Name: rs1491257356
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.

rs1491257356

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:20703487-20703498 (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(GATG)₂ / delGATG / dupGATG / d…
del(GATG)₂ / delGATG / dupGATG / dup(GATG)₂ / dup(GATG)₃ / ins(GATG)₄ / ins(GATG)₅ / ins(GATG)₈
Variation Type: Indel Insertion and Deletion
Frequency: dup(GATG)₃=0.000004 (1/264690, TOPMED)
dupGATG=0.00061 (13/21288, 14KJPN)
dupGATG=0.00054 (9/16574, 8.3KJPN) (+ 7 more)
delGATG=0.00000 (0/11518, ALFA)
dupGATG=0.00000 (0/11518, ALFA)
dup(GATG)₂=0.00000 (0/11518, ALFA)
dup(GATG)₃=0.00000 (0/11518, ALFA)
ins(GATG)₄=0.00000 (0/11518, ALFA)
ins(GATG)₅=0.00000 (0/11518, ALFA)
dupGATG=0.0027 (5/1826, Korea1K)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: KIF17 : 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	HWEP
Total	Global	11518	GATGGATGGATG=1.00000	GATGGATG=0.00000, GATGGATGGATGGATG=0.00000, GATGGATGGATGGATGGATG=0.00000, GATGGATGGATGGATGGATGGATG=0.00000, GATGGATGGATGGATGGATGGATGGATG=0.00000, GATGGATGGATGGATGGATGGATGGATGGATG=0.00000	1.0	N/A
European	Sub	7604	GATGGATGGATG=1.0000	GATGGATG=0.0000, GATGGATGGATGGATG=0.0000, GATGGATGGATGGATGGATG=0.0000, GATGGATGGATGGATGGATGGATG=0.0000, GATGGATGGATGGATGGATGGATGGATG=0.0000, GATGGATGGATGGATGGATGGATGGATGGATG=0.0000	1.0	N/A
African	Sub	2522	GATGGATGGATG=1.0000	GATGGATG=0.0000, GATGGATGGATGGATG=0.0000, GATGGATGGATGGATGGATG=0.0000, GATGGATGGATGGATGGATGGATG=0.0000, GATGGATGGATGGATGGATGGATGGATG=0.0000, GATGGATGGATGGATGGATGGATGGATGGATG=0.0000	1.0	N/A
African Others	Sub	90	GATGGATGGATG=1.00	GATGGATG=0.00, GATGGATGGATGGATG=0.00, GATGGATGGATGGATGGATG=0.00, GATGGATGGATGGATGGATGGATG=0.00, GATGGATGGATGGATGGATGGATGGATG=0.00, GATGGATGGATGGATGGATGGATGGATGGATG=0.00	1.0	N/A
African American	Sub	2432	GATGGATGGATG=1.0000	GATGGATG=0.0000, GATGGATGGATGGATG=0.0000, GATGGATGGATGGATGGATG=0.0000, GATGGATGGATGGATGGATGGATG=0.0000, GATGGATGGATGGATGGATGGATGGATG=0.0000, GATGGATGGATGGATGGATGGATGGATGGATG=0.0000	1.0	N/A
Asian	Sub	108	GATGGATGGATG=1.000	GATGGATG=0.000, GATGGATGGATGGATG=0.000, GATGGATGGATGGATGGATG=0.000, GATGGATGGATGGATGGATGGATG=0.000, GATGGATGGATGGATGGATGGATGGATG=0.000, GATGGATGGATGGATGGATGGATGGATGGATG=0.000	1.0	N/A
East Asian	Sub	84	GATGGATGGATG=1.00	GATGGATG=0.00, GATGGATGGATGGATG=0.00, GATGGATGGATGGATGGATG=0.00, GATGGATGGATGGATGGATGGATG=0.00, GATGGATGGATGGATGGATGGATGGATG=0.00, GATGGATGGATGGATGGATGGATGGATGGATG=0.00	1.0	N/A
Other Asian	Sub	24	GATGGATGGATG=1.00	GATGGATG=0.00, GATGGATGGATGGATG=0.00, GATGGATGGATGGATGGATG=0.00, GATGGATGGATGGATGGATGGATG=0.00, GATGGATGGATGGATGGATGGATGGATG=0.00, GATGGATGGATGGATGGATGGATGGATGGATG=0.00	1.0	N/A
