Name: rs71272847
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.

rs71272847

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr3:184871205-184871221 (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(TA)₃ / delTATA / delTA / dupTA…
del(TA)₃ / delTATA / delTA / dupTA / dupTATA / dup(TA)₃ / dup(TA)₄
Variation Type: Indel Insertion and Deletion
Frequency: del(TA)₃=0.000008 (2/264690, TOPMED)
dupTA=0.08004 (1135/14180, ALFA)
dupTA=0.3265 (1635/5008, 1000G) (+ 2 more)
dupTA=0.2590 (1148/4432, Estonian)
dupTA=0.07 (3/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: VPS8 : 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	14180	ATATATATATATATATA=0.91812	ATATATATATA=0.00000, ATATATATATATA=0.00000, ATATATATATATATA=0.00000, ATATATATATATATATATA=0.08004, ATATATATATATATATATATA=0.00183, ATATATATATATATATATATATA=0.00000, ATATATATATATATATATATATATA=0.00000	0.862401	0.022084	0.115515	32
European	Sub	11220	ATATATATATATATATA=0.89679	ATATATATATA=0.00000, ATATATATATATA=0.00000, ATATATATATATATA=0.00000, ATATATATATATATATATA=0.10089, ATATATATATATATATATATA=0.00232, ATATATATATATATATATATATA=0.00000, ATATATATATATATATATATATATA=0.00000	0.826289	0.027758	0.145953	32
African	Sub	2248	ATATATATATATATATA=1.0000	ATATATATATA=0.0000, ATATATATATATA=0.0000, ATATATATATATATA=0.0000, ATATATATATATATATATA=0.0000, ATATATATATATATATATATA=0.0000, ATATATATATATATATATATATA=0.0000, ATATATATATATATATATATATATA=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	96	ATATATATATATATATA=1.00	ATATATATATA=0.00, ATATATATATATA=0.00, ATATATATATATATA=0.00, ATATATATATATATATATA=0.00, ATATATATATATATATATATA=0.00, ATATATATATATATATATATATA=0.00, ATATATATATATATATATATATATA=0.00	1.0	0.0	0.0	N/A
African American	Sub	2152	ATATATATATATATATA=1.0000	ATATATATATA=0.0000, ATATATATATATA=0.0000, ATATATATATATATA=0.0000, ATATATATATATATATATA=0.0000, ATATATATATATATATATATA=0.0000, ATATATATATATATATATATATA=0.0000, ATATATATATATATATATATATATA=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	8	ATATATATATATATATA=1.0	ATATATATATA=0.0, ATATATATATATA=0.0, ATATATATATATATA=0.0, ATATATATATATATATATA=0.0, ATATATATATATATATATATA=0.0, ATATATATATATATATATATATA=0.0, ATATATATATATATATATATATATA=0.0	1.0	0.0	0.0	N/A
East Asian	Sub	4	ATATATATATATATATA=1.0	ATATATATATA=0.0, ATATATATATATA=0.0, ATATATATATATATA=0.0, ATATATATATATATATATA=0.0, ATATATATATATATATATATA=0.0, ATATATATATATATATATATATA=0.0, ATATATATATATATATATATATATA=0.0	1.0	0.0	0.0	N/A
