Name: rs574634103
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.

rs574634103

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr3:179170067-179170077 (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: del(GC)₅ / del(GC)₄ / del(GC)₃ / d…
del(GC)₅ / del(GC)₄ / del(GC)₃ / delGCGC / delGC / dupGC / dupGCGC
Variation Type: Indel Insertion and Deletion
Frequency: del(GC)₅=0.000128 (34/264690, TOPMED)
delGC=0.03170 (430/13564, ALFA)
delGC=0.2202 (1103/5008, 1000G) (+ 1 more)
delGC=0.15 (6/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: PIK3CA : Intron Variant
LOC124900560 : 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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	13564	CGCGCGCGCGC=0.95164	C=0.00000, CGC=0.00000, CGCGC=0.00000, CGCGCGC=0.00000, CGCGCGCGC=0.03170, CGCGCGCGCGCGC=0.01666, CGCGCGCGCGCGCGC=0.00000	0.939768	0.00244	0.057792	9
European	Sub	11526	CGCGCGCGCGC=0.94309	C=0.00000, CGC=0.00000, CGCGC=0.00000, CGCGCGC=0.00000, CGCGCGCGC=0.03731, CGCGCGCGCGCGC=0.01961, CGCGCGCGCGCGCGC=0.00000	0.928687	0.002889	0.068424	6
African	Sub	1102	CGCGCGCGCGC=1.0000	C=0.0000, CGC=0.0000, CGCGC=0.0000, CGCGCGC=0.0000, CGCGCGCGC=0.0000, CGCGCGCGCGCGC=0.0000, CGCGCGCGCGCGCGC=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	48	CGCGCGCGCGC=1.00	C=0.00, CGC=0.00, CGCGC=0.00, CGCGCGC=0.00, CGCGCGCGC=0.00, CGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGC=0.00	1.0	0.0	0.0	N/A
African American	Sub	1054	CGCGCGCGCGC=1.0000	C=0.0000, CGC=0.0000, CGCGC=0.0000, CGCGCGC=0.0000, CGCGCGCGC=0.0000, CGCGCGCGCGCGC=0.0000, CGCGCGCGCGCGCGC=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	92	CGCGCGCGCGC=1.00	C=0.00, CGC=0.00, CGCGC=0.00, CGCGCGC=0.00, CGCGCGCGC=0.00, CGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGC=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	68	CGCGCGCGCGC=1.00	C=0.00, CGC=0.00, CGCGC=0.00, CGCGCGC=0.00, CGCGCGCGC=0.00, CGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGC=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	24	CGCGCGCGCGC=1.00	C=0.00, CGC=0.00, CGCGC=0.00, CGCGCGC=0.00, CGCGCGCGC=0.00, CGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGC=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	74	CGCGCGCGCGC=1.00	C=0.00, CGC=0.00, CGCGC=0.00, CGCGCGC=0.00, CGCGCGCGC=0.00, CGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGC=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	390	CGCGCGCGCGC=1.000	C=0.000, CGC=0.000, CGCGC=0.000, CGCGCGC=0.000, CGCGCGCGC=0.000, CGCGCGCGCGCGC=0.000, CGCGCGCGCGCGCGC=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	72	CGCGCGCGCGC=1.00	C=0.00, CGC=0.00, CGCGC=0.00, CGCGCGC=0.00, CGCGCGCGC=0.00, CGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGC=0.00	1.0	0.0	0.0	N/A
Other	Sub	308	CGCGCGCGCGC=1.000	C=0.000, CGC=0.000, CGCGC=0.000, CGCGCGC=0.000, CGCGCGCGC=0.000, CGCGCGCGCGCGC=0.000, CGCGCGCGCGCGCGC=0.000	1.0	0.0	0.0	N/A

