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dbSNP Short Genetic Variations

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.

rs11341536

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr20:44722466-44722485 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
del(T)10 / del(T)5 / del(T)4 / del…

del(T)10 / del(T)5 / del(T)4 / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)4 / dup(T)5 / dup(T)7

Variation Type
Indel Insertion and Deletion
Frequency
del(T)10=0.000 (0/504, ALFA)
del(T)5=0.000 (0/504, ALFA)
delTTT=0.000 (0/504, ALFA) (+ 5 more)
delTT=0.000 (0/504, ALFA)
delT=0.000 (0/504, ALFA)
dupT=0.000 (0/504, ALFA)
dupTT=0.000 (0/504, ALFA)
dupTTT=0.000 (0/504, 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 504 TTTTTTTTTTTTTTTTTTTT=1.000 TTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
European Sub 78 TTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
African Sub 326 TTTTTTTTTTTTTTTTTTTT=1.000 TTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
African Others Sub 18 TTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
African American Sub 308 TTTTTTTTTTTTTTTTTTTT=1.000 TTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
Asian Sub 12 TTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
East Asian Sub 10 TTTTTTTTTTTTTTTTTTTT=1.0 TTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
Other Asian Sub 2 TTTTTTTTTTTTTTTTTTTT=1.0 TTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
Latin American 1 Sub 8 TTTTTTTTTTTTTTTTTTTT=1.0 TTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
Latin American 2 Sub 58 TTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
South Asian Sub 0 TTTTTTTTTTTTTTTTTTTT=0 TTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0 0 0 0 N/A
Other Sub 22 TTTTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A


Help

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
Allele Frequency Aggregator Total Global 504 (T)20=1.000 del(T)10=0.000, del(T)5=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000
Allele Frequency Aggregator African Sub 326 (T)20=1.000 del(T)10=0.000, del(T)5=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000
Allele Frequency Aggregator European Sub 78 (T)20=1.00 del(T)10=0.00, del(T)5=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00
Allele Frequency Aggregator Latin American 2 Sub 58 (T)20=1.00 del(T)10=0.00, del(T)5=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00
Allele Frequency Aggregator Other Sub 22 (T)20=1.00 del(T)10=0.00, del(T)5=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00
Allele Frequency Aggregator Asian Sub 12 (T)20=1.00 del(T)10=0.00, del(T)5=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00
Allele Frequency Aggregator Latin American 1 Sub 8 (T)20=1.0 del(T)10=0.0, del(T)5=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dupTTT=0.0
Allele Frequency Aggregator South Asian Sub 0 (T)20=0 del(T)10=0, del(T)5=0, delTTT=0, delTT=0, delT=0, dupT=0, dupTT=0, dupTTT=0
Help

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.44722476_44722485del
GRCh38.p14 chr 20 NC_000020.11:g.44722481_44722485del
GRCh38.p14 chr 20 NC_000020.11:g.44722482_44722485del
GRCh38.p14 chr 20 NC_000020.11:g.44722483_44722485del
GRCh38.p14 chr 20 NC_000020.11:g.44722484_44722485del
GRCh38.p14 chr 20 NC_000020.11:g.44722485del
GRCh38.p14 chr 20 NC_000020.11:g.44722485dup
GRCh38.p14 chr 20 NC_000020.11:g.44722484_44722485dup
GRCh38.p14 chr 20 NC_000020.11:g.44722483_44722485dup
GRCh38.p14 chr 20 NC_000020.11:g.44722482_44722485dup
GRCh38.p14 chr 20 NC_000020.11:g.44722481_44722485dup
GRCh38.p14 chr 20 NC_000020.11:g.44722479_44722485dup
GRCh37.p13 chr 20 NC_000020.10:g.43351117_43351126del
GRCh37.p13 chr 20 NC_000020.10:g.43351122_43351126del
GRCh37.p13 chr 20 NC_000020.10:g.43351123_43351126del
GRCh37.p13 chr 20 NC_000020.10:g.43351124_43351126del
GRCh37.p13 chr 20 NC_000020.10:g.43351125_43351126del
GRCh37.p13 chr 20 NC_000020.10:g.43351126del
GRCh37.p13 chr 20 NC_000020.10:g.43351126dup
GRCh37.p13 chr 20 NC_000020.10:g.43351125_43351126dup
GRCh37.p13 chr 20 NC_000020.10:g.43351124_43351126dup
GRCh37.p13 chr 20 NC_000020.10:g.43351123_43351126dup
GRCh37.p13 chr 20 NC_000020.10:g.43351122_43351126dup
GRCh37.p13 chr 20 NC_000020.10:g.43351120_43351126dup
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+2355…

