Name: rs767676507
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.

rs767676507

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr14:103332906-103332920 (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)₅ / del(T)₄ / delT…
del(T)₇ / del(T)₅ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₅ / dup(T)₆ / dup(T)₇ / dup(T)₈ / dup(T)₉ / dup(T)₁₀ / dup(T)₁₁ / dup(T)₁₂ / dup(T)₁₃ / dup(T)₁₄ / dup(T)₁₅ / ins(T)₂₀ / ins(T)₃₅ / ins(T)₃₉
Variation Type: Indel Insertion and Deletion
Frequency: del(T)₅=0.000008 (2/264690, TOPMED)
dupTT=0.01856 (275/14814, ALFA)
dup(T)₆=0.1458 (562/3854, ALSPAC) (+ 2 more)
dup(T)₆=0.1389 (515/3708, TWINSUK)
dup(T)₈=0.25 (10/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: EIF5 : 2KB Upstream Variant
LOC105370687 : Non Coding Transcript 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	14814	TTTTTTTTTTTTTTT=0.96260	TTTTTTTT=0.00000, TTTTTTTTTT=0.00000, TTTTTTTTTTT=0.00000, TTTTTTTTTTTT=0.00000, TTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.00054, TTTTTTTTTTTTTTTTT=0.01856, TTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTT=0.00365, TTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTT=0.01316, TTTTTTTTTTTTTTTTTTTTTTTT=0.00149, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00000	0.969056	0.004341	0.026603	32
European	Sub	12464	TTTTTTTTTTTTTTT=0.95563	TTTTTTTT=0.00000, TTTTTTTTTT=0.00000, TTTTTTTTTTT=0.00000, TTTTTTTTTTTT=0.00000, TTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.00064, TTTTTTTTTTTTTTTTT=0.02206, TTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTT=0.00433, TTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTT=0.01556, TTTTTTTTTTTTTTTTTTTTTTTT=0.00177, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00000	0.962969	0.005194	0.031836	32
African	Sub	1462	TTTTTTTTTTTTTTT=1.0000	TTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	40	TTTTTTTTTTTTTTT=1.00	TTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	1422	TTTTTTTTTTTTTTT=1.0000	TTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	66	TTTTTTTTTTTTTTT=1.00	TTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	48	TTTTTTTTTTTTTTT=1.00	TTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	18	TTTTTTTTTTTTTTT=1.00	TTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	88	TTTTTTTTTTTTTTT=1.00	TTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	338	TTTTTTTTTTTTTTT=1.000	TTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	70	TTTTTTTTTTTTTTT=1.00	TTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	326	TTTTTTTTTTTTTTT=0.997	TTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.003, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=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
TopMed	Global	Study-wide	264690	(T)₁₅=0.999992	del(T)₅=0.000008
Allele Frequency Aggregator	Total	Global	14814	(T)₁₅=0.96260	del(T)₇=0.00000, del(T)₅=0.00000, del(T)₄=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.00000, dupT=0.00054, dupTT=0.01856, dupTTT=0.00000, dup(T)₄=0.00000, dup(T)₅=0.00000, dup(T)₆=0.00365, dup(T)₇=0.00000, dup(T)₈=0.01316, dup(T)₉=0.00149, dup(T)₁₀=0.00000, dup(T)₁₁=0.00000
Allele Frequency Aggregator	European	Sub	12464	(T)₁₅=0.95563	del(T)₇=0.00000, del(T)₅=0.00000, del(T)₄=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.00000, dupT=0.00064, dupTT=0.02206, dupTTT=0.00000, dup(T)₄=0.00000, dup(T)₅=0.00000, dup(T)₆=0.00433, dup(T)₇=0.00000, dup(T)₈=0.01556, dup(T)₉=0.00177, dup(T)₁₀=0.00000, dup(T)₁₁=0.00000
