Name: rs58978469
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.

rs58978469

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr21:18162412-18162436 (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(CT)₆ / del(CT)₅ / del(CT)₄ / d…
del(CT)₆ / del(CT)₅ / del(CT)₄ / del(CT)₃ / delCTCT / delCT / dupCT / dupCTCT / dup(CT)₃ / dup(CT)₄ / dup(CT)₅ / dup(CT)₆ / dup(CT)₇
Variation Type: Indel Insertion and Deletion
Frequency: dup(CT)₅=0.003075 (814/264690, TOPMED)
dupCTCT=0.1286 (644/5008, 1000G)
dup(CT)₃=0.2565 (1183/4612, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CHODL : 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	4612	TCTCTCTCTCTCTCTCTCTCTCTCT=0.0787	TCTCTCTCTCTCT=0.0000, TCTCTCTCTCTCTCT=0.0000, TCTCTCTCTCTCTCTCT=0.0000, TCTCTCTCTCTCTCTCTCT=0.0063, TCTCTCTCTCTCTCTCTCTCT=0.0009, TCTCTCTCTCTCTCTCTCTCTCT=0.5007, TCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.1546, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.2565, TCTCTCTCTCTCTCTCTCTCTCTCTCT=0.0024, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.0000, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.0000, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.0000, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.0000	0.444527	0.117604	0.43787	0
European	Sub	4488	TCTCTCTCTCTCTCTCTCTCTCTCT=0.0550	TCTCTCTCTCTCT=0.0000, TCTCTCTCTCTCTCT=0.0000, TCTCTCTCTCTCTCTCT=0.0000, TCTCTCTCTCTCTCTCTCT=0.0065, TCTCTCTCTCTCTCTCTCTCT=0.0009, TCTCTCTCTCTCTCTCTCTCTCT=0.5136, TCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.1589, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.2627, TCTCTCTCTCTCTCTCTCTCTCTCTCT=0.0025, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.0000, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.0000, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.0000, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.0000	0.445104	0.117211	0.437685	0
African	Sub	30	TCTCTCTCTCTCTCTCTCTCTCTCT=1.00	TCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00	0	0	0	N/A
African Others	Sub	0	TCTCTCTCTCTCTCTCTCTCTCTCT=0	TCTCTCTCTCTCT=0, TCTCTCTCTCTCTCT=0, TCTCTCTCTCTCTCTCT=0, TCTCTCTCTCTCTCTCTCT=0, TCTCTCTCTCTCTCTCTCTCT=0, TCTCTCTCTCTCTCTCTCTCTCT=0, TCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0, TCTCTCTCTCTCTCTCTCTCTCTCTCT=0, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0	0	0	0	N/A
African American	Sub	30	TCTCTCTCTCTCTCTCTCTCTCTCT=1.00	TCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00	0	0	0	N/A
Asian	Sub	30	TCTCTCTCTCTCTCTCTCTCTCTCT=1.00	TCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00	0	0	0	N/A
East Asian	Sub	28	TCTCTCTCTCTCTCTCTCTCTCTCT=1.00	TCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00	0	0	0	N/A
Other Asian	Sub	2	TCTCTCTCTCTCTCTCTCTCTCTCT=1.0	TCTCTCTCTCTCT=0.0, TCTCTCTCTCTCTCT=0.0, TCTCTCTCTCTCTCTCT=0.0, TCTCTCTCTCTCTCTCTCT=0.0, TCTCTCTCTCTCTCTCTCTCT=0.0, TCTCTCTCTCTCTCTCTCTCTCT=0.0, TCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.0, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.0, TCTCTCTCTCTCTCTCTCTCTCTCTCT=0.0, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.0, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.0, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.0, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.0	0	0	0	N/A
Latin American 1	Sub	0	TCTCTCTCTCTCTCTCTCTCTCTCT=0	TCTCTCTCTCTCT=0, TCTCTCTCTCTCTCT=0, TCTCTCTCTCTCTCTCT=0, TCTCTCTCTCTCTCTCTCT=0, TCTCTCTCTCTCTCTCTCTCT=0, TCTCTCTCTCTCTCTCTCTCTCT=0, TCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0, TCTCTCTCTCTCTCTCTCTCTCTCTCT=0, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0	0	0	0	N/A
