Name: rs11342554
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.

rs11342554

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr22:22402439-22402463 (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)₁₅ / del(T)₁₄ / del(T)₁₃ / d…
del(T)₁₅ / del(T)₁₄ / 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)₉ / ins(T)₃₇
Variation Type: Indel Insertion and Deletion
Frequency: dupTTT=0.1941 (1104/5688, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: LOC101929255 : 500B Downstream Variant
LOC105379605 : 500B Downstream 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	5688	TTTTTTTTTTTTTTTTTTTTTTTTT=0.6159	TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=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=0.0373, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.1201, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.1941, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0206, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0074, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0047	0.739813	0.146294	0.113893	32
European	Sub	5300	TTTTTTTTTTTTTTTTTTTTTTTTT=0.5892	TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=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=0.0398, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.1285, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.2075, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0221, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0077, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0051	0.713434	0.160888	0.125677	32
African	Sub	102	TTTTTTTTTTTTTTTTTTTTTTTTT=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, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	2	TTTTTTTTTTTTTTTTTTTTTTTTT=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, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
African American	Sub	100	TTTTTTTTTTTTTTTTTTTTTTTTT=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, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Asian	Sub	2	TTTTTTTTTTTTTTTTTTTTTTTTT=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, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
East Asian	Sub	0	TTTTTTTTTTTTTTTTTTTTTTTTT=0	TTTTTTTTTTT=0, TTTTTTTTTTTT=0, TTTTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Other Asian	Sub	2	TTTTTTTTTTTTTTTTTTTTTTTTT=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, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	18	TTTTTTTTTTTTTTTTTTTTTTTTT=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, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	214	TTTTTTTTTTTTTTTTTTTTTTTTT=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, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	10	TTTTTTTTTTTTTTTTTTTTTTTTT=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, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Other	Sub	42	TTTTTTTTTTTTTTTTTTTTTTTTT=0.81	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=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=0.02, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.05, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.10, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.02, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	0.944444	0.055556	0.0	10

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	5688	(T)₂₅=0.6159	del(T)₁₄=0.0000, 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)₅=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0373, dupT=0.1201, dupTT=0.0206, dupTTT=0.1941, dup(T)₄=0.0074, dup(T)₅=0.0047