Allele Frequency Aggregator	African	Sub	1462	(T)₁₅=1.0000	del(T)₇=0.0000, del(T)₅=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000, dup(T)₄=0.0000, dup(T)₅=0.0000, dup(T)₆=0.0000, dup(T)₇=0.0000, dup(T)₈=0.0000, dup(T)₉=0.0000, dup(T)₁₀=0.0000, dup(T)₁₁=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	338	(T)₁₅=1.000	del(T)₇=0.000, del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000, dup(T)₆=0.000, dup(T)₇=0.000, dup(T)₈=0.000, dup(T)₉=0.000, dup(T)₁₀=0.000, dup(T)₁₁=0.000
Allele Frequency Aggregator	Other	Sub	326	(T)₁₅=0.997	del(T)₇=0.000, del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000, dup(T)₆=0.000, dup(T)₇=0.000, dup(T)₈=0.003, dup(T)₉=0.000, dup(T)₁₀=0.000, dup(T)₁₁=0.000
Allele Frequency Aggregator	Latin American 1	Sub	88	(T)₁₅=1.00	del(T)₇=0.00, del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00, dup(T)₆=0.00, dup(T)₇=0.00, dup(T)₈=0.00, dup(T)₉=0.00, dup(T)₁₀=0.00, dup(T)₁₁=0.00
Allele Frequency Aggregator	South Asian	Sub	70	(T)₁₅=1.00	del(T)₇=0.00, del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00, dup(T)₆=0.00, dup(T)₇=0.00, dup(T)₈=0.00, dup(T)₉=0.00, dup(T)₁₀=0.00, dup(T)₁₁=0.00
Allele Frequency Aggregator	Asian	Sub	66	(T)₁₅=1.00	del(T)₇=0.00, del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00, dup(T)₆=0.00, dup(T)₇=0.00, dup(T)₈=0.00, dup(T)₉=0.00, dup(T)₁₀=0.00, dup(T)₁₁=0.00
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	- No frequency provided	dup(T)₆=0.1458
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	- No frequency provided	dup(T)₆=0.1389
The Danish reference pan genome	Danish	Study-wide	40	- No frequency provided	dup(T)₈=0.25

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 14	NC_000014.9:g.103332914_103332920del
GRCh38.p14 chr 14	NC_000014.9:g.103332916_103332920del
GRCh38.p14 chr 14	NC_000014.9:g.103332917_103332920del
GRCh38.p14 chr 14	NC_000014.9:g.103332918_103332920del
GRCh38.p14 chr 14	NC_000014.9:g.103332919_103332920del
GRCh38.p14 chr 14	NC_000014.9:g.103332920del
GRCh38.p14 chr 14	NC_000014.9:g.103332920dup
GRCh38.p14 chr 14	NC_000014.9:g.103332919_103332920dup
GRCh38.p14 chr 14	NC_000014.9:g.103332918_103332920dup
GRCh38.p14 chr 14	NC_000014.9:g.103332917_103332920dup
GRCh38.p14 chr 14	NC_000014.9:g.103332916_103332920dup
GRCh38.p14 chr 14	NC_000014.9:g.103332915_103332920dup
GRCh38.p14 chr 14	NC_000014.9:g.103332914_103332920dup
GRCh38.p14 chr 14	NC_000014.9:g.103332913_103332920dup
GRCh38.p14 chr 14	NC_000014.9:g.103332912_103332920dup
GRCh38.p14 chr 14	NC_000014.9:g.103332911_103332920dup
GRCh38.p14 chr 14	NC_000014.9:g.103332910_103332920dup
GRCh38.p14 chr 14	NC_000014.9:g.103332909_103332920dup
GRCh38.p14 chr 14	NC_000014.9:g.103332908_103332920dup
GRCh38.p14 chr 14	NC_000014.9:g.103332907_103332920dup
GRCh38.p14 chr 14	NC_000014.9:g.103332906_103332920dup
GRCh38.p14 chr 14	NC_000014.9:g.103332920_103332921insTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 14	NC_000014.9:g.103332920_103332921insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 14	NC_000014.9:g.103332920_103332921insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 14	NC_000014.8:g.103799251_103799257del
GRCh37.p13 chr 14	NC_000014.8:g.103799253_103799257del
GRCh37.p13 chr 14	NC_000014.8:g.103799254_103799257del
GRCh37.p13 chr 14	NC_000014.8:g.103799255_103799257del
GRCh37.p13 chr 14	NC_000014.8:g.103799256_103799257del
GRCh37.p13 chr 14	NC_000014.8:g.103799257del
