Name: rs11409819
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.

rs11409819

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:232673908-232673926 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: del(T)₁₃ / del(T)₉ / del(T)₅ / del…
del(T)₁₃ / del(T)₉ / del(T)₅ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₅ / dup(T)₆ / dup(T)₇ / dup(T)₈
Variation Type: Indel Insertion and Deletion
Frequency: del(T)₁₃=0.0000 (0/7528, ALFA)
del(T)₉=0.0000 (0/7528, ALFA)
delTTT=0.0000 (0/7528, ALFA) (+ 7 more)
delTT=0.0000 (0/7528, ALFA)
delT=0.0000 (0/7528, ALFA)
dupT=0.0000 (0/7528, ALFA)
dupTT=0.0000 (0/7528, ALFA)
dup(T)₅=0.0000 (0/7528, ALFA)
delT=0.0881 (441/5008, 1000G)
dupT=0.47 (19/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: EFHD1 : 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	HWEP
Total	Global	7528	TTTTTTTTTTTTTTTTTTT=1.0000	TTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
European	Sub	4458	TTTTTTTTTTTTTTTTTTT=1.0000	TTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
African	Sub	2174	TTTTTTTTTTTTTTTTTTT=1.0000	TTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
African Others	Sub	90	TTTTTTTTTTTTTTTTTTT=1.00	TTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
African American	Sub	2084	TTTTTTTTTTTTTTTTTTT=1.0000	TTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
Asian	Sub	48	TTTTTTTTTTTTTTTTTTT=1.00	TTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
East Asian	Sub	34	TTTTTTTTTTTTTTTTTTT=1.00	TTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Other Asian	Sub	14	TTTTTTTTTTTTTTTTTTT=1.00	TTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Latin American 1	Sub	90	TTTTTTTTTTTTTTTTTTT=1.00	TTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Latin American 2	Sub	416	TTTTTTTTTTTTTTTTTTT=1.000	TTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	N/A
South Asian	Sub	44	TTTTTTTTTTTTTTTTTTT=1.00	TTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Other	Sub	298	TTTTTTTTTTTTTTTTTTT=1.000	TTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	N/A

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

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	7528	(T)₁₉=1.0000	del(T)₁₃=0.0000, del(T)₉=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dup(T)₅=0.0000
Allele Frequency Aggregator	European	Sub	4458	(T)₁₉=1.0000	del(T)₁₃=0.0000, del(T)₉=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dup(T)₅=0.0000
Allele Frequency Aggregator	African	Sub	2174	(T)₁₉=1.0000	del(T)₁₃=0.0000, del(T)₉=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dup(T)₅=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	416	(T)₁₉=1.000	del(T)₁₃=0.000, del(T)₉=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dup(T)₅=0.000
Allele Frequency Aggregator	Other	Sub	298	(T)₁₉=1.000	del(T)₁₃=0.000, del(T)₉=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dup(T)₅=0.000