Allele Frequency Aggregator	European	Sub	5300	(T)₂₅=0.5892	del(T)₁₄=0.0000, 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)₅=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0398, dupT=0.1285, dupTT=0.0221, dupTTT=0.2075, dup(T)₄=0.0077, dup(T)₅=0.0051
Allele Frequency Aggregator	Latin American 2	Sub	214	(T)₂₅=1.000	del(T)₁₄=0.000, 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)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
Allele Frequency Aggregator	African	Sub	102	(T)₂₅=1.000	del(T)₁₄=0.000, 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)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
Allele Frequency Aggregator	Other	Sub	42	(T)₂₅=0.81	del(T)₁₄=0.00, 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)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.02, dupT=0.05, dupTT=0.00, dupTTT=0.10, dup(T)₄=0.02, dup(T)₅=0.00
Allele Frequency Aggregator	Latin American 1	Sub	18	(T)₂₅=1.00	del(T)₁₄=0.00, 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)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
Allele Frequency Aggregator	South Asian	Sub	10	(T)₂₅=1.0	del(T)₁₄=0.0, del(T)₁₃=0.0, del(T)₁₂=0.0, del(T)₁₁=0.0, del(T)₁₀=0.0, del(T)₉=0.0, del(T)₈=0.0, del(T)₇=0.0, del(T)₆=0.0, del(T)₅=0.0, del(T)₄=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dupTTT=0.0, dup(T)₄=0.0, dup(T)₅=0.0
Allele Frequency Aggregator	Asian	Sub	2	(T)₂₅=1.0	del(T)₁₄=0.0, del(T)₁₃=0.0, del(T)₁₂=0.0, del(T)₁₁=0.0, del(T)₁₀=0.0, del(T)₉=0.0, del(T)₈=0.0, del(T)₇=0.0, del(T)₆=0.0, del(T)₅=0.0, del(T)₄=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dupTTT=0.0, dup(T)₄=0.0, dup(T)₅=0.0

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 22	NC_000022.11:g.22402449_22402463del
GRCh38.p14 chr 22	NC_000022.11:g.22402450_22402463del
GRCh38.p14 chr 22	NC_000022.11:g.22402451_22402463del
GRCh38.p14 chr 22	NC_000022.11:g.22402452_22402463del
GRCh38.p14 chr 22	NC_000022.11:g.22402453_22402463del
GRCh38.p14 chr 22	NC_000022.11:g.22402454_22402463del
GRCh38.p14 chr 22	NC_000022.11:g.22402455_22402463del
GRCh38.p14 chr 22	NC_000022.11:g.22402456_22402463del
GRCh38.p14 chr 22	NC_000022.11:g.22402457_22402463del
GRCh38.p14 chr 22	NC_000022.11:g.22402458_22402463del
GRCh38.p14 chr 22	NC_000022.11:g.22402459_22402463del
GRCh38.p14 chr 22	NC_000022.11:g.22402460_22402463del
GRCh38.p14 chr 22	NC_000022.11:g.22402461_22402463del
GRCh38.p14 chr 22	NC_000022.11:g.22402462_22402463del
GRCh38.p14 chr 22	NC_000022.11:g.22402463del
GRCh38.p14 chr 22	NC_000022.11:g.22402463dup
GRCh38.p14 chr 22	NC_000022.11:g.22402462_22402463dup
GRCh38.p14 chr 22	NC_000022.11:g.22402461_22402463dup
GRCh38.p14 chr 22	NC_000022.11:g.22402460_22402463dup
GRCh38.p14 chr 22	NC_000022.11:g.22402459_22402463dup
GRCh38.p14 chr 22	NC_000022.11:g.22402455_22402463dup
GRCh38.p14 chr 22	NC_000022.11:g.22402463_22402464insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 22	NC_000022.10:g.22756793_22756795dup
GRCh37.p13 chr 22	NC_000022.10:g.22756784_22756795del
GRCh37.p13 chr 22	NC_000022.10:g.22756785_22756795del
GRCh37.p13 chr 22	NC_000022.10:g.22756786_22756795del
GRCh37.p13 chr 22	NC_000022.10:g.22756787_22756795del
GRCh37.p13 chr 22	NC_000022.10:g.22756788_22756795del
GRCh37.p13 chr 22	NC_000022.10:g.22756789_22756795del
GRCh37.p13 chr 22	NC_000022.10:g.22756790_22756795del
GRCh37.p13 chr 22	NC_000022.10:g.22756791_22756795del
