Name: rs143248516
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.

rs143248516

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr21:33432891-33432903 (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)₄ / delTTT / delTT / delT / …
del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT
Variation Type: Indel Insertion and Deletion
Frequency: delTTT=0.000004 (1/264690, TOPMED)
del(T)₄=0.00000 (0/10536, ALFA)
delTTT=0.00000 (0/10536, ALFA) (+ 9 more)
delTT=0.00000 (0/10536, ALFA)
delT=0.00000 (0/10536, ALFA)
dupT=0.00000 (0/10536, ALFA)
dupTT=0.00000 (0/10536, ALFA)
dupTTT=0.00000 (0/10536, ALFA)
dupTTT=0.0056 (28/5008, 1000G)
dupT=0.177 (100/564, NorthernSweden)
(T)₁₃=0.5 (4/8, KOREAN)
dupT=0.5 (4/8, KOREAN)

Clinical Significance: Reported in ClinVar
Gene : Consequence: TMEM50B : Intron Variant
IFNGR2 : Intron Variant
Publications: 0 citations
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	HWEP
Total	Global	10536	TTTTTTTTTTTTT=1.00000	TTTTTTTTT=0.00000, TTTTTTTTTT=0.00000, TTTTTTTTTTT=0.00000, TTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.00000	1.0	N/A
European	Sub	6882	TTTTTTTTTTTTT=1.0000	TTTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000	1.0	N/A
African	Sub	2624	TTTTTTTTTTTTT=1.0000	TTTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000	1.0	N/A
African Others	Sub	112	TTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000	1.0	N/A
African American	Sub	2512	TTTTTTTTTTTTT=1.0000	TTTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000	1.0	N/A
Asian	Sub	84	TTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00	1.0	N/A
East Asian	Sub	62	TTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00	1.0	N/A
Other Asian	Sub	22	TTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00	1.0	N/A
Latin American 1	Sub	98	TTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00	1.0	N/A
Latin American 2	Sub	416	TTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000	1.0	N/A
South Asian	Sub	66	TTTTTTTTTTTTT=1.00	TTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00	1.0	N/A
Other	Sub	366	TTTTTTTTTTTTT=1.000	TTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000	1.0	N/A

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

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	(T)₁₃=0.999996	delTTT=0.000004
Allele Frequency Aggregator	Total	Global	10536	(T)₁₃=1.00000	del(T)₄=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.00000, dupT=0.00000, dupTT=0.00000, dupTTT=0.00000
Allele Frequency Aggregator	European	Sub	6882	(T)₁₃=1.0000	del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000
Allele Frequency Aggregator	African	Sub	2624	(T)₁₃=1.0000	del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	416	(T)₁₃=1.000	del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000
Allele Frequency Aggregator	Other	Sub	366	(T)₁₃=1.000	del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000
Allele Frequency Aggregator	Latin American 1	Sub	98	(T)₁₃=1.00	del(T)₄=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	84	(T)₁₃=1.00	del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00
Allele Frequency Aggregator	South Asian	Sub	66	(T)₁₃=1.00	del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00
1000Genomes	Global	Study-wide	5008	- No frequency provided	dupTTT=0.0056
1000Genomes	African	Sub	1322	- No frequency provided	dupTTT=0.0121
1000Genomes	East Asian	Sub	1008	- No frequency provided	dupTTT=0.0000
1000Genomes	Europe	Sub	1006	- No frequency provided	dupTTT=0.0040
1000Genomes	South Asian	Sub	978	- No frequency provided	dupTTT=0.008
1000Genomes	American	Sub	694	- No frequency provided	dupTTT=0.000
Northern Sweden	ACPOP	Study-wide	564	- No frequency provided	dupT=0.177
KOREAN population from KRGDB	KOREAN	Study-wide	8	- No frequency provided	dupT=0.5

