Name: rs748584513
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.

rs748584513

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr15:42369871-42369888 (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)₉ / del(T)₈ / del(T)₅ / del(…
del(T)₉ / del(T)₈ / del(T)₅ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₅ / dup(T)₇ / dup(T)₈ / dup(T)₉ / dup(T)₁₁ / dup(T)₁₂
Variation Type: Indel Insertion and Deletion
Frequency: delT=0.02481 (292/11771, ALFA)
delT=0.052 (31/598, NorthernSweden)
delT=0.33 (13/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CAPN3 : 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	11771	TTTTTTTTTTTTTTTTTT=0.97324	TTTTTTTTT=0.00000, TTTTTTTTTT=0.00000, TTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTT=0.02481, TTTTTTTTTTTTTTTTTTT=0.00195, TTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00000	0.952405	0.002047	0.045548	12
European	Sub	10041	TTTTTTTTTTTTTTTTTT=0.96873	TTTTTTTTT=0.00000, TTTTTTTTTT=0.00000, TTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTT=0.02898, TTTTTTTTTTTTTTTTTTT=0.00229, TTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00000	0.944367	0.002401	0.053232	9
African	Sub	926	TTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	24	TTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	902	TTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	72	TTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	58	TTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	14	TTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	80	TTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	322	TTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	42	TTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	288	TTTTTTTTTTTTTTTTTT=0.997	TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.003, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	0.993056	0.0	0.006944	0

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

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	11771	(T)₁₈=0.97324	del(T)₉=0.00000, del(T)₈=0.00000, del(T)₅=0.00000, del(T)₄=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.02481, dupT=0.00195, dupTT=0.00000, dup(T)₄=0.00000, dup(T)₁₂=0.00000
Allele Frequency Aggregator	European	Sub	10041	(T)₁₈=0.96873	del(T)₉=0.00000, del(T)₈=0.00000, del(T)₅=0.00000, del(T)₄=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.02898, dupT=0.00229, dupTT=0.00000, dup(T)₄=0.00000, dup(T)₁₂=0.00000
Allele Frequency Aggregator	African	Sub	926	(T)₁₈=1.000	del(T)₉=0.000, del(T)₈=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, dup(T)₄=0.000, dup(T)₁₂=0.000
Allele Frequency Aggregator	Latin American 2	Sub	322	(T)₁₈=1.000	del(T)₉=0.000, del(T)₈=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, dup(T)₄=0.000, dup(T)₁₂=0.000
Allele Frequency Aggregator	Other	Sub	288	(T)₁₈=0.997	del(T)₉=0.000, del(T)₈=0.000, del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.003, dupT=0.000, dupTT=0.000, dup(T)₄=0.000, dup(T)₁₂=0.000
Allele Frequency Aggregator	Latin American 1	Sub	80	(T)₁₈=1.00	del(T)₉=0.00, del(T)₈=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, dup(T)₄=0.00, dup(T)₁₂=0.00
