Name: rs1554214192
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.

rs1554214192

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:32370856-32370870 (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: delGAGA / delGA / dupGA / dupGAGA …
delGAGA / delGA / dupGA / dupGAGA / dup(GA)₃ / dup(GA)₄ / dup(GA)₅
Variation Type: Indel Insertion and Deletion
Frequency: dup(GA)₃=0.1103 (852/7721, ALFA)
dup(GA)₃=0.2452 (945/3854, ALSPAC)
dup(GA)₃=0.2203 (817/3708, TWINSUK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: TSBP1 : Intron Variant
TSBP1-AS1 : 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	7721	AGAGAGAGAGAGAGA=0.7560	AGAGAGAGAGA=0.0000, AGAGAGAGAGAGA=0.0000, AGAGAGAGAGAGAGAGA=0.0308, AGAGAGAGAGAGAGAGAGAGA=0.1103, AGAGAGAGAGAGAGAGAGA=0.1028, AGAGAGAGAGAGAGAGAGAGAGA=0.0000, AGAGAGAGAGAGAGAGAGAGAGAGA=0.0000	0.902743	0.030994	0.066263	32
European	Sub	6238	AGAGAGAGAGAGAGA=0.6985	AGAGAGAGAGA=0.0000, AGAGAGAGAGAGA=0.0000, AGAGAGAGAGAGAGAGA=0.0382, AGAGAGAGAGAGAGAGAGAGA=0.1363, AGAGAGAGAGAGAGAGAGA=0.1271, AGAGAGAGAGAGAGAGAGAGAGA=0.0000, AGAGAGAGAGAGAGAGAGAGAGAGA=0.0000	0.867925	0.04209	0.089985	32
African	Sub	888	AGAGAGAGAGAGAGA=1.000	AGAGAGAGAGA=0.000, AGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	34	AGAGAGAGAGAGAGA=1.00	AGAGAGAGAGA=0.00, AGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGA=0.00	1.0	0.0	0.0	N/A
African American	Sub	854	AGAGAGAGAGAGAGA=1.000	AGAGAGAGAGA=0.000, AGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	26	AGAGAGAGAGAGAGA=1.00	AGAGAGAGAGA=0.00, AGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	22	AGAGAGAGAGAGAGA=1.00	AGAGAGAGAGA=0.00, AGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	4	AGAGAGAGAGAGAGA=1.0	AGAGAGAGAGA=0.0, AGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGA=0.0, AGAGAGAGAGAGAGAGAGAGAGAGA=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	58	AGAGAGAGAGAGAGA=1.00	AGAGAGAGAGA=0.00, AGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	308	AGAGAGAGAGAGAGA=1.000	AGAGAGAGAGA=0.000, AGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	32	AGAGAGAGAGAGAGA=1.00	AGAGAGAGAGA=0.00, AGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGA=0.00, AGAGAGAGAGAGAGAGAGAGAGAGA=0.00	1.0	0.0	0.0	N/A
Other	Sub	171	AGAGAGAGAGAGAGA=0.982	AGAGAGAGAGA=0.000, AGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGA=0.012, AGAGAGAGAGAGAGAGAGA=0.006, AGAGAGAGAGAGAGAGAGAGAGA=0.000, AGAGAGAGAGAGAGAGAGAGAGAGA=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	7721	(AG)₇A=0.7560	delGAGA=0.0000, delGA=0.0000, dupGA=0.0308, dupGAGA=0.1028, dup(GA)₃=0.1103, dup(GA)₄=0.0000, dup(GA)₅=0.0000
Allele Frequency Aggregator	European	Sub	6238	(AG)₇A=0.6985	delGAGA=0.0000, delGA=0.0000, dupGA=0.0382, dupGAGA=0.1271, dup(GA)₃=0.1363, dup(GA)₄=0.0000, dup(GA)₅=0.0000
Allele Frequency Aggregator	African	Sub	888	(AG)₇A=1.000	delGAGA=0.000, delGA=0.000, dupGA=0.000, dupGAGA=0.000, dup(GA)₃=0.000, dup(GA)₄=0.000, dup(GA)₅=0.000
Allele Frequency Aggregator	Latin American 2	Sub	308	(AG)₇A=1.000	delGAGA=0.000, delGA=0.000, dupGA=0.000, dupGAGA=0.000, dup(GA)₃=0.000, dup(GA)₄=0.000, dup(GA)₅=0.000
Allele Frequency Aggregator	Other	Sub	171	(AG)₇A=0.982	delGAGA=0.000, delGA=0.000, dupGA=0.000, dupGAGA=0.006, dup(GA)₃=0.012, dup(GA)₄=0.000, dup(GA)₅=0.000
Allele Frequency Aggregator	Latin American 1	Sub	58	(AG)₇A=1.00	delGAGA=0.00, delGA=0.00, dupGA=0.00, dupGAGA=0.00, dup(GA)₃=0.00, dup(GA)₄=0.00, dup(GA)₅=0.00
Allele Frequency Aggregator	South Asian	Sub	32	(AG)₇A=1.00	delGAGA=0.00, delGA=0.00, dupGA=0.00, dupGAGA=0.00, dup(GA)₃=0.00, dup(GA)₄=0.00, dup(GA)₅=0.00
Allele Frequency Aggregator	Asian	Sub	26	(AG)₇A=1.00	delGAGA=0.00, delGA=0.00, dupGA=0.00, dupGAGA=0.00, dup(GA)₃=0.00, dup(GA)₄=0.00, dup(GA)₅=0.00
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	- No frequency provided	dup(GA)₃=0.2452
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	- No frequency provided	dup(GA)₃=0.2203

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.32370857GA[5]