Latin American 2	Sub	44	TCTCTCTCTCTCTCTCTCTCTCTCT=1.00	TCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00	0	0	0	N/A
South Asian	Sub	2	TCTCTCTCTCTCTCTCTCTCTCTCT=1.0	TCTCTCTCTCTCT=0.0, TCTCTCTCTCTCTCT=0.0, TCTCTCTCTCTCTCTCT=0.0, TCTCTCTCTCTCTCTCTCT=0.0, TCTCTCTCTCTCTCTCTCTCT=0.0, TCTCTCTCTCTCTCTCTCTCTCT=0.0, TCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.0, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.0, TCTCTCTCTCTCTCTCTCTCTCTCTCT=0.0, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.0, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.0, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.0, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.0	0	0	0	N/A
Other	Sub	18	TCTCTCTCTCTCTCTCTCTCTCTCT=0.56	TCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCT=0.22, TCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.22, TCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00, TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT=0.00	0.25	0.25	0.5	32

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
TopMed	Global	Study-wide	264690	- No frequency provided	dup(CT)₅=0.003075
1000Genomes	Global	Study-wide	5008	- No frequency provided	dupCTCT=0.1286
1000Genomes	African	Sub	1322	- No frequency provided	dupCTCT=0.0666
1000Genomes	East Asian	Sub	1008	- No frequency provided	dupCTCT=0.1627
1000Genomes	Europe	Sub	1006	- No frequency provided	dupCTCT=0.1372
1000Genomes	South Asian	Sub	978	- No frequency provided	dupCTCT=0.173
1000Genomes	American	Sub	694	- No frequency provided	dupCTCT=0.122
Allele Frequency Aggregator	Total	Global	4612	(TC)₁₂T=0.0787	del(CT)₆=0.0000, del(CT)₅=0.0000, del(CT)₄=0.0000, del(CT)₃=0.0063, delCTCT=0.0009, delCT=0.5007, dupCT=0.0024, dupCTCT=0.1546, dup(CT)₃=0.2565, dup(CT)₄=0.0000, dup(CT)₅=0.0000, dup(CT)₆=0.0000, dup(CT)₇=0.0000
Allele Frequency Aggregator	European	Sub	4488	(TC)₁₂T=0.0550	del(CT)₆=0.0000, del(CT)₅=0.0000, del(CT)₄=0.0000, del(CT)₃=0.0065, delCTCT=0.0009, delCT=0.5136, dupCT=0.0025, dupCTCT=0.1589, dup(CT)₃=0.2627, dup(CT)₄=0.0000, dup(CT)₅=0.0000, dup(CT)₆=0.0000, dup(CT)₇=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	44	(TC)₁₂T=1.00	del(CT)₆=0.00, del(CT)₅=0.00, del(CT)₄=0.00, del(CT)₃=0.00, delCTCT=0.00, delCT=0.00, dupCT=0.00, dupCTCT=0.00, dup(CT)₃=0.00, dup(CT)₄=0.00, dup(CT)₅=0.00, dup(CT)₆=0.00, dup(CT)₇=0.00
Allele Frequency Aggregator	African	Sub	30	(TC)₁₂T=1.00	del(CT)₆=0.00, del(CT)₅=0.00, del(CT)₄=0.00, del(CT)₃=0.00, delCTCT=0.00, delCT=0.00, dupCT=0.00, dupCTCT=0.00, dup(CT)₃=0.00, dup(CT)₄=0.00, dup(CT)₅=0.00, dup(CT)₆=0.00, dup(CT)₇=0.00
Allele Frequency Aggregator	Asian	Sub	30	(TC)₁₂T=1.00	del(CT)₆=0.00, del(CT)₅=0.00, del(CT)₄=0.00, del(CT)₃=0.00, delCTCT=0.00, delCT=0.00, dupCT=0.00, dupCTCT=0.00, dup(CT)₃=0.00, dup(CT)₄=0.00, dup(CT)₅=0.00, dup(CT)₆=0.00, dup(CT)₇=0.00
Allele Frequency Aggregator	Other	Sub	18	(TC)₁₂T=0.56	del(CT)₆=0.00, del(CT)₅=0.00, del(CT)₄=0.00, del(CT)₃=0.00, delCTCT=0.00, delCT=0.22, dupCT=0.00, dupCTCT=0.00, dup(CT)₃=0.22, dup(CT)₄=0.00, dup(CT)₅=0.00, dup(CT)₆=0.00, dup(CT)₇=0.00
Allele Frequency Aggregator	South Asian	Sub	2	(TC)₁₂T=1.0	del(CT)₆=0.0, del(CT)₅=0.0, del(CT)₄=0.0, del(CT)₃=0.0, delCTCT=0.0, delCT=0.0, dupCT=0.0, dupCTCT=0.0, dup(CT)₃=0.0, dup(CT)₄=0.0, dup(CT)₅=0.0, dup(CT)₆=0.0, dup(CT)₇=0.0
Allele Frequency Aggregator	Latin American 1	Sub	0	(TC)₁₂T=0	del(CT)₆=0, del(CT)₅=0, del(CT)₄=0, del(CT)₃=0, delCTCT=0, delCT=0, dupCT=0, dupCTCT=0, dup(CT)₃=0, dup(CT)₄=0, dup(CT)₅=0, dup(CT)₆=0, dup(CT)₇=0