Latin American 1	Sub	142	GATGGATGGATG=1.000	GATGGATG=0.000, GATGGATGGATGGATG=0.000, GATGGATGGATGGATGGATG=0.000, GATGGATGGATGGATGGATGGATG=0.000, GATGGATGGATGGATGGATGGATGGATG=0.000, GATGGATGGATGGATGGATGGATGGATGGATG=0.000	1.0	N/A
Latin American 2	Sub	598	GATGGATGGATG=1.000	GATGGATG=0.000, GATGGATGGATGGATG=0.000, GATGGATGGATGGATGGATG=0.000, GATGGATGGATGGATGGATGGATG=0.000, GATGGATGGATGGATGGATGGATGGATG=0.000, GATGGATGGATGGATGGATGGATGGATGGATG=0.000	1.0	N/A
South Asian	Sub	94	GATGGATGGATG=1.00	GATGGATG=0.00, GATGGATGGATGGATG=0.00, GATGGATGGATGGATGGATG=0.00, GATGGATGGATGGATGGATGGATG=0.00, GATGGATGGATGGATGGATGGATGGATG=0.00, GATGGATGGATGGATGGATGGATGGATGGATG=0.00	1.0	N/A
Other	Sub	450	GATGGATGGATG=1.000	GATGGATG=0.000, GATGGATGGATGGATG=0.000, GATGGATGGATGGATGGATG=0.000, GATGGATGGATGGATGGATGGATG=0.000, GATGGATGGATGGATGGATGGATGGATG=0.000, GATGGATGGATGGATGGATGGATGGATGGATG=0.000	1.0	N/A

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	- No frequency provided	dup(GATG)₃=0.000004
14KJPN	JAPANESE	Study-wide	21288	- No frequency provided	dupGATG=0.00061
8.3KJPN	JAPANESE	Study-wide	16574	- No frequency provided	dupGATG=0.00054
Allele Frequency Aggregator	Total	Global	11518	(GATG)₃=1.00000	delGATG=0.00000, dupGATG=0.00000, dup(GATG)₂=0.00000, dup(GATG)₃=0.00000, ins(GATG)₄=0.00000, ins(GATG)₅=0.00000
Allele Frequency Aggregator	European	Sub	7604	(GATG)₃=1.0000	delGATG=0.0000, dupGATG=0.0000, dup(GATG)₂=0.0000, dup(GATG)₃=0.0000, ins(GATG)₄=0.0000, ins(GATG)₅=0.0000
Allele Frequency Aggregator	African	Sub	2522	(GATG)₃=1.0000	delGATG=0.0000, dupGATG=0.0000, dup(GATG)₂=0.0000, dup(GATG)₃=0.0000, ins(GATG)₄=0.0000, ins(GATG)₅=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	598	(GATG)₃=1.000	delGATG=0.000, dupGATG=0.000, dup(GATG)₂=0.000, dup(GATG)₃=0.000, ins(GATG)₄=0.000, ins(GATG)₅=0.000
Allele Frequency Aggregator	Other	Sub	450	(GATG)₃=1.000	delGATG=0.000, dupGATG=0.000, dup(GATG)₂=0.000, dup(GATG)₃=0.000, ins(GATG)₄=0.000, ins(GATG)₅=0.000
Allele Frequency Aggregator	Latin American 1	Sub	142	(GATG)₃=1.000	delGATG=0.000, dupGATG=0.000, dup(GATG)₂=0.000, dup(GATG)₃=0.000, ins(GATG)₄=0.000, ins(GATG)₅=0.000
Allele Frequency Aggregator	Asian	Sub	108	(GATG)₃=1.000	delGATG=0.000, dupGATG=0.000, dup(GATG)₂=0.000, dup(GATG)₃=0.000, ins(GATG)₄=0.000, ins(GATG)₅=0.000
Allele Frequency Aggregator	South Asian	Sub	94	(GATG)₃=1.00	delGATG=0.00, dupGATG=0.00, dup(GATG)₂=0.00, dup(GATG)₃=0.00, ins(GATG)₄=0.00, ins(GATG)₅=0.00
Korean Genome Project	KOREAN	Study-wide	1826	- No frequency provided	dupGATG=0.0027

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 1	NC_000001.11:g.20703487GATG[1]
GRCh38.p14 chr 1	NC_000001.11:g.20703487GATG[2]
GRCh38.p14 chr 1	NC_000001.11:g.20703487GATG[4]
