Name: rs34680752
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.

rs34680752

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:29750553-29750565 (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: delTTT / delTT / delT / dupT / dup…
delTTT / delTT / delT / dupT / dupTT
Variation Type: Indel Insertion and Deletion
Frequency: delTT=0.2744 (1813/6608, ALFA)
(T)₁₃=0.4867 (2012/4134, 1000G)
delTT=0.4637 (1787/3854, ALSPAC) (+ 1 more)
dupT=0.015 (2/134, Korea1K)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: HLA-F-AS1 : 2KB Upstream Variant
IFITM4P : 500B Downstream Variant
LOC107987440 : 2KB Upstream Variant (+ 2 more)
LOC107987443 : 2KB Upstream Variant
LOC107987452 : 2KB Upstream Variant
Publications: 0 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	6608	TTTTTTTTTTTTT=0.6719	TTTTTTTTTT=0.0003, TTTTTTTTTTT=0.2744, TTTTTTTTTTTT=0.0534, TTTTTTTTTTTTTT=0.0000	0.564396	0.126096	0.309508	32
European	Sub	5920	TTTTTTTTTTTTT=0.6345	TTTTTTTTTT=0.0003, TTTTTTTTTTT=0.3056, TTTTTTTTTTTT=0.0596, TTTTTTTTTTTTTT=0.0000	0.508391	0.142258	0.349352	32
African	Sub	468	TTTTTTTTTTTTT=1.000	TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	8	TTTTTTTTTTTTT=1.0	TTTTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
African American	Sub	460	TTTTTTTTTTTTT=1.000	TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	6	TTTTTTTTTTTTT=1.0	TTTTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
East Asian	Sub	6	TTTTTTTTTTTTT=1.0	TTTTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Other Asian	Sub	0	TTTTTTTTTTTTT=0	TTTTTTTTTT=0, TTTTTTTTTTT=0, TTTTTTTTTTTT=0, TTTTTTTTTTTTTT=0	0	0	0	N/A
Latin American 1	Sub	36	TTTTTTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	82	TTTTTTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	6	TTTTTTTTTTTTT=1.0	TTTTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Other	Sub	90	TTTTTTTTTTTTT=0.96	TTTTTTTTTT=0.00, TTTTTTTTTTT=0.04, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00	0.933333	0.022222	0.044444	6

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	6608	(T)₁₃=0.6719	delTTT=0.0003, delTT=0.2744, delT=0.0534, dupT=0.0000
Allele Frequency Aggregator	European	Sub	5920	(T)₁₃=0.6345	delTTT=0.0003, delTT=0.3056, delT=0.0596, dupT=0.0000
Allele Frequency Aggregator	African	Sub	468	(T)₁₃=1.000	delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000
Allele Frequency Aggregator	Other	Sub	90	(T)₁₃=0.96	delTTT=0.00, delTT=0.04, delT=0.00, dupT=0.00
Allele Frequency Aggregator	Latin American 2	Sub	82	(T)₁₃=1.00	delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00
Allele Frequency Aggregator	Latin American 1	Sub	36	(T)₁₃=1.00	delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00
Allele Frequency Aggregator	South Asian	Sub	6	(T)₁₃=1.0	delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0
Allele Frequency Aggregator	Asian	Sub	6	(T)₁₃=1.0	delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0
1000Genomes	Global	Study-wide	4134	(T)₁₃=0.4867	delTT=0.5133
1000Genomes	African	Sub	1117	(T)₁₃=0.5264	delTT=0.4736
1000Genomes	Europe	Sub	901	(T)₁₃=0.518	delTT=0.482
1000Genomes	South Asian	Sub	754	(T)₁₃=0.377	delTT=0.623
1000Genomes	East Asian	Sub	727	(T)₁₃=0.558	delTT=0.442
1000Genomes	American	Sub	635	(T)₁₃=0.420	delTT=0.580
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	(T)₁₃=0.5363	delTT=0.4637
Korean Genome Project	KOREAN	Study-wide	134	- No frequency provided	dupT=0.015

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 6	NC_000006.12:g.29750563_29750565del
GRCh38.p14 chr 6	NC_000006.12:g.29750564_29750565del
GRCh38.p14 chr 6	NC_000006.12:g.29750565del
GRCh38.p14 chr 6	NC_000006.12:g.29750565dup
GRCh38.p14 chr 6	NC_000006.12:g.29750564_29750565dup
GRCh37.p13 chr 6	NC_000006.11:g.29718340_29718342del
GRCh37.p13 chr 6	NC_000006.11:g.29718341_29718342del
