Name: rs11443542
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.

rs11443542

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr12:50090822-50090841 (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)₁₀ / del(T)₉ / del(T)₈ / del…
del(T)₁₀ / del(T)₉ / del(T)₈ / del(T)₇ / del(T)₆ / 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)₁₅ / dup(T)₁₆ / dup(T)₁₉ / dup(T)₂₀ / ins(T)₂₁ / ins(T)₂₂ / ins(T)₂₃ / ins(T)₂₆ / ins(T)₂₉
Variation Type: Indel Insertion and Deletion
Frequency: del(T)₁₀=0.000 (0/158, ALFA)
del(T)₉=0.000 (0/158, ALFA)
del(T)₈=0.000 (0/158, ALFA) (+ 13 more)
del(T)₇=0.000 (0/158, ALFA)
del(T)₆=0.000 (0/158, ALFA)
del(T)₄=0.000 (0/158, ALFA)
delTTT=0.000 (0/158, ALFA)
delTT=0.000 (0/158, ALFA)
delT=0.000 (0/158, ALFA)
dupT=0.000 (0/158, ALFA)
dupTT=0.000 (0/158, ALFA)
dupTTT=0.000 (0/158, ALFA)
dup(T)₄=0.000 (0/158, ALFA)
dup(T)₅=0.000 (0/158, ALFA)
dup(T)₆=0.000 (0/158, ALFA)
(T)₂₀=0.05 (2/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SMARCD1 : 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	158	TTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
European	Sub	58	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African	Sub	72	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African Others	Sub	0	TTTTTTTTTTTTTTTTTTTT=0	TTTTTTTTTT=0, TTTTTTTTTTT=0, TTTTTTTTTTTT=0, TTTTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
African American	Sub	72	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Asian	Sub	2	TTTTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
East Asian	Sub	2	TTTTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Other Asian	Sub	0	TTTTTTTTTTTTTTTTTTTT=0	TTTTTTTTTT=0, TTTTTTTTTTT=0, TTTTTTTTTTTT=0, TTTTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Latin American 1	Sub	2	TTTTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Latin American 2	Sub	18	TTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	2	TTTTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Other	Sub	4	TTTTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	158	(T)₂₀=1.000	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
Allele Frequency Aggregator	African	Sub	72	(T)₂₀=1.00	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
Allele Frequency Aggregator	European	Sub	58	(T)₂₀=1.00	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
Allele Frequency Aggregator	Latin American 2	Sub	18	(T)₂₀=1.00	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
Allele Frequency Aggregator	Other	Sub	4	(T)₂₀=1.0	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)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, dup(T)₆=0.0
Allele Frequency Aggregator	Latin American 1	Sub	2	(T)₂₀=1.0	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)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, dup(T)₆=0.0
Allele Frequency Aggregator	South Asian	Sub	2	(T)₂₀=1.0	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)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, dup(T)₆=0.0
Allele Frequency Aggregator	Asian	Sub	2	(T)₂₀=1.0	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)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, dup(T)₆=0.0
The Danish reference pan genome	Danish	Study-wide	40	- No frequency provided	dupTTT=0.95

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.50090832_50090841del
GRCh38.p14 chr 12	NC_000012.12:g.50090833_50090841del
GRCh38.p14 chr 12	NC_000012.12:g.50090834_50090841del
GRCh38.p14 chr 12	NC_000012.12:g.50090835_50090841del
GRCh38.p14 chr 12	NC_000012.12:g.50090836_50090841del
GRCh38.p14 chr 12	NC_000012.12:g.50090838_50090841del
GRCh38.p14 chr 12	NC_000012.12:g.50090839_50090841del
GRCh38.p14 chr 12	NC_000012.12:g.50090840_50090841del
GRCh38.p14 chr 12	NC_000012.12:g.50090841del
GRCh38.p14 chr 12	NC_000012.12:g.50090841dup
GRCh38.p14 chr 12	NC_000012.12:g.50090840_50090841dup
GRCh38.p14 chr 12	NC_000012.12:g.50090839_50090841dup
GRCh38.p14 chr 12	NC_000012.12:g.50090838_50090841dup
GRCh38.p14 chr 12	NC_000012.12:g.50090837_50090841dup
GRCh38.p14 chr 12	NC_000012.12:g.50090836_50090841dup
GRCh38.p14 chr 12	NC_000012.12:g.50090835_50090841dup
GRCh38.p14 chr 12	NC_000012.12:g.50090834_50090841dup
GRCh38.p14 chr 12	NC_000012.12:g.50090833_50090841dup
GRCh38.p14 chr 12	NC_000012.12:g.50090832_50090841dup
GRCh38.p14 chr 12	NC_000012.12:g.50090831_50090841dup
GRCh38.p14 chr 12	NC_000012.12:g.50090830_50090841dup
GRCh38.p14 chr 12	NC_000012.12:g.50090827_50090841dup
GRCh38.p14 chr 12	NC_000012.12:g.50090826_50090841dup
GRCh38.p14 chr 12	NC_000012.12:g.50090823_50090841dup
GRCh38.p14 chr 12	NC_000012.12:g.50090822_50090841dup
GRCh38.p14 chr 12	NC_000012.12:g.50090841_50090842insTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 12	NC_000012.12:g.50090841_50090842insTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 12	NC_000012.12:g.50090841_50090842insTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 12	NC_000012.12:g.50090841_50090842insTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 12	NC_000012.12:g.50090841_50090842insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 12	NC_000012.11:g.50484615_50484624del