Allele Frequency Aggregator	Latin American 1	Sub	90	(T)₁₉=1.00	del(T)₁₃=0.00, del(T)₉=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dup(T)₅=0.00
Allele Frequency Aggregator	Asian	Sub	48	(T)₁₉=1.00	del(T)₁₃=0.00, del(T)₉=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dup(T)₅=0.00
Allele Frequency Aggregator	South Asian	Sub	44	(T)₁₉=1.00	del(T)₁₃=0.00, del(T)₉=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dup(T)₅=0.00
1000Genomes	Global	Study-wide	5008	(T)₁₉=0.9119	delT=0.0881
1000Genomes	African	Sub	1322	(T)₁₉=0.8336	delT=0.1664
1000Genomes	East Asian	Sub	1008	(T)₁₉=0.9563	delT=0.0437
1000Genomes	Europe	Sub	1006	(T)₁₉=0.9533	delT=0.0467
1000Genomes	South Asian	Sub	978	(T)₁₉=0.898	delT=0.102
1000Genomes	American	Sub	694	(T)₁₉=0.957	delT=0.043
The Danish reference pan genome	Danish	Study-wide	40	- No frequency provided	dupT=0.47

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 2	NC_000002.12:g.232673914_232673926del
GRCh38.p14 chr 2	NC_000002.12:g.232673918_232673926del
GRCh38.p14 chr 2	NC_000002.12:g.232673922_232673926del
GRCh38.p14 chr 2	NC_000002.12:g.232673923_232673926del
GRCh38.p14 chr 2	NC_000002.12:g.232673924_232673926del
GRCh38.p14 chr 2	NC_000002.12:g.232673925_232673926del
GRCh38.p14 chr 2	NC_000002.12:g.232673926del
GRCh38.p14 chr 2	NC_000002.12:g.232673926dup
GRCh38.p14 chr 2	NC_000002.12:g.232673925_232673926dup
GRCh38.p14 chr 2	NC_000002.12:g.232673924_232673926dup
GRCh38.p14 chr 2	NC_000002.12:g.232673923_232673926dup
GRCh38.p14 chr 2	NC_000002.12:g.232673922_232673926dup
GRCh38.p14 chr 2	NC_000002.12:g.232673921_232673926dup
GRCh38.p14 chr 2	NC_000002.12:g.232673920_232673926dup
GRCh38.p14 chr 2	NC_000002.12:g.232673919_232673926dup
GRCh37.p13 chr 2	NC_000002.11:g.233538624_233538636del
GRCh37.p13 chr 2	NC_000002.11:g.233538628_233538636del
GRCh37.p13 chr 2	NC_000002.11:g.233538632_233538636del
GRCh37.p13 chr 2	NC_000002.11:g.233538633_233538636del
GRCh37.p13 chr 2	NC_000002.11:g.233538634_233538636del
GRCh37.p13 chr 2	NC_000002.11:g.233538635_233538636del
GRCh37.p13 chr 2	NC_000002.11:g.233538636del
GRCh37.p13 chr 2	NC_000002.11:g.233538636dup
GRCh37.p13 chr 2	NC_000002.11:g.233538635_233538636dup
GRCh37.p13 chr 2	NC_000002.11:g.233538634_233538636dup
GRCh37.p13 chr 2	NC_000002.11:g.233538633_233538636dup
GRCh37.p13 chr 2	NC_000002.11:g.233538632_233538636dup
GRCh37.p13 chr 2	NC_000002.11:g.233538631_233538636dup
GRCh37.p13 chr 2	NC_000002.11:g.233538630_233538636dup
GRCh37.p13 chr 2	NC_000002.11:g.233538629_233538636dup
EFHD1 RefSeqGene	NG_051251.1:g.72858_72870del
EFHD1 RefSeqGene	NG_051251.1:g.72862_72870del
EFHD1 RefSeqGene	NG_051251.1:g.72866_72870del
EFHD1 RefSeqGene	NG_051251.1:g.72867_72870del
EFHD1 RefSeqGene	NG_051251.1:g.72868_72870del
EFHD1 RefSeqGene	NG_051251.1:g.72869_72870del
