Name: rs66716085
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.

rs66716085

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:53785434-53785447 (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(A)₄ / delAA / delA / dupA / du…
del(A)₄ / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄
Variation Type: Indel Insertion and Deletion
Frequency: dupA=0.2119 (1658/7824, ALFA)
delA=0.2445 (780/3190, 1000G)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ASB3 : Intron Variant
GPR75-ASB3 : Intron Variant
ERLEC1 : 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	7824	AAAAAAAAAAAAAA=0.7179	AAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0688, AAAAAAAAAAAAAAA=0.2119, AAAAAAAAAAAAAAAA=0.0014, AAAAAAAAAAAAAAAAA=0.0000	0.674309	0.103175	0.222516	32
European	Sub	6584	AAAAAAAAAAAAAA=0.6654	AAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0817, AAAAAAAAAAAAAAA=0.2512, AAAAAAAAAAAAAAAA=0.0017, AAAAAAAAAAAAAAAAA=0.0000	0.602804	0.125809	0.271387	32
African	Sub	868	AAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	32	AAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	836	AAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	12	AAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	10	AAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Other Asian	Sub	2	AAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	28	AAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	198	AAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	18	AAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	116	AAAAAAAAAAAAAA=0.966	AAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.034, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000	0.948276	0.017241	0.034483	8

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
Allele Frequency Aggregator	Total	Global	7824	(A)₁₄=0.7179	del(A)₄=0.0000, delAA=0.0000, delA=0.0688, dupA=0.2119, dupAA=0.0014, dupAAA=0.0000
Allele Frequency Aggregator	European	Sub	6584	(A)₁₄=0.6654	del(A)₄=0.0000, delAA=0.0000, delA=0.0817, dupA=0.2512, dupAA=0.0017, dupAAA=0.0000
Allele Frequency Aggregator	African	Sub	868	(A)₁₄=1.000	del(A)₄=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	Latin American 2	Sub	198	(A)₁₄=1.000	del(A)₄=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	Other	Sub	116	(A)₁₄=0.966	del(A)₄=0.000, delAA=0.000, delA=0.000, dupA=0.034, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	Latin American 1	Sub	28	(A)₁₄=1.00	del(A)₄=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	South Asian	Sub	18	(A)₁₄=1.00	del(A)₄=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	Asian	Sub	12	(A)₁₄=1.00	del(A)₄=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
1000Genomes	Global	Study-wide	3190	(A)₁₄=0.7555	delA=0.2445
1000Genomes	African	Sub	962	(A)₁₄=0.757	delA=0.243
1000Genomes	Europe	Sub	661	(A)₁₄=0.787	delA=0.213
1000Genomes	East Asian	Sub	577	(A)₁₄=0.709	delA=0.291
1000Genomes	American	Sub	500	(A)₁₄=0.756	delA=0.244
1000Genomes	South Asian	Sub	490	(A)₁₄=0.765	delA=0.235

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 2	NC_000002.12:g.53785444_53785447del
GRCh38.p14 chr 2	NC_000002.12:g.53785446_53785447del
GRCh38.p14 chr 2	NC_000002.12:g.53785447del
GRCh38.p14 chr 2	NC_000002.12:g.53785447dup
GRCh38.p14 chr 2	NC_000002.12:g.53785446_53785447dup
GRCh38.p14 chr 2	NC_000002.12:g.53785445_53785447dup
GRCh38.p14 chr 2	NC_000002.12:g.53785444_53785447dup
GRCh37.p13 chr 2	NC_000002.11:g.54012581_54012584del
GRCh37.p13 chr 2	NC_000002.11:g.54012583_54012584del
GRCh37.p13 chr 2	NC_000002.11:g.54012584del
GRCh37.p13 chr 2	NC_000002.11:g.54012584dup
GRCh37.p13 chr 2	NC_000002.11:g.54012583_54012584dup
GRCh37.p13 chr 2	NC_000002.11:g.54012582_54012584dup
GRCh37.p13 chr 2	NC_000002.11:g.54012581_54012584dup
ERLEC1 RefSeqGene	NG_029742.1:g.3514_3517del
ERLEC1 RefSeqGene	NG_029742.1:g.3516_3517del
ERLEC1 RefSeqGene	NG_029742.1:g.3517del
ERLEC1 RefSeqGene	NG_029742.1:g.3517dup
ERLEC1 RefSeqGene	NG_029742.1:g.3516_3517dup
ERLEC1 RefSeqGene	NG_029742.1:g.3515_3517dup
ERLEC1 RefSeqGene	NG_029742.1:g.3514_3517dup

