Name: rs78652701
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.

rs78652701

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr9:114635350-114635361 (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: delAAA / delAA / delA / dupA / dup…
delAAA / delAA / delA / dupA / dupAA
Variation Type: Indel Insertion and Deletion
Frequency: delAA=0.278567 (73734/264690, TOPMED)
delAA=0.06999 (735/10502, ALFA)
delA=0.0645 (323/5008, 1000G) (+ 2 more)
delAA=0.2213 (853/3854, ALSPAC)
delAA=0.2149 (797/3708, TWINSUK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: TMEM268 : Intron 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	10502	AAAAAAAAAAAA=0.92697	AAAAAAAAA=0.00000, AAAAAAAAAA=0.06999, AAAAAAAAAAA=0.00248, AAAAAAAAAAAAA=0.00057	0.872605	0.012452	0.114943	32
European	Sub	8904	AAAAAAAAAAAA=0.9143	AAAAAAAAA=0.0000, AAAAAAAAAA=0.0821, AAAAAAAAAAA=0.0029, AAAAAAAAAAAAA=0.0007	0.850486	0.014703	0.134811	26
African	Sub	972	AAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	52	AAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	920	AAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	54	AAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	40	AAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	14	AAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	56	AAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	264	AAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	28	AAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	224	AAAAAAAAAAAA=0.982	AAAAAAAAA=0.000, AAAAAAAAAA=0.018, AAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000	0.964286	0.0	0.035714	0

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	(A)₁₂=0.721433	delAA=0.278567
Allele Frequency Aggregator	Total	Global	10502	(A)₁₂=0.92697	delAAA=0.00000, delAA=0.06999, delA=0.00248, dupA=0.00057
Allele Frequency Aggregator	European	Sub	8904	(A)₁₂=0.9143	delAAA=0.0000, delAA=0.0821, delA=0.0029, dupA=0.0007
Allele Frequency Aggregator	African	Sub	972	(A)₁₂=1.000	delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000
Allele Frequency Aggregator	Latin American 2	Sub	264	(A)₁₂=1.000	delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000
Allele Frequency Aggregator	Other	Sub	224	(A)₁₂=0.982	delAAA=0.000, delAA=0.018, delA=0.000, dupA=0.000
Allele Frequency Aggregator	Latin American 1	Sub	56	(A)₁₂=1.00	delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00
Allele Frequency Aggregator	Asian	Sub	54	(A)₁₂=1.00	delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00
Allele Frequency Aggregator	South Asian	Sub	28	(A)₁₂=1.00	delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00
1000Genomes	Global	Study-wide	5008	(A)₁₂=0.9355	delA=0.0645
1000Genomes	African	Sub	1322	(A)₁₂=0.8956	delA=0.1044
1000Genomes	East Asian	Sub	1008	(A)₁₂=0.9296	delA=0.0704
1000Genomes	Europe	Sub	1006	(A)₁₂=0.9742	delA=0.0258
1000Genomes	South Asian	Sub	978	(A)₁₂=0.929	delA=0.071
1000Genomes	American	Sub	694	(A)₁₂=0.973	delA=0.027
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	(A)₁₂=0.7787	delAA=0.2213