GRCh38.p14 chr 6	NC_000006.12:g.32370857GA[6]
GRCh38.p14 chr 6	NC_000006.12:g.32370857GA[8]
GRCh38.p14 chr 6	NC_000006.12:g.32370857GA[9]
GRCh38.p14 chr 6	NC_000006.12:g.32370857GA[10]
GRCh38.p14 chr 6	NC_000006.12:g.32370857GA[11]
GRCh38.p14 chr 6	NC_000006.12:g.32370857GA[12]
GRCh37.p13 chr 6	NC_000006.11:g.32338634GA[5]
GRCh37.p13 chr 6	NC_000006.11:g.32338634GA[6]
GRCh37.p13 chr 6	NC_000006.11:g.32338634GA[8]
GRCh37.p13 chr 6	NC_000006.11:g.32338634GA[9]
GRCh37.p13 chr 6	NC_000006.11:g.32338634GA[10]
GRCh37.p13 chr 6	NC_000006.11:g.32338634GA[11]
GRCh37.p13 chr 6	NC_000006.11:g.32338634GA[12]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.3808983GA[8]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.3808983GA[9]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.3808983GA[11]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.3808983GA[12]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.3808983GA[13]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.3808983GA[14]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.3808983GA[15]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.3809089GA[8]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.3809089GA[9]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.3809089GA[11]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.3809089GA[12]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.3809089GA[13]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.3809089GA[14]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.3809089GA[15]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3593901GA[8]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3593901GA[9]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3593901GA[11]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3593901GA[12]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3593901GA[13]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3593901GA[14]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3593901GA[15]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3599497GA[8]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3599497GA[9]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3599497GA[11]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3599497GA[12]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3599497GA[13]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3599497GA[14]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3599497GA[15]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3611966GA[8]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3611966GA[9]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3611966GA[11]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3611966GA[12]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3611966GA[13]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3611966GA[14]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3611966GA[15]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3617551GA[8]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3617551GA[9]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3617551GA[11]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3617551GA[12]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3617551GA[13]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3617551GA[14]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3617551GA[15]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.3686807GA[5]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.3686807GA[6]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.3686807GA[8]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.3686807GA[9]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.3686807GA[10]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.3686807GA[11]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.3686807GA[12]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.3686105GA[5]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.3686105GA[6]