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 21	NC_000021.9:g.18162413CT[6]
GRCh38.p14 chr 21	NC_000021.9:g.18162413CT[7]
GRCh38.p14 chr 21	NC_000021.9:g.18162413CT[8]
GRCh38.p14 chr 21	NC_000021.9:g.18162413CT[9]
GRCh38.p14 chr 21	NC_000021.9:g.18162413CT[10]
GRCh38.p14 chr 21	NC_000021.9:g.18162413CT[11]
GRCh38.p14 chr 21	NC_000021.9:g.18162413CT[13]
GRCh38.p14 chr 21	NC_000021.9:g.18162413CT[14]
GRCh38.p14 chr 21	NC_000021.9:g.18162413CT[15]
GRCh38.p14 chr 21	NC_000021.9:g.18162413CT[16]
GRCh38.p14 chr 21	NC_000021.9:g.18162413CT[17]
GRCh38.p14 chr 21	NC_000021.9:g.18162413CT[18]
GRCh38.p14 chr 21	NC_000021.9:g.18162413CT[19]
GRCh37.p13 chr 21	NC_000021.8:g.19534730CT[6]
GRCh37.p13 chr 21	NC_000021.8:g.19534730CT[7]
GRCh37.p13 chr 21	NC_000021.8:g.19534730CT[8]
GRCh37.p13 chr 21	NC_000021.8:g.19534730CT[9]
GRCh37.p13 chr 21	NC_000021.8:g.19534730CT[10]
GRCh37.p13 chr 21	NC_000021.8:g.19534730CT[11]
GRCh37.p13 chr 21	NC_000021.8:g.19534730CT[13]
GRCh37.p13 chr 21	NC_000021.8:g.19534730CT[14]
GRCh37.p13 chr 21	NC_000021.8:g.19534730CT[15]
GRCh37.p13 chr 21	NC_000021.8:g.19534730CT[16]
GRCh37.p13 chr 21	NC_000021.8:g.19534730CT[17]
GRCh37.p13 chr 21	NC_000021.8:g.19534730CT[18]
GRCh37.p13 chr 21	NC_000021.8:g.19534730CT[19]
CHODL RefSeqGene	NG_029478.1:g.250074CT[6]
CHODL RefSeqGene	NG_029478.1:g.250074CT[7]
CHODL RefSeqGene	NG_029478.1:g.250074CT[8]
CHODL RefSeqGene	NG_029478.1:g.250074CT[9]
CHODL RefSeqGene	NG_029478.1:g.250074CT[10]
CHODL RefSeqGene	NG_029478.1:g.250074CT[11]
CHODL RefSeqGene	NG_029478.1:g.250074CT[13]
CHODL RefSeqGene	NG_029478.1:g.250074CT[14]
CHODL RefSeqGene	NG_029478.1:g.250074CT[15]
CHODL RefSeqGene	NG_029478.1:g.250074CT[16]
CHODL RefSeqGene	NG_029478.1:g.250074CT[17]
CHODL RefSeqGene	NG_029478.1:g.250074CT[18]
CHODL RefSeqGene	NG_029478.1:g.250074CT[19]

Gene: CHODL, chondrolectin (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CHODL transcript variant 3	NM_001204175.2:c.-44-9409… NM_001204175.2:c.-44-94097TC[6]	N/A	Intron Variant
CHODL transcript variant 4	NM_001204176.2:c.-44-9409… NM_001204176.2:c.-44-94097TC[6]	N/A	Intron Variant
CHODL transcript variant 5	NM_001204177.2:c.-44-9409… NM_001204177.2:c.-44-94097TC[6]	N/A	Intron Variant
CHODL transcript variant 6	NM_001204178.2:c.-44-9409… NM_001204178.2:c.-44-94097TC[6]	N/A	Intron Variant
CHODL transcript variant 2	NM_001204174.2:c.	N/A	Genic Upstream Transcript Variant
CHODL transcript variant 1	NM_024944.3:c.	N/A	Genic Upstream Transcript Variant
CHODL transcript variant X2	XM_011529453.3:c.	N/A	Genic Upstream Transcript Variant
CHODL transcript variant X1	XM_017028273.2:c.	N/A	Genic Upstream Transcript Variant
CHODL transcript variant X3	XM_047440682.1: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	(TC)₁₂T=	del(CT)₆	del(CT)₅	del(CT)₄	del(CT)₃	delCTCT	delCT	dupCT	dupCTCT	dup(CT)₃	dup(CT)₄	dup(CT)₅	dup(CT)₆	dup(CT)₇
GRCh38.p14 chr 21	NC_000021.9:g.18162412_18162436=	NC_000021.9:g.18162413CT[6]	NC_000021.9:g.18162413CT[7]	NC_000021.9:g.18162413CT[8]	NC_000021.9:g.18162413CT[9]	NC_000021.9:g.18162413CT[10]	NC_000021.9:g.18162413CT[11]	NC_000021.9:g.18162413CT[13]	NC_000021.9:g.18162413CT[14]	NC_000021.9:g.18162413CT[15]	NC_000021.9:g.18162413CT[16]	NC_000021.9:g.18162413CT[17]	NC_000021.9:g.18162413CT[18]	NC_000021.9:g.18162413CT[19]
GRCh37.p13 chr 21	NC_000021.8:g.19534729_19534753=	NC_000021.8:g.19534730CT[6]	NC_000021.8:g.19534730CT[7]	NC_000021.8:g.19534730CT[8]	NC_000021.8:g.19534730CT[9]	NC_000021.8:g.19534730CT[10]	NC_000021.8:g.19534730CT[11]	NC_000021.8:g.19534730CT[13]	NC_000021.8:g.19534730CT[14]	NC_000021.8:g.19534730CT[15]	NC_000021.8:g.19534730CT[16]	NC_000021.8:g.19534730CT[17]	NC_000021.8:g.19534730CT[18]	NC_000021.8:g.19534730CT[19]