GRCh38.p14 chr 1	NC_000001.11:g.20703487GATG[5]
GRCh38.p14 chr 1	NC_000001.11:g.20703487GATG[6]
GRCh38.p14 chr 1	NC_000001.11:g.20703487GATG[7]
GRCh38.p14 chr 1	NC_000001.11:g.20703487GATG[8]
GRCh38.p14 chr 1	NC_000001.11:g.20703487GATG[11]
GRCh37.p13 chr 1	NC_000001.10:g.21029980GATG[1]
GRCh37.p13 chr 1	NC_000001.10:g.21029980GATG[2]
GRCh37.p13 chr 1	NC_000001.10:g.21029980GATG[4]
GRCh37.p13 chr 1	NC_000001.10:g.21029980GATG[5]
GRCh37.p13 chr 1	NC_000001.10:g.21029980GATG[6]
GRCh37.p13 chr 1	NC_000001.10:g.21029980GATG[7]
GRCh37.p13 chr 1	NC_000001.10:g.21029980GATG[8]
GRCh37.p13 chr 1	NC_000001.10:g.21029980GATG[11]

Gene: KIF17, kinesin family member 17 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
KIF17 transcript variant 2	NM_001122819.3:c.1123+953… NM_001122819.3:c.1123+953_1123+960del	N/A	Intron Variant
KIF17 transcript variant 3	NM_001287212.2:c.823+953_… NM_001287212.2:c.823+953_823+960del	N/A	Intron Variant
KIF17 transcript variant 1	NM_020816.4:c.1123+953_11… NM_020816.4:c.1123+953_1123+960del	N/A	Intron Variant
KIF17 transcript variant X1	XM_047426146.1:c.1123+953… XM_047426146.1:c.1123+953_1123+960del	N/A	Intron Variant
KIF17 transcript variant X2	XM_047426147.1:c.1123+953… XM_047426147.1:c.1123+953_1123+960del	N/A	Intron Variant
KIF17 transcript variant X3	XM_047426148.1:c.1123+953… XM_047426148.1:c.1123+953_1123+960del	N/A	Intron Variant
KIF17 transcript variant X5	XM_047426149.1:c.1123+953… XM_047426149.1:c.1123+953_1123+960del	N/A	Intron Variant
KIF17 transcript variant X6	XM_047426150.1:c.1123+953… XM_047426150.1:c.1123+953_1123+960del	N/A	Intron Variant
KIF17 transcript variant X7	XM_047426151.1:c.1123+953… XM_047426151.1:c.1123+953_1123+960del	N/A	Intron Variant
KIF17 transcript variant X8	XM_047426152.1:c.1123+953… XM_047426152.1:c.1123+953_1123+960del	N/A	Intron Variant
KIF17 transcript variant X9	XM_047426153.1:c.1123+953… XM_047426153.1:c.1123+953_1123+960del	N/A	Intron Variant
KIF17 transcript variant X10	XM_047426154.1:c.1123+953… XM_047426154.1:c.1123+953_1123+960del	N/A	Intron Variant
KIF17 transcript variant X11	XM_047426155.1:c.1123+953… XM_047426155.1:c.1123+953_1123+960del	N/A	Intron Variant
KIF17 transcript variant X12	XM_047426156.1:c.1123+953… XM_047426156.1:c.1123+953_1123+960del	N/A	Intron Variant
KIF17 transcript variant X13	XM_047426157.1:c.1123+953… XM_047426157.1:c.1123+953_1123+960del	N/A	Intron Variant
KIF17 transcript variant X14	XM_047426158.1:c.823+953_… XM_047426158.1:c.823+953_823+960del	N/A	Intron Variant
KIF17 transcript variant X15	XM_047426159.1:c.1123+953… XM_047426159.1:c.1123+953_1123+960del	N/A	Intron Variant
KIF17 transcript variant X17	XM_047426161.1:c.1123+953… XM_047426161.1:c.1123+953_1123+960del	N/A	Intron Variant