Other Asian	Sub	4	ATATATATATATATATA=1.0	ATATATATATA=0.0, ATATATATATATA=0.0, ATATATATATATATA=0.0, ATATATATATATATATATA=0.0, ATATATATATATATATATATA=0.0, ATATATATATATATATATATATA=0.0, ATATATATATATATATATATATATA=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	84	ATATATATATATATATA=1.00	ATATATATATA=0.00, ATATATATATATA=0.00, ATATATATATATATA=0.00, ATATATATATATATATATA=0.00, ATATATATATATATATATATA=0.00, ATATATATATATATATATATATA=0.00, ATATATATATATATATATATATATA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	290	ATATATATATATATATA=1.000	ATATATATATA=0.000, ATATATATATATA=0.000, ATATATATATATATA=0.000, ATATATATATATATATATA=0.000, ATATATATATATATATATATA=0.000, ATATATATATATATATATATATA=0.000, ATATATATATATATATATATATATA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	42	ATATATATATATATATA=1.00	ATATATATATA=0.00, ATATATATATATA=0.00, ATATATATATATATA=0.00, ATATATATATATATATATA=0.00, ATATATATATATATATATATA=0.00, ATATATATATATATATATATATA=0.00, ATATATATATATATATATATATATA=0.00	1.0	0.0	0.0	N/A
Other	Sub	288	ATATATATATATATATA=0.990	ATATATATATA=0.000, ATATATATATATA=0.000, ATATATATATATATA=0.000, ATATATATATATATATATA=0.010, ATATATATATATATATATATA=0.000, ATATATATATATATATATATATA=0.000, ATATATATATATATATATATATATA=0.000	0.986111	0.006944	0.006944	33

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	(AT)₈A=0.999992	del(TA)₃=0.000008
Allele Frequency Aggregator	Total	Global	14180	(AT)₈A=0.91812	del(TA)₃=0.00000, delTATA=0.00000, delTA=0.00000, dupTA=0.08004, dupTATA=0.00183, dup(TA)₃=0.00000, dup(TA)₄=0.00000
Allele Frequency Aggregator	European	Sub	11220	(AT)₈A=0.89679	del(TA)₃=0.00000, delTATA=0.00000, delTA=0.00000, dupTA=0.10089, dupTATA=0.00232, dup(TA)₃=0.00000, dup(TA)₄=0.00000
Allele Frequency Aggregator	African	Sub	2248	(AT)₈A=1.0000	del(TA)₃=0.0000, delTATA=0.0000, delTA=0.0000, dupTA=0.0000, dupTATA=0.0000, dup(TA)₃=0.0000, dup(TA)₄=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	290	(AT)₈A=1.000	del(TA)₃=0.000, delTATA=0.000, delTA=0.000, dupTA=0.000, dupTATA=0.000, dup(TA)₃=0.000, dup(TA)₄=0.000
Allele Frequency Aggregator	Other	Sub	288	(AT)₈A=0.990	del(TA)₃=0.000, delTATA=0.000, delTA=0.000, dupTA=0.010, dupTATA=0.000, dup(TA)₃=0.000, dup(TA)₄=0.000
Allele Frequency Aggregator	Latin American 1	Sub	84	(AT)₈A=1.00	del(TA)₃=0.00, delTATA=0.00, delTA=0.00, dupTA=0.00, dupTATA=0.00, dup(TA)₃=0.00, dup(TA)₄=0.00
Allele Frequency Aggregator	South Asian	Sub	42	(AT)₈A=1.00	del(TA)₃=0.00, delTATA=0.00, delTA=0.00, dupTA=0.00, dupTATA=0.00, dup(TA)₃=0.00, dup(TA)₄=0.00
Allele Frequency Aggregator	Asian	Sub	8	(AT)₈A=1.0	del(TA)₃=0.0, delTATA=0.0, delTA=0.0, dupTA=0.0, dupTATA=0.0, dup(TA)₃=0.0, dup(TA)₄=0.0
1000Genomes	Global	Study-wide	5008	- No frequency provided	dupTA=0.3265
1000Genomes	African	Sub	1322	- No frequency provided	dupTA=0.1248
1000Genomes	East Asian	Sub	1008	- No frequency provided	dupTA=0.5794
1000Genomes	Europe	Sub	1006	- No frequency provided	dupTA=0.2416
1000Genomes	South Asian	Sub	978	- No frequency provided	dupTA=0.436
1000Genomes	American	Sub	694	- No frequency provided	dupTA=0.313
Genetic variation in the Estonian population	Estonian	Study-wide	4432	- No frequency provided	dupTA=0.2590
