Name: rs434609
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.

rs434609

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr20:256351 (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: C>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: C=0.351679 (93086/264690, TOPMED)
C=0.350789 (49109/139996, GnomAD)
C=0.31131 (8797/28258, 14KJPN) (+ 18 more)
C=0.38583 (9915/25698, ALFA)
C=0.31134 (5218/16760, 8.3KJPN)
C=0.3281 (2101/6404, 1000G_30x)
C=0.3311 (1658/5008, 1000G)
C=0.4185 (1875/4480, Estonian)
C=0.3848 (1483/3854, ALSPAC)
C=0.3816 (1415/3708, TWINSUK)
C=0.3031 (888/2930, KOREAN)
C=0.3177 (601/1892, HapMap)
C=0.2844 (521/1832, Korea1K)
C=0.3972 (448/1128, Daghestan)
C=0.432 (431/998, GoNL)
C=0.367 (220/600, NorthernSweden)
C=0.251 (122/486, SGDP_PRJ)
C=0.398 (86/216, Qatari)
C=0.325 (69/212, Vietnamese)
C=0.31 (15/48, Siberian)
C=0.40 (16/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: DEFB132 : 2KB Upstream Variant
Publications: 0 citations
Genomic View: See rs on genome

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

Release Version: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	25698	C=0.38583	T=0.61417
European	Sub	17398	C=0.40091	T=0.59909
African	Sub	3624	C=0.2414	T=0.7586
African Others	Sub	126	C=0.310	T=0.690
African American	Sub	3498	C=0.2390	T=0.7610
Asian	Sub	160	C=0.306	T=0.694
East Asian	Sub	102	C=0.324	T=0.676
Other Asian	Sub	58	C=0.28	T=0.72
Latin American 1	Sub	292	C=0.291	T=0.709
Latin American 2	Sub	2768	C=0.4870	T=0.5130
South Asian	Sub	110	C=0.373	T=0.627
Other	Sub	1346	C=0.4027	T=0.5973

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	C=0.351679	T=0.648321
gnomAD - Genomes	Global	Study-wide	139996	C=0.350789	T=0.649211
gnomAD - Genomes	European	Sub	75814	C=0.39031	T=0.60969
gnomAD - Genomes	African	Sub	41960	C=0.24261	T=0.75739
gnomAD - Genomes	American	Sub	13624	C=0.44583	T=0.55417
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	C=0.4735	T=0.5265
gnomAD - Genomes	East Asian	Sub	3124	C=0.3057	T=0.6943
gnomAD - Genomes	Other	Sub	2152	C=0.3420	T=0.6580
14KJPN	JAPANESE	Study-wide	28258	C=0.31131	T=0.68869
Allele Frequency Aggregator	Total	Global	25698	C=0.38583	T=0.61417
Allele Frequency Aggregator	European	Sub	17398	C=0.40091	T=0.59909
Allele Frequency Aggregator	African	Sub	3624	C=0.2414	T=0.7586
Allele Frequency Aggregator	Latin American 2	Sub	2768	C=0.4870	T=0.5130
Allele Frequency Aggregator	Other	Sub	1346	C=0.4027	T=0.5973
Allele Frequency Aggregator	Latin American 1	Sub	292	C=0.291	T=0.709
Allele Frequency Aggregator	Asian	Sub	160	C=0.306	T=0.694
Allele Frequency Aggregator	South Asian	Sub	110	C=0.373	T=0.627
8.3KJPN	JAPANESE	Study-wide	16760	C=0.31134	T=0.68866
1000Genomes_30x	Global	Study-wide	6404	C=0.3281	T=0.6719
1000Genomes_30x	African	Sub	1786	C=0.2156	T=0.7844
1000Genomes_30x	Europe	Sub	1266	C=0.3586	T=0.6414
1000Genomes_30x	South Asian	Sub	1202	C=0.3652	T=0.6348
1000Genomes_30x	East Asian	Sub	1170	C=0.3410	T=0.6590
1000Genomes_30x	American	Sub	980	C=0.433	T=0.567
1000Genomes	Global	Study-wide	5008	C=0.3311	T=0.6689
1000Genomes	African	Sub	1322	C=0.2300	T=0.7700
1000Genomes	East Asian	Sub	1008	C=0.3393	T=0.6607
1000Genomes	Europe	Sub	1006	C=0.3569	T=0.6431
1000Genomes	South Asian	Sub	978	C=0.356	T=0.644
1000Genomes	American	Sub	694	C=0.439	T=0.561
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.4185	T=0.5815
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.3848	T=0.6152
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.3816	T=0.6184
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.3031	G=0.0000, T=0.6969
HapMap	Global	Study-wide	1892	C=0.3177	T=0.6823
HapMap	American	Sub	770	C=0.351	T=0.649
HapMap	African	Sub	692	C=0.247	T=0.753
HapMap	Asian	Sub	254	C=0.394	T=0.606
HapMap	Europe	Sub	176	C=0.341	T=0.659
Korean Genome Project	KOREAN	Study-wide	1832	C=0.2844	T=0.7156
Genome-wide autozygosity in Daghestan	Global	Study-wide	1128	C=0.3972	T=0.6028
Genome-wide autozygosity in Daghestan	Daghestan	Sub	622	C=0.402	T=0.598
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	C=0.396	T=0.604
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	C=0.426	T=0.574
Genome-wide autozygosity in Daghestan	Europe	Sub	106	C=0.453	T=0.547
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	C=0.29	T=0.71
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	C=0.36	T=0.64
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.432	T=0.568
Northern Sweden	ACPOP	Study-wide	600	C=0.367	T=0.633
SGDP_PRJ	Global	Study-wide	486	C=0.251	T=0.749
Qatari	Global	Study-wide	216	C=0.398	T=0.602
A Vietnamese Genetic Variation Database	Global	Study-wide	212	C=0.325	T=0.675
Siberian	Global	Study-wide	48	C=0.31	T=0.69
The Danish reference pan genome	Danish	Study-wide	40	C=0.40	T=0.60

