (147)
78 JJLAB ss2023155250 Sep 14, 2016 (149)
79 ILLUMINA ss2094940522 Dec 20, 2016 (150)
80 ILLUMINA ss2095158762 Dec 20, 2016 (150)
81 USC_VALOUEV ss2151311958 Dec 20, 2016 (150)
82 HUMAN_LONGEVITY ss2275969357 Dec 20, 2016 (150)
83 SYSTEMSBIOZJU ss2626072937 Nov 08, 2017 (151)
84 ILLUMINA ss2634310843 Nov 08, 2017 (151)
85 GRF ss2706868504 Nov 08, 2017 (151)
86 ILLUMINA ss2711043975 Nov 08, 2017 (151)
87 GNOMAD ss2735131353 Nov 08, 2017 (151)
88 GNOMAD ss2747423589 Nov 08, 2017 (151)
89 GNOMAD ss2827784270 Nov 08, 2017 (151)
90 AFFY ss2985328591 Nov 08, 2017 (151)
91 SWEGEN ss2997373824 Nov 08, 2017 (151)
92 ILLUMINA ss3022509771 Nov 08, 2017 (151)
93 EVA_SAMSUNG_MC ss3023061291 Nov 08, 2017 (151)
94 BIOINF_KMB_FNS_UNIBA ss3025361933 Nov 08, 2017 (151)
95 BRNLABQUT ss3029952464 Nov 08, 2017 (151)
96 CSHL ss3346507457 Nov 08, 2017 (151)
97 ILLUMINA ss3625878762 Oct 12, 2018 (152)
98 ILLUMINA ss3629290696 Oct 12, 2018 (152)
99 ILLUMINA ss3632236316 Oct 12, 2018 (152)
100 ILLUMINA ss3633382544 Oct 12, 2018 (152)
101 ILLUMINA ss3634103443 Oct 12, 2018 (152)
102 ILLUMINA ss3635012780 Oct 12, 2018 (152)
103 ILLUMINA ss3635785325 Oct 12, 2018 (152)
104 ILLUMINA ss3636724960 Oct 12, 2018 (152)
105 ILLUMINA ss3637537956 Oct 12, 2018 (152)
106 ILLUMINA ss3638568053 Oct 12, 2018 (152)
107 ILLUMINA ss3640720073 Oct 12, 2018 (152)
108 ILLUMINA ss3643513080 Oct 12, 2018 (152)
109 ILLUMINA ss3644883209 Oct 12, 2018 (152)
110 OMUKHERJEE_ADBS ss3646322512 Oct 12, 2018 (152)
111 URBANLAB ss3648119280 Oct 12, 2018 (152)
112 ILLUMINA ss3653007541 Oct 12, 2018 (152)
113 ILLUMINA ss3653007542 Oct 12, 2018 (152)
114 EGCUT_WGS ss3665264904 Jul 13, 2019 (153)
115 EVA_DECODE ss3715201312 Jul 13, 2019 (153)
116 ILLUMINA ss3726252194 Jul 13, 2019 (153)
117 ACPOP ss3732589480 Jul 13, 2019 (153)
118 ILLUMINA ss3744256528 Jul 13, 2019 (153)
119 ILLUMINA ss3745312995 Jul 13, 2019 (153)
120 EVA ss3763751534 Jul 13, 2019 (153)
121 PAGE_CC ss3771217685 Jul 13, 2019 (153)
122 ILLUMINA ss3772807078 Jul 13, 2019 (153)
123 PACBIO ss3785181988 Jul 13, 2019 (153)
124 PACBIO ss3790576114 Jul 13, 2019 (153)
125 PACBIO ss3795452753 Jul 13, 2019 (153)
126 KHV_HUMAN_GENOMES ss3806916152 Jul 13, 2019 (153)
127 EVA ss3824099539 Apr 26, 2020 (154)
128 EVA ss3825522545 Apr 26, 2020 (154)
129 EVA ss3825538692 Apr 26, 2020 (154)
130 EVA ss3825676822 Apr 26, 2020 (154)
131 EVA ss3829375408 Apr 26, 2020 (154)
132 EVA ss3838162037 Apr 26, 2020 (154)
133 EVA ss3843603548 Apr 26, 2020 (154)
134 SGDP_PRJ ss3862424636 Apr 26, 2020 (154)
135 KRGDB ss3909028893 Apr 26, 2020 (154)
136 FSA-LAB ss3984311723 Apr 26, 2021 (155)
137 FSA-LAB ss3984311724 Apr 26, 2021 (155)
138 EVA ss3984550919 Apr 26, 2021 (155)
139 EVA ss3985156263 Apr 26, 2021 (155)
140 EVA ss3986031041 Apr 26, 2021 (155)
141 EVA ss3986313946 Apr 26, 2021 (155)
142 TOPMED ss4669572828 Apr 26, 2021 (155)
143 TOMMO_GENOMICS ss5172989451 Apr 26, 2021 (155)
144 EVA ss5237014221 Apr 26, 2021 (155)
145 EVA ss5237186519 Apr 26, 2021 (155)
146 EVA ss5237644020 Oct 17, 2022 (156)
147 1000G_HIGH_COVERAGE ss5264925577 Oct 17, 2022 (156)
148 TRAN_CS_UWATERLOO ss5314413274 Oct 17, 2022 (156)
149 EVA ss5315069814 Oct 17, 2022 (156)
150 HUGCELL_USP ss5463002866 Oct 17, 2022 (156)
151 EVA ss5508111878 Oct 17, 2022 (156)
152 1000G_HIGH_COVERAGE ss5549083354 Oct 17, 2022 (156)