GRCh37.p13 chr 22	NC_000022.10:g.22756792_22756795del
GRCh37.p13 chr 22	NC_000022.10:g.22756793_22756795del
GRCh37.p13 chr 22	NC_000022.10:g.22756794_22756795del
GRCh37.p13 chr 22	NC_000022.10:g.22756795del
GRCh37.p13 chr 22	NC_000022.10:g.22756795dup
GRCh37.p13 chr 22	NC_000022.10:g.22756794_22756795dup
GRCh37.p13 chr 22	NC_000022.10:g.22756792_22756795dup
GRCh37.p13 chr 22	NC_000022.10:g.22756791_22756795dup
GRCh37.p13 chr 22	NC_000022.10:g.22756790_22756795dup
GRCh37.p13 chr 22	NC_000022.10:g.22756789_22756795dup
GRCh37.p13 chr 22	NC_000022.10:g.22756788_22756795dup
GRCh37.p13 chr 22	NC_000022.10:g.22756784_22756795dup
GRCh37.p13 chr 22	NC_000022.10:g.22756795_22756796insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
IGL genomic region	NG_000002.1:g.380782_380784dup
IGL genomic region	NG_000002.1:g.380773_380784del
IGL genomic region	NG_000002.1:g.380774_380784del
IGL genomic region	NG_000002.1:g.380775_380784del
IGL genomic region	NG_000002.1:g.380776_380784del
IGL genomic region	NG_000002.1:g.380777_380784del
IGL genomic region	NG_000002.1:g.380778_380784del
IGL genomic region	NG_000002.1:g.380779_380784del
IGL genomic region	NG_000002.1:g.380780_380784del
IGL genomic region	NG_000002.1:g.380781_380784del
IGL genomic region	NG_000002.1:g.380782_380784del
IGL genomic region	NG_000002.1:g.380783_380784del
IGL genomic region	NG_000002.1:g.380784del
IGL genomic region	NG_000002.1:g.380784dup
IGL genomic region	NG_000002.1:g.380783_380784dup
IGL genomic region	NG_000002.1:g.380781_380784dup
IGL genomic region	NG_000002.1:g.380780_380784dup
IGL genomic region	NG_000002.1:g.380779_380784dup
IGL genomic region	NG_000002.1:g.380778_380784dup
IGL genomic region	NG_000002.1:g.380777_380784dup
IGL genomic region	NG_000002.1:g.380773_380784dup
IGL genomic region	NG_000002.1:g.380784_380785insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 22 alt locus HSCHR22_1_CTG3	NT_187629.1:g.38110_38111dup
GRCh38.p14 chr 22 alt locus HSCHR22_1_CTG3	NT_187629.1:g.38099_38111del
GRCh38.p14 chr 22 alt locus HSCHR22_1_CTG3	NT_187629.1:g.38100_38111del
GRCh38.p14 chr 22 alt locus HSCHR22_1_CTG3	NT_187629.1:g.38101_38111del
GRCh38.p14 chr 22 alt locus HSCHR22_1_CTG3	NT_187629.1:g.38102_38111del
GRCh38.p14 chr 22 alt locus HSCHR22_1_CTG3	NT_187629.1:g.38103_38111del
GRCh38.p14 chr 22 alt locus HSCHR22_1_CTG3	NT_187629.1:g.38104_38111del
GRCh38.p14 chr 22 alt locus HSCHR22_1_CTG3	NT_187629.1:g.38105_38111del
GRCh38.p14 chr 22 alt locus HSCHR22_1_CTG3	NT_187629.1:g.38106_38111del
GRCh38.p14 chr 22 alt locus HSCHR22_1_CTG3	NT_187629.1:g.38107_38111del
GRCh38.p14 chr 22 alt locus HSCHR22_1_CTG3	NT_187629.1:g.38108_38111del
GRCh38.p14 chr 22 alt locus HSCHR22_1_CTG3	NT_187629.1:g.38109_38111del
GRCh38.p14 chr 22 alt locus HSCHR22_1_CTG3	NT_187629.1:g.38110_38111del
GRCh38.p14 chr 22 alt locus HSCHR22_1_CTG3	NT_187629.1:g.38111del
GRCh38.p14 chr 22 alt locus HSCHR22_1_CTG3	NT_187629.1:g.38111dup
GRCh38.p14 chr 22 alt locus HSCHR22_1_CTG3	NT_187629.1:g.38109_38111dup
GRCh38.p14 chr 22 alt locus HSCHR22_1_CTG3	NT_187629.1:g.38108_38111dup
GRCh38.p14 chr 22 alt locus HSCHR22_1_CTG3	NT_187629.1:g.38107_38111dup
GRCh38.p14 chr 22 alt locus HSCHR22_1_CTG3	NT_187629.1:g.38106_38111dup
GRCh38.p14 chr 22 alt locus HSCHR22_1_CTG3	NT_187629.1:g.38105_38111dup
GRCh38.p14 chr 22 alt locus HSCHR22_1_CTG3	NT_187629.1:g.38101_38111dup
