Name: rs149078
Published: September 21, 2022
License: Open Access

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.

rs149078

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr5:96779489 (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: G>A
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.340357 (90089/264690, TOPMED)
A=0.303315 (60797/200442, ALFA)
A=0.336482 (47096/139966, GnomAD) (+ 20 more)
A=0.34450 (9735/28258, 14KJPN)
A=0.34326 (5753/16760, 8.3KJPN)
A=0.3460 (2216/6404, 1000G_30x)
A=0.3433 (1719/5008, 1000G)
A=0.2998 (1343/4480, Estonian)
A=0.2836 (1093/3854, ALSPAC)
A=0.2875 (1066/3708, TWINSUK)
A=0.2778 (814/2930, KOREAN)
A=0.3201 (667/2084, HGDP_Stanford)
A=0.3344 (632/1890, HapMap)
A=0.2729 (500/1832, Korea1K)
A=0.3536 (401/1134, Daghestan)
A=0.284 (283/998, GoNL)
A=0.287 (172/600, NorthernSweden)
G=0.386 (112/290, SGDP_PRJ)
A=0.250 (54/216, Qatari)
A=0.379 (81/214, Vietnamese)
A=0.32 (22/68, Ancient Sardinia)
A=0.23 (9/40, GENOME_DK)
G=0.45 (9/20, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ERAP1 : Intron Variant
Publications: 2 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	200442	G=0.696685	A=0.303315
European	Sub	174626	G=0.704059	A=0.295941
African	Sub	9724	G=0.5644	A=0.4356
African Others	Sub	348	G=0.566	A=0.434
African American	Sub	9376	G=0.5643	A=0.4357
Asian	Sub	704	G=0.733	A=0.267
East Asian	Sub	558	G=0.719	A=0.281
Other Asian	Sub	146	G=0.788	A=0.212
Latin American 1	Sub	784	G=0.666	A=0.334
Latin American 2	Sub	2842	G=0.7139	A=0.2861
South Asian	Sub	5034	G=0.6923	A=0.3077
Other	Sub	6728	G=0.6923	A=0.3077

