Name: rs529997491
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.

rs529997491

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:18996137-18996149 (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: delAA / delA / dupA / dupAA / dupA…
delAA / delA / dupA / dupAA / dupAAA / dup(A)₆
Variation Type: Indel Insertion and Deletion
Frequency: dupA=0.03049 (375/12300, ALFA)
dupAA=0.1653 (828/5008, 1000G)
dupAA=0.0291 (112/3854, ALSPAC) (+ 1 more)
dupAA=0.0291 (108/3708, TWINSUK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: FAM83G : Intron Variant
SLC5A10 : 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	12300	AAAAAAAAAAAAA=0.96691	AAAAAAAAAAA=0.00000, AAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAA=0.03049, AAAAAAAAAAAAAAA=0.00260, AAAAAAAAAAAAAAAA=0.00000	0.944454	0.004916	0.050631	32
European	Sub	9910	AAAAAAAAAAAAA=0.9591	AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0376, AAAAAAAAAAAAAAA=0.0032, AAAAAAAAAAAAAAAA=0.0000	0.931133	0.005909	0.062958	32
African	Sub	1594	AAAAAAAAAAAAA=1.0000	AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	58	AAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	1536	AAAAAAAAAAAAA=1.0000	AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	26	AAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	26	AAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	0	AAAAAAAAAAAAA=0	AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 1	Sub	94	AAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	372	AAAAAAAAAAAAA=1.000	AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	24	AAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	280	AAAAAAAAAAAAA=0.993	AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.007, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000	0.992857	0.007143	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
Allele Frequency Aggregator	Total	Global	12300	(A)₁₃=0.96691	delAA=0.00000, delA=0.00000, dupA=0.03049, dupAA=0.00260, dupAAA=0.00000
Allele Frequency Aggregator	European	Sub	9910	(A)₁₃=0.9591	delAA=0.0000, delA=0.0000, dupA=0.0376, dupAA=0.0032, dupAAA=0.0000
Allele Frequency Aggregator	African	Sub	1594	(A)₁₃=1.0000	delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	372	(A)₁₃=1.000	delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	Other	Sub	280	(A)₁₃=0.993	delAA=0.000, delA=0.000, dupA=0.007, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	Latin American 1	Sub	94	(A)₁₃=1.00	delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	Asian	Sub	26	(A)₁₃=1.00	delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	South Asian	Sub	24	(A)₁₃=1.00	delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
1000Genomes	Global	Study-wide	5008	- No frequency provided	dupA=0.1448, dupAA=0.1653
1000Genomes	African	Sub	1322	- No frequency provided	dupA=0.0885, dupAA=0.1225
1000Genomes	East Asian	Sub	1008	- No frequency provided	dupA=0.2391, dupAA=0.2103
1000Genomes	Europe	Sub	1006	- No frequency provided	dupA=0.1282, dupAA=0.0278
1000Genomes	South Asian	Sub	978	- No frequency provided	dupA=0.164, dupAA=0.374
1000Genomes	American	Sub	694	- No frequency provided	dupA=0.112, dupAA=0.086