The Danish reference pan genome	Danish	Study-wide	40	- No frequency provided	dupTA=0.07

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 3	NC_000003.12:g.184871206TA[5]
GRCh38.p14 chr 3	NC_000003.12:g.184871206TA[6]
GRCh38.p14 chr 3	NC_000003.12:g.184871206TA[7]
GRCh38.p14 chr 3	NC_000003.12:g.184871206TA[9]
GRCh38.p14 chr 3	NC_000003.12:g.184871206TA[10]
GRCh38.p14 chr 3	NC_000003.12:g.184871206TA[11]
GRCh38.p14 chr 3	NC_000003.12:g.184871206TA[12]
GRCh37.p13 chr 3	NC_000003.11:g.184588994TA[5]
GRCh37.p13 chr 3	NC_000003.11:g.184588994TA[6]
GRCh37.p13 chr 3	NC_000003.11:g.184588994TA[7]
GRCh37.p13 chr 3	NC_000003.11:g.184588994TA[9]
GRCh37.p13 chr 3	NC_000003.11:g.184588994TA[10]
GRCh37.p13 chr 3	NC_000003.11:g.184588994TA[11]
GRCh37.p13 chr 3	NC_000003.11:g.184588994TA[12]

Gene: VPS8, VPS8 subunit of CORVET complex (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
VPS8 transcript variant 1	NM_001009921.3:c.1734+400… NM_001009921.3:c.1734+400AT[5]	N/A	Intron Variant
VPS8 transcript variant 3	NM_001349292.2:c.1734+400… NM_001349292.2:c.1734+400AT[5]	N/A	Intron Variant
VPS8 transcript variant 4	NM_001349293.2:c.1734+400… NM_001349293.2:c.1734+400AT[5]	N/A	Intron Variant
VPS8 transcript variant 5	NM_001349294.2:c.1734+400… NM_001349294.2:c.1734+400AT[5]	N/A	Intron Variant
VPS8 transcript variant 6	NM_001349295.1:c.1734+400… NM_001349295.1:c.1734+400AT[5]	N/A	Intron Variant
VPS8 transcript variant 7	NM_001349296.2:c.1695+400… NM_001349296.2:c.1695+400AT[5]	N/A	Intron Variant
VPS8 transcript variant 8	NM_001349297.2:c.-139+400… NM_001349297.2:c.-139+400AT[5]	N/A	Intron Variant
VPS8 transcript variant 9	NM_001349298.2:c.-246+400… NM_001349298.2:c.-246+400AT[5]	N/A	Intron Variant
VPS8 transcript variant 2	NM_015303.4:c.1728+400AT[… NM_015303.4:c.1728+400AT[5]	N/A	Intron Variant
VPS8 transcript variant 10	NR_146113.2:n.	N/A	Intron Variant
VPS8 transcript variant 11	NR_146114.2:n.	N/A	Genic Downstream Transcript Variant
VPS8 transcript variant 12	NR_146115.1:n.	N/A	Genic Downstream Transcript Variant
VPS8 transcript variant 13	NR_146116.1:n.	N/A	Genic Downstream Transcript Variant
VPS8 transcript variant X9	XM_005247253.6:c.1734+400… XM_005247253.6:c.1734+400AT[5]	N/A	Intron Variant
VPS8 transcript variant X12	XM_006713556.5:c.18+400AT… XM_006713556.5:c.18+400AT[5]	N/A	Intron Variant
VPS8 transcript variant X11	XM_011512599.3:c.141+400A… XM_011512599.3:c.141+400AT[5]	N/A	Intron Variant
VPS8 transcript variant X14	XM_017006041.3:c.1734+400… XM_017006041.3:c.1734+400AT[5]	N/A	Intron Variant
VPS8 transcript variant X1	XM_024453426.2:c.1734+400… XM_024453426.2:c.1734+400AT[5]	N/A	Intron Variant
VPS8 transcript variant X5	XM_024453428.2:c.1728+400… XM_024453428.2:c.1728+400AT[5]	N/A	Intron Variant
VPS8 transcript variant X2	XM_047447821.1:c.1734+400… XM_047447821.1:c.1734+400AT[5]	N/A	Intron Variant