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	G=0.659643	A=0.340357
Allele Frequency Aggregator	Total	Global	200442	G=0.696685	A=0.303315
Allele Frequency Aggregator	European	Sub	174626	G=0.704059	A=0.295941
Allele Frequency Aggregator	African	Sub	9724	G=0.5644	A=0.4356
Allele Frequency Aggregator	Other	Sub	6728	G=0.6923	A=0.3077
Allele Frequency Aggregator	South Asian	Sub	5034	G=0.6923	A=0.3077
Allele Frequency Aggregator	Latin American 2	Sub	2842	G=0.7139	A=0.2861
Allele Frequency Aggregator	Latin American 1	Sub	784	G=0.666	A=0.334
Allele Frequency Aggregator	Asian	Sub	704	G=0.733	A=0.267
gnomAD - Genomes	Global	Study-wide	139966	G=0.663518	A=0.336482
gnomAD - Genomes	European	Sub	75836	G=0.71059	A=0.28941
gnomAD - Genomes	African	Sub	41904	G=0.56582	A=0.43418
gnomAD - Genomes	American	Sub	13640	G=0.67808	A=0.32192
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	G=0.6902	A=0.3098
gnomAD - Genomes	East Asian	Sub	3124	G=0.7314	A=0.2686
gnomAD - Genomes	Other	Sub	2140	G=0.6752	A=0.3248
14KJPN	JAPANESE	Study-wide	28258	G=0.65550	A=0.34450
8.3KJPN	JAPANESE	Study-wide	16760	G=0.65674	A=0.34326
1000Genomes_30x	Global	Study-wide	6404	G=0.6540	A=0.3460
1000Genomes_30x	African	Sub	1786	G=0.5414	A=0.4586
1000Genomes_30x	Europe	Sub	1266	G=0.7314	A=0.2686
1000Genomes_30x	South Asian	Sub	1202	G=0.6414	A=0.3586
1000Genomes_30x	East Asian	Sub	1170	G=0.7068	A=0.2932
1000Genomes_30x	American	Sub	980	G=0.711	A=0.289
1000Genomes	Global	Study-wide	5008	G=0.6567	A=0.3433
1000Genomes	African	Sub	1322	G=0.5401	A=0.4599
1000Genomes	East Asian	Sub	1008	G=0.7024	A=0.2976
1000Genomes	Europe	Sub	1006	G=0.7406	A=0.2594
1000Genomes	South Asian	Sub	978	G=0.638	A=0.362
1000Genomes	American	Sub	694	G=0.718	A=0.282
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.7002	A=0.2998
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.7164	A=0.2836
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.7125	A=0.2875
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.7222	A=0.2778
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	G=0.6799	A=0.3201
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	G=0.679	A=0.321
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	G=0.703	A=0.297
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	G=0.663	A=0.337
HGDP-CEPH-db Supplement 1	Europe	Sub	320	G=0.728	A=0.272
HGDP-CEPH-db Supplement 1	Africa	Sub	242	G=0.541	A=0.459
HGDP-CEPH-db Supplement 1	America	Sub	216	G=0.787	A=0.213
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	G=0.57	A=0.43
HapMap	Global	Study-wide	1890	G=0.6656	A=0.3344
HapMap	American	Sub	770	G=0.710	A=0.290
HapMap	African	Sub	690	G=0.565	A=0.435
HapMap	Asian	Sub	254	G=0.736	A=0.264
HapMap	Europe	Sub	176	G=0.761	A=0.239
Korean Genome Project	KOREAN	Study-wide	1832	G=0.7271	A=0.2729
Genome-wide autozygosity in Daghestan	Global	Study-wide	1134	G=0.6464	A=0.3536
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	G=0.627	A=0.373
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	G=0.660	A=0.340
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	G=0.746	A=0.254
Genome-wide autozygosity in Daghestan	Europe	Sub	106	G=0.689	A=0.311
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	G=0.57	A=0.43
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	G=0.67	A=0.33
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.716	A=0.284
Northern Sweden	ACPOP	Study-wide	600	G=0.713	A=0.287
SGDP_PRJ	Global	Study-wide	290	G=0.386	A=0.614
Qatari	Global	Study-wide	216	G=0.750	A=0.250
A Vietnamese Genetic Variation Database	Global	Study-wide	214	G=0.621	A=0.379
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	68	G=0.68	A=0.32
The Danish reference pan genome	Danish	Study-wide	40	G=0.78	A=0.23
Siberian	Global	Study-wide	20	G=0.45	A=0.55

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.96779489G>A
GRCh37.p13 chr 5	NC_000005.9:g.96115193G>A
ERAP1 RefSeqGene	NG_027839.2:g.161495C>T

Gene: ERAP1, endoplasmic reticulum aminopeptidase 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ERAP1 transcript variant 2	NM_001040458.3:c.2670+934… NM_001040458.3:c.2670+934C>T	N/A	Intron Variant
ERAP1 transcript variant 3	NM_001198541.3:c.2670+934… NM_001198541.3:c.2670+934C>T	N/A	Intron Variant
ERAP1 transcript variant 4	NM_001349244.2:c.2670+934… NM_001349244.2:c.2670+934C>T	N/A	Intron Variant
ERAP1 transcript variant 1	NM_016442.5:c.2670+934C>T	N/A	Intron Variant
ERAP1 transcript variant X5	XM_005272015.6:c.2670+934… XM_005272015.6:c.2670+934C>T	N/A	Intron Variant
ERAP1 transcript variant X1	XM_005272016.5:c.2670+934… XM_005272016.5:c.2670+934C>T	N/A	Intron Variant
ERAP1 transcript variant X8	XM_011543484.3:c.2670+934… XM_011543484.3:c.2670+934C>T	N/A	Intron Variant
ERAP1 transcript variant X6	XM_011543485.3:c.2670+934… XM_011543485.3:c.2670+934C>T	N/A	Intron Variant
ERAP1 transcript variant X9	XM_011543486.4:c.2670+934… XM_011543486.4:c.2670+934C>T	N/A	Intron Variant
ERAP1 transcript variant X3	XM_017009581.2:c.2670+934… XM_017009581.2:c.2670+934C>T	N/A	Intron Variant
ERAP1 transcript variant X13	XM_017009583.3:c.1575+934… XM_017009583.3:c.1575+934C>T	N/A	Intron Variant
ERAP1 transcript variant X2	XM_047417305.1:c.2670+934… XM_047417305.1:c.2670+934C>T	N/A	Intron Variant
ERAP1 transcript variant X4	XM_047417306.1:c.2670+934… XM_047417306.1:c.2670+934C>T	N/A	Intron Variant
ERAP1 transcript variant X7	XM_047417307.1:c.2670+934… XM_047417307.1:c.2670+934C>T	N/A	Intron Variant
ERAP1 transcript variant X10	XM_047417308.1:c.2670+934… XM_047417308.1:c.2670+934C>T	N/A	Intron Variant
ERAP1 transcript variant X11	XM_047417309.1:c.2670+934… XM_047417309.1:c.2670+934C>T	N/A	Intron Variant
ERAP1 transcript variant X12	XM_047417310.1:c.2670+934… XM_047417310.1:c.2670+934C>T	N/A	Intron Variant
ERAP1 transcript variant X14	XM_047417311.1:c.	N/A	Genic Downstream Transcript Variant
ERAP1 transcript variant X15	XM_047417312.1:c.	N/A	Genic Downstream Transcript Variant