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	- No frequency provided	dupAA=0.0291
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	- No frequency provided	dupAA=0.0291

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 17	NC_000017.11:g.18996148_18996149del
GRCh38.p14 chr 17	NC_000017.11:g.18996149del
GRCh38.p14 chr 17	NC_000017.11:g.18996149dup
GRCh38.p14 chr 17	NC_000017.11:g.18996148_18996149dup
GRCh38.p14 chr 17	NC_000017.11:g.18996147_18996149dup
GRCh38.p14 chr 17	NC_000017.11:g.18996144_18996149dup
GRCh37.p13 chr 17	NC_000017.10:g.18899461_18899462del
GRCh37.p13 chr 17	NC_000017.10:g.18899462del
GRCh37.p13 chr 17	NC_000017.10:g.18899462dup
GRCh37.p13 chr 17	NC_000017.10:g.18899461_18899462dup
GRCh37.p13 chr 17	NC_000017.10:g.18899460_18899462dup
GRCh37.p13 chr 17	NC_000017.10:g.18899457_18899462dup

Gene: FAM83G, family with sequence similarity 83 member G (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
FAM83G transcript	NM_001039999.3:c.522+7382… NM_001039999.3:c.522+7382_522+7383del	N/A	Intron Variant
FAM83G transcript variant X1	XM_017024953.3:c.522+7382… XM_017024953.3:c.522+7382_522+7383del	N/A	Intron Variant

Gene: SLC5A10, solute carrier family 5 member 10 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SLC5A10 transcript variant 2	NM_001042450.4:c.983-1726… NM_001042450.4:c.983-17262_983-17261del	N/A	Intron Variant
SLC5A10 transcript variant 3	NM_001270648.3:c.902-1726… NM_001270648.3:c.902-17262_902-17261del	N/A	Intron Variant
SLC5A10 transcript variant 4	NM_001270649.2:c.983-1890… NM_001270649.2:c.983-18901_983-18900del	N/A	Intron Variant
SLC5A10 transcript variant 5	NM_001282417.1:c.734-1721… NM_001282417.1:c.734-17214_734-17213del	N/A	Intron Variant
SLC5A10 transcript variant 1	NM_152351.6:c.983-17214_9… NM_152351.6:c.983-17214_983-17213del	N/A	Intron Variant
SLC5A10 transcript variant X1	XM_017024191.3:c.983-1721… XM_017024191.3:c.983-17214_983-17213del	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)₁₃=	delAA	delA	dupA	dupAA	dupAAA	dup(A)₆
GRCh38.p14 chr 17	NC_000017.11:g.18996137_18996149=	NC_000017.11:g.18996148_18996149del	NC_000017.11:g.18996149del	NC_000017.11:g.18996149dup	NC_000017.11:g.18996148_18996149dup	NC_000017.11:g.18996147_18996149dup	NC_000017.11:g.18996144_18996149dup
GRCh37.p13 chr 17	NC_000017.10:g.18899450_18899462=	NC_000017.10:g.18899461_18899462del	NC_000017.10:g.18899462del	NC_000017.10:g.18899462dup	NC_000017.10:g.18899461_18899462dup	NC_000017.10:g.18899460_18899462dup	NC_000017.10:g.18899457_18899462dup
FAM83G transcript	NM_001039999.2:c.522+7383=	NM_001039999.2:c.522+7382_522+7383del	NM_001039999.2:c.522+7383del	NM_001039999.2:c.522+7383dup	NM_001039999.2:c.522+7382_522+7383dup	NM_001039999.2:c.522+7381_522+7383dup	NM_001039999.2:c.522+7378_522+7383dup
FAM83G transcript	NM_001039999.3:c.522+7383=	NM_001039999.3:c.522+7382_522+7383del	NM_001039999.3:c.522+7383del	NM_001039999.3:c.522+7383dup	NM_001039999.3:c.522+7382_522+7383dup	NM_001039999.3:c.522+7381_522+7383dup	NM_001039999.3:c.522+7378_522+7383dup
SLC5A10 transcript variant 2	NM_001042450.2:c.983-17273=	NM_001042450.2:c.983-17262_983-17261del	NM_001042450.2:c.983-17261del	NM_001042450.2:c.983-17261dup	NM_001042450.2:c.983-17262_983-17261dup	NM_001042450.2:c.983-17263_983-17261dup	NM_001042450.2:c.983-17266_983-17261dup
