Name: rs59320118
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.

rs59320118

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr20:44721512-44721537 (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)₁₆ / del(A)₁₄ / del(A)₁₃ / d…
del(A)₁₆ / del(A)₁₄ / del(A)₁₃ / del(A)₁₁ / del(A)₁₀ / del(A)₉ / del(A)₈ / del(A)₇ / del(A)₆ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dup(A)₂₆
Variation Type: Indel Insertion and Deletion
Frequency: (A)₂₆=0.2893 (1449/5008, 1000G)
del(A)₁₆=0.000 (0/132, ALFA)
del(A)₁₄=0.000 (0/132, ALFA) (+ 14 more)
del(A)₁₃=0.000 (0/132, ALFA)
del(A)₁₁=0.000 (0/132, ALFA)
del(A)₁₀=0.000 (0/132, ALFA)
del(A)₉=0.000 (0/132, ALFA)
del(A)₈=0.000 (0/132, ALFA)
del(A)₇=0.000 (0/132, ALFA)
del(A)₆=0.000 (0/132, ALFA)
del(A)₅=0.000 (0/132, ALFA)
del(A)₄=0.000 (0/132, ALFA)
delAAA=0.000 (0/132, ALFA)
delAA=0.000 (0/132, ALFA)
delA=0.000 (0/132, ALFA)
dupA=0.000 (0/132, ALFA)
dupAA=0.000 (0/132, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CCN5 : Intron Variant
KCNK15-AS1 : 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	132	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
European	Sub	18	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African	Sub	112	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	6	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
African American	Sub	106	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
East Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 1	Sub	2	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 2	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
South Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
1000Genomes	Global	Study-wide	5008	(A)₂₆=0.2893	delAA=0.7107
1000Genomes	African	Sub	1322	(A)₂₆=0.3843	delAA=0.6157
1000Genomes	East Asian	Sub	1008	(A)₂₆=0.2093	delAA=0.7907
1000Genomes	Europe	Sub	1006	(A)₂₆=0.3310	delAA=0.6690
1000Genomes	South Asian	Sub	978	(A)₂₆=0.235	delAA=0.765
1000Genomes	American	Sub	694	(A)₂₆=0.241	delAA=0.759
Allele Frequency Aggregator	Total	Global	132	(A)₂₆=1.000	del(A)₁₆=0.000, del(A)₁₄=0.000, del(A)₁₃=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator	African	Sub	112	(A)₂₆=1.000	del(A)₁₆=0.000, del(A)₁₄=0.000, del(A)₁₃=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator	European	Sub	18	(A)₂₆=1.00	del(A)₁₆=0.00, del(A)₁₄=0.00, del(A)₁₃=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator	Latin American 1	Sub	2	(A)₂₆=1.0	del(A)₁₆=0.0, del(A)₁₄=0.0, del(A)₁₃=0.0, del(A)₁₁=0.0, del(A)₁₀=0.0, del(A)₉=0.0, del(A)₈=0.0, del(A)₇=0.0, del(A)₆=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0
Allele Frequency Aggregator	Latin American 2	Sub	0	(A)₂₆=0	del(A)₁₆=0, del(A)₁₄=0, del(A)₁₃=0, del(A)₁₁=0, del(A)₁₀=0, del(A)₉=0, del(A)₈=0, del(A)₇=0, del(A)₆=0, del(A)₅=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0
Allele Frequency Aggregator	South Asian	Sub	0	(A)₂₆=0	del(A)₁₆=0, del(A)₁₄=0, del(A)₁₃=0, del(A)₁₁=0, del(A)₁₀=0, del(A)₉=0, del(A)₈=0, del(A)₇=0, del(A)₆=0, del(A)₅=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0
Allele Frequency Aggregator	Other	Sub	0	(A)₂₆=0	del(A)₁₆=0, del(A)₁₄=0, del(A)₁₃=0, del(A)₁₁=0, del(A)₁₀=0, del(A)₉=0, del(A)₈=0, del(A)₇=0, del(A)₆=0, del(A)₅=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0
