Name: rs748460031
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.

rs748460031

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr13:51444801-51444816 (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(T)₇ / del(T)₆ / del(T)₄ / delT…
del(T)₇ / del(T)₆ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₅
Variation Type: Indel Insertion and Deletion
Frequency: dupT=0.00372 (67/18005, ALFA)
delT=0.16 (6/38, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: INTS6 : 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	18005	TTTTTTTTTTTTTTTT=0.99600	TTTTTTTTT=0.00000, TTTTTTTTTT=0.00000, TTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00028, TTTTTTTTTTTTTTTTT=0.00372, TTTTTTTTTTTTTTTTTT=0.00000	0.992664	0.000111	0.007225	4
European	Sub	13847	TTTTTTTTTTTTTTTT=0.99487	TTTTTTTTT=0.00000, TTTTTTTTTT=0.00000, TTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00029, TTTTTTTTTTTTTTTTT=0.00484, TTTTTTTTTTTTTTTTTT=0.00000	0.990461	0.000145	0.009394	3
African	Sub	2740	TTTTTTTTTTTTTTTT=1.0000	TTTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	112	TTTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African American	Sub	2628	TTTTTTTTTTTTTTTT=1.0000	TTTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	106	TTTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
East Asian	Sub	80	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	26	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	142	TTTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Latin American 2	Sub	600	TTTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	98	TTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	472	TTTTTTTTTTTTTTTT=0.998	TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.002, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	18005	(T)₁₆=0.99600	del(T)₇=0.00000, del(T)₆=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.00028, dupT=0.00372, dupTT=0.00000
Allele Frequency Aggregator	European	Sub	13847	(T)₁₆=0.99487	del(T)₇=0.00000, del(T)₆=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.00029, dupT=0.00484, dupTT=0.00000
Allele Frequency Aggregator	African	Sub	2740	(T)₁₆=1.0000	del(T)₇=0.0000, del(T)₆=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	600	(T)₁₆=1.000	del(T)₇=0.000, del(T)₆=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000
Allele Frequency Aggregator	Other	Sub	472	(T)₁₆=0.998	del(T)₇=0.000, del(T)₆=0.000, delTTT=0.000, delTT=0.000, delT=0.002, dupT=0.000, dupTT=0.000
Allele Frequency Aggregator	Latin American 1	Sub	142	(T)₁₆=1.000	del(T)₇=0.000, del(T)₆=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000
Allele Frequency Aggregator	Asian	Sub	106	(T)₁₆=1.000	del(T)₇=0.000, del(T)₆=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000
Allele Frequency Aggregator	South Asian	Sub	98	(T)₁₆=1.00	del(T)₇=0.00, del(T)₆=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00
The Danish reference pan genome	Danish	Study-wide	38	(T)₁₆=0.84	delT=0.16

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 13	NC_000013.11:g.51444810_51444816del
GRCh38.p14 chr 13	NC_000013.11:g.51444811_51444816del
GRCh38.p14 chr 13	NC_000013.11:g.51444813_51444816del
GRCh38.p14 chr 13	NC_000013.11:g.51444814_51444816del
GRCh38.p14 chr 13	NC_000013.11:g.51444815_51444816del
GRCh38.p14 chr 13	NC_000013.11:g.51444816del
GRCh38.p14 chr 13	NC_000013.11:g.51444816dup
GRCh38.p14 chr 13	NC_000013.11:g.51444815_51444816dup
GRCh38.p14 chr 13	NC_000013.11:g.51444814_51444816dup
GRCh38.p14 chr 13	NC_000013.11:g.51444813_51444816dup
GRCh38.p14 chr 13	NC_000013.11:g.51444812_51444816dup