KIF17 transcript variant X16	XM_047426160.1:c.	N/A	Genic Upstream Transcript Variant
KIF17 transcript variant X4	XR_007062426.1: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	(GATG)₃=	del(GATG)₂	delGATG	dupGATG	dup(GATG)₂	dup(GATG)₃	ins(GATG)₄	ins(GATG)₅	ins(GATG)₈
GRCh38.p14 chr 1	NC_000001.11:g.20703487_20703498=	NC_000001.11:g.20703487GATG[1]	NC_000001.11:g.20703487GATG[2]	NC_000001.11:g.20703487GATG[4]	NC_000001.11:g.20703487GATG[5]	NC_000001.11:g.20703487GATG[6]	NC_000001.11:g.20703487GATG[7]	NC_000001.11:g.20703487GATG[8]	NC_000001.11:g.20703487GATG[11]
GRCh37.p13 chr 1	NC_000001.10:g.21029980_21029991=	NC_000001.10:g.21029980GATG[1]	NC_000001.10:g.21029980GATG[2]	NC_000001.10:g.21029980GATG[4]	NC_000001.10:g.21029980GATG[5]	NC_000001.10:g.21029980GATG[6]	NC_000001.10:g.21029980GATG[7]	NC_000001.10:g.21029980GATG[8]	NC_000001.10:g.21029980GATG[11]
KIF17 transcript variant 2	NM_001122819.1:c.1123+960=	NM_001122819.1:c.1123+953_1123+960del	NM_001122819.1:c.1123+949CATC[2]	NM_001122819.1:c.1123+949CATC[4]	NM_001122819.1:c.1123+949CATC[5]	NM_001122819.1:c.1123+949CATC[6]	NM_001122819.1:c.1123+949CATC[7]	NM_001122819.1:c.1123+949CATC[8]	NM_001122819.1:c.1123+949CATC[11]
KIF17 transcript variant 2	NM_001122819.3:c.1123+960=	NM_001122819.3:c.1123+953_1123+960del	NM_001122819.3:c.1123+949CATC[2]	NM_001122819.3:c.1123+949CATC[4]	NM_001122819.3:c.1123+949CATC[5]	NM_001122819.3:c.1123+949CATC[6]	NM_001122819.3:c.1123+949CATC[7]	NM_001122819.3:c.1123+949CATC[8]	NM_001122819.3:c.1123+949CATC[11]
KIF17 transcript variant 3	NM_001287212.2:c.823+960=	NM_001287212.2:c.823+953_823+960del	NM_001287212.2:c.823+949CATC[2]	NM_001287212.2:c.823+949CATC[4]	NM_001287212.2:c.823+949CATC[5]	NM_001287212.2:c.823+949CATC[6]	NM_001287212.2:c.823+949CATC[7]	NM_001287212.2:c.823+949CATC[8]	NM_001287212.2:c.823+949CATC[11]
KIF17 transcript variant 1	NM_020816.2:c.1123+960=	NM_020816.2:c.1123+953_1123+960del	NM_020816.2:c.1123+949CATC[2]	NM_020816.2:c.1123+949CATC[4]	NM_020816.2:c.1123+949CATC[5]	NM_020816.2:c.1123+949CATC[6]	NM_020816.2:c.1123+949CATC[7]	NM_020816.2:c.1123+949CATC[8]	NM_020816.2:c.1123+949CATC[11]
KIF17 transcript variant 1	NM_020816.4:c.1123+960=	NM_020816.4:c.1123+953_1123+960del	NM_020816.4:c.1123+949CATC[2]	NM_020816.4:c.1123+949CATC[4]	NM_020816.4:c.1123+949CATC[5]	NM_020816.4:c.1123+949CATC[6]	NM_020816.4:c.1123+949CATC[7]	NM_020816.4:c.1123+949CATC[8]	NM_020816.4:c.1123+949CATC[11]
KIF17 transcript variant X1	XM_005245950.1:c.1123+960=	XM_005245950.1:c.1123+953_1123+960del	XM_005245950.1:c.1123+949CATC[2]	XM_005245950.1:c.1123+949CATC[4]	XM_005245950.1:c.1123+949CATC[5]	XM_005245950.1:c.1123+949CATC[6]	XM_005245950.1:c.1123+949CATC[7]	XM_005245950.1:c.1123+949CATC[8]	XM_005245950.1:c.1123+949CATC[11]