GRCh37.p13 chr 6	NC_000006.11:g.29718342del
GRCh37.p13 chr 6	NC_000006.11:g.29718342dup
GRCh37.p13 chr 6	NC_000006.11:g.29718341_29718342dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.1234407_1234408dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.1234408del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.1234408dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.1234406_1234408dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.1234405_1234408dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.1013605_1013606dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.1013606del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.1013606dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.1013604_1013606dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.1013603_1013606dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.1013631_1013632dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.1013632del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.1013632dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.1013630_1013632dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.1013629_1013632dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.1056791dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.1056790_1056791del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.1056791del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.1056790_1056791dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.1056789_1056791dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.1013226_1013227dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.1013227del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.1013227dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.1013225_1013227dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.1013224_1013227dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.1013289_1013291del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.1013290_1013291del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.1013291del
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.1013291dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.1013290_1013291dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.1018874_1018876del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.1018875_1018876del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.1018876del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.1018876dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.1018875_1018876dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.1234513_1234514dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.1234514del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.1234514dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.1234512_1234514dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.1234511_1234514dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.1019201_1019202dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.1019202del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.1019202dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.1019200_1019202dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.1019199_1019202dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.1019216_1019217dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.1019217del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.1019217dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.1019215_1019217dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.1019214_1019217dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.1056089dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.1056088_1056089del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.1056089del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.1056088_1056089dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.1056087_1056089dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.1018846_1018847dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.1018847del