CHODL RefSeqGene	NG_029478.1:g.250073_250097=	NG_029478.1:g.250074CT[6]	NG_029478.1:g.250074CT[7]	NG_029478.1:g.250074CT[8]	NG_029478.1:g.250074CT[9]	NG_029478.1:g.250074CT[10]	NG_029478.1:g.250074CT[11]	NG_029478.1:g.250074CT[13]	NG_029478.1:g.250074CT[14]	NG_029478.1:g.250074CT[15]	NG_029478.1:g.250074CT[16]	NG_029478.1:g.250074CT[17]	NG_029478.1:g.250074CT[18]	NG_029478.1:g.250074CT[19]
CHODL transcript variant 3	NM_001204175.2:c.-44-94097=	NM_001204175.2:c.-44-94097TC[6]	NM_001204175.2:c.-44-94097TC[7]	NM_001204175.2:c.-44-94097TC[8]	NM_001204175.2:c.-44-94097TC[9]	NM_001204175.2:c.-44-94097TC[10]	NM_001204175.2:c.-44-94097TC[11]	NM_001204175.2:c.-44-94097TC[13]	NM_001204175.2:c.-44-94097TC[14]	NM_001204175.2:c.-44-94097TC[15]	NM_001204175.2:c.-44-94097TC[16]	NM_001204175.2:c.-44-94097TC[17]	NM_001204175.2:c.-44-94097TC[18]	NM_001204175.2:c.-44-94097TC[19]
CHODL transcript variant 4	NM_001204176.1:c.-44-94097=	NM_001204176.1:c.-44-94097TC[6]	NM_001204176.1:c.-44-94097TC[7]	NM_001204176.1:c.-44-94097TC[8]	NM_001204176.1:c.-44-94097TC[9]	NM_001204176.1:c.-44-94097TC[10]	NM_001204176.1:c.-44-94097TC[11]	NM_001204176.1:c.-44-94097TC[13]	NM_001204176.1:c.-44-94097TC[14]	NM_001204176.1:c.-44-94097TC[15]	NM_001204176.1:c.-44-94097TC[16]	NM_001204176.1:c.-44-94097TC[17]	NM_001204176.1:c.-44-94097TC[18]	NM_001204176.1:c.-44-94097TC[19]
CHODL transcript variant 4	NM_001204176.2:c.-44-94097=	NM_001204176.2:c.-44-94097TC[6]	NM_001204176.2:c.-44-94097TC[7]	NM_001204176.2:c.-44-94097TC[8]	NM_001204176.2:c.-44-94097TC[9]	NM_001204176.2:c.-44-94097TC[10]	NM_001204176.2:c.-44-94097TC[11]	NM_001204176.2:c.-44-94097TC[13]	NM_001204176.2:c.-44-94097TC[14]	NM_001204176.2:c.-44-94097TC[15]	NM_001204176.2:c.-44-94097TC[16]	NM_001204176.2:c.-44-94097TC[17]	NM_001204176.2:c.-44-94097TC[18]	NM_001204176.2:c.-44-94097TC[19]
CHODL transcript variant 5	NM_001204177.2:c.-44-94097=	NM_001204177.2:c.-44-94097TC[6]	NM_001204177.2:c.-44-94097TC[7]	NM_001204177.2:c.-44-94097TC[8]	NM_001204177.2:c.-44-94097TC[9]	NM_001204177.2:c.-44-94097TC[10]	NM_001204177.2:c.-44-94097TC[11]	NM_001204177.2:c.-44-94097TC[13]	NM_001204177.2:c.-44-94097TC[14]	NM_001204177.2:c.-44-94097TC[15]	NM_001204177.2:c.-44-94097TC[16]	NM_001204177.2:c.-44-94097TC[17]	NM_001204177.2:c.-44-94097TC[18]	NM_001204177.2:c.-44-94097TC[19]
CHODL transcript variant 6	NM_001204178.1:c.-44-94097=	NM_001204178.1:c.-44-94097TC[6]	NM_001204178.1:c.-44-94097TC[7]	NM_001204178.1:c.-44-94097TC[8]	NM_001204178.1:c.-44-94097TC[9]	NM_001204178.1:c.-44-94097TC[10]	NM_001204178.1:c.-44-94097TC[11]	NM_001204178.1:c.-44-94097TC[13]	NM_001204178.1:c.-44-94097TC[14]	NM_001204178.1:c.-44-94097TC[15]	NM_001204178.1:c.-44-94097TC[16]	NM_001204178.1:c.-44-94097TC[17]	NM_001204178.1:c.-44-94097TC[18]	NM_001204178.1:c.-44-94097TC[19]
CHODL transcript variant 6	NM_001204178.2:c.-44-94097=	NM_001204178.2:c.-44-94097TC[6]	NM_001204178.2:c.-44-94097TC[7]	NM_001204178.2:c.-44-94097TC[8]	NM_001204178.2:c.-44-94097TC[9]	NM_001204178.2:c.-44-94097TC[10]	NM_001204178.2:c.-44-94097TC[11]	NM_001204178.2:c.-44-94097TC[13]	NM_001204178.2:c.-44-94097TC[14]	NM_001204178.2:c.-44-94097TC[15]	NM_001204178.2:c.-44-94097TC[16]	NM_001204178.2:c.-44-94097TC[17]	NM_001204178.2:c.-44-94097TC[18]	NM_001204178.2:c.-44-94097TC[19]

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#.