GRCh37.p13 chr 14	NC_000014.8:g.103799257dup
GRCh37.p13 chr 14	NC_000014.8:g.103799256_103799257dup
GRCh37.p13 chr 14	NC_000014.8:g.103799255_103799257dup
GRCh37.p13 chr 14	NC_000014.8:g.103799254_103799257dup
GRCh37.p13 chr 14	NC_000014.8:g.103799253_103799257dup
GRCh37.p13 chr 14	NC_000014.8:g.103799252_103799257dup
GRCh37.p13 chr 14	NC_000014.8:g.103799251_103799257dup
GRCh37.p13 chr 14	NC_000014.8:g.103799250_103799257dup
GRCh37.p13 chr 14	NC_000014.8:g.103799249_103799257dup
GRCh37.p13 chr 14	NC_000014.8:g.103799248_103799257dup
GRCh37.p13 chr 14	NC_000014.8:g.103799247_103799257dup
GRCh37.p13 chr 14	NC_000014.8:g.103799246_103799257dup
GRCh37.p13 chr 14	NC_000014.8:g.103799245_103799257dup
GRCh37.p13 chr 14	NC_000014.8:g.103799244_103799257dup
GRCh37.p13 chr 14	NC_000014.8:g.103799243_103799257dup
GRCh37.p13 chr 14	NC_000014.8:g.103799257_103799258insTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 14	NC_000014.8:g.103799257_103799258insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 14	NC_000014.8:g.103799257_103799258insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Gene: EIF5, eukaryotic translation initiation factor 5 (plus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
EIF5 transcript variant 1	NM_001969.5:c.	N/A	Upstream Transcript Variant
EIF5 transcript variant 2	NM_183004.5:c.	N/A	Upstream Transcript Variant

Gene: LOC105370687, uncharacterized LOC105370687 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC105370687 transcript	NR_158216.1:n.1749_1755del	N/A	Non Coding Transcript Variant
LOC105370687 transcript	NR_158216.1:n.1751_1755del	N/A	Non Coding Transcript Variant
LOC105370687 transcript	NR_158216.1:n.1752_1755del	N/A	Non Coding Transcript Variant
LOC105370687 transcript	NR_158216.1:n.1753_1755del	N/A	Non Coding Transcript Variant
LOC105370687 transcript	NR_158216.1:n.1754_1755del	N/A	Non Coding Transcript Variant
LOC105370687 transcript	NR_158216.1:n.1755del	N/A	Non Coding Transcript Variant
LOC105370687 transcript	NR_158216.1:n.1755dup	N/A	Non Coding Transcript Variant
LOC105370687 transcript	NR_158216.1:n.1754_1755dup	N/A	Non Coding Transcript Variant
LOC105370687 transcript	NR_158216.1:n.1753_1755dup	N/A	Non Coding Transcript Variant
LOC105370687 transcript	NR_158216.1:n.1752_1755dup	N/A	Non Coding Transcript Variant
LOC105370687 transcript	NR_158216.1:n.1751_1755dup	N/A	Non Coding Transcript Variant
LOC105370687 transcript	NR_158216.1:n.1750_1755dup	N/A	Non Coding Transcript Variant
LOC105370687 transcript	NR_158216.1:n.1749_1755dup	N/A	Non Coding Transcript Variant
LOC105370687 transcript	NR_158216.1:n.1748_1755dup	N/A	Non Coding Transcript Variant
LOC105370687 transcript	NR_158216.1:n.1747_1755dup	N/A	Non Coding Transcript Variant
LOC105370687 transcript	NR_158216.1:n.1746_1755dup	N/A	Non Coding Transcript Variant
LOC105370687 transcript	NR_158216.1:n.1745_1755dup	N/A	Non Coding Transcript Variant
LOC105370687 transcript	NR_158216.1:n.1744_1755dup	N/A	Non Coding Transcript Variant
LOC105370687 transcript	NR_158216.1:n.1743_1755dup	N/A	Non Coding Transcript Variant
LOC105370687 transcript	NR_158216.1:n.1742_1755dup	N/A	Non Coding Transcript Variant
LOC105370687 transcript	NR_158216.1:n.1741_1755dup	N/A	Non Coding Transcript Variant
LOC105370687 transcript	NR_158216.1:n.1755_1756in… NR_158216.1:n.1755_1756insAAAAAAAAAAAAAAAAAAAA	N/A	Non Coding Transcript Variant