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.1018847dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.1018845_1018847dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.1018844_1018847dup

Gene: IFITM4P, interferon induced transmembrane protein 4 pseudogene (minus strand) : 500B Downstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
IFITM4P transcript	NR_001590.1:n.	N/A	Downstream Transcript Variant

Gene: HLA-F-AS1, HLA-F antisense RNA 1 (minus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
HLA-F-AS1 transcript variant 1	NR_026972.1:n.	N/A	Upstream Transcript Variant
HLA-F-AS1 transcript variant 2	NR_026973.1:n.	N/A	Upstream Transcript Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	(T)₁₃=	delTTT	delTT	delT	dupT	dupTT
GRCh38.p14 chr 6	NC_000006.12:g.29750553_29750565=	NC_000006.12:g.29750563_29750565del	NC_000006.12:g.29750564_29750565del	NC_000006.12:g.29750565del	NC_000006.12:g.29750565dup	NC_000006.12:g.29750564_29750565dup
GRCh37.p13 chr 6	NC_000006.11:g.29718330_29718342=	NC_000006.11:g.29718340_29718342del	NC_000006.11:g.29718341_29718342del	NC_000006.11:g.29718342del	NC_000006.11:g.29718342dup	NC_000006.11:g.29718341_29718342dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.1234407_1234408dup	NT_113891.3:g.1234408del	NT_113891.3:g.1234398_1234408=	NT_113891.3:g.1234408dup	NT_113891.3:g.1234406_1234408dup	NT_113891.3:g.1234405_1234408dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.1013605_1013606dup	NT_167248.2:g.1013606del	NT_167248.2:g.1013596_1013606=	NT_167248.2:g.1013606dup	NT_167248.2:g.1013604_1013606dup	NT_167248.2:g.1013603_1013606dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.1013631_1013632dup	NT_167245.2:g.1013632del	NT_167245.2:g.1013622_1013632=	NT_167245.2:g.1013632dup	NT_167245.2:g.1013630_1013632dup	NT_167245.2:g.1013629_1013632dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.1056791dup	NT_167249.2:g.1056790_1056791del	NT_167249.2:g.1056791del	NT_167249.2:g.1056780_1056791=	NT_167249.2:g.1056790_1056791dup	NT_167249.2:g.1056789_1056791dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.1013226_1013227dup	NT_167246.2:g.1013227del	NT_167246.2:g.1013217_1013227=	NT_167246.2:g.1013227dup	NT_167246.2:g.1013225_1013227dup	NT_167246.2:g.1013224_1013227dup
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.1013279_1013291=	NT_167247.2:g.1013289_1013291del	NT_167247.2:g.1013290_1013291del	NT_167247.2:g.1013291del	NT_167247.2:g.1013291dup	NT_167247.2:g.1013290_1013291dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.1018864_1018876=	NT_167247.1:g.1018874_1018876del	NT_167247.1:g.1018875_1018876del	NT_167247.1:g.1018876del	NT_167247.1:g.1018876dup	NT_167247.1:g.1018875_1018876dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.1234513_1234514dup	NT_113891.2:g.1234514del	NT_113891.2:g.1234504_1234514=	NT_113891.2:g.1234514dup	NT_113891.2:g.1234512_1234514dup	NT_113891.2:g.1234511_1234514dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.1019201_1019202dup	NT_167248.1:g.1019202del	NT_167248.1:g.1019192_1019202=	NT_167248.1:g.1019202dup	NT_167248.1:g.1019200_1019202dup	NT_167248.1:g.1019199_1019202dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.1019216_1019217dup	NT_167245.1:g.1019217del	NT_167245.1:g.1019207_1019217=	NT_167245.1:g.1019217dup	NT_167245.1:g.1019215_1019217dup	NT_167245.1:g.1019214_1019217dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.1056089dup	NT_167249.1:g.1056088_1056089del	NT_167249.1:g.1056089del	NT_167249.1:g.1056078_1056089=	NT_167249.1:g.1056088_1056089dup	NT_167249.1:g.1056087_1056089dup
