Name: rs143585752
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.

rs143585752

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:187512278-187512295 (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(A)₉ / del(A)₆ / del(A)₅ / del(…
del(A)₉ / del(A)₆ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₇ / dup(A)₈ / dup(A)₉ / dup(A)₁₀ / dup(A)₁₂ / dup(A)₁₇ / dup(A)₁₈
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₉=0.000004 (1/264690, TOPMED)
dupA=0.01176 (165/14034, ALFA)
delA=0.38 (15/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CALCRL-AS1 : Intron Variant
TFPI : 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	14034	AAAAAAAAAAAAAAAAAA=0.97470	AAAAAAAAA=0.00000, AAAAAAAAAAAA=0.00000, AAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAA=0.00228, AAAAAAAAAAAAAAAAAAA=0.01176, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00755, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00221, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00071, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00078, AAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAA=0.00000	0.97822	0.002046	0.019734	32
European	Sub	11020	AAAAAAAAAAAAAAAAAA=0.96779	AAAAAAAAA=0.00000, AAAAAAAAAAAA=0.00000, AAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAA=0.00290, AAAAAAAAAAAAAAAAAAA=0.01497, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00962, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00281, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00091, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00100, AAAAAAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAAAAA=0.00000	0.972066	0.002625	0.025309	32
African	Sub	1792	AAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	66	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	1726	AAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	88	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	66	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	22	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	118	AAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Latin American 2	Sub	560	AAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	72	AAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	384	AAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000	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
TopMed	Global	Study-wide	264690	(A)₁₈=0.999996	del(A)₉=0.000004
Allele Frequency Aggregator	Total	Global	14034	(A)₁₈=0.97470	del(A)₉=0.00000, del(A)₆=0.00000, del(A)₅=0.00000, delAAA=0.00000, delAA=0.00000, delA=0.00228, dupA=0.01176, dupAA=0.00000, dupAAA=0.00000, dup(A)₈=0.00755, dup(A)₉=0.00221, dup(A)₁₇=0.00071, dup(A)₁₈=0.00078
Allele Frequency Aggregator	European	Sub	11020	(A)₁₈=0.96779	del(A)₉=0.00000, del(A)₆=0.00000, del(A)₅=0.00000, delAAA=0.00000, delAA=0.00000, delA=0.00290, dupA=0.01497, dupAA=0.00000, dupAAA=0.00000, dup(A)₈=0.00962, dup(A)₉=0.00281, dup(A)₁₇=0.00091, dup(A)₁₈=0.00100
Allele Frequency Aggregator	African	Sub	1792	(A)₁₈=1.0000	del(A)₉=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₈=0.0000, dup(A)₉=0.0000, dup(A)₁₇=0.0000, dup(A)₁₈=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	560	(A)₁₈=1.000	del(A)₉=0.000, del(A)₆=0.000, del(A)₅=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₈=0.000, dup(A)₉=0.000, dup(A)₁₇=0.000, dup(A)₁₈=0.000
Allele Frequency Aggregator	Other	Sub	384	(A)₁₈=1.000	del(A)₉=0.000, del(A)₆=0.000, del(A)₅=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₈=0.000, dup(A)₉=0.000, dup(A)₁₇=0.000, dup(A)₁₈=0.000
Allele Frequency Aggregator	Latin American 1	Sub	118	(A)₁₈=1.000	del(A)₉=0.000, del(A)₆=0.000, del(A)₅=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₈=0.000, dup(A)₉=0.000, dup(A)₁₇=0.000, dup(A)₁₈=0.000
Allele Frequency Aggregator	Asian	Sub	88	(A)₁₈=1.00	del(A)₉=0.00, del(A)₆=0.00, del(A)₅=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₈=0.00, dup(A)₉=0.00, dup(A)₁₇=0.00, dup(A)₁₈=0.00
Allele Frequency Aggregator	South Asian	Sub	72	(A)₁₈=1.00	del(A)₉=0.00, del(A)₆=0.00, del(A)₅=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₈=0.00, dup(A)₉=0.00, dup(A)₁₇=0.00, dup(A)₁₈=0.00
The Danish reference pan genome	Danish	Study-wide	40	(A)₁₈=0.62	delA=0.38

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.187512287_187512295del
GRCh38.p14 chr 2	NC_000002.12:g.187512290_187512295del
GRCh38.p14 chr 2	NC_000002.12:g.187512291_187512295del
GRCh38.p14 chr 2	NC_000002.12:g.187512292_187512295del
GRCh38.p14 chr 2	NC_000002.12:g.187512293_187512295del
GRCh38.p14 chr 2	NC_000002.12:g.187512294_187512295del
GRCh38.p14 chr 2	NC_000002.12:g.187512295del