SLC5A10 transcript variant 2	NM_001042450.4:c.983-17273=	NM_001042450.4:c.983-17262_983-17261del	NM_001042450.4:c.983-17261del	NM_001042450.4:c.983-17261dup	NM_001042450.4:c.983-17262_983-17261dup	NM_001042450.4:c.983-17263_983-17261dup	NM_001042450.4:c.983-17266_983-17261dup
SLC5A10 transcript variant 3	NM_001270648.1:c.902-17273=	NM_001270648.1:c.902-17262_902-17261del	NM_001270648.1:c.902-17261del	NM_001270648.1:c.902-17261dup	NM_001270648.1:c.902-17262_902-17261dup	NM_001270648.1:c.902-17263_902-17261dup	NM_001270648.1:c.902-17266_902-17261dup
SLC5A10 transcript variant 3	NM_001270648.3:c.902-17273=	NM_001270648.3:c.902-17262_902-17261del	NM_001270648.3:c.902-17261del	NM_001270648.3:c.902-17261dup	NM_001270648.3:c.902-17262_902-17261dup	NM_001270648.3:c.902-17263_902-17261dup	NM_001270648.3:c.902-17266_902-17261dup
SLC5A10 transcript variant 4	NM_001270649.1:c.983-18912=	NM_001270649.1:c.983-18901_983-18900del	NM_001270649.1:c.983-18900del	NM_001270649.1:c.983-18900dup	NM_001270649.1:c.983-18901_983-18900dup	NM_001270649.1:c.983-18902_983-18900dup	NM_001270649.1:c.983-18905_983-18900dup
SLC5A10 transcript variant 4	NM_001270649.2:c.983-18912=	NM_001270649.2:c.983-18901_983-18900del	NM_001270649.2:c.983-18900del	NM_001270649.2:c.983-18900dup	NM_001270649.2:c.983-18901_983-18900dup	NM_001270649.2:c.983-18902_983-18900dup	NM_001270649.2:c.983-18905_983-18900dup
SLC5A10 transcript variant 5	NM_001282417.1:c.734-17225=	NM_001282417.1:c.734-17214_734-17213del	NM_001282417.1:c.734-17213del	NM_001282417.1:c.734-17213dup	NM_001282417.1:c.734-17214_734-17213dup	NM_001282417.1:c.734-17215_734-17213dup	NM_001282417.1:c.734-17218_734-17213dup
SLC5A10 transcript variant 1	NM_152351.4:c.983-17225=	NM_152351.4:c.983-17214_983-17213del	NM_152351.4:c.983-17213del	NM_152351.4:c.983-17213dup	NM_152351.4:c.983-17214_983-17213dup	NM_152351.4:c.983-17215_983-17213dup	NM_152351.4:c.983-17218_983-17213dup
SLC5A10 transcript variant 1	NM_152351.6:c.983-17225=	NM_152351.6:c.983-17214_983-17213del	NM_152351.6:c.983-17213del	NM_152351.6:c.983-17213dup	NM_152351.6:c.983-17214_983-17213dup	NM_152351.6:c.983-17215_983-17213dup	NM_152351.6:c.983-17218_983-17213dup
SLC5A10 transcript variant X1	XM_005256457.1:c.983-17273=	XM_005256457.1:c.983-17262_983-17261del	XM_005256457.1:c.983-17261del	XM_005256457.1:c.983-17261dup	XM_005256457.1:c.983-17262_983-17261dup	XM_005256457.1:c.983-17263_983-17261dup	XM_005256457.1:c.983-17266_983-17261dup
SLC5A10 transcript variant X1	XM_017024191.3:c.983-17225=	XM_017024191.3:c.983-17214_983-17213del	XM_017024191.3:c.983-17213del	XM_017024191.3:c.983-17213dup	XM_017024191.3:c.983-17214_983-17213dup	XM_017024191.3:c.983-17215_983-17213dup	XM_017024191.3:c.983-17218_983-17213dup
FAM83G transcript variant X1	XM_017024953.3:c.522+7383=	XM_017024953.3:c.522+7382_522+7383del	XM_017024953.3:c.522+7383del	XM_017024953.3:c.522+7383dup	XM_017024953.3:c.522+7382_522+7383dup	XM_017024953.3:c.522+7381_522+7383dup	XM_017024953.3:c.522+7378_522+7383dup

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#.