NM_001323369.2:c.285+2355_285+2364del

N/A Intron Variant
CCN5 transcript variant 1 NM_001323370.2:c.278-2262…

NM_001323370.2:c.278-2262_278-2253del

N/A Intron Variant
CCN5 transcript variant 3 NM_003881.4:c.278-2262_27…

NM_003881.4:c.278-2262_278-2253del

N/A Intron Variant
CCN5 transcript variant X1 XM_047440578.1:c.278-2262…

XM_047440578.1:c.278-2262_278-2253del

N/A Intron Variant
CCN5 transcript variant X2 XM_047440579.1:c.278-2262…

XM_047440579.1:c.278-2262_278-2253del

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
Help

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
Help

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

Placement (T)20= del(T)10 del(T)5 del(T)4 delTTT delTT delT dupT dupTT dupTTT dup(T)4 dup(T)5 dup(T)7
GRCh38.p14 chr 20 NC_000020.11:g.44722466_44722485= NC_000020.11:g.44722476_44722485del NC_000020.11:g.44722481_44722485del NC_000020.11:g.44722482_44722485del NC_000020.11:g.44722483_44722485del NC_000020.11:g.44722484_44722485del NC_000020.11:g.44722485del NC_000020.11:g.44722485dup NC_000020.11:g.44722484_44722485dup NC_000020.11:g.44722483_44722485dup NC_000020.11:g.44722482_44722485dup NC_000020.11:g.44722481_44722485dup NC_000020.11:g.44722479_44722485dup
GRCh37.p13 chr 20 NC_000020.10:g.43351107_43351126= NC_000020.10:g.43351117_43351126del NC_000020.10:g.43351122_43351126del NC_000020.10:g.43351123_43351126del NC_000020.10:g.43351124_43351126del NC_000020.10:g.43351125_43351126del NC_000020.10:g.43351126del NC_000020.10:g.43351126dup NC_000020.10:g.43351125_43351126dup NC_000020.10:g.43351124_43351126dup NC_000020.10:g.43351123_43351126dup NC_000020.10:g.43351122_43351126dup NC_000020.10:g.43351120_43351126dup
CCN5 transcript variant 2 NM_001323369.2:c.285+2345= NM_001323369.2:c.285+2355_285+2364del NM_001323369.2:c.285+2360_285+2364del NM_001323369.2:c.285+2361_285+2364del NM_001323369.2:c.285+2362_285+2364del NM_001323369.2:c.285+2363_285+2364del NM_001323369.2:c.285+2364del NM_001323369.2:c.285+2364dup NM_001323369.2:c.285+2363_285+2364dup NM_001323369.2:c.285+2362_285+2364dup NM_001323369.2:c.285+2361_285+2364dup NM_001323369.2:c.285+2360_285+2364dup NM_001323369.2:c.285+2358_285+2364dup
CCN5 transcript variant 1 NM_001323370.2:c.278-2272= NM_001323370.2:c.278-2262_278-2253del NM_001323370.2:c.278-2257_278-2253del NM_001323370.2:c.278-2256_278-2253del NM_001323370.2:c.278-2255_278-2253del NM_001323370.2:c.278-2254_278-2253del NM_001323370.2:c.278-2253del NM_001323370.2:c.278-2253dup NM_001323370.2:c.278-2254_278-2253dup NM_001323370.2:c.278-2255_278-2253dup NM_001323370.2:c.278-2256_278-2253dup NM_001323370.2:c.278-2257_278-2253dup NM_001323370.2:c.278-2259_278-2253dup