EFHD1 RefSeqGene	NG_051251.1:g.72870del
EFHD1 RefSeqGene	NG_051251.1:g.72870dup
EFHD1 RefSeqGene	NG_051251.1:g.72869_72870dup
EFHD1 RefSeqGene	NG_051251.1:g.72868_72870dup
EFHD1 RefSeqGene	NG_051251.1:g.72867_72870dup
EFHD1 RefSeqGene	NG_051251.1:g.72866_72870dup
EFHD1 RefSeqGene	NG_051251.1:g.72865_72870dup
EFHD1 RefSeqGene	NG_051251.1:g.72864_72870dup
EFHD1 RefSeqGene	NG_051251.1:g.72863_72870dup

Gene: EFHD1, EF-hand domain family member D1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
EFHD1 transcript variant 2	NM_001243252.2:c.297+1471… NM_001243252.2:c.297+1471_297+1483del	N/A	Intron Variant
EFHD1 transcript variant 3	NM_001308395.2:c.249+1471… NM_001308395.2:c.249+1471_249+1483del	N/A	Intron Variant
EFHD1 transcript variant 1	NM_025202.4:c.585+1471_58… NM_025202.4:c.585+1471_585+1483del	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)₁₉=	del(T)₁₃	del(T)₉	del(T)₅	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₅	dup(T)₆	dup(T)₇	dup(T)₈
GRCh38.p14 chr 2	NC_000002.12:g.232673908_232673926=	NC_000002.12:g.232673914_232673926del	NC_000002.12:g.232673918_232673926del	NC_000002.12:g.232673922_232673926del	NC_000002.12:g.232673923_232673926del	NC_000002.12:g.232673924_232673926del	NC_000002.12:g.232673925_232673926del	NC_000002.12:g.232673926del	NC_000002.12:g.232673926dup	NC_000002.12:g.232673925_232673926dup	NC_000002.12:g.232673924_232673926dup	NC_000002.12:g.232673923_232673926dup	NC_000002.12:g.232673922_232673926dup	NC_000002.12:g.232673921_232673926dup	NC_000002.12:g.232673920_232673926dup	NC_000002.12:g.232673919_232673926dup
GRCh37.p13 chr 2	NC_000002.11:g.233538618_233538636=	NC_000002.11:g.233538624_233538636del	NC_000002.11:g.233538628_233538636del	NC_000002.11:g.233538632_233538636del	NC_000002.11:g.233538633_233538636del	NC_000002.11:g.233538634_233538636del	NC_000002.11:g.233538635_233538636del	NC_000002.11:g.233538636del	NC_000002.11:g.233538636dup	NC_000002.11:g.233538635_233538636dup	NC_000002.11:g.233538634_233538636dup	NC_000002.11:g.233538633_233538636dup	NC_000002.11:g.233538632_233538636dup	NC_000002.11:g.233538631_233538636dup	NC_000002.11:g.233538630_233538636dup	NC_000002.11:g.233538629_233538636dup
EFHD1 RefSeqGene	NG_051251.1:g.72852_72870=	NG_051251.1:g.72858_72870del	NG_051251.1:g.72862_72870del	NG_051251.1:g.72866_72870del	NG_051251.1:g.72867_72870del	NG_051251.1:g.72868_72870del	NG_051251.1:g.72869_72870del	NG_051251.1:g.72870del	NG_051251.1:g.72870dup	NG_051251.1:g.72869_72870dup	NG_051251.1:g.72868_72870dup	NG_051251.1:g.72867_72870dup	NG_051251.1:g.72866_72870dup	NG_051251.1:g.72865_72870dup	NG_051251.1:g.72864_72870dup	NG_051251.1:g.72863_72870dup