LOC105370687 transcript	NR_158216.1:n.1755_1756in… NR_158216.1:n.1755_1756insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	N/A	Non Coding Transcript Variant
LOC105370687 transcript	NR_158216.1:n.1755_1756in… NR_158216.1:n.1755_1756insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	N/A	Non Coding 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)₁₅=	del(T)₇	del(T)₅	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₅	dup(T)₆	dup(T)₇	dup(T)₈	dup(T)₉	dup(T)₁₀	dup(T)₁₁	dup(T)₁₂	dup(T)₁₃	dup(T)₁₄	dup(T)₁₅	ins(T)₂₀	ins(T)₃₅	ins(T)₃₉
GRCh38.p14 chr 14	NC_000014.9:g.103332906_103332920=	NC_000014.9:g.103332914_103332920del	NC_000014.9:g.103332916_103332920del	NC_000014.9:g.103332917_103332920del	NC_000014.9:g.103332918_103332920del	NC_000014.9:g.103332919_103332920del	NC_000014.9:g.103332920del	NC_000014.9:g.103332920dup	NC_000014.9:g.103332919_103332920dup	NC_000014.9:g.103332918_103332920dup	NC_000014.9:g.103332917_103332920dup	NC_000014.9:g.103332916_103332920dup	NC_000014.9:g.103332915_103332920dup	NC_000014.9:g.103332914_103332920dup	NC_000014.9:g.103332913_103332920dup	NC_000014.9:g.103332912_103332920dup	NC_000014.9:g.103332911_103332920dup	NC_000014.9:g.103332910_103332920dup	NC_000014.9:g.103332909_103332920dup	NC_000014.9:g.103332908_103332920dup	NC_000014.9:g.103332907_103332920dup	NC_000014.9:g.103332906_103332920dup	NC_000014.9:g.103332920_103332921insTTTTTTTTTTTTTTTTTTTT	NC_000014.9:g.103332920_103332921insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000014.9:g.103332920_103332921insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 14	NC_000014.8:g.103799243_103799257=	NC_000014.8:g.103799251_103799257del	NC_000014.8:g.103799253_103799257del	NC_000014.8:g.103799254_103799257del	NC_000014.8:g.103799255_103799257del	NC_000014.8:g.103799256_103799257del	NC_000014.8:g.103799257del	NC_000014.8:g.103799257dup	NC_000014.8:g.103799256_103799257dup	NC_000014.8:g.103799255_103799257dup	NC_000014.8:g.103799254_103799257dup	NC_000014.8:g.103799253_103799257dup	NC_000014.8:g.103799252_103799257dup	NC_000014.8:g.103799251_103799257dup	NC_000014.8:g.103799250_103799257dup	NC_000014.8:g.103799249_103799257dup	NC_000014.8:g.103799248_103799257dup	NC_000014.8:g.103799247_103799257dup	NC_000014.8:g.103799246_103799257dup	NC_000014.8:g.103799245_103799257dup	NC_000014.8:g.103799244_103799257dup	NC_000014.8:g.103799243_103799257dup	NC_000014.8:g.103799257_103799258insTTTTTTTTTTTTTTTTTTTT	NC_000014.8:g.103799257_103799258insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000014.8:g.103799257_103799258insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
LOC105370687 transcript	NR_158216.1:n.1741_1755=	NR_158216.1:n.1749_1755del	NR_158216.1:n.1751_1755del	NR_158216.1:n.1752_1755del	NR_158216.1:n.1753_1755del	NR_158216.1:n.1754_1755del	NR_158216.1:n.1755del	NR_158216.1:n.1755dup	NR_158216.1:n.1754_1755dup	NR_158216.1:n.1753_1755dup	NR_158216.1:n.1752_1755dup	NR_158216.1:n.1751_1755dup	NR_158216.1:n.1750_1755dup	NR_158216.1:n.1749_1755dup	NR_158216.1:n.1748_1755dup	NR_158216.1:n.1747_1755dup	NR_158216.1:n.1746_1755dup	NR_158216.1:n.1745_1755dup	NR_158216.1:n.1744_1755dup	NR_158216.1:n.1743_1755dup	NR_158216.1:n.1742_1755dup	NR_158216.1:n.1741_1755dup	NR_158216.1:n.1755_1756insAAAAAAAAAAAAAAAAAAAA	NR_158216.1:n.1755_1756insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NR_158216.1:n.1755_1756insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

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#.

