Name: rs5857683
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.

rs5857683

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr4:39522765-39522781 (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 / dup(T)₈
Variation Type: Indel Insertion and Deletion
Frequency: delT=0.02514 (322/12806, ALFA)
delT=0.2937 (1471/5008, 1000G)
delT=0.33 (13/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: UGDH : 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	12806	TTTTTTTTTTTTTTTTT=0.96900	TTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.02514, TTTTTTTTTTTTTTTTTT=0.00562, TTTTTTTTTTTTTTTTTTTT=0.00023, TTTTTTTTTTTTTTTTTTT=0.00000	0.952772	0.002369	0.044859	18
European	Sub	11028	TTTTTTTTTTTTTTTTT=0.96418	TTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.02902, TTTTTTTTTTTTTTTTTT=0.00653, TTTTTTTTTTTTTTTTTTTT=0.00027, TTTTTTTTTTTTTTTTTTT=0.00000	0.945424	0.002756	0.051819	15
African	Sub	806	TTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	30	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	776	TTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	60	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	48	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	12	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	102	TTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Latin American 2	Sub	444	TTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	76	TTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	290	TTTTTTTTTTTTTTTTT=0.993	TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.007, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000	0.986207	0.0	0.013793	0

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
Allele Frequency Aggregator	Total	Global	12806	(T)₁₇=0.96900	del(T)₄=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.02514, dupT=0.00562, dupTT=0.00000, dupTTT=0.00023
Allele Frequency Aggregator	European	Sub	11028	(T)₁₇=0.96418	del(T)₄=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.02902, dupT=0.00653, dupTT=0.00000, dupTTT=0.00027
Allele Frequency Aggregator	African	Sub	806	(T)₁₇=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 2	Sub	444	(T)₁₇=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	290	(T)₁₇=0.993	del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.007, dupT=0.000, dupTT=0.000, dupTTT=0.000
Allele Frequency Aggregator	Latin American 1	Sub	102	(T)₁₇=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	South Asian	Sub	76	(T)₁₇=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	60	(T)₁₇=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	(T)₁₇=0.7063	delT=0.2937
1000Genomes	African	Sub	1322	(T)₁₇=0.5030	delT=0.4970
1000Genomes	East Asian	Sub	1008	(T)₁₇=0.6835	delT=0.3165
1000Genomes	Europe	Sub	1006	(T)₁₇=0.8499	delT=0.1501
1000Genomes	South Asian	Sub	978	(T)₁₇=0.811	delT=0.189
1000Genomes	American	Sub	694	(T)₁₇=0.771	delT=0.229
The Danish reference pan genome	Danish	Study-wide	40	(T)₁₇=0.68	delT=0.33

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 4	NC_000004.12:g.39522778_39522781del
GRCh38.p14 chr 4	NC_000004.12:g.39522779_39522781del
GRCh38.p14 chr 4	NC_000004.12:g.39522780_39522781del
GRCh38.p14 chr 4	NC_000004.12:g.39522781del
GRCh38.p14 chr 4	NC_000004.12:g.39522781dup
GRCh38.p14 chr 4	NC_000004.12:g.39522780_39522781dup
GRCh38.p14 chr 4	NC_000004.12:g.39522779_39522781dup
GRCh38.p14 chr 4	NC_000004.12:g.39522774_39522781dup
GRCh37.p13 chr 4	NC_000004.11:g.39524398_39524401del
GRCh37.p13 chr 4	NC_000004.11:g.39524399_39524401del
GRCh37.p13 chr 4	NC_000004.11:g.39524400_39524401del
GRCh37.p13 chr 4	NC_000004.11:g.39524401del
GRCh37.p13 chr 4	NC_000004.11:g.39524401dup
GRCh37.p13 chr 4	NC_000004.11:g.39524400_39524401dup
GRCh37.p13 chr 4	NC_000004.11:g.39524399_39524401dup
GRCh37.p13 chr 4	NC_000004.11:g.39524394_39524401dup