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

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	G=	A
GRCh38.p14 chr 5	NC_000005.10:g.96779489=	NC_000005.10:g.96779489G>A
GRCh37.p13 chr 5	NC_000005.9:g.96115193=	NC_000005.9:g.96115193G>A
ERAP1 RefSeqGene	NG_027839.2:g.161495=	NG_027839.2:g.161495C>T
ERAP1 transcript variant 2	NM_001040458.1:c.2670+934=	NM_001040458.1:c.2670+934C>T
ERAP1 transcript variant 2	NM_001040458.3:c.2670+934=	NM_001040458.3:c.2670+934C>T
ERAP1 transcript variant 3	NM_001198541.1:c.2670+934=	NM_001198541.1:c.2670+934C>T
ERAP1 transcript variant 3	NM_001198541.3:c.2670+934=	NM_001198541.3:c.2670+934C>T
ERAP1 transcript variant 4	NM_001349244.2:c.2670+934=	NM_001349244.2:c.2670+934C>T
ERAP1 transcript variant 1	NM_016442.3:c.2670+934=	NM_016442.3:c.2670+934C>T
ERAP1 transcript variant 1	NM_016442.5:c.2670+934=	NM_016442.5:c.2670+934C>T
ERAP1 transcript variant X1	XM_005272015.1:c.2670+934=	XM_005272015.1:c.2670+934C>T
ERAP1 transcript variant X5	XM_005272015.6:c.2670+934=	XM_005272015.6:c.2670+934C>T
ERAP1 transcript variant X2	XM_005272016.1:c.2670+934=	XM_005272016.1:c.2670+934C>T
ERAP1 transcript variant X1	XM_005272016.5:c.2670+934=	XM_005272016.5:c.2670+934C>T
ERAP1 transcript variant X3	XM_005272017.1:c.2106+934=	XM_005272017.1:c.2106+934C>T
ERAP1 transcript variant X8	XM_011543484.3:c.2670+934=	XM_011543484.3:c.2670+934C>T
ERAP1 transcript variant X6	XM_011543485.3:c.2670+934=	XM_011543485.3:c.2670+934C>T
ERAP1 transcript variant X9	XM_011543486.4:c.2670+934=	XM_011543486.4:c.2670+934C>T
ERAP1 transcript variant X3	XM_017009581.2:c.2670+934=	XM_017009581.2:c.2670+934C>T
ERAP1 transcript variant X13	XM_017009583.3:c.1575+934=	XM_017009583.3:c.1575+934C>T
ERAP1 transcript variant X2	XM_047417305.1:c.2670+934=	XM_047417305.1:c.2670+934C>T
ERAP1 transcript variant X4	XM_047417306.1:c.2670+934=	XM_047417306.1:c.2670+934C>T
ERAP1 transcript variant X7	XM_047417307.1:c.2670+934=	XM_047417307.1:c.2670+934C>T
ERAP1 transcript variant X10	XM_047417308.1:c.2670+934=	XM_047417308.1:c.2670+934C>T
ERAP1 transcript variant X11	XM_047417309.1:c.2670+934=	XM_047417309.1:c.2670+934C>T
ERAP1 transcript variant X12	XM_047417310.1:c.2670+934=	XM_047417310.1:c.2670+934C>T

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#.