GRCh38.p14 chr 22 alt locus HSCHR22_1_CTG3	NT_187629.1:g.38111_38112insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Gene: LOC101929255, uncharacterized LOC101929255 (minus strand) : 500B Downstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
LOC101929255 transcript variant X2	XR_007068016.1:n.	N/A	Downstream Transcript Variant
LOC101929255 transcript variant X1	XR_938052.4:n.	N/A	Downstream Transcript Variant

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

Not Reported in ClinVar

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

Placement	(T)₂₅=	del(T)₁₅	del(T)₁₄	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)₉	ins(T)₃₇
GRCh38.p14 chr 22	NC_000022.11:g.22402439_22402463=	NC_000022.11:g.22402449_22402463del	NC_000022.11:g.22402450_22402463del	NC_000022.11:g.22402451_22402463del	NC_000022.11:g.22402452_22402463del	NC_000022.11:g.22402453_22402463del	NC_000022.11:g.22402454_22402463del	NC_000022.11:g.22402455_22402463del	NC_000022.11:g.22402456_22402463del	NC_000022.11:g.22402457_22402463del	NC_000022.11:g.22402458_22402463del	NC_000022.11:g.22402459_22402463del	NC_000022.11:g.22402460_22402463del	NC_000022.11:g.22402461_22402463del	NC_000022.11:g.22402462_22402463del	NC_000022.11:g.22402463del	NC_000022.11:g.22402463dup	NC_000022.11:g.22402462_22402463dup	NC_000022.11:g.22402461_22402463dup	NC_000022.11:g.22402460_22402463dup	NC_000022.11:g.22402459_22402463dup	NC_000022.11:g.22402455_22402463dup	NC_000022.11:g.22402463_22402464insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 22	NC_000022.10:g.22756793_22756795dup	NC_000022.10:g.22756784_22756795del	NC_000022.10:g.22756785_22756795del	NC_000022.10:g.22756786_22756795del	NC_000022.10:g.22756787_22756795del	NC_000022.10:g.22756788_22756795del	NC_000022.10:g.22756789_22756795del	NC_000022.10:g.22756790_22756795del	NC_000022.10:g.22756791_22756795del	NC_000022.10:g.22756792_22756795del	NC_000022.10:g.22756793_22756795del	NC_000022.10:g.22756794_22756795del	NC_000022.10:g.22756795del	NC_000022.10:g.22756774_22756795=	NC_000022.10:g.22756795dup	NC_000022.10:g.22756794_22756795dup	NC_000022.10:g.22756792_22756795dup	NC_000022.10:g.22756791_22756795dup	NC_000022.10:g.22756790_22756795dup	NC_000022.10:g.22756789_22756795dup	NC_000022.10:g.22756788_22756795dup	NC_000022.10:g.22756784_22756795dup	NC_000022.10:g.22756795_22756796insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
IGL genomic region	NG_000002.1:g.380782_380784dup	NG_000002.1:g.380773_380784del	NG_000002.1:g.380774_380784del	NG_000002.1:g.380775_380784del	NG_000002.1:g.380776_380784del	NG_000002.1:g.380777_380784del	NG_000002.1:g.380778_380784del	NG_000002.1:g.380779_380784del	NG_000002.1:g.380780_380784del	NG_000002.1:g.380781_380784del	NG_000002.1:g.380782_380784del	NG_000002.1:g.380783_380784del	NG_000002.1:g.380784del	NG_000002.1:g.380763_380784=	NG_000002.1:g.380784dup	NG_000002.1:g.380783_380784dup	NG_000002.1:g.380781_380784dup	NG_000002.1:g.380780_380784dup	NG_000002.1:g.380779_380784dup	NG_000002.1:g.380778_380784dup	NG_000002.1:g.380777_380784dup	NG_000002.1:g.380773_380784dup	NG_000002.1:g.380784_380785insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 22 alt locus HSCHR22_1_CTG3	NT_187629.1:g.38110_38111dup	NT_187629.1:g.38099_38111del	NT_187629.1:g.38100_38111del	NT_187629.1:g.38101_38111del	NT_187629.1:g.38102_38111del	NT_187629.1:g.38103_38111del	NT_187629.1:g.38104_38111del	NT_187629.1:g.38105_38111del	NT_187629.1:g.38106_38111del	NT_187629.1:g.38107_38111del	NT_187629.1:g.38108_38111del	NT_187629.1:g.38109_38111del	NT_187629.1:g.38110_38111del	NT_187629.1:g.38111del	NT_187629.1:g.38089_38111=	NT_187629.1:g.38111dup	NT_187629.1:g.38109_38111dup	NT_187629.1:g.38108_38111dup	NT_187629.1:g.38107_38111dup	NT_187629.1:g.38106_38111dup	NT_187629.1:g.38105_38111dup	NT_187629.1:g.38101_38111dup	NT_187629.1:g.38111_38112insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