Gene: GPR75-ASB3, GPR75-ASB3 readthrough (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
GPR75-ASB3 transcript	NM_001164165.2:c.102-1985… NM_001164165.2:c.102-19852_102-19849del	N/A	Intron Variant

Gene: ASB3, ankyrin repeat and SOCS box containing 3 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ASB3 transcript variant 3	NM_001201965.2:c.-24+848_… NM_001201965.2:c.-24+848_-24+851del	N/A	Intron Variant
ASB3 transcript variant 1	NM_016115.5:c.-14+1384_-1… NM_016115.5:c.-14+1384_-14+1387del	N/A	Intron Variant
ASB3 transcript variant 2	NM_145863.3:c.-24+1384_-2… NM_145863.3:c.-24+1384_-24+1387del	N/A	Intron Variant

Gene: ERLEC1, endoplasmic reticulum lectin 1 (plus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
ERLEC1 transcript variant 2	NM_001127397.3:c.	N/A	Upstream Transcript Variant
ERLEC1 transcript variant 3	NM_001127398.3:c.	N/A	Upstream Transcript Variant
ERLEC1 transcript variant 1	NM_015701.5: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	(A)₁₄=	del(A)₄	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄
GRCh38.p14 chr 2	NC_000002.12:g.53785434_53785447=	NC_000002.12:g.53785444_53785447del	NC_000002.12:g.53785446_53785447del	NC_000002.12:g.53785447del	NC_000002.12:g.53785447dup	NC_000002.12:g.53785446_53785447dup	NC_000002.12:g.53785445_53785447dup	NC_000002.12:g.53785444_53785447dup
GRCh37.p13 chr 2	NC_000002.11:g.54012571_54012584=	NC_000002.11:g.54012581_54012584del	NC_000002.11:g.54012583_54012584del	NC_000002.11:g.54012584del	NC_000002.11:g.54012584dup	NC_000002.11:g.54012583_54012584dup	NC_000002.11:g.54012582_54012584dup	NC_000002.11:g.54012581_54012584dup
ERLEC1 RefSeqGene	NG_029742.1:g.3504_3517=	NG_029742.1:g.3514_3517del	NG_029742.1:g.3516_3517del	NG_029742.1:g.3517del	NG_029742.1:g.3517dup	NG_029742.1:g.3516_3517dup	NG_029742.1:g.3515_3517dup	NG_029742.1:g.3514_3517dup
GPR75-ASB3 transcript	NM_001164165.1:c.102-19849=	NM_001164165.1:c.102-19852_102-19849del	NM_001164165.1:c.102-19850_102-19849del	NM_001164165.1:c.102-19849del	NM_001164165.1:c.102-19849dup	NM_001164165.1:c.102-19850_102-19849dup	NM_001164165.1:c.102-19851_102-19849dup	NM_001164165.1:c.102-19852_102-19849dup
GPR75-ASB3 transcript	NM_001164165.2:c.102-19849=	NM_001164165.2:c.102-19852_102-19849del	NM_001164165.2:c.102-19850_102-19849del	NM_001164165.2:c.102-19849del	NM_001164165.2:c.102-19849dup	NM_001164165.2:c.102-19850_102-19849dup	NM_001164165.2:c.102-19851_102-19849dup	NM_001164165.2:c.102-19852_102-19849dup
ASB3 transcript variant 3	NM_001201965.1:c.-24+851=	NM_001201965.1:c.-24+848_-24+851del	NM_001201965.1:c.-24+850_-24+851del	NM_001201965.1:c.-24+851del	NM_001201965.1:c.-24+851dup	NM_001201965.1:c.-24+850_-24+851dup	NM_001201965.1:c.-24+849_-24+851dup	NM_001201965.1:c.-24+848_-24+851dup