Allele Frequency Aggregator	Asian	Sub	72	(T)₁₈=1.00	del(T)₉=0.00, del(T)₈=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, dup(T)₄=0.00, dup(T)₁₂=0.00
Allele Frequency Aggregator	South Asian	Sub	42	(T)₁₈=1.00	del(T)₉=0.00, del(T)₈=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, dup(T)₄=0.00, dup(T)₁₂=0.00
Northern Sweden	ACPOP	Study-wide	598	(T)₁₈=0.948	delT=0.052
The Danish reference pan genome	Danish	Study-wide	40	(T)₁₈=0.68	delT=0.33

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 15	NC_000015.10:g.42369880_42369888del
GRCh38.p14 chr 15	NC_000015.10:g.42369881_42369888del
GRCh38.p14 chr 15	NC_000015.10:g.42369884_42369888del
GRCh38.p14 chr 15	NC_000015.10:g.42369885_42369888del
GRCh38.p14 chr 15	NC_000015.10:g.42369886_42369888del
GRCh38.p14 chr 15	NC_000015.10:g.42369887_42369888del
GRCh38.p14 chr 15	NC_000015.10:g.42369888del
GRCh38.p14 chr 15	NC_000015.10:g.42369888dup
GRCh38.p14 chr 15	NC_000015.10:g.42369887_42369888dup
GRCh38.p14 chr 15	NC_000015.10:g.42369886_42369888dup
GRCh38.p14 chr 15	NC_000015.10:g.42369885_42369888dup
GRCh38.p14 chr 15	NC_000015.10:g.42369884_42369888dup
GRCh38.p14 chr 15	NC_000015.10:g.42369882_42369888dup
GRCh38.p14 chr 15	NC_000015.10:g.42369881_42369888dup
GRCh38.p14 chr 15	NC_000015.10:g.42369880_42369888dup
GRCh38.p14 chr 15	NC_000015.10:g.42369878_42369888dup
GRCh38.p14 chr 15	NC_000015.10:g.42369877_42369888dup
GRCh37.p13 chr 15	NC_000015.9:g.42662078_42662086del
GRCh37.p13 chr 15	NC_000015.9:g.42662079_42662086del
GRCh37.p13 chr 15	NC_000015.9:g.42662082_42662086del
GRCh37.p13 chr 15	NC_000015.9:g.42662083_42662086del
GRCh37.p13 chr 15	NC_000015.9:g.42662084_42662086del
GRCh37.p13 chr 15	NC_000015.9:g.42662085_42662086del
GRCh37.p13 chr 15	NC_000015.9:g.42662086del
GRCh37.p13 chr 15	NC_000015.9:g.42662086dup
GRCh37.p13 chr 15	NC_000015.9:g.42662085_42662086dup
GRCh37.p13 chr 15	NC_000015.9:g.42662084_42662086dup
GRCh37.p13 chr 15	NC_000015.9:g.42662083_42662086dup
GRCh37.p13 chr 15	NC_000015.9:g.42662082_42662086dup
GRCh37.p13 chr 15	NC_000015.9:g.42662080_42662086dup
GRCh37.p13 chr 15	NC_000015.9:g.42662079_42662086dup
GRCh37.p13 chr 15	NC_000015.9:g.42662078_42662086dup
GRCh37.p13 chr 15	NC_000015.9:g.42662076_42662086dup
GRCh37.p13 chr 15	NC_000015.9:g.42662075_42662086dup
CAPN3 RefSeqGene (LRG_849)	NG_008660.1:g.26778_26786del
CAPN3 RefSeqGene (LRG_849)	NG_008660.1:g.26779_26786del
CAPN3 RefSeqGene (LRG_849)	NG_008660.1:g.26782_26786del
CAPN3 RefSeqGene (LRG_849)	NG_008660.1:g.26783_26786del
CAPN3 RefSeqGene (LRG_849)	NG_008660.1:g.26784_26786del
CAPN3 RefSeqGene (LRG_849)	NG_008660.1:g.26785_26786del
CAPN3 RefSeqGene (LRG_849)	NG_008660.1:g.26786del
CAPN3 RefSeqGene (LRG_849)	NG_008660.1:g.26786dup
CAPN3 RefSeqGene (LRG_849)	NG_008660.1:g.26785_26786dup
CAPN3 RefSeqGene (LRG_849)	NG_008660.1:g.26784_26786dup
CAPN3 RefSeqGene (LRG_849)	NG_008660.1:g.26783_26786dup
CAPN3 RefSeqGene (LRG_849)	NG_008660.1:g.26782_26786dup
CAPN3 RefSeqGene (LRG_849)	NG_008660.1:g.26780_26786dup
CAPN3 RefSeqGene (LRG_849)	NG_008660.1:g.26779_26786dup