GRCh37.p13 chr 13	NC_000013.10:g.52018946_52018952del
GRCh37.p13 chr 13	NC_000013.10:g.52018947_52018952del
GRCh37.p13 chr 13	NC_000013.10:g.52018949_52018952del
GRCh37.p13 chr 13	NC_000013.10:g.52018950_52018952del
GRCh37.p13 chr 13	NC_000013.10:g.52018951_52018952del
GRCh37.p13 chr 13	NC_000013.10:g.52018952del
GRCh37.p13 chr 13	NC_000013.10:g.52018952dup
GRCh37.p13 chr 13	NC_000013.10:g.52018951_52018952dup
GRCh37.p13 chr 13	NC_000013.10:g.52018950_52018952dup
GRCh37.p13 chr 13	NC_000013.10:g.52018949_52018952dup
GRCh37.p13 chr 13	NC_000013.10:g.52018948_52018952dup

Gene: INTS6, integrator complex subunit 6 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
INTS6 transcript variant 2	NM_001039937.2:c.300+6218… NM_001039937.2:c.300+6218_300+6224del	N/A	Intron Variant
INTS6 transcript variant 4	NM_001306091.2:c.-480+621… NM_001306091.2:c.-480+6218_-480+6224del	N/A	Intron Variant
INTS6 transcript variant 1	NM_012141.3:c.339+6218_33… NM_012141.3:c.339+6218_339+6224del	N/A	Intron Variant
INTS6 transcript variant 3	NM_001039938.2:c.6200_6… NM_001039938.2:c.6200_6215=	N/A	3 Prime UTR Variant
INTS6 transcript variant X1	XM_011535040.4:c.339+6218… XM_011535040.4:c.339+6218_339+6224del	N/A	Intron Variant
INTS6 transcript variant X6	XM_047430264.1:c.	N/A	Genic Upstream Transcript Variant
INTS6 transcript variant X7	XM_047430265.1:c.	N/A	Genic Upstream Transcript Variant
INTS6 transcript variant X2	XR_007063673.1:n.	N/A	Intron Variant
INTS6 transcript variant X3	XR_007063674.1:n.	N/A	Intron Variant
INTS6 transcript variant X4	XR_007063675.1:n.	N/A	Intron Variant
INTS6 transcript variant X5	XR_007063676.1: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	(T)₁₆=	del(T)₇	del(T)₆	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₅
GRCh38.p14 chr 13	NC_000013.11:g.51444801_51444816=	NC_000013.11:g.51444810_51444816del	NC_000013.11:g.51444811_51444816del	NC_000013.11:g.51444813_51444816del	NC_000013.11:g.51444814_51444816del	NC_000013.11:g.51444815_51444816del	NC_000013.11:g.51444816del	NC_000013.11:g.51444816dup	NC_000013.11:g.51444815_51444816dup	NC_000013.11:g.51444814_51444816dup	NC_000013.11:g.51444813_51444816dup	NC_000013.11:g.51444812_51444816dup
GRCh37.p13 chr 13	NC_000013.10:g.52018937_52018952=	NC_000013.10:g.52018946_52018952del	NC_000013.10:g.52018947_52018952del	NC_000013.10:g.52018949_52018952del	NC_000013.10:g.52018950_52018952del	NC_000013.10:g.52018951_52018952del	NC_000013.10:g.52018952del	NC_000013.10:g.52018952dup	NC_000013.10:g.52018951_52018952dup	NC_000013.10:g.52018950_52018952dup	NC_000013.10:g.52018949_52018952dup	NC_000013.10:g.52018948_52018952dup
INTS6 transcript variant 3	NM_001039938.2:c.6200_6215=	NM_001039938.2:c.6209_6215del	NM_001039938.2:c.6210_6215del	NM_001039938.2:c.6212_6215del	NM_001039938.2:c.6213_6215del	NM_001039938.2:c.6214_6215del	NM_001039938.2:c.*6215del	NM_001039938.2:c.*6215dup	NM_001039938.2:c.6214_6215dup	NM_001039938.2:c.6213_6215dup	NM_001039938.2:c.6212_6215dup	NM_001039938.2:c.6211_6215dup
INTS6 transcript variant 2	NM_001039937.1:c.300+6224=	NM_001039937.1:c.300+6218_300+6224del	NM_001039937.1:c.300+6219_300+6224del	NM_001039937.1:c.300+6221_300+6224del	NM_001039937.1:c.300+6222_300+6224del	NM_001039937.1:c.300+6223_300+6224del	NM_001039937.1:c.300+6224del	NM_001039937.1:c.300+6224dup	NM_001039937.1:c.300+6223_300+6224dup	NM_001039937.1:c.300+6222_300+6224dup	NM_001039937.1:c.300+6221_300+6224dup	NM_001039937.1:c.300+6220_300+6224dup