82 SubSNP, 39 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss4309360	Mar 15, 2016 (147)
2	HGSV	ss81112833	Dec 04, 2013 (138)
3	HUMANGENOME_JCVI	ss95746383	Feb 04, 2009 (130)
4	GMI	ss289424889	May 04, 2012 (137)
5	GMI	ss289424890	May 04, 2012 (137)
6	1000GENOMES	ss328308059	Jan 10, 2018 (151)
7	LUNTER	ss552682445	Jan 10, 2018 (151)
8	LUNTER	ss553094043	Jan 10, 2018 (151)
9	LUNTER	ss553687910	Apr 25, 2013 (138)
10	TISHKOFF	ss555006738	Apr 25, 2013 (138)
11	SSMP	ss664495375	Apr 01, 2015 (144)
12	BILGI_BIOE	ss666756343	Apr 25, 2013 (138)
13	1000GENOMES	ss1378674919	Aug 21, 2014 (142)
14	HAMMER_LAB	ss1809611685	Sep 08, 2015 (146)
15	HAMMER_LAB	ss1809611686	Jan 10, 2018 (151)
16	SYSTEMSBIOZJU	ss2629508834	Nov 08, 2017 (151)
17	SWEGEN	ss3018652209	Nov 08, 2017 (151)
18	MCHAISSO	ss3064867275	Nov 08, 2017 (151)
19	MCHAISSO	ss3065832983	Jan 10, 2018 (151)
20	URBANLAB	ss3651081104	Oct 12, 2018 (152)
21	URBANLAB	ss3651081105	Oct 12, 2018 (152)
22	URBANLAB	ss3651081106	Oct 12, 2018 (152)
23	PACBIO	ss3788719268	Jul 13, 2019 (153)
24	PACBIO	ss3793599115	Jul 13, 2019 (153)
25	PACBIO	ss3798485232	Jul 13, 2019 (153)
26	KHV_HUMAN_GENOMES	ss3822086567	Jul 13, 2019 (153)
27	KHV_HUMAN_GENOMES	ss3822086568	Jul 13, 2019 (153)
28	KHV_HUMAN_GENOMES	ss3822086569	Jul 13, 2019 (153)
29	KHV_HUMAN_GENOMES	ss3822086570	Jul 13, 2019 (153)
30	KHV_HUMAN_GENOMES	ss3822086571	Jul 13, 2019 (153)
31	KHV_HUMAN_GENOMES	ss3822086572	Jul 13, 2019 (153)
32	KHV_HUMAN_GENOMES	ss3822086573	Jul 13, 2019 (153)
33	EVA	ss3835790794	Apr 27, 2020 (154)
34	EVA	ss3841522010	Apr 27, 2020 (154)
35	EVA	ss3847035128	Apr 27, 2020 (154)
36	KOGIC	ss3982829491	Apr 27, 2020 (154)
37	KOGIC	ss3982829492	Apr 27, 2020 (154)
38	KOGIC	ss3982829493	Apr 27, 2020 (154)
39	KOGIC	ss3982829494	Apr 27, 2020 (154)
40	KOGIC	ss3982829495	Apr 27, 2020 (154)
41	KOGIC	ss3982829496	Apr 27, 2020 (154)
42	GNOMAD	ss4357856555	Apr 27, 2021 (155)
43	GNOMAD	ss4357856556	Apr 27, 2021 (155)
44	GNOMAD	ss4357856557	Apr 27, 2021 (155)
45	GNOMAD	ss4357856558	Apr 27, 2021 (155)
46	GNOMAD	ss4357856559	Apr 27, 2021 (155)
47	GNOMAD	ss4357856560	Apr 27, 2021 (155)
48	GNOMAD	ss4357856561	Apr 27, 2021 (155)
49	GNOMAD	ss4357856564	Apr 27, 2021 (155)
50	GNOMAD	ss4357856565	Apr 27, 2021 (155)
51	GNOMAD	ss4357856566	Apr 27, 2021 (155)
52	GNOMAD	ss4357856567	Apr 27, 2021 (155)
53	GNOMAD	ss4357856568	Apr 27, 2021 (155)
54	GNOMAD	ss4357856569	Apr 27, 2021 (155)
55	TOPMED	ss5096542990	Apr 27, 2021 (155)
56	TOMMO_GENOMICS	ss5230881977	Apr 27, 2021 (155)
57	TOMMO_GENOMICS	ss5230881978	Apr 27, 2021 (155)
58	TOMMO_GENOMICS	ss5230881979	Apr 27, 2021 (155)
59	TOMMO_GENOMICS	ss5230881980	Apr 27, 2021 (155)
60	TOMMO_GENOMICS	ss5230881981	Apr 27, 2021 (155)
61	TOMMO_GENOMICS	ss5230881982	Apr 27, 2021 (155)
62	1000G_HIGH_COVERAGE	ss5309702251	Oct 16, 2022 (156)
63	1000G_HIGH_COVERAGE	ss5309702252	Oct 16, 2022 (156)
64	1000G_HIGH_COVERAGE	ss5309702253	Oct 16, 2022 (156)
65	1000G_HIGH_COVERAGE	ss5309702254	Oct 16, 2022 (156)
66	1000G_HIGH_COVERAGE	ss5309702255	Oct 16, 2022 (156)
67	1000G_HIGH_COVERAGE	ss5309702256	Oct 16, 2022 (156)
68	HUGCELL_USP	ss5501794628	Oct 16, 2022 (156)
69	HUGCELL_USP	ss5501794629	Oct 16, 2022 (156)
70	HUGCELL_USP	ss5501794630	Oct 16, 2022 (156)
71	HUGCELL_USP	ss5501794631	Oct 16, 2022 (156)
72	HUGCELL_USP	ss5501794632	Oct 16, 2022 (156)
73	TOMMO_GENOMICS	ss5791216648	Oct 16, 2022 (156)
74	TOMMO_GENOMICS	ss5791216649	Oct 16, 2022 (156)
75	TOMMO_GENOMICS	ss5791216650	Oct 16, 2022 (156)
76	TOMMO_GENOMICS	ss5791216651	Oct 16, 2022 (156)
77	TOMMO_GENOMICS	ss5791216652	Oct 16, 2022 (156)
78	TOMMO_GENOMICS	ss5791216653	Oct 16, 2022 (156)
79	EVA	ss5838837729	Oct 16, 2022 (156)
80	EVA	ss5838837730	Oct 16, 2022 (156)
81	EVA	ss5838837731	Oct 16, 2022 (156)
82	EVA	ss5981106457	Oct 16, 2022 (156)
83	1000Genomes	NC_000021.8 - 19534729	Oct 12, 2018 (152)
84	gnomAD - Genomes Submission ignored due to conflicting rows: Row 559064824 (NC_000021.9:18162411::TC 5244/136170) Row 559064825 (NC_000021.9:18162411::TCTC 14971/136084) Row 559064826 (NC_000021.9:18162411::TCTCTC 33618/135954)...	-	Apr 27, 2021 (155)
85	gnomAD - Genomes Submission ignored due to conflicting rows: Row 559064824 (NC_000021.9:18162411::TC 5244/136170) Row 559064825 (NC_000021.9:18162411::TCTC 14971/136084) Row 559064826 (NC_000021.9:18162411::TCTCTC 33618/135954)...	-	Apr 27, 2021 (155)
86	gnomAD - Genomes Submission ignored due to conflicting rows: Row 559064824 (NC_000021.9:18162411::TC 5244/136170) Row 559064825 (NC_000021.9:18162411::TCTC 14971/136084) Row 559064826 (NC_000021.9:18162411::TCTCTC 33618/135954)...	-	Apr 27, 2021 (155)
87	gnomAD - Genomes Submission ignored due to conflicting rows: Row 559064824 (NC_000021.9:18162411::TC 5244/136170) Row 559064825 (NC_000021.9:18162411::TCTC 14971/136084) Row 559064826 (NC_000021.9:18162411::TCTCTC 33618/135954)...	-	Apr 27, 2021 (155)