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	(A)₁₂=0.7851	delAA=0.2149

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 9	NC_000009.12:g.114635359_114635361del
GRCh38.p14 chr 9	NC_000009.12:g.114635360_114635361del
GRCh38.p14 chr 9	NC_000009.12:g.114635361del
GRCh38.p14 chr 9	NC_000009.12:g.114635361dup
GRCh38.p14 chr 9	NC_000009.12:g.114635360_114635361dup
GRCh37.p13 chr 9	NC_000009.11:g.117397639_117397641del
GRCh37.p13 chr 9	NC_000009.11:g.117397640_117397641del
GRCh37.p13 chr 9	NC_000009.11:g.117397641del
GRCh37.p13 chr 9	NC_000009.11:g.117397641dup
GRCh37.p13 chr 9	NC_000009.11:g.117397640_117397641dup

Gene: TMEM268, transmembrane protein 268 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TMEM268 transcript variant 2	NM_001330760.2:c.588+1481… NM_001330760.2:c.588+1481_588+1483del	N/A	Intron Variant
TMEM268 transcript variant 1	NM_153045.4:c.585+1481_58… NM_153045.4:c.585+1481_585+1483del	N/A	Intron Variant
TMEM268 transcript variant X1	XM_011518350.2:c.786+1481… XM_011518350.2:c.786+1481_786+1483del	N/A	Intron Variant
TMEM268 transcript variant X3	XM_011518351.3:c.786+1481… XM_011518351.3:c.786+1481_786+1483del	N/A	Intron Variant
TMEM268 transcript variant X4	XM_011518352.2:c.783+1481… XM_011518352.2:c.783+1481_783+1483del	N/A	Intron Variant
TMEM268 transcript variant X6	XM_011518353.2:c.676-1631… XM_011518353.2:c.676-1631_676-1629del	N/A	Intron Variant
TMEM268 transcript variant X12	XM_011518354.2:c.525+1481… XM_011518354.2:c.525+1481_525+1483del	N/A	Intron Variant
TMEM268 transcript variant X13	XM_011518355.2:c.522+1481… XM_011518355.2:c.522+1481_522+1483del	N/A	Intron Variant
TMEM268 transcript variant X17	XM_017014430.2:c.412-1631… XM_017014430.2:c.412-1631_412-1629del	N/A	Intron Variant
TMEM268 transcript variant X11	XM_024447441.1:c.585+1481… XM_024447441.1:c.585+1481_585+1483del	N/A	Intron Variant
TMEM268 transcript variant X7	XM_047422923.1:c.673-1631… XM_047422923.1:c.673-1631_673-1629del	N/A	Intron Variant
TMEM268 transcript variant X8	XM_047422924.1:c.588+1481… XM_047422924.1:c.588+1481_588+1483del	N/A	Intron Variant
TMEM268 transcript variant X9	XM_047422925.1:c.585+1481… XM_047422925.1:c.585+1481_585+1483del	N/A	Intron Variant
TMEM268 transcript variant X14	XM_047422927.1:c.478-1631… XM_047422927.1:c.478-1631_478-1629del	N/A	Intron Variant
TMEM268 transcript variant X15	XM_047422928.1:c.475-1631… XM_047422928.1:c.475-1631_475-1629del	N/A	Intron Variant
TMEM268 transcript variant X16	XM_047422929.1:c.415-1631… XM_047422929.1:c.415-1631_415-1629del	N/A	Intron Variant
TMEM268 transcript variant X2	XR_001746225.2:n.	N/A	Intron Variant
TMEM268 transcript variant X10	XR_001746226.2:n.	N/A	Intron Variant
TMEM268 transcript variant X5	XR_007061260.1:n.	N/A	Intron 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)₁₂=	delAAA	delAA	delA	dupA	dupAA
GRCh38.p14 chr 9	NC_000009.12:g.114635350_114635361=	NC_000009.12:g.114635359_114635361del	NC_000009.12:g.114635360_114635361del	NC_000009.12:g.114635361del	NC_000009.12:g.114635361dup	NC_000009.12:g.114635360_114635361dup