CAPN3 RefSeqGene (LRG_849)	NG_008660.1:g.26778_26786dup
CAPN3 RefSeqGene (LRG_849)	NG_008660.1:g.26776_26786dup
CAPN3 RefSeqGene (LRG_849)	NG_008660.1:g.26775_26786dup

Gene: CAPN3, calpain 3 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CAPN3 transcript variant 1	NM_000070.3:c.309+9766_30… NM_000070.3:c.309+9766_309+9774del	N/A	Intron Variant
CAPN3 transcript variant 2	NM_024344.2:c.309+9766_30… NM_024344.2:c.309+9766_309+9774del	N/A	Intron Variant
CAPN3 transcript variant 3	NM_173087.2:c.309+9766_30… NM_173087.2:c.309+9766_309+9774del	N/A	Intron Variant
CAPN3 transcript variant 4	NM_173088.2:c.	N/A	Genic Upstream Transcript Variant
CAPN3 transcript variant 5	NM_173089.2:c.	N/A	Genic Upstream Transcript Variant
CAPN3 transcript variant 6	NM_173090.2:c.	N/A	Genic Upstream 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)₁₈=	del(T)₉	del(T)₈	del(T)₅	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₅	dup(T)₇	dup(T)₈	dup(T)₉	dup(T)₁₁	dup(T)₁₂
GRCh38.p14 chr 15	NC_000015.10:g.42369871_42369888=	NC_000015.10:g.42369880_42369888del	NC_000015.10:g.42369881_42369888del	NC_000015.10:g.42369884_42369888del	NC_000015.10:g.42369885_42369888del	NC_000015.10:g.42369886_42369888del	NC_000015.10:g.42369887_42369888del	NC_000015.10:g.42369888del	NC_000015.10:g.42369888dup	NC_000015.10:g.42369887_42369888dup	NC_000015.10:g.42369886_42369888dup	NC_000015.10:g.42369885_42369888dup	NC_000015.10:g.42369884_42369888dup	NC_000015.10:g.42369882_42369888dup	NC_000015.10:g.42369881_42369888dup	NC_000015.10:g.42369880_42369888dup	NC_000015.10:g.42369878_42369888dup	NC_000015.10:g.42369877_42369888dup
GRCh37.p13 chr 15	NC_000015.9:g.42662069_42662086=	NC_000015.9:g.42662078_42662086del	NC_000015.9:g.42662079_42662086del	NC_000015.9:g.42662082_42662086del	NC_000015.9:g.42662083_42662086del	NC_000015.9:g.42662084_42662086del	NC_000015.9:g.42662085_42662086del	NC_000015.9:g.42662086del	NC_000015.9:g.42662086dup	NC_000015.9:g.42662085_42662086dup	NC_000015.9:g.42662084_42662086dup	NC_000015.9:g.42662083_42662086dup	NC_000015.9:g.42662082_42662086dup	NC_000015.9:g.42662080_42662086dup	NC_000015.9:g.42662079_42662086dup	NC_000015.9:g.42662078_42662086dup	NC_000015.9:g.42662076_42662086dup	NC_000015.9:g.42662075_42662086dup
CAPN3 RefSeqGene (LRG_849)	NG_008660.1:g.26769_26786=	NG_008660.1:g.26778_26786del	NG_008660.1:g.26779_26786del	NG_008660.1:g.26782_26786del	NG_008660.1:g.26783_26786del	NG_008660.1:g.26784_26786del	NG_008660.1:g.26785_26786del	NG_008660.1:g.26786del	NG_008660.1:g.26786dup	NG_008660.1:g.26785_26786dup	NG_008660.1:g.26784_26786dup	NG_008660.1:g.26783_26786dup	NG_008660.1:g.26782_26786dup	NG_008660.1:g.26780_26786dup	NG_008660.1:g.26779_26786dup	NG_008660.1:g.26778_26786dup	NG_008660.1:g.26776_26786dup	NG_008660.1:g.26775_26786dup
CAPN3 transcript variant 1	NM_000070.2:c.309+9757=	NM_000070.2:c.309+9766_309+9774del	NM_000070.2:c.309+9767_309+9774del	NM_000070.2:c.309+9770_309+9774del	NM_000070.2:c.309+9771_309+9774del	NM_000070.2:c.309+9772_309+9774del	NM_000070.2:c.309+9773_309+9774del	NM_000070.2:c.309+9774del	NM_000070.2:c.309+9774dup	NM_000070.2:c.309+9773_309+9774dup	NM_000070.2:c.309+9772_309+9774dup	NM_000070.2:c.309+9771_309+9774dup	NM_000070.2:c.309+9770_309+9774dup	NM_000070.2:c.309+9768_309+9774dup	NM_000070.2:c.309+9767_309+9774dup	NM_000070.2:c.309+9766_309+9774dup	NM_000070.2:c.309+9764_309+9774dup	NM_000070.2:c.309+9763_309+9774dup