Allele Frequency Aggregator	Asian	Sub	0	(A)₂₆=0	del(A)₁₆=0, del(A)₁₄=0, del(A)₁₃=0, del(A)₁₁=0, del(A)₁₀=0, del(A)₉=0, del(A)₈=0, del(A)₇=0, del(A)₆=0, del(A)₅=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=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 20	NC_000020.11:g.44721522_44721537del
GRCh38.p14 chr 20	NC_000020.11:g.44721524_44721537del
GRCh38.p14 chr 20	NC_000020.11:g.44721525_44721537del
GRCh38.p14 chr 20	NC_000020.11:g.44721527_44721537del
GRCh38.p14 chr 20	NC_000020.11:g.44721528_44721537del
GRCh38.p14 chr 20	NC_000020.11:g.44721529_44721537del
GRCh38.p14 chr 20	NC_000020.11:g.44721530_44721537del
GRCh38.p14 chr 20	NC_000020.11:g.44721531_44721537del
GRCh38.p14 chr 20	NC_000020.11:g.44721532_44721537del
GRCh38.p14 chr 20	NC_000020.11:g.44721533_44721537del
GRCh38.p14 chr 20	NC_000020.11:g.44721534_44721537del
GRCh38.p14 chr 20	NC_000020.11:g.44721535_44721537del
GRCh38.p14 chr 20	NC_000020.11:g.44721536_44721537del
GRCh38.p14 chr 20	NC_000020.11:g.44721537del
GRCh38.p14 chr 20	NC_000020.11:g.44721537dup
GRCh38.p14 chr 20	NC_000020.11:g.44721536_44721537dup
GRCh38.p14 chr 20	NC_000020.11:g.44721512_44721537dup
GRCh37.p13 chr 20	NC_000020.10:g.43350163_43350178del
GRCh37.p13 chr 20	NC_000020.10:g.43350165_43350178del
GRCh37.p13 chr 20	NC_000020.10:g.43350166_43350178del
GRCh37.p13 chr 20	NC_000020.10:g.43350168_43350178del
GRCh37.p13 chr 20	NC_000020.10:g.43350169_43350178del
GRCh37.p13 chr 20	NC_000020.10:g.43350170_43350178del
GRCh37.p13 chr 20	NC_000020.10:g.43350171_43350178del
GRCh37.p13 chr 20	NC_000020.10:g.43350172_43350178del
GRCh37.p13 chr 20	NC_000020.10:g.43350173_43350178del
GRCh37.p13 chr 20	NC_000020.10:g.43350174_43350178del
GRCh37.p13 chr 20	NC_000020.10:g.43350175_43350178del
GRCh37.p13 chr 20	NC_000020.10:g.43350176_43350178del
GRCh37.p13 chr 20	NC_000020.10:g.43350177_43350178del
GRCh37.p13 chr 20	NC_000020.10:g.43350178del
GRCh37.p13 chr 20	NC_000020.10:g.43350178dup
GRCh37.p13 chr 20	NC_000020.10:g.43350177_43350178dup
GRCh37.p13 chr 20	NC_000020.10:g.43350153_43350178dup

Gene: CCN5, cellular communication network factor 5 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CCN5 transcript variant 2	NM_001323369.2:c.285+1401… NM_001323369.2:c.285+1401_285+1416del	N/A	Intron Variant
CCN5 transcript variant 1	NM_001323370.2:c.277+1409… NM_001323370.2:c.277+1409_277+1424del	N/A	Intron Variant
CCN5 transcript variant 3	NM_003881.4:c.277+1409_27… NM_003881.4:c.277+1409_277+1424del	N/A	Intron Variant
CCN5 transcript variant X1	XM_047440578.1:c.277+1409… XM_047440578.1:c.277+1409_277+1424del	N/A	Intron Variant
CCN5 transcript variant X2	XM_047440579.1:c.277+1409… XM_047440579.1:c.277+1409_277+1424del	N/A	Intron Variant

Gene: KCNK15-AS1, KCNK15 and WISP2 antisense RNA 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
KCNK15-AS1 transcript	NR_132377.1:n.	N/A	Intron Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	(A)₂₆=	del(A)₁₆	del(A)₁₄	del(A)₁₃	del(A)₁₁	del(A)₁₀	del(A)₉	del(A)₈	del(A)₇	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dup(A)₂₆