GRCh37.p13 chr 9	NC_000009.11:g.117397630_117397641=	NC_000009.11:g.117397639_117397641del	NC_000009.11:g.117397640_117397641del	NC_000009.11:g.117397641del	NC_000009.11:g.117397641dup	NC_000009.11:g.117397640_117397641dup
TMEM268 transcript variant 2	NM_001330760.2:c.588+1472=	NM_001330760.2:c.588+1481_588+1483del	NM_001330760.2:c.588+1482_588+1483del	NM_001330760.2:c.588+1483del	NM_001330760.2:c.588+1483dup	NM_001330760.2:c.588+1482_588+1483dup
TMEM268 transcript variant 1	NM_153045.3:c.585+1472=	NM_153045.3:c.585+1481_585+1483del	NM_153045.3:c.585+1482_585+1483del	NM_153045.3:c.585+1483del	NM_153045.3:c.585+1483dup	NM_153045.3:c.585+1482_585+1483dup
TMEM268 transcript variant 1	NM_153045.4:c.585+1472=	NM_153045.4:c.585+1481_585+1483del	NM_153045.4:c.585+1482_585+1483del	NM_153045.4:c.585+1483del	NM_153045.4:c.585+1483dup	NM_153045.4:c.585+1482_585+1483dup
C9orf91 transcript variant X1	XM_005251789.1:c.666+1472=	XM_005251789.1:c.666+1481_666+1483del	XM_005251789.1:c.666+1482_666+1483del	XM_005251789.1:c.666+1483del	XM_005251789.1:c.666+1483dup	XM_005251789.1:c.666+1482_666+1483dup
C9orf91 transcript variant X2	XM_005251790.1:c.663+1472=	XM_005251790.1:c.663+1481_663+1483del	XM_005251790.1:c.663+1482_663+1483del	XM_005251790.1:c.663+1483del	XM_005251790.1:c.663+1483dup	XM_005251790.1:c.663+1482_663+1483dup
C9orf91 transcript variant X3	XM_005251791.1:c.556-1640=	XM_005251791.1:c.556-1631_556-1629del	XM_005251791.1:c.556-1630_556-1629del	XM_005251791.1:c.556-1629del	XM_005251791.1:c.556-1629dup	XM_005251791.1:c.556-1630_556-1629dup
C9orf91 transcript variant X4	XM_005251792.1:c.522+1472=	XM_005251792.1:c.522+1481_522+1483del	XM_005251792.1:c.522+1482_522+1483del	XM_005251792.1:c.522+1483del	XM_005251792.1:c.522+1483dup	XM_005251792.1:c.522+1482_522+1483dup
TMEM268 transcript variant X1	XM_011518350.2:c.786+1472=	XM_011518350.2:c.786+1481_786+1483del	XM_011518350.2:c.786+1482_786+1483del	XM_011518350.2:c.786+1483del	XM_011518350.2:c.786+1483dup	XM_011518350.2:c.786+1482_786+1483dup
TMEM268 transcript variant X3	XM_011518351.3:c.786+1472=	XM_011518351.3:c.786+1481_786+1483del	XM_011518351.3:c.786+1482_786+1483del	XM_011518351.3:c.786+1483del	XM_011518351.3:c.786+1483dup	XM_011518351.3:c.786+1482_786+1483dup
TMEM268 transcript variant X4	XM_011518352.2:c.783+1472=	XM_011518352.2:c.783+1481_783+1483del	XM_011518352.2:c.783+1482_783+1483del	XM_011518352.2:c.783+1483del	XM_011518352.2:c.783+1483dup	XM_011518352.2:c.783+1482_783+1483dup
TMEM268 transcript variant X6	XM_011518353.2:c.676-1640=	XM_011518353.2:c.676-1631_676-1629del	XM_011518353.2:c.676-1630_676-1629del	XM_011518353.2:c.676-1629del	XM_011518353.2:c.676-1629dup	XM_011518353.2:c.676-1630_676-1629dup
TMEM268 transcript variant X12	XM_011518354.2:c.525+1472=	XM_011518354.2:c.525+1481_525+1483del	XM_011518354.2:c.525+1482_525+1483del	XM_011518354.2:c.525+1483del	XM_011518354.2:c.525+1483dup	XM_011518354.2:c.525+1482_525+1483dup