88	gnomAD - Genomes Submission ignored due to conflicting rows: Row 559064824 (NC_000021.9:18162411::TC 5244/136170) Row 559064825 (NC_000021.9:18162411::TCTC 14971/136084) Row 559064826 (NC_000021.9:18162411::TCTCTC 33618/135954)...	-	Apr 27, 2021 (155)
89	gnomAD - Genomes Submission ignored due to conflicting rows: Row 559064824 (NC_000021.9:18162411::TC 5244/136170) Row 559064825 (NC_000021.9:18162411::TCTC 14971/136084) Row 559064826 (NC_000021.9:18162411::TCTCTC 33618/135954)...	-	Apr 27, 2021 (155)
90	gnomAD - Genomes Submission ignored due to conflicting rows: Row 559064824 (NC_000021.9:18162411::TC 5244/136170) Row 559064825 (NC_000021.9:18162411::TCTC 14971/136084) Row 559064826 (NC_000021.9:18162411::TCTCTC 33618/135954)...	-	Apr 27, 2021 (155)
91	gnomAD - Genomes Submission ignored due to conflicting rows: Row 559064824 (NC_000021.9:18162411::TC 5244/136170) Row 559064825 (NC_000021.9:18162411::TCTC 14971/136084) Row 559064826 (NC_000021.9:18162411::TCTCTC 33618/135954)...	-	Apr 27, 2021 (155)
92	gnomAD - Genomes Submission ignored due to conflicting rows: Row 559064824 (NC_000021.9:18162411::TC 5244/136170) Row 559064825 (NC_000021.9:18162411::TCTC 14971/136084) Row 559064826 (NC_000021.9:18162411::TCTCTC 33618/135954)...	-	Apr 27, 2021 (155)
93	gnomAD - Genomes Submission ignored due to conflicting rows: Row 559064824 (NC_000021.9:18162411::TC 5244/136170) Row 559064825 (NC_000021.9:18162411::TCTC 14971/136084) Row 559064826 (NC_000021.9:18162411::TCTCTC 33618/135954)...	-	Apr 27, 2021 (155)
94	gnomAD - Genomes Submission ignored due to conflicting rows: Row 559064824 (NC_000021.9:18162411::TC 5244/136170) Row 559064825 (NC_000021.9:18162411::TCTC 14971/136084) Row 559064826 (NC_000021.9:18162411::TCTCTC 33618/135954)...	-	Apr 27, 2021 (155)
95	gnomAD - Genomes Submission ignored due to conflicting rows: Row 559064824 (NC_000021.9:18162411::TC 5244/136170) Row 559064825 (NC_000021.9:18162411::TCTC 14971/136084) Row 559064826 (NC_000021.9:18162411::TCTCTC 33618/135954)...	-	Apr 27, 2021 (155)
96	gnomAD - Genomes Submission ignored due to conflicting rows: Row 559064824 (NC_000021.9:18162411::TC 5244/136170) Row 559064825 (NC_000021.9:18162411::TCTC 14971/136084) Row 559064826 (NC_000021.9:18162411::TCTCTC 33618/135954)...	-	Apr 27, 2021 (155)
97	Korean Genome Project Submission ignored due to conflicting rows: Row 39207492 (NC_000021.9:18162411:TCTCTC: 92/1832) Row 39207493 (NC_000021.9:18162415:TC: 300/1832) Row 39207494 (NC_000021.9:18162417::TCTC 258/1832)...	-	Apr 27, 2020 (154)
98	Korean Genome Project Submission ignored due to conflicting rows: Row 39207492 (NC_000021.9:18162411:TCTCTC: 92/1832) Row 39207493 (NC_000021.9:18162415:TC: 300/1832) Row 39207494 (NC_000021.9:18162417::TCTC 258/1832)...	-	Apr 27, 2020 (154)
99	Korean Genome Project Submission ignored due to conflicting rows: Row 39207492 (NC_000021.9:18162411:TCTCTC: 92/1832) Row 39207493 (NC_000021.9:18162415:TC: 300/1832) Row 39207494 (NC_000021.9:18162417::TCTC 258/1832)...	-	Apr 27, 2020 (154)
100	Korean Genome Project Submission ignored due to conflicting rows: Row 39207492 (NC_000021.9:18162411:TCTCTC: 92/1832) Row 39207493 (NC_000021.9:18162415:TC: 300/1832) Row 39207494 (NC_000021.9:18162417::TCTC 258/1832)...	-	Apr 27, 2020 (154)
101	Korean Genome Project Submission ignored due to conflicting rows: Row 39207492 (NC_000021.9:18162411:TCTCTC: 92/1832) Row 39207493 (NC_000021.9:18162415:TC: 300/1832) Row 39207494 (NC_000021.9:18162417::TCTC 258/1832)...	-	Apr 27, 2020 (154)
102	Korean Genome Project Submission ignored due to conflicting rows: Row 39207492 (NC_000021.9:18162411:TCTCTC: 92/1832) Row 39207493 (NC_000021.9:18162415:TC: 300/1832) Row 39207494 (NC_000021.9:18162417::TCTC 258/1832)...	-	Apr 27, 2020 (154)
103	8.3KJPN Submission ignored due to conflicting rows: Row 88851284 (NC_000021.8:19534728::TCTCTC 2352/16760) Row 88851285 (NC_000021.8:19534728::TCTC 2413/16760) Row 88851286 (NC_000021.8:19534728:TC: 2056/16760)...	-	Apr 27, 2021 (155)
104	8.3KJPN Submission ignored due to conflicting rows: Row 88851284 (NC_000021.8:19534728::TCTCTC 2352/16760) Row 88851285 (NC_000021.8:19534728::TCTC 2413/16760) Row 88851286 (NC_000021.8:19534728:TC: 2056/16760)...	-	Apr 27, 2021 (155)
105	8.3KJPN Submission ignored due to conflicting rows: Row 88851284 (NC_000021.8:19534728::TCTCTC 2352/16760) Row 88851285 (NC_000021.8:19534728::TCTC 2413/16760) Row 88851286 (NC_000021.8:19534728:TC: 2056/16760)...	-	Apr 27, 2021 (155)
106	8.3KJPN Submission ignored due to conflicting rows: Row 88851284 (NC_000021.8:19534728::TCTCTC 2352/16760) Row 88851285 (NC_000021.8:19534728::TCTC 2413/16760) Row 88851286 (NC_000021.8:19534728:TC: 2056/16760)...	-	Apr 27, 2021 (155)
107	8.3KJPN Submission ignored due to conflicting rows: Row 88851284 (NC_000021.8:19534728::TCTCTC 2352/16760) Row 88851285 (NC_000021.8:19534728::TCTC 2413/16760) Row 88851286 (NC_000021.8:19534728:TC: 2056/16760)...	-	Apr 27, 2021 (155)