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.3686105GA[8]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.3686105GA[9]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.3686105GA[10]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.3686105GA[11]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.3686105GA[12]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.3675853GA[5]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.3675853GA[6]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.3675853GA[8]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.3675853GA[9]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.3675853GA[10]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.3675853GA[11]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.3675853GA[12]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.3681473GA[5]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.3681473GA[6]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.3681473GA[8]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.3681473GA[9]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.3681473GA[10]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.3681473GA[11]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.3681473GA[12]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3712635GA[5]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3712635GA[6]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3712635GA[8]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3712635GA[9]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3712635GA[10]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3712635GA[11]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3712635GA[12]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.3718220GA[5]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.3718220GA[6]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.3718220GA[8]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.3718220GA[9]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.3718220GA[10]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.3718220GA[11]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.3718220GA[12]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.2:g.3703104GA[5]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.2:g.3703104GA[6]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.2:g.3703104GA[8]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.2:g.3703104GA[9]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.2:g.3703104GA[10]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.2:g.3703104GA[11]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.2:g.3703104GA[12]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.1:g.3653020GA[5]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.1:g.3653020GA[6]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.1:g.3653020GA[8]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.1:g.3653020GA[9]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.1:g.3653020GA[10]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.1:g.3653020GA[11]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.1:g.3653020GA[12]

Gene: TSBP1, testis expressed basic protein 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TSBP1 transcript variant 2	NM_001286474.2:c.13+825CT… NM_001286474.2:c.13+825CT[5]	N/A	Intron Variant
TSBP1 transcript variant 3	NM_001286475.2:c.13+825CT… NM_001286475.2:c.13+825CT[5]	N/A	Intron Variant
TSBP1 transcript variant 1	NM_006781.5:c.13+825CT[5]	N/A	Intron Variant
TSBP1 transcript variant X2	XM_024446307.2:c.13+825CT… XM_024446307.2:c.13+825CT[5]	N/A	Intron Variant
TSBP1 transcript variant X1	XM_017010182.2:c.	N/A	Genic Upstream Transcript Variant

Gene: TSBP1-AS1, TSBP1 and BTNL2 antisense RNA 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TSBP1-AS1 transcript variant 1	NR_136244.1:n.	N/A	Intron Variant
TSBP1-AS1 transcript variant 2	NR_136245.1:n.	N/A	Intron Variant