WISP2 transcript NM_003881.2:c.278-2272= NM_003881.2:c.278-2262_278-2253del NM_003881.2:c.278-2257_278-2253del NM_003881.2:c.278-2256_278-2253del NM_003881.2:c.278-2255_278-2253del NM_003881.2:c.278-2254_278-2253del NM_003881.2:c.278-2253del NM_003881.2:c.278-2253dup NM_003881.2:c.278-2254_278-2253dup NM_003881.2:c.278-2255_278-2253dup NM_003881.2:c.278-2256_278-2253dup NM_003881.2:c.278-2257_278-2253dup NM_003881.2:c.278-2259_278-2253dup
CCN5 transcript variant 3 NM_003881.4:c.278-2272= NM_003881.4:c.278-2262_278-2253del NM_003881.4:c.278-2257_278-2253del NM_003881.4:c.278-2256_278-2253del NM_003881.4:c.278-2255_278-2253del NM_003881.4:c.278-2254_278-2253del NM_003881.4:c.278-2253del NM_003881.4:c.278-2253dup NM_003881.4:c.278-2254_278-2253dup NM_003881.4:c.278-2255_278-2253dup NM_003881.4:c.278-2256_278-2253dup NM_003881.4:c.278-2257_278-2253dup NM_003881.4:c.278-2259_278-2253dup
WISP2 transcript variant X1 XM_005260603.1:c.278-2272= XM_005260603.1:c.278-2262_278-2253del XM_005260603.1:c.278-2257_278-2253del XM_005260603.1:c.278-2256_278-2253del XM_005260603.1:c.278-2255_278-2253del XM_005260603.1:c.278-2254_278-2253del XM_005260603.1:c.278-2253del XM_005260603.1:c.278-2253dup XM_005260603.1:c.278-2254_278-2253dup XM_005260603.1:c.278-2255_278-2253dup XM_005260603.1:c.278-2256_278-2253dup XM_005260603.1:c.278-2257_278-2253dup XM_005260603.1:c.278-2259_278-2253dup
WISP2 transcript variant X2 XM_005260604.1:c.285+2345= XM_005260604.1:c.285+2355_285+2364del XM_005260604.1:c.285+2360_285+2364del XM_005260604.1:c.285+2361_285+2364del XM_005260604.1:c.285+2362_285+2364del XM_005260604.1:c.285+2363_285+2364del XM_005260604.1:c.285+2364del XM_005260604.1:c.285+2364dup XM_005260604.1:c.285+2363_285+2364dup XM_005260604.1:c.285+2362_285+2364dup XM_005260604.1:c.285+2361_285+2364dup XM_005260604.1:c.285+2360_285+2364dup XM_005260604.1:c.285+2358_285+2364dup
CCN5 transcript variant X1 XM_047440578.1:c.278-2272= XM_047440578.1:c.278-2262_278-2253del XM_047440578.1:c.278-2257_278-2253del XM_047440578.1:c.278-2256_278-2253del XM_047440578.1:c.278-2255_278-2253del XM_047440578.1:c.278-2254_278-2253del XM_047440578.1:c.278-2253del XM_047440578.1:c.278-2253dup XM_047440578.1:c.278-2254_278-2253dup XM_047440578.1:c.278-2255_278-2253dup XM_047440578.1:c.278-2256_278-2253dup XM_047440578.1:c.278-2257_278-2253dup XM_047440578.1:c.278-2259_278-2253dup
CCN5 transcript variant X2 XM_047440579.1:c.278-2272= XM_047440579.1:c.278-2262_278-2253del XM_047440579.1:c.278-2257_278-2253del XM_047440579.1:c.278-2256_278-2253del XM_047440579.1:c.278-2255_278-2253del XM_047440579.1:c.278-2254_278-2253del XM_047440579.1:c.278-2253del XM_047440579.1:c.278-2253dup XM_047440579.1:c.278-2254_278-2253dup XM_047440579.1:c.278-2255_278-2253dup XM_047440579.1:c.278-2256_278-2253dup XM_047440579.1:c.278-2257_278-2253dup XM_047440579.1:c.278-2259_278-2253dup
Help