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.33432900_33432903del
GRCh38.p14 chr 21	NC_000021.9:g.33432901_33432903del
GRCh38.p14 chr 21	NC_000021.9:g.33432902_33432903del
GRCh38.p14 chr 21	NC_000021.9:g.33432903del
GRCh38.p14 chr 21	NC_000021.9:g.33432903dup
GRCh38.p14 chr 21	NC_000021.9:g.33432902_33432903dup
GRCh38.p14 chr 21	NC_000021.9:g.33432901_33432903dup
GRCh37.p13 chr 21	NC_000021.8:g.34805207_34805210del
GRCh37.p13 chr 21	NC_000021.8:g.34805208_34805210del
GRCh37.p13 chr 21	NC_000021.8:g.34805209_34805210del
GRCh37.p13 chr 21	NC_000021.8:g.34805210del
GRCh37.p13 chr 21	NC_000021.8:g.34805210dup
GRCh37.p13 chr 21	NC_000021.8:g.34805209_34805210dup
GRCh37.p13 chr 21	NC_000021.8:g.34805208_34805210dup
IFNGR2 RefSeqGene (LRG_67)	NG_007570.2:g.52909_52912del
IFNGR2 RefSeqGene (LRG_67)	NG_007570.2:g.52910_52912del
IFNGR2 RefSeqGene (LRG_67)	NG_007570.2:g.52911_52912del
IFNGR2 RefSeqGene (LRG_67)	NG_007570.2:g.52912del
IFNGR2 RefSeqGene (LRG_67)	NG_007570.2:g.52912dup
IFNGR2 RefSeqGene (LRG_67)	NG_007570.2:g.52911_52912dup
IFNGR2 RefSeqGene (LRG_67)	NG_007570.2:g.52910_52912dup
GRCh38.p14 chr 21 alt locus HSCHR21_4_CTG1_1	NW_003315970.2:g.27472_27475del
GRCh38.p14 chr 21 alt locus HSCHR21_4_CTG1_1	NW_003315970.2:g.27473_27475del
GRCh38.p14 chr 21 alt locus HSCHR21_4_CTG1_1	NW_003315970.2:g.27474_27475del
GRCh38.p14 chr 21 alt locus HSCHR21_4_CTG1_1	NW_003315970.2:g.27475del
GRCh38.p14 chr 21 alt locus HSCHR21_4_CTG1_1	NW_003315970.2:g.27475dup
GRCh38.p14 chr 21 alt locus HSCHR21_4_CTG1_1	NW_003315970.2:g.27474_27475dup
GRCh38.p14 chr 21 alt locus HSCHR21_4_CTG1_1	NW_003315970.2:g.27473_27475dup
GRCh37.p13 chr 21 novel patch HSCHR21_4_CTG1_1	NW_003315970.1:g.27473_27476del
GRCh37.p13 chr 21 novel patch HSCHR21_4_CTG1_1	NW_003315970.1:g.27474_27476del
GRCh37.p13 chr 21 novel patch HSCHR21_4_CTG1_1	NW_003315970.1:g.27475_27476del
GRCh37.p13 chr 21 novel patch HSCHR21_4_CTG1_1	NW_003315970.1:g.27476del
GRCh37.p13 chr 21 novel patch HSCHR21_4_CTG1_1	NW_003315970.1:g.27476dup
GRCh37.p13 chr 21 novel patch HSCHR21_4_CTG1_1	NW_003315970.1:g.27475_27476dup
GRCh37.p13 chr 21 novel patch HSCHR21_4_CTG1_1	NW_003315970.1:g.27474_27476dup

Gene: IFNGR2, interferon gamma receptor 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
IFNGR2 transcript variant 1	NM_001329128.2:c.936+29_9… NM_001329128.2:c.936+29_936+32del	N/A	Intron Variant
IFNGR2 transcript variant 2	NM_005534.4:c.879+29_879+… NM_005534.4:c.879+29_879+32del	N/A	Intron Variant

Gene: TMEM50B, transmembrane protein 50B (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TMEM50B transcript variant 1	NM_006134.7:c.	N/A	Genic Downstream Transcript Variant
TMEM50B transcript variant 2	NR_040016.2:n.	N/A	Intron Variant
TMEM50B transcript variant X1	XM_011529746.3:c.2231-92… XM_011529746.3:c.2231-92_*2231-89del	N/A	Intron Variant
TMEM50B transcript variant X2	XM_047440988.1:c.	N/A	Genic Downstream Transcript Variant
TMEM50B transcript variant X3	XM_047440989.1:c.	N/A	Genic Downstream 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.

