Name: rs972058107
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.

rs972058107

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:89475911-89475934 (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)₁₃ / del(T)₁₂ / del(T)₁₁ / d…
del(T)₁₃ / del(T)₁₂ / del(T)₁₁ / del(T)₁₀ / del(T)₉ / del(T)₈ / del(T)₇ / del(T)₆ / 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)₁₄ / dup(T)₁₆ / ins(T)₁₆C(T)₈A(T)₂₇ / dup(T)₁₈ / dup(T)₁₉ / dup(T)₂₁ / dup(T)₂₂ / ins(T)₂₈ / ins(T)₄₄
Variation Type: Indel Insertion and Deletion
Frequency: dupT=0.1775 (1345/7576, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: POC1B : 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	7576	TTTTTTTTTTTTTTTTTTTTTTTT=0.7776	TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.1775, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0352, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0020, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0061, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0016, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	0.764165	0.115905	0.119931	32
European	Sub	6666	TTTTTTTTTTTTTTTTTTTTTTTT=0.7477	TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.2015, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0399, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0023, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0069, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0018, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	0.729408	0.133311	0.137281	32
African	Sub	438	TTTTTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	16	TTTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	422	TTTTTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	28	TTTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	22	TTTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	6	TTTTTTTTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	50	TTTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	224	TTTTTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	34	TTTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	136	TTTTTTTTTTTTTTTTTTTTTTTT=0.978	TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.015, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.007, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	0.970149	0.0	0.029851	0

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	7576	(T)₂₄=0.7776	del(T)₁₃=0.0000, del(T)₁₂=0.0000, del(T)₁₁=0.0000, del(T)₁₀=0.0000, del(T)₉=0.0000, del(T)₈=0.0000, del(T)₇=0.0000, del(T)₆=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.1775, dupTT=0.0352, dupTTT=0.0061, dup(T)₄=0.0016, dup(T)₅=0.0000, dup(T)₆=0.0000, dup(T)₇=0.0000, dup(T)₈=0.0020
Allele Frequency Aggregator	European	Sub	6666	(T)₂₄=0.7477	del(T)₁₃=0.0000, del(T)₁₂=0.0000, del(T)₁₁=0.0000, del(T)₁₀=0.0000, del(T)₉=0.0000, del(T)₈=0.0000, del(T)₇=0.0000, del(T)₆=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.2015, dupTT=0.0399, dupTTT=0.0069, dup(T)₄=0.0018, dup(T)₅=0.0000, dup(T)₆=0.0000, dup(T)₇=0.0000, dup(T)₈=0.0023
Allele Frequency Aggregator	African	Sub	438	(T)₂₄=1.000	del(T)₁₃=0.000, del(T)₁₂=0.000, del(T)₁₁=0.000, del(T)₁₀=0.000, del(T)₉=0.000, del(T)₈=0.000, del(T)₇=0.000, del(T)₆=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
Allele Frequency Aggregator	Latin American 2	Sub	224	(T)₂₄=1.000	del(T)₁₃=0.000, del(T)₁₂=0.000, del(T)₁₁=0.000, del(T)₁₀=0.000, del(T)₉=0.000, del(T)₈=0.000, del(T)₇=0.000, del(T)₆=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
Allele Frequency Aggregator	Other	Sub	136	(T)₂₄=0.978	del(T)₁₃=0.000, del(T)₁₂=0.000, del(T)₁₁=0.000, del(T)₁₀=0.000, del(T)₉=0.000, del(T)₈=0.000, del(T)₇=0.000, del(T)₆=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.015, dupTT=0.007, 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
Allele Frequency Aggregator	Latin American 1	Sub	50	(T)₂₄=1.00	del(T)₁₃=0.00, del(T)₁₂=0.00, del(T)₁₁=0.00, del(T)₁₀=0.00, del(T)₉=0.00, del(T)₈=0.00, del(T)₇=0.00, del(T)₆=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
Allele Frequency Aggregator	South Asian	Sub	34	(T)₂₄=1.00	del(T)₁₃=0.00, del(T)₁₂=0.00, del(T)₁₁=0.00, del(T)₁₀=0.00, del(T)₉=0.00, del(T)₈=0.00, del(T)₇=0.00, del(T)₆=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
Allele Frequency Aggregator	Asian	Sub	28	(T)₂₄=1.00	del(T)₁₃=0.00, del(T)₁₂=0.00, del(T)₁₁=0.00, del(T)₁₀=0.00, del(T)₉=0.00, del(T)₈=0.00, del(T)₇=0.00, del(T)₆=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