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	(CG)₅C=0.999872	del(GC)₅=0.000128
Allele Frequency Aggregator	Total	Global	13564	(CG)₅C=0.95164	del(GC)₅=0.00000, del(GC)₄=0.00000, del(GC)₃=0.00000, delGCGC=0.00000, delGC=0.03170, dupGC=0.01666, dupGCGC=0.00000
Allele Frequency Aggregator	European	Sub	11526	(CG)₅C=0.94309	del(GC)₅=0.00000, del(GC)₄=0.00000, del(GC)₃=0.00000, delGCGC=0.00000, delGC=0.03731, dupGC=0.01961, dupGCGC=0.00000
Allele Frequency Aggregator	African	Sub	1102	(CG)₅C=1.0000	del(GC)₅=0.0000, del(GC)₄=0.0000, del(GC)₃=0.0000, delGCGC=0.0000, delGC=0.0000, dupGC=0.0000, dupGCGC=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	390	(CG)₅C=1.000	del(GC)₅=0.000, del(GC)₄=0.000, del(GC)₃=0.000, delGCGC=0.000, delGC=0.000, dupGC=0.000, dupGCGC=0.000
Allele Frequency Aggregator	Other	Sub	308	(CG)₅C=1.000	del(GC)₅=0.000, del(GC)₄=0.000, del(GC)₃=0.000, delGCGC=0.000, delGC=0.000, dupGC=0.000, dupGCGC=0.000
Allele Frequency Aggregator	Asian	Sub	92	(CG)₅C=1.00	del(GC)₅=0.00, del(GC)₄=0.00, del(GC)₃=0.00, delGCGC=0.00, delGC=0.00, dupGC=0.00, dupGCGC=0.00
Allele Frequency Aggregator	Latin American 1	Sub	74	(CG)₅C=1.00	del(GC)₅=0.00, del(GC)₄=0.00, del(GC)₃=0.00, delGCGC=0.00, delGC=0.00, dupGC=0.00, dupGCGC=0.00
Allele Frequency Aggregator	South Asian	Sub	72	(CG)₅C=1.00	del(GC)₅=0.00, del(GC)₄=0.00, del(GC)₃=0.00, delGCGC=0.00, delGC=0.00, dupGC=0.00, dupGCGC=0.00
1000Genomes	Global	Study-wide	5008	(CG)₅C=0.7798	delGC=0.2202
1000Genomes	African	Sub	1322	(CG)₅C=0.5182	delGC=0.4818
1000Genomes	East Asian	Sub	1008	(CG)₅C=0.9097	delGC=0.0903
1000Genomes	Europe	Sub	1006	(CG)₅C=0.8608	delGC=0.1392
1000Genomes	South Asian	Sub	978	(CG)₅C=0.904	delGC=0.096
1000Genomes	American	Sub	694	(CG)₅C=0.797	delGC=0.203
The Danish reference pan genome	Danish	Study-wide	40	(CG)₅C=0.85	delGC=0.15

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 3	NC_000003.12:g.179170068_179170077del
GRCh38.p14 chr 3	NC_000003.12:g.179170068GC[1]
GRCh38.p14 chr 3	NC_000003.12:g.179170068GC[2]
GRCh38.p14 chr 3	NC_000003.12:g.179170068GC[3]
GRCh38.p14 chr 3	NC_000003.12:g.179170068GC[4]
GRCh38.p14 chr 3	NC_000003.12:g.179170068GC[6]
GRCh38.p14 chr 3	NC_000003.12:g.179170068GC[7]
GRCh37.p13 chr 3	NC_000003.11:g.178887856_178887865del
GRCh37.p13 chr 3	NC_000003.11:g.178887856GC[1]
GRCh37.p13 chr 3	NC_000003.11:g.178887856GC[2]
GRCh37.p13 chr 3	NC_000003.11:g.178887856GC[3]
GRCh37.p13 chr 3	NC_000003.11:g.178887856GC[4]
GRCh37.p13 chr 3	NC_000003.11:g.178887856GC[6]
GRCh37.p13 chr 3	NC_000003.11:g.178887856GC[7]
PIK3CA RefSeqGene (LRG_310)	NG_012113.2:g.26546_26555del
PIK3CA RefSeqGene (LRG_310)	NG_012113.2:g.26546GC[1]
PIK3CA RefSeqGene (LRG_310)	NG_012113.2:g.26546GC[2]
PIK3CA RefSeqGene (LRG_310)	NG_012113.2:g.26546GC[3]
PIK3CA RefSeqGene (LRG_310)	NG_012113.2:g.26546GC[4]
PIK3CA RefSeqGene (LRG_310)	NG_012113.2:g.26546GC[6]
PIK3CA RefSeqGene (LRG_310)	NG_012113.2:g.26546GC[7]

Gene: PIK3CA, phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PIK3CA transcript	NM_006218.4:c.-77+21465_-… NM_006218.4:c.-77+21465_-77+21474del	N/A	Intron Variant
PIK3CA transcript variant X1	XM_006713658.5:c.-77+2184… XM_006713658.5:c.-77+21849_-77+21858del	N/A	Intron Variant