Allele: delT (allele ID: 1632074 )

ClinVar Accession	Disease Names	Clinical Significance
RCV002132415.3	Immunodeficiency 28	Benign

Allele: dupT (allele ID: 1158982 )

ClinVar Accession	Disease Names	Clinical Significance
RCV001522274.4	Immunodeficiency 28	Benign

Allele: dupTT (allele ID: 1530960 )

ClinVar Accession	Disease Names	Clinical Significance
RCV002132990.3	Immunodeficiency 28	Benign

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)₁₃=	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT
GRCh38.p14 chr 21	NC_000021.9:g.33432891_33432903=	NC_000021.9:g.33432900_33432903del	NC_000021.9:g.33432901_33432903del	NC_000021.9:g.33432902_33432903del	NC_000021.9:g.33432903del	NC_000021.9:g.33432903dup	NC_000021.9:g.33432902_33432903dup	NC_000021.9:g.33432901_33432903dup
GRCh37.p13 chr 21	NC_000021.8:g.34805198_34805210=	NC_000021.8:g.34805207_34805210del	NC_000021.8:g.34805208_34805210del	NC_000021.8:g.34805209_34805210del	NC_000021.8:g.34805210del	NC_000021.8:g.34805210dup	NC_000021.8:g.34805209_34805210dup	NC_000021.8:g.34805208_34805210dup
IFNGR2 RefSeqGene (LRG_67)	NG_007570.2:g.52900_52912=	NG_007570.2:g.52909_52912del	NG_007570.2:g.52910_52912del	NG_007570.2:g.52911_52912del	NG_007570.2:g.52912del	NG_007570.2:g.52912dup	NG_007570.2:g.52911_52912dup	NG_007570.2:g.52910_52912dup
GRCh38.p14 chr 21 alt locus HSCHR21_4_CTG1_1	NW_003315970.2:g.27463_27475=	NW_003315970.2:g.27472_27475del	NW_003315970.2:g.27473_27475del	NW_003315970.2:g.27474_27475del	NW_003315970.2:g.27475del	NW_003315970.2:g.27475dup	NW_003315970.2:g.27474_27475dup	NW_003315970.2:g.27473_27475dup
GRCh37.p13 chr 21 novel patch HSCHR21_4_CTG1_1	NW_003315970.1:g.27464_27476=	NW_003315970.1:g.27473_27476del	NW_003315970.1:g.27474_27476del	NW_003315970.1:g.27475_27476del	NW_003315970.1:g.27476del	NW_003315970.1:g.27476dup	NW_003315970.1:g.27475_27476dup	NW_003315970.1:g.27474_27476dup
IFNGR2 transcript variant 1	NM_001329128.2:c.936+20=	NM_001329128.2:c.936+29_936+32del	NM_001329128.2:c.936+30_936+32del	NM_001329128.2:c.936+31_936+32del	NM_001329128.2:c.936+32del	NM_001329128.2:c.936+32dup	NM_001329128.2:c.936+31_936+32dup	NM_001329128.2:c.936+30_936+32dup
IFNGR2 transcript variant 2	NM_005534.3:c.879+20=	NM_005534.3:c.879+29_879+32del	NM_005534.3:c.879+30_879+32del	NM_005534.3:c.879+31_879+32del	NM_005534.3:c.879+32del	NM_005534.3:c.879+32dup	NM_005534.3:c.879+31_879+32dup	NM_005534.3:c.879+30_879+32dup
IFNGR2 transcript variant 2	NM_005534.4:c.879+20=	NM_005534.4:c.879+29_879+32del	NM_005534.4:c.879+30_879+32del	NM_005534.4:c.879+31_879+32del	NM_005534.4:c.879+32del	NM_005534.4:c.879+32dup	NM_005534.4:c.879+31_879+32dup	NM_005534.4:c.879+30_879+32dup
IFNGR2 transcript variant X1	XM_005260969.1:c.936+20=	XM_005260969.1:c.936+29_936+32del	XM_005260969.1:c.936+30_936+32del	XM_005260969.1:c.936+31_936+32del	XM_005260969.1:c.936+32del	XM_005260969.1:c.936+32dup	XM_005260969.1:c.936+31_936+32dup	XM_005260969.1:c.936+30_936+32dup
TMEM50B transcript variant X1	XM_011529746.3:c.*2231-89=	XM_011529746.3:c.2231-92_2231-89del	XM_011529746.3:c.2231-91_2231-89del	XM_011529746.3:c.2231-90_2231-89del	XM_011529746.3:c.*2231-89del	XM_011529746.3:c.*2231-89dup	XM_011529746.3:c.2231-90_2231-89dup	XM_011529746.3:c.2231-91_2231-89dup