VPS8 transcript variant X3	XM_047447822.1:c.1734+400… XM_047447822.1:c.1734+400AT[5]	N/A	Intron Variant
VPS8 transcript variant X4	XM_047447823.1:c.1728+400… XM_047447823.1:c.1728+400AT[5]	N/A	Intron Variant
VPS8 transcript variant X6	XM_047447824.1:c.1728+400… XM_047447824.1:c.1728+400AT[5]	N/A	Intron Variant
VPS8 transcript variant X7	XM_047447825.1:c.1728+400… XM_047447825.1:c.1728+400AT[5]	N/A	Intron Variant
VPS8 transcript variant X8	XM_047447826.1:c.1338+400… XM_047447826.1:c.1338+400AT[5]	N/A	Intron Variant
VPS8 transcript variant X10	XM_047447827.1:c.1728+400… XM_047447827.1:c.1728+400AT[5]	N/A	Intron Variant
VPS8 transcript variant X15	XM_047447828.1:c.1728+400… XM_047447828.1:c.1728+400AT[5]	N/A	Intron Variant
VPS8 transcript variant X13	XM_011512600.4:c.	N/A	Genic Upstream Transcript Variant

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

Not Reported in ClinVar

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

Placement	(AT)₈A=	del(TA)₃	delTATA	delTA	dupTA	dupTATA	dup(TA)₃	dup(TA)₄
GRCh38.p14 chr 3	NC_000003.12:g.184871205_184871221=	NC_000003.12:g.184871206TA[5]	NC_000003.12:g.184871206TA[6]	NC_000003.12:g.184871206TA[7]	NC_000003.12:g.184871206TA[9]	NC_000003.12:g.184871206TA[10]	NC_000003.12:g.184871206TA[11]	NC_000003.12:g.184871206TA[12]
GRCh37.p13 chr 3	NC_000003.11:g.184588993_184589009=	NC_000003.11:g.184588994TA[5]	NC_000003.11:g.184588994TA[6]	NC_000003.11:g.184588994TA[7]	NC_000003.11:g.184588994TA[9]	NC_000003.11:g.184588994TA[10]	NC_000003.11:g.184588994TA[11]	NC_000003.11:g.184588994TA[12]
VPS8 transcript variant 1	NM_001009921.2:c.1734+400=	NM_001009921.2:c.1734+400AT[5]	NM_001009921.2:c.1734+400AT[6]	NM_001009921.2:c.1734+400AT[7]	NM_001009921.2:c.1734+400AT[9]	NM_001009921.2:c.1734+400AT[10]	NM_001009921.2:c.1734+400AT[11]	NM_001009921.2:c.1734+400AT[12]
VPS8 transcript variant 1	NM_001009921.3:c.1734+400=	NM_001009921.3:c.1734+400AT[5]	NM_001009921.3:c.1734+400AT[6]	NM_001009921.3:c.1734+400AT[7]	NM_001009921.3:c.1734+400AT[9]	NM_001009921.3:c.1734+400AT[10]	NM_001009921.3:c.1734+400AT[11]	NM_001009921.3:c.1734+400AT[12]
VPS8 transcript variant 3	NM_001349292.2:c.1734+400=	NM_001349292.2:c.1734+400AT[5]	NM_001349292.2:c.1734+400AT[6]	NM_001349292.2:c.1734+400AT[7]	NM_001349292.2:c.1734+400AT[9]	NM_001349292.2:c.1734+400AT[10]	NM_001349292.2:c.1734+400AT[11]	NM_001349292.2:c.1734+400AT[12]
VPS8 transcript variant 4	NM_001349293.2:c.1734+400=	NM_001349293.2:c.1734+400AT[5]	NM_001349293.2:c.1734+400AT[6]	NM_001349293.2:c.1734+400AT[7]	NM_001349293.2:c.1734+400AT[9]	NM_001349293.2:c.1734+400AT[10]	NM_001349293.2:c.1734+400AT[11]	NM_001349293.2:c.1734+400AT[12]