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 12	NC_000012.12:g.89475922_89475934del
GRCh38.p14 chr 12	NC_000012.12:g.89475923_89475934del
GRCh38.p14 chr 12	NC_000012.12:g.89475924_89475934del
GRCh38.p14 chr 12	NC_000012.12:g.89475925_89475934del
GRCh38.p14 chr 12	NC_000012.12:g.89475926_89475934del
GRCh38.p14 chr 12	NC_000012.12:g.89475927_89475934del
GRCh38.p14 chr 12	NC_000012.12:g.89475928_89475934del
GRCh38.p14 chr 12	NC_000012.12:g.89475929_89475934del
GRCh38.p14 chr 12	NC_000012.12:g.89475930_89475934del
GRCh38.p14 chr 12	NC_000012.12:g.89475931_89475934del
GRCh38.p14 chr 12	NC_000012.12:g.89475932_89475934del
GRCh38.p14 chr 12	NC_000012.12:g.89475933_89475934del
GRCh38.p14 chr 12	NC_000012.12:g.89475934del
GRCh38.p14 chr 12	NC_000012.12:g.89475934dup
GRCh38.p14 chr 12	NC_000012.12:g.89475933_89475934dup
GRCh38.p14 chr 12	NC_000012.12:g.89475932_89475934dup
GRCh38.p14 chr 12	NC_000012.12:g.89475931_89475934dup
GRCh38.p14 chr 12	NC_000012.12:g.89475930_89475934dup
GRCh38.p14 chr 12	NC_000012.12:g.89475929_89475934dup
GRCh38.p14 chr 12	NC_000012.12:g.89475928_89475934dup
GRCh38.p14 chr 12	NC_000012.12:g.89475927_89475934dup
GRCh38.p14 chr 12	NC_000012.12:g.89475926_89475934dup
GRCh38.p14 chr 12	NC_000012.12:g.89475925_89475934dup
GRCh38.p14 chr 12	NC_000012.12:g.89475924_89475934dup
GRCh38.p14 chr 12	NC_000012.12:g.89475923_89475934dup
GRCh38.p14 chr 12	NC_000012.12:g.89475921_89475934dup
GRCh38.p14 chr 12	NC_000012.12:g.89475919_89475934dup
GRCh38.p14 chr 12	NC_000012.12:g.89475911_89475934T[40]CTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT[1]
GRCh38.p14 chr 12	NC_000012.12:g.89475917_89475934dup
GRCh38.p14 chr 12	NC_000012.12:g.89475916_89475934dup
GRCh38.p14 chr 12	NC_000012.12:g.89475914_89475934dup
GRCh38.p14 chr 12	NC_000012.12:g.89475913_89475934dup
GRCh38.p14 chr 12	NC_000012.12:g.89475934_89475935insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 12	NC_000012.12:g.89475934_89475935insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 12	NC_000012.11:g.89869699_89869711del
GRCh37.p13 chr 12	NC_000012.11:g.89869700_89869711del
GRCh37.p13 chr 12	NC_000012.11:g.89869701_89869711del
GRCh37.p13 chr 12	NC_000012.11:g.89869702_89869711del
GRCh37.p13 chr 12	NC_000012.11:g.89869703_89869711del
GRCh37.p13 chr 12	NC_000012.11:g.89869704_89869711del
GRCh37.p13 chr 12	NC_000012.11:g.89869705_89869711del
GRCh37.p13 chr 12	NC_000012.11:g.89869706_89869711del
GRCh37.p13 chr 12	NC_000012.11:g.89869707_89869711del
GRCh37.p13 chr 12	NC_000012.11:g.89869708_89869711del
GRCh37.p13 chr 12	NC_000012.11:g.89869709_89869711del
GRCh37.p13 chr 12	NC_000012.11:g.89869710_89869711del
GRCh37.p13 chr 12	NC_000012.11:g.89869711del
GRCh37.p13 chr 12	NC_000012.11:g.89869711dup
GRCh37.p13 chr 12	NC_000012.11:g.89869710_89869711dup
GRCh37.p13 chr 12	NC_000012.11:g.89869709_89869711dup
GRCh37.p13 chr 12	NC_000012.11:g.89869708_89869711dup
GRCh37.p13 chr 12	NC_000012.11:g.89869707_89869711dup
GRCh37.p13 chr 12	NC_000012.11:g.89869706_89869711dup
GRCh37.p13 chr 12	NC_000012.11:g.89869705_89869711dup
GRCh37.p13 chr 12	NC_000012.11:g.89869704_89869711dup
GRCh37.p13 chr 12	NC_000012.11:g.89869703_89869711dup
GRCh37.p13 chr 12	NC_000012.11:g.89869702_89869711dup
GRCh37.p13 chr 12	NC_000012.11:g.89869701_89869711dup
GRCh37.p13 chr 12	NC_000012.11:g.89869700_89869711dup
GRCh37.p13 chr 12	NC_000012.11:g.89869698_89869711dup
GRCh37.p13 chr 12	NC_000012.11:g.89869696_89869711dup
GRCh37.p13 chr 12	NC_000012.11:g.89869688_89869711T[40]CTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT[1]
GRCh37.p13 chr 12	NC_000012.11:g.89869694_89869711dup
GRCh37.p13 chr 12	NC_000012.11:g.89869693_89869711dup
GRCh37.p13 chr 12	NC_000012.11:g.89869691_89869711dup
GRCh37.p13 chr 12	NC_000012.11:g.89869690_89869711dup
GRCh37.p13 chr 12	NC_000012.11:g.89869711_89869712insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 12	NC_000012.11:g.89869711_89869712insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
POC1B RefSeqGene	NG_041783.1:g.55340_55352del
POC1B RefSeqGene	NG_041783.1:g.55341_55352del
POC1B RefSeqGene	NG_041783.1:g.55342_55352del
POC1B RefSeqGene	NG_041783.1:g.55343_55352del
POC1B RefSeqGene	NG_041783.1:g.55344_55352del
POC1B RefSeqGene	NG_041783.1:g.55345_55352del
POC1B RefSeqGene	NG_041783.1:g.55346_55352del
POC1B RefSeqGene	NG_041783.1:g.55347_55352del
POC1B RefSeqGene	NG_041783.1:g.55348_55352del
POC1B RefSeqGene	NG_041783.1:g.55349_55352del
POC1B RefSeqGene	NG_041783.1:g.55350_55352del
POC1B RefSeqGene	NG_041783.1:g.55351_55352del
POC1B RefSeqGene	NG_041783.1:g.55352del
POC1B RefSeqGene	NG_041783.1:g.55352dup
POC1B RefSeqGene	NG_041783.1:g.55351_55352dup
POC1B RefSeqGene	NG_041783.1:g.55350_55352dup
POC1B RefSeqGene	NG_041783.1:g.55349_55352dup
POC1B RefSeqGene	NG_041783.1:g.55348_55352dup
POC1B RefSeqGene	NG_041783.1:g.55347_55352dup
POC1B RefSeqGene	NG_041783.1:g.55346_55352dup
POC1B RefSeqGene	NG_041783.1:g.55345_55352dup
POC1B RefSeqGene	NG_041783.1:g.55344_55352dup
POC1B RefSeqGene	NG_041783.1:g.55343_55352dup
POC1B RefSeqGene	NG_041783.1:g.55342_55352dup
POC1B RefSeqGene	NG_041783.1:g.55341_55352dup
POC1B RefSeqGene	NG_041783.1:g.55339_55352dup
POC1B RefSeqGene	NG_041783.1:g.55337_55352dup
POC1B RefSeqGene	NG_041783.1:g.55329_55352A[27]TAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
POC1B RefSeqGene	NG_041783.1:g.55335_55352dup
POC1B RefSeqGene	NG_041783.1:g.55334_55352dup
POC1B RefSeqGene	NG_041783.1:g.55332_55352dup
POC1B RefSeqGene	NG_041783.1:g.55331_55352dup
POC1B RefSeqGene	NG_041783.1:g.55352_55353insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
POC1B RefSeqGene	NG_041783.1:g.55352_55353insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Gene: POC1B, POC1 centriolar protein B (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
POC1B transcript variant 2	NM_001199777.2:c.327-3648… NM_001199777.2:c.327-3648_327-3636del	N/A	Intron Variant
POC1B transcript variant 1	NM_172240.3:c.453-3648_45… NM_172240.3:c.453-3648_453-3636del	N/A	Intron Variant
POC1B transcript variant 3	NR_037659.2:n.	N/A	Intron Variant
POC1B transcript variant 4	NR_037660.2:n.	N/A	Intron Variant