Gene: UGDH, UDP-glucose 6-dehydrogenase (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
UGDH transcript variant 2	NM_001184700.2:c.-7-1249_… NM_001184700.2:c.-7-1249_-7-1246del	N/A	Intron Variant
UGDH transcript variant 3	NM_001184701.2:c.-130+451… NM_001184701.2:c.-130+4515_-130+4518del	N/A	Intron Variant
UGDH transcript variant 1	NM_003359.4:c.-7-1249_-7-… NM_003359.4:c.-7-1249_-7-1246del	N/A	Intron Variant
UGDH transcript variant X1	XM_005262667.4:c.33-1249_… XM_005262667.4:c.33-1249_33-1246del	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	(T)₁₇=	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₈
GRCh38.p14 chr 4	NC_000004.12:g.39522765_39522781=	NC_000004.12:g.39522778_39522781del	NC_000004.12:g.39522779_39522781del	NC_000004.12:g.39522780_39522781del	NC_000004.12:g.39522781del	NC_000004.12:g.39522781dup	NC_000004.12:g.39522780_39522781dup	NC_000004.12:g.39522779_39522781dup	NC_000004.12:g.39522774_39522781dup
GRCh37.p13 chr 4	NC_000004.11:g.39524385_39524401=	NC_000004.11:g.39524398_39524401del	NC_000004.11:g.39524399_39524401del	NC_000004.11:g.39524400_39524401del	NC_000004.11:g.39524401del	NC_000004.11:g.39524401dup	NC_000004.11:g.39524400_39524401dup	NC_000004.11:g.39524399_39524401dup	NC_000004.11:g.39524394_39524401dup
UGDH transcript variant 2	NM_001184700.1:c.-7-1246=	NM_001184700.1:c.-7-1249_-7-1246del	NM_001184700.1:c.-7-1248_-7-1246del	NM_001184700.1:c.-7-1247_-7-1246del	NM_001184700.1:c.-7-1246del	NM_001184700.1:c.-7-1246dup	NM_001184700.1:c.-7-1247_-7-1246dup	NM_001184700.1:c.-7-1248_-7-1246dup	NM_001184700.1:c.-7-1253_-7-1246dup
UGDH transcript variant 2	NM_001184700.2:c.-7-1246=	NM_001184700.2:c.-7-1249_-7-1246del	NM_001184700.2:c.-7-1248_-7-1246del	NM_001184700.2:c.-7-1247_-7-1246del	NM_001184700.2:c.-7-1246del	NM_001184700.2:c.-7-1246dup	NM_001184700.2:c.-7-1247_-7-1246dup	NM_001184700.2:c.-7-1248_-7-1246dup	NM_001184700.2:c.-7-1253_-7-1246dup
UGDH transcript variant 3	NM_001184701.1:c.-130+4518=	NM_001184701.1:c.-130+4515_-130+4518del	NM_001184701.1:c.-130+4516_-130+4518del	NM_001184701.1:c.-130+4517_-130+4518del	NM_001184701.1:c.-130+4518del	NM_001184701.1:c.-130+4518dup	NM_001184701.1:c.-130+4517_-130+4518dup	NM_001184701.1:c.-130+4516_-130+4518dup	NM_001184701.1:c.-130+4511_-130+4518dup