GRCh37.p13 chr 12	NC_000012.11:g.50484616_50484624del
GRCh37.p13 chr 12	NC_000012.11:g.50484617_50484624del
GRCh37.p13 chr 12	NC_000012.11:g.50484618_50484624del
GRCh37.p13 chr 12	NC_000012.11:g.50484619_50484624del
GRCh37.p13 chr 12	NC_000012.11:g.50484621_50484624del
GRCh37.p13 chr 12	NC_000012.11:g.50484622_50484624del
GRCh37.p13 chr 12	NC_000012.11:g.50484623_50484624del
GRCh37.p13 chr 12	NC_000012.11:g.50484624del
GRCh37.p13 chr 12	NC_000012.11:g.50484624dup
GRCh37.p13 chr 12	NC_000012.11:g.50484623_50484624dup
GRCh37.p13 chr 12	NC_000012.11:g.50484622_50484624dup
GRCh37.p13 chr 12	NC_000012.11:g.50484621_50484624dup
GRCh37.p13 chr 12	NC_000012.11:g.50484620_50484624dup
GRCh37.p13 chr 12	NC_000012.11:g.50484619_50484624dup
GRCh37.p13 chr 12	NC_000012.11:g.50484618_50484624dup
GRCh37.p13 chr 12	NC_000012.11:g.50484617_50484624dup
GRCh37.p13 chr 12	NC_000012.11:g.50484616_50484624dup
GRCh37.p13 chr 12	NC_000012.11:g.50484615_50484624dup
GRCh37.p13 chr 12	NC_000012.11:g.50484614_50484624dup
GRCh37.p13 chr 12	NC_000012.11:g.50484613_50484624dup
GRCh37.p13 chr 12	NC_000012.11:g.50484610_50484624dup
GRCh37.p13 chr 12	NC_000012.11:g.50484609_50484624dup
GRCh37.p13 chr 12	NC_000012.11:g.50484606_50484624dup
GRCh37.p13 chr 12	NC_000012.11:g.50484605_50484624dup
GRCh37.p13 chr 12	NC_000012.11:g.50484624_50484625insTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 12	NC_000012.11:g.50484624_50484625insTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 12	NC_000012.11:g.50484624_50484625insTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 12	NC_000012.11:g.50484624_50484625insTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 12	NC_000012.11:g.50484624_50484625insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Gene: SMARCD1, SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SMARCD1 transcript variant 1	NM_003076.5:c.1133+242_11… NM_003076.5:c.1133+242_1133+251del	N/A	Intron Variant
SMARCD1 transcript variant 2	NM_139071.3:c.1133+242_11… NM_139071.3:c.1133+242_1133+251del	N/A	Intron Variant
SMARCD1 transcript variant X3	XM_005269107.5:c.1010+242… XM_005269107.5:c.1010+242_1010+251del	N/A	Intron Variant
SMARCD1 transcript variant X7	XM_047429450.1:c.1010+242… XM_047429450.1:c.1010+242_1010+251del	N/A	Intron Variant
SMARCD1 transcript variant X9	XM_011538695.3:c.	N/A	Genic Downstream Transcript Variant
SMARCD1 transcript variant X4	XR_007063118.1:n.	N/A	Intron Variant
SMARCD1 transcript variant X5	XR_007063119.1:n.	N/A	Intron Variant
SMARCD1 transcript variant X6	XR_007063120.1:n.	N/A	Intron Variant
SMARCD1 transcript variant X8	XR_007063121.1:n.	N/A	Intron Variant
SMARCD1 transcript variant X1	XR_944683.3:n.	N/A	Intron Variant
SMARCD1 transcript variant X2	XR_944684.3: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)₂₀=	del(T)₁₀	del(T)₉	del(T)₈	del(T)₇	del(T)₆	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)₁₅	dup(T)₁₆	dup(T)₁₉	dup(T)₂₀	ins(T)₂₁	ins(T)₂₂	ins(T)₂₃	ins(T)₂₆	ins(T)₂₉
GRCh38.p14 chr 12	NC_000012.12:g.50090822_50090841=	NC_000012.12:g.50090832_50090841del	NC_000012.12:g.50090833_50090841del	NC_000012.12:g.50090834_50090841del	NC_000012.12:g.50090835_50090841del	NC_000012.12:g.50090836_50090841del	NC_000012.12:g.50090838_50090841del	NC_000012.12:g.50090839_50090841del	NC_000012.12:g.50090840_50090841del	NC_000012.12:g.50090841del	NC_000012.12:g.50090841dup	NC_000012.12:g.50090840_50090841dup	NC_000012.12:g.50090839_50090841dup	NC_000012.12:g.50090838_50090841dup	NC_000012.12:g.50090837_50090841dup	NC_000012.12:g.50090836_50090841dup	NC_000012.12:g.50090835_50090841dup	NC_000012.12:g.50090834_50090841dup	NC_000012.12:g.50090833_50090841dup	NC_000012.12:g.50090832_50090841dup	NC_000012.12:g.50090831_50090841dup	NC_000012.12:g.50090830_50090841dup	NC_000012.12:g.50090827_50090841dup	NC_000012.12:g.50090826_50090841dup	NC_000012.12:g.50090823_50090841dup	NC_000012.12:g.50090822_50090841dup	NC_000012.12:g.50090841_50090842insTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:g.50090841_50090842insTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:g.50090841_50090842insTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:g.50090841_50090842insTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:g.50090841_50090842insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 12	NC_000012.11:g.50484605_50484624=	NC_000012.11:g.50484615_50484624del	NC_000012.11:g.50484616_50484624del	NC_000012.11:g.50484617_50484624del	NC_000012.11:g.50484618_50484624del	NC_000012.11:g.50484619_50484624del	NC_000012.11:g.50484621_50484624del	NC_000012.11:g.50484622_50484624del	NC_000012.11:g.50484623_50484624del	NC_000012.11:g.50484624del	NC_000012.11:g.50484624dup	NC_000012.11:g.50484623_50484624dup	NC_000012.11:g.50484622_50484624dup	NC_000012.11:g.50484621_50484624dup	