GRCh38.p14 chr 2	NC_000002.12:g.187512295dup
GRCh38.p14 chr 2	NC_000002.12:g.187512294_187512295dup
GRCh38.p14 chr 2	NC_000002.12:g.187512293_187512295dup
GRCh38.p14 chr 2	NC_000002.12:g.187512289_187512295dup
GRCh38.p14 chr 2	NC_000002.12:g.187512288_187512295dup
GRCh38.p14 chr 2	NC_000002.12:g.187512287_187512295dup
GRCh38.p14 chr 2	NC_000002.12:g.187512286_187512295dup
GRCh38.p14 chr 2	NC_000002.12:g.187512284_187512295dup
GRCh38.p14 chr 2	NC_000002.12:g.187512279_187512295dup
GRCh38.p14 chr 2	NC_000002.12:g.187512278_187512295dup
GRCh37.p13 chr 2	NC_000002.11:g.188377014_188377022del
GRCh37.p13 chr 2	NC_000002.11:g.188377017_188377022del
GRCh37.p13 chr 2	NC_000002.11:g.188377018_188377022del
GRCh37.p13 chr 2	NC_000002.11:g.188377019_188377022del
GRCh37.p13 chr 2	NC_000002.11:g.188377020_188377022del
GRCh37.p13 chr 2	NC_000002.11:g.188377021_188377022del
GRCh37.p13 chr 2	NC_000002.11:g.188377022del
GRCh37.p13 chr 2	NC_000002.11:g.188377022dup
GRCh37.p13 chr 2	NC_000002.11:g.188377021_188377022dup
GRCh37.p13 chr 2	NC_000002.11:g.188377020_188377022dup
GRCh37.p13 chr 2	NC_000002.11:g.188377016_188377022dup
GRCh37.p13 chr 2	NC_000002.11:g.188377015_188377022dup
GRCh37.p13 chr 2	NC_000002.11:g.188377014_188377022dup
GRCh37.p13 chr 2	NC_000002.11:g.188377013_188377022dup
GRCh37.p13 chr 2	NC_000002.11:g.188377011_188377022dup
GRCh37.p13 chr 2	NC_000002.11:g.188377006_188377022dup
GRCh37.p13 chr 2	NC_000002.11:g.188377005_188377022dup
TFPI RefSeqGene (LRG_604)	NG_029714.2:g.58475_58483del
TFPI RefSeqGene (LRG_604)	NG_029714.2:g.58478_58483del
TFPI RefSeqGene (LRG_604)	NG_029714.2:g.58479_58483del
TFPI RefSeqGene (LRG_604)	NG_029714.2:g.58480_58483del
TFPI RefSeqGene (LRG_604)	NG_029714.2:g.58481_58483del
TFPI RefSeqGene (LRG_604)	NG_029714.2:g.58482_58483del
TFPI RefSeqGene (LRG_604)	NG_029714.2:g.58483del
TFPI RefSeqGene (LRG_604)	NG_029714.2:g.58483dup
TFPI RefSeqGene (LRG_604)	NG_029714.2:g.58482_58483dup
TFPI RefSeqGene (LRG_604)	NG_029714.2:g.58481_58483dup
TFPI RefSeqGene (LRG_604)	NG_029714.2:g.58477_58483dup
TFPI RefSeqGene (LRG_604)	NG_029714.2:g.58476_58483dup
TFPI RefSeqGene (LRG_604)	NG_029714.2:g.58475_58483dup
TFPI RefSeqGene (LRG_604)	NG_029714.2:g.58474_58483dup
TFPI RefSeqGene (LRG_604)	NG_029714.2:g.58472_58483dup
TFPI RefSeqGene (LRG_604)	NG_029714.2:g.58467_58483dup
TFPI RefSeqGene (LRG_604)	NG_029714.2:g.58466_58483dup

Gene: TFPI, tissue factor pathway inhibitor (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TFPI transcript variant 2	NM_001032281.4:c.-2-8516_… NM_001032281.4:c.-2-8516_-2-8508del	N/A	Intron Variant
TFPI transcript variant 3	NM_001318941.3:c.-3+1330_… NM_001318941.3:c.-3+1330_-3+1338del	N/A	Intron Variant
TFPI transcript variant 4	NM_001329239.2:c.-3+1330_… NM_001329239.2:c.-3+1330_-3+1338del	N/A	Intron Variant
TFPI transcript variant 5	NM_001329240.2:c.-3+1330_… NM_001329240.2:c.-3+1330_-3+1338del	N/A	Intron Variant
TFPI transcript variant 6	NM_001329241.2:c.-2-8516_… NM_001329241.2:c.-2-8516_-2-8508del	N/A	Intron Variant
TFPI transcript variant 1	NM_006287.6:c.-2-8516_-2-… NM_006287.6:c.-2-8516_-2-8508del	N/A	Intron Variant
TFPI transcript variant X1	XM_047445617.1:c.-3+1330_… XM_047445617.1:c.-3+1330_-3+1338del	N/A	Intron Variant
TFPI transcript variant X2	XM_047445618.1:c.-3+1330_… XM_047445618.1:c.-3+1330_-3+1338del	N/A	Intron Variant
TFPI transcript variant X3	XM_047445619.1:c.-3+1330_… XM_047445619.1:c.-3+1330_-3+1338del	N/A	Intron Variant
TFPI transcript variant X4	XM_047445620.1:c.-3+1330_… XM_047445620.1:c.-3+1330_-3+1338del	N/A	Intron Variant
TFPI transcript variant X5	XM_047445621.1:c.-2-8516_… XM_047445621.1:c.-2-8516_-2-8508del	N/A	Intron Variant
TFPI transcript variant X6	XM_047445622.1:c.-3+8256_… XM_047445622.1:c.-3+8256_-3+8264del	N/A	Intron Variant
TFPI transcript variant X7	XM_047445623.1:c.-3+1330_… XM_047445623.1:c.-3+1330_-3+1338del	N/A	Intron Variant

Gene: CALCRL-AS1, uncharacterized CALCRL-AS1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CALCRL-AS1 transcript variant X1	XR_001739821.2:n.	N/A	Intron Variant
CALCRL-AS1 transcript variant X6	XR_001739822.2:n.	N/A	Intron Variant
CALCRL-AS1 transcript variant X2	XR_007087482.1:n.	N/A	Intron Variant
CALCRL-AS1 transcript variant X3	XR_007087490.1:n.	N/A	Intron Variant
CALCRL-AS1 transcript variant X4	XR_007087497.1:n.	N/A	Intron Variant
CALCRL-AS1 transcript variant X5	XR_007087504.1:n.	N/A	Intron Variant
CALCRL-AS1 transcript variant X8	XR_007087522.1:n.	N/A	Intron Variant
CALCRL-AS1 transcript variant X7	XR_007087517.1:n.	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	(A)₁₈=	del(A)₉	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₇	dup(A)₈	dup(A)₉	dup(A)₁₀	dup(A)₁₂	dup(A)₁₇	dup(A)₁₈