KIF17 transcript variant X2	XM_005245951.1:c.1123+960=	XM_005245951.1:c.1123+953_1123+960del	XM_005245951.1:c.1123+949CATC[2]	XM_005245951.1:c.1123+949CATC[4]	XM_005245951.1:c.1123+949CATC[5]	XM_005245951.1:c.1123+949CATC[6]	XM_005245951.1:c.1123+949CATC[7]	XM_005245951.1:c.1123+949CATC[8]	XM_005245951.1:c.1123+949CATC[11]
KIF17 transcript variant X1	XM_047426146.1:c.1123+960=	XM_047426146.1:c.1123+953_1123+960del	XM_047426146.1:c.1123+949CATC[2]	XM_047426146.1:c.1123+949CATC[4]	XM_047426146.1:c.1123+949CATC[5]	XM_047426146.1:c.1123+949CATC[6]	XM_047426146.1:c.1123+949CATC[7]	XM_047426146.1:c.1123+949CATC[8]	XM_047426146.1:c.1123+949CATC[11]
KIF17 transcript variant X2	XM_047426147.1:c.1123+960=	XM_047426147.1:c.1123+953_1123+960del	XM_047426147.1:c.1123+949CATC[2]	XM_047426147.1:c.1123+949CATC[4]	XM_047426147.1:c.1123+949CATC[5]	XM_047426147.1:c.1123+949CATC[6]	XM_047426147.1:c.1123+949CATC[7]	XM_047426147.1:c.1123+949CATC[8]	XM_047426147.1:c.1123+949CATC[11]
KIF17 transcript variant X3	XM_047426148.1:c.1123+960=	XM_047426148.1:c.1123+953_1123+960del	XM_047426148.1:c.1123+949CATC[2]	XM_047426148.1:c.1123+949CATC[4]	XM_047426148.1:c.1123+949CATC[5]	XM_047426148.1:c.1123+949CATC[6]	XM_047426148.1:c.1123+949CATC[7]	XM_047426148.1:c.1123+949CATC[8]	XM_047426148.1:c.1123+949CATC[11]
KIF17 transcript variant X5	XM_047426149.1:c.1123+960=	XM_047426149.1:c.1123+953_1123+960del	XM_047426149.1:c.1123+949CATC[2]	XM_047426149.1:c.1123+949CATC[4]	XM_047426149.1:c.1123+949CATC[5]	XM_047426149.1:c.1123+949CATC[6]	XM_047426149.1:c.1123+949CATC[7]	XM_047426149.1:c.1123+949CATC[8]	XM_047426149.1:c.1123+949CATC[11]
KIF17 transcript variant X6	XM_047426150.1:c.1123+960=	XM_047426150.1:c.1123+953_1123+960del	XM_047426150.1:c.1123+949CATC[2]	XM_047426150.1:c.1123+949CATC[4]	XM_047426150.1:c.1123+949CATC[5]	XM_047426150.1:c.1123+949CATC[6]	XM_047426150.1:c.1123+949CATC[7]	XM_047426150.1:c.1123+949CATC[8]	XM_047426150.1:c.1123+949CATC[11]
KIF17 transcript variant X7	XM_047426151.1:c.1123+960=	XM_047426151.1:c.1123+953_1123+960del	XM_047426151.1:c.1123+949CATC[2]	XM_047426151.1:c.1123+949CATC[4]	XM_047426151.1:c.1123+949CATC[5]	XM_047426151.1:c.1123+949CATC[6]	XM_047426151.1:c.1123+949CATC[7]	XM_047426151.1:c.1123+949CATC[8]	XM_047426151.1:c.1123+949CATC[11]
KIF17 transcript variant X8	XM_047426152.1:c.1123+960=	XM_047426152.1:c.1123+953_1123+960del	XM_047426152.1:c.1123+949CATC[2]	XM_047426152.1:c.1123+949CATC[4]	XM_047426152.1:c.1123+949CATC[5]	XM_047426152.1:c.1123+949CATC[6]	XM_047426152.1:c.1123+949CATC[7]	XM_047426152.1:c.1123+949CATC[8]	XM_047426152.1:c.1123+949CATC[11]