UGDH transcript variant 3	NM_001184701.2:c.-130+4518=	NM_001184701.2:c.-130+4515_-130+4518del	NM_001184701.2:c.-130+4516_-130+4518del	NM_001184701.2:c.-130+4517_-130+4518del	NM_001184701.2:c.-130+4518del	NM_001184701.2:c.-130+4518dup	NM_001184701.2:c.-130+4517_-130+4518dup	NM_001184701.2:c.-130+4516_-130+4518dup	NM_001184701.2:c.-130+4511_-130+4518dup
UGDH transcript variant 1	NM_003359.3:c.-7-1246=	NM_003359.3:c.-7-1249_-7-1246del	NM_003359.3:c.-7-1248_-7-1246del	NM_003359.3:c.-7-1247_-7-1246del	NM_003359.3:c.-7-1246del	NM_003359.3:c.-7-1246dup	NM_003359.3:c.-7-1247_-7-1246dup	NM_003359.3:c.-7-1248_-7-1246dup	NM_003359.3:c.-7-1253_-7-1246dup
UGDH transcript variant 1	NM_003359.4:c.-7-1246=	NM_003359.4:c.-7-1249_-7-1246del	NM_003359.4:c.-7-1248_-7-1246del	NM_003359.4:c.-7-1247_-7-1246del	NM_003359.4:c.-7-1246del	NM_003359.4:c.-7-1246dup	NM_003359.4:c.-7-1247_-7-1246dup	NM_003359.4:c.-7-1248_-7-1246dup	NM_003359.4:c.-7-1253_-7-1246dup
UGDH transcript variant X1	XM_005262667.1:c.33-1246=	XM_005262667.1:c.33-1249_33-1246del	XM_005262667.1:c.33-1248_33-1246del	XM_005262667.1:c.33-1247_33-1246del	XM_005262667.1:c.33-1246del	XM_005262667.1:c.33-1246dup	XM_005262667.1:c.33-1247_33-1246dup	XM_005262667.1:c.33-1248_33-1246dup	XM_005262667.1:c.33-1253_33-1246dup
UGDH transcript variant X1	XM_005262667.4:c.33-1246=	XM_005262667.4:c.33-1249_33-1246del	XM_005262667.4:c.33-1248_33-1246del	XM_005262667.4:c.33-1247_33-1246del	XM_005262667.4:c.33-1246del	XM_005262667.4:c.33-1246dup	XM_005262667.4:c.33-1247_33-1246dup	XM_005262667.4:c.33-1248_33-1246dup	XM_005262667.4:c.33-1253_33-1246dup
UGDH transcript variant X2	XM_005262668.1:c.-7-1246=	XM_005262668.1:c.-7-1249_-7-1246del	XM_005262668.1:c.-7-1248_-7-1246del	XM_005262668.1:c.-7-1247_-7-1246del	XM_005262668.1:c.-7-1246del	XM_005262668.1:c.-7-1246dup	XM_005262668.1:c.-7-1247_-7-1246dup	XM_005262668.1:c.-7-1248_-7-1246dup	XM_005262668.1:c.-7-1253_-7-1246dup