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.1018846_1018847dup	NT_167246.1:g.1018847del	NT_167246.1:g.1018837_1018847=	NT_167246.1:g.1018847dup	NT_167246.1:g.1018845_1018847dup	NT_167246.1:g.1018844_1018847dup

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#.

63 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	MHCSNP	ss2419152	Oct 12, 2018 (152)
2	TSC-CSHL	ss4284117	Jul 19, 2016 (147)
3	TSC-CSHL	ss5322379	Oct 12, 2018 (152)
4	SI_MHC_SNP	ss12704565	Oct 12, 2018 (152)
5	ABI	ss42655619	Mar 15, 2016 (147)
6	HGSV	ss82345194	Aug 21, 2014 (142)
7	HUMANGENOME_JCVI	ss98452735	Mar 15, 2016 (147)
8	BUSHMAN	ss193853225	Mar 15, 2016 (147)
9	GMI	ss287790297	Mar 15, 2016 (147)
10	GMI	ss288692315	May 04, 2012 (137)
11	GMI	ss288692316	May 04, 2012 (137)
12	PJP	ss295272159	May 09, 2011 (134)
13	SSMP	ss663685872	Apr 01, 2015 (144)
14	BILGI_BIOE	ss666348431	Apr 25, 2013 (138)
15	1000GENOMES	ss1375306268	Aug 21, 2014 (144)
16	1000GENOMES	ss1375306272	Aug 21, 2014 (142)
17	EVA_UK10K_ALSPAC	ss1705098956	Apr 01, 2015 (144)
18	EVA_UK10K_TWINSUK	ss1705099496	Apr 01, 2015 (144)
19	EVA_UK10K_ALSPAC	ss1710261257	Apr 01, 2015 (144)
20	EVA_UK10K_TWINSUK	ss1710261262	Apr 01, 2015 (144)
21	HAMMER_LAB	ss1804342031	Sep 08, 2015 (146)
22	HAMMER_LAB	ss1804342032	Sep 08, 2015 (146)
23	TMC_SNPDB	ss1997187478	Jul 19, 2016 (147)
24	SWEGEN	ss2998747767	Nov 08, 2017 (151)
25	MCHAISSO	ss3065075518	Nov 08, 2017 (151)
26	MCHAISSO	ss3066071844	Nov 08, 2017 (151)
27	BIOINF_KMB_FNS_UNIBA	ss3645941515	Oct 12, 2018 (152)
28	URBANLAB	ss3648300963	Oct 12, 2018 (152)
29	EVA_DECODE	ss3716862471	Jul 13, 2019 (153)
30	EVA_DECODE	ss3716862472	Jul 13, 2019 (153)
31	EVA_DECODE	ss3716862473	Jul 13, 2019 (153)
32	ACPOP	ss3733329715	Jul 13, 2019 (153)
33	ACPOP	ss3733329716	Jul 13, 2019 (153)
34	PACBIO	ss3785412988	Jul 13, 2019 (153)
35	PACBIO	ss3785412989	Jul 13, 2019 (153)
36	PACBIO	ss3790772924	Jul 13, 2019 (153)
37	PACBIO	ss3795650283	Jul 13, 2019 (153)
38	KHV_HUMAN_GENOMES	ss3807944696	Jul 13, 2019 (153)
39	KHV_HUMAN_GENOMES	ss3807944697	Jul 13, 2019 (153)
40	EVA	ss3829809540	Apr 26, 2020 (154)
41	KOGIC	ss3958751307	Apr 26, 2020 (154)
42	VINODS	ss4025177491	Apr 26, 2021 (155)
43	VINODS	ss4025200218	Apr 26, 2021 (155)
44	VINODS	ss4025256557	Apr 26, 2021 (155)
45	VINODS	ss4025278213	Apr 26, 2021 (155)
46	GNOMAD	ss4139173352	Apr 26, 2021 (155)
47	GNOMAD	ss4139173353	Apr 26, 2021 (155)
48	GNOMAD	ss4139173354	Apr 26, 2021 (155)
49	TOMMO_GENOMICS	ss5176756050	Apr 26, 2021 (155)
50	TOMMO_GENOMICS	ss5176756051	Apr 26, 2021 (155)
51	TOMMO_GENOMICS	ss5176756052	Apr 26, 2021 (155)
52	1000G_HIGH_COVERAGE	ss5267874159	Oct 13, 2022 (156)
53	1000G_HIGH_COVERAGE	ss5267874160	Oct 13, 2022 (156)
54	1000G_HIGH_COVERAGE	ss5267874161	Oct 13, 2022 (156)
55	HUGCELL_USP	ss5465622222	Oct 13, 2022 (156)
56	HUGCELL_USP	ss5465622223	Oct 13, 2022 (156)
57	TOMMO_GENOMICS	ss5714591423	Oct 13, 2022 (156)
58	TOMMO_GENOMICS	ss5714591424	Oct 13, 2022 (156)
59	TOMMO_GENOMICS	ss5714591425	Oct 13, 2022 (156)
60	TOMMO_GENOMICS	ss5714591426	Oct 13, 2022 (156)
61	EVA	ss5841989572	Oct 13, 2022 (156)
62	EVA	ss5841989573	Oct 13, 2022 (156)
63	EVA	ss5980352137	Oct 13, 2022 (156)
64	1000Genomes	NC_000006.11 - 29718330	Oct 12, 2018 (152)
65	The Avon Longitudinal Study of Parents and Children	NC_000006.11 - 29718330	Oct 12, 2018 (152)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 220867589 (NC_000006.12:29750552::T 94/138128) Row 220867590 (NC_000006.12:29750552:T: 16361/137904) Row 220867591 (NC_000006.12:29750552:TT: 61466/138048)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 220867589 (NC_000006.12:29750552::T 94/138128) Row 220867590 (NC_000006.12:29750552:T: 16361/137904) Row 220867591 (NC_000006.12:29750552:TT: 61466/138048)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 220867589 (NC_000006.12:29750552::T 94/138128) Row 220867590 (NC_000006.12:29750552:T: 16361/137904) Row 220867591 (NC_000006.12:29750552:TT: 61466/138048)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 220867589 (NC_000006.12:29750552::T 94/138128) Row 220867590 (NC_000006.12:29750552:T: 16361/137904) Row 220867591 (NC_000006.12:29750552:TT: 61466/138048)...	-	Apr 26, 2021 (155)