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, 33 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss82069396	Sep 08, 2015 (146)
2	HUMANGENOME_JCVI	ss96108801	Feb 13, 2009 (130)
3	PJP	ss295072872	May 09, 2011 (134)
4	SWEGEN	ss3019129388	Nov 08, 2017 (151)
5	MCHAISSO	ss3064882573	Nov 08, 2017 (151)
6	MCHAISSO	ss3065850215	Nov 08, 2017 (151)
7	EVA_DECODE	ss3707988058	Jul 13, 2019 (153)
8	EVA_DECODE	ss3707988059	Jul 13, 2019 (153)
9	EVA_DECODE	ss3707988060	Jul 13, 2019 (153)
10	EVA_DECODE	ss3707988061	Jul 13, 2019 (153)
11	EVA_DECODE	ss3707988062	Jul 13, 2019 (153)
12	EVA_DECODE	ss3707988063	Jul 13, 2019 (153)
13	PACBIO	ss3788798953	Jul 13, 2019 (153)
14	PACBIO	ss3793669396	Jul 13, 2019 (153)
15	PACBIO	ss3798555741	Jul 13, 2019 (153)
16	EVA	ss3835936259	Apr 27, 2020 (154)
17	GNOMAD	ss4362851730	Apr 27, 2021 (155)
18	GNOMAD	ss4362851731	Apr 27, 2021 (155)
19	GNOMAD	ss4362851732	Apr 27, 2021 (155)
20	GNOMAD	ss4362851733	Apr 27, 2021 (155)
21	GNOMAD	ss4362851734	Apr 27, 2021 (155)
22	GNOMAD	ss4362851735	Apr 27, 2021 (155)
23	GNOMAD	ss4362851736	Apr 27, 2021 (155)
24	GNOMAD	ss4362851737	Apr 27, 2021 (155)
25	GNOMAD	ss4362851738	Apr 27, 2021 (155)
26	GNOMAD	ss4362851739	Apr 27, 2021 (155)
27	GNOMAD	ss4362851740	Apr 27, 2021 (155)
28	GNOMAD	ss4362851741	Apr 27, 2021 (155)
29	GNOMAD	ss4362851742	Apr 27, 2021 (155)
30	GNOMAD	ss4362851743	Apr 27, 2021 (155)
31	GNOMAD	ss4362851744	Apr 27, 2021 (155)
32	GNOMAD	ss4362851745	Apr 27, 2021 (155)
33	GNOMAD	ss4362851746	Apr 27, 2021 (155)
34	GNOMAD	ss4362851747	Apr 27, 2021 (155)
35	GNOMAD	ss4362851748	Apr 27, 2021 (155)
36	GNOMAD	ss4362851749	Apr 27, 2021 (155)
37	TOMMO_GENOMICS	ss5232146595	Apr 27, 2021 (155)
38	TOMMO_GENOMICS	ss5232146596	Apr 27, 2021 (155)
39	TOMMO_GENOMICS	ss5232146597	Apr 27, 2021 (155)
40	TOMMO_GENOMICS	ss5232146598	Apr 27, 2021 (155)
41	TOMMO_GENOMICS	ss5232146599	Apr 27, 2021 (155)
42	TOMMO_GENOMICS	ss5232146600	Apr 27, 2021 (155)
43	1000G_HIGH_COVERAGE	ss5310725835	Oct 16, 2022 (156)
44	1000G_HIGH_COVERAGE	ss5310725836	Oct 16, 2022 (156)
45	1000G_HIGH_COVERAGE	ss5310725837	Oct 16, 2022 (156)
46	HUGCELL_USP	ss5502617667	Oct 16, 2022 (156)
47	HUGCELL_USP	ss5502617668	Oct 16, 2022 (156)
48	HUGCELL_USP	ss5502617669	Oct 16, 2022 (156)
49	HUGCELL_USP	ss5502617670	Oct 16, 2022 (156)
50	TOMMO_GENOMICS	ss5793118144	Oct 16, 2022 (156)
51	TOMMO_GENOMICS	ss5793118145	Oct 16, 2022 (156)
52	TOMMO_GENOMICS	ss5793118146	Oct 16, 2022 (156)
53	TOMMO_GENOMICS	ss5793118147	Oct 16, 2022 (156)
54	TOMMO_GENOMICS	ss5793118148	Oct 16, 2022 (156)
55	TOMMO_GENOMICS	ss5793118149	Oct 16, 2022 (156)
56	EVA	ss5821926497	Oct 16, 2022 (156)