CAPN3 transcript variant 1	NM_000070.3:c.309+9757=	NM_000070.3:c.309+9766_309+9774del	NM_000070.3:c.309+9767_309+9774del	NM_000070.3:c.309+9770_309+9774del	NM_000070.3:c.309+9771_309+9774del	NM_000070.3:c.309+9772_309+9774del	NM_000070.3:c.309+9773_309+9774del	NM_000070.3:c.309+9774del	NM_000070.3:c.309+9774dup	NM_000070.3:c.309+9773_309+9774dup	NM_000070.3:c.309+9772_309+9774dup	NM_000070.3:c.309+9771_309+9774dup	NM_000070.3:c.309+9770_309+9774dup	NM_000070.3:c.309+9768_309+9774dup	NM_000070.3:c.309+9767_309+9774dup	NM_000070.3:c.309+9766_309+9774dup	NM_000070.3:c.309+9764_309+9774dup	NM_000070.3:c.309+9763_309+9774dup
CAPN3 transcript variant 2	NM_024344.1:c.309+9757=	NM_024344.1:c.309+9766_309+9774del	NM_024344.1:c.309+9767_309+9774del	NM_024344.1:c.309+9770_309+9774del	NM_024344.1:c.309+9771_309+9774del	NM_024344.1:c.309+9772_309+9774del	NM_024344.1:c.309+9773_309+9774del	NM_024344.1:c.309+9774del	NM_024344.1:c.309+9774dup	NM_024344.1:c.309+9773_309+9774dup	NM_024344.1:c.309+9772_309+9774dup	NM_024344.1:c.309+9771_309+9774dup	NM_024344.1:c.309+9770_309+9774dup	NM_024344.1:c.309+9768_309+9774dup	NM_024344.1:c.309+9767_309+9774dup	NM_024344.1:c.309+9766_309+9774dup	NM_024344.1:c.309+9764_309+9774dup	NM_024344.1:c.309+9763_309+9774dup
CAPN3 transcript variant 2	NM_024344.2:c.309+9757=	NM_024344.2:c.309+9766_309+9774del	NM_024344.2:c.309+9767_309+9774del	NM_024344.2:c.309+9770_309+9774del	NM_024344.2:c.309+9771_309+9774del	NM_024344.2:c.309+9772_309+9774del	NM_024344.2:c.309+9773_309+9774del	NM_024344.2:c.309+9774del	NM_024344.2:c.309+9774dup	NM_024344.2:c.309+9773_309+9774dup	NM_024344.2:c.309+9772_309+9774dup	NM_024344.2:c.309+9771_309+9774dup	NM_024344.2:c.309+9770_309+9774dup	NM_024344.2:c.309+9768_309+9774dup	NM_024344.2:c.309+9767_309+9774dup	NM_024344.2:c.309+9766_309+9774dup	NM_024344.2:c.309+9764_309+9774dup	NM_024344.2:c.309+9763_309+9774dup
CAPN3 transcript variant 3	NM_173087.1:c.309+9757=	NM_173087.1:c.309+9766_309+9774del	NM_173087.1:c.309+9767_309+9774del	NM_173087.1:c.309+9770_309+9774del	NM_173087.1:c.309+9771_309+9774del	NM_173087.1:c.309+9772_309+9774del	NM_173087.1:c.309+9773_309+9774del	NM_173087.1:c.309+9774del	NM_173087.1:c.309+9774dup	NM_173087.1:c.309+9773_309+9774dup	NM_173087.1:c.309+9772_309+9774dup	NM_173087.1:c.309+9771_309+9774dup	NM_173087.1:c.309+9770_309+9774dup	NM_173087.1:c.309+9768_309+9774dup	NM_173087.1:c.309+9767_309+9774dup	NM_173087.1:c.309+9766_309+9774dup	NM_173087.1:c.309+9764_309+9774dup	NM_173087.1:c.309+9763_309+9774dup