TMEM268 transcript variant X13	XM_011518355.2:c.522+1472=	XM_011518355.2:c.522+1481_522+1483del	XM_011518355.2:c.522+1482_522+1483del	XM_011518355.2:c.522+1483del	XM_011518355.2:c.522+1483dup	XM_011518355.2:c.522+1482_522+1483dup
TMEM268 transcript variant X17	XM_017014430.2:c.412-1640=	XM_017014430.2:c.412-1631_412-1629del	XM_017014430.2:c.412-1630_412-1629del	XM_017014430.2:c.412-1629del	XM_017014430.2:c.412-1629dup	XM_017014430.2:c.412-1630_412-1629dup
TMEM268 transcript variant X11	XM_024447441.1:c.585+1472=	XM_024447441.1:c.585+1481_585+1483del	XM_024447441.1:c.585+1482_585+1483del	XM_024447441.1:c.585+1483del	XM_024447441.1:c.585+1483dup	XM_024447441.1:c.585+1482_585+1483dup
TMEM268 transcript variant X7	XM_047422923.1:c.673-1640=	XM_047422923.1:c.673-1631_673-1629del	XM_047422923.1:c.673-1630_673-1629del	XM_047422923.1:c.673-1629del	XM_047422923.1:c.673-1629dup	XM_047422923.1:c.673-1630_673-1629dup
TMEM268 transcript variant X8	XM_047422924.1:c.588+1472=	XM_047422924.1:c.588+1481_588+1483del	XM_047422924.1:c.588+1482_588+1483del	XM_047422924.1:c.588+1483del	XM_047422924.1:c.588+1483dup	XM_047422924.1:c.588+1482_588+1483dup
TMEM268 transcript variant X9	XM_047422925.1:c.585+1472=	XM_047422925.1:c.585+1481_585+1483del	XM_047422925.1:c.585+1482_585+1483del	XM_047422925.1:c.585+1483del	XM_047422925.1:c.585+1483dup	XM_047422925.1:c.585+1482_585+1483dup
TMEM268 transcript variant X14	XM_047422927.1:c.478-1640=	XM_047422927.1:c.478-1631_478-1629del	XM_047422927.1:c.478-1630_478-1629del	XM_047422927.1:c.478-1629del	XM_047422927.1:c.478-1629dup	XM_047422927.1:c.478-1630_478-1629dup
TMEM268 transcript variant X15	XM_047422928.1:c.475-1640=	XM_047422928.1:c.475-1631_475-1629del	XM_047422928.1:c.475-1630_475-1629del	XM_047422928.1:c.475-1629del	XM_047422928.1:c.475-1629dup	XM_047422928.1:c.475-1630_475-1629dup
TMEM268 transcript variant X16	XM_047422929.1:c.415-1640=	XM_047422929.1:c.415-1631_415-1629del	XM_047422929.1:c.415-1630_415-1629del	XM_047422929.1:c.415-1629del	XM_047422929.1:c.415-1629dup	XM_047422929.1:c.415-1630_415-1629dup

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#.

54 SubSNP, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCMHGSC_JDW	ss103787680	Dec 01, 2009 (131)
2	BUSHMAN	ss194038735	Mar 15, 2016 (147)
3	GMI	ss288981254	May 04, 2012 (137)
4	PJP	ss295436206	Aug 21, 2014 (142)
5	SSMP	ss663894316	Apr 01, 2015 (144)
6	BILGI_BIOE	ss666481282	Apr 25, 2013 (138)
7	1000GENOMES	ss1368687707	Aug 21, 2014 (142)
8	DDI	ss1536632377	Apr 01, 2015 (144)
9	EVA_UK10K_ALSPAC	ss1706535325	Apr 01, 2015 (144)
10	EVA_UK10K_TWINSUK	ss1706535517	Apr 01, 2015 (144)
11	HAMMER_LAB	ss1806134892	Sep 08, 2015 (146)
12	SYSTEMSBIOZJU	ss2627385769	Nov 08, 2017 (151)
13	SWEGEN	ss3005491226	Nov 08, 2017 (151)
14	MCHAISSO	ss3064350259	Nov 08, 2017 (151)
15	MCHAISSO	ss3065242938	Nov 08, 2017 (151)
16	BIOINF_KMB_FNS_UNIBA	ss3646168645	Oct 12, 2018 (152)
17	EVA_DECODE	ss3724629126	Jul 13, 2019 (153)
18	EVA_DECODE	ss3724629127	Jul 13, 2019 (153)
19	EVA_DECODE	ss3724629128	Jul 13, 2019 (153)
20	ACPOP	ss3736823890	Jul 13, 2019 (153)
21	ACPOP	ss3736823891	Jul 13, 2019 (153)