57	EVA	ss5821926498	Oct 16, 2022 (156)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 567038587 (NC_000022.11:22402438::T 399/70244) Row 567038588 (NC_000022.11:22402438::TT 167/70242) Row 567038589 (NC_000022.11:22402438::TTT 16/70262)...	-	Apr 27, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 567038587 (NC_000022.11:22402438::T 399/70244) Row 567038588 (NC_000022.11:22402438::TT 167/70242) Row 567038589 (NC_000022.11:22402438::TTT 16/70262)...	-	Apr 27, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 567038587 (NC_000022.11:22402438::T 399/70244) Row 567038588 (NC_000022.11:22402438::TT 167/70242) Row 567038589 (NC_000022.11:22402438::TTT 16/70262)...	-	Apr 27, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 567038587 (NC_000022.11:22402438::T 399/70244) Row 567038588 (NC_000022.11:22402438::TT 167/70242) Row 567038589 (NC_000022.11:22402438::TTT 16/70262)...	-	Apr 27, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 567038587 (NC_000022.11:22402438::T 399/70244) Row 567038588 (NC_000022.11:22402438::TT 167/70242) Row 567038589 (NC_000022.11:22402438::TTT 16/70262)...	-	Apr 27, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 567038587 (NC_000022.11:22402438::T 399/70244) Row 567038588 (NC_000022.11:22402438::TT 167/70242) Row 567038589 (NC_000022.11:22402438::TTT 16/70262)...	-	Apr 27, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 567038587 (NC_000022.11:22402438::T 399/70244) Row 567038588 (NC_000022.11:22402438::TT 167/70242) Row 567038589 (NC_000022.11:22402438::TTT 16/70262)...	-	Apr 27, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 567038587 (NC_000022.11:22402438::T 399/70244) Row 567038588 (NC_000022.11:22402438::TT 167/70242) Row 567038589 (NC_000022.11:22402438::TTT 16/70262)...	-	Apr 27, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 567038587 (NC_000022.11:22402438::T 399/70244) Row 567038588 (NC_000022.11:22402438::TT 167/70242) Row 567038589 (NC_000022.11:22402438::TTT 16/70262)...	-	Apr 27, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 567038587 (NC_000022.11:22402438::T 399/70244) Row 567038588 (NC_000022.11:22402438::TT 167/70242) Row 567038589 (NC_000022.11:22402438::TTT 16/70262)...	-	Apr 27, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 567038587 (NC_000022.11:22402438::T 399/70244) Row 567038588 (NC_000022.11:22402438::TT 167/70242) Row 567038589 (NC_000022.11:22402438::TTT 16/70262)...	-	Apr 27, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 567038587 (NC_000022.11:22402438::T 399/70244) Row 567038588 (NC_000022.11:22402438::TT 167/70242) Row 567038589 (NC_000022.11:22402438::TTT 16/70262)...	-	Apr 27, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 567038587 (NC_000022.11:22402438::T 399/70244) Row 567038588 (NC_000022.11:22402438::TT 167/70242) Row 567038589 (NC_000022.11:22402438::TTT 16/70262)...	-	Apr 27, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 567038587 (NC_000022.11:22402438::T 399/70244) Row 567038588 (NC_000022.11:22402438::TT 167/70242) Row 567038589 (NC_000022.11:22402438::TTT 16/70262)...	-	Apr 27, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 567038587 (NC_000022.11:22402438::T 399/70244) Row 567038588 (NC_000022.11:22402438::TT 167/70242) Row 567038589 (NC_000022.11:22402438::TTT 16/70262)...	-	Apr 27, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 567038587 (NC_000022.11:22402438::T 399/70244) Row 567038588 (NC_000022.11:22402438::TT 167/70242) Row 567038589 (NC_000022.11:22402438::TTT 16/70262)...	-	Apr 27, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 567038587 (NC_000022.11:22402438::T 399/70244) Row 567038588 (NC_000022.11:22402438::TT 167/70242) Row 567038589 (NC_000022.11:22402438::TTT 16/70262)...	