INTS6 transcript variant 2	NM_001039937.2:c.300+6224=	NM_001039937.2:c.300+6218_300+6224del	NM_001039937.2:c.300+6219_300+6224del	NM_001039937.2:c.300+6221_300+6224del	NM_001039937.2:c.300+6222_300+6224del	NM_001039937.2:c.300+6223_300+6224del	NM_001039937.2:c.300+6224del	NM_001039937.2:c.300+6224dup	NM_001039937.2:c.300+6223_300+6224dup	NM_001039937.2:c.300+6222_300+6224dup	NM_001039937.2:c.300+6221_300+6224dup	NM_001039937.2:c.300+6220_300+6224dup
INTS6 transcript variant 4	NM_001306091.2:c.-480+6224=	NM_001306091.2:c.-480+6218_-480+6224del	NM_001306091.2:c.-480+6219_-480+6224del	NM_001306091.2:c.-480+6221_-480+6224del	NM_001306091.2:c.-480+6222_-480+6224del	NM_001306091.2:c.-480+6223_-480+6224del	NM_001306091.2:c.-480+6224del	NM_001306091.2:c.-480+6224dup	NM_001306091.2:c.-480+6223_-480+6224dup	NM_001306091.2:c.-480+6222_-480+6224dup	NM_001306091.2:c.-480+6221_-480+6224dup	NM_001306091.2:c.-480+6220_-480+6224dup
INTS6 transcript variant 1	NM_012141.2:c.339+6224=	NM_012141.2:c.339+6218_339+6224del	NM_012141.2:c.339+6219_339+6224del	NM_012141.2:c.339+6221_339+6224del	NM_012141.2:c.339+6222_339+6224del	NM_012141.2:c.339+6223_339+6224del	NM_012141.2:c.339+6224del	NM_012141.2:c.339+6224dup	NM_012141.2:c.339+6223_339+6224dup	NM_012141.2:c.339+6222_339+6224dup	NM_012141.2:c.339+6221_339+6224dup	NM_012141.2:c.339+6220_339+6224dup
INTS6 transcript variant 1	NM_012141.3:c.339+6224=	NM_012141.3:c.339+6218_339+6224del	NM_012141.3:c.339+6219_339+6224del	NM_012141.3:c.339+6221_339+6224del	NM_012141.3:c.339+6222_339+6224del	NM_012141.3:c.339+6223_339+6224del	NM_012141.3:c.339+6224del	NM_012141.3:c.339+6224dup	NM_012141.3:c.339+6223_339+6224dup	NM_012141.3:c.339+6222_339+6224dup	NM_012141.3:c.339+6221_339+6224dup	NM_012141.3:c.339+6220_339+6224dup
INTS6 transcript variant X1	XM_005266339.1:c.339+6224=	XM_005266339.1:c.339+6218_339+6224del	XM_005266339.1:c.339+6219_339+6224del	XM_005266339.1:c.339+6221_339+6224del	XM_005266339.1:c.339+6222_339+6224del	XM_005266339.1:c.339+6223_339+6224del	XM_005266339.1:c.339+6224del	XM_005266339.1:c.339+6224dup	XM_005266339.1:c.339+6223_339+6224dup	XM_005266339.1:c.339+6222_339+6224dup	XM_005266339.1:c.339+6221_339+6224dup	XM_005266339.1:c.339+6220_339+6224dup
INTS6 transcript variant X2	XM_005266340.1:c.-480+6224=	XM_005266340.1:c.-480+6218_-480+6224del	XM_005266340.1:c.-480+6219_-480+6224del	XM_005266340.1:c.-480+6221_-480+6224del	XM_005266340.1:c.-480+6222_-480+6224del	XM_005266340.1:c.-480+6223_-480+6224del	XM_005266340.1:c.-480+6224del	XM_005266340.1:c.-480+6224dup	XM_005266340.1:c.-480+6223_-480+6224dup	XM_005266340.1:c.-480+6222_-480+6224dup	XM_005266340.1:c.-480+6221_-480+6224dup	XM_005266340.1:c.-480+6220_-480+6224dup
INTS6 transcript variant X3	XM_005266341.1:c.-863+6224=	XM_005266341.1:c.-863+6218_-863+6224del	XM_005266341.1:c.-863+6219_-863+6224del	XM_005266341.1:c.-863+6221_-863+6224del	XM_005266341.1:c.-863+6222_-863+6224del	XM_005266341.1:c.-863+6223_-863+6224del	XM_005266341.1:c.-863+6224del	XM_005266341.1:c.-863+6224dup	XM_005266341.1:c.-863+6223_-863+6224dup	XM_005266341.1:c.-863+6222_-863+6224dup	XM_005266341.1:c.-863+6221_-863+6224dup	XM_005266341.1:c.-863+6220_-863+6224dup
INTS6 transcript variant X1	XM_011535040.4:c.339+6224=	XM_011535040.4:c.339+6218_339+6224del	XM_011535040.4:c.339+6219_339+6224del	XM_011535040.4:c.339+6221_339+6224del	XM_011535040.4:c.339+6222_339+6224del	XM_011535040.4:c.339+6223_339+6224del	XM_011535040.4:c.339+6224del	XM_011535040.4:c.339+6224dup	XM_011535040.4:c.339+6223_339+6224dup	XM_011535040.4:c.339+6222_339+6224dup	XM_011535040.4:c.339+6221_339+6224dup	XM_011535040.4:c.339+6220_339+6224dup

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#.