137 SubSNP, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	KWOK	ss221385	Jul 12, 2000 (79)
2	KWOK	ss221401	Jul 12, 2000 (79)
3	KWOK	ss221404	Jul 12, 2000 (85)
4	KWOK	ss224832	Jul 12, 2000 (85)
5	KWOK	ss224835	Jul 12, 2000 (85)
6	SC_JCM	ss640077	Jul 16, 2000 (80)
7	KWOK	ss1069446	Oct 04, 2000 (86)
8	KWOK	ss1192339	Oct 04, 2000 (86)
9	KWOK	ss1192925	Oct 04, 2000 (86)
10	KWOK	ss1197811	Oct 04, 2000 (86)
11	KWOK	ss1198736	Oct 04, 2000 (86)
12	KWOK	ss1262005	Oct 04, 2000 (86)
13	KWOK	ss1768980	Oct 18, 2000 (87)
14	KWOK	ss1770584	Oct 18, 2000 (87)
15	KWOK	ss1814444	Oct 18, 2000 (87)
16	KWOK	ss1824149	Oct 18, 2000 (87)
17	KWOK	ss1824393	Oct 18, 2000 (87)
18	WI_SSAHASNP	ss11710722	Jul 11, 2003 (116)
19	CSHL-HAPMAP	ss19624472	Feb 27, 2004 (120)
20	PERLEGEN	ss23438920	Sep 20, 2004 (123)
21	ABI	ss44632009	Mar 13, 2006 (126)
22	ILLUMINA	ss67116912	Dec 02, 2006 (127)
23	ILLUMINA	ss67454548	Dec 02, 2006 (127)
24	ILLUMINA	ss68156766	Dec 12, 2006 (127)
25	PERLEGEN	ss68942920	May 18, 2007 (127)
26	ILLUMINA	ss70624341	May 23, 2008 (130)
27	ILLUMINA	ss71173454	May 18, 2007 (127)
28	ILLUMINA	ss75619056	Dec 06, 2007 (129)
29	HGSV	ss82453801	Dec 14, 2007 (130)
30	KRIBB_YJKIM	ss83367642	Dec 14, 2007 (130)
31	HUMANGENOME_JCVI	ss98745836	Feb 04, 2009 (130)
32	1000GENOMES	ss109232473	Jan 23, 2009 (130)
33	1000GENOMES	ss112219406	Jan 25, 2009 (130)
34	ILLUMINA-UK	ss116719856	Feb 14, 2009 (130)
35	ENSEMBL	ss143629182	Dec 01, 2009 (131)
36	ILLUMINA	ss153469834	Dec 01, 2009 (131)
37	GMI	ss155761544	Dec 01, 2009 (131)
38	ILLUMINA	ss159276342	Dec 01, 2009 (131)
39	ILLUMINA	ss160361518	Dec 01, 2009 (131)
40	COMPLETE_GENOMICS	ss165524345	Jul 04, 2010 (132)
41	COMPLETE_GENOMICS	ss166828232	Jul 04, 2010 (132)
42	ILLUMINA	ss172538417	Jul 04, 2010 (132)
43	BUSHMAN	ss200552645	Jul 04, 2010 (132)
44	1000GENOMES	ss221819492	Jul 14, 2010 (132)
45	1000GENOMES	ss233046583	Jul 14, 2010 (132)
46	1000GENOMES	ss240195724	Jul 15, 2010 (132)
47	BL	ss253636036	May 09, 2011 (134)
48	GMI	ss278389168	May 04, 2012 (137)
49	PJP	ss293415232	May 09, 2011 (134)
50	ILLUMINA	ss479999555	May 04, 2012 (137)
51	ILLUMINA	ss480008234	May 04, 2012 (137)
52	ILLUMINA	ss480663737	Sep 08, 2015 (146)
53	ILLUMINA	ss484797864	May 04, 2012 (137)
54	ILLUMINA	ss536881120	Sep 08, 2015 (146)
55	TISHKOFF	ss558554967	Apr 25, 2013 (138)
56	SSMP	ss652437070	Apr 25, 2013 (138)
57	ILLUMINA	ss778809458	Sep 08, 2015 (146)
58	ILLUMINA	ss782845582	Sep 08, 2015 (146)
59	ILLUMINA	ss783810188	Sep 08, 2015 (146)
60	ILLUMINA	ss832099379	Sep 08, 2015 (146)