NC_000012.11:g.50484620_50484624dup	NC_000012.11:g.50484619_50484624dup	NC_000012.11:g.50484618_50484624dup	NC_000012.11:g.50484617_50484624dup	NC_000012.11:g.50484616_50484624dup	NC_000012.11:g.50484615_50484624dup	NC_000012.11:g.50484614_50484624dup	NC_000012.11:g.50484613_50484624dup	NC_000012.11:g.50484610_50484624dup	NC_000012.11:g.50484609_50484624dup	NC_000012.11:g.50484606_50484624dup	NC_000012.11:g.50484605_50484624dup	NC_000012.11:g.50484624_50484625insTTTTTTTTTTTTTTTTTTTTT	NC_000012.11:g.50484624_50484625insTTTTTTTTTTTTTTTTTTTTTT	NC_000012.11:g.50484624_50484625insTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.11:g.50484624_50484625insTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.11:g.50484624_50484625insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SMARCD1 transcript variant 1	NM_003076.4:c.1133+232=	NM_003076.4:c.1133+242_1133+251del	NM_003076.4:c.1133+243_1133+251del	NM_003076.4:c.1133+244_1133+251del	NM_003076.4:c.1133+245_1133+251del	NM_003076.4:c.1133+246_1133+251del	NM_003076.4:c.1133+248_1133+251del	NM_003076.4:c.1133+249_1133+251del	NM_003076.4:c.1133+250_1133+251del	NM_003076.4:c.1133+251del	NM_003076.4:c.1133+251dup	NM_003076.4:c.1133+250_1133+251dup	NM_003076.4:c.1133+249_1133+251dup	NM_003076.4:c.1133+248_1133+251dup	NM_003076.4:c.1133+247_1133+251dup	NM_003076.4:c.1133+246_1133+251dup	NM_003076.4:c.1133+245_1133+251dup	NM_003076.4:c.1133+244_1133+251dup	NM_003076.4:c.1133+243_1133+251dup	NM_003076.4:c.1133+242_1133+251dup	NM_003076.4:c.1133+241_1133+251dup	NM_003076.4:c.1133+240_1133+251dup	NM_003076.4:c.1133+237_1133+251dup	NM_003076.4:c.1133+236_1133+251dup	NM_003076.4:c.1133+233_1133+251dup	NM_003076.4:c.1133+232_1133+251dup	NM_003076.4:c.1133+251_1133+252insTTTTTTTTTTTTTTTTTTTTT	NM_003076.4:c.1133+251_1133+252insTTTTTTTTTTTTTTTTTTTTTT	NM_003076.4:c.1133+251_1133+252insTTTTTTTTTTTTTTTTTTTTTTT	NM_003076.4:c.1133+251_1133+252insTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_003076.4:c.1133+251_1133+252insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SMARCD1 transcript variant 1	NM_003076.5:c.1133+232=	NM_003076.5:c.1133+242_1133+251del	NM_003076.5:c.1133+243_1133+251del	NM_003076.5:c.1133+244_1133+251del	NM_003076.5:c.1133+245_1133+251del	NM_003076.5:c.1133+246_1133+251del	NM_003076.5:c.1133+248_1133+251del	NM_003076.5:c.1133+249_1133+251del	NM_003076.5:c.1133+250_1133+251del	NM_003076.5:c.1133+251del	NM_003076.5:c.1133+251dup	NM_003076.5:c.1133+250_1133+251dup	NM_003076.5:c.1133+249_1133+251dup	NM_003076.5:c.1133+248_1133+251dup	NM_003076.5:c.1133+247_1133+251dup	NM_003076.5:c.1133+246_1133+251dup	NM_003076.5:c.1133+245_1133+251dup	NM_003076.5:c.1133+244_1133+251dup	NM_003076.5:c.1133+243_1133+251dup	NM_003076.5:c.1133+242_1133+251dup	NM_003076.5:c.1133+241_1133+251dup	NM_003076.5:c.1133+240_1133+251dup	NM_003076.5:c.1133+237_1133+251dup	NM_003076.5:c.1133+236_1133+251dup	NM_003076.5:c.1133+233_1133+251dup	NM_003076.5:c.1133+232_1133+251dup	NM_003076.5:c.1133+251_1133+252insTTTTTTTTTTTTTTTTTTTTT	NM_003076.5:c.1133+251_1133+252insTTTTTTTTTTTTTTTTTTTTTT	NM_003076.5:c.1133+251_1133+252insTTTTTTTTTTTTTTTTTTTTTTT	NM_003076.5:c.1133+251_1133+252insTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_003076.5:c.1133+251_1133+252insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SMARCD1 transcript variant 2	NM_139071.2:c.1133+232=	NM_139071.2:c.1133+242_1133+251del	NM_139071.2:c.1133+243_1133+251del	NM_139071.2:c.1133+244_1133+251del	NM_139071.2:c.1133+245_1133+251del	NM_139071.2:c.1133+246_1133+251del	NM_139071.2:c.1133+248_1133+251del	NM_139071.2:c.1133+249_1133+251del	NM_139071.2:c.1133+250_1133+251del	NM_139071.2:c.1133+251del	NM_139071.2:c.1133+251dup	NM_139071.2:c.1133+250_1133+251dup	NM_139071.2:c.1133+249_1133+251dup	NM_139071.2:c.1133+248_1133+251dup	NM_139071.2:c.1133+247_1133+251dup	NM_139071.2:c.1133+246_1133+251dup	NM_139071.2:c.1133+245_1133+251dup	NM_139071.2:c.1133+244_1133+251dup	NM_139071.2:c.1133+243_1133+251dup	NM_139071.2:c.1133+242_1133+251dup	NM_139071.2:c.1133+241_1133+251dup	NM_139071.2:c.1133+240_1133+251dup	NM_139071.2:c.1133+237_1133+251dup	NM_139071.2:c.1133+236_1133+251dup	NM_139071.2:c.1133+233_1133+251dup	NM_139071.2:c.1133+232_1133+251dup	NM_139071.2:c.1133+251_1133+252insTTTTTTTTTTTTTTTTTTTTT	NM_139071.2:c.1133+251_1133+252insTTTTTTTTTTTTTTTTTTTTTT	NM_139071.2:c.1133+251_1133+252insTTTTTTTTTTTTTTTTTTTTTTT	NM_139071.2:c.1133+251_1133+252insTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_139071.2:c.1133+251_1133+252insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SMARCD1 transcript variant 2	NM_139071.3:c.1133+232=	NM_139071.3:c.1133+242_1133+251del	NM_139071.3:c.1133+243_1133+251del	NM_139071.3:c.1133+244_1133+251del	NM_139071.3:c.1133+245_1133+251del	NM_139071.3:c.1133+246_1133+251del	NM_139071.3:c.1133+248_1133+251del	NM_139071.3:c.1133+249_1133+251del	NM_139071.3:c.1133+250_1133+251del	NM_139071.3:c.1133+251del	NM_139071.3:c.1133+251dup	NM_139071.3:c.1133+250_1133+251dup	