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#.

36 SubSNP, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCMHGSC_JDW	ss103687502	Mar 15, 2016 (147)
2	GMI	ss288510491	May 04, 2012 (137)
3	1000GENOMES	ss1372056229	Aug 21, 2014 (142)
4	EVA_GENOME_DK	ss1576212168	Apr 01, 2015 (144)
5	SWEGEN	ss2994491811	Nov 08, 2017 (151)
6	MCHAISSO	ss3064963369	Nov 08, 2017 (151)
7	MCHAISSO	ss3065944142	Nov 08, 2017 (151)
8	ACPOP	ss3731055942	Jul 13, 2019 (153)
9	ACPOP	ss3731055943	Jul 13, 2019 (153)
10	PACBIO	ss3784681523	Jul 13, 2019 (153)
11	KHV_HUMAN_GENOMES	ss3804805324	Jul 13, 2019 (153)
12	EVA	ss3828485835	Apr 26, 2020 (154)
13	EVA	ss3837679380	Apr 26, 2020 (154)
14	EVA	ss3843114425	Apr 26, 2020 (154)
15	KOGIC	ss3953927270	Apr 26, 2020 (154)
16	KOGIC	ss3953927271	Apr 26, 2020 (154)
17	KOGIC	ss3953927272	Apr 26, 2020 (154)
18	GNOMAD	ss4094264470	Apr 26, 2021 (155)
19	GNOMAD	ss4094264471	Apr 26, 2021 (155)
20	GNOMAD	ss4094264472	Apr 26, 2021 (155)
21	GNOMAD	ss4094264473	Apr 26, 2021 (155)
22	GNOMAD	ss4094264474	Apr 26, 2021 (155)
23	GNOMAD	ss4094264475	Apr 26, 2021 (155)
24	GNOMAD	ss4094264476	Apr 26, 2021 (155)
25	TOMMO_GENOMICS	ss5165162819	Apr 26, 2021 (155)
26	TOMMO_GENOMICS	ss5165162820	Apr 26, 2021 (155)
27	TOMMO_GENOMICS	ss5165162821	Apr 26, 2021 (155)
28	1000G_HIGH_COVERAGE	ss5258807594	Oct 13, 2022 (156)
29	1000G_HIGH_COVERAGE	ss5258807595	Oct 13, 2022 (156)
30	1000G_HIGH_COVERAGE	ss5258807596	Oct 13, 2022 (156)
31	HUGCELL_USP	ss5457633045	Oct 13, 2022 (156)
32	HUGCELL_USP	ss5457633046	Oct 13, 2022 (156)
33	HUGCELL_USP	ss5457633047	Oct 13, 2022 (156)
34	TOMMO_GENOMICS	ss5699073924	Oct 13, 2022 (156)
35	TOMMO_GENOMICS	ss5699073925	Oct 13, 2022 (156)
36	TOMMO_GENOMICS	ss5699073926	Oct 13, 2022 (156)
37	1000Genomes	NC_000004.11 - 39524385	Oct 12, 2018 (152)
38	The Danish reference pan genome	NC_000004.11 - 39524385	Apr 26, 2020 (154)
39	gnomAD - Genomes Submission ignored due to conflicting rows: Row 146431298 (NC_000004.12:39522764::T 4039/122760) Row 146431299 (NC_000004.12:39522764::TT 7/122798) Row 146431300 (NC_000004.12:39522764::TTT 1/122800)...	-	Apr 26, 2021 (155)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 146431298 (NC_000004.12:39522764::T 4039/122760) Row 146431299 (NC_000004.12:39522764::TT 7/122798) Row 146431300 (NC_000004.12:39522764::TTT 1/122800)...	-	Apr 26, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 146431298 (NC_000004.12:39522764::T 4039/122760) Row 146431299 (NC_000004.12:39522764::TT 7/122798) Row 146431300 (NC_000004.12:39522764::TTT 1/122800)...	-	Apr 26, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 146431298 (NC_000004.12:39522764::T 4039/122760) Row 146431299 (NC_000004.12:39522764::TT 7/122798) Row 146431300 (NC_000004.12:39522764::TTT 1/122800)...	-	Apr 26, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 146431298 (NC_000004.12:39522764::T 4039/122760) Row 146431299 (NC_000004.12:39522764::TT 7/122798) Row 146431300 (NC_000004.12:39522764::TTT 1/122800)...	