108	8.3KJPN Submission ignored due to conflicting rows: Row 88851284 (NC_000021.8:19534728::TCTCTC 2352/16760) Row 88851285 (NC_000021.8:19534728::TCTC 2413/16760) Row 88851286 (NC_000021.8:19534728:TC: 2056/16760)...	-	Apr 27, 2021 (155)
109	14KJPN Submission ignored due to conflicting rows: Row 125053752 (NC_000021.9:18162411::TCTCTCTC 169/28258) Row 125053753 (NC_000021.9:18162411::TCTC 4063/28258) Row 125053754 (NC_000021.9:18162411:TC: 3536/28258)...	-	Oct 16, 2022 (156)
110	14KJPN Submission ignored due to conflicting rows: Row 125053752 (NC_000021.9:18162411::TCTCTCTC 169/28258) Row 125053753 (NC_000021.9:18162411::TCTC 4063/28258) Row 125053754 (NC_000021.9:18162411:TC: 3536/28258)...	-	Oct 16, 2022 (156)
111	14KJPN Submission ignored due to conflicting rows: Row 125053752 (NC_000021.9:18162411::TCTCTCTC 169/28258) Row 125053753 (NC_000021.9:18162411::TCTC 4063/28258) Row 125053754 (NC_000021.9:18162411:TC: 3536/28258)...	-	Oct 16, 2022 (156)
112	14KJPN Submission ignored due to conflicting rows: Row 125053752 (NC_000021.9:18162411::TCTCTCTC 169/28258) Row 125053753 (NC_000021.9:18162411::TCTC 4063/28258) Row 125053754 (NC_000021.9:18162411:TC: 3536/28258)...	-	Oct 16, 2022 (156)
113	14KJPN Submission ignored due to conflicting rows: Row 125053752 (NC_000021.9:18162411::TCTCTCTC 169/28258) Row 125053753 (NC_000021.9:18162411::TCTC 4063/28258) Row 125053754 (NC_000021.9:18162411:TC: 3536/28258)...	-	Oct 16, 2022 (156)
114	14KJPN Submission ignored due to conflicting rows: Row 125053752 (NC_000021.9:18162411::TCTCTCTC 169/28258) Row 125053753 (NC_000021.9:18162411::TCTC 4063/28258) Row 125053754 (NC_000021.9:18162411:TC: 3536/28258)...	-	Oct 16, 2022 (156)
115	TopMed	NC_000021.9 - 18162412	Apr 27, 2021 (155)
116	A Vietnamese Genetic Variation Database Submission ignored due to conflicting rows: Row 9664495 (NC_000021.8:19534728:TC: 36/129) Row 9664496 (NC_000021.8:19534728::TCTCTC 29/122) Row 9664497 (NC_000021.8:19534728:TCTCTCTCTC: 1/94)...	-	Jul 13, 2019 (153)
117	A Vietnamese Genetic Variation Database Submission ignored due to conflicting rows: Row 9664495 (NC_000021.8:19534728:TC: 36/129) Row 9664496 (NC_000021.8:19534728::TCTCTC 29/122) Row 9664497 (NC_000021.8:19534728:TCTCTCTCTC: 1/94)...	-	Jul 13, 2019 (153)
118	A Vietnamese Genetic Variation Database Submission ignored due to conflicting rows: Row 9664495 (NC_000021.8:19534728:TC: 36/129) Row 9664496 (NC_000021.8:19534728::TCTCTC 29/122) Row 9664497 (NC_000021.8:19534728:TCTCTCTCTC: 1/94)...	-	Jul 13, 2019 (153)
119	A Vietnamese Genetic Variation Database Submission ignored due to conflicting rows: Row 9664495 (NC_000021.8:19534728:TC: 36/129) Row 9664496 (NC_000021.8:19534728::TCTCTC 29/122) Row 9664497 (NC_000021.8:19534728:TCTCTCTCTC: 1/94)...	-	Jul 13, 2019 (153)
120	A Vietnamese Genetic Variation Database Submission ignored due to conflicting rows: Row 9664495 (NC_000021.8:19534728:TC: 36/129) Row 9664496 (NC_000021.8:19534728::TCTCTC 29/122) Row 9664497 (NC_000021.8:19534728:TCTCTCTCTC: 1/94)...	-	Jul 13, 2019 (153)
121	ALFA	NC_000021.9 - 18162412	Apr 27, 2021 (155)

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

Associated ID	History Updated (Build)
rs796257999	Nov 08, 2017 (151)
rs140695169	Jul 30, 2012 (137)
rs144711364	May 15, 2013 (138)
rs372933129	May 13, 2013 (138)
rs796807886	Nov 08, 2017 (151)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4357856569	NC_000021.9:18162411:TCTCTCTCTCTC:	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCT	(self)
15138000399	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCT	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCT	(self)
	NC_000021.8:19534728:TCTCTCTCTC:	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCT	(self)
ss3822086568, ss4357856568	NC_000021.9:18162411:TCTCTCTCTC:	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCT	(self)
15138000399	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCT	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCT	(self)
ss4357856567	NC_000021.9:18162411:TCTCTCTC:	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCT	(self)
15138000399	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCT	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCT	(self)
ss289424889	NC_000021.7:18456599:TCTCTC:	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCT	(self)
ss3018652209, ss5230881981	NC_000021.8:19534728:TCTCTC:	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCT	(self)
ss3982829491, ss4357856566, ss5309702255, ss5501794632, ss5791216651	NC_000021.9:18162411:TCTCTC:	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCT	(self)
15138000399	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCT	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCT	(self)
ss3822086571	NC_000021.9:18162415:TCTCTC:	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCT	(self)
ss4357856565	NC_000021.9:18162411:TCTC:	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCT	(self)