NM_139071.3:c.1133+249_1133+251dup	NM_139071.3:c.1133+248_1133+251dup	NM_139071.3:c.1133+247_1133+251dup	NM_139071.3:c.1133+246_1133+251dup	NM_139071.3:c.1133+245_1133+251dup	NM_139071.3:c.1133+244_1133+251dup	NM_139071.3:c.1133+243_1133+251dup	NM_139071.3:c.1133+242_1133+251dup	NM_139071.3:c.1133+241_1133+251dup	NM_139071.3:c.1133+240_1133+251dup	NM_139071.3:c.1133+237_1133+251dup	NM_139071.3:c.1133+236_1133+251dup	NM_139071.3:c.1133+233_1133+251dup	NM_139071.3:c.1133+232_1133+251dup	NM_139071.3:c.1133+251_1133+252insTTTTTTTTTTTTTTTTTTTTT	NM_139071.3:c.1133+251_1133+252insTTTTTTTTTTTTTTTTTTTTTT	NM_139071.3:c.1133+251_1133+252insTTTTTTTTTTTTTTTTTTTTTTT	NM_139071.3:c.1133+251_1133+252insTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_139071.3:c.1133+251_1133+252insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SMARCD1 transcript variant X1	XM_005269107.1:c.1382+232=	XM_005269107.1:c.1382+242_1382+251del	XM_005269107.1:c.1382+243_1382+251del	XM_005269107.1:c.1382+244_1382+251del	XM_005269107.1:c.1382+245_1382+251del	XM_005269107.1:c.1382+246_1382+251del	XM_005269107.1:c.1382+248_1382+251del	XM_005269107.1:c.1382+249_1382+251del	XM_005269107.1:c.1382+250_1382+251del	XM_005269107.1:c.1382+251del	XM_005269107.1:c.1382+251dup	XM_005269107.1:c.1382+250_1382+251dup	XM_005269107.1:c.1382+249_1382+251dup	XM_005269107.1:c.1382+248_1382+251dup	XM_005269107.1:c.1382+247_1382+251dup	XM_005269107.1:c.1382+246_1382+251dup	XM_005269107.1:c.1382+245_1382+251dup	XM_005269107.1:c.1382+244_1382+251dup	XM_005269107.1:c.1382+243_1382+251dup	XM_005269107.1:c.1382+242_1382+251dup	XM_005269107.1:c.1382+241_1382+251dup	XM_005269107.1:c.1382+240_1382+251dup	XM_005269107.1:c.1382+237_1382+251dup	XM_005269107.1:c.1382+236_1382+251dup	XM_005269107.1:c.1382+233_1382+251dup	XM_005269107.1:c.1382+232_1382+251dup	XM_005269107.1:c.1382+251_1382+252insTTTTTTTTTTTTTTTTTTTTT	XM_005269107.1:c.1382+251_1382+252insTTTTTTTTTTTTTTTTTTTTTT	XM_005269107.1:c.1382+251_1382+252insTTTTTTTTTTTTTTTTTTTTTTT	XM_005269107.1:c.1382+251_1382+252insTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005269107.1:c.1382+251_1382+252insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SMARCD1 transcript variant X3	XM_005269107.5:c.1010+232=	XM_005269107.5:c.1010+242_1010+251del	XM_005269107.5:c.1010+243_1010+251del	XM_005269107.5:c.1010+244_1010+251del	XM_005269107.5:c.1010+245_1010+251del	XM_005269107.5:c.1010+246_1010+251del	XM_005269107.5:c.1010+248_1010+251del	XM_005269107.5:c.1010+249_1010+251del	XM_005269107.5:c.1010+250_1010+251del	XM_005269107.5:c.1010+251del	XM_005269107.5:c.1010+251dup	XM_005269107.5:c.1010+250_1010+251dup	XM_005269107.5:c.1010+249_1010+251dup	XM_005269107.5:c.1010+248_1010+251dup	XM_005269107.5:c.1010+247_1010+251dup	XM_005269107.5:c.1010+246_1010+251dup	XM_005269107.5:c.1010+245_1010+251dup	XM_005269107.5:c.1010+244_1010+251dup	XM_005269107.5:c.1010+243_1010+251dup	XM_005269107.5:c.1010+242_1010+251dup	XM_005269107.5:c.1010+241_1010+251dup	XM_005269107.5:c.1010+240_1010+251dup	XM_005269107.5:c.1010+237_1010+251dup	XM_005269107.5:c.1010+236_1010+251dup	XM_005269107.5:c.1010+233_1010+251dup	XM_005269107.5:c.1010+232_1010+251dup	XM_005269107.5:c.1010+251_1010+252insTTTTTTTTTTTTTTTTTTTTT	XM_005269107.5:c.1010+251_1010+252insTTTTTTTTTTTTTTTTTTTTTT	XM_005269107.5:c.1010+251_1010+252insTTTTTTTTTTTTTTTTTTTTTTT	XM_005269107.5:c.1010+251_1010+252insTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005269107.5:c.1010+251_1010+252insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
SMARCD1 transcript variant X7	XM_047429450.1:c.1010+232=	XM_047429450.1:c.1010+242_1010+251del	XM_047429450.1:c.1010+243_1010+251del	XM_047429450.1:c.1010+244_1010+251del	XM_047429450.1:c.1010+245_1010+251del	XM_047429450.1:c.1010+246_1010+251del	XM_047429450.1:c.1010+248_1010+251del	XM_047429450.1:c.1010+249_1010+251del	XM_047429450.1:c.1010+250_1010+251del	XM_047429450.1:c.1010+251del	XM_047429450.1:c.1010+251dup	XM_047429450.1:c.1010+250_1010+251dup	XM_047429450.1:c.1010+249_1010+251dup	XM_047429450.1:c.1010+248_1010+251dup	XM_047429450.1:c.1010+247_1010+251dup	XM_047429450.1:c.1010+246_1010+251dup	XM_047429450.1:c.1010+245_1010+251dup	XM_047429450.1:c.1010+244_1010+251dup	XM_047429450.1:c.1010+243_1010+251dup	XM_047429450.1:c.1010+242_1010+251dup	XM_047429450.1:c.1010+241_1010+251dup	XM_047429450.1:c.1010+240_1010+251dup	XM_047429450.1:c.1010+237_1010+251dup	XM_047429450.1:c.1010+236_1010+251dup	XM_047429450.1:c.1010+233_1010+251dup	XM_047429450.1:c.1010+232_1010+251dup	XM_047429450.1:c.1010+251_1010+252insTTTTTTTTTTTTTTTTTTTTT	XM_047429450.1:c.1010+251_1010+252insTTTTTTTTTTTTTTTTTTTTTT	XM_047429450.1:c.1010+251_1010+252insTTTTTTTTTTTTTTTTTTTTTTT	XM_047429450.1:c.1010+251_1010+252insTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_047429450.1:c.1010+251_1010+252insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

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#.