-	Apr 26, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 146431298 (NC_000004.12:39522764::T 4039/122760) Row 146431299 (NC_000004.12:39522764::TT 7/122798) Row 146431300 (NC_000004.12:39522764::TTT 1/122800)...	-	Apr 26, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 146431298 (NC_000004.12:39522764::T 4039/122760) Row 146431299 (NC_000004.12:39522764::TT 7/122798) Row 146431300 (NC_000004.12:39522764::TTT 1/122800)...	-	Apr 26, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 146431298 (NC_000004.12:39522764::T 4039/122760) Row 146431299 (NC_000004.12:39522764::TT 7/122798) Row 146431300 (NC_000004.12:39522764::TTT 1/122800)...	-	Apr 26, 2021 (155)
47	Korean Genome Project Submission ignored due to conflicting rows: Row 10305271 (NC_000004.12:39522764:TT: 31/1832) Row 10305272 (NC_000004.12:39522766::T 118/1832) Row 10305273 (NC_000004.12:39522765:T: 617/1832)	-	Apr 26, 2020 (154)
48	Korean Genome Project Submission ignored due to conflicting rows: Row 10305271 (NC_000004.12:39522764:TT: 31/1832) Row 10305272 (NC_000004.12:39522766::T 118/1832) Row 10305273 (NC_000004.12:39522765:T: 617/1832)	-	Apr 26, 2020 (154)
49	Korean Genome Project Submission ignored due to conflicting rows: Row 10305271 (NC_000004.12:39522764:TT: 31/1832) Row 10305272 (NC_000004.12:39522766::T 118/1832) Row 10305273 (NC_000004.12:39522765:T: 617/1832)	-	Apr 26, 2020 (154)
50	Northern Sweden Submission ignored due to conflicting rows: Row 4340807 (NC_000004.11:39524384:T: 27/600) Row 4340808 (NC_000004.11:39524384::T 9/600)	-	Jul 13, 2019 (153)
51	Northern Sweden Submission ignored due to conflicting rows: Row 4340807 (NC_000004.11:39524384:T: 27/600) Row 4340808 (NC_000004.11:39524384::T 9/600)	-	Jul 13, 2019 (153)
52	8.3KJPN Submission ignored due to conflicting rows: Row 23132126 (NC_000004.11:39524384:T: 4048/16754) Row 23132127 (NC_000004.11:39524384::T 406/16754) Row 23132128 (NC_000004.11:39524384:TT: 10/16754)	-	Apr 26, 2021 (155)
53	8.3KJPN Submission ignored due to conflicting rows: Row 23132126 (NC_000004.11:39524384:T: 4048/16754) Row 23132127 (NC_000004.11:39524384::T 406/16754) Row 23132128 (NC_000004.11:39524384:TT: 10/16754)	-	Apr 26, 2021 (155)
54	8.3KJPN Submission ignored due to conflicting rows: Row 23132126 (NC_000004.11:39524384:T: 4048/16754) Row 23132127 (NC_000004.11:39524384::T 406/16754) Row 23132128 (NC_000004.11:39524384:TT: 10/16754)	-	Apr 26, 2021 (155)
55	14KJPN Submission ignored due to conflicting rows: Row 32911028 (NC_000004.12:39522764:T: 6997/28258) Row 32911029 (NC_000004.12:39522764::T 736/28258) Row 32911030 (NC_000004.12:39522764:TT: 12/28258)	-	Oct 13, 2022 (156)
56	14KJPN Submission ignored due to conflicting rows: Row 32911028 (NC_000004.12:39522764:T: 6997/28258) Row 32911029 (NC_000004.12:39522764::T 736/28258) Row 32911030 (NC_000004.12:39522764:TT: 12/28258)	-	Oct 13, 2022 (156)
57	14KJPN Submission ignored due to conflicting rows: Row 32911028 (NC_000004.12:39522764:T: 6997/28258) Row 32911029 (NC_000004.12:39522764::T 736/28258) Row 32911030 (NC_000004.12:39522764:TT: 12/28258)	-	Oct 13, 2022 (156)
58	ALFA	NC_000004.12 - 39522765	Apr 26, 2021 (155)