EFHD1 transcript variant 2	NM_001243252.1:c.297+1465=	NM_001243252.1:c.297+1471_297+1483del	NM_001243252.1:c.297+1475_297+1483del	NM_001243252.1:c.297+1479_297+1483del	NM_001243252.1:c.297+1480_297+1483del	NM_001243252.1:c.297+1481_297+1483del	NM_001243252.1:c.297+1482_297+1483del	NM_001243252.1:c.297+1483del	NM_001243252.1:c.297+1483dup	NM_001243252.1:c.297+1482_297+1483dup	NM_001243252.1:c.297+1481_297+1483dup	NM_001243252.1:c.297+1480_297+1483dup	NM_001243252.1:c.297+1479_297+1483dup	NM_001243252.1:c.297+1478_297+1483dup	NM_001243252.1:c.297+1477_297+1483dup	NM_001243252.1:c.297+1476_297+1483dup
EFHD1 transcript variant 2	NM_001243252.2:c.297+1465=	NM_001243252.2:c.297+1471_297+1483del	NM_001243252.2:c.297+1475_297+1483del	NM_001243252.2:c.297+1479_297+1483del	NM_001243252.2:c.297+1480_297+1483del	NM_001243252.2:c.297+1481_297+1483del	NM_001243252.2:c.297+1482_297+1483del	NM_001243252.2:c.297+1483del	NM_001243252.2:c.297+1483dup	NM_001243252.2:c.297+1482_297+1483dup	NM_001243252.2:c.297+1481_297+1483dup	NM_001243252.2:c.297+1480_297+1483dup	NM_001243252.2:c.297+1479_297+1483dup	NM_001243252.2:c.297+1478_297+1483dup	NM_001243252.2:c.297+1477_297+1483dup	NM_001243252.2:c.297+1476_297+1483dup
EFHD1 transcript variant 3	NM_001308395.2:c.249+1465=	NM_001308395.2:c.249+1471_249+1483del	NM_001308395.2:c.249+1475_249+1483del	NM_001308395.2:c.249+1479_249+1483del	NM_001308395.2:c.249+1480_249+1483del	NM_001308395.2:c.249+1481_249+1483del	NM_001308395.2:c.249+1482_249+1483del	NM_001308395.2:c.249+1483del	NM_001308395.2:c.249+1483dup	NM_001308395.2:c.249+1482_249+1483dup	NM_001308395.2:c.249+1481_249+1483dup	NM_001308395.2:c.249+1480_249+1483dup	NM_001308395.2:c.249+1479_249+1483dup	NM_001308395.2:c.249+1478_249+1483dup	NM_001308395.2:c.249+1477_249+1483dup	NM_001308395.2:c.249+1476_249+1483dup
EFHD1 transcript variant 1	NM_025202.3:c.585+1465=	NM_025202.3:c.585+1471_585+1483del	NM_025202.3:c.585+1475_585+1483del	NM_025202.3:c.585+1479_585+1483del	NM_025202.3:c.585+1480_585+1483del	NM_025202.3:c.585+1481_585+1483del	NM_025202.3:c.585+1482_585+1483del	NM_025202.3:c.585+1483del	NM_025202.3:c.585+1483dup	NM_025202.3:c.585+1482_585+1483dup	NM_025202.3:c.585+1481_585+1483dup	NM_025202.3:c.585+1480_585+1483dup	NM_025202.3:c.585+1479_585+1483dup	NM_025202.3:c.585+1478_585+1483dup	NM_025202.3:c.585+1477_585+1483dup	NM_025202.3:c.585+1476_585+1483dup
EFHD1 transcript variant 1	NM_025202.4:c.585+1465=	NM_025202.4:c.585+1471_585+1483del	NM_025202.4:c.585+1475_585+1483del	NM_025202.4:c.585+1479_585+1483del	NM_025202.4:c.585+1480_585+1483del	NM_025202.4:c.585+1481_585+1483del	NM_025202.4:c.585+1482_585+1483del	NM_025202.4:c.585+1483del	NM_025202.4:c.585+1483dup	NM_025202.4:c.585+1482_585+1483dup	NM_025202.4:c.585+1481_585+1483dup	NM_025202.4:c.585+1480_585+1483dup	NM_025202.4:c.585+1479_585+1483dup	NM_025202.4:c.585+1478_585+1483dup	NM_025202.4:c.585+1477_585+1483dup	NM_025202.4:c.585+1476_585+1483dup

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#.