50 SubSNP, 37 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	EVA_GENOME_DK	ss1574818738	Apr 01, 2015 (144)
2	EVA_UK10K_ALSPAC	ss1708202468	Apr 01, 2015 (144)
3	EVA_UK10K_TWINSUK	ss1708202490	Apr 01, 2015 (144)
4	SWEGEN	ss3012803521	Nov 08, 2017 (151)
5	SWEGEN	ss3012803522	Nov 08, 2017 (151)
6	SWEGEN	ss3012803524	Nov 08, 2017 (151)
7	SWEGEN	ss3012803525	Nov 08, 2017 (151)
8	EVA_DECODE	ss3697417752	Jul 13, 2019 (153)
9	EVA_DECODE	ss3697417755	Jul 13, 2019 (153)
10	EVA_DECODE	ss3697417756	Jul 13, 2019 (153)
11	EVA_DECODE	ss3697417757	Jul 13, 2019 (153)
12	GNOMAD	ss4284376022	Apr 27, 2021 (155)
13	GNOMAD	ss4284376023	Apr 27, 2021 (155)
14	GNOMAD	ss4284376025	Apr 27, 2021 (155)
15	GNOMAD	ss4284376027	Apr 27, 2021 (155)
16	GNOMAD	ss4284376032	Apr 27, 2021 (155)
17	GNOMAD	ss4284376036	Apr 27, 2021 (155)
18	GNOMAD	ss4284376038	Apr 27, 2021 (155)
19	GNOMAD	ss4284376039	Apr 27, 2021 (155)
20	GNOMAD	ss4284376040	Apr 27, 2021 (155)
21	GNOMAD	ss4284376041	Apr 27, 2021 (155)
22	GNOMAD	ss4284376042	Apr 27, 2021 (155)
23	GNOMAD	ss4284376043	Apr 27, 2021 (155)
24	GNOMAD	ss4284376044	Apr 27, 2021 (155)
25	GNOMAD	ss4284376045	Apr 27, 2021 (155)
26	GNOMAD	ss4284376046	Apr 27, 2021 (155)
27	GNOMAD	ss4284376047	Apr 27, 2021 (155)
28	GNOMAD	ss4284376048	Apr 27, 2021 (155)
29	GNOMAD	ss4284376049	Apr 27, 2021 (155)
30	GNOMAD	ss4284376051	Apr 27, 2021 (155)
31	GNOMAD	ss4284376052	Apr 27, 2021 (155)
32	GNOMAD	ss4284376053	Apr 27, 2021 (155)
33	GNOMAD	ss4284376054	Apr 27, 2021 (155)
34	TOPMED	ss4983287586	Apr 27, 2021 (155)
35	TOMMO_GENOMICS	ss5214908696	Apr 27, 2021 (155)
36	TOMMO_GENOMICS	ss5214908697	Apr 27, 2021 (155)
37	TOMMO_GENOMICS	ss5214908698	Apr 27, 2021 (155)
38	TOMMO_GENOMICS	ss5214908699	Apr 27, 2021 (155)
39	TOMMO_GENOMICS	ss5214908700	Apr 27, 2021 (155)
40	1000G_HIGH_COVERAGE	ss5297523457	Oct 16, 2022 (156)
41	HUGCELL_USP	ss5491446187	Oct 16, 2022 (156)
42	HUGCELL_USP	ss5491446188	Oct 16, 2022 (156)
43	HUGCELL_USP	ss5491446189	Oct 16, 2022 (156)
44	HUGCELL_USP	ss5491446191	Oct 16, 2022 (156)
45	HUGCELL_USP	ss5491446192	Oct 16, 2022 (156)
46	TOMMO_GENOMICS	ss5768197154	Oct 16, 2022 (156)
47	TOMMO_GENOMICS	ss5768197155	Oct 16, 2022 (156)
48	TOMMO_GENOMICS	ss5768197157	Oct 16, 2022 (156)
49	TOMMO_GENOMICS	ss5768197158	Oct 16, 2022 (156)
50	TOMMO_GENOMICS	ss5768197159	Oct 16, 2022 (156)
51	The Avon Longitudinal Study of Parents and Children	NC_000014.8 - 103799243	Oct 12, 2018 (152)
52	The Danish reference pan genome	NC_000014.8 - 103799243	Apr 27, 2020 (154)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 461805364 (NC_000014.9:103332905::T 215/120534) Row 461805365 (NC_000014.9:103332905::TT 5568/120456) Row 461805367 (NC_000014.9:103332905::TTT 26/120564)...	-	Apr 27, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 461805364 (NC_000014.9:103332905::T 215/120534) Row 461805365 (NC_000014.9:103332905::TT 5568/120456) Row 461805367 (NC_000014.9:103332905::TTT 26/120564)...	-	Apr 27, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 461805364 (NC_000014.9:103332905::T 215/120534) Row 461805365 (NC_000014.9:103332905::TT 5568/120456) Row 461805367 (NC_000014.9:103332905::TTT 26/120564)...	-	Apr 27, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 461805364 (NC_000014.9:103332905::T 215/120534) Row 461805365 (NC_000014.9:103332905::TT 5568/120456) Row 461805367 (NC_000014.9:103332905::TTT 26/120564)...	-	Apr 27, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 461805364 (NC_000014.9:103332905::T 215/120534) Row 461805365 (NC_000014.9:103332905::TT 5568/120456) Row 461805367 (NC_000014.9:103332905::TTT 26/120564)...	-	Apr 27, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 461805364 (NC_000014.9:103332905::T 215/120534) Row 461805365 (NC_000014.9:103332905::TT 5568/120456) Row 461805367 (NC_000014.9:103332905::TTT 26/120564)...	