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.256351C>G
GRCh38.p14 chr 20	NC_000020.11:g.256351C>T
GRCh37.p13 chr 20	NC_000020.10:g.236992C>G
GRCh37.p13 chr 20	NC_000020.10:g.236992C>T

Gene: DEFB132, defensin beta 132 (plus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
DEFB132 transcript	NM_207469.3:c.	N/A	Upstream 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	C=	G	T
GRCh38.p14 chr 20	NC_000020.11:g.256351=	NC_000020.11:g.256351C>G	NC_000020.11:g.256351C>T
GRCh37.p13 chr 20	NC_000020.10:g.236992=	NC_000020.10:g.236992C>G	NC_000020.10:g.236992C>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#.

86 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss577846	Jul 16, 2000 (80)
2	SC_JCM	ss3391030	Sep 28, 2001 (100)
3	SC_SNP	ss8355420	Apr 21, 2003 (114)
4	SSAHASNP	ss21775466	Apr 05, 2004 (121)
5	PERLEGEN	ss24591518	Sep 20, 2004 (123)
6	ABI	ss41365520	Mar 14, 2006 (126)
7	AFFY	ss66375811	Nov 30, 2006 (127)
8	AFFY	ss76105818	Dec 06, 2007 (129)
9	HGSV	ss81271782	Dec 15, 2007 (130)
10	KRIBB_YJKIM	ss81421428	Dec 14, 2007 (130)
11	BCMHGSC_JDW	ss91612112	Mar 24, 2008 (129)
12	BGI	ss103712491	Dec 01, 2009 (131)
13	1000GENOMES	ss111583246	Jan 25, 2009 (130)
14	1000GENOMES	ss115347781	Jan 25, 2009 (130)
15	ILLUMINA-UK	ss117452609	Feb 14, 2009 (130)
16	ILLUMINA	ss120241357	Dec 01, 2009 (131)
17	ENSEMBL	ss135750546	Dec 01, 2009 (131)
18	ENSEMBL	ss138196988	Dec 01, 2009 (131)
19	GMI	ss156061582	Dec 01, 2009 (131)
20	COMPLETE_GENOMICS	ss167640183	Jul 04, 2010 (132)
21	COMPLETE_GENOMICS	ss168832372	Jul 04, 2010 (132)
22	COMPLETE_GENOMICS	ss171805717	Jul 04, 2010 (132)
23	AFFY	ss172524896	Jul 04, 2010 (132)
24	BUSHMAN	ss203804484	Jul 04, 2010 (132)
25	BCM-HGSC-SUB	ss208583283	Jul 04, 2010 (132)
26	1000GENOMES	ss228211371	Jul 14, 2010 (132)
27	1000GENOMES	ss237730478	Jul 15, 2010 (132)
28	1000GENOMES	ss243923932	Jul 15, 2010 (132)
29	ILLUMINA	ss244260527	Jul 04, 2010 (132)
30	BL	ss255420870	May 09, 2011 (134)
31	GMI	ss283269559	May 04, 2012 (137)
32	GMI	ss287408669	Apr 25, 2013 (138)
33	PJP	ss292559947	May 09, 2011 (134)
34	TISHKOFF	ss566083424	Apr 25, 2013 (138)
35	SSMP	ss661954388	Apr 25, 2013 (138)
36	EVA-GONL	ss994458302	Aug 21, 2014 (142)
37	JMKIDD_LAB	ss1082010587	Aug 21, 2014 (142)
38	1000GENOMES	ss1363770792	Aug 21, 2014 (142)
39	HAMMER_LAB	ss1397760858	Sep 08, 2015 (146)
40	DDI	ss1428971091	Apr 01, 2015 (144)
41	EVA_GENOME_DK	ss1579403208	Apr 01, 2015 (144)
42	EVA_UK10K_ALSPAC	ss1638251845	Apr 01, 2015 (144)
43	EVA_UK10K_TWINSUK	ss1681245878	Apr 01, 2015 (144)
44	EVA_DECODE	ss1698511826	Apr 01, 2015 (144)