Gene: LOC124900560, uncharacterized LOC124900560 (minus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
LOC124900560 transcript	XR_007096309.1:n.	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	(CG)₅C=	del(GC)₅	del(GC)₄	del(GC)₃	delGCGC	delGC	dupGC	dupGCGC
GRCh38.p14 chr 3	NC_000003.12:g.179170067_179170077=	NC_000003.12:g.179170068_179170077del	NC_000003.12:g.179170068GC[1]	NC_000003.12:g.179170068GC[2]	NC_000003.12:g.179170068GC[3]	NC_000003.12:g.179170068GC[4]	NC_000003.12:g.179170068GC[6]	NC_000003.12:g.179170068GC[7]
GRCh37.p13 chr 3	NC_000003.11:g.178887855_178887865=	NC_000003.11:g.178887856_178887865del	NC_000003.11:g.178887856GC[1]	NC_000003.11:g.178887856GC[2]	NC_000003.11:g.178887856GC[3]	NC_000003.11:g.178887856GC[4]	NC_000003.11:g.178887856GC[6]	NC_000003.11:g.178887856GC[7]
PIK3CA RefSeqGene (LRG_310)	NG_012113.2:g.26545_26555=	NG_012113.2:g.26546_26555del	NG_012113.2:g.26546GC[1]	NG_012113.2:g.26546GC[2]	NG_012113.2:g.26546GC[3]	NG_012113.2:g.26546GC[4]	NG_012113.2:g.26546GC[6]	NG_012113.2:g.26546GC[7]
PIK3CA transcript	NM_006218.2:c.-77+21464=	NM_006218.2:c.-77+21465_-77+21474del	NM_006218.2:c.-77+21467_-77+21474del	NM_006218.2:c.-77+21464CG[2]	NM_006218.2:c.-77+21464CG[3]	NM_006218.2:c.-77+21464CG[4]	NM_006218.2:c.-77+21464CG[6]	NM_006218.2:c.-77+21464CG[7]
PIK3CA transcript	NM_006218.4:c.-77+21464=	NM_006218.4:c.-77+21465_-77+21474del	NM_006218.4:c.-77+21467_-77+21474del	NM_006218.4:c.-77+21464CG[2]	NM_006218.4:c.-77+21464CG[3]	NM_006218.4:c.-77+21464CG[4]	NM_006218.4:c.-77+21464CG[6]	NM_006218.4:c.-77+21464CG[7]
PIK3CA transcript variant X1	XM_006713658.5:c.-77+21848=	XM_006713658.5:c.-77+21849_-77+21858del	XM_006713658.5:c.-77+21851_-77+21858del	XM_006713658.5:c.-77+21848CG[2]	XM_006713658.5:c.-77+21848CG[3]	XM_006713658.5:c.-77+21848CG[4]	XM_006713658.5:c.-77+21848CG[6]	XM_006713658.5:c.-77+21848CG[7]

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#.