61	ILLUMINA	ss832788493	Jul 13, 2019 (153)
62	ILLUMINA	ss834269705	Sep 08, 2015 (146)
63	EVA-GONL	ss981847206	Aug 21, 2014 (142)
64	JMKIDD_LAB	ss1072837660	Aug 21, 2014 (142)
65	1000GENOMES	ss1316172318	Aug 21, 2014 (142)
66	HAMMER_LAB	ss1397420809	Sep 08, 2015 (146)
67	DDI	ss1430425414	Apr 01, 2015 (144)
68	EVA_GENOME_DK	ss1581243063	Apr 01, 2015 (144)
69	EVA_DECODE	ss1591366276	Apr 01, 2015 (144)
70	EVA_UK10K_ALSPAC	ss1613458762	Apr 01, 2015 (144)
71	EVA_UK10K_TWINSUK	ss1656452795	Apr 01, 2015 (144)
72	EVA_SVP	ss1712783108	Apr 01, 2015 (144)
73	ILLUMINA	ss1752590907	Sep 08, 2015 (146)
74	HAMMER_LAB	ss1803873923	Sep 08, 2015 (146)
75	WEILL_CORNELL_DGM	ss1925098072	Feb 12, 2016 (147)
76	GENOMED	ss1970150483	Jul 19, 2016 (147)
77	JJLAB	ss2023155152	Sep 14, 2016 (149)
78	ILLUMINA	ss2094940449	Dec 20, 2016 (150)
79	ILLUMINA	ss2095158688	Dec 20, 2016 (150)
80	USC_VALOUEV	ss2151311852	Dec 20, 2016 (150)
81	HUMAN_LONGEVITY	ss2275968701	Dec 20, 2016 (150)
82	SYSTEMSBIOZJU	ss2626072887	Nov 08, 2017 (151)
83	ILLUMINA	ss2634310812	Nov 08, 2017 (151)
84	GRF	ss2706868424	Nov 08, 2017 (151)
85	GNOMAD	ss2827783394	Nov 08, 2017 (151)
86	AFFY	ss2985328441	Nov 08, 2017 (151)
87	SWEGEN	ss2997373641	Nov 08, 2017 (151)
88	BIOINF_KMB_FNS_UNIBA	ss3025361859	Nov 08, 2017 (151)
89	BRNLABQUT	ss3029952392	Nov 08, 2017 (151)
90	CSHL	ss3346507364	Nov 08, 2017 (151)
91	ILLUMINA	ss3629290629	Oct 12, 2018 (152)
92	ILLUMINA	ss3632236289	Oct 12, 2018 (152)
93	ILLUMINA	ss3633382538	Oct 12, 2018 (152)
94	ILLUMINA	ss3634103437	Oct 12, 2018 (152)
95	ILLUMINA	ss3635012753	Oct 12, 2018 (152)
96	ILLUMINA	ss3635785319	Oct 12, 2018 (152)
97	ILLUMINA	ss3636724950	Oct 12, 2018 (152)
98	ILLUMINA	ss3637537950	Oct 12, 2018 (152)
99	ILLUMINA	ss3638568038	Oct 12, 2018 (152)
100	ILLUMINA	ss3639286568	Oct 12, 2018 (152)
101	ILLUMINA	ss3639940493	Oct 12, 2018 (152)
102	ILLUMINA	ss3640720046	Oct 12, 2018 (152)
103	ILLUMINA	ss3643513066	Oct 12, 2018 (152)
104	ILLUMINA	ss3643985953	Oct 12, 2018 (152)
105	URBANLAB	ss3648119217	Oct 12, 2018 (152)
106	ILLUMINA	ss3653007424	Oct 12, 2018 (152)
107	EGCUT_WGS	ss3665264722	Jul 13, 2019 (153)
108	EVA_DECODE	ss3715201077	Jul 13, 2019 (153)
109	ACPOP	ss3732589327	Jul 13, 2019 (153)
110	ILLUMINA	ss3745312968	Jul 13, 2019 (153)
111	EVA	ss3763751385	Jul 13, 2019 (153)
112	ILLUMINA	ss3772807051	Jul 13, 2019 (153)
113	KHV_HUMAN_GENOMES	ss3806915993	Jul 13, 2019 (153)
114	EVA	ss3829375296	Apr 26, 2020 (154)
115	EVA	ss3838161959	Apr 26, 2020 (154)
116	EVA	ss3843603469	Apr 26, 2020 (154)