33 SubSNP, 25 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HUMANGENOME_JCVI	ss96738235	Dec 05, 2013 (142)
2	PJP	ss295031957	May 09, 2011 (137)
3	1000GENOMES	ss1369736650	Aug 21, 2014 (142)
4	EVA_GENOME_DK	ss1575642129	Apr 01, 2015 (144)
5	SWEGEN	ss2991544984	Nov 08, 2017 (151)
6	KHV_HUMAN_GENOMES	ss3802586918	Jul 13, 2019 (153)
7	GNOMAD	ss4063058760	Apr 26, 2021 (155)
8	GNOMAD	ss4063058761	Apr 26, 2021 (155)
9	GNOMAD	ss4063058762	Apr 26, 2021 (155)
10	GNOMAD	ss4063058763	Apr 26, 2021 (155)
11	GNOMAD	ss4063058764	Apr 26, 2021 (155)
12	GNOMAD	ss4063058765	Apr 26, 2021 (155)
13	GNOMAD	ss4063058766	Apr 26, 2021 (155)
14	GNOMAD	ss4063058767	Apr 26, 2021 (155)
15	GNOMAD	ss4063058770	Apr 26, 2021 (155)
16	GNOMAD	ss4063058771	Apr 26, 2021 (155)
17	GNOMAD	ss4063058772	Apr 26, 2021 (155)
18	GNOMAD	ss4063058773	Apr 26, 2021 (155)
19	GNOMAD	ss4063058774	Apr 26, 2021 (155)
20	TOMMO_GENOMICS	ss5157017724	Apr 26, 2021 (155)
21	TOMMO_GENOMICS	ss5157017725	Apr 26, 2021 (155)
22	TOMMO_GENOMICS	ss5157017726	Apr 26, 2021 (155)
23	TOMMO_GENOMICS	ss5157017727	Apr 26, 2021 (155)
24	1000G_HIGH_COVERAGE	ss5252434008	Oct 12, 2022 (156)
25	1000G_HIGH_COVERAGE	ss5252434009	Oct 12, 2022 (156)
26	HUGCELL_USP	ss5452005703	Oct 12, 2022 (156)
27	HUGCELL_USP	ss5452005704	Oct 12, 2022 (156)
28	TOMMO_GENOMICS	ss5688057574	Oct 12, 2022 (156)
29	TOMMO_GENOMICS	ss5688057575	Oct 12, 2022 (156)
30	TOMMO_GENOMICS	ss5688057576	Oct 12, 2022 (156)
31	TOMMO_GENOMICS	ss5688057577	Oct 12, 2022 (156)
32	TOMMO_GENOMICS	ss5688057578	Oct 12, 2022 (156)
33	YY_MCH	ss5803320248	Oct 12, 2022 (156)
34	1000Genomes	NC_000002.11 - 233538618	Oct 11, 2018 (152)
35	The Danish reference pan genome	NC_000002.11 - 233538618	Apr 25, 2020 (154)
36	gnomAD - Genomes Submission ignored due to conflicting rows: Row 94230390 (NC_000002.12:232673907::T 19799/110354) Row 94230391 (NC_000002.12:232673907::TT 123/110344) Row 94230392 (NC_000002.12:232673907::TTT 153/110308)...	-	Apr 26, 2021 (155)
37	gnomAD - Genomes Submission ignored due to conflicting rows: Row 94230390 (NC_000002.12:232673907::T 19799/110354) Row 94230391 (NC_000002.12:232673907::TT 123/110344) Row 94230392 (NC_000002.12:232673907::TTT 153/110308)...	-	Apr 26, 2021 (155)
38	gnomAD - Genomes Submission ignored due to conflicting rows: Row 94230390 (NC_000002.12:232673907::T 19799/110354) Row 94230391 (NC_000002.12:232673907::TT 123/110344) Row 94230392 (NC_000002.12:232673907::TTT 153/110308)...	-	Apr 26, 2021 (155)
39	gnomAD - Genomes Submission ignored due to conflicting rows: Row 94230390 (NC_000002.12:232673907::T 19799/110354) Row 94230391 (NC_000002.12:232673907::TT 123/110344) Row 94230392 (NC_000002.12:232673907::TTT 153/110308)...	-	Apr 26, 2021 (155)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 94230390 (NC_000002.12:232673907::T 19799/110354) Row 94230391 (NC_000002.12:232673907::TT 123/110344) Row 94230392 (NC_000002.12:232673907::TTT 153/110308)...	-	Apr 26, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 94230390 (NC_000002.12:232673907::T 19799/110354) Row 94230391 (NC_000002.12:232673907::TT 123/110344) Row 94230392 (NC_000002.12:232673907::TTT 153/110308)...	-	Apr 26, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 94230390 (NC_000002.12:232673907::T 19799/110354) Row 94230391 (NC_000002.12:232673907::TT 123/110344) Row 94230392 (NC_000002.12:232673907::TTT 153/110308)...	-	Apr 26, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 94230390 (NC_000002.12:232673907::T 19799/110354) Row 94230391 (NC_000002.12:232673907::TT 123/110344) Row 94230392 (NC_000002.12:232673907::TTT 153/110308)...	-	Apr 26, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 94230390 (NC_000002.12:232673907::T 19799/110354) Row 94230391 (NC_000002.12:232673907::TT 123/110344) Row 94230392 (NC_000002.12:232673907::TTT 153/110308)...	