Name: rs60084117
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.

rs60084117

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr3:179170077-179170099 (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(AC)₅ / del(AC)₄ / del(AC)₃ / d…
del(AC)₅ / del(AC)₄ / del(AC)₃ / delACAC / delAC / dupAC / dupACAC / dup(AC)₃ / dup(AC)₄ / dup(AC)₅ / dup(AC)₆ / dup(AC)₇ / dup(AC)₈
Variation Type: Indel Insertion and Deletion
Frequency: dup(AC)₇=0.000008 (2/264690, TOPMED)
dupACAC=0.2573 (1907/7413, ALFA)

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	7413	CACACACACACACACACACACAC=0.6892	CACACACACACAC=0.0000, CACACACACACACAC=0.0000, CACACACACACACACAC=0.0000, CACACACACACACACACAC=0.0000, CACACACACACACACACACAC=0.0000, CACACACACACACACACACACACAC=0.0405, CACACACACACACACACACACACACAC=0.2573, CACACACACACACACACACACACACACAC=0.0131, CACACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACACACACACAC=0.0000	0.735462	0.13042	0.134118	32
European	Sub	5402	CACACACACACACACACACACAC=0.5744	CACACACACACAC=0.0000, CACACACACACACAC=0.0000, CACACACACACACACAC=0.0000, CACACACACACACACACAC=0.0000, CACACACACACACACACACAC=0.0000, CACACACACACACACACACACACAC=0.0553, CACACACACACACACACACACACACAC=0.3523, CACACACACACACACACACACACACACAC=0.0180, CACACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACACACACACAC=0.0000	0.601523	0.195939	0.202538	32
African	Sub	1594	CACACACACACACACACACACAC=1.0000	CACACACACACAC=0.0000, CACACACACACACAC=0.0000, CACACACACACACACAC=0.0000, CACACACACACACACACAC=0.0000, CACACACACACACACACACAC=0.0000, CACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACACACACACAC=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	52	CACACACACACACACACACACAC=1.00	CACACACACACAC=0.00, CACACACACACACAC=0.00, CACACACACACACACAC=0.00, CACACACACACACACACAC=0.00, CACACACACACACACACACAC=0.00, CACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACAC=0.00	1.0	0.0	0.0	N/A
African American	Sub	1542	CACACACACACACACACACACAC=1.0000	CACACACACACAC=0.0000, CACACACACACACAC=0.0000, CACACACACACACACAC=0.0000, CACACACACACACACACAC=0.0000, CACACACACACACACACACAC=0.0000, CACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACACACACAC=0.0000, CACACACACACACACACACACACACACACACACACACAC=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	14	CACACACACACACACACACACAC=1.00	CACACACACACAC=0.00, CACACACACACACAC=0.00, CACACACACACACACAC=0.00, CACACACACACACACACAC=0.00, CACACACACACACACACACAC=0.00, CACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACAC=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	12	CACACACACACACACACACACAC=1.00	CACACACACACAC=0.00, CACACACACACACAC=0.00, CACACACACACACACAC=0.00, CACACACACACACACACAC=0.00, CACACACACACACACACACAC=0.00, CACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACAC=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	2	CACACACACACACACACACACAC=1.0	