KIF17 transcript variant X9	XM_047426153.1:c.1123+960=	XM_047426153.1:c.1123+953_1123+960del	XM_047426153.1:c.1123+949CATC[2]	XM_047426153.1:c.1123+949CATC[4]	XM_047426153.1:c.1123+949CATC[5]	XM_047426153.1:c.1123+949CATC[6]	XM_047426153.1:c.1123+949CATC[7]	XM_047426153.1:c.1123+949CATC[8]	XM_047426153.1:c.1123+949CATC[11]
KIF17 transcript variant X10	XM_047426154.1:c.1123+960=	XM_047426154.1:c.1123+953_1123+960del	XM_047426154.1:c.1123+949CATC[2]	XM_047426154.1:c.1123+949CATC[4]	XM_047426154.1:c.1123+949CATC[5]	XM_047426154.1:c.1123+949CATC[6]	XM_047426154.1:c.1123+949CATC[7]	XM_047426154.1:c.1123+949CATC[8]	XM_047426154.1:c.1123+949CATC[11]
KIF17 transcript variant X11	XM_047426155.1:c.1123+960=	XM_047426155.1:c.1123+953_1123+960del	XM_047426155.1:c.1123+949CATC[2]	XM_047426155.1:c.1123+949CATC[4]	XM_047426155.1:c.1123+949CATC[5]	XM_047426155.1:c.1123+949CATC[6]	XM_047426155.1:c.1123+949CATC[7]	XM_047426155.1:c.1123+949CATC[8]	XM_047426155.1:c.1123+949CATC[11]
KIF17 transcript variant X12	XM_047426156.1:c.1123+960=	XM_047426156.1:c.1123+953_1123+960del	XM_047426156.1:c.1123+949CATC[2]	XM_047426156.1:c.1123+949CATC[4]	XM_047426156.1:c.1123+949CATC[5]	XM_047426156.1:c.1123+949CATC[6]	XM_047426156.1:c.1123+949CATC[7]	XM_047426156.1:c.1123+949CATC[8]	XM_047426156.1:c.1123+949CATC[11]
KIF17 transcript variant X13	XM_047426157.1:c.1123+960=	XM_047426157.1:c.1123+953_1123+960del	XM_047426157.1:c.1123+949CATC[2]	XM_047426157.1:c.1123+949CATC[4]	XM_047426157.1:c.1123+949CATC[5]	XM_047426157.1:c.1123+949CATC[6]	XM_047426157.1:c.1123+949CATC[7]	XM_047426157.1:c.1123+949CATC[8]	XM_047426157.1:c.1123+949CATC[11]
KIF17 transcript variant X14	XM_047426158.1:c.823+960=	XM_047426158.1:c.823+953_823+960del	XM_047426158.1:c.823+949CATC[2]	XM_047426158.1:c.823+949CATC[4]	XM_047426158.1:c.823+949CATC[5]	XM_047426158.1:c.823+949CATC[6]	XM_047426158.1:c.823+949CATC[7]	XM_047426158.1:c.823+949CATC[8]	XM_047426158.1:c.823+949CATC[11]
KIF17 transcript variant X15	XM_047426159.1:c.1123+960=	XM_047426159.1:c.1123+953_1123+960del	XM_047426159.1:c.1123+949CATC[2]	XM_047426159.1:c.1123+949CATC[4]	XM_047426159.1:c.1123+949CATC[5]	XM_047426159.1:c.1123+949CATC[6]	XM_047426159.1:c.1123+949CATC[7]	XM_047426159.1:c.1123+949CATC[8]	XM_047426159.1:c.1123+949CATC[11]
KIF17 transcript variant X17	XM_047426161.1:c.1123+960=	XM_047426161.1:c.1123+953_1123+960del	XM_047426161.1:c.1123+949CATC[2]	XM_047426161.1:c.1123+949CATC[4]	XM_047426161.1:c.1123+949CATC[5]	XM_047426161.1:c.1123+949CATC[6]	XM_047426161.1:c.1123+949CATC[7]	XM_047426161.1:c.1123+949CATC[8]	XM_047426161.1:c.1123+949CATC[11]

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#.