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

Not Reported in ClinVar

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

Placement	(T)₂₄=	del(T)₁₃	del(T)₁₂	del(T)₁₁	del(T)₁₀	del(T)₉	del(T)₈	del(T)₇	del(T)₆	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)₁₄	dup(T)₁₆	ins(T)₁₆C(T)₈A(T)₂₇	dup(T)₁₈	dup(T)₁₉	dup(T)₂₁	dup(T)₂₂	ins(T)₂₈	ins(T)₄₄
GRCh38.p14 chr 12	NC_000012.12:g.89475911_89475934=	NC_000012.12:g.89475922_89475934del	NC_000012.12:g.89475923_89475934del	NC_000012.12:g.89475924_89475934del	NC_000012.12:g.89475925_89475934del	NC_000012.12:g.89475926_89475934del	NC_000012.12:g.89475927_89475934del	NC_000012.12:g.89475928_89475934del	NC_000012.12:g.89475929_89475934del	NC_000012.12:g.89475930_89475934del	NC_000012.12:g.89475931_89475934del	NC_000012.12:g.89475932_89475934del	NC_000012.12:g.89475933_89475934del	NC_000012.12:g.89475934del	NC_000012.12:g.89475934dup	NC_000012.12:g.89475933_89475934dup	NC_000012.12:g.89475932_89475934dup	NC_000012.12:g.89475931_89475934dup	NC_000012.12:g.89475930_89475934dup	NC_000012.12:g.89475929_89475934dup	NC_000012.12:g.89475928_89475934dup	NC_000012.12:g.89475927_89475934dup	NC_000012.12:g.89475926_89475934dup	NC_000012.12:g.89475925_89475934dup	NC_000012.12:g.89475924_89475934dup	NC_000012.12:g.89475923_89475934dup	NC_000012.12:g.89475921_89475934dup	NC_000012.12:g.89475919_89475934dup	NC_000012.12:g.89475911_89475934T[40]CTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT[1]	NC_000012.12:g.89475917_89475934dup	NC_000012.12:g.89475916_89475934dup	NC_000012.12:g.89475914_89475934dup	NC_000012.12:g.89475913_89475934dup	NC_000012.12:g.89475934_89475935insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:g.89475934_89475935insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 12	NC_000012.11:g.89869688_89869711=	NC_000012.11:g.89869699_89869711del	NC_000012.11:g.89869700_89869711del	NC_000012.11:g.89869701_89869711del	NC_000012.11:g.89869702_89869711del	NC_000012.11:g.89869703_89869711del	NC_000012.11:g.89869704_89869711del	NC_000012.11:g.89869705_89869711del	NC_000012.11:g.89869706_89869711del	NC_000012.11:g.89869707_89869711del	NC_000012.11:g.89869708_89869711del	NC_000012.11:g.89869709_89869711del	NC_000012.11:g.89869710_89869711del	NC_000012.11:g.89869711del	NC_000012.11:g.89869711dup	NC_000012.11:g.89869710_89869711dup	NC_000012.11:g.89869709_89869711dup	NC_000012.11:g.89869708_89869711dup	NC_000012.11:g.89869707_89869711dup	NC_000012.11:g.89869706_89869711dup	NC_000012.11:g.89869705_89869711dup	NC_000012.11:g.89869704_89869711dup	NC_000012.11:g.89869703_89869711dup	NC_000012.11:g.89869702_89869711dup	NC_000012.11:g.89869701_89869711dup	NC_000012.11:g.89869700_89869711dup	NC_000012.11:g.89869698_89869711dup	NC_000012.11:g.89869696_89869711dup	NC_000012.11:g.89869688_89869711T[40]CTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT[1]	NC_000012.11:g.89869694_89869711dup	NC_000012.11:g.89869693_89869711dup	NC_000012.11:g.89869691_89869711dup	NC_000012.11:g.89869690_89869711dup	NC_000012.11:g.89869711_89869712insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.11:g.89869711_89869712insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
POC1B RefSeqGene	NG_041783.1:g.55329_55352=	NG_041783.1:g.55340_55352del	NG_041783.1:g.55341_55352del	NG_041783.1:g.55342_55352del	NG_041783.1:g.55343_55352del	NG_041783.1:g.55344_55352del	NG_041783.1:g.55345_55352del	NG_041783.1:g.55346_55352del	NG_041783.1:g.55347_55352del	NG_041783.1:g.55348_55352del	NG_041783.1:g.55349_55352del	NG_041783.1:g.55350_55352del	NG_041783.1:g.55351_55352del	NG_041783.1:g.55352del	NG_041783.1:g.55352dup	NG_041783.1:g.55351_55352dup	NG_041783.1:g.55350_55352dup	NG_041783.1:g.55349_55352dup	NG_041783.1:g.55348_55352dup	NG_041783.1:g.55347_55352dup	NG_041783.1:g.55346_55352dup	NG_041783.1:g.55345_55352dup	NG_041783.1:g.55344_55352dup	NG_041783.1:g.55343_55352dup	NG_041783.1:g.55342_55352dup	NG_041783.1:g.55341_55352dup	NG_041783.1:g.55339_55352dup	NG_041783.1:g.55337_55352dup	NG_041783.1:g.55329_55352A[27]TAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]	NG_041783.1:g.55335_55352dup	NG_041783.1:g.55334_55352dup	NG_041783.1:g.55332_55352dup	NG_041783.1:g.55331_55352dup	NG_041783.1:g.55352_55353insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NG_041783.1:g.55352_55353insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