GRCh38.p14 chr 2	NC_000002.12:g.187512278_187512295=	NC_000002.12:g.187512287_187512295del	NC_000002.12:g.187512290_187512295del	NC_000002.12:g.187512291_187512295del	NC_000002.12:g.187512292_187512295del	NC_000002.12:g.187512293_187512295del	NC_000002.12:g.187512294_187512295del	NC_000002.12:g.187512295del	NC_000002.12:g.187512295dup	NC_000002.12:g.187512294_187512295dup	NC_000002.12:g.187512293_187512295dup	NC_000002.12:g.187512289_187512295dup	NC_000002.12:g.187512288_187512295dup	NC_000002.12:g.187512287_187512295dup	NC_000002.12:g.187512286_187512295dup	NC_000002.12:g.187512284_187512295dup	NC_000002.12:g.187512279_187512295dup	NC_000002.12:g.187512278_187512295dup
GRCh37.p13 chr 2	NC_000002.11:g.188377005_188377022=	NC_000002.11:g.188377014_188377022del	NC_000002.11:g.188377017_188377022del	NC_000002.11:g.188377018_188377022del	NC_000002.11:g.188377019_188377022del	NC_000002.11:g.188377020_188377022del	NC_000002.11:g.188377021_188377022del	NC_000002.11:g.188377022del	NC_000002.11:g.188377022dup	NC_000002.11:g.188377021_188377022dup	NC_000002.11:g.188377020_188377022dup	NC_000002.11:g.188377016_188377022dup	NC_000002.11:g.188377015_188377022dup	NC_000002.11:g.188377014_188377022dup	NC_000002.11:g.188377013_188377022dup	NC_000002.11:g.188377011_188377022dup	NC_000002.11:g.188377006_188377022dup	NC_000002.11:g.188377005_188377022dup
TFPI RefSeqGene (LRG_604)	NG_029714.2:g.58466_58483=	NG_029714.2:g.58475_58483del	NG_029714.2:g.58478_58483del	NG_029714.2:g.58479_58483del	NG_029714.2:g.58480_58483del	NG_029714.2:g.58481_58483del	NG_029714.2:g.58482_58483del	NG_029714.2:g.58483del	NG_029714.2:g.58483dup	NG_029714.2:g.58482_58483dup	NG_029714.2:g.58481_58483dup	NG_029714.2:g.58477_58483dup	NG_029714.2:g.58476_58483dup	NG_029714.2:g.58475_58483dup	NG_029714.2:g.58474_58483dup	NG_029714.2:g.58472_58483dup	NG_029714.2:g.58467_58483dup	NG_029714.2:g.58466_58483dup
TFPI transcript variant 2	NM_001032281.2:c.-2-8508=	NM_001032281.2:c.-2-8516_-2-8508del	NM_001032281.2:c.-2-8513_-2-8508del	NM_001032281.2:c.-2-8512_-2-8508del	NM_001032281.2:c.-2-8511_-2-8508del	NM_001032281.2:c.-2-8510_-2-8508del	NM_001032281.2:c.-2-8509_-2-8508del	NM_001032281.2:c.-2-8508del	NM_001032281.2:c.-2-8508dup	NM_001032281.2:c.-2-8509_-2-8508dup	NM_001032281.2:c.-2-8510_-2-8508dup	NM_001032281.2:c.-2-8514_-2-8508dup	NM_001032281.2:c.-2-8515_-2-8508dup	NM_001032281.2:c.-2-8516_-2-8508dup	NM_001032281.2:c.-2-8517_-2-8508dup	NM_001032281.2:c.-2-8519_-2-8508dup	NM_001032281.2:c.-2-8524_-2-8508dup	NM_001032281.2:c.-2-8525_-2-8508dup
TFPI transcript variant 2	NM_001032281.4:c.-2-8508=	NM_001032281.4:c.-2-8516_-2-8508del	NM_001032281.4:c.-2-8513_-2-8508del	NM_001032281.4:c.-2-8512_-2-8508del	NM_001032281.4:c.-2-8511_-2-8508del	NM_001032281.4:c.-2-8510_-2-8508del	NM_001032281.4:c.-2-8509_-2-8508del	NM_001032281.4:c.-2-8508del	NM_001032281.4:c.-2-8508dup	NM_001032281.4:c.-2-8509_-2-8508dup	NM_001032281.4:c.-2-8510_-2-8508dup	NM_001032281.4:c.-2-8514_-2-8508dup	NM_001032281.4:c.-2-8515_-2-8508dup	NM_001032281.4:c.-2-8516_-2-8508dup	NM_001032281.4:c.-2-8517_-2-8508dup	NM_001032281.4:c.-2-8519_-2-8508dup	NM_001032281.4:c.-2-8524_-2-8508dup	NM_001032281.4:c.-2-8525_-2-8508dup
TFPI transcript variant 3	NM_001318941.3:c.-3+1338=	NM_001318941.3:c.-3+1330_-3+1338del	NM_001318941.3:c.-3+1333_-3+1338del	NM_001318941.3:c.-3+1334_-3+1338del	NM_001318941.3:c.-3+1335_-3+1338del	NM_001318941.3:c.-3+1336_-3+1338del	NM_001318941.3:c.-3+1337_-3+1338del	NM_001318941.3:c.-3+1338del	NM_001318941.3:c.-3+1338dup	NM_001318941.3:c.-3+1337_-3+1338dup	NM_001318941.3:c.-3+1336_-3+1338dup	NM_001318941.3:c.-3+1332_-3+1338dup	NM_001318941.3:c.-3+1331_-3+1338dup	NM_001318941.3:c.-3+1330_-3+1338dup	NM_001318941.3:c.-3+1329_-3+1338dup	NM_001318941.3:c.-3+1327_-3+1338dup	NM_001318941.3:c.-3+1322_-3+1338dup	NM_001318941.3:c.-3+1321_-3+1338dup
TFPI transcript variant 4	NM_001329239.2:c.-3+1338=	NM_001329239.2:c.-3+1330_-3+1338del	NM_001329239.2:c.-3+1333_-3+1338del	NM_001329239.2:c.-3+1334_-3+1338del	NM_001329239.2:c.-3+1335_-3+1338del	NM_001329239.2:c.-3+1336_-3+1338del	NM_001329239.2:c.-3+1337_-3+1338del	NM_001329239.2:c.-3+1338del	NM_001329239.2:c.-3+1338dup	NM_001329239.2:c.-3+1337_-3+1338dup	NM_001329239.2:c.-3+1336_-3+1338dup	NM_001329239.2:c.-3+1332_-3+1338dup	NM_001329239.2:c.-3+1331_-3+1338dup	NM_001329239.2:c.-3+1330_-3+1338dup	NM_001329239.2:c.-3+1329_-3+1338dup	NM_001329239.2:c.-3+1327_-3+1338dup	NM_001329239.2:c.-3+1322_-3+1338dup	NM_001329239.2:c.-3+1321_-3+1338dup