153 EVA ss5624148809 Oct 17, 2022 (156)
154 SANFORD_IMAGENETICS ss5638347175 Oct 17, 2022 (156)
155 TOMMO_GENOMICS ss5709741164 Oct 17, 2022 (156)
156 EVA ss5799655827 Oct 17, 2022 (156)
157 EVA ss5800122924 Oct 17, 2022 (156)
158 YY_MCH ss5806549406 Oct 17, 2022 (156)
159 EVA ss5835291354 Oct 17, 2022 (156)
160 EVA ss5848057505 Oct 17, 2022 (156)
161 EVA ss5848631242 Oct 17, 2022 (156)
162 EVA ss5854918554 Oct 17, 2022 (156)
163 EVA ss5895270701 Oct 17, 2022 (156)
164 EVA ss5936527613 Oct 17, 2022 (156)
165 EVA ss5966792786 Oct 17, 2022 (156)
166 EVA ss5981229297 Oct 17, 2022 (156)
167 1000Genomes NC_000005.9 - 96126308 Oct 12, 2018 (152)
168 1000Genomes_30x NC_000005.10 - 96790605 Oct 17, 2022 (156)
169 The Avon Longitudinal Study of Parents and Children NC_000005.9 - 96126308 Oct 12, 2018 (152)
170 Genetic variation in the Estonian population NC_000005.9 - 96126308 Oct 12, 2018 (152)
171 ExAC NC_000005.9 - 96126308 Oct 12, 2018 (152)
172 FINRISK NC_000005.9 - 96126308 Apr 26, 2020 (154)
173 The Danish reference pan genome NC_000005.9 - 96126308 Apr 26, 2020 (154)
174 gnomAD - Genomes NC_000005.10 - 96790605 Apr 26, 2021 (155)
175 gnomAD - Exomes NC_000005.9 - 96126308 Jul 13, 2019 (153)
176 GO Exome Sequencing Project NC_000005.9 - 96126308 Oct 12, 2018 (152)
177 Genome of the Netherlands Release 5 NC_000005.9 - 96126308 Apr 26, 2020 (154)
178 HapMap NC_000005.10 - 96790605 Apr 26, 2020 (154)
179 KOREAN population from KRGDB NC_000005.9 - 96126308 Apr 26, 2020 (154)
180 Medical Genome Project healthy controls from Spanish population NC_000005.9 - 96126308 Apr 26, 2020 (154)
181 Northern Sweden NC_000005.9 - 96126308 Jul 13, 2019 (153)
182 The PAGE Study NC_000005.10 - 96790605 Jul 13, 2019 (153)
183 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000005.9 - 96126308 Apr 26, 2021 (155)
184 CNV burdens in cranial meningiomas NC_000005.9 - 96126308 Apr 26, 2021 (155)
185 Qatari NC_000005.9 - 96126308 Apr 26, 2020 (154)
186 SGDP_PRJ NC_000005.9 - 96126308 Apr 26, 2020 (154)
187 Siberian NC_000005.9 - 96126308 Apr 26, 2020 (154)
188 8.3KJPN NC_000005.9 - 96126308 Apr 26, 2021 (155)
189 14KJPN NC_000005.10 - 96790605 Oct 17, 2022 (156)
190 TopMed NC_000005.10 - 96790605 Apr 26, 2021 (155)
191 UK 10K study - Twins NC_000005.9 - 96126308 Oct 12, 2018 (152)
192 A Vietnamese Genetic Variation Database NC_000005.9 - 96126308 Jul 13, 2019 (153)
193 ALFA NC_000005.10 - 96790605 Apr 26, 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)
rs56541852 May 25, 2008 (130)
rs58224148 Feb 27, 2009 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss66345530, ss76053194, ss76856967, ss93177905, ss116719914, ss160576251, ss162464878, ss165524638, ss166828474, ss172332947, ss200552877, ss210615148, ss211672343, ss278389222, ss285220823, ss293415275, ss480654908, ss491870077, ss1591366420, ss1712783125, ss2094940522, ss3643513080 NC_000005.8:96152063:A:G NC_000005.10:96790604:A:G (self)