CACACACACACAC=0.0, CACACACACACACAC=0.0, CACACACACACACACAC=0.0, CACACACACACACACACAC=0.0, CACACACACACACACACACAC=0.0, CACACACACACACACACACACACAC=0.0, CACACACACACACACACACACACACAC=0.0, CACACACACACACACACACACACACACAC=0.0, CACACACACACACACACACACACACACACAC=0.0, CACACACACACACACACACACACACACACACAC=0.0, CACACACACACACACACACACACACACACACACAC=0.0, CACACACACACACACACACACACACACACACACACAC=0.0, CACACACACACACACACACACACACACACACACACACAC=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	56	CACACACACACACACACACACAC=1.00	CACACACACACAC=0.00, CACACACACACACAC=0.00, CACACACACACACACAC=0.00, CACACACACACACACACAC=0.00, CACACACACACACACACACAC=0.00, CACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACAC=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	160	CACACACACACACACACACACAC=1.000	CACACACACACAC=0.000, CACACACACACACAC=0.000, CACACACACACACACAC=0.000, CACACACACACACACACAC=0.000, CACACACACACACACACACAC=0.000, CACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACACACACACACAC=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	20	CACACACACACACACACACACAC=1.00	CACACACACACAC=0.00, CACACACACACACAC=0.00, CACACACACACACACAC=0.00, CACACACACACACACACAC=0.00, CACACACACACACACACACAC=0.00, CACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACAC=0.00, CACACACACACACACACACACACACACACACACACACAC=0.00	1.0	0.0	0.0	N/A
Other	Sub	167	CACACACACACACACACACACAC=0.970	CACACACACACAC=0.000, CACACACACACACAC=0.000, CACACACACACACACAC=0.000, CACACACACACACACACAC=0.000, CACACACACACACACACACAC=0.000, CACACACACACACACACACACACAC=0.006, CACACACACACACACACACACACACAC=0.024, CACACACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACACACACACAC=0.000, CACACACACACACACACACACACACACACACACACACAC=0.000	0.975904	0.024096	0.0	32

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	- No frequency provided	dup(AC)₇=0.000008
Allele Frequency Aggregator	Total	Global	7413	(CA)₁₁C=0.6892	del(AC)₅=0.0000, del(AC)₄=0.0000, del(AC)₃=0.0000, delACAC=0.0000, delAC=0.0000, dupAC=0.0405, dupACAC=0.2573, dup(AC)₃=0.0131, dup(AC)₄=0.0000, dup(AC)₅=0.0000, dup(AC)₆=0.0000, dup(AC)₇=0.0000, dup(AC)₈=0.0000
Allele Frequency Aggregator	European	Sub	5402	(CA)₁₁C=0.5744	del(AC)₅=0.0000, del(AC)₄=0.0000, del(AC)₃=0.0000, delACAC=0.0000, delAC=0.0000, dupAC=0.0553, dupACAC=0.3523, dup(AC)₃=0.0180, dup(AC)₄=0.0000, dup(AC)₅=0.0000, dup(AC)₆=0.0000, dup(AC)₇=0.0000, dup(AC)₈=0.0000
Allele Frequency Aggregator	African	Sub	1594	(CA)₁₁C=1.0000	del(AC)₅=0.0000, del(AC)₄=0.0000, del(AC)₃=0.0000, delACAC=0.0000, delAC=0.0000, dupAC=0.0000, dupACAC=0.0000, dup(AC)₃=0.0000, dup(AC)₄=0.0000, dup(AC)₅=0.0000, dup(AC)₆=0.0000, dup(AC)₇=0.0000, dup(AC)₈=0.0000
Allele Frequency Aggregator	Other	Sub	167	(CA)₁₁C=0.970	del(AC)₅=0.000, del(AC)₄=0.000, del(AC)₃=0.000, delACAC=0.000, delAC=0.000, dupAC=0.006, dupACAC=0.024, dup(AC)₃=0.000, dup(AC)₄=0.000, dup(AC)₅=0.000, dup(AC)₆=0.000, dup(AC)₇=0.000, dup(AC)₈=0.000
Allele Frequency Aggregator	Latin American 2	Sub	160	(CA)₁₁C=1.000	del(AC)₅=0.000, del(AC)₄=0.000, del(AC)₃=0.000, delACAC=0.000, delAC=0.000, dupAC=0.000, dupACAC=0.000, dup(AC)₃=0.000, dup(AC)₄=0.000, dup(AC)₅=0.000, dup(AC)₆=0.000, dup(AC)₇=0.000, dup(AC)₈=0.000