39 SubSNP, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss83771552	Jan 10, 2018 (151)
2	BCMHGSC_JDW	ss103680853	Oct 12, 2018 (152)
3	1000GENOMES	ss1371419950	Aug 21, 2014 (142)
4	EVA_GENOME_DK	ss1576107558	Apr 01, 2015 (144)
5	EVA_UK10K_ALSPAC	ss1703954253	Apr 01, 2015 (144)
6	EVA_UK10K_TWINSUK	ss1703954446	Apr 01, 2015 (144)
7	EVA_UK10K_TWINSUK	ss1710120497	Apr 01, 2015 (144)
8	EVA_UK10K_ALSPAC	ss1710120506	Apr 01, 2015 (144)
9	HAMMER_LAB	ss1800522397	Sep 08, 2015 (146)
10	SWEGEN	ss2993727391	Nov 08, 2017 (151)
11	MCHAISSO	ss3065921311	Nov 08, 2017 (151)
12	MCHAISSO	ss3065921312	Nov 08, 2017 (151)
13	EVA_DECODE	ss3710929990	Jul 13, 2019 (153)
14	EVA_DECODE	ss3710929991	Jul 13, 2019 (153)
15	EVA_DECODE	ss3710929992	Jul 13, 2019 (153)
16	EVA_DECODE	ss3710929993	Jul 13, 2019 (153)
17	ACPOP	ss3730640419	Jul 13, 2019 (153)
18	ACPOP	ss3730640420	Jul 13, 2019 (153)
19	KHV_HUMAN_GENOMES	ss3804236216	Jul 13, 2019 (153)
20	EVA	ss3828245435	Apr 25, 2020 (154)
21	GNOMAD	ss4086626417	Apr 26, 2021 (155)
22	GNOMAD	ss4086626418	Apr 26, 2021 (155)
23	GNOMAD	ss4086626420	Apr 26, 2021 (155)
24	GNOMAD	ss4086626421	Apr 26, 2021 (155)
25	GNOMAD	ss4086626422	Apr 26, 2021 (155)
26	GNOMAD	ss4086626423	Apr 26, 2021 (155)
27	GNOMAD	ss4086626424	Apr 26, 2021 (155)
28	TOPMED	ss4595216667	Apr 26, 2021 (155)
29	TOMMO_GENOMICS	ss5163081221	Apr 26, 2021 (155)
30	TOMMO_GENOMICS	ss5163081222	Apr 26, 2021 (155)
31	TOMMO_GENOMICS	ss5163081223	Apr 26, 2021 (155)
32	1000G_HIGH_COVERAGE	ss5257187011	Oct 12, 2022 (156)
33	HUGCELL_USP	ss5456215336	Oct 12, 2022 (156)
34	HUGCELL_USP	ss5456215337	Oct 12, 2022 (156)
35	EVA	ss5507327864	Oct 12, 2022 (156)
36	TOMMO_GENOMICS	ss5696386824	Oct 12, 2022 (156)
37	TOMMO_GENOMICS	ss5696386825	Oct 12, 2022 (156)
38	TOMMO_GENOMICS	ss5696386826	Oct 12, 2022 (156)
39	EVA	ss5853981020	Oct 12, 2022 (156)
40	1000Genomes	NC_000003.11 - 178887855	Oct 12, 2018 (152)
41	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 10476008 (NC_000003.11:178887854::CG 722/3854) Row 10476009 (NC_000003.11:178887854:CG: 658/3854)	-	Oct 12, 2018 (152)
42	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 10476008 (NC_000003.11:178887854::CG 722/3854) Row 10476009 (NC_000003.11:178887854:CG: 658/3854)	-	Oct 12, 2018 (152)
43	The Danish reference pan genome	NC_000003.11 - 178887855	Apr 25, 2020 (154)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 133528393 (NC_000003.12:179170066::CG 7564/100556) Row 133528394 (NC_000003.12:179170066::CGCG 20/100594) Row 133528397 (NC_000003.12:179170066:CG: 26184/100342)...	-	Apr 26, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 133528393 (NC_000003.12:179170066::CG 7564/100556) Row 133528394 (NC_000003.12:179170066::CGCG 20/100594) Row 133528397 (NC_000003.12:179170066:CG: 26184/100342)...	-	Apr 26, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 133528393 (NC_000003.12:179170066::CG 7564/100556) Row 133528394 (NC_000003.12:179170066::CGCG 20/100594) Row 133528397 (NC_000003.12:179170066:CG: 26184/100342)...	-	Apr 26, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 133528393 (NC_000003.12:179170066::CG 7564/100556) Row 133528394 (NC_000003.12:179170066::CGCG 20/100594) Row 133528397 (NC_000003.12:179170066:CG: 26184/100342)...	-	Apr 26, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 133528393 (NC_000003.12:179170066::CG 7564/100556) Row 133528394 (NC_000003.12:179170066::CGCG 20/100594) Row 133528397 (NC_000003.12:179170066:CG: 26184/100342)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 133528393 (NC_000003.12:179170066::CG 7564/100556) Row 133528394 (NC_000003.12:179170066::CGCG 20/100594) Row 133528397 (NC_000003.12:179170066:CG: 26184/100342)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 133528393 (NC_000003.12:179170066::CG 7564/100556) Row 133528394 (NC_000003.12:179170066::CGCG 20/100594) Row 133528397 (NC_000003.12:179170066:CG: 26184/100342)...	-	Apr 26, 2021 (155)