CAPN3 transcript variant 3	NM_173087.2:c.309+9757=	NM_173087.2:c.309+9766_309+9774del	NM_173087.2:c.309+9767_309+9774del	NM_173087.2:c.309+9770_309+9774del	NM_173087.2:c.309+9771_309+9774del	NM_173087.2:c.309+9772_309+9774del	NM_173087.2:c.309+9773_309+9774del	NM_173087.2:c.309+9774del	NM_173087.2:c.309+9774dup	NM_173087.2:c.309+9773_309+9774dup	NM_173087.2:c.309+9772_309+9774dup	NM_173087.2:c.309+9771_309+9774dup	NM_173087.2:c.309+9770_309+9774dup	NM_173087.2:c.309+9768_309+9774dup	NM_173087.2:c.309+9767_309+9774dup	NM_173087.2:c.309+9766_309+9774dup	NM_173087.2:c.309+9764_309+9774dup	NM_173087.2:c.309+9763_309+9774dup
CAPN3 transcript variant X1	XM_005254703.1:c.309+9757=	XM_005254703.1:c.309+9766_309+9774del	XM_005254703.1:c.309+9767_309+9774del	XM_005254703.1:c.309+9770_309+9774del	XM_005254703.1:c.309+9771_309+9774del	XM_005254703.1:c.309+9772_309+9774del	XM_005254703.1:c.309+9773_309+9774del	XM_005254703.1:c.309+9774del	XM_005254703.1:c.309+9774dup	XM_005254703.1:c.309+9773_309+9774dup	XM_005254703.1:c.309+9772_309+9774dup	XM_005254703.1:c.309+9771_309+9774dup	XM_005254703.1:c.309+9770_309+9774dup	XM_005254703.1:c.309+9768_309+9774dup	XM_005254703.1:c.309+9767_309+9774dup	XM_005254703.1:c.309+9766_309+9774dup	XM_005254703.1:c.309+9764_309+9774dup	XM_005254703.1:c.309+9763_309+9774dup
CAPN3 transcript variant X2	XM_005254704.1:c.49-14612=	XM_005254704.1:c.49-14603_49-14595del	XM_005254704.1:c.49-14602_49-14595del	XM_005254704.1:c.49-14599_49-14595del	XM_005254704.1:c.49-14598_49-14595del	XM_005254704.1:c.49-14597_49-14595del	XM_005254704.1:c.49-14596_49-14595del	XM_005254704.1:c.49-14595del	XM_005254704.1:c.49-14595dup	XM_005254704.1:c.49-14596_49-14595dup	XM_005254704.1:c.49-14597_49-14595dup	XM_005254704.1:c.49-14598_49-14595dup	XM_005254704.1:c.49-14599_49-14595dup	XM_005254704.1:c.49-14601_49-14595dup	XM_005254704.1:c.49-14602_49-14595dup	XM_005254704.1:c.49-14603_49-14595dup	XM_005254704.1:c.49-14605_49-14595dup	XM_005254704.1:c.49-14606_49-14595dup
CAPN3 transcript variant X3	XM_005254705.1:c.49-14612=	XM_005254705.1:c.49-14603_49-14595del	XM_005254705.1:c.49-14602_49-14595del	XM_005254705.1:c.49-14599_49-14595del	XM_005254705.1:c.49-14598_49-14595del	XM_005254705.1:c.49-14597_49-14595del	XM_005254705.1:c.49-14596_49-14595del	XM_005254705.1:c.49-14595del	XM_005254705.1:c.49-14595dup	XM_005254705.1:c.49-14596_49-14595dup	XM_005254705.1:c.49-14597_49-14595dup	XM_005254705.1:c.49-14598_49-14595dup	XM_005254705.1:c.49-14599_49-14595dup	XM_005254705.1:c.49-14601_49-14595dup	XM_005254705.1:c.49-14602_49-14595dup	XM_005254705.1:c.49-14603_49-14595dup	XM_005254705.1:c.49-14605_49-14595dup	XM_005254705.1:c.49-14606_49-14595dup
CAPN3 transcript variant X4	XM_005254706.1:c.49-14612=	XM_005254706.1:c.49-14603_49-14595del	XM_005254706.1:c.49-14602_49-14595del	XM_005254706.1:c.49-14599_49-14595del	XM_005254706.1:c.49-14598_49-14595del	XM_005254706.1:c.49-14597_49-14595del	XM_005254706.1:c.49-14596_49-14595del	XM_005254706.1:c.49-14595del	XM_005254706.1:c.49-14595dup	XM_005254706.1:c.49-14596_49-14595dup	XM_005254706.1:c.49-14597_49-14595dup	XM_005254706.1:c.49-14598_49-14595dup	XM_005254706.1:c.49-14599_49-14595dup	XM_005254706.1:c.49-14601_49-14595dup	XM_005254706.1:c.49-14602_49-14595dup	XM_005254706.1:c.49-14603_49-14595dup	XM_005254706.1:c.49-14605_49-14595dup	XM_005254706.1:c.49-14606_49-14595dup

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#.