117	HGDP	ss3847799154	Apr 26, 2020 (154)
118	SGDP_PRJ	ss3862424427	Apr 26, 2020 (154)
119	KRGDB	ss3909028709	Apr 26, 2020 (154)
120	KOGIC	ss3957185734	Apr 26, 2020 (154)
121	EVA	ss3985156246	Apr 26, 2021 (155)
122	EVA	ss4017219893	Apr 26, 2021 (155)
123	TOPMED	ss4669570374	Apr 26, 2021 (155)
124	TOMMO_GENOMICS	ss5172989093	Apr 26, 2021 (155)
125	1000G_HIGH_COVERAGE	ss5264925255	Oct 17, 2022 (156)
126	EVA	ss5315069796	Oct 17, 2022 (156)
127	HUGCELL_USP	ss5463002559	Oct 17, 2022 (156)
128	EVA	ss5508111787	Oct 17, 2022 (156)
129	1000G_HIGH_COVERAGE	ss5549082924	Oct 17, 2022 (156)
130	SANFORD_IMAGENETICS	ss5638346957	Oct 17, 2022 (156)
131	TOMMO_GENOMICS	ss5709740686	Oct 17, 2022 (156)
132	EVA	ss5799655821	Oct 17, 2022 (156)
133	YY_MCH	ss5806549291	Oct 17, 2022 (156)
134	EVA	ss5835291184	Oct 17, 2022 (156)
135	EVA	ss5854918494	Oct 17, 2022 (156)
136	EVA	ss5895270319	Oct 17, 2022 (156)
137	EVA	ss5966792539	Oct 17, 2022 (156)
138	1000Genomes	NC_000005.9 - 96115193	Oct 12, 2018 (152)
139	1000Genomes_30x	NC_000005.10 - 96779489	Oct 17, 2022 (156)
140	The Avon Longitudinal Study of Parents and Children	NC_000005.9 - 96115193	Oct 12, 2018 (152)
141	Genome-wide autozygosity in Daghestan	NC_000005.8 - 96140949	Apr 26, 2020 (154)
142	Genetic variation in the Estonian population	NC_000005.9 - 96115193	Oct 12, 2018 (152)
143	The Danish reference pan genome	NC_000005.9 - 96115193	Apr 26, 2020 (154)
144	gnomAD - Genomes	NC_000005.10 - 96779489	Apr 26, 2021 (155)
145	Genome of the Netherlands Release 5	NC_000005.9 - 96115193	Apr 26, 2020 (154)
146	HGDP-CEPH-db Supplement 1	NC_000005.8 - 96140949	Apr 26, 2020 (154)
147	HapMap	NC_000005.10 - 96779489	Apr 26, 2020 (154)
148	KOREAN population from KRGDB	NC_000005.9 - 96115193	Apr 26, 2020 (154)
149	Korean Genome Project	NC_000005.10 - 96779489	Apr 26, 2020 (154)
150	Northern Sweden	NC_000005.9 - 96115193	Jul 13, 2019 (153)
151	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000005.9 - 96115193	Apr 26, 2021 (155)
152	Qatari	NC_000005.9 - 96115193	Apr 26, 2020 (154)
153	SGDP_PRJ	NC_000005.9 - 96115193	Apr 26, 2020 (154)
154	Siberian	NC_000005.9 - 96115193	Apr 26, 2020 (154)
155	8.3KJPN	NC_000005.9 - 96115193	Apr 26, 2021 (155)
156	14KJPN	NC_000005.10 - 96779489	Oct 17, 2022 (156)
157	TopMed	NC_000005.10 - 96779489	Apr 26, 2021 (155)
158	UK 10K study - Twins	NC_000005.9 - 96115193	Oct 12, 2018 (152)
159	A Vietnamese Genetic Variation Database	NC_000005.9 - 96115193	Jul 13, 2019 (153)
160	ALFA	NC_000005.10 - 96779489	Apr 26, 2021 (155)

