Name: rs1884601
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.

rs1884601

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr20:16263358 (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 / G>C / G>T
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.331271 (87684/264690, TOPMED)
G=0.351868 (49296/140098, GnomAD)
G=0.41532 (12663/30490, ALFA) (+ 15 more)
G=0.2300 (1473/6404, 1000G_30x)
G=0.2240 (1122/5008, 1000G)
G=0.4547 (2037/4480, Estonian)
G=0.4624 (1782/3854, ALSPAC)
G=0.4571 (1695/3708, TWINSUK)
G=0.0027 (8/2930, KOREAN)
G=0.0044 (8/1832, Korea1K)
G=0.459 (458/998, GoNL)
T=0.483 (290/600, NorthernSweden)
G=0.140 (71/506, SGDP_PRJ)
G=0.380 (82/216, Qatari)
G=0.023 (5/216, Vietnamese)
G=0.16 (9/56, Siberian)
G=0.50 (20/40, GENOME_DK)
T=0.50 (20/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: None
Publications: 0 citations
Genomic View: See rs on genome

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

Release Version: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	30490	G=0.41532	T=0.58468
European	Sub	24452	G=0.45608	T=0.54392
African	Sub	3134	G=0.1710	T=0.8290
African Others	Sub	124	G=0.161	T=0.839
African American	Sub	3010	G=0.1714	T=0.8286
Asian	Sub	126	G=0.008	T=0.992
East Asian	Sub	98	G=0.00	T=1.00
Other Asian	Sub	28	G=0.04	T=0.96
Latin American 1	Sub	164	G=0.421	T=0.579
Latin American 2	Sub	682	G=0.292	T=0.708
South Asian	Sub	114	G=0.193	T=0.807
Other	Sub	1818	G=0.3762	T=0.6238

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=0.331271	T=0.668729
gnomAD - Genomes	Global	Study-wide	140098	G=0.351868	T=0.648132
gnomAD - Genomes	European	Sub	75858	G=0.45676	T=0.54324
gnomAD - Genomes	African	Sub	41988	G=0.17534	T=0.82466
gnomAD - Genomes	American	Sub	13648	G=0.36745	T=0.63255
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	G=0.4477	T=0.5523
gnomAD - Genomes	East Asian	Sub	3130	G=0.0064	T=0.9936
gnomAD - Genomes	Other	Sub	2150	G=0.3544	T=0.6456
Allele Frequency Aggregator	Total	Global	30490	G=0.41532	T=0.58468
Allele Frequency Aggregator	European	Sub	24452	G=0.45608	T=0.54392
Allele Frequency Aggregator	African	Sub	3134	G=0.1710	T=0.8290
Allele Frequency Aggregator	Other	Sub	1818	G=0.3762	T=0.6238
Allele Frequency Aggregator	Latin American 2	Sub	682	G=0.292	T=0.708
Allele Frequency Aggregator	Latin American 1	Sub	164	G=0.421	T=0.579
Allele Frequency Aggregator	Asian	Sub	126	G=0.008	T=0.992
Allele Frequency Aggregator	South Asian	Sub	114	G=0.193	T=0.807
1000Genomes_30x	Global	Study-wide	6404	G=0.2300	T=0.7700
1000Genomes_30x	African	Sub	1786	G=0.1327	T=0.8673
1000Genomes_30x	Europe	Sub	1266	G=0.4818	T=0.5182
1000Genomes_30x	South Asian	Sub	1202	G=0.2321	T=0.7679
1000Genomes_30x	East Asian	Sub	1170	G=0.0060	T=0.9940
1000Genomes_30x	American	Sub	980	G=0.347	T=0.653
1000Genomes	Global	Study-wide	5008	G=0.2240	T=0.7760
1000Genomes	African	Sub	1322	G=0.1346	T=0.8654
1000Genomes	East Asian	Sub	1008	G=0.0050	T=0.9950
1000Genomes	Europe	Sub	1006	G=0.4761	T=0.5239
1000Genomes	South Asian	Sub	978	G=0.227	T=0.773
1000Genomes	American	Sub	694	G=0.343	T=0.657
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.4547	T=0.5453
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.4624	T=0.5376
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.4571	T=0.5429
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.0027	A=0.0000, C=0.0000, T=0.9973
Korean Genome Project	KOREAN	Study-wide	1832	G=0.0044	T=0.9956
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.459	T=0.541
Northern Sweden	ACPOP	Study-wide	600	G=0.517	T=0.483
SGDP_PRJ	Global	Study-wide	506	G=0.140	T=0.860
Qatari	Global	Study-wide	216	G=0.380	T=0.620
A Vietnamese Genetic Variation Database	Global	Study-wide	216	G=0.023	T=0.977
Siberian	Global	Study-wide	56	G=0.16	T=0.84
The Danish reference pan genome	Danish	Study-wide	40	G=0.50	T=0.50