51	Northern Sweden Submission ignored due to conflicting rows: Row 3925284 (NC_000003.11:178887854::CG 34/598) Row 3925285 (NC_000003.11:178887854:CG: 58/598)	-	Jul 13, 2019 (153)
52	Northern Sweden Submission ignored due to conflicting rows: Row 3925284 (NC_000003.11:178887854::CG 34/598) Row 3925285 (NC_000003.11:178887854:CG: 58/598)	-	Jul 13, 2019 (153)
53	8.3KJPN Submission ignored due to conflicting rows: Row 21050528 (NC_000003.11:178887854:CG: 1043/16568) Row 21050529 (NC_000003.11:178887854::CG 7/16568) Row 21050530 (NC_000003.11:178887854::CGCG 5/16568)	-	Apr 26, 2021 (155)
54	8.3KJPN Submission ignored due to conflicting rows: Row 21050528 (NC_000003.11:178887854:CG: 1043/16568) Row 21050529 (NC_000003.11:178887854::CG 7/16568) Row 21050530 (NC_000003.11:178887854::CGCG 5/16568)	-	Apr 26, 2021 (155)
55	8.3KJPN Submission ignored due to conflicting rows: Row 21050528 (NC_000003.11:178887854:CG: 1043/16568) Row 21050529 (NC_000003.11:178887854::CG 7/16568) Row 21050530 (NC_000003.11:178887854::CGCG 5/16568)	-	Apr 26, 2021 (155)
56	14KJPN Submission ignored due to conflicting rows: Row 30223928 (NC_000003.12:179170066::CG 10/28258) Row 30223929 (NC_000003.12:179170066:CG: 1685/28258) Row 30223930 (NC_000003.12:179170066::CGCG 3/28258)	-	Oct 12, 2022 (156)
57	14KJPN Submission ignored due to conflicting rows: Row 30223928 (NC_000003.12:179170066::CG 10/28258) Row 30223929 (NC_000003.12:179170066:CG: 1685/28258) Row 30223930 (NC_000003.12:179170066::CGCG 3/28258)	-	Oct 12, 2022 (156)
58	14KJPN Submission ignored due to conflicting rows: Row 30223928 (NC_000003.12:179170066::CG 10/28258) Row 30223929 (NC_000003.12:179170066:CG: 1685/28258) Row 30223930 (NC_000003.12:179170066::CGCG 3/28258)	-	Oct 12, 2022 (156)
59	TopMed	NC_000003.12 - 179170067	Apr 26, 2021 (155)
60	UK 10K study - Twins Submission ignored due to conflicting rows: Row 10476008 (NC_000003.11:178887854::CG 678/3708) Row 10476009 (NC_000003.11:178887854:CG: 636/3708)	-	Oct 12, 2018 (152)
61	UK 10K study - Twins Submission ignored due to conflicting rows: Row 10476008 (NC_000003.11:178887854::CG 678/3708) Row 10476009 (NC_000003.11:178887854:CG: 636/3708)	-	Oct 12, 2018 (152)
62	ALFA	NC_000003.12 - 179170067	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
432594222, ss3710929993, ss4086626424, ss4595216667	NC_000003.12:179170066:CGCGCGCGCG:	NC_000003.12:179170066:CGCGCGCGCGC… NC_000003.12:179170066:CGCGCGCGCGC:C	(self)
6911136753	NC_000003.12:179170066:CGCGCGCGCGC… NC_000003.12:179170066:CGCGCGCGCGC:C	NC_000003.12:179170066:CGCGCGCGCGC… NC_000003.12:179170066:CGCGCGCGCGC:C	(self)
ss4086626423	NC_000003.12:179170066:CGCGCGCG:	NC_000003.12:179170066:CGCGCGCGCGC… NC_000003.12:179170066:CGCGCGCGCGC:CGC	(self)
6911136753	NC_000003.12:179170066:CGCGCGCGCGC… NC_000003.12:179170066:CGCGCGCGCGC:CGC	NC_000003.12:179170066:CGCGCGCGCGC… NC_000003.12:179170066:CGCGCGCGCGC:CGC	(self)