45	EVA_SVP	ss1713672473	Apr 01, 2015 (144)
46	HAMMER_LAB	ss1809384386	Sep 08, 2015 (146)
47	WEILL_CORNELL_DGM	ss1937966814	Feb 12, 2016 (147)
48	GENOMED	ss1969071432	Jul 19, 2016 (147)
49	JJLAB	ss2029758197	Sep 14, 2016 (149)
50	USC_VALOUEV	ss2158312653	Dec 20, 2016 (150)
51	HUMAN_LONGEVITY	ss2240723019	Dec 20, 2016 (150)
52	SYSTEMSBIOZJU	ss2629376884	Nov 08, 2017 (151)
53	GRF	ss2703984077	Nov 08, 2017 (151)
54	GNOMAD	ss2964616401	Nov 08, 2017 (151)
55	SWEGEN	ss3017746204	Nov 08, 2017 (151)
56	BIOINF_KMB_FNS_UNIBA	ss3028710829	Nov 08, 2017 (151)
57	CSHL	ss3352380916	Nov 08, 2017 (151)
58	URBANLAB	ss3650953414	Oct 12, 2018 (152)
59	EGCUT_WGS	ss3684458654	Jul 13, 2019 (153)
60	EVA_DECODE	ss3706407825	Jul 13, 2019 (153)
61	ACPOP	ss3743180361	Jul 13, 2019 (153)
62	EVA	ss3758327790	Jul 13, 2019 (153)
63	PACBIO	ss3788577203	Jul 13, 2019 (153)
64	PACBIO	ss3793480696	Jul 13, 2019 (153)
65	PACBIO	ss3798367842	Jul 13, 2019 (153)
66	KHV_HUMAN_GENOMES	ss3821500710	Jul 13, 2019 (153)
67	EVA	ss3835545715	Apr 27, 2020 (154)
68	EVA	ss3841395987	Apr 27, 2020 (154)
69	EVA	ss3846903260	Apr 27, 2020 (154)
70	SGDP_PRJ	ss3888573186	Apr 27, 2020 (154)
71	KRGDB	ss3938750246	Apr 27, 2020 (154)
72	KOGIC	ss3981681039	Apr 27, 2020 (154)
73	TOPMED	ss5079774904	Apr 26, 2021 (155)
74	TOMMO_GENOMICS	ss5228511392	Apr 26, 2021 (155)
75	1000G_HIGH_COVERAGE	ss5307824997	Oct 13, 2022 (156)
76	EVA	ss5435790385	Oct 13, 2022 (156)
77	HUGCELL_USP	ss5500249810	Oct 13, 2022 (156)
78	EVA	ss5512135411	Oct 13, 2022 (156)
79	1000G_HIGH_COVERAGE	ss5613783327	Oct 13, 2022 (156)
80	SANFORD_IMAGENETICS	ss5662713992	Oct 13, 2022 (156)
81	TOMMO_GENOMICS	ss5787404735	Oct 13, 2022 (156)
82	YY_MCH	ss5817749964	Oct 13, 2022 (156)
83	EVA	ss5845339120	Oct 13, 2022 (156)
84	EVA	ss5853034802	Oct 13, 2022 (156)
85	EVA	ss5922376437	Oct 13, 2022 (156)
86	EVA	ss5957609698	Oct 13, 2022 (156)
87	1000Genomes	NC_000020.10 - 236992	Oct 12, 2018 (152)
88	1000Genomes_30x	NC_000020.11 - 256351	Oct 13, 2022 (156)
89	The Avon Longitudinal Study of Parents and Children	NC_000020.10 - 236992	Oct 12, 2018 (152)
90	Genome-wide autozygosity in Daghestan	NC_000020.9 - 184992	Apr 27, 2020 (154)
91	Genetic variation in the Estonian population	NC_000020.10 - 236992	Oct 12, 2018 (152)
92	The Danish reference pan genome	NC_000020.10 - 236992	Apr 27, 2020 (154)
93	gnomAD - Genomes	NC_000020.11 - 256351	Apr 26, 2021 (155)
94	Genome of the Netherlands Release 5	NC_000020.10 - 236992	Apr 27, 2020 (154)
95	HapMap	NC_000020.11 - 256351	Apr 27, 2020 (154)
96	KOREAN population from KRGDB	NC_000020.10 - 236992	Apr 27, 2020 (154)