15138000399	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCT	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCT	(self)
ss328308059, ss552682445, ss553094043	NC_000021.7:18456599:TC:	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCT	(self)
ss1809611686, ss3788719268, ss3793599115, ss3798485232, ss3841522010, ss5230881979, ss5838837729, ss5981106457	NC_000021.8:19534728:TC:	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCT	(self)
ss555006738	NC_000021.8:19534751:CT:	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCT	(self)
ss3065832983, ss3651081104, ss3847035128, ss4357856564, ss5309702251, ss5501794628, ss5791216650	NC_000021.9:18162411:TC:	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCT	(self)
15138000399	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCT	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCT	(self)
ss3982829492	NC_000021.9:18162415:TC:	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCT	(self)
ss3822086573	NC_000021.9:18162419:TC:	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCT	(self)
ss3651081105	NC_000021.9:18162432:CT:	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCT	(self)
ss4309360	NT_011512.11:5196622:CT:	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCT	(self)
ss1809611685, ss5230881980	NC_000021.8:19534728::TC	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCT	(self)
ss4357856555, ss5309702253, ss5501794629, ss5791216653	NC_000021.9:18162411::TC	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCT	(self)
15138000399	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCT	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCT	(self)
ss3982829495	NC_000021.9:18162417::TC	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCT	(self)
ss3822086570	NC_000021.9:18162421::TC	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCT	(self)
ss553687910	NC_000021.7:18456599::TCTC	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT	(self)
79198044, ss664495375, ss1378674919, ss2629508834, ss3835790794, ss5230881978, ss5838837730	NC_000021.8:19534728::TCTC	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT	(self)
ss3064867275, ss3822086567, ss4357856556, ss5309702254, ss5501794630, ss5791216649	NC_000021.9:18162411::TCTC	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT	(self)
15138000399	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT	(self)
ss3982829493	NC_000021.9:18162417::TCTC	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT	(self)
ss3822086569	NC_000021.9:18162421::TCTC	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT	(self)
ss81112833	NT_011512.11:5196624::CTCT	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCT	(self)
ss289424890	NC_000021.7:18456624::CTCTCT	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	(self)
ss666756343, ss5230881977, ss5838837731	NC_000021.8:19534728::TCTCTC	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	(self)
ss4357856557, ss5309702252, ss5501794631, ss5791216652	NC_000021.9:18162411::TCTCTC	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	(self)
15138000399	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	(self)
ss3982829494	NC_000021.9:18162417::TCTCTC	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	(self)
ss3822086572	NC_000021.9:18162421::TCTCTC	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	(self)
ss3651081106	NC_000021.9:18162435::TCTCTC	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	(self)
ss95746383	NT_011512.11:5196624::CTCTCT	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	(self)
ss5230881982	NC_000021.8:19534728::TCTCTCTC	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	(self)
ss4357856558, ss5309702256, ss5791216648	NC_000021.9:18162411::TCTCTCTC	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	(self)
15138000399	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	(self)
371651936, ss4357856559, ss5096542990	NC_000021.9:18162411::TCTCTCTCTC	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	(self)
15138000399	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	(self)
ss3982829496	NC_000021.9:18162417::TCTCTCTCTC	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	(self)
ss4357856560	NC_000021.9:18162411::TCTCTCTCTCTC	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	(self)
15138000399	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	(self)
ss4357856561	NC_000021.9:18162411::TCTCTCTCTCTC… NC_000021.9:18162411::TCTCTCTCTCTCTC	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	(self)
15138000399	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	NC_000021.9:18162411:TCTCTCTCTCTCT… NC_000021.9:18162411:TCTCTCTCTCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT	(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 rs58978469

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).
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs58978469