TSBP1-AS1 transcript variant 3	NR_136246.1:n.	N/A	Genic Downstream 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	(AG)₇A=	delGAGA	delGA	dupGA	dupGAGA	dup(GA)₃	dup(GA)₄	dup(GA)₅
GRCh38.p14 chr 6	NC_000006.12:g.32370856_32370870=	NC_000006.12:g.32370857GA[5]	NC_000006.12:g.32370857GA[6]	NC_000006.12:g.32370857GA[8]	NC_000006.12:g.32370857GA[9]	NC_000006.12:g.32370857GA[10]	NC_000006.12:g.32370857GA[11]	NC_000006.12:g.32370857GA[12]
GRCh37.p13 chr 6	NC_000006.11:g.32338633_32338647=	NC_000006.11:g.32338634GA[5]	NC_000006.11:g.32338634GA[6]	NC_000006.11:g.32338634GA[8]	NC_000006.11:g.32338634GA[9]	NC_000006.11:g.32338634GA[10]	NC_000006.11:g.32338634GA[11]	NC_000006.11:g.32338634GA[12]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.3:g.3808982_3809002=	NT_113891.3:g.3808983GA[8]	NT_113891.3:g.3808983GA[9]	NT_113891.3:g.3808983GA[11]	NT_113891.3:g.3808983GA[12]	NT_113891.3:g.3808983GA[13]	NT_113891.3:g.3808983GA[14]	NT_113891.3:g.3808983GA[15]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_COX_CTG1	NT_113891.2:g.3809088_3809108=	NT_113891.2:g.3809089GA[8]	NT_113891.2:g.3809089GA[9]	NT_113891.2:g.3809089GA[11]	NT_113891.2:g.3809089GA[12]	NT_113891.2:g.3809089GA[13]	NT_113891.2:g.3809089GA[14]	NT_113891.2:g.3809089GA[15]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.2:g.3593900_3593920=	NT_167248.2:g.3593901GA[8]	NT_167248.2:g.3593901GA[9]	NT_167248.2:g.3593901GA[11]	NT_167248.2:g.3593901GA[12]	NT_167248.2:g.3593901GA[13]	NT_167248.2:g.3593901GA[14]	NT_167248.2:g.3593901GA[15]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_QBL_CTG1	NT_167248.1:g.3599496_3599516=	NT_167248.1:g.3599497GA[8]	NT_167248.1:g.3599497GA[9]	NT_167248.1:g.3599497GA[11]	NT_167248.1:g.3599497GA[12]	NT_167248.1:g.3599497GA[13]	NT_167248.1:g.3599497GA[14]	NT_167248.1:g.3599497GA[15]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.2:g.3611965_3611985=	NT_167245.2:g.3611966GA[8]	NT_167245.2:g.3611966GA[9]	NT_167245.2:g.3611966GA[11]	NT_167245.2:g.3611966GA[12]	NT_167245.2:g.3611966GA[13]	NT_167245.2:g.3611966GA[14]	NT_167245.2:g.3611966GA[15]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_DBB_CTG1	NT_167245.1:g.3617550_3617570=	NT_167245.1:g.3617551GA[8]	NT_167245.1:g.3617551GA[9]	NT_167245.1:g.3617551GA[11]	NT_167245.1:g.3617551GA[12]	NT_167245.1:g.3617551GA[13]	NT_167245.1:g.3617551GA[14]	NT_167245.1:g.3617551GA[15]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.2:g.3686806_3686820=	NT_167249.2:g.3686807GA[5]	NT_167249.2:g.3686807GA[6]	NT_167249.2:g.3686807GA[8]	NT_167249.2:g.3686807GA[9]	NT_167249.2:g.3686807GA[10]	NT_167249.2:g.3686807GA[11]	NT_167249.2:g.3686807GA[12]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_SSTO_CTG1	NT_167249.1:g.3686104_3686118=	NT_167249.1:g.3686105GA[5]	NT_167249.1:g.3686105GA[6]	NT_167249.1:g.3686105GA[8]	NT_167249.1:g.3686105GA[9]	NT_167249.1:g.3686105GA[10]	NT_167249.1:g.3686105GA[11]	NT_167249.1:g.3686105GA[12]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.2:g.3675852_3675866=	NT_167246.2:g.3675853GA[5]	NT_167246.2:g.3675853GA[6]	NT_167246.2:g.3675853GA[8]	NT_167246.2:g.3675853GA[9]	NT_167246.2:g.3675853GA[10]	NT_167246.2:g.3675853GA[11]	NT_167246.2:g.3675853GA[12]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MANN_CTG1	NT_167246.1:g.3681472_3681486=	NT_167246.1:g.3681473GA[5]	NT_167246.1:g.3681473GA[6]	NT_167246.1:g.3681473GA[8]	NT_167246.1:g.3681473GA[9]	NT_167246.1:g.3681473GA[10]	NT_167246.1:g.3681473GA[11]	NT_167246.1:g.3681473GA[12]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.2:g.3712634_3712648=	NT_167247.2:g.3712635GA[5]	NT_167247.2:g.3712635GA[6]	NT_167247.2:g.3712635GA[8]	NT_167247.2:g.3712635GA[9]	NT_167247.2:g.3712635GA[10]	NT_167247.2:g.3712635GA[11]	NT_167247.2:g.3712635GA[12]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_MCF_CTG1	NT_167247.1:g.3718219_3718233=	NT_167247.1:g.3718220GA[5]	NT_167247.1:g.3718220GA[6]	NT_167247.1:g.3718220GA[8]	NT_167247.1:g.3718220GA[9]	NT_167247.1:g.3718220GA[10]	NT_167247.1:g.3718220GA[11]	NT_167247.1:g.3718220GA[12]