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)
rs165963	Sep 19, 2000 (85)
rs168661	Sep 19, 2000 (85)
rs168663	Sep 19, 2000 (85)
rs57141675	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
395749, 477046, ss82453801, ss109232473, ss112219406, ss116719856, ss165524345, ss166828232, ss200552645, ss253636036, ss278389168, ss293415232, ss479999555, ss1397420809, ss1591366276, ss1712783108, ss2094940449, ss3639286568, ss3639940493, ss3643513066, ss3643985953, ss3847799154	NC_000005.8:96140948:G:A	NC_000005.10:96779488:G:A	(self)
27812954, 15467337, 11002970, 7408002, 6872974, 16206103, 5874192, 382173, 7140002, 14441407, 3828206, 30958400, 15467337, 3431421, ss221819492, ss233046583, ss240195724, ss480008234, ss480663737, ss484797864, ss536881120, ss558554967, ss652437070, ss778809458, ss782845582, ss783810188, ss832099379, ss832788493, ss834269705, ss981847206, ss1072837660, ss1316172318, ss1430425414, ss1581243063, ss1613458762, ss1656452795, ss1752590907, ss1803873923, ss1925098072, ss1970150483, ss2023155152, ss2095158688, ss2151311852, ss2626072887, ss2634310812, ss2706868424, ss2827783394, ss2985328441, ss2997373641, ss3029952392, ss3346507364, ss3629290629, ss3632236289, ss3633382538, ss3634103437, ss3635012753, ss3635785319, ss3636724950, ss3637537950, ss3638568038, ss3640720046, ss3653007424, ss3665264722, ss3732589327, ss3745312968, ss3763751385, ss3772807051, ss3829375296, ss3838161959, ss3862424427, ss3909028709, ss3985156246, ss4017219893, ss5172989093, ss5315069796, ss5508111787, ss5638346957, ss5799655821, ss5835291184, ss5966792539	NC_000005.9:96115192:G:A	NC_000005.10:96779488:G:A	(self)
36608859, 196743671, 2918502, 13563735, 43577790, 506947931, 12643842539, ss2275968701, ss3025361859, ss3648119217, ss3715201077, ss3806915993, ss3843603469, ss3957185734, ss4669570374, ss5264925255, ss5463002559, ss5549082924, ss5709740686, ss5806549291, ss5854918494, ss5895270319	NC_000005.10:96779488:G:A	NC_000005.10:96779488:G:A	(self)
ss11710722	NT_023148.11:4429063:G:A	NC_000005.10:96779488:G:A	(self)
ss19624472	NT_023148.12:4429064:G:A	NC_000005.10:96779488:G:A	(self)
ss221385, ss221401, ss221404, ss224832, ss224835, ss640077, ss1069446, ss1192339, ss1192925, ss1197811, ss1198736, ss1262005, ss1768980, ss1770584, ss1814444, ss1824149, ss1824393, ss23438920, ss44632009, ss67116912, ss67454548, ss68156766, ss68942920, ss70624341, ss71173454, ss75619056, ss83367642, ss98745836, ss143629182, ss153469834, ss155761544, ss159276342, ss160361518, ss172538417	NT_034772.6:4429064:G:A	NC_000005.10:96779488:G:A	(self)

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

2 citations for rs149078

PMID	Title	Author	Year	Journal
20347630	Identification of T. gondii epitopes, adjuvants, and host genetic factors that influence protection of mice and humans.	Tan TG et al.	2010	Vaccine
27766139	Methodology for single nucleotide polymorphism selection in promoter regions for clinical use. An example of its applicability.	Marques H et al.	2016	International journal of molecular epidemiology and genetics

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs149078