Allele Frequency Aggregator	Latin American 1	Sub	56	(CA)₁₁C=1.00	del(AC)₅=0.00, del(AC)₄=0.00, del(AC)₃=0.00, delACAC=0.00, delAC=0.00, dupAC=0.00, dupACAC=0.00, dup(AC)₃=0.00, dup(AC)₄=0.00, dup(AC)₅=0.00, dup(AC)₆=0.00, dup(AC)₇=0.00, dup(AC)₈=0.00
Allele Frequency Aggregator	South Asian	Sub	20	(CA)₁₁C=1.00	del(AC)₅=0.00, del(AC)₄=0.00, del(AC)₃=0.00, delACAC=0.00, delAC=0.00, dupAC=0.00, dupACAC=0.00, dup(AC)₃=0.00, dup(AC)₄=0.00, dup(AC)₅=0.00, dup(AC)₆=0.00, dup(AC)₇=0.00, dup(AC)₈=0.00
Allele Frequency Aggregator	Asian	Sub	14	(CA)₁₁C=1.00	del(AC)₅=0.00, del(AC)₄=0.00, del(AC)₃=0.00, delACAC=0.00, delAC=0.00, dupAC=0.00, dupACAC=0.00, dup(AC)₃=0.00, dup(AC)₄=0.00, dup(AC)₅=0.00, dup(AC)₆=0.00, dup(AC)₇=0.00, dup(AC)₈=0.00

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.179170078AC[6]
GRCh38.p14 chr 3	NC_000003.12:g.179170078AC[7]
GRCh38.p14 chr 3	NC_000003.12:g.179170078AC[8]
GRCh38.p14 chr 3	NC_000003.12:g.179170078AC[9]
GRCh38.p14 chr 3	NC_000003.12:g.179170078AC[10]
GRCh38.p14 chr 3	NC_000003.12:g.179170078AC[12]
GRCh38.p14 chr 3	NC_000003.12:g.179170078AC[13]
GRCh38.p14 chr 3	NC_000003.12:g.179170078AC[14]
GRCh38.p14 chr 3	NC_000003.12:g.179170078AC[15]
GRCh38.p14 chr 3	NC_000003.12:g.179170078AC[16]
GRCh38.p14 chr 3	NC_000003.12:g.179170078AC[17]
GRCh38.p14 chr 3	NC_000003.12:g.179170078AC[18]
GRCh38.p14 chr 3	NC_000003.12:g.179170078AC[19]
GRCh37.p13 chr 3	NC_000003.11:g.178887866AC[6]
GRCh37.p13 chr 3	NC_000003.11:g.178887866AC[7]
GRCh37.p13 chr 3	NC_000003.11:g.178887866AC[8]
GRCh37.p13 chr 3	NC_000003.11:g.178887866AC[9]
GRCh37.p13 chr 3	NC_000003.11:g.178887866AC[10]
GRCh37.p13 chr 3	NC_000003.11:g.178887866AC[12]
GRCh37.p13 chr 3	NC_000003.11:g.178887866AC[13]
GRCh37.p13 chr 3	NC_000003.11:g.178887866AC[14]
GRCh37.p13 chr 3	NC_000003.11:g.178887866AC[15]
GRCh37.p13 chr 3	NC_000003.11:g.178887866AC[16]
GRCh37.p13 chr 3	NC_000003.11:g.178887866AC[17]
GRCh37.p13 chr 3	NC_000003.11:g.178887866AC[18]
GRCh37.p13 chr 3	NC_000003.11:g.178887866AC[19]
PIK3CA RefSeqGene (LRG_310)	NG_012113.2:g.26556AC[6]
PIK3CA RefSeqGene (LRG_310)	NG_012113.2:g.26556AC[7]
PIK3CA RefSeqGene (LRG_310)	NG_012113.2:g.26556AC[8]
PIK3CA RefSeqGene (LRG_310)	NG_012113.2:g.26556AC[9]
PIK3CA RefSeqGene (LRG_310)	NG_012113.2:g.26556AC[10]
PIK3CA RefSeqGene (LRG_310)	NG_012113.2:g.26556AC[12]
PIK3CA RefSeqGene (LRG_310)	NG_012113.2:g.26556AC[13]
PIK3CA RefSeqGene (LRG_310)	NG_012113.2:g.26556AC[14]
PIK3CA RefSeqGene (LRG_310)	NG_012113.2:g.26556AC[15]
PIK3CA RefSeqGene (LRG_310)	NG_012113.2:g.26556AC[16]
PIK3CA RefSeqGene (LRG_310)	NG_012113.2:g.26556AC[17]
PIK3CA RefSeqGene (LRG_310)	NG_012113.2:g.26556AC[18]
PIK3CA RefSeqGene (LRG_310)	NG_012113.2:g.26556AC[19]

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+21474CA… NM_006218.4:c.-77+21474CA[6]	N/A	Intron Variant