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 20	NC_000020.11:g.16263358G>A
GRCh38.p14 chr 20	NC_000020.11:g.16263358G>C
GRCh38.p14 chr 20	NC_000020.11:g.16263358G>T
GRCh37.p13 chr 20	NC_000020.10:g.16244003G>A
GRCh37.p13 chr 20	NC_000020.10:g.16244003G>C
GRCh37.p13 chr 20	NC_000020.10:g.16244003G>T

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	C	T
GRCh38.p14 chr 20	NC_000020.11:g.16263358=	NC_000020.11:g.16263358G>A	NC_000020.11:g.16263358G>C	NC_000020.11:g.16263358G>T
GRCh37.p13 chr 20	NC_000020.10:g.16244003=	NC_000020.10:g.16244003G>A	NC_000020.10:g.16244003G>C	NC_000020.10:g.16244003G>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#.

88 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss2763976	Jan 12, 2001 (92)
2	SC_JCM	ss3947946	Sep 28, 2001 (100)
3	SC_SNP	ss8341247	Apr 21, 2003 (114)
4	CSHL-HAPMAP	ss20128924	Feb 27, 2004 (120)
5	SSAHASNP	ss21777005	Apr 05, 2004 (121)
6	ABI	ss41440466	Mar 14, 2006 (126)
7	HGSV	ss85369976	Dec 14, 2007 (130)
8	BCMHGSC_JDW	ss91652509	Mar 24, 2008 (129)
9	HUMANGENOME_JCVI	ss96218829	Feb 03, 2009 (130)
10	BGI	ss106181187	Feb 03, 2009 (130)
11	1000GENOMES	ss111792098	Jan 25, 2009 (130)
12	1000GENOMES	ss113141074	Jan 25, 2009 (130)
13	ILLUMINA-UK	ss117498794	Feb 14, 2009 (130)
14	ENSEMBL	ss135756147	Dec 01, 2009 (131)
15	ENSEMBL	ss138216975	Dec 01, 2009 (131)
16	GMI	ss156216171	Dec 01, 2009 (131)
17	COMPLETE_GENOMICS	ss167889393	Jul 04, 2010 (132)
18	COMPLETE_GENOMICS	ss169201325	Jul 04, 2010 (132)
19	BUSHMAN	ss203844385	Jul 04, 2010 (132)
20	BCM-HGSC-SUB	ss208641342	Jul 04, 2010 (132)
21	1000GENOMES	ss228280475	Jul 14, 2010 (132)
22	1000GENOMES	ss237781380	Jul 15, 2010 (132)
23	1000GENOMES	ss243963354	Jul 15, 2010 (132)
24	GMI	ss283316944	May 04, 2012 (137)
25	PJP	ss292620576	May 09, 2011 (134)
26	ILLUMINA	ss483459999	May 04, 2012 (137)
27	ILLUMINA	ss484164348	May 04, 2012 (137)
28	ILLUMINA	ss535669765	Sep 08, 2015 (146)
29	TISHKOFF	ss566162875	Apr 25, 2013 (138)
30	SSMP	ss662036748	Apr 25, 2013 (138)
31	ILLUMINA	ss780285613	Sep 08, 2015 (146)
32	ILLUMINA	ss782173368	Sep 08, 2015 (146)
33	ILLUMINA	ss835771988	Sep 08, 2015 (146)
34	EVA-GONL	ss994585610	Aug 21, 2014 (142)
35	JMKIDD_LAB	ss1082108049	Aug 21, 2014 (142)
36	1000GENOMES	ss1364231721	Aug 21, 2014 (142)
37	DDI	ss1429010329	Apr 01, 2015 (144)
38	EVA_GENOME_DK	ss1579455760	Apr 01, 2015 (144)
39	EVA_UK10K_ALSPAC	ss1638504120	Apr 01, 2015 (144)
40	EVA_UK10K_TWINSUK	ss1681498153	Apr 01, 2015 (144)
41	EVA_DECODE	ss1698642605	Apr 01, 2015 (144)
42	HAMMER_LAB	ss1809441466	Sep 08, 2015 (146)
43	WEILL_CORNELL_DGM	ss1938094107	Feb 12, 2016 (147)
44	GENOMED	ss1969102283	Jul 19, 2016 (147)
45	JJLAB	ss2029828806	Sep 14, 2016 (149)
46	USC_VALOUEV	ss2158382562	Dec 20, 2016 (150)
47	HUMAN_LONGEVITY	ss2241677261	Dec 20, 2016 (150)
48	SYSTEMSBIOZJU	ss2629410622	Nov 08, 2017 (151)