22	ACPOP	ss3736823892	Jul 13, 2019 (153)
23	PACBIO	ss3786506555	Jul 13, 2019 (153)
24	PACBIO	ss3786506556	Jul 13, 2019 (153)
25	PACBIO	ss3791708448	Jul 13, 2019 (153)
26	PACBIO	ss3796589950	Jul 13, 2019 (153)
27	PACBIO	ss3796589951	Jul 13, 2019 (153)
28	KHV_HUMAN_GENOMES	ss3812780414	Jul 13, 2019 (153)
29	KHV_HUMAN_GENOMES	ss3812780415	Jul 13, 2019 (153)
30	EVA	ss3831829796	Apr 26, 2020 (154)
31	KOGIC	ss3966618552	Apr 26, 2020 (154)
32	KOGIC	ss3966618553	Apr 26, 2020 (154)
33	KOGIC	ss3966618554	Apr 26, 2020 (154)
34	GNOMAD	ss4208334501	Apr 26, 2021 (155)
35	GNOMAD	ss4208334502	Apr 26, 2021 (155)
36	GNOMAD	ss4208334503	Apr 26, 2021 (155)
37	GNOMAD	ss4208334504	Apr 26, 2021 (155)
38	GNOMAD	ss4208334505	Apr 26, 2021 (155)
39	TOPMED	ss4833424906	Apr 26, 2021 (155)
40	TOMMO_GENOMICS	ss5195011626	Apr 26, 2021 (155)
41	TOMMO_GENOMICS	ss5195011627	Apr 26, 2021 (155)
42	TOMMO_GENOMICS	ss5195011628	Apr 26, 2021 (155)
43	1000G_HIGH_COVERAGE	ss5281964072	Oct 16, 2022 (156)
44	1000G_HIGH_COVERAGE	ss5281964073	Oct 16, 2022 (156)
45	1000G_HIGH_COVERAGE	ss5281964074	Oct 16, 2022 (156)
46	HUGCELL_USP	ss5477852291	Oct 16, 2022 (156)
47	HUGCELL_USP	ss5477852292	Oct 16, 2022 (156)
48	HUGCELL_USP	ss5477852293	Oct 16, 2022 (156)
49	TOMMO_GENOMICS	ss5739456428	Oct 16, 2022 (156)
50	TOMMO_GENOMICS	ss5739456429	Oct 16, 2022 (156)
51	TOMMO_GENOMICS	ss5739456430	Oct 16, 2022 (156)
52	EVA	ss5829664461	Oct 16, 2022 (156)
53	EVA	ss5917774381	Oct 16, 2022 (156)
54	EVA	ss5977347620	Oct 16, 2022 (156)
55	1000Genomes	NC_000009.11 - 117397630	Oct 12, 2018 (152)
56	The Avon Longitudinal Study of Parents and Children	NC_000009.11 - 117397630	Oct 12, 2018 (152)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 335825175 (NC_000009.12:114635349::A 171/129874) Row 335825176 (NC_000009.12:114635349::AA 1/129936) Row 335825177 (NC_000009.12:114635349:A: 5026/129762)...	-	Apr 26, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 335825175 (NC_000009.12:114635349::A 171/129874) Row 335825176 (NC_000009.12:114635349::AA 1/129936) Row 335825177 (NC_000009.12:114635349:A: 5026/129762)...	-	Apr 26, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 335825175 (NC_000009.12:114635349::A 171/129874) Row 335825176 (NC_000009.12:114635349::AA 1/129936) Row 335825177 (NC_000009.12:114635349:A: 5026/129762)...	-	Apr 26, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 335825175 (NC_000009.12:114635349::A 171/129874) Row 335825176 (NC_000009.12:114635349::AA 1/129936) Row 335825177 (NC_000009.12:114635349:A: 5026/129762)...	-	Apr 26, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 335825175 (NC_000009.12:114635349::A 171/129874) Row 335825176 (NC_000009.12:114635349::AA 1/129936) Row 335825177 (NC_000009.12:114635349:A: 5026/129762)...	-	Apr 26, 2021 (155)
62	Korean Genome Project Submission ignored due to conflicting rows: Row 22996553 (NC_000009.12:114635349:AA: 543/1832) Row 22996554 (NC_000009.12:114635350:A: 101/1832) Row 22996555 (NC_000009.12:114635351::A 31/1832)	-	Apr 26, 2020 (154)