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#.

38 SubSNP, 22 Frequency, 3 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	BL	ss256198045	May 09, 2011 (134)
2	GMI	ss289433039	May 04, 2012 (137)
3	SSMP	ss664505121	Apr 01, 2015 (144)
4	WARNICH_LAB	ss678443544	Apr 25, 2013 (138)
5	1000GENOMES	ss1378770693	Aug 21, 2014 (142)
6	EVA_EXAC	ss1712237379	Jan 10, 2018 (151)
7	EVA_EXAC	ss1712237380	Apr 01, 2015 (144)
8	EVA_EXAC	ss1712237381	Apr 01, 2015 (144)
9	EVA_EXAC	ss1712237382	Apr 01, 2015 (144)
10	EVA_EXAC	ss1712237383	Apr 01, 2015 (144)
11	TMC_SNPDB	ss1997145982	Jul 19, 2016 (147)
12	SYSTEMSBIOZJU	ss2629543263	Nov 08, 2017 (151)
13	SWEGEN	ss3018839973	Nov 08, 2017 (151)
14	SWEGEN	ss3018839974	Nov 08, 2017 (151)
15	EVA_DECODE	ss3707668799	Jul 13, 2019 (153)
16	EVA_DECODE	ss3707668800	Jul 13, 2019 (153)
17	EVA_DECODE	ss3707668801	Jul 13, 2019 (153)
18	ACPOP	ss3743703363	Jul 13, 2019 (153)
19	KRGDB	ss3940290956	Apr 27, 2020 (154)
20	GNOMAD	ss4359813358	Apr 26, 2021 (155)
21	GNOMAD	ss4359813359	Apr 26, 2021 (155)
22	GNOMAD	ss4359813360	Apr 26, 2021 (155)
23	GNOMAD	ss4359813361	Apr 26, 2021 (155)
24	GNOMAD	ss4359813362	Apr 26, 2021 (155)
25	GNOMAD	ss4359813363	Apr 26, 2021 (155)
26	GNOMAD	ss4359813364	Apr 26, 2021 (155)
27	TOPMED	ss5100583552	Apr 26, 2021 (155)
28	TOMMO_GENOMICS	ss5231392701	Apr 26, 2021 (155)
29	TOMMO_GENOMICS	ss5231392702	Apr 26, 2021 (155)
30	TOMMO_GENOMICS	ss5231392703	Apr 26, 2021 (155)
31	1000G_HIGH_COVERAGE	ss5310111548	Oct 13, 2022 (156)
32	HUGCELL_USP	ss5502168500	Oct 13, 2022 (156)
33	HUGCELL_USP	ss5502168501	Oct 13, 2022 (156)
34	TOMMO_GENOMICS	ss5791868414	Oct 13, 2022 (156)
35	TOMMO_GENOMICS	ss5791868415	Oct 13, 2022 (156)
36	EVA	ss5800232132	Oct 13, 2022 (156)
37	EVA	ss5838996654	Oct 13, 2022 (156)
38	EVA	ss5936437517	Oct 13, 2022 (156)
39	1000Genomes	NC_000021.8 - 34805198	Oct 12, 2018 (152)
40	ExAC Submission ignored due to conflicting rows: Row 5697993 (NC_000021.8:34805197:TT: 141/63272) Row 5697994 (NC_000021.8:34805197:T: 3927/63272) Row 5697995 (NC_000021.8:34805197::T 9882/63272) Row 5697996 (NC_000021.8:34805197::TT 291/63272) Row 5697997 (NC_000021.8:34805197::TTT 10/63272)	-	Oct 12, 2018 (152)
41	ExAC Submission ignored due to conflicting rows: Row 5697993 (NC_000021.8:34805197:TT: 141/63272) Row 5697994 (NC_000021.8:34805197:T: 3927/63272) Row 5697995 (NC_000021.8:34805197::T 9882/63272) Row 5697996 (NC_000021.8:34805197::TT 291/63272) Row 5697997 (NC_000021.8:34805197::TTT 10/63272)	-	Oct 12, 2018 (152)
42	ExAC Submission ignored due to conflicting rows: Row 5697993 (NC_000021.8:34805197:TT: 141/63272) Row 5697994 (NC_000021.8:34805197:T: 3927/63272) Row 5697995 (NC_000021.8:34805197::T 9882/63272) Row 5697996 (NC_000021.8:34805197::TT 291/63272) Row 5697997 (NC_000021.8:34805197::TTT 10/63272)	-	Oct 12, 2018 (152)
43	ExAC Submission ignored due to conflicting rows: Row 5697993 (NC_000021.8:34805197:TT: 141/63272) Row 5697994 (NC_000021.8:34805197:T: 3927/63272) Row 5697995 (NC_000021.8:34805197::T 9882/63272) Row 5697996 (NC_000021.8:34805197::TT 291/63272) Row 5697997 (NC_000021.8:34805197::TTT 10/63272)	-	Oct 12, 2018 (152)