GRCh38.p14 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.2:g.3703103_3703117=	NT_167244.2:g.3703104GA[5]	NT_167244.2:g.3703104GA[6]	NT_167244.2:g.3703104GA[8]	NT_167244.2:g.3703104GA[9]	NT_167244.2:g.3703104GA[10]	NT_167244.2:g.3703104GA[11]	NT_167244.2:g.3703104GA[12]
GRCh37.p13 chr 6 alt locus HSCHR6_MHC_APD_CTG1	NT_167244.1:g.3653019_3653033=	NT_167244.1:g.3653020GA[5]	NT_167244.1:g.3653020GA[6]	NT_167244.1:g.3653020GA[8]	NT_167244.1:g.3653020GA[9]	NT_167244.1:g.3653020GA[10]	NT_167244.1:g.3653020GA[11]	NT_167244.1:g.3653020GA[12]
TSBP1 transcript variant 2	NM_001286474.2:c.13+838=	NM_001286474.2:c.13+825CT[5]	NM_001286474.2:c.13+825CT[6]	NM_001286474.2:c.13+825CT[8]	NM_001286474.2:c.13+825CT[9]	NM_001286474.2:c.13+825CT[10]	NM_001286474.2:c.13+825CT[11]	NM_001286474.2:c.13+825CT[12]
TSBP1 transcript variant 3	NM_001286475.2:c.13+838=	NM_001286475.2:c.13+825CT[5]	NM_001286475.2:c.13+825CT[6]	NM_001286475.2:c.13+825CT[8]	NM_001286475.2:c.13+825CT[9]	NM_001286475.2:c.13+825CT[10]	NM_001286475.2:c.13+825CT[11]	NM_001286475.2:c.13+825CT[12]
C6orf10 transcript	NM_006781.3:c.13+838=	NM_006781.3:c.13+825CT[5]	NM_006781.3:c.13+825CT[6]	NM_006781.3:c.13+825CT[8]	NM_006781.3:c.13+825CT[9]	NM_006781.3:c.13+825CT[10]	NM_006781.3:c.13+825CT[11]	NM_006781.3:c.13+825CT[12]
TSBP1 transcript variant 1	NM_006781.5:c.13+838=	NM_006781.5:c.13+825CT[5]	NM_006781.5:c.13+825CT[6]	NM_006781.5:c.13+825CT[8]	NM_006781.5:c.13+825CT[9]	NM_006781.5:c.13+825CT[10]	NM_006781.5:c.13+825CT[11]	NM_006781.5:c.13+825CT[12]
C6orf10 transcript variant X1	XM_005248809.1:c.13+838=	XM_005248809.1:c.13+825CT[5]	XM_005248809.1:c.13+825CT[6]	XM_005248809.1:c.13+825CT[8]	XM_005248809.1:c.13+825CT[9]	XM_005248809.1:c.13+825CT[10]	XM_005248809.1:c.13+825CT[11]	XM_005248809.1:c.13+825CT[12]
C6orf10 transcript variant X2	XM_005248810.1:c.13+838=	XM_005248810.1:c.13+825CT[5]	XM_005248810.1:c.13+825CT[6]	XM_005248810.1:c.13+825CT[8]	XM_005248810.1:c.13+825CT[9]	XM_005248810.1:c.13+825CT[10]	XM_005248810.1:c.13+825CT[11]	XM_005248810.1:c.13+825CT[12]
C6orf10 transcript variant X1	XM_005272765.1:c.13+843=	XM_005272765.1:c.13+824CT[8]	XM_005272765.1:c.13+824CT[9]	XM_005272765.1:c.13+824CT[11]	XM_005272765.1:c.13+824CT[12]	XM_005272765.1:c.13+824CT[13]	XM_005272765.1:c.13+824CT[14]	XM_005272765.1:c.13+824CT[15]
C6orf10 transcript variant X2	XM_005272766.1:c.13+843=	XM_005272766.1:c.13+824CT[8]	XM_005272766.1:c.13+824CT[9]	XM_005272766.1:c.13+824CT[11]	XM_005272766.1:c.13+824CT[12]	XM_005272766.1:c.13+824CT[13]	XM_005272766.1:c.13+824CT[14]	XM_005272766.1:c.13+824CT[15]
C6orf10 transcript variant X1	XM_005274911.1:c.13+843=	XM_005274911.1:c.13+824CT[8]	XM_005274911.1:c.13+824CT[9]	XM_005274911.1:c.13+824CT[11]	XM_005274911.1:c.13+824CT[12]	XM_005274911.1:c.13+824CT[13]	XM_005274911.1:c.13+824CT[14]	XM_005274911.1:c.13+824CT[15]
C6orf10 transcript variant X2	XM_005274912.1:c.13+843=	XM_005274912.1:c.13+824CT[8]	XM_005274912.1:c.13+824CT[9]	XM_005274912.1:c.13+824CT[11]	XM_005274912.1:c.13+824CT[12]	XM_005274912.1:c.13+824CT[13]	XM_005274912.1:c.13+824CT[14]	XM_005274912.1:c.13+824CT[15]
C6orf10 transcript variant X1	XM_005275077.1:c.13+838=	XM_005275077.1:c.13+825CT[5]	XM_005275077.1:c.13+825CT[6]	XM_005275077.1:c.13+825CT[8]	XM_005275077.1:c.13+825CT[9]	XM_005275077.1:c.13+825CT[10]	XM_005275077.1:c.13+825CT[11]	XM_005275077.1:c.13+825CT[12]
C6orf10 transcript variant X2	XM_005275078.1:c.13+838=	XM_005275078.1:c.13+825CT[5]	XM_005275078.1:c.13+825CT[6]	XM_005275078.1:c.13+825CT[8]	XM_005275078.1:c.13+825CT[9]	XM_005275078.1:c.13+825CT[10]	XM_005275078.1:c.13+825CT[11]	XM_005275078.1:c.13+825CT[12]
C6orf10 transcript variant X1	XM_005275341.1:c.13+843=	XM_005275341.1:c.13+824CT[8]	XM_005275341.1:c.13+824CT[9]	XM_005275341.1:c.13+824CT[11]	XM_005275341.1:c.13+824CT[12]	XM_005275341.1:c.13+824CT[13]	XM_005275341.1:c.13+824CT[14]	XM_005275341.1:c.13+824CT[15]
C6orf10 transcript variant X2	XM_005275342.1:c.13+843=	XM_005275342.1:c.13+824CT[8]	XM_005275342.1:c.13+824CT[9]	XM_005275342.1:c.13+824CT[11]	XM_005275342.1:c.13+824CT[12]	XM_005275342.1:c.13+824CT[13]	XM_005275342.1:c.13+824CT[14]	XM_005275342.1:c.13+824CT[15]