ASB3 transcript variant 3	NM_001201965.2:c.-24+851=	NM_001201965.2:c.-24+848_-24+851del	NM_001201965.2:c.-24+850_-24+851del	NM_001201965.2:c.-24+851del	NM_001201965.2:c.-24+851dup	NM_001201965.2:c.-24+850_-24+851dup	NM_001201965.2:c.-24+849_-24+851dup	NM_001201965.2:c.-24+848_-24+851dup
ASB3 transcript variant 1	NM_016115.4:c.-14+1387=	NM_016115.4:c.-14+1384_-14+1387del	NM_016115.4:c.-14+1386_-14+1387del	NM_016115.4:c.-14+1387del	NM_016115.4:c.-14+1387dup	NM_016115.4:c.-14+1386_-14+1387dup	NM_016115.4:c.-14+1385_-14+1387dup	NM_016115.4:c.-14+1384_-14+1387dup
ASB3 transcript variant 1	NM_016115.5:c.-14+1387=	NM_016115.5:c.-14+1384_-14+1387del	NM_016115.5:c.-14+1386_-14+1387del	NM_016115.5:c.-14+1387del	NM_016115.5:c.-14+1387dup	NM_016115.5:c.-14+1386_-14+1387dup	NM_016115.5:c.-14+1385_-14+1387dup	NM_016115.5:c.-14+1384_-14+1387dup
ASB3 transcript variant 2	NM_145863.2:c.-24+1387=	NM_145863.2:c.-24+1384_-24+1387del	NM_145863.2:c.-24+1386_-24+1387del	NM_145863.2:c.-24+1387del	NM_145863.2:c.-24+1387dup	NM_145863.2:c.-24+1386_-24+1387dup	NM_145863.2:c.-24+1385_-24+1387dup	NM_145863.2:c.-24+1384_-24+1387dup
ASB3 transcript variant 2	NM_145863.3:c.-24+1387=	NM_145863.3:c.-24+1384_-24+1387del	NM_145863.3:c.-24+1386_-24+1387del	NM_145863.3:c.-24+1387del	NM_145863.3:c.-24+1387dup	NM_145863.3:c.-24+1386_-24+1387dup	NM_145863.3:c.-24+1385_-24+1387dup	NM_145863.3:c.-24+1384_-24+1387dup
ASB3 transcript variant X1	XM_005264353.1:c.-14+1383=	XM_005264353.1:c.-14+1380_-14+1383del	XM_005264353.1:c.-14+1382_-14+1383del	XM_005264353.1:c.-14+1383del	XM_005264353.1:c.-14+1383dup	XM_005264353.1:c.-14+1382_-14+1383dup	XM_005264353.1:c.-14+1381_-14+1383dup	XM_005264353.1:c.-14+1380_-14+1383dup
ASB3 transcript variant X2	XM_005264354.1:c.-249+1387=	XM_005264354.1:c.-249+1384_-249+1387del	XM_005264354.1:c.-249+1386_-249+1387del	XM_005264354.1:c.-249+1387del	XM_005264354.1:c.-249+1387dup	XM_005264354.1:c.-249+1386_-249+1387dup	XM_005264354.1:c.-249+1385_-249+1387dup	XM_005264354.1:c.-249+1384_-249+1387dup
ASB3 transcript variant X3	XM_005264355.1:c.-249+1383=	XM_005264355.1:c.-249+1380_-249+1383del	XM_005264355.1:c.-249+1382_-249+1383del	XM_005264355.1:c.-249+1383del	XM_005264355.1:c.-249+1383dup	XM_005264355.1:c.-249+1382_-249+1383dup	XM_005264355.1:c.-249+1381_-249+1383dup	XM_005264355.1:c.-249+1380_-249+1383dup
ASB3 transcript variant X4	XM_005264356.1:c.-14+1387=	XM_005264356.1:c.-14+1384_-14+1387del	XM_005264356.1:c.-14+1386_-14+1387del	XM_005264356.1:c.-14+1387del	XM_005264356.1:c.-14+1387dup	XM_005264356.1:c.-14+1386_-14+1387dup	XM_005264356.1:c.-14+1385_-14+1387dup	XM_005264356.1:c.-14+1384_-14+1387dup

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#.