TFPI transcript variant 5	NM_001329240.2:c.-3+1338=	NM_001329240.2:c.-3+1330_-3+1338del	NM_001329240.2:c.-3+1333_-3+1338del	NM_001329240.2:c.-3+1334_-3+1338del	NM_001329240.2:c.-3+1335_-3+1338del	NM_001329240.2:c.-3+1336_-3+1338del	NM_001329240.2:c.-3+1337_-3+1338del	NM_001329240.2:c.-3+1338del	NM_001329240.2:c.-3+1338dup	NM_001329240.2:c.-3+1337_-3+1338dup	NM_001329240.2:c.-3+1336_-3+1338dup	NM_001329240.2:c.-3+1332_-3+1338dup	NM_001329240.2:c.-3+1331_-3+1338dup	NM_001329240.2:c.-3+1330_-3+1338dup	NM_001329240.2:c.-3+1329_-3+1338dup	NM_001329240.2:c.-3+1327_-3+1338dup	NM_001329240.2:c.-3+1322_-3+1338dup	NM_001329240.2:c.-3+1321_-3+1338dup
TFPI transcript variant 6	NM_001329241.2:c.-2-8508=	NM_001329241.2:c.-2-8516_-2-8508del	NM_001329241.2:c.-2-8513_-2-8508del	NM_001329241.2:c.-2-8512_-2-8508del	NM_001329241.2:c.-2-8511_-2-8508del	NM_001329241.2:c.-2-8510_-2-8508del	NM_001329241.2:c.-2-8509_-2-8508del	NM_001329241.2:c.-2-8508del	NM_001329241.2:c.-2-8508dup	NM_001329241.2:c.-2-8509_-2-8508dup	NM_001329241.2:c.-2-8510_-2-8508dup	NM_001329241.2:c.-2-8514_-2-8508dup	NM_001329241.2:c.-2-8515_-2-8508dup	NM_001329241.2:c.-2-8516_-2-8508dup	NM_001329241.2:c.-2-8517_-2-8508dup	NM_001329241.2:c.-2-8519_-2-8508dup	NM_001329241.2:c.-2-8524_-2-8508dup	NM_001329241.2:c.-2-8525_-2-8508dup
TFPI transcript variant 1	NM_006287.4:c.-2-8508=	NM_006287.4:c.-2-8516_-2-8508del	NM_006287.4:c.-2-8513_-2-8508del	NM_006287.4:c.-2-8512_-2-8508del	NM_006287.4:c.-2-8511_-2-8508del	NM_006287.4:c.-2-8510_-2-8508del	NM_006287.4:c.-2-8509_-2-8508del	NM_006287.4:c.-2-8508del	NM_006287.4:c.-2-8508dup	NM_006287.4:c.-2-8509_-2-8508dup	NM_006287.4:c.-2-8510_-2-8508dup	NM_006287.4:c.-2-8514_-2-8508dup	NM_006287.4:c.-2-8515_-2-8508dup	NM_006287.4:c.-2-8516_-2-8508dup	NM_006287.4:c.-2-8517_-2-8508dup	NM_006287.4:c.-2-8519_-2-8508dup	NM_006287.4:c.-2-8524_-2-8508dup	NM_006287.4:c.-2-8525_-2-8508dup
TFPI transcript variant 1	NM_006287.6:c.-2-8508=	NM_006287.6:c.-2-8516_-2-8508del	NM_006287.6:c.-2-8513_-2-8508del	NM_006287.6:c.-2-8512_-2-8508del	NM_006287.6:c.-2-8511_-2-8508del	NM_006287.6:c.-2-8510_-2-8508del	NM_006287.6:c.-2-8509_-2-8508del	NM_006287.6:c.-2-8508del	NM_006287.6:c.-2-8508dup	NM_006287.6:c.-2-8509_-2-8508dup	NM_006287.6:c.-2-8510_-2-8508dup	NM_006287.6:c.-2-8514_-2-8508dup	NM_006287.6:c.-2-8515_-2-8508dup	NM_006287.6:c.-2-8516_-2-8508dup	NM_006287.6:c.-2-8517_-2-8508dup	NM_006287.6:c.-2-8519_-2-8508dup	NM_006287.6:c.-2-8524_-2-8508dup	NM_006287.6:c.-2-8525_-2-8508dup
TFPI transcript variant X3	XM_005246818.1:c.-3+1338=	XM_005246818.1:c.-3+1330_-3+1338del	XM_005246818.1:c.-3+1333_-3+1338del	XM_005246818.1:c.-3+1334_-3+1338del	XM_005246818.1:c.-3+1335_-3+1338del	XM_005246818.1:c.-3+1336_-3+1338del	XM_005246818.1:c.-3+1337_-3+1338del	XM_005246818.1:c.-3+1338del	XM_005246818.1:c.-3+1338dup	XM_005246818.1:c.-3+1337_-3+1338dup	XM_005246818.1:c.-3+1336_-3+1338dup	XM_005246818.1:c.-3+1332_-3+1338dup	XM_005246818.1:c.-3+1331_-3+1338dup	XM_005246818.1:c.-3+1330_-3+1338dup	XM_005246818.1:c.-3+1329_-3+1338dup	XM_005246818.1:c.-3+1327_-3+1338dup	XM_005246818.1:c.-3+1322_-3+1338dup	XM_005246818.1:c.-3+1321_-3+1338dup
TFPI transcript variant X6	XM_005246819.1:c.-3+8264=	XM_005246819.1:c.-3+8256_-3+8264del	XM_005246819.1:c.-3+8259_-3+8264del	XM_005246819.1:c.-3+8260_-3+8264del	XM_005246819.1:c.-3+8261_-3+8264del	XM_005246819.1:c.-3+8262_-3+8264del	XM_005246819.1:c.-3+8263_-3+8264del	XM_005246819.1:c.-3+8264del	XM_005246819.1:c.-3+8264dup	XM_005246819.1:c.-3+8263_-3+8264dup	XM_005246819.1:c.-3+8262_-3+8264dup	XM_005246819.1:c.-3+8258_-3+8264dup	XM_005246819.1:c.-3+8257_-3+8264dup	XM_005246819.1:c.-3+8256_-3+8264dup	XM_005246819.1:c.-3+8255_-3+8264dup	XM_005246819.1:c.-3+8253_-3+8264dup	XM_005246819.1:c.-3+8248_-3+8264dup	XM_005246819.1:c.-3+8247_-3+8264dup
TFPI transcript variant X7	XM_005246820.1:c.-3+1338=	XM_005246820.1:c.-3+1330_-3+1338del	XM_005246820.1:c.-3+1333_-3+1338del	XM_005246820.1:c.-3+1334_-3+1338del	XM_005246820.1:c.-3+1335_-3+1338del	XM_005246820.1:c.-3+1336_-3+1338del	XM_005246820.1:c.-3+1337_-3+1338del	XM_005246820.1:c.-3+1338del	XM_005246820.1:c.-3+1338dup	XM_005246820.1:c.-3+1337_-3+1338dup	XM_005246820.1:c.-3+1336_-3+1338dup	XM_005246820.1:c.-3+1332_-3+1338dup	XM_005246820.1:c.-3+1331_-3+1338dup	XM_005246820.1:c.-3+1330_-3+1338dup	XM_005246820.1:c.-3+1329_-3+1338dup	XM_005246820.1:c.-3+1327_-3+1338dup	XM_005246820.1:c.-3+1322_-3+1338dup	XM_005246820.1:c.-3+1321_-3+1338dup