-	Apr 27, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 567038587 (NC_000022.11:22402438::T 399/70244) Row 567038588 (NC_000022.11:22402438::TT 167/70242) Row 567038589 (NC_000022.11:22402438::TTT 16/70262)...	-	Apr 27, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 567038587 (NC_000022.11:22402438::T 399/70244) Row 567038588 (NC_000022.11:22402438::TT 167/70242) Row 567038589 (NC_000022.11:22402438::TTT 16/70262)...	-	Apr 27, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 567038587 (NC_000022.11:22402438::T 399/70244) Row 567038588 (NC_000022.11:22402438::TT 167/70242) Row 567038589 (NC_000022.11:22402438::TTT 16/70262)...	-	Apr 27, 2021 (155)
78	8.3KJPN Submission ignored due to conflicting rows: Row 90115902 (NC_000022.10:22756773:T: 1992/15444) Row 90115903 (NC_000022.10:22756773::T 4020/15444) Row 90115904 (NC_000022.10:22756773::TTT 1960/15444)...	-	Apr 27, 2021 (155)
79	8.3KJPN Submission ignored due to conflicting rows: Row 90115902 (NC_000022.10:22756773:T: 1992/15444) Row 90115903 (NC_000022.10:22756773::T 4020/15444) Row 90115904 (NC_000022.10:22756773::TTT 1960/15444)...	-	Apr 27, 2021 (155)
80	8.3KJPN Submission ignored due to conflicting rows: Row 90115902 (NC_000022.10:22756773:T: 1992/15444) Row 90115903 (NC_000022.10:22756773::T 4020/15444) Row 90115904 (NC_000022.10:22756773::TTT 1960/15444)...	-	Apr 27, 2021 (155)
81	8.3KJPN Submission ignored due to conflicting rows: Row 90115902 (NC_000022.10:22756773:T: 1992/15444) Row 90115903 (NC_000022.10:22756773::T 4020/15444) Row 90115904 (NC_000022.10:22756773::TTT 1960/15444)...	-	Apr 27, 2021 (155)
82	8.3KJPN Submission ignored due to conflicting rows: Row 90115902 (NC_000022.10:22756773:T: 1992/15444) Row 90115903 (NC_000022.10:22756773::T 4020/15444) Row 90115904 (NC_000022.10:22756773::TTT 1960/15444)...	-	Apr 27, 2021 (155)
83	8.3KJPN Submission ignored due to conflicting rows: Row 90115902 (NC_000022.10:22756773:T: 1992/15444) Row 90115903 (NC_000022.10:22756773::T 4020/15444) Row 90115904 (NC_000022.10:22756773::TTT 1960/15444)...	-	Apr 27, 2021 (155)
84	14KJPN Submission ignored due to conflicting rows: Row 126955248 (NC_000022.11:22402438:TTTT: 3173/24000) Row 126955249 (NC_000022.11:22402438:TTTTTTT: 103/24000) Row 126955250 (NC_000022.11:22402438:TTT: 2926/24000)...	-	Oct 16, 2022 (156)
85	14KJPN Submission ignored due to conflicting rows: Row 126955248 (NC_000022.11:22402438:TTTT: 3173/24000) Row 126955249 (NC_000022.11:22402438:TTTTTTT: 103/24000) Row 126955250 (NC_000022.11:22402438:TTT: 2926/24000)...	-	Oct 16, 2022 (156)
86	14KJPN Submission ignored due to conflicting rows: Row 126955248 (NC_000022.11:22402438:TTTT: 3173/24000) Row 126955249 (NC_000022.11:22402438:TTTTTTT: 103/24000) Row 126955250 (NC_000022.11:22402438:TTT: 2926/24000)...	-	Oct 16, 2022 (156)
87	14KJPN Submission ignored due to conflicting rows: Row 126955248 (NC_000022.11:22402438:TTTT: 3173/24000) Row 126955249 (NC_000022.11:22402438:TTTTTTT: 103/24000) Row 126955250 (NC_000022.11:22402438:TTT: 2926/24000)...	-	Oct 16, 2022 (156)
88	14KJPN Submission ignored due to conflicting rows: Row 126955248 (NC_000022.11:22402438:TTTT: 3173/24000) Row 126955249 (NC_000022.11:22402438:TTTTTTT: 103/24000) Row 126955250 (NC_000022.11:22402438:TTT: 2926/24000)...	-	Oct 16, 2022 (156)
89	14KJPN Submission ignored due to conflicting rows: Row 126955248 (NC_000022.11:22402438:TTTT: 3173/24000) Row 126955249 (NC_000022.11:22402438:TTTTTTT: 103/24000) Row 126955250 (NC_000022.11:22402438:TTT: 2926/24000)...	-	Oct 16, 2022 (156)