-	Apr 26, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 94230390 (NC_000002.12:232673907::T 19799/110354) Row 94230391 (NC_000002.12:232673907::TT 123/110344) Row 94230392 (NC_000002.12:232673907::TTT 153/110308)...	-	Apr 26, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 94230390 (NC_000002.12:232673907::T 19799/110354) Row 94230391 (NC_000002.12:232673907::TT 123/110344) Row 94230392 (NC_000002.12:232673907::TTT 153/110308)...	-	Apr 26, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 94230390 (NC_000002.12:232673907::T 19799/110354) Row 94230391 (NC_000002.12:232673907::TT 123/110344) Row 94230392 (NC_000002.12:232673907::TTT 153/110308)...	-	Apr 26, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 94230390 (NC_000002.12:232673907::T 19799/110354) Row 94230391 (NC_000002.12:232673907::TT 123/110344) Row 94230392 (NC_000002.12:232673907::TTT 153/110308)...	-	Apr 26, 2021 (155)
49	8.3KJPN Submission ignored due to conflicting rows: Row 14987031 (NC_000002.11:233538617::T 4699/16604) Row 14987032 (NC_000002.11:233538617::TT 16/16604) Row 14987033 (NC_000002.11:233538617:T: 23/16604)...	-	Apr 26, 2021 (155)
50	8.3KJPN Submission ignored due to conflicting rows: Row 14987031 (NC_000002.11:233538617::T 4699/16604) Row 14987032 (NC_000002.11:233538617::TT 16/16604) Row 14987033 (NC_000002.11:233538617:T: 23/16604)...	-	Apr 26, 2021 (155)
51	8.3KJPN Submission ignored due to conflicting rows: Row 14987031 (NC_000002.11:233538617::T 4699/16604) Row 14987032 (NC_000002.11:233538617::TT 16/16604) Row 14987033 (NC_000002.11:233538617:T: 23/16604)...	-	Apr 26, 2021 (155)
52	8.3KJPN Submission ignored due to conflicting rows: Row 14987031 (NC_000002.11:233538617::T 4699/16604) Row 14987032 (NC_000002.11:233538617::TT 16/16604) Row 14987033 (NC_000002.11:233538617:T: 23/16604)...	-	Apr 26, 2021 (155)
53	14KJPN Submission ignored due to conflicting rows: Row 21894678 (NC_000002.12:232673907::T 8411/28178) Row 21894679 (NC_000002.12:232673907::TT 15/28178) Row 21894680 (NC_000002.12:232673907:T: 30/28178)...	-	Oct 12, 2022 (156)
54	14KJPN Submission ignored due to conflicting rows: Row 21894678 (NC_000002.12:232673907::T 8411/28178) Row 21894679 (NC_000002.12:232673907::TT 15/28178) Row 21894680 (NC_000002.12:232673907:T: 30/28178)...	-	Oct 12, 2022 (156)
55	14KJPN Submission ignored due to conflicting rows: Row 21894678 (NC_000002.12:232673907::T 8411/28178) Row 21894679 (NC_000002.12:232673907::TT 15/28178) Row 21894680 (NC_000002.12:232673907:T: 30/28178)...	-	Oct 12, 2022 (156)
56	14KJPN Submission ignored due to conflicting rows: Row 21894678 (NC_000002.12:232673907::T 8411/28178) Row 21894679 (NC_000002.12:232673907::TT 15/28178) Row 21894680 (NC_000002.12:232673907:T: 30/28178)...	-	Oct 12, 2022 (156)
57	14KJPN Submission ignored due to conflicting rows: Row 21894678 (NC_000002.12:232673907::T 8411/28178) Row 21894679 (NC_000002.12:232673907::TT 15/28178) Row 21894680 (NC_000002.12:232673907:T: 30/28178)...	-	Oct 12, 2022 (156)
58	ALFA	NC_000002.12 - 232673908	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)
rs71398734	May 11, 2012 (137)
rs150925686	Sep 17, 2011 (135)
rs398043008	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
8767374192	NC_000002.12:232673907:TTTTTTTTTTT… NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTT	NC_000002.12:232673907:TTTTTTTTTTT… NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTT	(self)
ss2991544984	NC_000002.11:233538617:TTTTTTTTT:	NC_000002.12:232673907:TTTTTTTTTTT… NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
ss4063058774	NC_000002.12:232673907:TTTTTTTTT:	NC_000002.12:232673907:TTTTTTTTTTT… NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
8767374192	NC_000002.12:232673907:TTTTTTTTTTT… NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	NC_000002.12:232673907:TTTTTTTTTTT… NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