97	Korean Genome Project	NC_000020.11 - 256351	Apr 27, 2020 (154)
98	Northern Sweden	NC_000020.10 - 236992	Jul 13, 2019 (153)
99	Qatari	NC_000020.10 - 236992	Apr 27, 2020 (154)
100	SGDP_PRJ	NC_000020.10 - 236992	Apr 27, 2020 (154)
101	Siberian	NC_000020.10 - 236992	Apr 27, 2020 (154)
102	8.3KJPN	NC_000020.10 - 236992	Apr 26, 2021 (155)
103	14KJPN	NC_000020.11 - 256351	Oct 13, 2022 (156)
104	TopMed	NC_000020.11 - 256351	Apr 26, 2021 (155)
105	UK 10K study - Twins	NC_000020.10 - 236992	Oct 12, 2018 (152)
106	A Vietnamese Genetic Variation Database	NC_000020.10 - 236992	Jul 13, 2019 (153)
107	ALFA	NC_000020.11 - 256351	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)
rs17687540	Oct 07, 2004 (123)
rs57383545	Feb 26, 2009 (130)
rs58437170	May 24, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
45927640, ss3938750246	NC_000020.10:236991:C:G	NC_000020.11:256350:C:G	(self)
275074, ss66375811, ss76105818, ss81271782, ss91612112, ss111583246, ss115347781, ss117452609, ss167640183, ss168832372, ss171805717, ss172524896, ss203804484, ss208583283, ss255420870, ss283269559, ss287408669, ss292559947, ss1397760858, ss1698511826, ss1713672473	NC_000020.9:184991:C:T	NC_000020.11:256350:C:T	(self)
77200293, 42728463, 30196902, 5568147, 19039082, 45927640, 16465226, 20008736, 40590166, 10829007, 86480699, 42728463, 9433019, ss228211371, ss237730478, ss243923932, ss566083424, ss661954388, ss994458302, ss1082010587, ss1363770792, ss1428971091, ss1579403208, ss1638251845, ss1681245878, ss1809384386, ss1937966814, ss1969071432, ss2029758197, ss2158312653, ss2629376884, ss2703984077, ss2964616401, ss3017746204, ss3352380916, ss3684458654, ss3743180361, ss3758327790, ss3788577203, ss3793480696, ss3798367842, ss3835545715, ss3841395987, ss3888573186, ss3938750246, ss5228511392, ss5435790385, ss5512135411, ss5662713992, ss5845339120, ss5957609698	NC_000020.10:236991:C:T	NC_000020.11:256350:C:T	(self)
101309262, 544414167, 2047936, 38059040, 121241839, 354883849, 785372677, ss2240723019, ss3028710829, ss3650953414, ss3706407825, ss3821500710, ss3846903260, ss3981681039, ss5079774904, ss5307824997, ss5500249810, ss5613783327, ss5787404735, ss5817749964, ss5853034802, ss5922376437	NC_000020.11:256350:C:T	NC_000020.11:256350:C:T	(self)
ss577846, ss3391030, ss8355420, ss21775466, ss24591518, ss41365520, ss81421428, ss103712491, ss120241357, ss135750546, ss138196988, ss156061582, ss244260527	NT_011387.8:176991:C:T	NC_000020.11:256350:C: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 rs434609

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

rs434609