44	ExAC Submission ignored due to conflicting rows: Row 5697993 (NC_000021.8:34805197:TT: 141/63272) Row 5697994 (NC_000021.8:34805197:T: 3927/63272) Row 5697995 (NC_000021.8:34805197::T 9882/63272) Row 5697996 (NC_000021.8:34805197::TT 291/63272) Row 5697997 (NC_000021.8:34805197::TTT 10/63272)	-	Oct 12, 2018 (152)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 562343679 (NC_000021.9:33432890::T 21920/136070) Row 562343680 (NC_000021.9:33432890::TT 52/136196) Row 562343681 (NC_000021.9:33432890::TTT 3/136216)...	-	Apr 26, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 562343679 (NC_000021.9:33432890::T 21920/136070) Row 562343680 (NC_000021.9:33432890::TT 52/136196) Row 562343681 (NC_000021.9:33432890::TTT 3/136216)...	-	Apr 26, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 562343679 (NC_000021.9:33432890::T 21920/136070) Row 562343680 (NC_000021.9:33432890::TT 52/136196) Row 562343681 (NC_000021.9:33432890::TTT 3/136216)...	-	Apr 26, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 562343679 (NC_000021.9:33432890::T 21920/136070) Row 562343680 (NC_000021.9:33432890::TT 52/136196) Row 562343681 (NC_000021.9:33432890::TTT 3/136216)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 562343679 (NC_000021.9:33432890::T 21920/136070) Row 562343680 (NC_000021.9:33432890::TT 52/136196) Row 562343681 (NC_000021.9:33432890::TTT 3/136216)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 562343679 (NC_000021.9:33432890::T 21920/136070) Row 562343680 (NC_000021.9:33432890::TT 52/136196) Row 562343681 (NC_000021.9:33432890::TTT 3/136216)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 562343679 (NC_000021.9:33432890::T 21920/136070) Row 562343680 (NC_000021.9:33432890::TT 52/136196) Row 562343681 (NC_000021.9:33432890::TTT 3/136216)...	-	Apr 26, 2021 (155)
52	KOREAN population from KRGDB	NC_000021.8 - 34805198	Apr 27, 2020 (154)
53	Northern Sweden	NC_000021.8 - 34805198	Jul 13, 2019 (153)
54	8.3KJPN Submission ignored due to conflicting rows: Row 89362008 (NC_000021.8:34805197::T 2368/16756) Row 89362009 (NC_000021.8:34805197::TT 71/16756) Row 89362010 (NC_000021.8:34805197:TTT: 1/16756)	-	Apr 26, 2021 (155)
55	8.3KJPN Submission ignored due to conflicting rows: Row 89362008 (NC_000021.8:34805197::T 2368/16756) Row 89362009 (NC_000021.8:34805197::TT 71/16756) Row 89362010 (NC_000021.8:34805197:TTT: 1/16756)	-	Apr 26, 2021 (155)
56	8.3KJPN Submission ignored due to conflicting rows: Row 89362008 (NC_000021.8:34805197::T 2368/16756) Row 89362009 (NC_000021.8:34805197::TT 71/16756) Row 89362010 (NC_000021.8:34805197:TTT: 1/16756)	-	Apr 26, 2021 (155)
57	14KJPN Submission ignored due to conflicting rows: Row 125705518 (NC_000021.9:33432890::T 4129/28258) Row 125705519 (NC_000021.9:33432890::TT 119/28258)	-	Oct 13, 2022 (156)
58	14KJPN Submission ignored due to conflicting rows: Row 125705518 (NC_000021.9:33432890::T 4129/28258) Row 125705519 (NC_000021.9:33432890::TT 119/28258)	-	Oct 13, 2022 (156)
59	TopMed	NC_000021.9 - 33432891	Apr 26, 2021 (155)
60	ALFA	NC_000021.9 - 33432891	Apr 26, 2021 (155)
61	ClinVar	RCV001522274.4	Oct 13, 2022 (156)
62	ClinVar	RCV002132415.3	Oct 13, 2022 (156)
63	ClinVar	RCV002132990.3	Oct 13, 2022 (156)