41 SubSNP, 30 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SSMP	ss664181489	Apr 01, 2015 (144)
2	EVA_GENOME_DK	ss1574639207	Apr 01, 2015 (144)
3	EVA_UK10K_ALSPAC	ss1707789262	Apr 01, 2015 (144)
4	EVA_UK10K_ALSPAC	ss1707789265	Apr 01, 2015 (144)
5	EVA_UK10K_TWINSUK	ss1707789290	Apr 01, 2015 (144)
6	EVA_UK10K_TWINSUK	ss1707789297	Apr 01, 2015 (144)
7	SWEGEN	ss3011032726	Nov 08, 2017 (151)
8	EVA_DECODE	ss3695306523	Jul 13, 2019 (153)
9	EVA_DECODE	ss3695306524	Jul 13, 2019 (153)
10	EVA_DECODE	ss3695306526	Jul 13, 2019 (153)
11	PACBIO	ss3787460912	Jul 13, 2019 (153)
12	KOGIC	ss3973578891	Apr 27, 2020 (154)
13	KOGIC	ss3973578892	Apr 27, 2020 (154)
14	GNOMAD	ss4265970478	Apr 26, 2021 (155)
15	GNOMAD	ss4265970479	Apr 26, 2021 (155)
16	GNOMAD	ss4265970480	Apr 26, 2021 (155)
17	GNOMAD	ss4265970481	Apr 26, 2021 (155)
18	GNOMAD	ss4265970483	Apr 26, 2021 (155)
19	GNOMAD	ss4265970484	Apr 26, 2021 (155)
20	GNOMAD	ss4265970485	Apr 26, 2021 (155)
21	GNOMAD	ss4265970486	Apr 26, 2021 (155)
22	GNOMAD	ss4265970487	Apr 26, 2021 (155)
23	GNOMAD	ss4265970488	Apr 26, 2021 (155)
24	TOPMED	ss4946544788	Apr 26, 2021 (155)
25	TOPMED	ss4946544789	Apr 26, 2021 (155)
26	TOMMO_GENOMICS	ss5210028751	Apr 26, 2021 (155)
27	TOMMO_GENOMICS	ss5210028752	Apr 26, 2021 (155)
28	TOMMO_GENOMICS	ss5210028753	Apr 26, 2021 (155)
29	TOMMO_GENOMICS	ss5210028754	Apr 26, 2021 (155)
30	TOMMO_GENOMICS	ss5210028755	Apr 26, 2021 (155)
31	1000G_HIGH_COVERAGE	ss5293758738	Oct 16, 2022 (156)
32	HUGCELL_USP	ss5488120387	Oct 16, 2022 (156)
33	HUGCELL_USP	ss5488120388	Oct 16, 2022 (156)
34	HUGCELL_USP	ss5488120389	Oct 16, 2022 (156)
35	HUGCELL_USP	ss5488120391	Oct 16, 2022 (156)
36	TOMMO_GENOMICS	ss5761913721	Oct 16, 2022 (156)
37	TOMMO_GENOMICS	ss5761913722	Oct 16, 2022 (156)
38	TOMMO_GENOMICS	ss5761913723	Oct 16, 2022 (156)
39	TOMMO_GENOMICS	ss5761913725	Oct 16, 2022 (156)
40	TOMMO_GENOMICS	ss5761913726	Oct 16, 2022 (156)
41	EVA	ss5850733203	Oct 16, 2022 (156)
42	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 33961772 (NC_000013.10:52018936::TTTT 472/3854) Row 33961774 (NC_000013.10:52018936::TTTTT 484/3854)	-	Oct 12, 2018 (152)
43	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 33961772 (NC_000013.10:52018936::TTTT 472/3854) Row 33961774 (NC_000013.10:52018936::TTTTT 484/3854)	-	Oct 12, 2018 (152)
44	The Danish reference pan genome	NC_000013.10 - 52018937	Apr 27, 2020 (154)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 430930482 (NC_000013.11:51444800::T 1553/103426) Row 430930483 (NC_000013.11:51444800::TT 7/103474) Row 430930484 (NC_000013.11:51444800::TTT 1/103480)...	-	Apr 26, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 430930482 (NC_000013.11:51444800::T 1553/103426) Row 430930483 (NC_000013.11:51444800::TT 7/103474) Row 430930484 (NC_000013.11:51444800::TTT 1/103480)...	-	Apr 26, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 430930482 (NC_000013.11:51444800::T 1553/103426) Row 430930483 (NC_000013.11:51444800::TT 7/103474) Row 430930484 (NC_000013.11:51444800::TTT 1/103480)...	