73 SubSNP, 45 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss40237540	Mar 13, 2006 (126)
2	HGSV	ss81661513	Dec 14, 2007 (130)
3	HUMANGENOME_JCVI	ss95595999	Feb 03, 2009 (130)
4	HUMANGENOME_JCVI	ss97271175	Feb 05, 2009 (130)
5	PJP	ss294751147	May 09, 2011 (138)
6	PJP	ss294751148	May 09, 2011 (137)
7	DDI	ss1536726620	Apr 01, 2015 (144)
8	EVA_GENOME_DK	ss1574501406	Apr 01, 2015 (144)
9	EVA_UK10K_ALSPAC	ss1707462677	Apr 01, 2015 (144)
10	EVA_UK10K_ALSPAC	ss1707462680	Apr 01, 2015 (144)
11	EVA_UK10K_ALSPAC	ss1707462681	Apr 01, 2015 (144)
12	EVA_UK10K_TWINSUK	ss1707462713	Apr 01, 2015 (144)
13	EVA_UK10K_TWINSUK	ss1707462714	Apr 01, 2015 (144)
14	EVA_UK10K_TWINSUK	ss1707462715	Apr 01, 2015 (144)
15	SWEGEN	ss3009670649	Nov 08, 2017 (151)
16	SWEGEN	ss3009670650	Nov 08, 2017 (151)
17	SWEGEN	ss3009670651	Nov 08, 2017 (151)
18	SWEGEN	ss3009670652	Nov 08, 2017 (151)
19	MCHAISSO	ss3064558241	Nov 08, 2017 (151)
20	URBANLAB	ss3649835167	Oct 12, 2018 (152)
21	EVA_DECODE	ss3693649399	Jul 13, 2019 (153)
22	EVA_DECODE	ss3693649400	Jul 13, 2019 (153)
23	EVA_DECODE	ss3693649401	Jul 13, 2019 (153)
24	PACBIO	ss3787222977	Jul 13, 2019 (153)
25	PACBIO	ss3792325219	Jul 13, 2019 (153)
26	PACBIO	ss3792325220	Jul 13, 2019 (153)
27	PACBIO	ss3797207988	Jul 13, 2019 (153)
28	PACBIO	ss3797207989	Jul 13, 2019 (153)
29	EVA	ss3833117511	Apr 27, 2020 (154)
30	GNOMAD	ss4251614477	Apr 26, 2021 (155)
31	GNOMAD	ss4251614479	Apr 26, 2021 (155)
32	GNOMAD	ss4251614480	Apr 26, 2021 (155)
33	GNOMAD	ss4251614481	Apr 26, 2021 (155)
34	GNOMAD	ss4251614482	Apr 26, 2021 (155)
35	GNOMAD	ss4251614483	Apr 26, 2021 (155)
36	GNOMAD	ss4251614484	Apr 26, 2021 (155)
37	GNOMAD	ss4251614485	Apr 26, 2021 (155)
38	GNOMAD	ss4251614486	Apr 26, 2021 (155)
39	GNOMAD	ss4251614487	Apr 26, 2021 (155)
40	GNOMAD	ss4251614488	Apr 26, 2021 (155)
41	GNOMAD	ss4251614489	Apr 26, 2021 (155)
42	GNOMAD	ss4251614490	Apr 26, 2021 (155)
43	GNOMAD	ss4251614491	Apr 26, 2021 (155)
44	GNOMAD	ss4251614492	Apr 26, 2021 (155)
45	GNOMAD	ss4251614493	Apr 26, 2021 (155)
46	GNOMAD	ss4251614494	Apr 26, 2021 (155)
47	GNOMAD	ss4251614495	Apr 26, 2021 (155)
48	GNOMAD	ss4251614496	Apr 26, 2021 (155)
49	GNOMAD	ss4251614497	Apr 26, 2021 (155)
50	GNOMAD	ss4251614498	Apr 26, 2021 (155)
51	GNOMAD	ss4251614500	Apr 26, 2021 (155)
52	GNOMAD	ss4251614501	Apr 26, 2021 (155)
53	GNOMAD	ss4251614502	Apr 26, 2021 (155)
54	GNOMAD	ss4251614503	Apr 26, 2021 (155)
55	GNOMAD	ss4251614504	Apr 26, 2021 (155)
56	GNOMAD	ss4251614505	Apr 26, 2021 (155)
57	TOMMO_GENOMICS	ss5206269027	Apr 26, 2021 (155)
58	TOMMO_GENOMICS	ss5206269028	Apr 26, 2021 (155)
59	TOMMO_GENOMICS	ss5206269029	Apr 26, 2021 (155)
60	TOMMO_GENOMICS	ss5206269030	Apr 26, 2021 (155)
61	TOMMO_GENOMICS	ss5206269032	Apr 26, 2021 (155)
62	1000G_HIGH_COVERAGE	ss5290771608	Oct 16, 2022 (156)
63	1000G_HIGH_COVERAGE	ss5290771609	Oct 16, 2022 (156)
64	1000G_HIGH_COVERAGE	ss5290771610	Oct 16, 2022 (156)
65	HUGCELL_USP	ss5485528990	Oct 16, 2022 (156)
66	HUGCELL_USP	ss5485528991	Oct 16, 2022 (156)
67	TOMMO_GENOMICS	ss5756042140	Oct 16, 2022 (156)
68	TOMMO_GENOMICS	ss5756042141	Oct 16, 2022 (156)
69	TOMMO_GENOMICS	ss5756042142	Oct 16, 2022 (156)
70	TOMMO_GENOMICS	ss5756042143	Oct 16, 2022 (156)
71	TOMMO_GENOMICS	ss5756042145	Oct 16, 2022 (156)
72	EVA	ss5837952351	Oct 16, 2022 (156)
73	EVA	ss5837952352	Oct 16, 2022 (156)
74	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 32052299 (NC_000012.11:50484604::TT 1204/3854) Row 32052300 (NC_000012.11:50484604::TTT 820/3854) Row 32052301 (NC_000012.11:50484604::T 1830/3854)	-	Oct 12, 2018 (152)
75	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 32052299 (NC_000012.11:50484604::TT 1204/3854) Row 32052300 (NC_000012.11:50484604::TTT 820/3854) Row 32052301 (NC_000012.11:50484604::T 1830/3854)	-	Oct 12, 2018 (152)
76	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 32052299 (NC_000012.11:50484604::TT 1204/3854) Row 32052300 (NC_000012.11:50484604::TTT 820/3854) Row 32052301 (NC_000012.11:50484604::T 1830/3854)	-	Oct 12, 2018 (152)
77	The Danish reference pan genome	NC_000012.11 - 50484605	Apr 27, 2020 (154)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407025436 (NC_000012.12:50090821::T 4447/95122) Row 407025438 (NC_000012.12:50090821::TT 50901/95346) Row 407025439 (NC_000012.12:50090821::TTT 27234/94842)...	-	Apr 26, 2021 (155)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407025436 (NC_000012.12:50090821::T 4447/95122) Row 407025438 (NC_000012.12:50090821::TT 50901/95346) Row 407025439 (NC_000012.12:50090821::TTT 27234/94842)...	-	Apr 26, 2021 (155)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407025436 (NC_000012.12:50090821::T 4447/95122) Row 407025438 (NC_000012.12:50090821::TT 50901/95346) Row 407025439 (NC_000012.12:50090821::TTT 27234/94842)...	-	Apr 26, 2021 (155)
81	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407025436 (NC_000012.12:50090821::T 4447/95122) Row 407025438 (NC_000012.12:50090821::TT 50901/95346) Row 407025439 (NC_000012.12:50090821::TTT 27234/94842)...	-	Apr 26, 2021 (155)