50 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BUSHMAN	ss193540057	Jul 04, 2010 (132)
2	GMI	ss288164503	May 04, 2012 (137)
3	GMI	ss288164505	May 04, 2012 (138)
4	SSMP	ss663314879	Apr 01, 2015 (144)
5	1000GENOMES	ss1368217995	Aug 21, 2014 (142)
6	1000GENOMES	ss1368217996	Aug 21, 2014 (142)
7	HAMMER_LAB	ss1796771428	Sep 08, 2015 (146)
8	SWEGEN	ss2989516055	Nov 08, 2017 (151)
9	BEROUKHIMLAB	ss3644092082	Oct 11, 2018 (152)
10	EVA_DECODE	ss3703905318	Jul 13, 2019 (153)
11	EVA_DECODE	ss3703905319	Jul 13, 2019 (153)
12	EVA_DECODE	ss3703905320	Jul 13, 2019 (153)
13	EVA_DECODE	ss3703905321	Jul 13, 2019 (153)
14	ACPOP	ss3728441426	Jul 13, 2019 (153)
15	ACPOP	ss3728441427	Jul 13, 2019 (153)
16	ACPOP	ss3728441428	Jul 13, 2019 (153)
17	PACBIO	ss3783866317	Jul 13, 2019 (153)
18	PACBIO	ss3789453805	Jul 13, 2019 (153)
19	PACBIO	ss3794326682	Jul 13, 2019 (153)
20	KHV_HUMAN_GENOMES	ss3801143659	Jul 13, 2019 (153)
21	KHV_HUMAN_GENOMES	ss3801143660	Jul 13, 2019 (153)
22	KHV_HUMAN_GENOMES	ss3801143661	Jul 13, 2019 (153)
23	EVA	ss3826987351	Apr 25, 2020 (154)
24	EVA	ss3836902911	Apr 25, 2020 (154)
25	EVA	ss3842318460	Apr 25, 2020 (154)
26	KOGIC	ss3947763803	Apr 25, 2020 (154)
27	KOGIC	ss3947763804	Apr 25, 2020 (154)
28	KOGIC	ss3947763805	Apr 25, 2020 (154)
29	GNOMAD	ss4041370037	Apr 26, 2021 (155)
30	GNOMAD	ss4041370038	Apr 26, 2021 (155)
31	GNOMAD	ss4041370039	Apr 26, 2021 (155)
32	GNOMAD	ss4041370040	Apr 26, 2021 (155)
33	GNOMAD	ss4041370041	Apr 26, 2021 (155)
34	GNOMAD	ss4041370042	Apr 26, 2021 (155)
35	TOMMO_GENOMICS	ss5151388061	Apr 26, 2021 (155)
36	TOMMO_GENOMICS	ss5151388062	Apr 26, 2021 (155)
37	TOMMO_GENOMICS	ss5151388063	Apr 26, 2021 (155)
38	1000G_HIGH_COVERAGE	ss5248083393	Oct 12, 2022 (156)
39	1000G_HIGH_COVERAGE	ss5248083394	Oct 12, 2022 (156)
40	1000G_HIGH_COVERAGE	ss5248083395	Oct 12, 2022 (156)
41	1000G_HIGH_COVERAGE	ss5248083396	Oct 12, 2022 (156)
42	HUGCELL_USP	ss5448287950	Oct 12, 2022 (156)
43	HUGCELL_USP	ss5448287951	Oct 12, 2022 (156)
44	HUGCELL_USP	ss5448287952	Oct 12, 2022 (156)
45	HUGCELL_USP	ss5448287953	Oct 12, 2022 (156)
46	TOMMO_GENOMICS	ss5680017249	Oct 12, 2022 (156)
47	TOMMO_GENOMICS	ss5680017250	Oct 12, 2022 (156)
48	TOMMO_GENOMICS	ss5680017251	Oct 12, 2022 (156)
49	EVA	ss5820107031	Oct 12, 2022 (156)
50	EVA	ss5820107032	Oct 12, 2022 (156)
51	1000Genomes	NC_000002.11 - 54012571	Oct 11, 2018 (152)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 58288935 (NC_000002.12:53785433::A 45054/135982) Row 58288936 (NC_000002.12:53785433::AA 1825/136096) Row 58288937 (NC_000002.12:53785433::AAA 10/136170)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 58288935 (NC_000002.12:53785433::A 45054/135982) Row 58288936 (NC_000002.12:53785433::AA 1825/136096) Row 58288937 (NC_000002.12:53785433::AAA 10/136170)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 58288935 (NC_000002.12:53785433::A 45054/135982) Row 58288936 (NC_000002.12:53785433::AA 1825/136096) Row 58288937 (NC_000002.12:53785433::AAA 10/136170)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 58288935 (NC_000002.12:53785433::A 45054/135982) Row 58288936 (NC_000002.12:53785433::AA 1825/136096) Row 58288937 (NC_000002.12:53785433::AAA 10/136170)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 58288935 (NC_000002.12:53785433::A 45054/135982) Row 58288936 (NC_000002.12:53785433::AA 1825/136096) Row 58288937 (NC_000002.12:53785433::AAA 10/136170)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 58288935 (NC_000002.12:53785433::A 45054/135982) Row 58288936 (NC_000002.12:53785433::AA 1825/136096) Row 58288937 (NC_000002.12:53785433::AAA 10/136170)...	-	Apr 26, 2021 (155)