-	Apr 26, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 430930482 (NC_000013.11:51444800::T 1553/103426) Row 430930483 (NC_000013.11:51444800::TT 7/103474) Row 430930484 (NC_000013.11:51444800::TTT 1/103480)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 430930482 (NC_000013.11:51444800::T 1553/103426) Row 430930483 (NC_000013.11:51444800::TT 7/103474) Row 430930484 (NC_000013.11:51444800::TTT 1/103480)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 430930482 (NC_000013.11:51444800::T 1553/103426) Row 430930483 (NC_000013.11:51444800::TT 7/103474) Row 430930484 (NC_000013.11:51444800::TTT 1/103480)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 430930482 (NC_000013.11:51444800::T 1553/103426) Row 430930483 (NC_000013.11:51444800::TT 7/103474) Row 430930484 (NC_000013.11:51444800::TTT 1/103480)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 430930482 (NC_000013.11:51444800::T 1553/103426) Row 430930483 (NC_000013.11:51444800::TT 7/103474) Row 430930484 (NC_000013.11:51444800::TTT 1/103480)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 430930482 (NC_000013.11:51444800::T 1553/103426) Row 430930483 (NC_000013.11:51444800::TT 7/103474) Row 430930484 (NC_000013.11:51444800::TTT 1/103480)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 430930482 (NC_000013.11:51444800::T 1553/103426) Row 430930483 (NC_000013.11:51444800::TT 7/103474) Row 430930484 (NC_000013.11:51444800::TTT 1/103480)...	-	Apr 26, 2021 (155)
55	Korean Genome Project Submission ignored due to conflicting rows: Row 29956892 (NC_000013.11:51444801::T 244/1832) Row 29956893 (NC_000013.11:51444800:T: 128/1832)	-	Apr 27, 2020 (154)
56	Korean Genome Project Submission ignored due to conflicting rows: Row 29956892 (NC_000013.11:51444801::T 244/1832) Row 29956893 (NC_000013.11:51444800:T: 128/1832)	-	Apr 27, 2020 (154)
57	8.3KJPN Submission ignored due to conflicting rows: Row 67998058 (NC_000013.10:52018936::T 2070/16650) Row 67998059 (NC_000013.10:52018936:T: 20/16650) Row 67998060 (NC_000013.10:52018936::TT 5/16650)...	-	Apr 26, 2021 (155)
58	8.3KJPN Submission ignored due to conflicting rows: Row 67998058 (NC_000013.10:52018936::T 2070/16650) Row 67998059 (NC_000013.10:52018936:T: 20/16650) Row 67998060 (NC_000013.10:52018936::TT 5/16650)...	-	Apr 26, 2021 (155)
59	8.3KJPN Submission ignored due to conflicting rows: Row 67998058 (NC_000013.10:52018936::T 2070/16650) Row 67998059 (NC_000013.10:52018936:T: 20/16650) Row 67998060 (NC_000013.10:52018936::TT 5/16650)...	-	Apr 26, 2021 (155)
60	8.3KJPN Submission ignored due to conflicting rows: Row 67998058 (NC_000013.10:52018936::T 2070/16650) Row 67998059 (NC_000013.10:52018936:T: 20/16650) Row 67998060 (NC_000013.10:52018936::TT 5/16650)...	-	Apr 26, 2021 (155)
61	8.3KJPN Submission ignored due to conflicting rows: Row 67998058 (NC_000013.10:52018936::T 2070/16650) Row 67998059 (NC_000013.10:52018936:T: 20/16650) Row 67998060 (NC_000013.10:52018936::TT 5/16650)...	-	Apr 26, 2021 (155)
62	14KJPN Submission ignored due to conflicting rows: Row 95750825 (NC_000013.11:51444800::T 3574/28258) Row 95750826 (NC_000013.11:51444800:T: 27/28258) Row 95750827 (NC_000013.11:51444800::TT 4/28258)...	-	Oct 16, 2022 (156)
63	14KJPN Submission ignored due to conflicting rows: Row 95750825 (NC_000013.11:51444800::T 3574/28258) Row 95750826 (NC_000013.11:51444800:T: 27/28258) Row 95750827 (NC_000013.11:51444800::TT 4/28258)...	-	Oct 16, 2022 (156)