-	Apr 27, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 461805364 (NC_000014.9:103332905::T 215/120534) Row 461805365 (NC_000014.9:103332905::TT 5568/120456) Row 461805367 (NC_000014.9:103332905::TTT 26/120564)...	-	Apr 27, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 461805364 (NC_000014.9:103332905::T 215/120534) Row 461805365 (NC_000014.9:103332905::TT 5568/120456) Row 461805367 (NC_000014.9:103332905::TTT 26/120564)...	-	Apr 27, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 461805364 (NC_000014.9:103332905::T 215/120534) Row 461805365 (NC_000014.9:103332905::TT 5568/120456) Row 461805367 (NC_000014.9:103332905::TTT 26/120564)...	-	Apr 27, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 461805364 (NC_000014.9:103332905::T 215/120534) Row 461805365 (NC_000014.9:103332905::TT 5568/120456) Row 461805367 (NC_000014.9:103332905::TTT 26/120564)...	-	Apr 27, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 461805364 (NC_000014.9:103332905::T 215/120534) Row 461805365 (NC_000014.9:103332905::TT 5568/120456) Row 461805367 (NC_000014.9:103332905::TTT 26/120564)...	-	Apr 27, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 461805364 (NC_000014.9:103332905::T 215/120534) Row 461805365 (NC_000014.9:103332905::TT 5568/120456) Row 461805367 (NC_000014.9:103332905::TTT 26/120564)...	-	Apr 27, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 461805364 (NC_000014.9:103332905::T 215/120534) Row 461805365 (NC_000014.9:103332905::TT 5568/120456) Row 461805367 (NC_000014.9:103332905::TTT 26/120564)...	-	Apr 27, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 461805364 (NC_000014.9:103332905::T 215/120534) Row 461805365 (NC_000014.9:103332905::TT 5568/120456) Row 461805367 (NC_000014.9:103332905::TTT 26/120564)...	-	Apr 27, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 461805364 (NC_000014.9:103332905::T 215/120534) Row 461805365 (NC_000014.9:103332905::TT 5568/120456) Row 461805367 (NC_000014.9:103332905::TTT 26/120564)...	-	Apr 27, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 461805364 (NC_000014.9:103332905::T 215/120534) Row 461805365 (NC_000014.9:103332905::TT 5568/120456) Row 461805367 (NC_000014.9:103332905::TTT 26/120564)...	-	Apr 27, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 461805364 (NC_000014.9:103332905::T 215/120534) Row 461805365 (NC_000014.9:103332905::TT 5568/120456) Row 461805367 (NC_000014.9:103332905::TTT 26/120564)...	-	Apr 27, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 461805364 (NC_000014.9:103332905::T 215/120534) Row 461805365 (NC_000014.9:103332905::TT 5568/120456) Row 461805367 (NC_000014.9:103332905::TTT 26/120564)...	-	Apr 27, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 461805364 (NC_000014.9:103332905::T 215/120534) Row 461805365 (NC_000014.9:103332905::TT 5568/120456) Row 461805367 (NC_000014.9:103332905::TTT 26/120564)...	-	Apr 27, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 461805364 (NC_000014.9:103332905::T 215/120534) Row 461805365 (NC_000014.9:103332905::TT 5568/120456) Row 461805367 (NC_000014.9:103332905::TTT 26/120564)...	-	Apr 27, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 461805364 (NC_000014.9:103332905::T 215/120534) Row 461805365 (NC_000014.9:103332905::TT 5568/120456) Row 461805367 (NC_000014.9:103332905::TTT 26/120564)...	-	Apr 27, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 461805364 (NC_000014.9:103332905::T 215/120534) Row 461805365 (NC_000014.9:103332905::TT 5568/120456) Row 461805367 (NC_000014.9:103332905::TTT 26/120564)...	-	Apr 27, 2021 (155)