63	Korean Genome Project Submission ignored due to conflicting rows: Row 22996553 (NC_000009.12:114635349:AA: 543/1832) Row 22996554 (NC_000009.12:114635350:A: 101/1832) Row 22996555 (NC_000009.12:114635351::A 31/1832)	-	Apr 26, 2020 (154)
64	Korean Genome Project Submission ignored due to conflicting rows: Row 22996553 (NC_000009.12:114635349:AA: 543/1832) Row 22996554 (NC_000009.12:114635350:A: 101/1832) Row 22996555 (NC_000009.12:114635351::A 31/1832)	-	Apr 26, 2020 (154)
65	Northern Sweden Submission ignored due to conflicting rows: Row 10108755 (NC_000009.11:117397629:AA: 127/600) Row 10108756 (NC_000009.11:117397629:A: 9/600) Row 10108757 (NC_000009.11:117397629::A 2/600)	-	Jul 13, 2019 (153)
66	Northern Sweden Submission ignored due to conflicting rows: Row 10108755 (NC_000009.11:117397629:AA: 127/600) Row 10108756 (NC_000009.11:117397629:A: 9/600) Row 10108757 (NC_000009.11:117397629::A 2/600)	-	Jul 13, 2019 (153)
67	Northern Sweden Submission ignored due to conflicting rows: Row 10108755 (NC_000009.11:117397629:AA: 127/600) Row 10108756 (NC_000009.11:117397629:A: 9/600) Row 10108757 (NC_000009.11:117397629::A 2/600)	-	Jul 13, 2019 (153)
68	8.3KJPN Submission ignored due to conflicting rows: Row 52980933 (NC_000009.11:117397629:AA: 6564/16760) Row 52980934 (NC_000009.11:117397629:A: 846/16760) Row 52980935 (NC_000009.11:117397629::A 10/16760)	-	Apr 26, 2021 (155)
69	8.3KJPN Submission ignored due to conflicting rows: Row 52980933 (NC_000009.11:117397629:AA: 6564/16760) Row 52980934 (NC_000009.11:117397629:A: 846/16760) Row 52980935 (NC_000009.11:117397629::A 10/16760)	-	Apr 26, 2021 (155)
70	8.3KJPN Submission ignored due to conflicting rows: Row 52980933 (NC_000009.11:117397629:AA: 6564/16760) Row 52980934 (NC_000009.11:117397629:A: 846/16760) Row 52980935 (NC_000009.11:117397629::A 10/16760)	-	Apr 26, 2021 (155)
71	14KJPN Submission ignored due to conflicting rows: Row 73293532 (NC_000009.12:114635349:A: 1362/28084) Row 73293533 (NC_000009.12:114635349:AA: 10669/28084) Row 73293534 (NC_000009.12:114635349::A 14/28084)	-	Oct 16, 2022 (156)
72	14KJPN Submission ignored due to conflicting rows: Row 73293532 (NC_000009.12:114635349:A: 1362/28084) Row 73293533 (NC_000009.12:114635349:AA: 10669/28084) Row 73293534 (NC_000009.12:114635349::A 14/28084)	-	Oct 16, 2022 (156)
73	14KJPN Submission ignored due to conflicting rows: Row 73293532 (NC_000009.12:114635349:A: 1362/28084) Row 73293533 (NC_000009.12:114635349:AA: 10669/28084) Row 73293534 (NC_000009.12:114635349::A 14/28084)	-	Oct 16, 2022 (156)
74	TopMed	NC_000009.12 - 114635350	Apr 26, 2021 (155)
75	UK 10K study - Twins	NC_000009.11 - 117397630	Oct 12, 2018 (152)
76	ALFA	NC_000009.12 - 114635350	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
ss4208334505	NC_000009.12:114635349:AAA:	NC_000009.12:114635349:AAAAAAAAAAA… NC_000009.12:114635349:AAAAAAAAAAAA:AAAAAAAAA	(self)
13275265776	NC_000009.12:114635349:AAAAAAAAAAA… NC_000009.12:114635349:AAAAAAAAAAAA:AAAAAAAAA	NC_000009.12:114635349:AAAAAAAAAAA… NC_000009.12:114635349:AAAAAAAAAAAA:AAAAAAAAA	(self)