43 SubSNP, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SSMP	ss664346895	Apr 01, 2015 (144)
2	1000GENOMES	ss1376476269	Aug 21, 2014 (142)
3	1000GENOMES	ss1376476271	Aug 21, 2014 (142)
4	EVA_UK10K_ALSPAC	ss1708711152	Apr 01, 2015 (144)
5	EVA_UK10K_TWINSUK	ss1708711197	Apr 01, 2015 (144)
6	PADH-LAB_SPU	ss1751365338	Sep 08, 2015 (146)
7	SWEGEN	ss3015301570	Nov 08, 2017 (151)
8	SWEGEN	ss3015301571	Nov 08, 2017 (151)
9	EVA_DECODE	ss3700205868	Jul 13, 2019 (153)
10	EVA_DECODE	ss3700205869	Jul 13, 2019 (153)
11	EVA_DECODE	ss3700205870	Jul 13, 2019 (153)
12	ACPOP	ss3741927072	Jul 13, 2019 (153)
13	ACPOP	ss3741927073	Jul 13, 2019 (153)
14	PACBIO	ss3788166906	Jul 13, 2019 (153)
15	KHV_HUMAN_GENOMES	ss3819798967	Jul 13, 2019 (153)
16	KHV_HUMAN_GENOMES	ss3819798968	Jul 13, 2019 (153)
17	EVA	ss3834811446	Apr 27, 2020 (154)
18	KOGIC	ss3978533300	Apr 27, 2020 (154)
19	KOGIC	ss3978533301	Apr 27, 2020 (154)
20	KOGIC	ss3978533302	Apr 27, 2020 (154)
21	GNOMAD	ss4308966126	Apr 26, 2021 (155)
22	GNOMAD	ss4308966127	Apr 26, 2021 (155)
23	GNOMAD	ss4308966128	Apr 26, 2021 (155)
24	GNOMAD	ss4308966129	Apr 26, 2021 (155)
25	GNOMAD	ss4308966130	Apr 26, 2021 (155)
26	TOMMO_GENOMICS	ss5221785142	Apr 26, 2021 (155)
27	TOMMO_GENOMICS	ss5221785143	Apr 26, 2021 (155)
28	TOMMO_GENOMICS	ss5221785144	Apr 26, 2021 (155)
29	TOMMO_GENOMICS	ss5221785145	Apr 26, 2021 (155)
30	1000G_HIGH_COVERAGE	ss5302646447	Oct 17, 2022 (156)
31	1000G_HIGH_COVERAGE	ss5302646448	Oct 17, 2022 (156)
32	1000G_HIGH_COVERAGE	ss5302646449	Oct 17, 2022 (156)
33	HUGCELL_USP	ss5495787312	Oct 17, 2022 (156)
34	HUGCELL_USP	ss5495787313	Oct 17, 2022 (156)
35	HUGCELL_USP	ss5495787314	Oct 17, 2022 (156)
36	HUGCELL_USP	ss5495787315	Oct 17, 2022 (156)
37	TOMMO_GENOMICS	ss5777465801	Oct 17, 2022 (156)
38	TOMMO_GENOMICS	ss5777465802	Oct 17, 2022 (156)
39	TOMMO_GENOMICS	ss5777465803	Oct 17, 2022 (156)
40	TOMMO_GENOMICS	ss5777465804	Oct 17, 2022 (156)
41	EVA	ss5833807959	Oct 17, 2022 (156)
42	EVA	ss5833807960	Oct 17, 2022 (156)
43	EVA	ss5951257412	Oct 17, 2022 (156)
44	1000Genomes	NC_000017.10 - 18899450	Oct 12, 2018 (152)
45	The Avon Longitudinal Study of Parents and Children	NC_000017.10 - 18899450	Oct 12, 2018 (152)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 503195675 (NC_000017.11:18996136::A 15845/126086) Row 503195676 (NC_000017.11:18996136::AA 8425/126092) Row 503195677 (NC_000017.11:18996136::AAA 17/126216)...	-	Apr 26, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 503195675 (NC_000017.11:18996136::A 15845/126086) Row 503195676 (NC_000017.11:18996136::AA 8425/126092) Row 503195677 (NC_000017.11:18996136::AAA 17/126216)...	-	Apr 26, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 503195675 (NC_000017.11:18996136::A 15845/126086) Row 503195676 (NC_000017.11:18996136::AA 8425/126092) Row 503195677 (NC_000017.11:18996136::AAA 17/126216)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 503195675 (NC_000017.11:18996136::A 15845/126086) Row 503195676 (NC_000017.11:18996136::AA 8425/126092) Row 503195677 (NC_000017.11:18996136::AAA 17/126216)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 503195675 (NC_000017.11:18996136::A 15845/126086) Row 503195676 (NC_000017.11:18996136::AA 8425/126092) Row 503195677 (NC_000017.11:18996136::AAA 17/126216)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 503195675 (NC_000017.11:18996136::A 15845/126086) Row 503195676 (NC_000017.11:18996136::AA 8425/126092) Row 503195677 (NC_000017.11:18996136::AAA 17/126216)...	-	Apr 26, 2021 (155)