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

Associated ID	History Updated (Build)
rs34818885	May 23, 2006 (127)
rs74463895	May 11, 2012 (137)
rs200813008	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4094264476	NC_000004.12:39522764:TTTT:	NC_000004.12:39522764:TTTTTTTTTTTT… NC_000004.12:39522764:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
6737875058	NC_000004.12:39522764:TTTTTTTTTTTT… NC_000004.12:39522764:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000004.12:39522764:TTTTTTTTTTTT… NC_000004.12:39522764:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss4094264475	NC_000004.12:39522764:TTT:	NC_000004.12:39522764:TTTTTTTTTTTT… NC_000004.12:39522764:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
6737875058	NC_000004.12:39522764:TTTTTTTTTTTT… NC_000004.12:39522764:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000004.12:39522764:TTTTTTTTTTTT… NC_000004.12:39522764:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss5165162821	NC_000004.11:39524384:TT:	NC_000004.12:39522764:TTTTTTTTTTTT… NC_000004.12:39522764:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3953927270, ss4094264474, ss5258807596, ss5457633047, ss5699073926	NC_000004.12:39522764:TT:	NC_000004.12:39522764:TTTTTTTTTTTT… NC_000004.12:39522764:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
6737875058	NC_000004.12:39522764:TTTTTTTTTTTT… NC_000004.12:39522764:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000004.12:39522764:TTTTTTTTTTTT… NC_000004.12:39522764:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss288510491	NC_000004.10:39200779:T:	NC_000004.12:39522764:TTTTTTTTTTTT… NC_000004.12:39522764:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
20683329, 903946, ss1372056229, ss1576212168, ss2994491811, ss3731055942, ss3784681523, ss3828485835, ss5165162819	NC_000004.11:39524384:T:	NC_000004.12:39522764:TTTTTTTTTTTT… NC_000004.12:39522764:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3064963369, ss3065944142, ss3804805324, ss5258807594, ss5457633045, ss5699073924	NC_000004.12:39522764:T:	NC_000004.12:39522764:TTTTTTTTTTTT… NC_000004.12:39522764:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
6737875058	NC_000004.12:39522764:TTTTTTTTTTTT… NC_000004.12:39522764:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000004.12:39522764:TTTTTTTTTTTT… NC_000004.12:39522764:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3953927272	NC_000004.12:39522765:T:	NC_000004.12:39522764:TTTTTTTTTTTT… NC_000004.12:39522764:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss103687502	NT_016297.16:6683761:T:	NC_000004.12:39522764:TTTTTTTTTTTT… NC_000004.12:39522764:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3731055943, ss3837679380, ss5165162820	NC_000004.11:39524384::T	NC_000004.12:39522764:TTTTTTTTTTTT… NC_000004.12:39522764:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3843114425, ss4094264470, ss5258807595, ss5457633046, ss5699073925	NC_000004.12:39522764::T	NC_000004.12:39522764:TTTTTTTTTTTT… NC_000004.12:39522764:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
6737875058	NC_000004.12:39522764:TTTTTTTTTTTT… NC_000004.12:39522764:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000004.12:39522764:TTTTTTTTTTTT… NC_000004.12:39522764:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3953927271	NC_000004.12:39522766::T	NC_000004.12:39522764:TTTTTTTTTTTT… NC_000004.12:39522764:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss103687502	NT_016297.16:6683761:T:TT	NC_000004.12:39522764:TTTTTTTTTTTT… NC_000004.12:39522764:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4094264471	NC_000004.12:39522764::TT	NC_000004.12:39522764:TTTTTTTTTTTT… NC_000004.12:39522764:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
6737875058	NC_000004.12:39522764:TTTTTTTTTTTT… NC_000004.12:39522764:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000004.12:39522764:TTTTTTTTTTTT… NC_000004.12:39522764:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4094264472	NC_000004.12:39522764::TTT	NC_000004.12:39522764:TTTTTTTTTTTT… NC_000004.12:39522764:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
6737875058	NC_000004.12:39522764:TTTTTTTTTTTT… NC_000004.12:39522764:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000004.12:39522764:TTTTTTTTTTTT… NC_000004.12:39522764:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4094264473	NC_000004.12:39522764::TTTTTTTT	NC_000004.12:39522764:TTTTTTTTTTTT… NC_000004.12:39522764:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(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 rs5857683

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

rs5857683