GRCh38.p14 chr 20	NC_000020.11:g.44721512_44721537=	NC_000020.11:g.44721522_44721537del	NC_000020.11:g.44721524_44721537del	NC_000020.11:g.44721525_44721537del	NC_000020.11:g.44721527_44721537del	NC_000020.11:g.44721528_44721537del	NC_000020.11:g.44721529_44721537del	NC_000020.11:g.44721530_44721537del	NC_000020.11:g.44721531_44721537del	NC_000020.11:g.44721532_44721537del	NC_000020.11:g.44721533_44721537del	NC_000020.11:g.44721534_44721537del	NC_000020.11:g.44721535_44721537del	NC_000020.11:g.44721536_44721537del	NC_000020.11:g.44721537del	NC_000020.11:g.44721537dup	NC_000020.11:g.44721536_44721537dup	NC_000020.11:g.44721512_44721537dup
GRCh37.p13 chr 20	NC_000020.10:g.43350153_43350178=	NC_000020.10:g.43350163_43350178del	NC_000020.10:g.43350165_43350178del	NC_000020.10:g.43350166_43350178del	NC_000020.10:g.43350168_43350178del	NC_000020.10:g.43350169_43350178del	NC_000020.10:g.43350170_43350178del	NC_000020.10:g.43350171_43350178del	NC_000020.10:g.43350172_43350178del	NC_000020.10:g.43350173_43350178del	NC_000020.10:g.43350174_43350178del	NC_000020.10:g.43350175_43350178del	NC_000020.10:g.43350176_43350178del	NC_000020.10:g.43350177_43350178del	NC_000020.10:g.43350178del	NC_000020.10:g.43350178dup	NC_000020.10:g.43350177_43350178dup	NC_000020.10:g.43350153_43350178dup
CCN5 transcript variant 2	NM_001323369.2:c.285+1391=	NM_001323369.2:c.285+1401_285+1416del	NM_001323369.2:c.285+1403_285+1416del	NM_001323369.2:c.285+1404_285+1416del	NM_001323369.2:c.285+1406_285+1416del	NM_001323369.2:c.285+1407_285+1416del	NM_001323369.2:c.285+1408_285+1416del	NM_001323369.2:c.285+1409_285+1416del	NM_001323369.2:c.285+1410_285+1416del	NM_001323369.2:c.285+1411_285+1416del	NM_001323369.2:c.285+1412_285+1416del	NM_001323369.2:c.285+1413_285+1416del	NM_001323369.2:c.285+1414_285+1416del	NM_001323369.2:c.285+1415_285+1416del	NM_001323369.2:c.285+1416del	NM_001323369.2:c.285+1416dup	NM_001323369.2:c.285+1415_285+1416dup	NM_001323369.2:c.285+1391_285+1416dup
CCN5 transcript variant 1	NM_001323370.2:c.277+1399=	NM_001323370.2:c.277+1409_277+1424del	NM_001323370.2:c.277+1411_277+1424del	NM_001323370.2:c.277+1412_277+1424del	NM_001323370.2:c.277+1414_277+1424del	NM_001323370.2:c.277+1415_277+1424del	NM_001323370.2:c.277+1416_277+1424del	NM_001323370.2:c.277+1417_277+1424del	NM_001323370.2:c.277+1418_277+1424del	NM_001323370.2:c.277+1419_277+1424del	NM_001323370.2:c.277+1420_277+1424del	NM_001323370.2:c.277+1421_277+1424del	NM_001323370.2:c.277+1422_277+1424del	NM_001323370.2:c.277+1423_277+1424del	NM_001323370.2:c.277+1424del	NM_001323370.2:c.277+1424dup	NM_001323370.2:c.277+1423_277+1424dup	NM_001323370.2:c.277+1399_277+1424dup
WISP2 transcript	NM_003881.2:c.277+1399=	NM_003881.2:c.277+1409_277+1424del	NM_003881.2:c.277+1411_277+1424del	NM_003881.2:c.277+1412_277+1424del	NM_003881.2:c.277+1414_277+1424del	NM_003881.2:c.277+1415_277+1424del	NM_003881.2:c.277+1416_277+1424del	NM_003881.2:c.277+1417_277+1424del	NM_003881.2:c.277+1418_277+1424del	NM_003881.2:c.277+1419_277+1424del	NM_003881.2:c.277+1420_277+1424del	NM_003881.2:c.277+1421_277+1424del	NM_003881.2:c.277+1422_277+1424del	NM_003881.2:c.277+1423_277+1424del	NM_003881.2:c.277+1424del	NM_003881.2:c.277+1424dup	NM_003881.2:c.277+1423_277+1424dup	NM_003881.2:c.277+1399_277+1424dup