TFPI transcript variant X1	XM_047445617.1:c.-3+1338=	XM_047445617.1:c.-3+1330_-3+1338del	XM_047445617.1:c.-3+1333_-3+1338del	XM_047445617.1:c.-3+1334_-3+1338del	XM_047445617.1:c.-3+1335_-3+1338del	XM_047445617.1:c.-3+1336_-3+1338del	XM_047445617.1:c.-3+1337_-3+1338del	XM_047445617.1:c.-3+1338del	XM_047445617.1:c.-3+1338dup	XM_047445617.1:c.-3+1337_-3+1338dup	XM_047445617.1:c.-3+1336_-3+1338dup	XM_047445617.1:c.-3+1332_-3+1338dup	XM_047445617.1:c.-3+1331_-3+1338dup	XM_047445617.1:c.-3+1330_-3+1338dup	XM_047445617.1:c.-3+1329_-3+1338dup	XM_047445617.1:c.-3+1327_-3+1338dup	XM_047445617.1:c.-3+1322_-3+1338dup	XM_047445617.1:c.-3+1321_-3+1338dup
TFPI transcript variant X2	XM_047445618.1:c.-3+1338=	XM_047445618.1:c.-3+1330_-3+1338del	XM_047445618.1:c.-3+1333_-3+1338del	XM_047445618.1:c.-3+1334_-3+1338del	XM_047445618.1:c.-3+1335_-3+1338del	XM_047445618.1:c.-3+1336_-3+1338del	XM_047445618.1:c.-3+1337_-3+1338del	XM_047445618.1:c.-3+1338del	XM_047445618.1:c.-3+1338dup	XM_047445618.1:c.-3+1337_-3+1338dup	XM_047445618.1:c.-3+1336_-3+1338dup	XM_047445618.1:c.-3+1332_-3+1338dup	XM_047445618.1:c.-3+1331_-3+1338dup	XM_047445618.1:c.-3+1330_-3+1338dup	XM_047445618.1:c.-3+1329_-3+1338dup	XM_047445618.1:c.-3+1327_-3+1338dup	XM_047445618.1:c.-3+1322_-3+1338dup	XM_047445618.1:c.-3+1321_-3+1338dup
TFPI transcript variant X3	XM_047445619.1:c.-3+1338=	XM_047445619.1:c.-3+1330_-3+1338del	XM_047445619.1:c.-3+1333_-3+1338del	XM_047445619.1:c.-3+1334_-3+1338del	XM_047445619.1:c.-3+1335_-3+1338del	XM_047445619.1:c.-3+1336_-3+1338del	XM_047445619.1:c.-3+1337_-3+1338del	XM_047445619.1:c.-3+1338del	XM_047445619.1:c.-3+1338dup	XM_047445619.1:c.-3+1337_-3+1338dup	XM_047445619.1:c.-3+1336_-3+1338dup	XM_047445619.1:c.-3+1332_-3+1338dup	XM_047445619.1:c.-3+1331_-3+1338dup	XM_047445619.1:c.-3+1330_-3+1338dup	XM_047445619.1:c.-3+1329_-3+1338dup	XM_047445619.1:c.-3+1327_-3+1338dup	XM_047445619.1:c.-3+1322_-3+1338dup	XM_047445619.1:c.-3+1321_-3+1338dup
TFPI transcript variant X4	XM_047445620.1:c.-3+1338=	XM_047445620.1:c.-3+1330_-3+1338del	XM_047445620.1:c.-3+1333_-3+1338del	XM_047445620.1:c.-3+1334_-3+1338del	XM_047445620.1:c.-3+1335_-3+1338del	XM_047445620.1:c.-3+1336_-3+1338del	XM_047445620.1:c.-3+1337_-3+1338del	XM_047445620.1:c.-3+1338del	XM_047445620.1:c.-3+1338dup	XM_047445620.1:c.-3+1337_-3+1338dup	XM_047445620.1:c.-3+1336_-3+1338dup	XM_047445620.1:c.-3+1332_-3+1338dup	XM_047445620.1:c.-3+1331_-3+1338dup	XM_047445620.1:c.-3+1330_-3+1338dup	XM_047445620.1:c.-3+1329_-3+1338dup	XM_047445620.1:c.-3+1327_-3+1338dup	XM_047445620.1:c.-3+1322_-3+1338dup	XM_047445620.1:c.-3+1321_-3+1338dup
TFPI transcript variant X5	XM_047445621.1:c.-2-8508=	XM_047445621.1:c.-2-8516_-2-8508del	XM_047445621.1:c.-2-8513_-2-8508del	XM_047445621.1:c.-2-8512_-2-8508del	XM_047445621.1:c.-2-8511_-2-8508del	XM_047445621.1:c.-2-8510_-2-8508del	XM_047445621.1:c.-2-8509_-2-8508del	XM_047445621.1:c.-2-8508del	XM_047445621.1:c.-2-8508dup	XM_047445621.1:c.-2-8509_-2-8508dup	XM_047445621.1:c.-2-8510_-2-8508dup	XM_047445621.1:c.-2-8514_-2-8508dup	XM_047445621.1:c.-2-8515_-2-8508dup	XM_047445621.1:c.-2-8516_-2-8508dup	XM_047445621.1:c.-2-8517_-2-8508dup	XM_047445621.1:c.-2-8519_-2-8508dup	XM_047445621.1:c.-2-8524_-2-8508dup	XM_047445621.1:c.-2-8525_-2-8508dup
TFPI transcript variant X6	XM_047445622.1:c.-3+8264=	XM_047445622.1:c.-3+8256_-3+8264del	XM_047445622.1:c.-3+8259_-3+8264del	XM_047445622.1:c.-3+8260_-3+8264del	XM_047445622.1:c.-3+8261_-3+8264del	XM_047445622.1:c.-3+8262_-3+8264del	XM_047445622.1:c.-3+8263_-3+8264del	XM_047445622.1:c.-3+8264del	XM_047445622.1:c.-3+8264dup	XM_047445622.1:c.-3+8263_-3+8264dup	XM_047445622.1:c.-3+8262_-3+8264dup	XM_047445622.1:c.-3+8258_-3+8264dup	XM_047445622.1:c.-3+8257_-3+8264dup	XM_047445622.1:c.-3+8256_-3+8264dup	XM_047445622.1:c.-3+8255_-3+8264dup	XM_047445622.1:c.-3+8253_-3+8264dup	XM_047445622.1:c.-3+8248_-3+8264dup	XM_047445622.1:c.-3+8247_-3+8264dup
TFPI transcript variant X7	XM_047445623.1:c.-3+1338=	XM_047445623.1:c.-3+1330_-3+1338del	XM_047445623.1:c.-3+1333_-3+1338del	XM_047445623.1:c.-3+1334_-3+1338del	XM_047445623.1:c.-3+1335_-3+1338del	XM_047445623.1:c.-3+1336_-3+1338del	XM_047445623.1:c.-3+1337_-3+1338del	XM_047445623.1:c.-3+1338del	XM_047445623.1:c.-3+1338dup	XM_047445623.1:c.-3+1337_-3+1338dup	XM_047445623.1:c.-3+1336_-3+1338dup	XM_047445623.1:c.-3+1332_-3+1338dup	XM_047445623.1:c.-3+1331_-3+1338dup	XM_047445623.1:c.-3+1330_-3+1338dup	XM_047445623.1:c.-3+1329_-3+1338dup	XM_047445623.1:c.-3+1327_-3+1338dup	XM_047445623.1:c.-3+1322_-3+1338dup	XM_047445623.1:c.-3+1321_-3+1338dup

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#.

43 SubSNP, 28 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	GMI	ss288267036	May 04, 2012 (137)
2	PJP	ss295018706	May 09, 2011 (134)
3	SSIP	ss947070771	Aug 21, 2014 (142)
4	EVA_GENOME_DK	ss1575583838	Apr 01, 2015 (144)
5	SWEGEN	ss2991044127	Nov 08, 2017 (151)