POC1B transcript variant 2	NM_001199777.1:c.327-3636=	NM_001199777.1:c.327-3648_327-3636del	NM_001199777.1:c.327-3647_327-3636del	NM_001199777.1:c.327-3646_327-3636del	NM_001199777.1:c.327-3645_327-3636del	NM_001199777.1:c.327-3644_327-3636del	NM_001199777.1:c.327-3643_327-3636del	NM_001199777.1:c.327-3642_327-3636del	NM_001199777.1:c.327-3641_327-3636del	NM_001199777.1:c.327-3640_327-3636del	NM_001199777.1:c.327-3639_327-3636del	NM_001199777.1:c.327-3638_327-3636del	NM_001199777.1:c.327-3637_327-3636del	NM_001199777.1:c.327-3636del	NM_001199777.1:c.327-3636dup	NM_001199777.1:c.327-3637_327-3636dup	NM_001199777.1:c.327-3638_327-3636dup	NM_001199777.1:c.327-3639_327-3636dup	NM_001199777.1:c.327-3640_327-3636dup	NM_001199777.1:c.327-3641_327-3636dup	NM_001199777.1:c.327-3642_327-3636dup	NM_001199777.1:c.327-3643_327-3636dup	NM_001199777.1:c.327-3644_327-3636dup	NM_001199777.1:c.327-3645_327-3636dup	NM_001199777.1:c.327-3646_327-3636dup	NM_001199777.1:c.327-3647_327-3636dup	NM_001199777.1:c.327-3649_327-3636dup	NM_001199777.1:c.327-3651_327-3636dup	NM_001199777.1:c.327-3636_327-3635insAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAGAAAAAAAAAAAAAAAA	NM_001199777.1:c.327-3653_327-3636dup	NM_001199777.1:c.327-3654_327-3636dup	NM_001199777.1:c.327-3656_327-3636dup	NM_001199777.1:c.327-3657_327-3636dup	NM_001199777.1:c.327-3636_327-3635insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NM_001199777.1:c.327-3636_327-3635insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
POC1B transcript variant 2	NM_001199777.2:c.327-3636=	NM_001199777.2:c.327-3648_327-3636del	NM_001199777.2:c.327-3647_327-3636del	NM_001199777.2:c.327-3646_327-3636del	NM_001199777.2:c.327-3645_327-3636del	NM_001199777.2:c.327-3644_327-3636del	NM_001199777.2:c.327-3643_327-3636del	NM_001199777.2:c.327-3642_327-3636del	NM_001199777.2:c.327-3641_327-3636del	NM_001199777.2:c.327-3640_327-3636del	NM_001199777.2:c.327-3639_327-3636del	NM_001199777.2:c.327-3638_327-3636del	NM_001199777.2:c.327-3637_327-3636del	NM_001199777.2:c.327-3636del	NM_001199777.2:c.327-3636dup	NM_001199777.2:c.327-3637_327-3636dup	NM_001199777.2:c.327-3638_327-3636dup	NM_001199777.2:c.327-3639_327-3636dup	NM_001199777.2:c.327-3640_327-3636dup	NM_001199777.2:c.327-3641_327-3636dup	NM_001199777.2:c.327-3642_327-3636dup	NM_001199777.2:c.327-3643_327-3636dup	NM_001199777.2:c.327-3644_327-3636dup	NM_001199777.2:c.327-3645_327-3636dup	NM_001199777.2:c.327-3646_327-3636dup	NM_001199777.2:c.327-3647_327-3636dup	NM_001199777.2:c.327-3649_327-3636dup	NM_001199777.2:c.327-3651_327-3636dup	NM_001199777.2:c.327-3636_327-3635insAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAGAAAAAAAAAAAAAAAA	NM_001199777.2:c.327-3653_327-3636dup	NM_001199777.2:c.327-3654_327-3636dup	NM_001199777.2:c.327-3656_327-3636dup	NM_001199777.2:c.327-3657_327-3636dup	NM_001199777.2:c.327-3636_327-3635insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NM_001199777.2:c.327-3636_327-3635insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
POC1B transcript variant 1	NM_172240.2:c.453-3636=	NM_172240.2:c.453-3648_453-3636del	NM_172240.2:c.453-3647_453-3636del	NM_172240.2:c.453-3646_453-3636del	NM_172240.2:c.453-3645_453-3636del	NM_172240.2:c.453-3644_453-3636del	NM_172240.2:c.453-3643_453-3636del	NM_172240.2:c.453-3642_453-3636del	NM_172240.2:c.453-3641_453-3636del	NM_172240.2:c.453-3640_453-3636del	NM_172240.2:c.453-3639_453-3636del	NM_172240.2:c.453-3638_453-3636del	NM_172240.2:c.453-3637_453-3636del	NM_172240.2:c.453-3636del	NM_172240.2:c.453-3636dup	NM_172240.2:c.453-3637_453-3636dup	NM_172240.2:c.453-3638_453-3636dup	NM_172240.2:c.453-3639_453-3636dup	NM_172240.2:c.453-3640_453-3636dup	NM_172240.2:c.453-3641_453-3636dup	NM_172240.2:c.453-3642_453-3636dup	NM_172240.2:c.453-3643_453-3636dup	NM_172240.2:c.453-3644_453-3636dup	NM_172240.2:c.453-3645_453-3636dup	NM_172240.2:c.453-3646_453-3636dup	NM_172240.2:c.453-3647_453-3636dup	NM_172240.2:c.453-3649_453-3636dup	NM_172240.2:c.453-3651_453-3636dup	NM_172240.2:c.453-3636_453-3635insAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAGAAAAAAAAAAAAAAAA	NM_172240.2:c.453-3653_453-3636dup	NM_172240.2:c.453-3654_453-3636dup	NM_172240.2:c.453-3656_453-3636dup	NM_172240.2:c.453-3657_453-3636dup	NM_172240.2:c.453-3636_453-3635insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NM_172240.2:c.453-3636_453-3635insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
POC1B transcript variant 1	NM_172240.3:c.453-3636=	NM_172240.3:c.453-3648_453-3636del	NM_172240.3:c.453-3647_453-3636del	NM_172240.3:c.453-3646_453-3636del	NM_172240.3:c.453-3645_453-3636del	NM_172240.3:c.453-3644_453-3636del	NM_172240.3:c.453-3643_453-3636del	NM_172240.3:c.453-3642_453-3636del	NM_172240.3:c.453-3641_453-3636del	NM_172240.3:c.453-3640_453-3636del	NM_172240.3:c.453-3639_453-3636del	NM_172240.3:c.453-3638_453-3636del	NM_172240.3:c.453-3637_453-3636del	NM_172240.3:c.453-3636del	NM_172240.3:c.453-3636dup	NM_172240.3:c.453-3637_453-3636dup	NM_172240.3:c.453-3638_453-3636dup	NM_172240.3:c.453-3639_453-3636dup	NM_172240.3:c.453-3640_453-3636dup	NM_172240.3:c.453-3641_453-3636dup	NM_172240.3:c.453-3642_453-3636dup	NM_172240.3:c.453-3643_453-3636dup	NM_172240.3:c.453-3644_453-3636dup	NM_172240.3:c.453-3645_453-3636dup	NM_172240.3:c.453-3646_453-3636dup	NM_172240.3:c.453-3647_453-3636dup	NM_172240.3:c.453-3649_453-3636dup	NM_172240.3:c.453-3651_453-3636dup	NM_172240.3:c.453-3636_453-3635insAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAGAAAAAAAAAAAAAAAA	NM_172240.3:c.453-3653_453-3636dup	NM_172240.3:c.453-3654_453-3636dup	NM_172240.3:c.453-3656_453-3636dup	NM_172240.3:c.453-3657_453-3636dup	NM_172240.3:c.453-3636_453-3635insAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NM_172240.3:c.453-3636_453-3635insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