CCN5 transcript variant 3	NM_003881.4:c.277+1399=	NM_003881.4:c.277+1409_277+1424del	NM_003881.4:c.277+1411_277+1424del	NM_003881.4:c.277+1412_277+1424del	NM_003881.4:c.277+1414_277+1424del	NM_003881.4:c.277+1415_277+1424del	NM_003881.4:c.277+1416_277+1424del	NM_003881.4:c.277+1417_277+1424del	NM_003881.4:c.277+1418_277+1424del	NM_003881.4:c.277+1419_277+1424del	NM_003881.4:c.277+1420_277+1424del	NM_003881.4:c.277+1421_277+1424del	NM_003881.4:c.277+1422_277+1424del	NM_003881.4:c.277+1423_277+1424del	NM_003881.4:c.277+1424del	NM_003881.4:c.277+1424dup	NM_003881.4:c.277+1423_277+1424dup	NM_003881.4:c.277+1399_277+1424dup
WISP2 transcript variant X1	XM_005260603.1:c.277+1399=	XM_005260603.1:c.277+1409_277+1424del	XM_005260603.1:c.277+1411_277+1424del	XM_005260603.1:c.277+1412_277+1424del	XM_005260603.1:c.277+1414_277+1424del	XM_005260603.1:c.277+1415_277+1424del	XM_005260603.1:c.277+1416_277+1424del	XM_005260603.1:c.277+1417_277+1424del	XM_005260603.1:c.277+1418_277+1424del	XM_005260603.1:c.277+1419_277+1424del	XM_005260603.1:c.277+1420_277+1424del	XM_005260603.1:c.277+1421_277+1424del	XM_005260603.1:c.277+1422_277+1424del	XM_005260603.1:c.277+1423_277+1424del	XM_005260603.1:c.277+1424del	XM_005260603.1:c.277+1424dup	XM_005260603.1:c.277+1423_277+1424dup	XM_005260603.1:c.277+1399_277+1424dup
WISP2 transcript variant X2	XM_005260604.1:c.285+1391=	XM_005260604.1:c.285+1401_285+1416del	XM_005260604.1:c.285+1403_285+1416del	XM_005260604.1:c.285+1404_285+1416del	XM_005260604.1:c.285+1406_285+1416del	XM_005260604.1:c.285+1407_285+1416del	XM_005260604.1:c.285+1408_285+1416del	XM_005260604.1:c.285+1409_285+1416del	XM_005260604.1:c.285+1410_285+1416del	XM_005260604.1:c.285+1411_285+1416del	XM_005260604.1:c.285+1412_285+1416del	XM_005260604.1:c.285+1413_285+1416del	XM_005260604.1:c.285+1414_285+1416del	XM_005260604.1:c.285+1415_285+1416del	XM_005260604.1:c.285+1416del	XM_005260604.1:c.285+1416dup	XM_005260604.1:c.285+1415_285+1416dup	XM_005260604.1:c.285+1391_285+1416dup
CCN5 transcript variant X1	XM_047440578.1:c.277+1399=	XM_047440578.1:c.277+1409_277+1424del	XM_047440578.1:c.277+1411_277+1424del	XM_047440578.1:c.277+1412_277+1424del	XM_047440578.1:c.277+1414_277+1424del	XM_047440578.1:c.277+1415_277+1424del	XM_047440578.1:c.277+1416_277+1424del	XM_047440578.1:c.277+1417_277+1424del	XM_047440578.1:c.277+1418_277+1424del	XM_047440578.1:c.277+1419_277+1424del	XM_047440578.1:c.277+1420_277+1424del	XM_047440578.1:c.277+1421_277+1424del	XM_047440578.1:c.277+1422_277+1424del	XM_047440578.1:c.277+1423_277+1424del	XM_047440578.1:c.277+1424del	XM_047440578.1:c.277+1424dup	XM_047440578.1:c.277+1423_277+1424dup	XM_047440578.1:c.277+1399_277+1424dup
CCN5 transcript variant X2	XM_047440579.1:c.277+1399=	XM_047440579.1:c.277+1409_277+1424del	XM_047440579.1:c.277+1411_277+1424del	XM_047440579.1:c.277+1412_277+1424del	XM_047440579.1:c.277+1414_277+1424del	XM_047440579.1:c.277+1415_277+1424del	XM_047440579.1:c.277+1416_277+1424del	XM_047440579.1:c.277+1417_277+1424del	XM_047440579.1:c.277+1418_277+1424del	XM_047440579.1:c.277+1419_277+1424del	XM_047440579.1:c.277+1420_277+1424del	XM_047440579.1:c.277+1421_277+1424del	XM_047440579.1:c.277+1422_277+1424del	XM_047440579.1:c.277+1423_277+1424del	XM_047440579.1:c.277+1424del	XM_047440579.1:c.277+1424dup	XM_047440579.1:c.277+1423_277+1424dup	XM_047440579.1:c.277+1399_277+1424dup

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#.