PIK3CA transcript variant X1	XM_006713658.5:c.-77+2185… XM_006713658.5:c.-77+21858CA[6]	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	(CA)₁₁C=	del(AC)₅	del(AC)₄	del(AC)₃	delACAC	delAC	dupAC	dupACAC	dup(AC)₃	dup(AC)₄	dup(AC)₅	dup(AC)₆	dup(AC)₇	dup(AC)₈
GRCh38.p14 chr 3	NC_000003.12:g.179170077_179170099=	NC_000003.12:g.179170078AC[6]	NC_000003.12:g.179170078AC[7]	NC_000003.12:g.179170078AC[8]	NC_000003.12:g.179170078AC[9]	NC_000003.12:g.179170078AC[10]	NC_000003.12:g.179170078AC[12]	NC_000003.12:g.179170078AC[13]	NC_000003.12:g.179170078AC[14]	NC_000003.12:g.179170078AC[15]	NC_000003.12:g.179170078AC[16]	NC_000003.12:g.179170078AC[17]	NC_000003.12:g.179170078AC[18]	NC_000003.12:g.179170078AC[19]
GRCh37.p13 chr 3	NC_000003.11:g.178887865_178887887=	NC_000003.11:g.178887866AC[6]	NC_000003.11:g.178887866AC[7]	NC_000003.11:g.178887866AC[8]	NC_000003.11:g.178887866AC[9]	NC_000003.11:g.178887866AC[10]	NC_000003.11:g.178887866AC[12]	NC_000003.11:g.178887866AC[13]	NC_000003.11:g.178887866AC[14]	NC_000003.11:g.178887866AC[15]	NC_000003.11:g.178887866AC[16]	NC_000003.11:g.178887866AC[17]	NC_000003.11:g.178887866AC[18]	NC_000003.11:g.178887866AC[19]
PIK3CA RefSeqGene (LRG_310)	NG_012113.2:g.26555_26577=	NG_012113.2:g.26556AC[6]	NG_012113.2:g.26556AC[7]	NG_012113.2:g.26556AC[8]	NG_012113.2:g.26556AC[9]	NG_012113.2:g.26556AC[10]	NG_012113.2:g.26556AC[12]	NG_012113.2:g.26556AC[13]	NG_012113.2:g.26556AC[14]	NG_012113.2:g.26556AC[15]	NG_012113.2:g.26556AC[16]	NG_012113.2:g.26556AC[17]	NG_012113.2:g.26556AC[18]	NG_012113.2:g.26556AC[19]
PIK3CA transcript	NM_006218.2:c.-77+21474=	NM_006218.2:c.-77+21474CA[6]	NM_006218.2:c.-77+21474CA[7]	NM_006218.2:c.-77+21474CA[8]	NM_006218.2:c.-77+21474CA[9]	NM_006218.2:c.-77+21474CA[10]	NM_006218.2:c.-77+21474CA[12]	NM_006218.2:c.-77+21474CA[13]	NM_006218.2:c.-77+21474CA[14]	NM_006218.2:c.-77+21474CA[15]	NM_006218.2:c.-77+21474CA[16]	NM_006218.2:c.-77+21474CA[17]	NM_006218.2:c.-77+21474CA[18]	NM_006218.2:c.-77+21474CA[19]
PIK3CA transcript	NM_006218.4:c.-77+21474=	NM_006218.4:c.-77+21474CA[6]	NM_006218.4:c.-77+21474CA[7]	NM_006218.4:c.-77+21474CA[8]	NM_006218.4:c.-77+21474CA[9]	NM_006218.4:c.-77+21474CA[10]	NM_006218.4:c.-77+21474CA[12]	NM_006218.4:c.-77+21474CA[13]	NM_006218.4:c.-77+21474CA[14]	NM_006218.4:c.-77+21474CA[15]	NM_006218.4:c.-77+21474CA[16]	NM_006218.4:c.-77+21474CA[17]	NM_006218.4:c.-77+21474CA[18]	NM_006218.4:c.-77+21474CA[19]
PIK3CA transcript variant X1	XM_006713658.5:c.-77+21858=	XM_006713658.5:c.-77+21858CA[6]	XM_006713658.5:c.-77+21858CA[7]	XM_006713658.5:c.-77+21858CA[8]	XM_006713658.5:c.-77+21858CA[9]	XM_006713658.5:c.-77+21858CA[10]	XM_006713658.5:c.-77+21858CA[12]	XM_006713658.5:c.-77+21858CA[13]	XM_006713658.5:c.-77+21858CA[14]	XM_006713658.5:c.-77+21858CA[15]	XM_006713658.5:c.-77+21858CA[16]	XM_006713658.5:c.-77+21858CA[17]	XM_006713658.5:c.-77+21858CA[18]	XM_006713658.5:c.-77+21858CA[19]

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#.