ss103787680	NT_008470.19:46562170:AAA:	NC_000009.12:114635349:AAAAAAAAAAA… NC_000009.12:114635349:AAAAAAAAAAAA:AAAAAAAAA	(self)
ss288981254, ss295436206	NC_000009.10:116437450:AA:	NC_000009.12:114635349:AAAAAAAAAAA… NC_000009.12:114635349:AAAAAAAAAAAA:AAAAAAAAAA	(self)
26402144, 26402144, ss663894316, ss666481282, ss1536632377, ss1706535325, ss1706535517, ss1806134892, ss2627385769, ss3005491226, ss3736823890, ss3786506556, ss3796589950, ss3831829796, ss5195011626, ss5829664461, ss5977347620	NC_000009.11:117397629:AA:	NC_000009.12:114635349:AAAAAAAAAAA… NC_000009.12:114635349:AAAAAAAAAAAA:AAAAAAAAAA	(self)
670802467, ss3064350259, ss3065242938, ss3646168645, ss3724629128, ss3812780414, ss3966618552, ss4208334504, ss4833424906, ss5281964073, ss5477852291, ss5739456429, ss5917774381	NC_000009.12:114635349:AA:	NC_000009.12:114635349:AAAAAAAAAAA… NC_000009.12:114635349:AAAAAAAAAAAA:AAAAAAAAAA	(self)
13275265776	NC_000009.12:114635349:AAAAAAAAAAA… NC_000009.12:114635349:AAAAAAAAAAAA:AAAAAAAAAA	NC_000009.12:114635349:AAAAAAAAAAA… NC_000009.12:114635349:AAAAAAAAAAAA:AAAAAAAAAA	(self)
ss194038735	NT_008470.19:46562161:AA:	NC_000009.12:114635349:AAAAAAAAAAA… NC_000009.12:114635349:AAAAAAAAAAAA:AAAAAAAAAA	(self)
47517060, ss1368687707, ss3736823891, ss3786506555, ss3791708448, ss3796589951, ss5195011627	NC_000009.11:117397629:A:	NC_000009.12:114635349:AAAAAAAAAAA… NC_000009.12:114635349:AAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss3812780415, ss4208334503, ss5281964072, ss5477852292, ss5739456428	NC_000009.12:114635349:A:	NC_000009.12:114635349:AAAAAAAAAAA… NC_000009.12:114635349:AAAAAAAAAAAA:AAAAAAAAAAA	(self)
13275265776	NC_000009.12:114635349:AAAAAAAAAAA… NC_000009.12:114635349:AAAAAAAAAAAA:AAAAAAAAAAA	NC_000009.12:114635349:AAAAAAAAAAA… NC_000009.12:114635349:AAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss3724629127, ss3966618553	NC_000009.12:114635350:A:	NC_000009.12:114635349:AAAAAAAAAAA… NC_000009.12:114635349:AAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss3736823892, ss5195011628	NC_000009.11:117397629::A	NC_000009.12:114635349:AAAAAAAAAAA… NC_000009.12:114635349:AAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4208334501, ss5281964074, ss5477852293, ss5739456430	NC_000009.12:114635349::A	NC_000009.12:114635349:AAAAAAAAAAA… NC_000009.12:114635349:AAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
13275265776	NC_000009.12:114635349:AAAAAAAAAAA… NC_000009.12:114635349:AAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000009.12:114635349:AAAAAAAAAAA… NC_000009.12:114635349:AAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3724629126, ss3966618554	NC_000009.12:114635351::A	NC_000009.12:114635349:AAAAAAAAAAA… NC_000009.12:114635349:AAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4208334502	NC_000009.12:114635349::AA	NC_000009.12:114635349:AAAAAAAAAAA… NC_000009.12:114635349:AAAAAAAAAAAA:AAAAAAAAAAAAAA	(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 rs78652701

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

rs78652701