27813333, 15467599, 11003152, 7889782, 36391, 7408085, 4251537, 557663, 6873126, 16206287, 208580, 5874345, 382190, 100290, 7140151, 14441616, 3828312, 30958758, 15467599, 3431514, ss221819553, ss233046661, ss240195766, ss342185158, ss480670352, ss481519069, ss485122347, ss490907418, ss537123470, ss558555031, ss652437164, ss778878118, ss783007526, ss783967849, ss832264814, ss834339098, ss974456580, ss981847358, ss1067469840, ss1072837771, ss1316172676, ss1430425494, ss1581243146, ss1584039930, ss1613458991, ss1656453024, ss1687891535, ss1711092820, ss1752590934, ss1925098221, ss1946150244, ss1958805795, ss1970150540, ss2023155250, ss2095158762, ss2151311958, ss2626072937, ss2634310843, ss2706868504, ss2711043975, ss2735131353, ss2747423589, ss2827784270, ss2985328591, ss2997373824, ss3022509771, ss3023061291, ss3029952464, ss3346507457, ss3625878762, ss3629290696, ss3632236316, ss3633382544, ss3634103443, ss3635012780, ss3635785325, ss3636724960, ss3637537956, ss3638568053, ss3640720073, ss3644883209, ss3646322512, ss3653007541, ss3653007542, ss3665264904, ss3732589480, ss3744256528, ss3745312995, ss3763751534, ss3772807078, ss3785181988, ss3790576114, ss3795452753, ss3824099539, ss3825522545, ss3825538692, ss3825676822, ss3829375408, ss3838162037, ss3862424636, ss3909028893, ss3984311723, ss3984311724, ss3984550919, ss3985156263, ss3986031041, ss3986313946, ss5172989451, ss5315069814, ss5508111878, ss5624148809, ss5638347175, ss5799655827, ss5800122924, ss5835291354, ss5848057505, ss5848631242, ss5936527613, ss5966792786, ss5981229297 NC_000005.9:96126307:A:G NC_000005.10:96790604:A:G (self)
36609289, 196745821, 2918543, 439154, 43578268, 506950385, 5599411870, ss2275969357, ss3025361933, ss3648119280, ss3715201312, ss3726252194, ss3771217685, ss3806916152, ss3843603548, ss4669572828, ss5237014221, ss5237186519, ss5237644020, ss5264925577, ss5314413274, ss5463002866, ss5549083354, ss5709741164, ss5806549406, ss5854918554, ss5895270701 NC_000005.10:96790604:A:G NC_000005.10:96790604:A:G (self)
ss76886073 NT_023148.12:4440179:A:G NC_000005.10:96790604:A:G (self)
ss30065, ss31907, ss44676, ss45052, ss315971, ss317783, ss639226, ss1200270, ss1268338, ss1851047, ss3215070, ss6728285, ss23439171, ss44657076, ss65733908, ss74875347, ss81404896, ss98633715, ss143295955, ss144227961, ss155761850, ss159709770, ss173453100 NT_034772.6:4440179:A:G NC_000005.10:96790604:A:G (self)
16206287, ss3909028893, ss5981229297 NC_000005.9:96126307:A:T NC_000005.10:96790604:A:T (self)
5599411870 NC_000005.10:96790604:A:T NC_000005.10:96790604:A:T (self)
Help

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

7 citations for rs27529
PMID Title Author Year Journal
19578876 The ERAP2 gene is associated with preeclampsia in Australian and Norwegian populations. Johnson MP et al. 2009 Human genetics
19692350 Investigating the genetic association between ERAP1 and ankylosing spondylitis. Harvey D et al. 2009 Human molecular genetics
20062062 Genome-wide association study of ankylosing spondylitis identifies non-MHC susceptibility loci. Reveille JD et al. 2010 Nature genetics
21078719 ERAP1 is associated with ankylosing spondylitis in Han Chinese. Li C et al. 2011 The Journal of rheumatology
32492107 Genomewide Association Study of Acute Anterior Uveitis Identifies New Susceptibility Loci. Huang XF et al. 2020 Investigative ophthalmology & visual science
35379982 Progress in the genetics of uveitis. Huang XF et al. 2022 Genes and immunity
35629038 Searching for New Genetic Biomarkers of Axial Spondyloarthritis. Bugaj B et al. 2022 Journal of clinical medicine
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