C6orf10 transcript variant X1	XM_005275508.1:c.13+837=	XM_005275508.1:c.13+824CT[5]	XM_005275508.1:c.13+824CT[6]	XM_005275508.1:c.13+824CT[8]	XM_005275508.1:c.13+824CT[9]	XM_005275508.1:c.13+824CT[10]	XM_005275508.1:c.13+824CT[11]	XM_005275508.1:c.13+824CT[12]
C6orf10 transcript variant X2	XM_005275509.1:c.13+837=	XM_005275509.1:c.13+824CT[5]	XM_005275509.1:c.13+824CT[6]	XM_005275509.1:c.13+824CT[8]	XM_005275509.1:c.13+824CT[9]	XM_005275509.1:c.13+824CT[10]	XM_005275509.1:c.13+824CT[11]	XM_005275509.1:c.13+824CT[12]
TSBP1 transcript variant X2	XM_024446307.2:c.13+838=	XM_024446307.2:c.13+825CT[5]	XM_024446307.2:c.13+825CT[6]	XM_024446307.2:c.13+825CT[8]	XM_024446307.2:c.13+825CT[9]	XM_024446307.2:c.13+825CT[10]	XM_024446307.2:c.13+825CT[11]	XM_024446307.2:c.13+825CT[12]

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, 17 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SI_MHC_SNP	ss12708432	Oct 12, 2018 (152)
2	HGSV	ss81468008	Oct 12, 2018 (152)
3	HGSV	ss81530133	Oct 12, 2018 (152)
4	1000GENOMES	ss327077898	May 09, 2011 (134)
5	LUNTER	ss551782246	Apr 25, 2013 (138)
6	TISHKOFF	ss558338526	Apr 25, 2013 (138)
7	TISHKOFF	ss558338583	Oct 12, 2018 (152)
8	EVA_DECODE	ss1592316428	Apr 01, 2015 (144)
9	EVA_DECODE	ss1592316429	Apr 01, 2015 (144)
10	EVA_DECODE	ss1592316430	Apr 01, 2015 (144)
11	EVA_UK10K_ALSPAC	ss1705108994	Apr 01, 2015 (144)
12	EVA_UK10K_TWINSUK	ss1705109133	Apr 01, 2015 (144)
13	SWEGEN	ss2998806713	Nov 08, 2017 (151)
14	SWEGEN	ss2998806714	Nov 08, 2017 (151)
15	SWEGEN	ss2998806715	Nov 08, 2017 (151)
16	SWEGEN	ss2998806717	Nov 08, 2017 (151)
17	EVA	ss3829836286	Apr 26, 2020 (154)
18	VINODS	ss4025190123	Apr 26, 2021 (155)
19	VINODS	ss4025210577	Apr 26, 2021 (155)
20	VINODS	ss4025268111	Apr 26, 2021 (155)
21	GNOMAD	ss4139453904	Apr 26, 2021 (155)
22	GNOMAD	ss4139453905	Apr 26, 2021 (155)
23	GNOMAD	ss4139453906	Apr 26, 2021 (155)
24	GNOMAD	ss4139453907	Apr 26, 2021 (155)
25	GNOMAD	ss4139453910	Apr 26, 2021 (155)
26	GNOMAD	ss4139453911	Apr 26, 2021 (155)
27	TOMMO_GENOMICS	ss5176861846	Apr 26, 2021 (155)
28	TOMMO_GENOMICS	ss5176861847	Apr 26, 2021 (155)
29	TOMMO_GENOMICS	ss5176861849	Apr 26, 2021 (155)
30	TOMMO_GENOMICS	ss5176861850	Apr 26, 2021 (155)
31	1000G_HIGH_COVERAGE	ss5267954634	Oct 13, 2022 (156)
32	1000G_HIGH_COVERAGE	ss5267954635	Oct 13, 2022 (156)
33	1000G_HIGH_COVERAGE	ss5267954636	Oct 13, 2022 (156)
34	1000G_HIGH_COVERAGE	ss5267954639	Oct 13, 2022 (156)
35	HUGCELL_USP	ss5465686241	Oct 13, 2022 (156)
36	HUGCELL_USP	ss5465686243	Oct 13, 2022 (156)
37	HUGCELL_USP	ss5465686244	Oct 13, 2022 (156)
38	HUGCELL_USP	ss5465686246	Oct 13, 2022 (156)
39	TOMMO_GENOMICS	ss5714725157	Oct 13, 2022 (156)
40	TOMMO_GENOMICS	ss5714725158	Oct 13, 2022 (156)
41	TOMMO_GENOMICS	ss5714725159	Oct 13, 2022 (156)
42	TOMMO_GENOMICS	ss5714725160	Oct 13, 2022 (156)
43	EVA	ss5842035972	Oct 13, 2022 (156)
44	The Avon Longitudinal Study of Parents and Children	NC_000006.11 - 32338633	Oct 12, 2018 (152)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 221358854 (NC_000006.12:32370855::AG 7517/138276) Row 221358855 (NC_000006.12:32370855::AGAG 17436/138158) Row 221358856 (NC_000006.12:32370855::AGAGAG 25917/138152)...	-	Apr 26, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 221358854 (NC_000006.12:32370855::AG 7517/138276) Row 221358855 (NC_000006.12:32370855::AGAG 17436/138158) Row 221358856 (NC_000006.12:32370855::AGAGAG 25917/138152)...	-	Apr 26, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 221358854 (NC_000006.12:32370855::AG 7517/138276) Row 221358855 (NC_000006.12:32370855::AGAG 17436/138158) Row 221358856 (NC_000006.12:32370855::AGAGAG 25917/138152)...	-	Apr 26, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 221358854 (NC_000006.12:32370855::AG 7517/138276) Row 221358855 (NC_000006.12:32370855::AGAG 17436/138158) Row 221358856 (NC_000006.12:32370855::AGAGAG 25917/138152)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 221358854 (NC_000006.12:32370855::AG 7517/138276) Row 221358855 (NC_000006.12:32370855::AGAG 17436/138158) Row 221358856 (NC_000006.12:32370855::AGAGAG 25917/138152)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 221358854 (NC_000006.12:32370855::AG 7517/138276) Row 221358855 (NC_000006.12:32370855::AGAG 17436/138158) Row 221358856 (NC_000006.12:32370855::AGAGAG 25917/138152)...	-	Apr 26, 2021 (155)