49 SubSNP, 27 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss77988604	Oct 12, 2018 (152)
2	HUMANGENOME_JCVI	ss95340029	Oct 12, 2018 (152)
3	GMI	ss288456036	Oct 12, 2018 (152)
4	1000GENOMES	ss326461505	Aug 21, 2014 (144)
5	1000GENOMES	ss326488091	Aug 21, 2014 (144)
6	LUNTER	ss551312938	Aug 21, 2014 (144)
7	LUNTER	ss553085676	Aug 21, 2014 (144)
8	BILGI_BIOE	ss666238256	Aug 21, 2014 (144)
9	DDI	ss1536385722	Apr 01, 2015 (144)
10	GENOMED	ss1969603009	Jul 19, 2016 (147)
11	SYSTEMSBIOZJU	ss2625470614	Jan 10, 2018 (151)
12	EVA_DECODE	ss3710929997	Jul 13, 2019 (153)
13	PACBIO	ss3784550964	Jul 13, 2019 (153)
14	PACBIO	ss3790030636	Jul 13, 2019 (153)
15	PACBIO	ss3794905327	Jul 13, 2019 (153)
16	KOGIC	ss3953041569	Apr 25, 2020 (154)
17	KOGIC	ss3953041570	Apr 25, 2020 (154)
18	KOGIC	ss3953041571	Apr 25, 2020 (154)
19	KOGIC	ss3953041574	Apr 25, 2020 (154)
20	GNOMAD	ss4086626463	Apr 26, 2021 (155)
21	GNOMAD	ss4086626465	Apr 26, 2021 (155)
22	GNOMAD	ss4086626466	Apr 26, 2021 (155)
23	GNOMAD	ss4086626467	Apr 26, 2021 (155)
24	GNOMAD	ss4086626468	Apr 26, 2021 (155)
25	GNOMAD	ss4086626469	Apr 26, 2021 (155)
26	GNOMAD	ss4086626470	Apr 26, 2021 (155)
27	GNOMAD	ss4086626471	Apr 26, 2021 (155)
28	GNOMAD	ss4086626485	Apr 26, 2021 (155)
29	GNOMAD	ss4086626486	Apr 26, 2021 (155)
30	GNOMAD	ss4086626487	Apr 26, 2021 (155)
31	GNOMAD	ss4086626488	Apr 26, 2021 (155)
32	GNOMAD	ss4086626489	Apr 26, 2021 (155)
33	TOPMED	ss4595216676	Apr 26, 2021 (155)
34	TOMMO_GENOMICS	ss5163081236	Apr 26, 2021 (155)
35	TOMMO_GENOMICS	ss5163081237	Apr 26, 2021 (155)
36	TOMMO_GENOMICS	ss5163081238	Apr 26, 2021 (155)
37	TOMMO_GENOMICS	ss5163081239	Apr 26, 2021 (155)
38	1000G_HIGH_COVERAGE	ss5257187019	Oct 12, 2022 (156)
39	1000G_HIGH_COVERAGE	ss5257187021	Oct 12, 2022 (156)
40	1000G_HIGH_COVERAGE	ss5257187022	Oct 12, 2022 (156)
41	HUGCELL_USP	ss5456215354	Oct 12, 2022 (156)
42	HUGCELL_USP	ss5456215355	Oct 12, 2022 (156)
43	HUGCELL_USP	ss5456215357	Oct 12, 2022 (156)
44	TOMMO_GENOMICS	ss5696386841	Oct 12, 2022 (156)
45	TOMMO_GENOMICS	ss5696386842	Oct 12, 2022 (156)
46	TOMMO_GENOMICS	ss5696386843	Oct 12, 2022 (156)
47	TOMMO_GENOMICS	ss5696386846	Oct 12, 2022 (156)
48	EVA	ss5826929390	Oct 12, 2022 (156)
49	EVA	ss5826929392	Oct 12, 2022 (156)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 133528443 (NC_000003.12:179170076::CA 8437/127498) Row 133528445 (NC_000003.12:179170076::CACA 43484/127534) Row 133528446 (NC_000003.12:179170076::CACACA 4320/127648)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 133528443 (NC_000003.12:179170076::CA 8437/127498) Row 133528445 (NC_000003.12:179170076::CACA 43484/127534) Row 133528446 (NC_000003.12:179170076::CACACA 4320/127648)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 133528443 (NC_000003.12:179170076::CA 8437/127498) Row 133528445 (NC_000003.12:179170076::CACA 43484/127534) Row 133528446 (NC_000003.12:179170076::CACACA 4320/127648)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 133528443 (NC_000003.12:179170076::CA 8437/127498) Row 133528445 (NC_000003.12:179170076::CACA 43484/127534) Row 133528446 (NC_000003.12:179170076::CACACA 4320/127648)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 133528443 (NC_000003.12:179170076::CA 8437/127498) Row 133528445 (NC_000003.12:179170076::CACA 43484/127534) Row 133528446 (NC_000003.12:179170076::CACACA 4320/127648)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 133528443 (NC_000003.12:179170076::CA 8437/127498) Row 133528445 (NC_000003.12:179170076::CACA 43484/127534) Row 133528446 (NC_000003.12:179170076::CACACA 4320/127648)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 133528443 (NC_000003.12:179170076::CA 8437/127498) Row 133528445 (NC_000003.12:179170076::CACA 43484/127534) Row 133528446 (NC_000003.12:179170076::CACACA 4320/127648)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 133528443 (NC_000003.12:179170076::CA 8437/127498) Row 133528445 (NC_000003.12:179170076::CACA 43484/127534) Row 133528446 (NC_000003.12:179170076::CACACA 4320/127648)...	