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#.

57 SubSNP, 44 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HUMANGENOME_JCVI	ss95603614	Oct 12, 2018 (152)
2	PJP	ss294766376	Oct 12, 2018 (152)
3	PJP	ss294766377	Oct 12, 2018 (152)
4	SWEGEN	ss3010111043	Nov 08, 2017 (151)
5	SWEGEN	ss3010111044	Nov 08, 2017 (151)
6	SWEGEN	ss3010111045	Nov 08, 2017 (151)
7	EVA	ss3833251765	Apr 27, 2020 (154)
8	GNOMAD	ss4256444879	Apr 26, 2021 (155)
9	GNOMAD	ss4256444880	Apr 26, 2021 (155)
10	GNOMAD	ss4256444881	Apr 26, 2021 (155)
11	GNOMAD	ss4256444882	Apr 26, 2021 (155)
12	GNOMAD	ss4256444883	Apr 26, 2021 (155)
13	GNOMAD	ss4256444884	Apr 26, 2021 (155)
14	GNOMAD	ss4256444885	Apr 26, 2021 (155)
15	GNOMAD	ss4256444886	Apr 26, 2021 (155)
16	GNOMAD	ss4256444887	Apr 26, 2021 (155)
17	GNOMAD	ss4256444888	Apr 26, 2021 (155)
18	GNOMAD	ss4256444889	Apr 26, 2021 (155)
19	GNOMAD	ss4256444890	Apr 26, 2021 (155)
20	GNOMAD	ss4256444891	Apr 26, 2021 (155)
21	GNOMAD	ss4256444892	Apr 26, 2021 (155)
22	GNOMAD	ss4256444893	Apr 26, 2021 (155)
23	GNOMAD	ss4256444894	Apr 26, 2021 (155)
24	GNOMAD	ss4256444895	Apr 26, 2021 (155)
25	GNOMAD	ss4256444896	Apr 26, 2021 (155)
26	GNOMAD	ss4256444897	Apr 26, 2021 (155)
27	GNOMAD	ss4256444898	Apr 26, 2021 (155)
28	GNOMAD	ss4256444899	Apr 26, 2021 (155)
29	GNOMAD	ss4256444900	Apr 26, 2021 (155)
30	GNOMAD	ss4256444901	Apr 26, 2021 (155)
31	GNOMAD	ss4256444902	Apr 26, 2021 (155)
32	GNOMAD	ss4256444903	Apr 26, 2021 (155)
33	GNOMAD	ss4256444904	Apr 26, 2021 (155)
34	GNOMAD	ss4256444905	Apr 26, 2021 (155)
35	GNOMAD	ss4256444906	Apr 26, 2021 (155)
36	GNOMAD	ss4256444907	Apr 26, 2021 (155)
37	GNOMAD	ss4256444908	Apr 26, 2021 (155)
38	GNOMAD	ss4256444909	Apr 26, 2021 (155)
39	GNOMAD	ss4256444910	Apr 26, 2021 (155)
40	TOMMO_GENOMICS	ss5207499164	Apr 26, 2021 (155)
41	TOMMO_GENOMICS	ss5207499165	Apr 26, 2021 (155)
42	TOMMO_GENOMICS	ss5207499166	Apr 26, 2021 (155)
43	TOMMO_GENOMICS	ss5207499167	Apr 26, 2021 (155)
44	TOMMO_GENOMICS	ss5207499168	Apr 26, 2021 (155)
45	1000G_HIGH_COVERAGE	ss5291719892	Oct 16, 2022 (156)
46	1000G_HIGH_COVERAGE	ss5291719893	Oct 16, 2022 (156)
47	1000G_HIGH_COVERAGE	ss5291719894	Oct 16, 2022 (156)
48	1000G_HIGH_COVERAGE	ss5291719895	Oct 16, 2022 (156)
49	HUGCELL_USP	ss5486371196	Oct 16, 2022 (156)
50	HUGCELL_USP	ss5486371197	Oct 16, 2022 (156)
51	HUGCELL_USP	ss5486371198	Oct 16, 2022 (156)
52	HUGCELL_USP	ss5486371199	Oct 16, 2022 (156)
53	TOMMO_GENOMICS	ss5757629483	Oct 16, 2022 (156)
54	TOMMO_GENOMICS	ss5757629484	Oct 16, 2022 (156)
55	TOMMO_GENOMICS	ss5757629485	Oct 16, 2022 (156)
56	TOMMO_GENOMICS	ss5757629487	Oct 16, 2022 (156)
57	TOMMO_GENOMICS	ss5757629488	Oct 16, 2022 (156)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 415061038 (NC_000012.12:89475910::T 32128/81078) Row 415061039 (NC_000012.12:89475910::TT 8965/80932) Row 415061040 (NC_000012.12:89475910::TTT 1391/80956)...	-	Apr 26, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 415061038 (NC_000012.12:89475910::T 32128/81078) Row 415061039 (NC_000012.12:89475910::TT 8965/80932) Row 415061040 (NC_000012.12:89475910::TTT 1391/80956)...	-	Apr 26, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 415061038 (NC_000012.12:89475910::T 32128/81078) Row 415061039 (NC_000012.12:89475910::TT 8965/80932) Row 415061040 (NC_000012.12:89475910::TTT 1391/80956)...	-	Apr 26, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 415061038 (NC_000012.12:89475910::T 32128/81078) Row 415061039 (NC_000012.12:89475910::TT 8965/80932) Row 415061040 (NC_000012.12:89475910::TTT 1391/80956)...	-	Apr 26, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 415061038 (NC_000012.12:89475910::T 32128/81078) Row 415061039 (NC_000012.12:89475910::TT 8965/80932) Row 415061040 (NC_000012.12:89475910::TTT 1391/80956)...	-	Apr 26, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 415061038 (NC_000012.12:89475910::T 32128/81078) Row 415061039 (NC_000012.12:89475910::TT 8965/80932) Row 415061040 (NC_000012.12:89475910::TTT 1391/80956)...	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 415061038 (NC_000012.12:89475910::T 32128/81078) Row 415061039 (NC_000012.12:89475910::TT 8965/80932) Row 415061040 (NC_000012.12:89475910::TTT 1391/80956)...	