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, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 ABI ss41383677 Dec 03, 2013 (138)
2 ABI ss41398634 Dec 03, 2013 (138)
3 HUMANGENOME_JCVI ss95740878 Feb 13, 2009 (137)
4 HUMANGENOME_JCVI ss96247796 Feb 04, 2009 (130)
5 PJP ss295049769 May 09, 2011 (137)
6 PJP ss295049770 May 09, 2011 (137)
7 SSMP ss664477342 Apr 01, 2015 (144)
8 SWEGEN ss3018238778 Jan 10, 2018 (151)
9 EVA_DECODE ss3707015460 Jul 13, 2019 (153)
10 EVA_DECODE ss3707015463 Jul 13, 2019 (153)
11 EVA_DECODE ss3707015464 Jul 13, 2019 (153)
12 PACBIO ss3793546169 Jul 13, 2019 (153)
13 PACBIO ss3793546170 Jul 13, 2019 (153)
14 PACBIO ss3798433115 Jul 13, 2019 (153)
15 PACBIO ss3798433116 Jul 13, 2019 (153)
16 EVA ss3835688895 Apr 27, 2020 (154)
17 GNOMAD ss4354023968 Apr 27, 2021 (155)
18 GNOMAD ss4354023969 Apr 27, 2021 (155)
19 GNOMAD ss4354023970 Apr 27, 2021 (155)
20 GNOMAD ss4354023971 Apr 27, 2021 (155)
21 GNOMAD ss4354023972 Apr 27, 2021 (155)
22 GNOMAD ss4354023973 Apr 27, 2021 (155)
23 GNOMAD ss4354023975 Apr 27, 2021 (155)
24 GNOMAD ss4354023976 Apr 27, 2021 (155)
25 GNOMAD ss4354023977 Apr 27, 2021 (155)
26 GNOMAD ss4354023978 Apr 27, 2021 (155)
27 GNOMAD ss4354023979 Apr 27, 2021 (155)
28 TOMMO_GENOMICS ss5229811132 Apr 27, 2021 (155)
29 TOMMO_GENOMICS ss5229811133 Apr 27, 2021 (155)
30 TOMMO_GENOMICS ss5229811134 Apr 27, 2021 (155)
31 TOMMO_GENOMICS ss5229811135 Apr 27, 2021 (155)
32 TOMMO_GENOMICS ss5229811136 Apr 27, 2021 (155)
33 1000G_HIGH_COVERAGE ss5308923345 Oct 16, 2022 (156)
34 1000G_HIGH_COVERAGE ss5308923346 Oct 16, 2022 (156)
35 HUGCELL_USP ss5501189891 Oct 16, 2022 (156)
36 HUGCELL_USP ss5501189892 Oct 16, 2022 (156)
37 HUGCELL_USP ss5501189893 Oct 16, 2022 (156)
38 HUGCELL_USP ss5501189894 Oct 16, 2022 (156)
39 TOMMO_GENOMICS ss5789660623 Oct 16, 2022 (156)
40 TOMMO_GENOMICS ss5789660624 Oct 16, 2022 (156)
41 TOMMO_GENOMICS ss5789660625 Oct 16, 2022 (156)
42 TOMMO_GENOMICS ss5789660626 Oct 16, 2022 (156)
43 TOMMO_GENOMICS ss5789660627 Oct 16, 2022 (156)
44 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 552900198 (NC_000020.11:44722465::T 30870/98628)
Row 552900199 (NC_000020.11:44722465::TT 6896/98500)
Row 552900200 (NC_000020.11:44722465::TTT 109/98584)...