82	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407025436 (NC_000012.12:50090821::T 4447/95122) Row 407025438 (NC_000012.12:50090821::TT 50901/95346) Row 407025439 (NC_000012.12:50090821::TTT 27234/94842)...	-	Apr 26, 2021 (155)
83	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407025436 (NC_000012.12:50090821::T 4447/95122) Row 407025438 (NC_000012.12:50090821::TT 50901/95346) Row 407025439 (NC_000012.12:50090821::TTT 27234/94842)...	-	Apr 26, 2021 (155)
84	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407025436 (NC_000012.12:50090821::T 4447/95122) Row 407025438 (NC_000012.12:50090821::TT 50901/95346) Row 407025439 (NC_000012.12:50090821::TTT 27234/94842)...	-	Apr 26, 2021 (155)
85	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407025436 (NC_000012.12:50090821::T 4447/95122) Row 407025438 (NC_000012.12:50090821::TT 50901/95346) Row 407025439 (NC_000012.12:50090821::TTT 27234/94842)...	-	Apr 26, 2021 (155)
86	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407025436 (NC_000012.12:50090821::T 4447/95122) Row 407025438 (NC_000012.12:50090821::TT 50901/95346) Row 407025439 (NC_000012.12:50090821::TTT 27234/94842)...	-	Apr 26, 2021 (155)
87	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407025436 (NC_000012.12:50090821::T 4447/95122) Row 407025438 (NC_000012.12:50090821::TT 50901/95346) Row 407025439 (NC_000012.12:50090821::TTT 27234/94842)...	-	Apr 26, 2021 (155)
88	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407025436 (NC_000012.12:50090821::T 4447/95122) Row 407025438 (NC_000012.12:50090821::TT 50901/95346) Row 407025439 (NC_000012.12:50090821::TTT 27234/94842)...	-	Apr 26, 2021 (155)
89	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407025436 (NC_000012.12:50090821::T 4447/95122) Row 407025438 (NC_000012.12:50090821::TT 50901/95346) Row 407025439 (NC_000012.12:50090821::TTT 27234/94842)...	-	Apr 26, 2021 (155)
90	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407025436 (NC_000012.12:50090821::T 4447/95122) Row 407025438 (NC_000012.12:50090821::TT 50901/95346) Row 407025439 (NC_000012.12:50090821::TTT 27234/94842)...	-	Apr 26, 2021 (155)
91	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407025436 (NC_000012.12:50090821::T 4447/95122) Row 407025438 (NC_000012.12:50090821::TT 50901/95346) Row 407025439 (NC_000012.12:50090821::TTT 27234/94842)...	-	Apr 26, 2021 (155)
92	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407025436 (NC_000012.12:50090821::T 4447/95122) Row 407025438 (NC_000012.12:50090821::TT 50901/95346) Row 407025439 (NC_000012.12:50090821::TTT 27234/94842)...	-	Apr 26, 2021 (155)
93	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407025436 (NC_000012.12:50090821::T 4447/95122) Row 407025438 (NC_000012.12:50090821::TT 50901/95346) Row 407025439 (NC_000012.12:50090821::TTT 27234/94842)...	-	Apr 26, 2021 (155)
94	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407025436 (NC_000012.12:50090821::T 4447/95122) Row 407025438 (NC_000012.12:50090821::TT 50901/95346) Row 407025439 (NC_000012.12:50090821::TTT 27234/94842)...	-	Apr 26, 2021 (155)
95	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407025436 (NC_000012.12:50090821::T 4447/95122) Row 407025438 (NC_000012.12:50090821::TT 50901/95346) Row 407025439 (NC_000012.12:50090821::TTT 27234/94842)...	-	Apr 26, 2021 (155)
96	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407025436 (NC_000012.12:50090821::T 4447/95122) Row 407025438 (NC_000012.12:50090821::TT 50901/95346) Row 407025439 (NC_000012.12:50090821::TTT 27234/94842)...	-	Apr 26, 2021 (155)
97	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407025436 (NC_000012.12:50090821::T 4447/95122) Row 407025438 (NC_000012.12:50090821::TT 50901/95346) Row 407025439 (NC_000012.12:50090821::TTT 27234/94842)...	-	Apr 26, 2021 (155)
98	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407025436 (NC_000012.12:50090821::T 4447/95122) Row 407025438 (NC_000012.12:50090821::TT 50901/95346) Row 407025439 (NC_000012.12:50090821::TTT 27234/94842)...	-	Apr 26, 2021 (155)
99	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407025436 (NC_000012.12:50090821::T 4447/95122) Row 407025438 (NC_000012.12:50090821::TT 50901/95346) Row 407025439 (NC_000012.12:50090821::TTT 27234/94842)...	-	Apr 26, 2021 (155)
100	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407025436 (NC_000012.12:50090821::T 4447/95122) Row 407025438 (NC_000012.12:50090821::TT 50901/95346) Row 407025439 (NC_000012.12:50090821::TTT 27234/94842)...	-	Apr 26, 2021 (155)
101	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407025436 (NC_000012.12:50090821::T 4447/95122) Row 407025438 (NC_000012.12:50090821::TT 50901/95346) Row 407025439 (NC_000012.12:50090821::TTT 27234/94842)...	-	Apr 26, 2021 (155)