6	ACPOP	ss3729205406	Jul 13, 2019 (153)
7	ACPOP	ss3729205407	Jul 13, 2019 (153)
8	ACPOP	ss3729205408	Jul 13, 2019 (153)
9	ACPOP	ss3729205409	Jul 13, 2019 (153)
10	ACPOP	ss3729205410	Jul 13, 2019 (153)
11	PACBIO	ss3784097644	Jul 13, 2019 (153)
12	EVA	ss3827409508	Apr 25, 2020 (154)
13	EVA	ss3842544807	Apr 25, 2020 (154)
14	GNOMAD	ss4057557391	Apr 26, 2021 (155)
15	GNOMAD	ss4057557392	Apr 26, 2021 (155)
16	GNOMAD	ss4057557393	Apr 26, 2021 (155)
17	GNOMAD	ss4057557394	Apr 26, 2021 (155)
18	GNOMAD	ss4057557395	Apr 26, 2021 (155)
19	GNOMAD	ss4057557396	Apr 26, 2021 (155)
20	GNOMAD	ss4057557397	Apr 26, 2021 (155)
21	GNOMAD	ss4057557398	Apr 26, 2021 (155)
22	GNOMAD	ss4057557399	Apr 26, 2021 (155)
23	GNOMAD	ss4057557401	Apr 26, 2021 (155)
24	GNOMAD	ss4057557402	Apr 26, 2021 (155)
25	GNOMAD	ss4057557403	Apr 26, 2021 (155)
26	GNOMAD	ss4057557404	Apr 26, 2021 (155)
27	TOPMED	ss4537618589	Apr 26, 2021 (155)
28	TOMMO_GENOMICS	ss5155609939	Apr 26, 2021 (155)
29	TOMMO_GENOMICS	ss5155609940	Apr 26, 2021 (155)
30	TOMMO_GENOMICS	ss5155609941	Apr 26, 2021 (155)
31	1000G_HIGH_COVERAGE	ss5251347744	Oct 12, 2022 (156)
32	1000G_HIGH_COVERAGE	ss5251347745	Oct 12, 2022 (156)
33	1000G_HIGH_COVERAGE	ss5251347746	Oct 12, 2022 (156)
34	1000G_HIGH_COVERAGE	ss5251347747	Oct 12, 2022 (156)
35	HUGCELL_USP	ss5451031812	Oct 12, 2022 (156)
36	HUGCELL_USP	ss5451031813	Oct 12, 2022 (156)
37	HUGCELL_USP	ss5451031814	Oct 12, 2022 (156)
38	HUGCELL_USP	ss5451031815	Oct 12, 2022 (156)
39	TOMMO_GENOMICS	ss5686233369	Oct 12, 2022 (156)
40	TOMMO_GENOMICS	ss5686233370	Oct 12, 2022 (156)
41	TOMMO_GENOMICS	ss5686233371	Oct 12, 2022 (156)
42	TOMMO_GENOMICS	ss5686233372	Oct 12, 2022 (156)
43	EVA	ss5852877460	Oct 12, 2022 (156)
44	The Danish reference pan genome	NC_000002.11 - 188377005	Apr 25, 2020 (154)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 85084453 (NC_000002.12:187512277::A 11415/100960) Row 85084454 (NC_000002.12:187512277::AA 180/101074) Row 85084455 (NC_000002.12:187512277::AAA 3/101084)...	-	Apr 26, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 85084453 (NC_000002.12:187512277::A 11415/100960) Row 85084454 (NC_000002.12:187512277::AA 180/101074) Row 85084455 (NC_000002.12:187512277::AAA 3/101084)...	-	Apr 26, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 85084453 (NC_000002.12:187512277::A 11415/100960) Row 85084454 (NC_000002.12:187512277::AA 180/101074) Row 85084455 (NC_000002.12:187512277::AAA 3/101084)...	-	Apr 26, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 85084453 (NC_000002.12:187512277::A 11415/100960) Row 85084454 (NC_000002.12:187512277::AA 180/101074) Row 85084455 (NC_000002.12:187512277::AAA 3/101084)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 85084453 (NC_000002.12:187512277::A 11415/100960) Row 85084454 (NC_000002.12:187512277::AA 180/101074) Row 85084455 (NC_000002.12:187512277::AAA 3/101084)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 85084453 (NC_000002.12:187512277::A 11415/100960) Row 85084454 (NC_000002.12:187512277::AA 180/101074) Row 85084455 (NC_000002.12:187512277::AAA 3/101084)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 85084453 (NC_000002.12:187512277::A 11415/100960) Row 85084454 (NC_000002.12:187512277::AA 180/101074) Row 85084455 (NC_000002.12:187512277::AAA 3/101084)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 85084453 (NC_000002.12:187512277::A 11415/100960) Row 85084454 (NC_000002.12:187512277::AA 180/101074) Row 85084455 (NC_000002.12:187512277::AAA 3/101084)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 85084453 (NC_000002.12:187512277::A 11415/100960) Row 85084454 (NC_000002.12:187512277::AA 180/101074) Row 85084455 (NC_000002.12:187512277::AAA 3/101084)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 85084453 (NC_000002.12:187512277::A 11415/100960) Row 85084454 (NC_000002.12:187512277::AA 180/101074) Row 85084455 (NC_000002.12:187512277::AAA 3/101084)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 85084453 (NC_000002.12:187512277::A 11415/100960) Row 85084454 (NC_000002.12:187512277::AA 180/101074) Row 85084455 (NC_000002.12:187512277::AAA 3/101084)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 85084453 (NC_000002.12:187512277::A 11415/100960) Row 85084454 (NC_000002.12:187512277::AA 180/101074) Row 85084455 (NC_000002.12:187512277::AAA 3/101084)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 85084453 (NC_000002.12:187512277::A 11415/100960) Row 85084454 (NC_000002.12:187512277::AA 180/101074) Row 85084455 (NC_000002.12:187512277::AAA 3/101084)...	-	Apr 26, 2021 (155)