52	Korean Genome Project Submission ignored due to conflicting rows: Row 34911301 (NC_000017.11:18996137::A 411/1832) Row 34911302 (NC_000017.11:18996137::AA 355/1832) Row 34911303 (NC_000017.11:18996136:A: 27/1832)	-	Apr 27, 2020 (154)
53	Korean Genome Project Submission ignored due to conflicting rows: Row 34911301 (NC_000017.11:18996137::A 411/1832) Row 34911302 (NC_000017.11:18996137::AA 355/1832) Row 34911303 (NC_000017.11:18996136:A: 27/1832)	-	Apr 27, 2020 (154)
54	Korean Genome Project Submission ignored due to conflicting rows: Row 34911301 (NC_000017.11:18996137::A 411/1832) Row 34911302 (NC_000017.11:18996137::AA 355/1832) Row 34911303 (NC_000017.11:18996136:A: 27/1832)	-	Apr 27, 2020 (154)
55	Northern Sweden Submission ignored due to conflicting rows: Row 15211937 (NC_000017.10:18899449::A 55/584) Row 15211938 (NC_000017.10:18899449::AA 6/584)	-	Jul 13, 2019 (153)
56	Northern Sweden Submission ignored due to conflicting rows: Row 15211937 (NC_000017.10:18899449::A 55/584) Row 15211938 (NC_000017.10:18899449::AA 6/584)	-	Jul 13, 2019 (153)
57	8.3KJPN Submission ignored due to conflicting rows: Row 79754449 (NC_000017.10:18899449::A 3435/16756) Row 79754450 (NC_000017.10:18899449::AA 4396/16756) Row 79754451 (NC_000017.10:18899449:A: 28/16756)...	-	Apr 26, 2021 (155)
58	8.3KJPN Submission ignored due to conflicting rows: Row 79754449 (NC_000017.10:18899449::A 3435/16756) Row 79754450 (NC_000017.10:18899449::AA 4396/16756) Row 79754451 (NC_000017.10:18899449:A: 28/16756)...	-	Apr 26, 2021 (155)
59	8.3KJPN Submission ignored due to conflicting rows: Row 79754449 (NC_000017.10:18899449::A 3435/16756) Row 79754450 (NC_000017.10:18899449::AA 4396/16756) Row 79754451 (NC_000017.10:18899449:A: 28/16756)...	-	Apr 26, 2021 (155)
60	8.3KJPN Submission ignored due to conflicting rows: Row 79754449 (NC_000017.10:18899449::A 3435/16756) Row 79754450 (NC_000017.10:18899449::AA 4396/16756) Row 79754451 (NC_000017.10:18899449:A: 28/16756)...	-	Apr 26, 2021 (155)
61	14KJPN Submission ignored due to conflicting rows: Row 111302905 (NC_000017.11:18996136::A 5454/27944) Row 111302906 (NC_000017.11:18996136::AA 6670/27944) Row 111302907 (NC_000017.11:18996136:A: 49/27944)...	-	Oct 17, 2022 (156)
62	14KJPN Submission ignored due to conflicting rows: Row 111302905 (NC_000017.11:18996136::A 5454/27944) Row 111302906 (NC_000017.11:18996136::AA 6670/27944) Row 111302907 (NC_000017.11:18996136:A: 49/27944)...	-	Oct 17, 2022 (156)
63	14KJPN Submission ignored due to conflicting rows: Row 111302905 (NC_000017.11:18996136::A 5454/27944) Row 111302906 (NC_000017.11:18996136::AA 6670/27944) Row 111302907 (NC_000017.11:18996136:A: 49/27944)...	-	Oct 17, 2022 (156)
64	14KJPN Submission ignored due to conflicting rows: Row 111302905 (NC_000017.11:18996136::A 5454/27944) Row 111302906 (NC_000017.11:18996136::AA 6670/27944) Row 111302907 (NC_000017.11:18996136:A: 49/27944)...	-	Oct 17, 2022 (156)
65	UK 10K study - Twins	NC_000017.10 - 18899450	Oct 12, 2018 (152)
66	ALFA	NC_000017.11 - 18996137	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
ss4308966130	NC_000017.11:18996136:AA:	NC_000017.11:18996136:AAAAAAAAAAAA… NC_000017.11:18996136:AAAAAAAAAAAAA:AAAAAAAAAAA	(self)