102	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407025436 (NC_000012.12:50090821::T 4447/95122) Row 407025438 (NC_000012.12:50090821::TT 50901/95346) Row 407025439 (NC_000012.12:50090821::TTT 27234/94842)...	-	Apr 26, 2021 (155)
103	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407025436 (NC_000012.12:50090821::T 4447/95122) Row 407025438 (NC_000012.12:50090821::TT 50901/95346) Row 407025439 (NC_000012.12:50090821::TTT 27234/94842)...	-	Apr 26, 2021 (155)
104	gnomAD - Genomes Submission ignored due to conflicting rows: Row 407025436 (NC_000012.12:50090821::T 4447/95122) Row 407025438 (NC_000012.12:50090821::TT 50901/95346) Row 407025439 (NC_000012.12:50090821::TTT 27234/94842)...	-	Apr 26, 2021 (155)
105	8.3KJPN Submission ignored due to conflicting rows: Row 64238334 (NC_000012.11:50484604::TT 8124/15472) Row 64238335 (NC_000012.11:50484604::TTTT 163/15472) Row 64238336 (NC_000012.11:50484604::T 319/15472)...	-	Apr 26, 2021 (155)
106	8.3KJPN Submission ignored due to conflicting rows: Row 64238334 (NC_000012.11:50484604::TT 8124/15472) Row 64238335 (NC_000012.11:50484604::TTTT 163/15472) Row 64238336 (NC_000012.11:50484604::T 319/15472)...	-	Apr 26, 2021 (155)
107	8.3KJPN Submission ignored due to conflicting rows: Row 64238334 (NC_000012.11:50484604::TT 8124/15472) Row 64238335 (NC_000012.11:50484604::TTTT 163/15472) Row 64238336 (NC_000012.11:50484604::T 319/15472)...	-	Apr 26, 2021 (155)
108	8.3KJPN Submission ignored due to conflicting rows: Row 64238334 (NC_000012.11:50484604::TT 8124/15472) Row 64238335 (NC_000012.11:50484604::TTTT 163/15472) Row 64238336 (NC_000012.11:50484604::T 319/15472)...	-	Apr 26, 2021 (155)
109	8.3KJPN Submission ignored due to conflicting rows: Row 64238334 (NC_000012.11:50484604::TT 8124/15472) Row 64238335 (NC_000012.11:50484604::TTTT 163/15472) Row 64238336 (NC_000012.11:50484604::T 319/15472)...	-	Apr 26, 2021 (155)
110	14KJPN Submission ignored due to conflicting rows: Row 89879244 (NC_000012.12:50090821::TT 16444/27884) Row 89879245 (NC_000012.12:50090821::T 713/27884) Row 89879246 (NC_000012.12:50090821::TTTT 307/27884)...	-	Oct 16, 2022 (156)
111	14KJPN Submission ignored due to conflicting rows: Row 89879244 (NC_000012.12:50090821::TT 16444/27884) Row 89879245 (NC_000012.12:50090821::T 713/27884) Row 89879246 (NC_000012.12:50090821::TTTT 307/27884)...	-	Oct 16, 2022 (156)
112	14KJPN Submission ignored due to conflicting rows: Row 89879244 (NC_000012.12:50090821::TT 16444/27884) Row 89879245 (NC_000012.12:50090821::T 713/27884) Row 89879246 (NC_000012.12:50090821::TTTT 307/27884)...	-	Oct 16, 2022 (156)
113	14KJPN Submission ignored due to conflicting rows: Row 89879244 (NC_000012.12:50090821::TT 16444/27884) Row 89879245 (NC_000012.12:50090821::T 713/27884) Row 89879246 (NC_000012.12:50090821::TTTT 307/27884)...	-	Oct 16, 2022 (156)
114	14KJPN Submission ignored due to conflicting rows: Row 89879244 (NC_000012.12:50090821::TT 16444/27884) Row 89879245 (NC_000012.12:50090821::T 713/27884) Row 89879246 (NC_000012.12:50090821::TTTT 307/27884)...	-	Oct 16, 2022 (156)
115	UK 10K study - Twins Submission ignored due to conflicting rows: Row 32052299 (NC_000012.11:50484604::TT 1103/3708) Row 32052300 (NC_000012.11:50484604::TTT 820/3708) Row 32052301 (NC_000012.11:50484604::T 1784/3708)	-	Oct 12, 2018 (152)
116	UK 10K study - Twins Submission ignored due to conflicting rows: Row 32052299 (NC_000012.11:50484604::TT 1103/3708) Row 32052300 (NC_000012.11:50484604::TTT 820/3708) Row 32052301 (NC_000012.11:50484604::T 1784/3708)	-	Oct 12, 2018 (152)
117	UK 10K study - Twins Submission ignored due to conflicting rows: Row 32052299 (NC_000012.11:50484604::TT 1103/3708) Row 32052300 (NC_000012.11:50484604::TTT 820/3708) Row 32052301 (NC_000012.11:50484604::T 1784/3708)	-	Oct 12, 2018 (152)
118	ALFA	NC_000012.12 - 50090822	Apr 26, 2021 (155)

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

Associated ID	History Updated (Build)
rs57282688	May 23, 2008 (130)
rs72105194	May 11, 2012 (137)
rs72502163	Apr 25, 2013 (138)
rs138717411	May 11, 2012 (137)
rs143159208	Oct 18, 2011 (136)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4251614505	NC_000012.12:50090821:TTTTTTTTTT:	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
9765149841	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
9765149841	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss4251614504	NC_000012.12:50090821:TTTTTTTT:	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
9765149841	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss4251614503	NC_000012.12:50090821:TTTTTTT:	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
9765149841	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
9765149841	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
9765149841	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4251614502	NC_000012.12:50090821:TTT:	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