- Apr 27, 2021 (155)
45 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 552900198 (NC_000020.11:44722465::T 30870/98628)
Row 552900199 (NC_000020.11:44722465::TT 6896/98500)
Row 552900200 (NC_000020.11:44722465::TTT 109/98584)...

- Apr 27, 2021 (155)
46 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 552900198 (NC_000020.11:44722465::T 30870/98628)
Row 552900199 (NC_000020.11:44722465::TT 6896/98500)
Row 552900200 (NC_000020.11:44722465::TTT 109/98584)...

- Apr 27, 2021 (155)
47 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 552900198 (NC_000020.11:44722465::T 30870/98628)
Row 552900199 (NC_000020.11:44722465::TT 6896/98500)
Row 552900200 (NC_000020.11:44722465::TTT 109/98584)...

- Apr 27, 2021 (155)
48 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 552900198 (NC_000020.11:44722465::T 30870/98628)
Row 552900199 (NC_000020.11:44722465::TT 6896/98500)
Row 552900200 (NC_000020.11:44722465::TTT 109/98584)...

- Apr 27, 2021 (155)
49 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 552900198 (NC_000020.11:44722465::T 30870/98628)
Row 552900199 (NC_000020.11:44722465::TT 6896/98500)
Row 552900200 (NC_000020.11:44722465::TTT 109/98584)...

- Apr 27, 2021 (155)
50 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 552900198 (NC_000020.11:44722465::T 30870/98628)
Row 552900199 (NC_000020.11:44722465::TT 6896/98500)
Row 552900200 (NC_000020.11:44722465::TTT 109/98584)...

- Apr 27, 2021 (155)
51 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 552900198 (NC_000020.11:44722465::T 30870/98628)
Row 552900199 (NC_000020.11:44722465::TT 6896/98500)
Row 552900200 (NC_000020.11:44722465::TTT 109/98584)...

- Apr 27, 2021 (155)
52 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 552900198 (NC_000020.11:44722465::T 30870/98628)
Row 552900199 (NC_000020.11:44722465::TT 6896/98500)
Row 552900200 (NC_000020.11:44722465::TTT 109/98584)...

- Apr 27, 2021 (155)
53 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 552900198 (NC_000020.11:44722465::T 30870/98628)
Row 552900199 (NC_000020.11:44722465::TT 6896/98500)
Row 552900200 (NC_000020.11:44722465::TTT 109/98584)...

- Apr 27, 2021 (155)
54 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 552900198 (NC_000020.11:44722465::T 30870/98628)
Row 552900199 (NC_000020.11:44722465::TT 6896/98500)
Row 552900200 (NC_000020.11:44722465::TTT 109/98584)...

- Apr 27, 2021 (155)
55 8.3KJPN

Submission ignored due to conflicting rows:
Row 87780439 (NC_000020.10:43351106:TT: 11/15528)
Row 87780440 (NC_000020.10:43351106::T 3193/15528)
Row 87780441 (NC_000020.10:43351106:TTT: 13/15528)...

- Apr 27, 2021 (155)
56 8.3KJPN

Submission ignored due to conflicting rows:
Row 87780439 (NC_000020.10:43351106:TT: 11/15528)
Row 87780440 (NC_000020.10:43351106::T 3193/15528)
Row 87780441 (NC_000020.10:43351106:TTT: 13/15528)...

- Apr 27, 2021 (155)
57 8.3KJPN

Submission ignored due to conflicting rows:
Row 87780439 (NC_000020.10:43351106:TT: 11/15528)
Row 87780440 (NC_000020.10:43351106::T 3193/15528)
Row 87780441 (NC_000020.10:43351106:TTT: 13/15528)...