70	Korean Genome Project	NC_000006.12 - 29750553	Apr 26, 2020 (154)
71	Northern Sweden Submission ignored due to conflicting rows: Row 6614580 (NC_000006.11:29718329:TT: 248/600) Row 6614581 (NC_000006.11:29718329:T: 51/600)	-	Jul 13, 2019 (153)
72	Northern Sweden Submission ignored due to conflicting rows: Row 6614580 (NC_000006.11:29718329:TT: 248/600) Row 6614581 (NC_000006.11:29718329:T: 51/600)	-	Jul 13, 2019 (153)
73	8.3KJPN Submission ignored due to conflicting rows: Row 34725357 (NC_000006.11:29718329:TT: 8196/16760) Row 34725358 (NC_000006.11:29718329:T: 3387/16760) Row 34725359 (NC_000006.11:29718329::T 8/16760)	-	Apr 26, 2021 (155)
74	8.3KJPN Submission ignored due to conflicting rows: Row 34725357 (NC_000006.11:29718329:TT: 8196/16760) Row 34725358 (NC_000006.11:29718329:T: 3387/16760) Row 34725359 (NC_000006.11:29718329::T 8/16760)	-	Apr 26, 2021 (155)
75	8.3KJPN Submission ignored due to conflicting rows: Row 34725357 (NC_000006.11:29718329:TT: 8196/16760) Row 34725358 (NC_000006.11:29718329:T: 3387/16760) Row 34725359 (NC_000006.11:29718329::T 8/16760)	-	Apr 26, 2021 (155)
76	14KJPN Submission ignored due to conflicting rows: Row 48428527 (NC_000006.12:29750552:TT: 13873/28258) Row 48428528 (NC_000006.12:29750552:T: 5613/28258) Row 48428529 (NC_000006.12:29750552:TTT: 13/28258)...	-	Oct 13, 2022 (156)
77	14KJPN Submission ignored due to conflicting rows: Row 48428527 (NC_000006.12:29750552:TT: 13873/28258) Row 48428528 (NC_000006.12:29750552:T: 5613/28258) Row 48428529 (NC_000006.12:29750552:TTT: 13/28258)...	-	Oct 13, 2022 (156)
78	14KJPN Submission ignored due to conflicting rows: Row 48428527 (NC_000006.12:29750552:TT: 13873/28258) Row 48428528 (NC_000006.12:29750552:T: 5613/28258) Row 48428529 (NC_000006.12:29750552:TTT: 13/28258)...	-	Oct 13, 2022 (156)
79	14KJPN Submission ignored due to conflicting rows: Row 48428527 (NC_000006.12:29750552:TT: 13873/28258) Row 48428528 (NC_000006.12:29750552:T: 5613/28258) Row 48428529 (NC_000006.12:29750552:TTT: 13/28258)...	-	Oct 13, 2022 (156)
80	UK 10K study - Twins	-	Oct 12, 2018 (152)
81	UK 10K study - Twins Submission ignored due to conflicting rows: Row 17427364 (NC_000006.11:29718329:TT: 1787/3708) Row 17427365 (NC_000006.11:29718330:T: 347/3708)	-	Apr 26, 2020 (154)
82	ALFA	NC_000006.12 - 29750553	Apr 26, 2021 (155)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID	History Updated (Build)
rs112851960	Sep 17, 2011 (135)
rs537441657	Jul 01, 2015 (144)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss82345194	NC_000006.9:29826318:TTT:	NC_000006.12:29750552:TTTTTTTTTTTT… NC_000006.12:29750552:TTTTTTTTTTTTT:TTTTTTTTTT	(self)
ss3785412988	NC_000006.11:29718329:TTT:	NC_000006.12:29750552:TTTTTTTTTTTT… NC_000006.12:29750552:TTTTTTTTTTTTT:TTTTTTTTTT	(self)
ss3716862471, ss4139173354, ss5714591425	NC_000006.12:29750552:TTT:	NC_000006.12:29750552:TTTTTTTTTTTT… NC_000006.12:29750552:TTTTTTTTTTTTT:TTTTTTTTTT	(self)
2389315323	NC_000006.12:29750552:TTTTTTTTTTTT… NC_000006.12:29750552:TTTTTTTTTTTTT:TTTTTTTTTT	NC_000006.12:29750552:TTTTTTTTTTTT… NC_000006.12:29750552:TTTTTTTTTTTTT:TTTTTTTTTT	(self)
ss288692315, ss295272159	NC_000006.10:29826308:TT:	NC_000006.12:29750552:TTTTTTTTTTTT… NC_000006.12:29750552:TTTTTTTTTTTTT:TTTTTTTTTTT	(self)