VPS8 transcript variant 5	NM_001349294.2:c.1734+400=	NM_001349294.2:c.1734+400AT[5]	NM_001349294.2:c.1734+400AT[6]	NM_001349294.2:c.1734+400AT[7]	NM_001349294.2:c.1734+400AT[9]	NM_001349294.2:c.1734+400AT[10]	NM_001349294.2:c.1734+400AT[11]	NM_001349294.2:c.1734+400AT[12]
VPS8 transcript variant 6	NM_001349295.1:c.1734+400=	NM_001349295.1:c.1734+400AT[5]	NM_001349295.1:c.1734+400AT[6]	NM_001349295.1:c.1734+400AT[7]	NM_001349295.1:c.1734+400AT[9]	NM_001349295.1:c.1734+400AT[10]	NM_001349295.1:c.1734+400AT[11]	NM_001349295.1:c.1734+400AT[12]
VPS8 transcript variant 7	NM_001349296.2:c.1695+400=	NM_001349296.2:c.1695+400AT[5]	NM_001349296.2:c.1695+400AT[6]	NM_001349296.2:c.1695+400AT[7]	NM_001349296.2:c.1695+400AT[9]	NM_001349296.2:c.1695+400AT[10]	NM_001349296.2:c.1695+400AT[11]	NM_001349296.2:c.1695+400AT[12]
VPS8 transcript variant 8	NM_001349297.2:c.-139+400=	NM_001349297.2:c.-139+400AT[5]	NM_001349297.2:c.-139+400AT[6]	NM_001349297.2:c.-139+400AT[7]	NM_001349297.2:c.-139+400AT[9]	NM_001349297.2:c.-139+400AT[10]	NM_001349297.2:c.-139+400AT[11]	NM_001349297.2:c.-139+400AT[12]
VPS8 transcript variant 9	NM_001349298.2:c.-246+400=	NM_001349298.2:c.-246+400AT[5]	NM_001349298.2:c.-246+400AT[6]	NM_001349298.2:c.-246+400AT[7]	NM_001349298.2:c.-246+400AT[9]	NM_001349298.2:c.-246+400AT[10]	NM_001349298.2:c.-246+400AT[11]	NM_001349298.2:c.-246+400AT[12]
VPS8 transcript variant 2	NM_015303.3:c.1728+400=	NM_015303.3:c.1728+400AT[5]	NM_015303.3:c.1728+400AT[6]	NM_015303.3:c.1728+400AT[7]	NM_015303.3:c.1728+400AT[9]	NM_015303.3:c.1728+400AT[10]	NM_015303.3:c.1728+400AT[11]	NM_015303.3:c.1728+400AT[12]
VPS8 transcript variant 2	NM_015303.4:c.1728+400=	NM_015303.4:c.1728+400AT[5]	NM_015303.4:c.1728+400AT[6]	NM_015303.4:c.1728+400AT[7]	NM_015303.4:c.1728+400AT[9]	NM_015303.4:c.1728+400AT[10]	NM_015303.4:c.1728+400AT[11]	NM_015303.4:c.1728+400AT[12]
VPS8 transcript variant X1	XM_005247250.1:c.1734+400=	XM_005247250.1:c.1734+400AT[5]	XM_005247250.1:c.1734+400AT[6]	XM_005247250.1:c.1734+400AT[7]	XM_005247250.1:c.1734+400AT[9]	XM_005247250.1:c.1734+400AT[10]	XM_005247250.1:c.1734+400AT[11]	XM_005247250.1:c.1734+400AT[12]
VPS8 transcript variant X2	XM_005247251.1:c.1734+400=	XM_005247251.1:c.1734+400AT[5]	XM_005247251.1:c.1734+400AT[6]	XM_005247251.1:c.1734+400AT[7]	XM_005247251.1:c.1734+400AT[9]	XM_005247251.1:c.1734+400AT[10]	XM_005247251.1:c.1734+400AT[11]	XM_005247251.1:c.1734+400AT[12]
VPS8 transcript variant X3	XM_005247252.1:c.1728+400=	XM_005247252.1:c.1728+400AT[5]	XM_005247252.1:c.1728+400AT[6]	XM_005247252.1:c.1728+400AT[7]	XM_005247252.1:c.1728+400AT[9]	XM_005247252.1:c.1728+400AT[10]	XM_005247252.1:c.1728+400AT[11]	XM_005247252.1:c.1728+400AT[12]
VPS8 transcript variant X4	XM_005247253.1:c.1734+400=	XM_005247253.1:c.1734+400AT[5]	XM_005247253.1:c.1734+400AT[6]	XM_005247253.1:c.1734+400AT[7]	XM_005247253.1:c.1734+400AT[9]	XM_005247253.1:c.1734+400AT[10]	XM_005247253.1:c.1734+400AT[11]	XM_005247253.1:c.1734+400AT[12]