75	8.3KJPN Submission ignored due to conflicting rows: Row 72878003 (NC_000014.8:103799242::TT 294/16618) Row 72878004 (NC_000014.8:103799242::TTTTTTTT 2141/16618) Row 72878005 (NC_000014.8:103799242::TTTTTT 449/16618)...	-	Apr 27, 2021 (155)
76	8.3KJPN Submission ignored due to conflicting rows: Row 72878003 (NC_000014.8:103799242::TT 294/16618) Row 72878004 (NC_000014.8:103799242::TTTTTTTT 2141/16618) Row 72878005 (NC_000014.8:103799242::TTTTTT 449/16618)...	-	Apr 27, 2021 (155)
77	8.3KJPN Submission ignored due to conflicting rows: Row 72878003 (NC_000014.8:103799242::TT 294/16618) Row 72878004 (NC_000014.8:103799242::TTTTTTTT 2141/16618) Row 72878005 (NC_000014.8:103799242::TTTTTT 449/16618)...	-	Apr 27, 2021 (155)
78	8.3KJPN Submission ignored due to conflicting rows: Row 72878003 (NC_000014.8:103799242::TT 294/16618) Row 72878004 (NC_000014.8:103799242::TTTTTTTT 2141/16618) Row 72878005 (NC_000014.8:103799242::TTTTTT 449/16618)...	-	Apr 27, 2021 (155)
79	8.3KJPN Submission ignored due to conflicting rows: Row 72878003 (NC_000014.8:103799242::TT 294/16618) Row 72878004 (NC_000014.8:103799242::TTTTTTTT 2141/16618) Row 72878005 (NC_000014.8:103799242::TTTTTT 449/16618)...	-	Apr 27, 2021 (155)
80	14KJPN Submission ignored due to conflicting rows: Row 102034258 (NC_000014.9:103332905::TTTTTTTT 4422/28214) Row 102034259 (NC_000014.9:103332905::TT 490/28214) Row 102034261 (NC_000014.9:103332905::TTTTTT 858/28214)...	-	Oct 16, 2022 (156)
81	14KJPN Submission ignored due to conflicting rows: Row 102034258 (NC_000014.9:103332905::TTTTTTTT 4422/28214) Row 102034259 (NC_000014.9:103332905::TT 490/28214) Row 102034261 (NC_000014.9:103332905::TTTTTT 858/28214)...	-	Oct 16, 2022 (156)
82	14KJPN Submission ignored due to conflicting rows: Row 102034258 (NC_000014.9:103332905::TTTTTTTT 4422/28214) Row 102034259 (NC_000014.9:103332905::TT 490/28214) Row 102034261 (NC_000014.9:103332905::TTTTTT 858/28214)...	-	Oct 16, 2022 (156)
83	14KJPN Submission ignored due to conflicting rows: Row 102034258 (NC_000014.9:103332905::TTTTTTTT 4422/28214) Row 102034259 (NC_000014.9:103332905::TT 490/28214) Row 102034261 (NC_000014.9:103332905::TTTTTT 858/28214)...	-	Oct 16, 2022 (156)
84	14KJPN Submission ignored due to conflicting rows: Row 102034258 (NC_000014.9:103332905::TTTTTTTT 4422/28214) Row 102034259 (NC_000014.9:103332905::TT 490/28214) Row 102034261 (NC_000014.9:103332905::TTTTTT 858/28214)...	-	Oct 16, 2022 (156)
85	TopMed	NC_000014.9 - 103332906	Apr 27, 2021 (155)
86	UK 10K study - Twins	NC_000014.8 - 103799243	Oct 12, 2018 (152)
87	ALFA	NC_000014.9 - 103332906	Apr 27, 2021 (155)

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

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
3581586089	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTT	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTT	(self)
198833245, ss4284376054, ss4983287586	NC_000014.9:103332905:TTTTT:	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
3581586089	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTT	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
3581586089	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss4284376053	NC_000014.9:103332905:TTT:	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
3581586089	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss4284376052	NC_000014.9:103332905:TT:	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
3581586089	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss5214908699	NC_000014.8:103799242:T:	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss4284376051, ss5768197158	NC_000014.9:103332905:T:	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
3581586089	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss4284376022	NC_000014.9:103332905::T	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