49	ILLUMINA	ss2633782669	Nov 08, 2017 (151)
50	GRF	ss2704056769	Nov 08, 2017 (151)
51	GNOMAD	ss2965903659	Nov 08, 2017 (151)
52	SWEGEN	ss3017936103	Nov 08, 2017 (151)
53	BIOINF_KMB_FNS_UNIBA	ss3028747973	Nov 08, 2017 (151)
54	CSHL	ss3352440199	Nov 08, 2017 (151)
55	ILLUMINA	ss3628360851	Oct 12, 2018 (152)
56	ILLUMINA	ss3631740193	Oct 12, 2018 (152)
57	ILLUMINA	ss3642175749	Oct 12, 2018 (152)
58	URBANLAB	ss3650980906	Oct 12, 2018 (152)
59	EGCUT_WGS	ss3684656560	Jul 13, 2019 (153)
60	EVA_DECODE	ss3706642592	Jul 13, 2019 (153)
61	ACPOP	ss3743287232	Jul 13, 2019 (153)
62	EVA	ss3758475566	Jul 13, 2019 (153)
63	PACBIO	ss3788610821	Jul 13, 2019 (153)
64	PACBIO	ss3793509427	Jul 13, 2019 (153)
65	PACBIO	ss3798396596	Jul 13, 2019 (153)
66	KHV_HUMAN_GENOMES	ss3821646951	Jul 13, 2019 (153)
67	EVA	ss3835610566	Apr 27, 2020 (154)
68	EVA	ss3841431057	Apr 27, 2020 (154)
69	EVA	ss3846938975	Apr 27, 2020 (154)
70	SGDP_PRJ	ss3888820027	Apr 27, 2020 (154)
71	KRGDB	ss3939017419	Apr 27, 2020 (154)
72	KOGIC	ss3981900119	Apr 27, 2020 (154)
73	TOPMED	ss5083743671	Apr 27, 2021 (155)
74	TOMMO_GENOMICS	ss5229027684	Apr 27, 2021 (155)
75	TOMMO_GENOMICS	ss5229027685	Apr 27, 2021 (155)
76	1000G_HIGH_COVERAGE	ss5308230415	Oct 13, 2022 (156)
77	EVA	ss5315998510	Oct 13, 2022 (156)
78	EVA	ss5436530832	Oct 13, 2022 (156)
79	HUGCELL_USP	ss5500618136	Oct 13, 2022 (156)
80	1000G_HIGH_COVERAGE	ss5614388221	Oct 13, 2022 (156)
81	SANFORD_IMAGENETICS	ss5662948901	Oct 13, 2022 (156)
82	TOMMO_GENOMICS	ss5788067142	Oct 13, 2022 (156)
83	TOMMO_GENOMICS	ss5788067143	Oct 13, 2022 (156)
84	YY_MCH	ss5817853252	Oct 13, 2022 (156)
85	EVA	ss5845504144	Oct 13, 2022 (156)
86	EVA	ss5853087599	Oct 13, 2022 (156)
87	EVA	ss5922844244	Oct 13, 2022 (156)
88	EVA	ss5957856704	Oct 13, 2022 (156)
89	1000Genomes	NC_000020.10 - 16244003	Oct 12, 2018 (152)
90	1000Genomes_30x	NC_000020.11 - 16263358	Oct 13, 2022 (156)
91	The Avon Longitudinal Study of Parents and Children	NC_000020.10 - 16244003	Oct 12, 2018 (152)
92	Genetic variation in the Estonian population	NC_000020.10 - 16244003	Oct 12, 2018 (152)
93	The Danish reference pan genome	NC_000020.10 - 16244003	Apr 27, 2020 (154)
94	gnomAD - Genomes	NC_000020.11 - 16263358	Apr 27, 2021 (155)
95	Genome of the Netherlands Release 5	NC_000020.10 - 16244003	Apr 27, 2020 (154)
96	KOREAN population from KRGDB	NC_000020.10 - 16244003	Apr 27, 2020 (154)
97	Korean Genome Project	NC_000020.11 - 16263358	Apr 27, 2020 (154)
98	Northern Sweden	NC_000020.10 - 16244003	Jul 13, 2019 (153)
99	Qatari	NC_000020.10 - 16244003	Apr 27, 2020 (154)
100	SGDP_PRJ	NC_000020.10 - 16244003	Apr 27, 2020 (154)
101	Siberian	NC_000020.10 - 16244003	Apr 27, 2020 (154)
102	8.3KJPN Submission ignored due to conflicting rows: Row 86996991 (NC_000020.10:16244002:G:T 16728/16760) Row 86996992 (NC_000020.10:16244002:G:C 1/16760)	-	Apr 27, 2021 (155)