57 SubSNP, 33 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss81025029	Dec 15, 2007 (129)
2	HUMANGENOME_JCVI	ss95740877	Feb 05, 2009 (130)
3	BCMHGSC_JDW	ss103651076	Mar 15, 2016 (147)
4	PJP	ss295049767	Aug 21, 2014 (142)
5	PJP	ss295049768	May 09, 2011 (135)
6	1000GENOMES	ss1378510597	Aug 21, 2014 (142)
7	EVA_UK10K_ALSPAC	ss1709371664	Apr 01, 2015 (144)
8	EVA_UK10K_TWINSUK	ss1709371878	Apr 01, 2015 (144)
9	EVA_UK10K_ALSPAC	ss1710815188	Apr 01, 2015 (144)
10	EVA_UK10K_ALSPAC	ss1710815190	Apr 01, 2015 (144)
11	EVA_UK10K_TWINSUK	ss1710815191	Apr 01, 2015 (144)
12	EVA_UK10K_TWINSUK	ss1710815193	Apr 01, 2015 (144)
13	SWEGEN	ss3018238764	Nov 08, 2017 (151)
14	URBANLAB	ss3651025769	Oct 12, 2018 (152)
15	EVA_DECODE	ss3707015439	Jul 13, 2019 (153)
16	EVA_DECODE	ss3707015440	Jul 13, 2019 (153)
17	EVA_DECODE	ss3707015441	Jul 13, 2019 (153)
18	EVA_DECODE	ss3707015442	Jul 13, 2019 (153)
19	EVA_DECODE	ss3707015443	Jul 13, 2019 (153)
20	PACBIO	ss3788656318	Jul 13, 2019 (153)
21	PACBIO	ss3793546168	Jul 13, 2019 (153)
22	PACBIO	ss3798433114	Jul 13, 2019 (153)
23	KHV_HUMAN_GENOMES	ss3821847318	Jul 13, 2019 (153)
24	EVA	ss3835688891	Apr 27, 2020 (154)
25	GNOMAD	ss4354023843	Apr 27, 2021 (155)
26	GNOMAD	ss4354023844	Apr 27, 2021 (155)
27	GNOMAD	ss4354023845	Apr 27, 2021 (155)
28	GNOMAD	ss4354023846	Apr 27, 2021 (155)
29	GNOMAD	ss4354023847	Apr 27, 2021 (155)
30	GNOMAD	ss4354023848	Apr 27, 2021 (155)
31	GNOMAD	ss4354023849	Apr 27, 2021 (155)
32	GNOMAD	ss4354023850	Apr 27, 2021 (155)
33	GNOMAD	ss4354023851	Apr 27, 2021 (155)
34	GNOMAD	ss4354023852	Apr 27, 2021 (155)
35	GNOMAD	ss4354023853	Apr 27, 2021 (155)
36	GNOMAD	ss4354023854	Apr 27, 2021 (155)
37	GNOMAD	ss4354023855	Apr 27, 2021 (155)
38	GNOMAD	ss4354023856	Apr 27, 2021 (155)
39	GNOMAD	ss4354023857	Apr 27, 2021 (155)
40	TOMMO_GENOMICS	ss5229811092	Apr 27, 2021 (155)
41	TOMMO_GENOMICS	ss5229811093	Apr 27, 2021 (155)
42	TOMMO_GENOMICS	ss5229811094	Apr 27, 2021 (155)
43	TOMMO_GENOMICS	ss5229811095	Apr 27, 2021 (155)
44	TOMMO_GENOMICS	ss5229811096	Apr 27, 2021 (155)
45	TOMMO_GENOMICS	ss5229811097	Apr 27, 2021 (155)
46	1000G_HIGH_COVERAGE	ss5308923313	Oct 16, 2022 (156)
47	1000G_HIGH_COVERAGE	ss5308923314	Oct 16, 2022 (156)
48	1000G_HIGH_COVERAGE	ss5308923315	Oct 16, 2022 (156)
49	1000G_HIGH_COVERAGE	ss5308923316	Oct 16, 2022 (156)
50	HUGCELL_USP	ss5501189866	Oct 16, 2022 (156)
51	HUGCELL_USP	ss5501189867	Oct 16, 2022 (156)
52	HUGCELL_USP	ss5501189868	Oct 16, 2022 (156)
53	TOMMO_GENOMICS	ss5789660578	Oct 16, 2022 (156)
54	TOMMO_GENOMICS	ss5789660579	Oct 16, 2022 (156)
55	TOMMO_GENOMICS	ss5789660580	Oct 16, 2022 (156)
56	TOMMO_GENOMICS	ss5789660581	Oct 16, 2022 (156)
57	TOMMO_GENOMICS	ss5789660582	Oct 16, 2022 (156)
58	1000Genomes	NC_000020.10 - 43350153	Oct 12, 2018 (152)
59	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 43391015 (NC_000020.10:43350153:AA: 910/3854) Row 43391017 (NC_000020.10:43350152:AAAA: 347/3854)	-	Oct 12, 2018 (152)
60	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 43391015 (NC_000020.10:43350153:AA: 910/3854) Row 43391017 (NC_000020.10:43350152:AAAA: 347/3854)	-	Oct 12, 2018 (152)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 552899995 (NC_000020.11:44721511::A 1816/49720) Row 552899996 (NC_000020.11:44721511::AA 22/49722) Row 552899997 (NC_000020.11:44721511::AAAAAAAAAAAAAAAAAAAAAAAAAA 1/49724)...	-	Apr 27, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 552899995 (NC_000020.11:44721511::A 1816/49720) Row 552899996 (NC_000020.11:44721511::AA 22/49722) Row 552899997 (NC_000020.11:44721511::AAAAAAAAAAAAAAAAAAAAAAAAAA 1/49724)...	-	Apr 27, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 552899995 (NC_000020.11:44721511::A 1816/49720) Row 552899996 (NC_000020.11:44721511::AA 22/49722) Row 552899997 (NC_000020.11:44721511::AAAAAAAAAAAAAAAAAAAAAAAAAA 1/49724)...	