51	8.3KJPN Submission ignored due to conflicting rows: Row 34831153 (NC_000006.11:32338632::AGAGAG 2610/16760) Row 34831154 (NC_000006.11:32338632::AGAG 5664/16760) Row 34831156 (NC_000006.11:32338632::AG 1565/16760)...	-	Apr 26, 2021 (155)
52	8.3KJPN Submission ignored due to conflicting rows: Row 34831153 (NC_000006.11:32338632::AGAGAG 2610/16760) Row 34831154 (NC_000006.11:32338632::AGAG 5664/16760) Row 34831156 (NC_000006.11:32338632::AG 1565/16760)...	-	Apr 26, 2021 (155)
53	8.3KJPN Submission ignored due to conflicting rows: Row 34831153 (NC_000006.11:32338632::AGAGAG 2610/16760) Row 34831154 (NC_000006.11:32338632::AGAG 5664/16760) Row 34831156 (NC_000006.11:32338632::AG 1565/16760)...	-	Apr 26, 2021 (155)
54	8.3KJPN Submission ignored due to conflicting rows: Row 34831153 (NC_000006.11:32338632::AGAGAG 2610/16760) Row 34831154 (NC_000006.11:32338632::AGAG 5664/16760) Row 34831156 (NC_000006.11:32338632::AG 1565/16760)...	-	Apr 26, 2021 (155)
55	14KJPN Submission ignored due to conflicting rows: Row 48562261 (NC_000006.12:32370855::AGAGAG 4163/27946) Row 48562262 (NC_000006.12:32370855::AGAG 9193/27946) Row 48562263 (NC_000006.12:32370855::AGAGAGAG 2065/27946)...	-	Oct 13, 2022 (156)
56	14KJPN Submission ignored due to conflicting rows: Row 48562261 (NC_000006.12:32370855::AGAGAG 4163/27946) Row 48562262 (NC_000006.12:32370855::AGAG 9193/27946) Row 48562263 (NC_000006.12:32370855::AGAGAGAG 2065/27946)...	-	Oct 13, 2022 (156)
57	14KJPN Submission ignored due to conflicting rows: Row 48562261 (NC_000006.12:32370855::AGAGAG 4163/27946) Row 48562262 (NC_000006.12:32370855::AGAG 9193/27946) Row 48562263 (NC_000006.12:32370855::AGAGAGAG 2065/27946)...	-	Oct 13, 2022 (156)
58	14KJPN Submission ignored due to conflicting rows: Row 48562261 (NC_000006.12:32370855::AGAGAG 4163/27946) Row 48562262 (NC_000006.12:32370855::AGAG 9193/27946) Row 48562263 (NC_000006.12:32370855::AGAGAGAG 2065/27946)...	-	Oct 13, 2022 (156)
59	UK 10K study - Twins	NC_000006.11 - 32338633	Oct 12, 2018 (152)
60	ALFA	NC_000006.12 - 32370856	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)
rs151186646	Oct 19, 2011 (136)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4139453911	NC_000006.12:32370855:AGAG:	NC_000006.12:32370855:AGAGAGAGAGAG… NC_000006.12:32370855:AGAGAGAGAGAGAGA:AGAGAGAGAGA	(self)
8678113806	NC_000006.12:32370855:AGAGAGAGAGAG… NC_000006.12:32370855:AGAGAGAGAGAGAGA:AGAGAGAGAGA	NC_000006.12:32370855:AGAGAGAGAGAG… NC_000006.12:32370855:AGAGAGAGAGAGAGA:AGAGAGAGAGA	(self)
ss4139453910	NC_000006.12:32370855:AG:	NC_000006.12:32370855:AGAGAGAGAGAG… NC_000006.12:32370855:AGAGAGAGAGAGAGA:AGAGAGAGAGAGA	(self)
8678113806	NC_000006.12:32370855:AGAGAGAGAGAG… NC_000006.12:32370855:AGAGAGAGAGAGAGA:AGAGAGAGAGAGA	NC_000006.12:32370855:AGAGAGAGAGAG… NC_000006.12:32370855:AGAGAGAGAGAGAGA:AGAGAGAGAGAGA	(self)
ss1592316428	NC_000006.10:32446610::AG	NC_000006.12:32370855:AGAGAGAGAGAG… NC_000006.12:32370855:AGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA	(self)
ss2998806715, ss3829836286, ss5176861849	NC_000006.11:32338632::AG	NC_000006.12:32370855:AGAGAGAGAGAG… NC_000006.12:32370855:AGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA	(self)
ss4139453904, ss5267954636, ss5465686244, ss5714725160	NC_000006.12:32370855::AG	NC_000006.12:32370855:AGAGAGAGAGAG… NC_000006.12:32370855:AGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA	(self)
8678113806	NC_000006.12:32370855:AGAGAGAGAGAG… NC_000006.12:32370855:AGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA	NC_000006.12:32370855:AGAGAGAGAGAG… NC_000006.12:32370855:AGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGA	(self)