103	8.3KJPN Submission ignored due to conflicting rows: Row 86996991 (NC_000020.10:16244002:G:T 16728/16760) Row 86996992 (NC_000020.10:16244002:G:C 1/16760)	-	Apr 27, 2021 (155)
104	14KJPN Submission ignored due to conflicting rows: Row 121904246 (NC_000020.11:16263357:G:T 28209/28258) Row 121904247 (NC_000020.11:16263357:G:C 1/28258)	-	Oct 13, 2022 (156)
105	14KJPN Submission ignored due to conflicting rows: Row 121904246 (NC_000020.11:16263357:G:T 28209/28258) Row 121904247 (NC_000020.11:16263357:G:C 1/28258)	-	Oct 13, 2022 (156)
106	TopMed	NC_000020.11 - 16263358	Apr 27, 2021 (155)
107	UK 10K study - Twins	NC_000020.10 - 16244003	Oct 12, 2018 (152)
108	A Vietnamese Genetic Variation Database	NC_000020.10 - 16244003	Jul 13, 2019 (153)
109	ALFA	NC_000020.11 - 16263358	Apr 27, 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)
rs57004929	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
46194813, ss3939017419	NC_000020.10:16244002:G:A	NC_000020.11:16263357:G:A	(self)
46194813, ss3939017419, ss5229027685	NC_000020.10:16244002:G:C	NC_000020.11:16263357:G:C	(self)
ss5788067143	NC_000020.11:16263357:G:C	NC_000020.11:16263357:G:C
ss85369976, ss91652509, ss111792098, ss113141074, ss117498794, ss167889393, ss169201325, ss203844385, ss208641342, ss283316944, ss292620576, ss484164348, ss1698642605	NC_000020.9:16192002:G:T	NC_000020.11:16263357:G:T	(self)
77677285, 43005773, 30394808, 5620699, 19162978, 46194813, 16572097, 20136029, 40837007, 10898916, 43005773, 9495555, ss228280475, ss237781380, ss243963354, ss483459999, ss535669765, ss566162875, ss662036748, ss780285613, ss782173368, ss835771988, ss994585610, ss1082108049, ss1364231721, ss1429010329, ss1579455760, ss1638504120, ss1681498153, ss1809441466, ss1938094107, ss1969102283, ss2029828806, ss2158382562, ss2629410622, ss2633782669, ss2704056769, ss2965903659, ss3017936103, ss3352440199, ss3628360851, ss3631740193, ss3642175749, ss3684656560, ss3743287232, ss3758475566, ss3788610821, ss3793509427, ss3798396596, ss3835610566, ss3841431057, ss3888820027, ss3939017419, ss5229027684, ss5315998510, ss5436530832, ss5662948901, ss5845504144, ss5957856704	NC_000020.10:16244002:G:T	NC_000020.11:16263357:G:T	(self)
101914156, 547687141, 38278120, 358852616, 12374060756, ss2241677261, ss3028747973, ss3650980906, ss3706642592, ss3821646951, ss3846938975, ss3981900119, ss5083743671, ss5308230415, ss5500618136, ss5614388221, ss5788067142, ss5817853252, ss5853087599, ss5922844244	NC_000020.11:16263357:G:T	NC_000020.11:16263357:G:T	(self)
ss2763976, ss3947946, ss8341247, ss20128924, ss21777005, ss41440466, ss96218829, ss106181187, ss135756147, ss138216975, ss156216171	NT_011387.8:16184002:G:T	NC_000020.11:16263357:G:T	(self)

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

No publications for rs1884601

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs1884601