58	Korean Genome Project Submission ignored due to conflicting rows: Row 4141804 (NC_000002.12:53785434::A 658/1832) Row 4141805 (NC_000002.12:53785433:A: 378/1832) Row 4141806 (NC_000002.12:53785434::AA 17/1832)	-	Apr 25, 2020 (154)
59	Korean Genome Project Submission ignored due to conflicting rows: Row 4141804 (NC_000002.12:53785434::A 658/1832) Row 4141805 (NC_000002.12:53785433:A: 378/1832) Row 4141806 (NC_000002.12:53785434::AA 17/1832)	-	Apr 25, 2020 (154)
60	Korean Genome Project Submission ignored due to conflicting rows: Row 4141804 (NC_000002.12:53785434::A 658/1832) Row 4141805 (NC_000002.12:53785433:A: 378/1832) Row 4141806 (NC_000002.12:53785434::AA 17/1832)	-	Apr 25, 2020 (154)
61	Northern Sweden Submission ignored due to conflicting rows: Row 1726291 (NC_000002.11:54012570::A 215/598) Row 1726292 (NC_000002.11:54012570:A: 61/598) Row 1726293 (NC_000002.11:54012570::AA 1/598)	-	Jul 13, 2019 (153)
62	Northern Sweden Submission ignored due to conflicting rows: Row 1726291 (NC_000002.11:54012570::A 215/598) Row 1726292 (NC_000002.11:54012570:A: 61/598) Row 1726293 (NC_000002.11:54012570::AA 1/598)	-	Jul 13, 2019 (153)
63	Northern Sweden Submission ignored due to conflicting rows: Row 1726291 (NC_000002.11:54012570::A 215/598) Row 1726292 (NC_000002.11:54012570:A: 61/598) Row 1726293 (NC_000002.11:54012570::AA 1/598)	-	Jul 13, 2019 (153)
64	8.3KJPN Submission ignored due to conflicting rows: Row 9357368 (NC_000002.11:54012570::A 5615/16760) Row 9357369 (NC_000002.11:54012570:A: 2429/16760) Row 9357370 (NC_000002.11:54012570::AA 7/16760)	-	Apr 26, 2021 (155)
65	8.3KJPN Submission ignored due to conflicting rows: Row 9357368 (NC_000002.11:54012570::A 5615/16760) Row 9357369 (NC_000002.11:54012570:A: 2429/16760) Row 9357370 (NC_000002.11:54012570::AA 7/16760)	-	Apr 26, 2021 (155)
66	8.3KJPN Submission ignored due to conflicting rows: Row 9357368 (NC_000002.11:54012570::A 5615/16760) Row 9357369 (NC_000002.11:54012570:A: 2429/16760) Row 9357370 (NC_000002.11:54012570::AA 7/16760)	-	Apr 26, 2021 (155)
67	14KJPN Submission ignored due to conflicting rows: Row 13854353 (NC_000002.12:53785433:A: 4133/28258) Row 13854354 (NC_000002.12:53785433::A 9452/28258) Row 13854355 (NC_000002.12:53785433::AA 19/28258)	-	Oct 12, 2022 (156)
68	14KJPN Submission ignored due to conflicting rows: Row 13854353 (NC_000002.12:53785433:A: 4133/28258) Row 13854354 (NC_000002.12:53785433::A 9452/28258) Row 13854355 (NC_000002.12:53785433::AA 19/28258)	-	Oct 12, 2022 (156)
69	14KJPN Submission ignored due to conflicting rows: Row 13854353 (NC_000002.12:53785433:A: 4133/28258) Row 13854354 (NC_000002.12:53785433::A 9452/28258) Row 13854355 (NC_000002.12:53785433::AA 19/28258)	-	Oct 12, 2022 (156)
70	ALFA	NC_000002.12 - 53785434	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)
rs199635792	May 15, 2013 (138)
rs369309083	May 15, 2013 (138)
rs66716086	Feb 26, 2009 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
1203554348	NC_000002.12:53785433:AAAAAAAAAAAA… NC_000002.12:53785433:AAAAAAAAAAAAAA:AAAAAAAAAA	NC_000002.12:53785433:AAAAAAAAAAAA… NC_000002.12:53785433:AAAAAAAAAAAAAA:AAAAAAAAAA	(self)
ss3703905321, ss4041370042, ss5248083396, ss5448287953	NC_000002.12:53785433:AA:	NC_000002.12:53785433:AAAAAAAAAAAA… NC_000002.12:53785433:AAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
1203554348	NC_000002.12:53785433:AAAAAAAAAAAA… NC_000002.12:53785433:AAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000002.12:53785433:AAAAAAAAAAAA… NC_000002.12:53785433:AAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss288164503	NC_000002.10:53866074:A:	NC_000002.12:53785433:AAAAAAAAAAAA… NC_000002.12:53785433:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