90	ALFA	NC_000022.11 - 22402439	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).

Associated ID	History Updated (Build)
rs60166875	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4362851749	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTT:	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
ss4362851748	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTT:	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
6515665454	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss4362851747	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTT:	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
6515665454	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
6515665454	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4362851746	NC_000022.11:22402438:TTTTTTTTTTT:	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
6515665454	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss4362851745	NC_000022.11:22402438:TTTTTTTTTT:	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
6515665454	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
6515665454	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4362851744, ss5310725836, ss5793118149	NC_000022.11:22402438:TTTTTTTT:	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
6515665454	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4362851743, ss5310725837, ss5793118145	NC_000022.11:22402438:TTTTTTT:	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
6515665454	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4362851742	NC_000022.11:22402438:TTTTTT:	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
6515665454	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss5232146600	NC_000022.10:22756773:TTTTT:	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss3707988058, ss4362851741	NC_000022.11:22402438:TTTTT:	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
6515665454	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss3019129388, ss5232146598	NC_000022.10:22756773:TTTT:	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4362851740, ss5310725835, ss5502617667, ss5793118144	NC_000022.11:22402438:TTTT:	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
6515665454	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss3707988059	NC_000022.11:22402439:TTTT:	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4362851739, ss5502617668, ss5793118146	NC_000022.11:22402438:TTT:	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
6515665454	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss3707988060	NC_000022.11:22402440:TTT:	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss3064882573, ss3065850215, ss4362851738, ss5502617670, ss5793118147	NC_000022.11:22402438:TT:	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
6515665454	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3707988061	NC_000022.11:22402441:TT:	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss82069396	NC_000022.8:21081348:T:	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss295072872	NC_000022.9:21086773:T:	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3835936259, ss5232146595	NC_000022.10:22756773:T:	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4362851737, ss5502617669, ss5793118148	NC_000022.11:22402438:T:	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
6515665454	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3707988062	NC_000022.11:22402442:T:	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss5232146596	NC_000022.10:22756773::T	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4362851730	NC_000022.11:22402438::T	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
6515665454	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3707988063	NC_000022.11:22402443::T	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss96108801	NT_011520.12:2147342::T	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss5232146599, ss5821926498	NC_000022.10:22756773::TT	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4362851731	NC_000022.11:22402438::TT	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
6515665454	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3788798953, ss3793669396, ss3798555741, ss5232146597, ss5821926497	NC_000022.10:22756773::TTT	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4362851732	NC_000022.11:22402438::TTT	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
6515665454	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4362851733	NC_000022.11:22402438::TTTT	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
6515665454	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4362851734	NC_000022.11:22402438::TTTTT	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
6515665454	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4362851735	NC_000022.11:22402438::TTTTTTTTT	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4362851736	NC_000022.11:22402438::TTTTTTTTTTT… NC_000022.11:22402438::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3374534614	NC_000022.11:22402438:TTTTTTTTT:	NC_000022.11:22402438:TTTTTTTTTTTT… NC_000022.11:22402438:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

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

No publications for rs11342554

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
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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.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs11342554