37 SubSNP, 27 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	EVA_GENOME_DK	ss1574851818	Apr 01, 2015 (144)
2	HAMMER_LAB	ss1808175627	Sep 08, 2015 (146)
3	SWEGEN	ss3013178055	Nov 08, 2017 (151)
4	MCHAISSO	ss3065584499	Nov 08, 2017 (151)
5	ACPOP	ss3740870956	Jul 13, 2019 (153)
6	EVA	ss3834204529	Apr 27, 2020 (154)
7	GNOMAD	ss4287614783	Apr 27, 2021 (155)
8	GNOMAD	ss4287614784	Apr 27, 2021 (155)
9	GNOMAD	ss4287614785	Apr 27, 2021 (155)
10	GNOMAD	ss4287614787	Apr 27, 2021 (155)
11	GNOMAD	ss4287614788	Apr 27, 2021 (155)
12	GNOMAD	ss4287614789	Apr 27, 2021 (155)
13	GNOMAD	ss4287614790	Apr 27, 2021 (155)
14	GNOMAD	ss4287614791	Apr 27, 2021 (155)
15	GNOMAD	ss4287614792	Apr 27, 2021 (155)
16	GNOMAD	ss4287614793	Apr 27, 2021 (155)
17	GNOMAD	ss4287614794	Apr 27, 2021 (155)
18	GNOMAD	ss4287614795	Apr 27, 2021 (155)
19	GNOMAD	ss4287614796	Apr 27, 2021 (155)
20	GNOMAD	ss4287614797	Apr 27, 2021 (155)
21	GNOMAD	ss4287614798	Apr 27, 2021 (155)
22	TOPMED	ss4989044976	Apr 27, 2021 (155)
23	TOPMED	ss4989044977	Apr 27, 2021 (155)
24	TOMMO_GENOMICS	ss5215885696	Apr 27, 2021 (155)
25	TOMMO_GENOMICS	ss5215885697	Apr 27, 2021 (155)
26	TOMMO_GENOMICS	ss5215885698	Apr 27, 2021 (155)
27	1000G_HIGH_COVERAGE	ss5298216014	Oct 16, 2022 (156)
28	HUGCELL_USP	ss5491970360	Oct 16, 2022 (156)
29	HUGCELL_USP	ss5491970361	Oct 16, 2022 (156)
30	HUGCELL_USP	ss5491970362	Oct 16, 2022 (156)
31	TOMMO_GENOMICS	ss5769599394	Oct 16, 2022 (156)
32	TOMMO_GENOMICS	ss5769599395	Oct 16, 2022 (156)
33	TOMMO_GENOMICS	ss5769599396	Oct 16, 2022 (156)
34	TOMMO_GENOMICS	ss5769599397	Oct 16, 2022 (156)
35	EVA	ss5828117735	Oct 16, 2022 (156)
36	EVA	ss5828117736	Oct 16, 2022 (156)
37	EVA	ss5828117737	Oct 16, 2022 (156)
38	The Danish reference pan genome	NC_000015.9 - 42662069	Apr 27, 2020 (154)
39	gnomAD - Genomes Submission ignored due to conflicting rows: Row 467127531 (NC_000015.10:42369870::T 4850/116244) Row 467127532 (NC_000015.10:42369870::TT 25/116298) Row 467127533 (NC_000015.10:42369870::TTT 10/116306)...	-	Apr 27, 2021 (155)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 467127531 (NC_000015.10:42369870::T 4850/116244) Row 467127532 (NC_000015.10:42369870::TT 25/116298) Row 467127533 (NC_000015.10:42369870::TTT 10/116306)...	-	Apr 27, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 467127531 (NC_000015.10:42369870::T 4850/116244) Row 467127532 (NC_000015.10:42369870::TT 25/116298) Row 467127533 (NC_000015.10:42369870::TTT 10/116306)...	-	Apr 27, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 467127531 (NC_000015.10:42369870::T 4850/116244) Row 467127532 (NC_000015.10:42369870::TT 25/116298) Row 467127533 (NC_000015.10:42369870::TTT 10/116306)...	-	Apr 27, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 467127531 (NC_000015.10:42369870::T 4850/116244) Row 467127532 (NC_000015.10:42369870::TT 25/116298) Row 467127533 (NC_000015.10:42369870::TTT 10/116306)...	-	Apr 27, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 467127531 (NC_000015.10:42369870::T 4850/116244) Row 467127532 (NC_000015.10:42369870::TT 25/116298) Row 467127533 (NC_000015.10:42369870::TTT 10/116306)...	-	Apr 27, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 467127531 (NC_000015.10:42369870::T 4850/116244) Row 467127532 (NC_000015.10:42369870::TT 25/116298) Row 467127533 (NC_000015.10:42369870::TTT 10/116306)...	-	Apr 27, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 467127531 (NC_000015.10:42369870::T 4850/116244) Row 467127532 (NC_000015.10:42369870::TT 25/116298) Row 467127533 (NC_000015.10:42369870::TTT 10/116306)...	-	Apr 27, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 467127531 (NC_000015.10:42369870::T 4850/116244) Row 467127532 (NC_000015.10:42369870::TT 25/116298) Row 467127533 (NC_000015.10:42369870::TTT 10/116306)...	-	Apr 27, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 467127531 (NC_000015.10:42369870::T 4850/116244) Row 467127532 (NC_000015.10:42369870::TT 25/116298) Row 467127533 (NC_000015.10:42369870::TTT 10/116306)...	-	Apr 27, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 467127531 (NC_000015.10:42369870::T 4850/116244) Row 467127532 (NC_000015.10:42369870::TT 25/116298) Row 467127533 (NC_000015.10:42369870::TTT 10/116306)...	