8214853, ss1368217995, ss1796771428, ss2989516055, ss3644092082, ss3728441427, ss3826987351, ss5151388062, ss5820107032	NC_000002.11:54012570:A:	NC_000002.12:53785433:AAAAAAAAAAAA… NC_000002.12:53785433:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3801143661, ss3947763804, ss4041370041, ss5248083393, ss5448287950, ss5680017249	NC_000002.12:53785433:A:	NC_000002.12:53785433:AAAAAAAAAAAA… NC_000002.12:53785433:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
1203554348	NC_000002.12:53785433:AAAAAAAAAAAA… NC_000002.12:53785433:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000002.12:53785433:AAAAAAAAAAAA… NC_000002.12:53785433:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3703905320	NC_000002.12:53785434:A:	NC_000002.12:53785433:AAAAAAAAAAAA… NC_000002.12:53785433:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss288164505	NC_000002.10:53866088::A	NC_000002.12:53785433:AAAAAAAAAAAA… NC_000002.12:53785433:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss663314879, ss3728441426, ss3783866317, ss3789453805, ss3794326682, ss5151388061, ss5820107031	NC_000002.11:54012570::A	NC_000002.12:53785433:AAAAAAAAAAAA… NC_000002.12:53785433:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss1368217996, ss3836902911	NC_000002.11:54012571::A	NC_000002.12:53785433:AAAAAAAAAAAA… NC_000002.12:53785433:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3801143659, ss4041370037, ss5248083394, ss5448287951, ss5680017250	NC_000002.12:53785433::A	NC_000002.12:53785433:AAAAAAAAAAAA… NC_000002.12:53785433:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
1203554348	NC_000002.12:53785433:AAAAAAAAAAAA… NC_000002.12:53785433:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000002.12:53785433:AAAAAAAAAAAA… NC_000002.12:53785433:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3801143660, ss3842318460, ss3947763803	NC_000002.12:53785434::A	NC_000002.12:53785433:AAAAAAAAAAAA… NC_000002.12:53785433:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3703905319	NC_000002.12:53785435::A	NC_000002.12:53785433:AAAAAAAAAAAA… NC_000002.12:53785433:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss193540057	NT_022184.16:37639314::A	NC_000002.12:53785433:AAAAAAAAAAAA… NC_000002.12:53785433:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3728441428, ss5151388063	NC_000002.11:54012570::AA	NC_000002.12:53785433:AAAAAAAAAAAA… NC_000002.12:53785433:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4041370038, ss5248083395, ss5448287952, ss5680017251	NC_000002.12:53785433::AA	NC_000002.12:53785433:AAAAAAAAAAAA… NC_000002.12:53785433:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
1203554348	NC_000002.12:53785433:AAAAAAAAAAAA… NC_000002.12:53785433:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000002.12:53785433:AAAAAAAAAAAA… NC_000002.12:53785433:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3947763805	NC_000002.12:53785434::AA	NC_000002.12:53785433:AAAAAAAAAAAA… NC_000002.12:53785433:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3703905318	NC_000002.12:53785435::AA	NC_000002.12:53785433:AAAAAAAAAAAA… NC_000002.12:53785433:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4041370039	NC_000002.12:53785433::AAA	NC_000002.12:53785433:AAAAAAAAAAAA… NC_000002.12:53785433:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
1203554348	NC_000002.12:53785433:AAAAAAAAAAAA… NC_000002.12:53785433:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000002.12:53785433:AAAAAAAAAAAA… NC_000002.12:53785433:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4041370040	NC_000002.12:53785433::AAAA	NC_000002.12:53785433:AAAAAAAAAAAA… NC_000002.12:53785433:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(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 rs66716085

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

rs66716085