-	Apr 27, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 552899995 (NC_000020.11:44721511::A 1816/49720) Row 552899996 (NC_000020.11:44721511::AA 22/49722) Row 552899997 (NC_000020.11:44721511::AAAAAAAAAAAAAAAAAAAAAAAAAA 1/49724)...	-	Apr 27, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 552899995 (NC_000020.11:44721511::A 1816/49720) Row 552899996 (NC_000020.11:44721511::AA 22/49722) Row 552899997 (NC_000020.11:44721511::AAAAAAAAAAAAAAAAAAAAAAAAAA 1/49724)...	-	Apr 27, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 552899995 (NC_000020.11:44721511::A 1816/49720) Row 552899996 (NC_000020.11:44721511::AA 22/49722) Row 552899997 (NC_000020.11:44721511::AAAAAAAAAAAAAAAAAAAAAAAAAA 1/49724)...	-	Apr 27, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 552899995 (NC_000020.11:44721511::A 1816/49720) Row 552899996 (NC_000020.11:44721511::AA 22/49722) Row 552899997 (NC_000020.11:44721511::AAAAAAAAAAAAAAAAAAAAAAAAAA 1/49724)...	-	Apr 27, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 552899995 (NC_000020.11:44721511::A 1816/49720) Row 552899996 (NC_000020.11:44721511::AA 22/49722) Row 552899997 (NC_000020.11:44721511::AAAAAAAAAAAAAAAAAAAAAAAAAA 1/49724)...	-	Apr 27, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 552899995 (NC_000020.11:44721511::A 1816/49720) Row 552899996 (NC_000020.11:44721511::AA 22/49722) Row 552899997 (NC_000020.11:44721511::AAAAAAAAAAAAAAAAAAAAAAAAAA 1/49724)...	-	Apr 27, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 552899995 (NC_000020.11:44721511::A 1816/49720) Row 552899996 (NC_000020.11:44721511::AA 22/49722) Row 552899997 (NC_000020.11:44721511::AAAAAAAAAAAAAAAAAAAAAAAAAA 1/49724)...	-	Apr 27, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 552899995 (NC_000020.11:44721511::A 1816/49720) Row 552899996 (NC_000020.11:44721511::AA 22/49722) Row 552899997 (NC_000020.11:44721511::AAAAAAAAAAAAAAAAAAAAAAAAAA 1/49724)...	-	Apr 27, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 552899995 (NC_000020.11:44721511::A 1816/49720) Row 552899996 (NC_000020.11:44721511::AA 22/49722) Row 552899997 (NC_000020.11:44721511::AAAAAAAAAAAAAAAAAAAAAAAAAA 1/49724)...	-	Apr 27, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 552899995 (NC_000020.11:44721511::A 1816/49720) Row 552899996 (NC_000020.11:44721511::AA 22/49722) Row 552899997 (NC_000020.11:44721511::AAAAAAAAAAAAAAAAAAAAAAAAAA 1/49724)...	-	Apr 27, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 552899995 (NC_000020.11:44721511::A 1816/49720) Row 552899996 (NC_000020.11:44721511::AA 22/49722) Row 552899997 (NC_000020.11:44721511::AAAAAAAAAAAAAAAAAAAAAAAAAA 1/49724)...	-	Apr 27, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 552899995 (NC_000020.11:44721511::A 1816/49720) Row 552899996 (NC_000020.11:44721511::AA 22/49722) Row 552899997 (NC_000020.11:44721511::AAAAAAAAAAAAAAAAAAAAAAAAAA 1/49724)...	-	Apr 27, 2021 (155)
76	8.3KJPN Submission ignored due to conflicting rows: Row 87780399 (NC_000020.10:43350152:AA: 8178/15376) Row 87780400 (NC_000020.10:43350152:AAA: 88/15376) Row 87780401 (NC_000020.10:43350152::A 430/15376)...	-	Apr 27, 2021 (155)
77	8.3KJPN Submission ignored due to conflicting rows: Row 87780399 (NC_000020.10:43350152:AA: 8178/15376) Row 87780400 (NC_000020.10:43350152:AAA: 88/15376) Row 87780401 (NC_000020.10:43350152::A 430/15376)...	-	Apr 27, 2021 (155)
78	8.3KJPN Submission ignored due to conflicting rows: Row 87780399 (NC_000020.10:43350152:AA: 8178/15376) Row 87780400 (NC_000020.10:43350152:AAA: 88/15376) Row 87780401 (NC_000020.10:43350152::A 430/15376)...	-	Apr 27, 2021 (155)
79	8.3KJPN Submission ignored due to conflicting rows: Row 87780399 (NC_000020.10:43350152:AA: 8178/15376) Row 87780400 (NC_000020.10:43350152:AAA: 88/15376) Row 87780401 (NC_000020.10:43350152::A 430/15376)...	-	Apr 27, 2021 (155)