3581586089	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3012803521, ss5214908696	NC_000014.8:103799242::TT	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3697417752, ss4284376023, ss5491446189, ss5768197155	NC_000014.9:103332905::TT	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
3581586089	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4284376025	NC_000014.9:103332905::TTT	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
3581586089	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4284376027	NC_000014.9:103332905::TTTT	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
3581586089	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4284376032	NC_000014.9:103332905::TTTTT	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
3581586089	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
36424810, 36424810, ss1708202468, ss1708202490, ss3012803525, ss5214908698	NC_000014.8:103799242::TTTTTT	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss3697417755, ss4284376036, ss5491446192, ss5768197157	NC_000014.9:103332905::TTTTTT	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
3581586089	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4284376038, ss5297523457, ss5491446191	NC_000014.9:103332905::TTTTTTT	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
3581586089	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
473631, ss1574818738, ss3012803522, ss5214908697	NC_000014.8:103799242::TTTTTTTT	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3697417756, ss4284376039, ss5491446187, ss5768197154	NC_000014.9:103332905::TTTTTTTT	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
3581586089	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3012803524, ss5214908700	NC_000014.8:103799242::TTTTTTTTT	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3697417757, ss4284376040, ss5491446188, ss5768197159	NC_000014.9:103332905::TTTTTTTTT	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
3581586089	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4284376041	NC_000014.9:103332905::TTTTTTTTTT	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
3581586089	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4284376042	NC_000014.9:103332905::TTTTTTTTTTT	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
3581586089	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4284376043	NC_000014.9:103332905::TTTTTTTTTTTT	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4284376044	NC_000014.9:103332905::TTTTTTTTTTT… NC_000014.9:103332905::TTTTTTTTTTTTT	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4284376045	NC_000014.9:103332905::TTTTTTTTTTT… NC_000014.9:103332905::TTTTTTTTTTTTTT	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4284376046	NC_000014.9:103332905::TTTTTTTTTTT… NC_000014.9:103332905::TTTTTTTTTTTTTTT	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4284376047	NC_000014.9:103332905::TTTTTTTTTTT… NC_000014.9:103332905::TTTTTTTTTTTTTTTTTTTT	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4284376048	NC_000014.9:103332905::TTTTTTTTTTT… NC_000014.9:103332905::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4284376049	NC_000014.9:103332905::TTTTTTTTTTT… NC_000014.9:103332905::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI
ss2369459667	NC_000014.8:103799242:TTT:	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTTT
ss3220738005	NC_000014.9:103332905:TTTT:	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTTTTT
124444380, ss3220738006	NC_000014.9:103332905:TTTTTTT:	NC_000014.9:103332905:TTTTTTTTTTTT… NC_000014.9:103332905:TTTTTTTTTTTTTTT:TTTTTTTT

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

No publications for rs767676507

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

rs767676507