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

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4359813364	NC_000021.9:33432890:TTTT:	NC_000021.9:33432890:TTTTTTTTTTTTT… NC_000021.9:33432890:TTTTTTTTTTTTT:TTTTTTTTT	(self)
3648235141	NC_000021.9:33432890:TTTTTTTTTTTTT… NC_000021.9:33432890:TTTTTTTTTTTTT:TTTTTTTTT	NC_000021.9:33432890:TTTTTTTTTTTTT… NC_000021.9:33432890:TTTTTTTTTTTTT:TTTTTTTTT	(self)
ss5231392703	NC_000021.8:34805197:TTT:	NC_000021.9:33432890:TTTTTTTTTTTTT… NC_000021.9:33432890:TTTTTTTTTTTTT:TTTTTTTTTT	(self)
375692498, ss4359813363, ss5100583552	NC_000021.9:33432890:TTT:	NC_000021.9:33432890:TTTTTTTTTTTTT… NC_000021.9:33432890:TTTTTTTTTTTTT:TTTTTTTTTT	(self)
3648235141	NC_000021.9:33432890:TTTTTTTTTTTTT… NC_000021.9:33432890:TTTTTTTTTTTTT:TTTTTTTTTT	NC_000021.9:33432890:TTTTTTTTTTTTT… NC_000021.9:33432890:TTTTTTTTTTTTT:TTTTTTTTTT	(self)
ss1712237379	NC_000021.8:34805197:TT:	NC_000021.9:33432890:TTTTTTTTTTTTT… NC_000021.9:33432890:TTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss4359813362	NC_000021.9:33432890:TT:	NC_000021.9:33432890:TTTTTTTTTTTTT… NC_000021.9:33432890:TTTTTTTTTTTTT:TTTTTTTTTTT	(self)
3648235141	NC_000021.9:33432890:TTTTTTTTTTTTT… NC_000021.9:33432890:TTTTTTTTTTTTT:TTTTTTTTTTT	NC_000021.9:33432890:TTTTTTTTTTTTT… NC_000021.9:33432890:TTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss1712237380, ss1997145982, ss5800232132, ss5936437517	NC_000021.8:34805197:T:	NC_000021.9:33432890:TTTTTTTTTTTTT… NC_000021.9:33432890:TTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss3707668799, ss4359813361, ss5502168500	NC_000021.9:33432890:T:	NC_000021.9:33432890:TTTTTTTTTTTTT… NC_000021.9:33432890:TTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
RCV002132415.3, 3648235141	NC_000021.9:33432890:TTTTTTTTTTTTT… NC_000021.9:33432890:TTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000021.9:33432890:TTTTTTTTTTTTT… NC_000021.9:33432890:TTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss256198045	NC_000021.7:33727067::T	NC_000021.9:33432890:TTTTTTTTTTTTT… NC_000021.9:33432890:TTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss289433039	NC_000021.7:33727080::T	NC_000021.9:33432890:TTTTTTTTTTTTT… NC_000021.9:33432890:TTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