-	Apr 26, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 415061038 (NC_000012.12:89475910::T 32128/81078) Row 415061039 (NC_000012.12:89475910::TT 8965/80932) Row 415061040 (NC_000012.12:89475910::TTT 1391/80956)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 415061038 (NC_000012.12:89475910::T 32128/81078) Row 415061039 (NC_000012.12:89475910::TT 8965/80932) Row 415061040 (NC_000012.12:89475910::TTT 1391/80956)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 415061038 (NC_000012.12:89475910::T 32128/81078) Row 415061039 (NC_000012.12:89475910::TT 8965/80932) Row 415061040 (NC_000012.12:89475910::TTT 1391/80956)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 415061038 (NC_000012.12:89475910::T 32128/81078) Row 415061039 (NC_000012.12:89475910::TT 8965/80932) Row 415061040 (NC_000012.12:89475910::TTT 1391/80956)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 415061038 (NC_000012.12:89475910::T 32128/81078) Row 415061039 (NC_000012.12:89475910::TT 8965/80932) Row 415061040 (NC_000012.12:89475910::TTT 1391/80956)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 415061038 (NC_000012.12:89475910::T 32128/81078) Row 415061039 (NC_000012.12:89475910::TT 8965/80932) Row 415061040 (NC_000012.12:89475910::TTT 1391/80956)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 415061038 (NC_000012.12:89475910::T 32128/81078) Row 415061039 (NC_000012.12:89475910::TT 8965/80932) Row 415061040 (NC_000012.12:89475910::TTT 1391/80956)...	-	Apr 26, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 415061038 (NC_000012.12:89475910::T 32128/81078) Row 415061039 (NC_000012.12:89475910::TT 8965/80932) Row 415061040 (NC_000012.12:89475910::TTT 1391/80956)...	-	Apr 26, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 415061038 (NC_000012.12:89475910::T 32128/81078) Row 415061039 (NC_000012.12:89475910::TT 8965/80932) Row 415061040 (NC_000012.12:89475910::TTT 1391/80956)...	-	Apr 26, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 415061038 (NC_000012.12:89475910::T 32128/81078) Row 415061039 (NC_000012.12:89475910::TT 8965/80932) Row 415061040 (NC_000012.12:89475910::TTT 1391/80956)...	-	Apr 26, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 415061038 (NC_000012.12:89475910::T 32128/81078) Row 415061039 (NC_000012.12:89475910::TT 8965/80932) Row 415061040 (NC_000012.12:89475910::TTT 1391/80956)...	-	Apr 26, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 415061038 (NC_000012.12:89475910::T 32128/81078) Row 415061039 (NC_000012.12:89475910::TT 8965/80932) Row 415061040 (NC_000012.12:89475910::TTT 1391/80956)...	-	Apr 26, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 415061038 (NC_000012.12:89475910::T 32128/81078) Row 415061039 (NC_000012.12:89475910::TT 8965/80932) Row 415061040 (NC_000012.12:89475910::TTT 1391/80956)...	-	Apr 26, 2021 (155)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 415061038 (NC_000012.12:89475910::T 32128/81078) Row 415061039 (NC_000012.12:89475910::TT 8965/80932) Row 415061040 (NC_000012.12:89475910::TTT 1391/80956)...	-	Apr 26, 2021 (155)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 415061038 (NC_000012.12:89475910::T 32128/81078) Row 415061039 (NC_000012.12:89475910::TT 8965/80932) Row 415061040 (NC_000012.12:89475910::TTT 1391/80956)...	-	Apr 26, 2021 (155)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 415061038 (NC_000012.12:89475910::T 32128/81078) Row 415061039 (NC_000012.12:89475910::TT 8965/80932) Row 415061040 (NC_000012.12:89475910::TTT 1391/80956)...	-	Apr 26, 2021 (155)
81	gnomAD - Genomes Submission ignored due to conflicting rows: Row 415061038 (NC_000012.12:89475910::T 32128/81078) Row 415061039 (NC_000012.12:89475910::TT 8965/80932) Row 415061040 (NC_000012.12:89475910::TTT 1391/80956)...	-	Apr 26, 2021 (155)
82	gnomAD - Genomes Submission ignored due to conflicting rows: Row 415061038 (NC_000012.12:89475910::T 32128/81078) Row 415061039 (NC_000012.12:89475910::TT 8965/80932) Row 415061040 (NC_000012.12:89475910::TTT 1391/80956)...	-	Apr 26, 2021 (155)
83	gnomAD - Genomes Submission ignored due to conflicting rows: Row 415061038 (NC_000012.12:89475910::T 32128/81078) Row 415061039 (NC_000012.12:89475910::TT 8965/80932) Row 415061040 (NC_000012.12:89475910::TTT 1391/80956)...	-	Apr 26, 2021 (155)