ss4063058773	NC_000002.12:232673907:TTTTT:	NC_000002.12:232673907:TTTTTTTTTTT… NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss4063058772	NC_000002.12:232673907:TTTT:	NC_000002.12:232673907:TTTTTTTTTTT… NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
8767374192	NC_000002.12:232673907:TTTTTTTTTTT… NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000002.12:232673907:TTTTTTTTTTT… NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4063058771	NC_000002.12:232673907:TT:	NC_000002.12:232673907:TTTTTTTTTTT… NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
8767374192	NC_000002.12:232673907:TTTTTTTTTTT… NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000002.12:232673907:TTTTTTTTTTT… NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
13223386, ss1369736650, ss5157017726	NC_000002.11:233538617:T:	NC_000002.12:232673907:TTTTTTTTTTT… NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3802586918, ss4063058770, ss5252434009, ss5452005703, ss5688057576	NC_000002.12:232673907:T:	NC_000002.12:232673907:TTTTTTTTTTT… NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
8767374192	NC_000002.12:232673907:TTTTTTTTTTT… NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000002.12:232673907:TTTTTTTTTTT… NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss295031957	NC_000002.10:233246880::T	NC_000002.12:232673907:TTTTTTTTTTT… NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
740351, ss1575642129, ss5157017724	NC_000002.11:233538617::T	NC_000002.12:232673907:TTTTTTTTTTT… NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4063058760, ss5252434008, ss5452005704, ss5688057574, ss5803320248	NC_000002.12:232673907::T	NC_000002.12:232673907:TTTTTTTTTTT… NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
8767374192	NC_000002.12:232673907:TTTTTTTTTTT… NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000002.12:232673907:TTTTTTTTTTT… NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss96738235	NT_005403.17:83748054::T	NC_000002.12:232673907:TTTTTTTTTTT… NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss5157017725	NC_000002.11:233538617::TT	NC_000002.12:232673907:TTTTTTTTTTT… NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4063058761, ss5688057575	NC_000002.12:232673907::TT	NC_000002.12:232673907:TTTTTTTTTTT… NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
8767374192	NC_000002.12:232673907:TTTTTTTTTTT… NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000002.12:232673907:TTTTTTTTTTT… NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss5157017727	NC_000002.11:233538617::TTT	NC_000002.12:232673907:TTTTTTTTTTT… NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4063058762, ss5688057577	NC_000002.12:232673907::TTT	NC_000002.12:232673907:TTTTTTTTTTT… NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4063058763, ss5688057578	NC_000002.12:232673907::TTTT	NC_000002.12:232673907:TTTTTTTTTTT… NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4063058764	NC_000002.12:232673907::TTTTT	NC_000002.12:232673907:TTTTTTTTTTT… NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
8767374192	NC_000002.12:232673907:TTTTTTTTTTT… NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	NC_000002.12:232673907:TTTTTTTTTTT… NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4063058765	NC_000002.12:232673907::TTTTTT	NC_000002.12:232673907:TTTTTTTTTTT… NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4063058766	NC_000002.12:232673907::TTTTTTT	NC_000002.12:232673907:TTTTTTTTTTT… NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4063058767	NC_000002.12:232673907::TTTTTTTT	NC_000002.12:232673907:TTTTTTTTTTT… NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3341372830	NC_000002.12:232673907:TTT:	NC_000002.12:232673907:TTTTTTTTTTT… NC_000002.12:232673907:TTTTTTTTTTTTTTTTTTT: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 rs11409819

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.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs11409819