-	Apr 26, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 133528443 (NC_000003.12:179170076::CA 8437/127498) Row 133528445 (NC_000003.12:179170076::CACA 43484/127534) Row 133528446 (NC_000003.12:179170076::CACACA 4320/127648)...	-	Apr 26, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 133528443 (NC_000003.12:179170076::CA 8437/127498) Row 133528445 (NC_000003.12:179170076::CACA 43484/127534) Row 133528446 (NC_000003.12:179170076::CACACA 4320/127648)...	-	Apr 26, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 133528443 (NC_000003.12:179170076::CA 8437/127498) Row 133528445 (NC_000003.12:179170076::CACA 43484/127534) Row 133528446 (NC_000003.12:179170076::CACACA 4320/127648)...	-	Apr 26, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 133528443 (NC_000003.12:179170076::CA 8437/127498) Row 133528445 (NC_000003.12:179170076::CACA 43484/127534) Row 133528446 (NC_000003.12:179170076::CACACA 4320/127648)...	-	Apr 26, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 133528443 (NC_000003.12:179170076::CA 8437/127498) Row 133528445 (NC_000003.12:179170076::CACA 43484/127534) Row 133528446 (NC_000003.12:179170076::CACACA 4320/127648)...	-	Apr 26, 2021 (155)
63	Korean Genome Project Submission ignored due to conflicting rows: Row 9419570 (NC_000003.12:179170076::CACA 1032/1832) Row 9419571 (NC_000003.12:179170076::CACACA 186/1832) Row 9419572 (NC_000003.12:179170076::CA 97/1832)...	-	Apr 25, 2020 (154)
64	Korean Genome Project Submission ignored due to conflicting rows: Row 9419570 (NC_000003.12:179170076::CACA 1032/1832) Row 9419571 (NC_000003.12:179170076::CACACA 186/1832) Row 9419572 (NC_000003.12:179170076::CA 97/1832)...	-	Apr 25, 2020 (154)
65	Korean Genome Project Submission ignored due to conflicting rows: Row 9419570 (NC_000003.12:179170076::CACA 1032/1832) Row 9419571 (NC_000003.12:179170076::CACACA 186/1832) Row 9419572 (NC_000003.12:179170076::CA 97/1832)...	-	Apr 25, 2020 (154)
66	Korean Genome Project Submission ignored due to conflicting rows: Row 9419570 (NC_000003.12:179170076::CACA 1032/1832) Row 9419571 (NC_000003.12:179170076::CACACA 186/1832) Row 9419572 (NC_000003.12:179170076::CA 97/1832)...	-	Apr 25, 2020 (154)
67	8.3KJPN Submission ignored due to conflicting rows: Row 21050543 (NC_000003.11:178887864::CACA 10369/16760) Row 21050544 (NC_000003.11:178887864::CACACA 1851/16760) Row 21050545 (NC_000003.11:178887864::CACACACA 513/16760)...	-	Apr 26, 2021 (155)
68	8.3KJPN Submission ignored due to conflicting rows: Row 21050543 (NC_000003.11:178887864::CACA 10369/16760) Row 21050544 (NC_000003.11:178887864::CACACA 1851/16760) Row 21050545 (NC_000003.11:178887864::CACACACA 513/16760)...	-	Apr 26, 2021 (155)
69	8.3KJPN Submission ignored due to conflicting rows: Row 21050543 (NC_000003.11:178887864::CACA 10369/16760) Row 21050544 (NC_000003.11:178887864::CACACA 1851/16760) Row 21050545 (NC_000003.11:178887864::CACACACA 513/16760)...	-	Apr 26, 2021 (155)
70	8.3KJPN Submission ignored due to conflicting rows: Row 21050543 (NC_000003.11:178887864::CACA 10369/16760) Row 21050544 (NC_000003.11:178887864::CACACA 1851/16760) Row 21050545 (NC_000003.11:178887864::CACACACA 513/16760)...	-	Apr 26, 2021 (155)
71	14KJPN Submission ignored due to conflicting rows: Row 30223945 (NC_000003.12:179170076::CACA 17635/28258) Row 30223946 (NC_000003.12:179170076::CACACA 3162/28258) Row 30223947 (NC_000003.12:179170076::CA 757/28258)...	-	Oct 12, 2022 (156)
72	14KJPN Submission ignored due to conflicting rows: Row 30223945 (NC_000003.12:179170076::CACA 17635/28258) Row 30223946 (NC_000003.12:179170076::CACACA 3162/28258) Row 30223947 (NC_000003.12:179170076::CA 757/28258)...	-	Oct 12, 2022 (156)