84	gnomAD - Genomes Submission ignored due to conflicting rows: Row 415061038 (NC_000012.12:89475910::T 32128/81078) Row 415061039 (NC_000012.12:89475910::TT 8965/80932) Row 415061040 (NC_000012.12:89475910::TTT 1391/80956)...	-	Apr 26, 2021 (155)
85	gnomAD - Genomes Submission ignored due to conflicting rows: Row 415061038 (NC_000012.12:89475910::T 32128/81078) Row 415061039 (NC_000012.12:89475910::TT 8965/80932) Row 415061040 (NC_000012.12:89475910::TTT 1391/80956)...	-	Apr 26, 2021 (155)
86	gnomAD - Genomes Submission ignored due to conflicting rows: Row 415061038 (NC_000012.12:89475910::T 32128/81078) Row 415061039 (NC_000012.12:89475910::TT 8965/80932) Row 415061040 (NC_000012.12:89475910::TTT 1391/80956)...	-	Apr 26, 2021 (155)
87	gnomAD - Genomes Submission ignored due to conflicting rows: Row 415061038 (NC_000012.12:89475910::T 32128/81078) Row 415061039 (NC_000012.12:89475910::TT 8965/80932) Row 415061040 (NC_000012.12:89475910::TTT 1391/80956)...	-	Apr 26, 2021 (155)
88	gnomAD - Genomes Submission ignored due to conflicting rows: Row 415061038 (NC_000012.12:89475910::T 32128/81078) Row 415061039 (NC_000012.12:89475910::TT 8965/80932) Row 415061040 (NC_000012.12:89475910::TTT 1391/80956)...	-	Apr 26, 2021 (155)
89	gnomAD - Genomes Submission ignored due to conflicting rows: Row 415061038 (NC_000012.12:89475910::T 32128/81078) Row 415061039 (NC_000012.12:89475910::TT 8965/80932) Row 415061040 (NC_000012.12:89475910::TTT 1391/80956)...	-	Apr 26, 2021 (155)
90	gnomAD - Genomes Submission ignored due to conflicting rows: Row 415061038 (NC_000012.12:89475910::T 32128/81078) Row 415061039 (NC_000012.12:89475910::TT 8965/80932) Row 415061040 (NC_000012.12:89475910::TTT 1391/80956)...	-	Apr 26, 2021 (155)
91	8.3KJPN Submission ignored due to conflicting rows: Row 65468471 (NC_000012.11:89869687::T 2136/15848) Row 65468472 (NC_000012.11:89869687::TT 4802/15848) Row 65468473 (NC_000012.11:89869687::TTT 1413/15848)...	-	Apr 26, 2021 (155)
92	8.3KJPN Submission ignored due to conflicting rows: Row 65468471 (NC_000012.11:89869687::T 2136/15848) Row 65468472 (NC_000012.11:89869687::TT 4802/15848) Row 65468473 (NC_000012.11:89869687::TTT 1413/15848)...	-	Apr 26, 2021 (155)
93	8.3KJPN Submission ignored due to conflicting rows: Row 65468471 (NC_000012.11:89869687::T 2136/15848) Row 65468472 (NC_000012.11:89869687::TT 4802/15848) Row 65468473 (NC_000012.11:89869687::TTT 1413/15848)...	-	Apr 26, 2021 (155)
94	8.3KJPN Submission ignored due to conflicting rows: Row 65468471 (NC_000012.11:89869687::T 2136/15848) Row 65468472 (NC_000012.11:89869687::TT 4802/15848) Row 65468473 (NC_000012.11:89869687::TTT 1413/15848)...	-	Apr 26, 2021 (155)
95	8.3KJPN Submission ignored due to conflicting rows: Row 65468471 (NC_000012.11:89869687::T 2136/15848) Row 65468472 (NC_000012.11:89869687::TT 4802/15848) Row 65468473 (NC_000012.11:89869687::TTT 1413/15848)...	-	Apr 26, 2021 (155)
96	14KJPN Submission ignored due to conflicting rows: Row 91466587 (NC_000012.12:89475910::T 4275/28042) Row 91466588 (NC_000012.12:89475910::TT 9256/28042) Row 91466589 (NC_000012.12:89475910::TTT 2451/28042)...	-	Oct 16, 2022 (156)
97	14KJPN Submission ignored due to conflicting rows: Row 91466587 (NC_000012.12:89475910::T 4275/28042) Row 91466588 (NC_000012.12:89475910::TT 9256/28042) Row 91466589 (NC_000012.12:89475910::TTT 2451/28042)...	-	Oct 16, 2022 (156)
98	14KJPN Submission ignored due to conflicting rows: Row 91466587 (NC_000012.12:89475910::T 4275/28042) Row 91466588 (NC_000012.12:89475910::TT 9256/28042) Row 91466589 (NC_000012.12:89475910::TTT 2451/28042)...	-	Oct 16, 2022 (156)
99	14KJPN Submission ignored due to conflicting rows: Row 91466587 (NC_000012.12:89475910::T 4275/28042) Row 91466588 (NC_000012.12:89475910::TT 9256/28042) Row 91466589 (NC_000012.12:89475910::TTT 2451/28042)...	-	Oct 16, 2022 (156)
100	14KJPN Submission ignored due to conflicting rows: Row 91466587 (NC_000012.12:89475910::T 4275/28042) Row 91466588 (NC_000012.12:89475910::TT 9256/28042) Row 91466589 (NC_000012.12:89475910::TTT 2451/28042)...	-	Oct 16, 2022 (156)
101	ALFA	NC_000012.12 - 89475911	Apr 26, 2021 (155)