ss1592316429	NC_000006.10:32446610::AGAG	NC_000006.12:32370855:AGAGAGAGAGAG… NC_000006.12:32370855:AGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA	(self)
ss2998806713, ss5176861847	NC_000006.11:32338632::AGAG	NC_000006.12:32370855:AGAGAGAGAGAG… NC_000006.12:32370855:AGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA	(self)
ss558338583	NC_000006.11:32338647::GAGA	NC_000006.12:32370855:AGAGAGAGAGAG… NC_000006.12:32370855:AGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA	(self)
ss4139453905, ss5267954634, ss5465686241, ss5714725158	NC_000006.12:32370855::AGAG	NC_000006.12:32370855:AGAGAGAGAGAG… NC_000006.12:32370855:AGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA	(self)
8678113806	NC_000006.12:32370855:AGAGAGAGAGAG… NC_000006.12:32370855:AGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA	NC_000006.12:32370855:AGAGAGAGAGAG… NC_000006.12:32370855:AGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA	(self)
ss4025190123	NT_113891.3:3808981:AG:	NC_000006.12:32370855:AGAGAGAGAGAG… NC_000006.12:32370855:AGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA	(self)
ss4025210577	NT_167245.2:3611964:AG:	NC_000006.12:32370855:AGAGAGAGAGAG… NC_000006.12:32370855:AGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA	(self)
ss4025268111	NT_167248.2:3593899:AG:	NC_000006.12:32370855:AGAGAGAGAGAG… NC_000006.12:32370855:AGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA	(self)
ss327077898, ss551782246, ss1592316430	NC_000006.10:32446610::AGAGAG	NC_000006.12:32370855:AGAGAGAGAGAG… NC_000006.12:32370855:AGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA	(self)
17478914, 17478914, ss558338526, ss1705108994, ss1705109133, ss2998806714, ss5176861846, ss5842035972	NC_000006.11:32338632::AGAGAG	NC_000006.12:32370855:AGAGAGAGAGAG… NC_000006.12:32370855:AGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA	(self)
ss558338583	NC_000006.11:32338647::GAGAGA	NC_000006.12:32370855:AGAGAGAGAGAG… NC_000006.12:32370855:AGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA	(self)
ss4139453906, ss5267954635, ss5465686243, ss5714725157	NC_000006.12:32370855::AGAGAG	NC_000006.12:32370855:AGAGAGAGAGAG… NC_000006.12:32370855:AGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA	(self)
8678113806	NC_000006.12:32370855:AGAGAGAGAGAG… NC_000006.12:32370855:AGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA	NC_000006.12:32370855:AGAGAGAGAGAG… NC_000006.12:32370855:AGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA	(self)
ss12708432, ss81468008, ss81530133	NT_007592.15:32278647::GAGAGA	NC_000006.12:32370855:AGAGAGAGAGAG… NC_000006.12:32370855:AGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA	(self)
ss2998806717, ss5176861850	NC_000006.11:32338632::AGAGAGAG	NC_000006.12:32370855:AGAGAGAGAGAG… NC_000006.12:32370855:AGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGA	(self)
ss4139453907, ss5267954639, ss5465686246, ss5714725159	NC_000006.12:32370855::AGAGAGAG	NC_000006.12:32370855:AGAGAGAGAGAG… NC_000006.12:32370855:AGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGA	(self)
8678113806	NC_000006.12:32370855:AGAGAGAGAGAG… NC_000006.12:32370855:AGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGA	NC_000006.12:32370855:AGAGAGAGAGAG… NC_000006.12:32370855:AGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGA	(self)
8678113806	NC_000006.12:32370855:AGAGAGAGAGAG… NC_000006.12:32370855:AGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGA	NC_000006.12:32370855:AGAGAGAGAGAG… NC_000006.12:32370855:AGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3493971511	NC_000006.12:32370855::AGAGAGAGAG	NC_000006.12:32370855:AGAGAGAGAGAG… NC_000006.12:32370855:AGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGAGA

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

No publications for rs1554214192

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

rs1554214192