73	14KJPN Submission ignored due to conflicting rows: Row 30223945 (NC_000003.12:179170076::CACA 17635/28258) Row 30223946 (NC_000003.12:179170076::CACACA 3162/28258) Row 30223947 (NC_000003.12:179170076::CA 757/28258)...	-	Oct 12, 2022 (156)
74	14KJPN Submission ignored due to conflicting rows: Row 30223945 (NC_000003.12:179170076::CACA 17635/28258) Row 30223946 (NC_000003.12:179170076::CACACA 3162/28258) Row 30223947 (NC_000003.12:179170076::CA 757/28258)...	-	Oct 12, 2022 (156)
75	TopMed	NC_000003.12 - 179170077	Apr 26, 2021 (155)
76	ALFA	NC_000003.12 - 179170077	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)
rs150153518	May 04, 2012 (137)
rs369999876	May 13, 2013 (138)
rs562589708	Apr 01, 2015 (144)
rs796944335	Nov 08, 2017 (151)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4086626489	NC_000003.12:179170076:CACACACACA:	NC_000003.12:179170076:CACACACACAC… NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACAC	(self)
1852838194	NC_000003.12:179170076:CACACACACAC… NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACAC	NC_000003.12:179170076:CACACACACAC… NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACAC	(self)
ss4086626488	NC_000003.12:179170076:CACACACA:	NC_000003.12:179170076:CACACACACAC… NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACAC	(self)
1852838194	NC_000003.12:179170076:CACACACACAC… NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACAC	NC_000003.12:179170076:CACACACACAC… NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACAC	(self)
ss4086626487	NC_000003.12:179170076:CACACA:	NC_000003.12:179170076:CACACACACAC… NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACAC	(self)
1852838194	NC_000003.12:179170076:CACACACACAC… NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACAC	NC_000003.12:179170076:CACACACACAC… NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACAC	(self)
ss4086626486	NC_000003.12:179170076:CACA:	NC_000003.12:179170076:CACACACACAC… NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACACAC	(self)
1852838194	NC_000003.12:179170076:CACACACACAC… NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACACAC	NC_000003.12:179170076:CACACACACAC… NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACACAC	(self)
ss4086626485	NC_000003.12:179170076:CA:	NC_000003.12:179170076:CACACACACAC… NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACACACAC	(self)
1852838194	NC_000003.12:179170076:CACACACACAC… NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACACACAC	NC_000003.12:179170076:CACACACACAC… NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACACACAC	(self)
ss288456036	NC_000003.10:180370581::AC	NC_000003.12:179170076:CACACACACAC… NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACACACACACAC	(self)
ss5163081239, ss5826929392	NC_000003.11:178887864::CA	NC_000003.12:179170076:CACACACACAC… NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACACACACACAC	(self)
ss3953041571, ss4086626463, ss5257187021, ss5456215357, ss5696386843	NC_000003.12:179170076::CA	NC_000003.12:179170076:CACACACACAC… NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACACACACACAC	(self)
1852838194	NC_000003.12:179170076:CACACACACAC… NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACACACACACAC	NC_000003.12:179170076:CACACACACAC… NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACACACACACAC	(self)
ss326461505, ss326488091, ss551312938, ss553085676	NC_000003.10:180370558::CACA	NC_000003.12:179170076:CACACACACAC… NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACACACACACACAC	(self)
ss288456036	NC_000003.10:180370581::ACAC	NC_000003.12:179170076:CACACACACAC… NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACACACACACACAC	(self)
ss666238256, ss1536385722, ss1969603009, ss2625470614, ss3784550964, ss3790030636, ss3794905327, ss5163081236, ss5826929390	NC_000003.11:178887864::CACA	NC_000003.12:179170076:CACACACACAC… NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACACACACACACAC	(self)