80	8.3KJPN Submission ignored due to conflicting rows: Row 87780399 (NC_000020.10:43350152:AA: 8178/15376) Row 87780400 (NC_000020.10:43350152:AAA: 88/15376) Row 87780401 (NC_000020.10:43350152::A 430/15376)...	-	Apr 27, 2021 (155)
81	8.3KJPN Submission ignored due to conflicting rows: Row 87780399 (NC_000020.10:43350152:AA: 8178/15376) Row 87780400 (NC_000020.10:43350152:AAA: 88/15376) Row 87780401 (NC_000020.10:43350152::A 430/15376)...	-	Apr 27, 2021 (155)
82	14KJPN Submission ignored due to conflicting rows: Row 123497682 (NC_000020.11:44721511:AA: 15834/24994) Row 123497683 (NC_000020.11:44721511:AAA: 193/24994) Row 123497684 (NC_000020.11:44721511:A: 252/24994)...	-	Oct 16, 2022 (156)
83	14KJPN Submission ignored due to conflicting rows: Row 123497682 (NC_000020.11:44721511:AA: 15834/24994) Row 123497683 (NC_000020.11:44721511:AAA: 193/24994) Row 123497684 (NC_000020.11:44721511:A: 252/24994)...	-	Oct 16, 2022 (156)
84	14KJPN Submission ignored due to conflicting rows: Row 123497682 (NC_000020.11:44721511:AA: 15834/24994) Row 123497683 (NC_000020.11:44721511:AAA: 193/24994) Row 123497684 (NC_000020.11:44721511:A: 252/24994)...	-	Oct 16, 2022 (156)
85	14KJPN Submission ignored due to conflicting rows: Row 123497682 (NC_000020.11:44721511:AA: 15834/24994) Row 123497683 (NC_000020.11:44721511:AAA: 193/24994) Row 123497684 (NC_000020.11:44721511:A: 252/24994)...	-	Oct 16, 2022 (156)
86	14KJPN Submission ignored due to conflicting rows: Row 123497682 (NC_000020.11:44721511:AA: 15834/24994) Row 123497683 (NC_000020.11:44721511:AAA: 193/24994) Row 123497684 (NC_000020.11:44721511:A: 252/24994)...	-	Oct 16, 2022 (156)
87	UK 10K study - Twins Submission ignored due to conflicting rows: Row 43391015 (NC_000020.10:43350153:AA: 829/3708) Row 43391017 (NC_000020.10:43350152:AAAA: 288/3708)	-	Oct 12, 2018 (152)
88	UK 10K study - Twins Submission ignored due to conflicting rows: Row 43391015 (NC_000020.10:43350153:AAA: 829/3708) Row 43391016 (NC_000020.10:43350154:AA: 2544/3708) Row 43391017 (NC_000020.10:43350152:AAAA: 288/3708)	-	Apr 27, 2020 (154)
89	UK 10K study - Twins Submission ignored due to conflicting rows: Row 43391015 (NC_000020.10:43350153:AA: 829/3708) Row 43391017 (NC_000020.10:43350152:AAAA: 288/3708)	-	Oct 12, 2018 (152)
90	ALFA	NC_000020.11 - 44721512	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)
rs78671648	May 11, 2012 (137)
rs72556441	May 11, 2012 (137)
rs139044371	Sep 17, 2011 (135)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4354023857	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAA:	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
9413370081	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
ss4354023856	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAA:	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
9413370081	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4354023855	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAA:	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
9413370081	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4354023854	NC_000020.11:44721511:AAAAAAAAAAA:	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
9413370081	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4354023853	NC_000020.11:44721511:AAAAAAAAAA:	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
9413370081	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss5229811096	NC_000020.10:43350152:AAAAAAAAA:	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4354023852, ss5308923314, ss5789660582	NC_000020.11:44721511:AAAAAAAAA:	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