- Apr 27, 2021 (155)
58 8.3KJPN

Submission ignored due to conflicting rows:
Row 87780439 (NC_000020.10:43351106:TT: 11/15528)
Row 87780440 (NC_000020.10:43351106::T 3193/15528)
Row 87780441 (NC_000020.10:43351106:TTT: 13/15528)...

- Apr 27, 2021 (155)
59 8.3KJPN

Submission ignored due to conflicting rows:
Row 87780439 (NC_000020.10:43351106:TT: 11/15528)
Row 87780440 (NC_000020.10:43351106::T 3193/15528)
Row 87780441 (NC_000020.10:43351106:TTT: 13/15528)...

- Apr 27, 2021 (155)
60 14KJPN

Submission ignored due to conflicting rows:
Row 123497727 (NC_000020.11:44722465:TT: 32/27386)
Row 123497728 (NC_000020.11:44722465:TTT: 131/27386)
Row 123497729 (NC_000020.11:44722465:T: 7290/27386)...

- Oct 16, 2022 (156)
61 14KJPN

Submission ignored due to conflicting rows:
Row 123497727 (NC_000020.11:44722465:TT: 32/27386)
Row 123497728 (NC_000020.11:44722465:TTT: 131/27386)
Row 123497729 (NC_000020.11:44722465:T: 7290/27386)...

- Oct 16, 2022 (156)
62 14KJPN

Submission ignored due to conflicting rows:
Row 123497727 (NC_000020.11:44722465:TT: 32/27386)
Row 123497728 (NC_000020.11:44722465:TTT: 131/27386)
Row 123497729 (NC_000020.11:44722465:T: 7290/27386)...

- Oct 16, 2022 (156)
63 14KJPN

Submission ignored due to conflicting rows:
Row 123497727 (NC_000020.11:44722465:TT: 32/27386)
Row 123497728 (NC_000020.11:44722465:TTT: 131/27386)
Row 123497729 (NC_000020.11:44722465:T: 7290/27386)...

- Oct 16, 2022 (156)
64 14KJPN

Submission ignored due to conflicting rows:
Row 123497727 (NC_000020.11:44722465:TT: 32/27386)
Row 123497728 (NC_000020.11:44722465:TTT: 131/27386)
Row 123497729 (NC_000020.11:44722465:T: 7290/27386)...

- Oct 16, 2022 (156)
65 ALFA NC_000020.11 - 44722466 Apr 27, 2021 (155)
Help

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)
rs35585437 May 11, 2012 (137)
rs71197576 May 11, 2012 (137)
rs72026657 May 11, 2012 (137)
rs35687775 May 11, 2012 (137)
rs71723287 May 11, 2012 (137)
rs71998317 May 11, 2012 (137)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
13253818026 NC_000020.11:44722465:TTTTTTTTTTTT…

NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT

NC_000020.11:44722465:TTTTTTTTTTTT…

NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT

(self)
ss4354023979 NC_000020.11:44722465:TTTTT: NC_000020.11:44722465:TTTTTTTTTTTT…

NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
13253818026 NC_000020.11:44722465:TTTTTTTTTTTT…

NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

NC_000020.11:44722465:TTTTTTTTTTTT…

NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
ss4354023978 NC_000020.11:44722465:TTTT: NC_000020.11:44722465:TTTTTTTTTTTT…

NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss5229811134 NC_000020.10:43351106:TTT: NC_000020.11:44722465:TTTTTTTTTTTT…

NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss3707015460, ss4354023977, ss5308923345, ss5789660624 NC_000020.11:44722465:TTT: NC_000020.11:44722465:TTTTTTTTTTTT…

NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
13253818026 NC_000020.11:44722465:TTTTTTTTTTTT…

NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

NC_000020.11:44722465:TTTTTTTTTTTT…

NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss3018238778, ss3793546169, ss3798433115, ss5229811132 NC_000020.10:43351106:TT: NC_000020.11:44722465:TTTTTTTTTTTT…

NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss4354023976, ss5501189892, ss5789660623 NC_000020.11:44722465:TT: NC_000020.11:44722465:TTTTTTTTTTTT…

NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
13253818026 NC_000020.11:44722465:TTTTTTTTTTTT…

NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

NC_000020.11:44722465:TTTTTTTTTTTT…

NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT

(self)
ss3793546170, ss3798433116, ss3835688895, ss5229811135 NC_000020.10:43351106:T: NC_000020.11:44722465:TTTTTTTTTTTT…

NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
ss4354023975, ss5308923346, ss5501189893, ss5789660625 NC_000020.11:44722465:T: NC_000020.11:44722465:TTTTTTTTTTTT…

NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
13253818026 NC_000020.11:44722465:TTTTTTTTTTTT…

NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

NC_000020.11:44722465:TTTTTTTTTTTT…

NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
ss3707015463 NC_000020.11:44722467:T: NC_000020.11:44722465:TTTTTTTTTTTT…

NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
ss41383677 NT_011362.10:13547217:T: NC_000020.11:44722465:TTTTTTTTTTTT…

NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
ss295049769 NC_000020.9:42784521::T NC_000020.11:44722465:TTTTTTTTTTTT…

NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss295049770 NC_000020.9:42784540::T NC_000020.11:44722465:TTTTTTTTTTTT…

NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss664477342, ss5229811133 NC_000020.10:43351106::T NC_000020.11:44722465:TTTTTTTTTTTT…

NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss4354023968, ss5501189891, ss5789660626 NC_000020.11:44722465::T NC_000020.11:44722465:TTTTTTTTTTTT…

NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
13253818026 NC_000020.11:44722465:TTTTTTTTTTTT…

NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

NC_000020.11:44722465:TTTTTTTTTTTT…

NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss41398634 NT_011362.10:13547217::T NC_000020.11:44722465:TTTTTTTTTTTT…

NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss95740878 NT_011362.10:13547218::T NC_000020.11:44722465:TTTTTTTTTTTT…

NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss5229811136 NC_000020.10:43351106::TT NC_000020.11:44722465:TTTTTTTTTTTT…

NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
ss4354023969, ss5501189894, ss5789660627 NC_000020.11:44722465::TT NC_000020.11:44722465:TTTTTTTTTTTT…

NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
13253818026 NC_000020.11:44722465:TTTTTTTTTTTT…

NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

NC_000020.11:44722465:TTTTTTTTTTTT…

NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
ss3707015464 NC_000020.11:44722468::TT NC_000020.11:44722465:TTTTTTTTTTTT…

NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
ss96247796 NT_011362.10:13547200:T:TTT NC_000020.11:44722465:TTTTTTTTTTTT…

NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT

(self)
ss4354023970 NC_000020.11:44722465::TTT NC_000020.11:44722465:TTTTTTTTTTTT…

NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
13253818026 NC_000020.11:44722465:TTTTTTTTTTTT…

NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

NC_000020.11:44722465:TTTTTTTTTTTT…

NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4354023971 NC_000020.11:44722465::TTTT NC_000020.11:44722465:TTTTTTTTTTTT…

NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4354023972 NC_000020.11:44722465::TTTTT NC_000020.11:44722465:TTTTTTTTTTTT…

NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT

(self)
ss4354023973 NC_000020.11:44722465::TTTTTTT NC_000020.11:44722465:TTTTTTTTTTTT…

NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT

(self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss3361386994 NC_000020.11:44722465:TTTTTTTTTT: NC_000020.11:44722465:TTTTTTTTTTTT…

NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT

Help

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

No publications for rs11341536

Help

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.

Software version is: 2.0.1.post820+afb47a3d