ss3953041569, ss4086626465, ss5257187019, ss5456215354, ss5696386841	NC_000003.12:179170076::CACA	NC_000003.12:179170076:CACACACACAC… NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACACACACACACAC	(self)
1852838194	NC_000003.12:179170076:CACACACACAC… NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACACACACACACAC	NC_000003.12:179170076:CACACACACAC… NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACACACACACACAC	(self)
ss3710929997	NC_000003.12:179170082::CACA	NC_000003.12:179170076:CACACACACAC… NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACACACACACACAC	(self)
ss77988604, ss95340029	NT_005612.16:85383033::ACAC	NC_000003.12:179170076:CACACACACAC… NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACACACACACACAC	(self)
ss5163081237	NC_000003.11:178887864::CACACA	NC_000003.12:179170076:CACACACACAC… NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACACACACACACACAC	(self)
ss3953041570, ss4086626466, ss5257187022, ss5456215355, ss5696386842	NC_000003.12:179170076::CACACA	NC_000003.12:179170076:CACACACACAC… NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACACACACACACACAC	(self)
1852838194	NC_000003.12:179170076:CACACACACAC… NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACACACACACACACAC	NC_000003.12:179170076:CACACACACAC… NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACACACACACACACAC	(self)
ss5163081238	NC_000003.11:178887864::CACACACA	NC_000003.12:179170076:CACACACACAC… NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACACACACACACACACAC	(self)
ss3953041574, ss4086626467, ss5696386846	NC_000003.12:179170076::CACACACA	NC_000003.12:179170076:CACACACACAC… NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACACACACACACACACAC	(self)
1852838194	NC_000003.12:179170076:CACACACACAC… NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACACACACACACACACAC	NC_000003.12:179170076:CACACACACAC… NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACACACACACACACACAC	(self)
ss4086626468	NC_000003.12:179170076::CACACACACA	NC_000003.12:179170076:CACACACACAC… NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACACACACACACACACACAC	(self)
1852838194	NC_000003.12:179170076:CACACACACAC… NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACACACACACACACACACAC	NC_000003.12:179170076:CACACACACAC… NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACACACACACACACACACAC	(self)
ss4086626469	NC_000003.12:179170076::CACACACACA… NC_000003.12:179170076::CACACACACACA	NC_000003.12:179170076:CACACACACAC… NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACAC	(self)
1852838194	NC_000003.12:179170076:CACACACACAC… NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACAC	NC_000003.12:179170076:CACACACACAC… NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACAC	(self)
432594231, ss4086626470, ss4595216676	NC_000003.12:179170076::CACACACACA… NC_000003.12:179170076::CACACACACACACA	NC_000003.12:179170076:CACACACACAC… NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACAC	(self)
1852838194	NC_000003.12:179170076:CACACACACAC… NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACAC	NC_000003.12:179170076:CACACACACAC… NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACAC	(self)
ss4086626471	NC_000003.12:179170076::CACACACACA… NC_000003.12:179170076::CACACACACACACACA	NC_000003.12:179170076:CACACACACAC… NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACAC	(self)
1852838194	NC_000003.12:179170076:CACACACACAC… NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACAC	NC_000003.12:179170076:CACACACACAC… NC_000003.12:179170076:CACACACACACACACACACACAC:CACACACACACACACACACACACACACACACACACACAC	(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 rs60084117

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

rs60084117