9765149841	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4251614501	NC_000012.12:50090821:TT:	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
9765149841	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4251614500	NC_000012.12:50090821:T:	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
9765149841	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss1536726620, ss1707462681, ss1707462715, ss3787222977, ss3792325219, ss3797207988, ss5206269029	NC_000012.11:50484604::T	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss3693649399, ss4251614477, ss5290771610, ss5756042141	NC_000012.12:50090821::T	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
9765149841	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss97271175	NT_029419.12:12627910::T	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss40237540	NT_029419.12:12627930::T	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss294751147	NC_000012.10:48770872::TT	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss1707462677, ss1707462713, ss3009670649, ss3792325220, ss3797207989, ss5206269027, ss5837952351	NC_000012.11:50484604::TT	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss3649835167, ss3693649400, ss4251614479, ss5290771608, ss5485528990, ss5756042140	NC_000012.12:50090821::TT	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
9765149841	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss294751148	NC_000012.10:48770889::TTT	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
353074, ss1574501406, ss1707462680, ss1707462714, ss3009670650, ss3833117511, ss5206269030, ss5837952352	NC_000012.11:50484604::TTT	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3064558241, ss3693649401, ss4251614480, ss5290771609, ss5485528991, ss5756042143	NC_000012.12:50090821::TTT	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
9765149841	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss81661513, ss95595999	NT_029419.12:12627930::TTT	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3009670651, ss5206269028	NC_000012.11:50484604::TTTT	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4251614481, ss5756042142	NC_000012.12:50090821::TTTT	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
9765149841	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3009670652, ss5206269032	NC_000012.11:50484604::TTTTT	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4251614482, ss5756042145	NC_000012.12:50090821::TTTTT	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
9765149841	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4251614483	NC_000012.12:50090821::TTTTTT	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
9765149841	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4251614484	NC_000012.12:50090821::TTTTTTT	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4251614485	NC_000012.12:50090821::TTTTTTTT	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4251614486	NC_000012.12:50090821::TTTTTTTTT	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4251614487	NC_000012.12:50090821::TTTTTTTTTT	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4251614488	NC_000012.12:50090821::TTTTTTTTTTT	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4251614489	NC_000012.12:50090821::TTTTTTTTTTTT	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4251614490	NC_000012.12:50090821::TTTTTTTTTTT… NC_000012.12:50090821::TTTTTTTTTTTTTTT	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4251614491	NC_000012.12:50090821::TTTTTTTTTTT… NC_000012.12:50090821::TTTTTTTTTTTTTTTT	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4251614492	NC_000012.12:50090821::TTTTTTTTTTT… NC_000012.12:50090821::TTTTTTTTTTTTTTTTTTT	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4251614493	NC_000012.12:50090821::TTTTTTTTTTT… NC_000012.12:50090821::TTTTTTTTTTTTTTTTTTTT	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4251614494	NC_000012.12:50090821::TTTTTTTTTTT… NC_000012.12:50090821::TTTTTTTTTTTTTTTTTTTTT	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4251614495	NC_000012.12:50090821::TTTTTTTTTTT… NC_000012.12:50090821::TTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4251614496	NC_000012.12:50090821::TTTTTTTTTTT… NC_000012.12:50090821::TTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4251614497	NC_000012.12:50090821::TTTTTTTTTTT… NC_000012.12:50090821::TTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4251614498	NC_000012.12:50090821::TTTTTTTTTTT… NC_000012.12:50090821::TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3170611818	NC_000012.12:50090821:TTTT:	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
ss3170611819	NC_000012.12:50090821:TTTTTT:	NC_000012.12:50090821:TTTTTTTTTTTT… NC_000012.12:50090821:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

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

No publications for rs11443542

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

rs11443542