15 SubSNP, 12 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SWEGEN	ss2986434436	Jan 10, 2018 (151)
2	KOGIC	ss3943991449	Apr 25, 2020 (154)
3	GNOMAD	ss3989503346	Apr 27, 2021 (155)
4	GNOMAD	ss3989503347	Apr 27, 2021 (155)
5	GNOMAD	ss3989503348	Apr 27, 2021 (155)
6	GNOMAD	ss3989503350	Apr 27, 2021 (155)
7	GNOMAD	ss3989503351	Apr 27, 2021 (155)
8	GNOMAD	ss3989503352	Apr 27, 2021 (155)
9	GNOMAD	ss3989503355	Apr 27, 2021 (155)
10	TOPMED	ss4441487181	Apr 27, 2021 (155)
11	TOMMO_GENOMICS	ss5142837789	Apr 27, 2021 (155)
12	1000G_HIGH_COVERAGE	ss5241441084	Oct 19, 2022 (156)
13	HUGCELL_USP	ss5442598705	Oct 19, 2022 (156)
14	HUGCELL_USP	ss5442598706	Oct 19, 2022 (156)
15	TOMMO_GENOMICS	ss5667246103	Oct 19, 2022 (156)
16	gnomAD - Genomes Submission ignored due to conflicting rows: Row 4489247 (NC_000001.11:20703486::GATG 3147/96426) Row 4489248 (NC_000001.11:20703486::GATGGATG 131/96464) Row 4489249 (NC_000001.11:20703486::GATGGATGGATG 3/96466)...	-	Apr 27, 2021 (155)
17	gnomAD - Genomes Submission ignored due to conflicting rows: Row 4489247 (NC_000001.11:20703486::GATG 3147/96426) Row 4489248 (NC_000001.11:20703486::GATGGATG 131/96464) Row 4489249 (NC_000001.11:20703486::GATGGATGGATG 3/96466)...	-	Apr 27, 2021 (155)
18	gnomAD - Genomes Submission ignored due to conflicting rows: Row 4489247 (NC_000001.11:20703486::GATG 3147/96426) Row 4489248 (NC_000001.11:20703486::GATGGATG 131/96464) Row 4489249 (NC_000001.11:20703486::GATGGATGGATG 3/96466)...	-	Apr 27, 2021 (155)
19	gnomAD - Genomes Submission ignored due to conflicting rows: Row 4489247 (NC_000001.11:20703486::GATG 3147/96426) Row 4489248 (NC_000001.11:20703486::GATGGATG 131/96464) Row 4489249 (NC_000001.11:20703486::GATGGATGGATG 3/96466)...	-	Apr 27, 2021 (155)
20	gnomAD - Genomes Submission ignored due to conflicting rows: Row 4489247 (NC_000001.11:20703486::GATG 3147/96426) Row 4489248 (NC_000001.11:20703486::GATGGATG 131/96464) Row 4489249 (NC_000001.11:20703486::GATGGATGGATG 3/96466)...	-	Apr 27, 2021 (155)
21	gnomAD - Genomes Submission ignored due to conflicting rows: Row 4489247 (NC_000001.11:20703486::GATG 3147/96426) Row 4489248 (NC_000001.11:20703486::GATGGATG 131/96464) Row 4489249 (NC_000001.11:20703486::GATGGATGGATG 3/96466)...	-	Apr 27, 2021 (155)
22	gnomAD - Genomes Submission ignored due to conflicting rows: Row 4489247 (NC_000001.11:20703486::GATG 3147/96426) Row 4489248 (NC_000001.11:20703486::GATGGATG 131/96464) Row 4489249 (NC_000001.11:20703486::GATGGATGGATG 3/96466)...	-	Apr 27, 2021 (155)
23	Korean Genome Project	NC_000001.11 - 20703487	Apr 25, 2020 (154)
24	8.3KJPN	NC_000001.10 - 21029980	Apr 27, 2021 (155)
25	14KJPN	NC_000001.11 - 20703487	Oct 19, 2022 (156)
26	TopMed	NC_000001.11 - 20703487	Apr 27, 2021 (155)
27	ALFA	NC_000001.11 - 20703487	Apr 27, 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