64	14KJPN Submission ignored due to conflicting rows: Row 95750825 (NC_000013.11:51444800::T 3574/28258) Row 95750826 (NC_000013.11:51444800:T: 27/28258) Row 95750827 (NC_000013.11:51444800::TT 4/28258)...	-	Oct 16, 2022 (156)
65	14KJPN Submission ignored due to conflicting rows: Row 95750825 (NC_000013.11:51444800::T 3574/28258) Row 95750826 (NC_000013.11:51444800:T: 27/28258) Row 95750827 (NC_000013.11:51444800::TT 4/28258)...	-	Oct 16, 2022 (156)
66	14KJPN Submission ignored due to conflicting rows: Row 95750825 (NC_000013.11:51444800::T 3574/28258) Row 95750826 (NC_000013.11:51444800:T: 27/28258) Row 95750827 (NC_000013.11:51444800::TT 4/28258)...	-	Oct 16, 2022 (156)
67	TopMed Submission ignored due to conflicting rows: Row 162090446 (NC_000013.11:51444800:TTTTTT: 1/264690) Row 162090447 (NC_000013.11:51444800:TTTTTTT: 25/264690)	-	Apr 26, 2021 (155)
68	TopMed Submission ignored due to conflicting rows: Row 162090446 (NC_000013.11:51444800:TTTTTT: 1/264690) Row 162090447 (NC_000013.11:51444800:TTTTTTT: 25/264690)	-	Apr 26, 2021 (155)
69	UK 10K study - Twins Submission ignored due to conflicting rows: Row 33961772 (NC_000013.10:52018936::TTTT 468/3708) Row 33961774 (NC_000013.10:52018936::TTTTT 365/3708)	-	Oct 12, 2018 (152)
70	UK 10K study - Twins Submission ignored due to conflicting rows: Row 33961772 (NC_000013.10:52018936::TTTT 468/3708) Row 33961774 (NC_000013.10:52018936::TTTTT 365/3708)	-	Oct 12, 2018 (152)
71	ALFA	NC_000013.11 - 51444801	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
ss5210028755	NC_000013.10:52018936:TTTTTTT:	NC_000013.11:51444800:TTTTTTTTTTTT… NC_000013.11:51444800:TTTTTTTTTTTTTTTT:TTTTTTTTT	(self)
ss4265970488, ss4946544789, ss5488120391, ss5761913726	NC_000013.11:51444800:TTTTTTT:	NC_000013.11:51444800:TTTTTTTTTTTT… NC_000013.11:51444800:TTTTTTTTTTTTTTTT:TTTTTTTTT	(self)
4983048648	NC_000013.11:51444800:TTTTTTTTTTTT… NC_000013.11:51444800:TTTTTTTTTTTTTTTT:TTTTTTTTT	NC_000013.11:51444800:TTTTTTTTTTTT… NC_000013.11:51444800:TTTTTTTTTTTTTTTT:TTTTTTTTT	(self)
ss5210028754	NC_000013.10:52018936:TTTTTT:	NC_000013.11:51444800:TTTTTTTTTTTT… NC_000013.11:51444800:TTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
ss4265970487, ss4946544788, ss5761913725	NC_000013.11:51444800:TTTTTT:	NC_000013.11:51444800:TTTTTTTTTTTT… NC_000013.11:51444800:TTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
4983048648	NC_000013.11:51444800:TTTTTTTTTTTT… NC_000013.11:51444800:TTTTTTTTTTTTTTTT:TTTTTTTTTT	NC_000013.11:51444800:TTTTTTTTTTTT… NC_000013.11:51444800:TTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
ss4265970486	NC_000013.11:51444800:TTTT:	NC_000013.11:51444800:TTTTTTTTTTTT… NC_000013.11:51444800:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
4983048648	NC_000013.11:51444800:TTTTTTTTTTTT… NC_000013.11:51444800:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000013.11:51444800:TTTTTTTTTTTT… NC_000013.11:51444800:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4265970485, ss5488120387	NC_000013.11:51444800:TT:	NC_000013.11:51444800:TTTTTTTTTTTT… NC_000013.11:51444800:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