58	Northern Sweden Submission ignored due to conflicting rows: Row 2490271 (NC_000002.11:188377004::AAAAAAAA 41/570) Row 2490272 (NC_000002.11:188377004::AAAAAAAAAAAAAAAAAA 3/570) Row 2490273 (NC_000002.11:188377004::AAAAAAAAA 15/570)...	-	Jul 13, 2019 (153)
59	Northern Sweden Submission ignored due to conflicting rows: Row 2490271 (NC_000002.11:188377004::AAAAAAAA 41/570) Row 2490272 (NC_000002.11:188377004::AAAAAAAAAAAAAAAAAA 3/570) Row 2490273 (NC_000002.11:188377004::AAAAAAAAA 15/570)...	-	Jul 13, 2019 (153)
60	Northern Sweden Submission ignored due to conflicting rows: Row 2490271 (NC_000002.11:188377004::AAAAAAAA 41/570) Row 2490272 (NC_000002.11:188377004::AAAAAAAAAAAAAAAAAA 3/570) Row 2490273 (NC_000002.11:188377004::AAAAAAAAA 15/570)...	-	Jul 13, 2019 (153)
61	Northern Sweden Submission ignored due to conflicting rows: Row 2490271 (NC_000002.11:188377004::AAAAAAAA 41/570) Row 2490272 (NC_000002.11:188377004::AAAAAAAAAAAAAAAAAA 3/570) Row 2490273 (NC_000002.11:188377004::AAAAAAAAA 15/570)...	-	Jul 13, 2019 (153)
62	Northern Sweden Submission ignored due to conflicting rows: Row 2490271 (NC_000002.11:188377004::AAAAAAAA 41/570) Row 2490272 (NC_000002.11:188377004::AAAAAAAAAAAAAAAAAA 3/570) Row 2490273 (NC_000002.11:188377004::AAAAAAAAA 15/570)...	-	Jul 13, 2019 (153)
63	8.3KJPN Submission ignored due to conflicting rows: Row 13579246 (NC_000002.11:188377004::A 2496/16734) Row 13579247 (NC_000002.11:188377004:A: 243/16734) Row 13579248 (NC_000002.11:188377004::AA 9/16734)	-	Apr 26, 2021 (155)
64	8.3KJPN Submission ignored due to conflicting rows: Row 13579246 (NC_000002.11:188377004::A 2496/16734) Row 13579247 (NC_000002.11:188377004:A: 243/16734) Row 13579248 (NC_000002.11:188377004::AA 9/16734)	-	Apr 26, 2021 (155)
65	8.3KJPN Submission ignored due to conflicting rows: Row 13579246 (NC_000002.11:188377004::A 2496/16734) Row 13579247 (NC_000002.11:188377004:A: 243/16734) Row 13579248 (NC_000002.11:188377004::AA 9/16734)	-	Apr 26, 2021 (155)
66	14KJPN Submission ignored due to conflicting rows: Row 20070473 (NC_000002.12:187512277::A 4145/28072) Row 20070474 (NC_000002.12:187512277:A: 392/28072) Row 20070475 (NC_000002.12:187512277::AA 17/28072)...	-	Oct 12, 2022 (156)
67	14KJPN Submission ignored due to conflicting rows: Row 20070473 (NC_000002.12:187512277::A 4145/28072) Row 20070474 (NC_000002.12:187512277:A: 392/28072) Row 20070475 (NC_000002.12:187512277::AA 17/28072)...	-	Oct 12, 2022 (156)
68	14KJPN Submission ignored due to conflicting rows: Row 20070473 (NC_000002.12:187512277::A 4145/28072) Row 20070474 (NC_000002.12:187512277:A: 392/28072) Row 20070475 (NC_000002.12:187512277::AA 17/28072)...	-	Oct 12, 2022 (156)
69	14KJPN Submission ignored due to conflicting rows: Row 20070473 (NC_000002.12:187512277::A 4145/28072) Row 20070474 (NC_000002.12:187512277:A: 392/28072) Row 20070475 (NC_000002.12:187512277::AA 17/28072)...	-	Oct 12, 2022 (156)
70	TopMed	NC_000002.12 - 187512278	Apr 26, 2021 (155)
71	ALFA	NC_000002.12 - 187512278	Apr 26, 2021 (155)

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

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
341441468, ss4537618589	NC_000002.12:187512277:AAAAAAAAA:	NC_000002.12:187512277:AAAAAAAAAAA… NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
15139715216	NC_000002.12:187512277:AAAAAAAAAAA… NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAA	NC_000002.12:187512277:AAAAAAAAAAA… NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
15139715216	NC_000002.12:187512277:AAAAAAAAAAA… NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000002.12:187512277:AAAAAAAAAAA… NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
15139715216	NC_000002.12:187512277:AAAAAAAAAAA… NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000002.12:187512277:AAAAAAAAAAA… NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4057557404	NC_000002.12:187512277:AAAA:	NC_000002.12:187512277:AAAAAAAAAAA… NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4057557403, ss5686233372	NC_000002.12:187512277:AAA:	NC_000002.12:187512277:AAAAAAAAAAA… NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
15139715216	NC_000002.12:187512277:AAAAAAAAAAA… NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000002.12:187512277:AAAAAAAAAAA… NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4057557402, ss5251347747, ss5451031813	NC_000002.12:187512277:AA:	NC_000002.12:187512277:AAAAAAAAAAA… NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
15139715216	NC_000002.12:187512277:AAAAAAAAAAA… NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000002.12:187512277:AAAAAAAAAAA… NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss288267036	NC_000002.10:188085249:A:	NC_000002.12:187512277:AAAAAAAAAAA… NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