9782943209	NC_000017.11:18996136:AAAAAAAAAAAA… NC_000017.11:18996136:AAAAAAAAAAAAA:AAAAAAAAAAA	NC_000017.11:18996136:AAAAAAAAAAAA… NC_000017.11:18996136:AAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss3788166906, ss5221785144	NC_000017.10:18899449:A:	NC_000017.11:18996136:AAAAAAAAAAAA… NC_000017.11:18996136:AAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss3700205870, ss3978533302, ss5302646448, ss5495787314, ss5777465803	NC_000017.11:18996136:A:	NC_000017.11:18996136:AAAAAAAAAAAA… NC_000017.11:18996136:AAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
9782943209	NC_000017.11:18996136:AAAAAAAAAAAA… NC_000017.11:18996136:AAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000017.11:18996136:AAAAAAAAAAAA… NC_000017.11:18996136:AAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
71371873, ss1376476269, ss1751365338, ss3015301571, ss3741927072, ss3834811446, ss5221785142, ss5833807960	NC_000017.10:18899449::A	NC_000017.11:18996136:AAAAAAAAAAAA… NC_000017.11:18996136:AAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3819798968, ss4308966126, ss5302646449, ss5495787312, ss5777465801	NC_000017.11:18996136::A	NC_000017.11:18996136:AAAAAAAAAAAA… NC_000017.11:18996136:AAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
9782943209	NC_000017.11:18996136:AAAAAAAAAAAA… NC_000017.11:18996136:AAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000017.11:18996136:AAAAAAAAAAAA… NC_000017.11:18996136:AAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3700205869, ss3978533300	NC_000017.11:18996137::A	NC_000017.11:18996136:AAAAAAAAAAAA… NC_000017.11:18996136:AAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
71371873, 39577079, 39577079, ss664346895, ss1376476271, ss1708711152, ss1708711197, ss3015301570, ss3741927073, ss5221785143, ss5833807959, ss5951257412	NC_000017.10:18899449::AA	NC_000017.11:18996136:AAAAAAAAAAAA… NC_000017.11:18996136:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3819798967, ss4308966127, ss5302646447, ss5495787313, ss5777465802	NC_000017.11:18996136::AA	NC_000017.11:18996136:AAAAAAAAAAAA… NC_000017.11:18996136:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
9782943209	NC_000017.11:18996136:AAAAAAAAAAAA… NC_000017.11:18996136:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000017.11:18996136:AAAAAAAAAAAA… NC_000017.11:18996136:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3700205868, ss3978533301	NC_000017.11:18996137::AA	NC_000017.11:18996136:AAAAAAAAAAAA… NC_000017.11:18996136:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss5221785145	NC_000017.10:18899449::AAA	NC_000017.11:18996136:AAAAAAAAAAAA… NC_000017.11:18996136:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4308966128, ss5495787315, ss5777465804	NC_000017.11:18996136::AAA	NC_000017.11:18996136:AAAAAAAAAAAA… NC_000017.11:18996136:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
9782943209	NC_000017.11:18996136:AAAAAAAAAAAA… NC_000017.11:18996136:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000017.11:18996136:AAAAAAAAAAAA… NC_000017.11:18996136:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4308966129	NC_000017.11:18996136::AAAAAA	NC_000017.11:18996136:AAAAAAAAAAAA… NC_000017.11:18996136:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(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 rs529997491

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

rs529997491