-	Apr 27, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 467127531 (NC_000015.10:42369870::T 4850/116244) Row 467127532 (NC_000015.10:42369870::TT 25/116298) Row 467127533 (NC_000015.10:42369870::TTT 10/116306)...	-	Apr 27, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 467127531 (NC_000015.10:42369870::T 4850/116244) Row 467127532 (NC_000015.10:42369870::TT 25/116298) Row 467127533 (NC_000015.10:42369870::TTT 10/116306)...	-	Apr 27, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 467127531 (NC_000015.10:42369870::T 4850/116244) Row 467127532 (NC_000015.10:42369870::TT 25/116298) Row 467127533 (NC_000015.10:42369870::TTT 10/116306)...	-	Apr 27, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 467127531 (NC_000015.10:42369870::T 4850/116244) Row 467127532 (NC_000015.10:42369870::TT 25/116298) Row 467127533 (NC_000015.10:42369870::TTT 10/116306)...	-	Apr 27, 2021 (155)
54	Northern Sweden	NC_000015.9 - 42662069	Jul 13, 2019 (153)
55	8.3KJPN Submission ignored due to conflicting rows: Row 73855003 (NC_000015.9:42662068:T: 904/16724) Row 73855004 (NC_000015.9:42662068::T 1019/16724) Row 73855005 (NC_000015.9:42662068::TT 35/16724)	-	Apr 27, 2021 (155)
56	8.3KJPN Submission ignored due to conflicting rows: Row 73855003 (NC_000015.9:42662068:T: 904/16724) Row 73855004 (NC_000015.9:42662068::T 1019/16724) Row 73855005 (NC_000015.9:42662068::TT 35/16724)	-	Apr 27, 2021 (155)
57	8.3KJPN Submission ignored due to conflicting rows: Row 73855003 (NC_000015.9:42662068:T: 904/16724) Row 73855004 (NC_000015.9:42662068::T 1019/16724) Row 73855005 (NC_000015.9:42662068::TT 35/16724)	-	Apr 27, 2021 (155)
58	14KJPN Submission ignored due to conflicting rows: Row 103436498 (NC_000015.10:42369870:T: 1521/28224) Row 103436499 (NC_000015.10:42369870::T 1782/28224) Row 103436500 (NC_000015.10:42369870::TT 60/28224)...	-	Oct 16, 2022 (156)
59	14KJPN Submission ignored due to conflicting rows: Row 103436498 (NC_000015.10:42369870:T: 1521/28224) Row 103436499 (NC_000015.10:42369870::T 1782/28224) Row 103436500 (NC_000015.10:42369870::TT 60/28224)...	-	Oct 16, 2022 (156)
60	14KJPN Submission ignored due to conflicting rows: Row 103436498 (NC_000015.10:42369870:T: 1521/28224) Row 103436499 (NC_000015.10:42369870::T 1782/28224) Row 103436500 (NC_000015.10:42369870::TT 60/28224)...	-	Oct 16, 2022 (156)
61	14KJPN Submission ignored due to conflicting rows: Row 103436498 (NC_000015.10:42369870:T: 1521/28224) Row 103436499 (NC_000015.10:42369870::T 1782/28224) Row 103436500 (NC_000015.10:42369870::TT 60/28224)...	-	Oct 16, 2022 (156)
62	TopMed Submission ignored due to conflicting rows: Row 204590636 (NC_000015.10:42369870::TTTTTTTTTTTT 1/264690) Row 204590637 (NC_000015.10:42369870:TTTTTTTTT: 1/264690)	-	Apr 27, 2021 (155)
63	TopMed Submission ignored due to conflicting rows: Row 204590636 (NC_000015.10:42369870::TTTTTTTTTTTT 1/264690) Row 204590637 (NC_000015.10:42369870:TTTTTTTTT: 1/264690)	-	Apr 27, 2021 (155)
64	ALFA	NC_000015.10 - 42369871	Apr 27, 2021 (155)

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

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4989044977	NC_000015.10:42369870:TTTTTTTTT:	NC_000015.10:42369870:TTTTTTTTTTTT… NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTT	(self)
12067229018	NC_000015.10:42369870:TTTTTTTTTTTT… NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTT	NC_000015.10:42369870:TTTTTTTTTTTT… NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTT	(self)
ss4287614798	NC_000015.10:42369870:TTTTTTTT:	NC_000015.10:42369870:TTTTTTTTTTTT… NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
12067229018	NC_000015.10:42369870:TTTTTTTTTTTT… NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT	NC_000015.10:42369870:TTTTTTTTTTTT… NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
ss4287614797, ss5769599397	NC_000015.10:42369870:TTTTT:	NC_000015.10:42369870:TTTTTTTTTTTT… NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
12067229018	NC_000015.10:42369870:TTTTTTTTTTTT… NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000015.10:42369870:TTTTTTTTTTTT… NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4287614796	NC_000015.10:42369870:TTTT:	NC_000015.10:42369870:TTTTTTTTTTTT… NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