720417, ss1575583838, ss2991044127, ss3784097644, ss3827409508, ss5155609940	NC_000002.11:188377004:A:	NC_000002.12:187512277:AAAAAAAAAAA… NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4057557401, ss5251347745, ss5451031814, ss5686233370, ss5852877460	NC_000002.12:187512277:A:	NC_000002.12:187512277:AAAAAAAAAAA… NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
15139715216	NC_000002.12:187512277:AAAAAAAAAAA… NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000002.12:187512277:AAAAAAAAAAA… NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss295018706	NC_000002.10:188085250::A	NC_000002.12:187512277:AAAAAAAAAAA… NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3729205409, ss5155609939	NC_000002.11:188377004::A	NC_000002.12:187512277:AAAAAAAAAAA… NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss947070771	NC_000002.11:188377005::A	NC_000002.12:187512277:AAAAAAAAAAA… NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3842544807, ss4057557391, ss5251347744, ss5451031812, ss5686233369	NC_000002.12:187512277::A	NC_000002.12:187512277:AAAAAAAAAAA… NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
15139715216	NC_000002.12:187512277:AAAAAAAAAAA… NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000002.12:187512277:AAAAAAAAAAA… NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss5155609941	NC_000002.11:188377004::AA	NC_000002.12:187512277:AAAAAAAAAAA… NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4057557392, ss5251347746, ss5451031815, ss5686233371	NC_000002.12:187512277::AA	NC_000002.12:187512277:AAAAAAAAAAA… NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
15139715216	NC_000002.12:187512277:AAAAAAAAAAA… NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000002.12:187512277:AAAAAAAAAAA… NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4057557393	NC_000002.12:187512277::AAA	NC_000002.12:187512277:AAAAAAAAAAA… NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
15139715216	NC_000002.12:187512277:AAAAAAAAAAA… NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000002.12:187512277:AAAAAAAAAAA… NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4057557394	NC_000002.12:187512277::AAAAAAA	NC_000002.12:187512277:AAAAAAAAAAA… NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3729205406	NC_000002.11:188377004::AAAAAAAA	NC_000002.12:187512277:AAAAAAAAAAA… NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4057557395	NC_000002.12:187512277::AAAAAAAA	NC_000002.12:187512277:AAAAAAAAAAA… NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
15139715216	NC_000002.12:187512277:AAAAAAAAAAA… NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:187512277:AAAAAAAAAAA… NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3729205408	NC_000002.11:188377004::AAAAAAAAA	NC_000002.12:187512277:AAAAAAAAAAA… NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4057557396	NC_000002.12:187512277::AAAAAAAAA	NC_000002.12:187512277:AAAAAAAAAAA… NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
15139715216	NC_000002.12:187512277:AAAAAAAAAAA… NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:187512277:AAAAAAAAAAA… NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4057557397	NC_000002.12:187512277::AAAAAAAAAA	NC_000002.12:187512277:AAAAAAAAAAA… NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4057557398	NC_000002.12:187512277::AAAAAAAAAA… NC_000002.12:187512277::AAAAAAAAAAAA	NC_000002.12:187512277:AAAAAAAAAAA… NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3729205410	NC_000002.11:188377004::AAAAAAAAAA… NC_000002.11:188377004::AAAAAAAAAAAAAAAAA	NC_000002.12:187512277:AAAAAAAAAAA… NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
15139715216	NC_000002.12:187512277:AAAAAAAAAAA… NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:187512277:AAAAAAAAAAA… NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3729205407	NC_000002.11:188377004::AAAAAAAAAA… NC_000002.11:188377004::AAAAAAAAAAAAAAAAAA	NC_000002.12:187512277:AAAAAAAAAAA… NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4057557399	NC_000002.12:187512277::AAAAAAAAAA… NC_000002.12:187512277::AAAAAAAAAAAAAAAAAA	NC_000002.12:187512277:AAAAAAAAAAA… NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
15139715216	NC_000002.12:187512277:AAAAAAAAAAA… NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000002.12:187512277:AAAAAAAAAAA… NC_000002.12:187512277:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(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 rs143585752

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

rs143585752