47468350, 16988228, ss664505121, ss678443544, ss1712237381, ss2629543263, ss3018839973, ss3743703363, ss3940290956, ss5231392701, ss5838996654	NC_000021.8:34805197::T	NC_000021.9:33432890:TTTTTTTTTTTTT… NC_000021.9:33432890:TTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss4359813358, ss5310111548, ss5502168501, ss5791868414	NC_000021.9:33432890::T	NC_000021.9:33432890:TTTTTTTTTTTTT… NC_000021.9:33432890:TTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
RCV001522274.4, 3648235141	NC_000021.9:33432890:TTTTTTTTTTTTT… NC_000021.9:33432890:TTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000021.9:33432890:TTTTTTTTTTTTT… NC_000021.9:33432890:TTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss3707668800	NC_000021.9:33432891::T	NC_000021.9:33432890:TTTTTTTTTTTTT… NC_000021.9:33432890:TTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss1712237382, ss3018839974, ss5231392702	NC_000021.8:34805197::TT	NC_000021.9:33432890:TTTTTTTTTTTTT… NC_000021.9:33432890:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss4359813359, ss5791868415	NC_000021.9:33432890::TT	NC_000021.9:33432890:TTTTTTTTTTTTT… NC_000021.9:33432890:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
RCV002132990.3, 3648235141	NC_000021.9:33432890:TTTTTTTTTTTTT… NC_000021.9:33432890:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000021.9:33432890:TTTTTTTTTTTTT… NC_000021.9:33432890:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3707668801	NC_000021.9:33432891::TT	NC_000021.9:33432890:TTTTTTTTTTTTT… NC_000021.9:33432890:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
79677908, ss1378770693, ss1712237383	NC_000021.8:34805197::TTT	NC_000021.9:33432890:TTTTTTTTTTTTT… NC_000021.9:33432890:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4359813360	NC_000021.9:33432890::TTT	NC_000021.9:33432890:TTTTTTTTTTTTT… NC_000021.9:33432890:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
3648235141	NC_000021.9:33432890:TTTTTTTTTTTTT… NC_000021.9:33432890:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000021.9:33432890:TTTTTTTTTTTTT… NC_000021.9:33432890:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(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 rs143248516

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

rs143248516