ss3989503355	NC_000001.11:20703486:GATGGATG:	NC_000001.11:20703486:GATGGATGGATG… NC_000001.11:20703486:GATGGATGGATG:GATG	(self)
7345427994	NC_000001.11:20703486:GATGGATGGATG… NC_000001.11:20703486:GATGGATGGATG:GATGGATG	NC_000001.11:20703486:GATGGATGGATG… NC_000001.11:20703486:GATGGATGGATG:GATGGATG	(self)
807096, ss5142837789	NC_000001.10:21029979::GATG	NC_000001.11:20703486:GATGGATGGATG… NC_000001.11:20703486:GATGGATGGATG:GATGGATGGATGGATG	(self)
369450, 1083207, ss3943991449, ss3989503346, ss5241441084, ss5442598705, ss5667246103	NC_000001.11:20703486::GATG	NC_000001.11:20703486:GATGGATGGATG… NC_000001.11:20703486:GATGGATGGATG:GATGGATGGATGGATG	(self)
7345427994	NC_000001.11:20703486:GATGGATGGATG… NC_000001.11:20703486:GATGGATGGATG:GATGGATGGATGGATG	NC_000001.11:20703486:GATGGATGGATG… NC_000001.11:20703486:GATGGATGGATG:GATGGATGGATGGATG	(self)
ss2986434436	NC_000001.10:21029979::GATGGATG	NC_000001.11:20703486:GATGGATGGATG… NC_000001.11:20703486:GATGGATGGATG:GATGGATGGATGGATGGATG	(self)
ss3989503347, ss5442598706	NC_000001.11:20703486::GATGGATG	NC_000001.11:20703486:GATGGATGGATG… NC_000001.11:20703486:GATGGATGGATG:GATGGATGGATGGATGGATG	(self)
7345427994	NC_000001.11:20703486:GATGGATGGATG… NC_000001.11:20703486:GATGGATGGATG:GATGGATGGATGGATGGATG	NC_000001.11:20703486:GATGGATGGATG… NC_000001.11:20703486:GATGGATGGATG:GATGGATGGATGGATGGATG	(self)
5093516, ss3989503348, ss4441487181	NC_000001.11:20703486::GATGGATGGATG	NC_000001.11:20703486:GATGGATGGATG… NC_000001.11:20703486:GATGGATGGATG:GATGGATGGATGGATGGATGGATG	(self)
7345427994	NC_000001.11:20703486:GATGGATGGATG… NC_000001.11:20703486:GATGGATGGATG:GATGGATGGATGGATGGATGGATG	NC_000001.11:20703486:GATGGATGGATG… NC_000001.11:20703486:GATGGATGGATG:GATGGATGGATGGATGGATGGATG	(self)
ss3989503350	NC_000001.11:20703486::GATGGATGGAT… NC_000001.11:20703486::GATGGATGGATGGATG	NC_000001.11:20703486:GATGGATGGATG… NC_000001.11:20703486:GATGGATGGATG:GATGGATGGATGGATGGATGGATGGATG	(self)
7345427994	NC_000001.11:20703486:GATGGATGGATG… NC_000001.11:20703486:GATGGATGGATG:GATGGATGGATGGATGGATGGATGGATG	NC_000001.11:20703486:GATGGATGGATG… NC_000001.11:20703486:GATGGATGGATG:GATGGATGGATGGATGGATGGATGGATG	(self)
ss3989503351	NC_000001.11:20703486::GATGGATGGAT… NC_000001.11:20703486::GATGGATGGATGGATGGATG	NC_000001.11:20703486:GATGGATGGATG… NC_000001.11:20703486:GATGGATGGATG:GATGGATGGATGGATGGATGGATGGATGGATG	(self)
7345427994	NC_000001.11:20703486:GATGGATGGATG… NC_000001.11:20703486:GATGGATGGATG:GATGGATGGATGGATGGATGGATGGATGGATG	NC_000001.11:20703486:GATGGATGGATG… NC_000001.11:20703486:GATGGATGGATG:GATGGATGGATGGATGGATGGATGGATGGATG	(self)
ss3989503352	NC_000001.11:20703486::GATGGATGGAT… NC_000001.11:20703486::GATGGATGGATGGATGGATGGATGGATGGATG	NC_000001.11:20703486:GATGGATGGATG… NC_000001.11:20703486:GATGGATGGATG:GATGGATGGATGGATGGATGGATGGATGGATGGATGGATGGATG	(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 rs1491257356

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

rs1491257356