4983048648	NC_000013.11:51444800:TTTTTTTTTTTT… NC_000013.11:51444800:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000013.11:51444800:TTTTTTTTTTTT… NC_000013.11:51444800:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
405418, ss1574639207, ss3011032726, ss3787460912, ss5210028752	NC_000013.10:52018936:T:	NC_000013.11:51444800:TTTTTTTTTTTT… NC_000013.11:51444800:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3695306523, ss3973578892, ss4265970484, ss5293758738, ss5488120388, ss5761913722, ss5850733203	NC_000013.11:51444800:T:	NC_000013.11:51444800:TTTTTTTTTTTT… NC_000013.11:51444800:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
4983048648	NC_000013.11:51444800:TTTTTTTTTTTT… NC_000013.11:51444800:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000013.11:51444800:TTTTTTTTTTTT… NC_000013.11:51444800:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss664181489, ss5210028751	NC_000013.10:52018936::T	NC_000013.11:51444800:TTTTTTTTTTTT… NC_000013.11:51444800:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4265970478, ss5488120389, ss5761913721	NC_000013.11:51444800::T	NC_000013.11:51444800:TTTTTTTTTTTT… NC_000013.11:51444800:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
4983048648	NC_000013.11:51444800:TTTTTTTTTTTT… NC_000013.11:51444800:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000013.11:51444800:TTTTTTTTTTTT… NC_000013.11:51444800:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3695306524, ss3973578891	NC_000013.11:51444801::T	NC_000013.11:51444800:TTTTTTTTTTTT… NC_000013.11:51444800:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss5210028753	NC_000013.10:52018936::TT	NC_000013.11:51444800:TTTTTTTTTTTT… NC_000013.11:51444800:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4265970479, ss5761913723	NC_000013.11:51444800::TT	NC_000013.11:51444800:TTTTTTTTTTTT… NC_000013.11:51444800:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
4983048648	NC_000013.11:51444800:TTTTTTTTTTTT… NC_000013.11:51444800:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000013.11:51444800:TTTTTTTTTTTT… NC_000013.11:51444800:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4265970480	NC_000013.11:51444800::TTT	NC_000013.11:51444800:TTTTTTTTTTTT… NC_000013.11:51444800:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss1707789262, ss1707789290	NC_000013.10:52018936::TTTT	NC_000013.11:51444800:TTTTTTTTTTTT… NC_000013.11:51444800:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4265970481	NC_000013.11:51444800::TTTT	NC_000013.11:51444800:TTTTTTTTTTTT… NC_000013.11:51444800:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss3695306526	NC_000013.11:51444801::TTTT	NC_000013.11:51444800:TTTTTTTTTTTT… NC_000013.11:51444800:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss1707789265, ss1707789297	NC_000013.10:52018936::TTTTT	NC_000013.11:51444800:TTTTTTTTTTTT… NC_000013.11:51444800:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4265970483	NC_000013.11:51444800::TTTTT	NC_000013.11:51444800:TTTTTTTTTTTT… NC_000013.11:51444800:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss2360522434	NC_000013.10:52018936:TT:	NC_000013.11:51444800:TTTTTTTTTTTT… NC_000013.11:51444800:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs748460031

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

rs748460031