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

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss5207499167	NC_000012.11:89869687:TTTTTTTTTTTT… NC_000012.11:89869687:TTTTTTTTTTTTT:	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss4256444910	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTT:	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
13444722632	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss4256444909	NC_000012.12:89475910:TTTTTTTTTTTT:	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
13444722632	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
13444722632	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4256444908	NC_000012.12:89475910:TTTTTTTTTT:	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
13444722632	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss4256444907	NC_000012.12:89475910:TTTTTTTTT:	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
13444722632	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss4256444906	NC_000012.12:89475910:TTTTTTTT:	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
13444722632	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4256444905	NC_000012.12:89475910:TTTTTTT:	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
13444722632	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4256444904	NC_000012.12:89475910:TTTTTT:	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
13444722632	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4256444903	NC_000012.12:89475910:TTTTT:	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4256444902	NC_000012.12:89475910:TTTT:	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
13444722632	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4256444901	NC_000012.12:89475910:TTT:	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
13444722632	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4256444900, ss5486371199	NC_000012.12:89475910:TT:	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
13444722632	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4256444899, ss5486371196	NC_000012.12:89475910:T:	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
13444722632	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss294766376	NC_000012.10:88393819::T	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss294766377	NC_000012.10:88393842::T	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3010111043, ss5207499164	NC_000012.11:89869687::T	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4256444879, ss5486371197, ss5757629483	NC_000012.12:89475910::T	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
13444722632	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss95603614	NT_029419.12:52013017::T	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3010111044, ss3833251765, ss5207499165	NC_000012.11:89869687::TT	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4256444880, ss5291719892, ss5486371198, ss5757629484	NC_000012.12:89475910::TT	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
13444722632	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3010111045, ss5207499166	NC_000012.11:89869687::TTT	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4256444881, ss5291719893, ss5757629485	NC_000012.12:89475910::TTT	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
13444722632	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss5207499168	NC_000012.11:89869687::TTTT	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4256444882, ss5291719894, ss5757629487	NC_000012.12:89475910::TTTT	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
13444722632	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4256444883, ss5757629488	NC_000012.12:89475910::TTTTT	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
13444722632	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4256444884, ss5291719895	NC_000012.12:89475910::TTTTTT	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
13444722632	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4256444885	NC_000012.12:89475910::TTTTTTT	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
13444722632	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4256444886	NC_000012.12:89475910::TTTTTTTT	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
13444722632	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4256444887	NC_000012.12:89475910::TTTTTTTTT	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4256444888	NC_000012.12:89475910::TTTTTTTTTT	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4256444889	NC_000012.12:89475910::TTTTTTTTTTT	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4256444890	NC_000012.12:89475910::TTTTTTTTTTTT	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4256444891	NC_000012.12:89475910::TTTTTTTTTTT… NC_000012.12:89475910::TTTTTTTTTTTTTT	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4256444892	NC_000012.12:89475910::TTTTTTTTTTT… NC_000012.12:89475910::TTTTTTTTTTTTTTTT	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
	NC_000012.12:89475910::TTTTTTTTTTT… NC_000012.12:89475910::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTATTT	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4256444893	NC_000012.12:89475910::TTTTTTTTTTT… NC_000012.12:89475910::TTTTTTTTTTTTTTTTTT	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4256444894	NC_000012.12:89475910::TTTTTTTTTTT… NC_000012.12:89475910::TTTTTTTTTTTTTTTTTTT	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4256444895	NC_000012.12:89475910::TTTTTTTTTTT… NC_000012.12:89475910::TTTTTTTTTTTTTTTTTTTTT	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4256444896	NC_000012.12:89475910::TTTTTTTTTTT… NC_000012.12:89475910::TTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4256444897	NC_000012.12:89475910::TTTTTTTTTTT… NC_000012.12:89475910::TTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4256444898	NC_000012.12:89475910::TTTTTTTTTTT… NC_000012.12:89475910::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss2355966018	NC_000012.11:89869687:TTTTTTTTTTTT:	NC_000012.12:89475910:TTTTTTTTTTTT… NC_000012.12:89475910:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT

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

No publications for rs972058107

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

rs972058107