ss4086626422	NC_000003.12:179170066:CGCGCG:	NC_000003.12:179170066:CGCGCGCGCGC… NC_000003.12:179170066:CGCGCGCGCGC:CGCGC	(self)
6911136753	NC_000003.12:179170066:CGCGCGCGCGC… NC_000003.12:179170066:CGCGCGCGCGC:CGCGC	NC_000003.12:179170066:CGCGCGCGCGC… NC_000003.12:179170066:CGCGCGCGCGC:CGCGC	(self)
ss4086626421	NC_000003.12:179170066:CGCG:	NC_000003.12:179170066:CGCGCGCGCGC… NC_000003.12:179170066:CGCGCGCGCGC:CGCGCGC	(self)
6911136753	NC_000003.12:179170066:CGCGCGCGCGC… NC_000003.12:179170066:CGCGCGCGCGC:CGCGCGC	NC_000003.12:179170066:CGCGCGCGCGC… NC_000003.12:179170066:CGCGCGCGCGC:CGCGCGC	(self)
ss83771552	NC_000003.9:180370565:GC:	NC_000003.12:179170066:CGCGCGCGCGC… NC_000003.12:179170066:CGCGCGCGCGC:CGCGCGCGC	(self)
18798505, 877101, ss1371419950, ss1576107558, ss1703954253, ss1703954446, ss1800522397, ss2993727391, ss3730640420, ss3828245435, ss5163081221	NC_000003.11:178887854:CG:	NC_000003.12:179170066:CGCGCGCGCGC… NC_000003.12:179170066:CGCGCGCGCGC:CGCGCGCGC	(self)
ss3065921312, ss3804236216, ss4086626420, ss5257187011, ss5456215336, ss5696386825, ss5853981020	NC_000003.12:179170066:CG:	NC_000003.12:179170066:CGCGCGCGCGC… NC_000003.12:179170066:CGCGCGCGCGC:CGCGCGCGC	(self)
6911136753	NC_000003.12:179170066:CGCGCGCGCGC… NC_000003.12:179170066:CGCGCGCGCGC:CGCGCGCGC	NC_000003.12:179170066:CGCGCGCGCGC… NC_000003.12:179170066:CGCGCGCGCGC:CGCGCGCGC	(self)
ss3710929992	NC_000003.12:179170074:CG:	NC_000003.12:179170066:CGCGCGCGCGC… NC_000003.12:179170066:CGCGCGCGCGC:CGCGCGCGC	(self)
ss103680853	NT_005612.16:85383009:GC:	NC_000003.12:179170066:CGCGCGCGCGC… NC_000003.12:179170066:CGCGCGCGCGC:CGCGCGCGC	(self)
ss3730640419, ss5163081222, ss5507327864	NC_000003.11:178887854::CG	NC_000003.12:179170066:CGCGCGCGCGC… NC_000003.12:179170066:CGCGCGCGCGC:CGCGCGCGCGCGC	(self)
ss1710120497, ss1710120506	NC_000003.11:178887856::CG	NC_000003.12:179170066:CGCGCGCGCGC… NC_000003.12:179170066:CGCGCGCGCGC:CGCGCGCGCGCGC	(self)
ss3065921311, ss4086626417, ss5456215337, ss5696386824	NC_000003.12:179170066::CG	NC_000003.12:179170066:CGCGCGCGCGC… NC_000003.12:179170066:CGCGCGCGCGC:CGCGCGCGCGCGC	(self)
6911136753	NC_000003.12:179170066:CGCGCGCGCGC… NC_000003.12:179170066:CGCGCGCGCGC:CGCGCGCGCGCGC	NC_000003.12:179170066:CGCGCGCGCGC… NC_000003.12:179170066:CGCGCGCGCGC:CGCGCGCGCGCGC	(self)
ss3710929991	NC_000003.12:179170076::CG	NC_000003.12:179170066:CGCGCGCGCGC… NC_000003.12:179170066:CGCGCGCGCGC:CGCGCGCGCGCGC	(self)
ss5163081223	NC_000003.11:178887854::CGCG	NC_000003.12:179170066:CGCGCGCGCGC… NC_000003.12:179170066:CGCGCGCGCGC:CGCGCGCGCGCGCGC	(self)
ss4086626418, ss5696386826	NC_000003.12:179170066::CGCG	NC_000003.12:179170066:CGCGCGCGCGC… NC_000003.12:179170066:CGCGCGCGCGC:CGCGCGCGCGCGCGC	(self)
6911136753	NC_000003.12:179170066:CGCGCGCGCGC… NC_000003.12:179170066:CGCGCGCGCGC:CGCGCGCGCGCGCGC	NC_000003.12:179170066:CGCGCGCGCGC… NC_000003.12:179170066:CGCGCGCGCGC:CGCGCGCGCGCGCGC	(self)
ss3710929990	NC_000003.12:179170076::CGCG	NC_000003.12:179170066:CGCGCGCGCGC… NC_000003.12:179170066:CGCGCGCGCGC:CGCGCGCGCGCGCGC	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss2426005819	NC_000003.11:178887854:CGCGCGCGCG:	NC_000003.12:179170066:CGCGCGCGCGC… NC_000003.12:179170066:CGCGCGCGCGC:C

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

No publications for rs574634103

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
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs574634103