31260825, 17427364, ss663685872, ss666348431, ss1375306268, ss1705098956, ss1705099496, ss1804342032, ss2998747767, ss3733329715, ss3785412989, ss3790772924, ss3795650283, ss3829809540, ss5176756050, ss5841989572	NC_000006.11:29718329:TT:	NC_000006.12:29750552:TTTTTTTTTTTT… NC_000006.12:29750552:TTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss3065075518, ss3066071844, ss3645941515, ss3648300963, ss3807944697, ss4139173353, ss5267874159, ss5465622222, ss5714591423	NC_000006.12:29750552:TT:	NC_000006.12:29750552:TTTTTTTTTTTT… NC_000006.12:29750552:TTTTTTTTTTTTT:TTTTTTTTTTT	(self)
2389315323	NC_000006.12:29750552:TTTTTTTTTTTT… NC_000006.12:29750552:TTTTTTTTTTTTT:TTTTTTTTTTT	NC_000006.12:29750552:TTTTTTTTTTTT… NC_000006.12:29750552:TTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss3716862472	NC_000006.12:29750553:TT:	NC_000006.12:29750552:TTTTTTTTTTTT… NC_000006.12:29750552:TTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss42655619, ss98452735, ss193853225, ss287790297	NT_007592.15:29658329:TT:	NC_000006.12:29750552:TTTTTTTTTTTT… NC_000006.12:29750552:TTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss2419152, ss4284117, ss5322379, ss12704565	NT_007592.15:29658340:TT:	NC_000006.12:29750552:TTTTTTTTTTTT… NC_000006.12:29750552:TTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss288692316	NC_000006.10:29826308:T:	NC_000006.12:29750552:TTTTTTTTTTTT… NC_000006.12:29750552:TTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss1804342031, ss3733329716, ss5176756051, ss5841989573, ss5980352137	NC_000006.11:29718329:T:	NC_000006.12:29750552:TTTTTTTTTTTT… NC_000006.12:29750552:TTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss1375306272, ss1710261257, ss1710261262, ss1997187478	NC_000006.11:29718330:T:	NC_000006.12:29750552:TTTTTTTTTTTT… NC_000006.12:29750552:TTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss5267874160, ss5465622223, ss5714591424	NC_000006.12:29750552:T:	NC_000006.12:29750552:TTTTTTTTTTTT… NC_000006.12:29750552:TTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
2389315323	NC_000006.12:29750552:TTTTTTTTTTTT… NC_000006.12:29750552:TTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000006.12:29750552:TTTTTTTTTTTT… NC_000006.12:29750552:TTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss3807944696	NC_000006.12:29750553:T:	NC_000006.12:29750552:TTTTTTTTTTTT… NC_000006.12:29750552:TTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss3716862473	NC_000006.12:29750554:T:	NC_000006.12:29750552:TTTTTTTTTTTT… NC_000006.12:29750552:TTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss2419152	NT_007592.15:29658340:TT:T	NC_000006.12:29750552:TTTTTTTTTTTT… NC_000006.12:29750552:TTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss5176756052	NC_000006.11:29718329::T	NC_000006.12:29750552:TTTTTTTTTTTT… NC_000006.12:29750552:TTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
15129308, ss3958751307, ss4139173352, ss5267874161, ss5714591426	NC_000006.12:29750552::T	NC_000006.12:29750552:TTTTTTTTTTTT… NC_000006.12:29750552:TTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
2389315323	NC_000006.12:29750552:TTTTTTTTTTTT… NC_000006.12:29750552:TTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000006.12:29750552:TTTTTTTTTTTT… NC_000006.12:29750552:TTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss4025278213	NT_167249.2:1056779::T	NC_000006.12:29750552:TTTTTTTTTTTT… NC_000006.12:29750552:TTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss4025177491	NT_113891.3:1234397::TT	NC_000006.12:29750552:TTTTTTTTTTTT… NC_000006.12:29750552:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss4025200218	NT_167245.2:1013621::TT	NC_000006.12:29750552:TTTTTTTTTTTT… NC_000006.12:29750552:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss4025256557	NT_167248.2:1013595::TT	NC_000006.12:29750552:TTTTTTTTTTTT… NC_000006.12:29750552:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(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 rs34680752

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

rs34680752