12067229018	NC_000015.10:42369870:TTTTTTTTTTTT… NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000015.10:42369870:TTTTTTTTTTTT… NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss4287614795	NC_000015.10:42369870:TTT:	NC_000015.10:42369870:TTTTTTTTTTTT… NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
12067229018	NC_000015.10:42369870:TTTTTTTTTTTT… NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000015.10:42369870:TTTTTTTTTTTT… NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss4287614794, ss5491970361	NC_000015.10:42369870:TT:	NC_000015.10:42369870:TTTTTTTTTTTT… NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
12067229018	NC_000015.10:42369870:TTTTTTTTTTTT… NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000015.10:42369870:TTTTTTTTTTTT… NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
485271, 14155821, ss1574851818, ss1808175627, ss3013178055, ss3740870956, ss3834204529, ss5215885696, ss5828117736	NC_000015.9:42662068:T:	NC_000015.10:42369870:TTTTTTTTTTTT… NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3065584499, ss4287614793, ss5298216014, ss5491970360, ss5769599394	NC_000015.10:42369870:T:	NC_000015.10:42369870:TTTTTTTTTTTT… NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
12067229018	NC_000015.10:42369870:TTTTTTTTTTTT… NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000015.10:42369870:TTTTTTTTTTTT… NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss5215885697	NC_000015.9:42662068::T	NC_000015.10:42369870:TTTTTTTTTTTT… NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4287614783, ss5491970362, ss5769599395	NC_000015.10:42369870::T	NC_000015.10:42369870:TTTTTTTTTTTT… NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
12067229018	NC_000015.10:42369870:TTTTTTTTTTTT… NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000015.10:42369870:TTTTTTTTTTTT… NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss5215885698	NC_000015.9:42662068::TT	NC_000015.10:42369870:TTTTTTTTTTTT… NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4287614784, ss5769599396	NC_000015.10:42369870::TT	NC_000015.10:42369870:TTTTTTTTTTTT… NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
12067229018	NC_000015.10:42369870:TTTTTTTTTTTT… NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000015.10:42369870:TTTTTTTTTTTT… NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss5828117737	NC_000015.9:42662068::TTT	NC_000015.10:42369870:TTTTTTTTTTTT… NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
ss4287614785	NC_000015.10:42369870::TTT	NC_000015.10:42369870:TTTTTTTTTTTT… NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4287614787	NC_000015.10:42369870::TTTT	NC_000015.10:42369870:TTTTTTTTTTTT… NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
12067229018	NC_000015.10:42369870:TTTTTTTTTTTT… NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000015.10:42369870:TTTTTTTTTTTT… NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss5828117735	NC_000015.9:42662068::TTTTT	NC_000015.10:42369870:TTTTTTTTTTTT… NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
ss4287614788	NC_000015.10:42369870::TTTTT	NC_000015.10:42369870:TTTTTTTTTTTT… NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4287614789	NC_000015.10:42369870::TTTTTTT	NC_000015.10:42369870:TTTTTTTTTTTT… NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4287614790	NC_000015.10:42369870::TTTTTTTT	NC_000015.10:42369870:TTTTTTTTTTTT… NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4287614791	NC_000015.10:42369870::TTTTTTTTT	NC_000015.10:42369870:TTTTTTTTTTTT… NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4287614792	NC_000015.10:42369870::TTTTTTTTTTT	NC_000015.10:42369870:TTTTTTTTTTTT… NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4989044976	NC_000015.10:42369870::TTTTTTTTTTTT	NC_000015.10:42369870:TTTTTTTTTTTT… NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
12067229018	NC_000015.10:42369870:TTTTTTTTTTTT… NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000015.10:42369870:TTTTTTTTTTTT… NC_000015.10:42369870:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)

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

No publications for rs748584513

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

rs748584513