9413370081	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4354023851, ss5308923316	NC_000020.11:44721511:AAAAAAAA:	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
9413370081	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss5229811097	NC_000020.10:43350152:AAAAAAA:	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4354023850	NC_000020.11:44721511:AAAAAAA:	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
9413370081	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4354023849	NC_000020.11:44721511:AAAAAA:	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
9413370081	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss103651076	NT_011362.10:13546264:AAAAAA:	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4354023848	NC_000020.11:44721511:AAAAA:	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
9413370081	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss1709371664, ss1709371878	NC_000020.10:43350152:AAAA:	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3707015443	NC_000020.11:44721511:AAAA:	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
9413370081	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3018238764, ss5229811093	NC_000020.10:43350152:AAA:	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss1710815188, ss1710815191	NC_000020.10:43350153:AAA:	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4354023847, ss5308923315, ss5501189866, ss5789660579	NC_000020.11:44721511:AAA:	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
9413370081	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3707015442	NC_000020.11:44721512:AAA:	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss295049767	NC_000020.9:42783566:AA:	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss81025029, ss295049768	NC_000020.9:42783590:AA:	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
78382153, ss1378510597, ss3788656318, ss3793546168, ss3798433114, ss3835688891, ss5229811092	NC_000020.10:43350152:AA:	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
	NC_000020.10:43350153:AA:	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss1710815190, ss1710815193	NC_000020.10:43350154:AA:	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3821847318, ss4354023846, ss5501189867, ss5789660578	NC_000020.11:44721511:AA:	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
9413370081	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3707015441	NC_000020.11:44721513:AA:	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss95740877	NT_011362.10:13546268:AA:	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5229811095	NC_000020.10:43350152:A:	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3651025769, ss5501189868, ss5789660580	NC_000020.11:44721511:A:	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
9413370081	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3707015440	NC_000020.11:44721514:A:	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5229811094	NC_000020.10:43350152::A	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4354023843, ss5308923313, ss5789660581	NC_000020.11:44721511::A	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
9413370081	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3707015439	NC_000020.11:44721515::A	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4354023844	NC_000020.11:44721511::AA	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
9413370081	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4354023845	NC_000020.11:44721511::AAAAAAAAAAA… NC_000020.11:44721511::AAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000020.11:44721511:AAAAAAAAAAAA… NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(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 rs59320118

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

rs59320118