VPS8 transcript variant X9	XM_005247253.6:c.1734+400=	XM_005247253.6:c.1734+400AT[5]	XM_005247253.6:c.1734+400AT[6]	XM_005247253.6:c.1734+400AT[7]	XM_005247253.6:c.1734+400AT[9]	XM_005247253.6:c.1734+400AT[10]	XM_005247253.6:c.1734+400AT[11]	XM_005247253.6:c.1734+400AT[12]
VPS8 transcript variant X5	XM_005247254.1:c.-246+400=	XM_005247254.1:c.-246+400AT[5]	XM_005247254.1:c.-246+400AT[6]	XM_005247254.1:c.-246+400AT[7]	XM_005247254.1:c.-246+400AT[9]	XM_005247254.1:c.-246+400AT[10]	XM_005247254.1:c.-246+400AT[11]	XM_005247254.1:c.-246+400AT[12]
VPS8 transcript variant X12	XM_006713556.5:c.18+400=	XM_006713556.5:c.18+400AT[5]	XM_006713556.5:c.18+400AT[6]	XM_006713556.5:c.18+400AT[7]	XM_006713556.5:c.18+400AT[9]	XM_006713556.5:c.18+400AT[10]	XM_006713556.5:c.18+400AT[11]	XM_006713556.5:c.18+400AT[12]
VPS8 transcript variant X11	XM_011512599.3:c.141+400=	XM_011512599.3:c.141+400AT[5]	XM_011512599.3:c.141+400AT[6]	XM_011512599.3:c.141+400AT[7]	XM_011512599.3:c.141+400AT[9]	XM_011512599.3:c.141+400AT[10]	XM_011512599.3:c.141+400AT[11]	XM_011512599.3:c.141+400AT[12]
VPS8 transcript variant X14	XM_017006041.3:c.1734+400=	XM_017006041.3:c.1734+400AT[5]	XM_017006041.3:c.1734+400AT[6]	XM_017006041.3:c.1734+400AT[7]	XM_017006041.3:c.1734+400AT[9]	XM_017006041.3:c.1734+400AT[10]	XM_017006041.3:c.1734+400AT[11]	XM_017006041.3:c.1734+400AT[12]
VPS8 transcript variant X1	XM_024453426.2:c.1734+400=	XM_024453426.2:c.1734+400AT[5]	XM_024453426.2:c.1734+400AT[6]	XM_024453426.2:c.1734+400AT[7]	XM_024453426.2:c.1734+400AT[9]	XM_024453426.2:c.1734+400AT[10]	XM_024453426.2:c.1734+400AT[11]	XM_024453426.2:c.1734+400AT[12]
VPS8 transcript variant X5	XM_024453428.2:c.1728+400=	XM_024453428.2:c.1728+400AT[5]	XM_024453428.2:c.1728+400AT[6]	XM_024453428.2:c.1728+400AT[7]	XM_024453428.2:c.1728+400AT[9]	XM_024453428.2:c.1728+400AT[10]	XM_024453428.2:c.1728+400AT[11]	XM_024453428.2:c.1728+400AT[12]
VPS8 transcript variant X2	XM_047447821.1:c.1734+400=	XM_047447821.1:c.1734+400AT[5]	XM_047447821.1:c.1734+400AT[6]	XM_047447821.1:c.1734+400AT[7]	XM_047447821.1:c.1734+400AT[9]	XM_047447821.1:c.1734+400AT[10]	XM_047447821.1:c.1734+400AT[11]	XM_047447821.1:c.1734+400AT[12]
VPS8 transcript variant X3	XM_047447822.1:c.1734+400=	XM_047447822.1:c.1734+400AT[5]	XM_047447822.1:c.1734+400AT[6]	XM_047447822.1:c.1734+400AT[7]	XM_047447822.1:c.1734+400AT[9]	XM_047447822.1:c.1734+400AT[10]	XM_047447822.1:c.1734+400AT[11]	XM_047447822.1:c.1734+400AT[12]
VPS8 transcript variant X4	XM_047447823.1:c.1728+400=	XM_047447823.1:c.1728+400AT[5]	XM_047447823.1:c.1728+400AT[6]	XM_047447823.1:c.1728+400AT[7]	XM_047447823.1:c.1728+400AT[9]	XM_047447823.1:c.1728+400AT[10]	XM_047447823.1:c.1728+400AT[11]	XM_047447823.1:c.1728+400AT[12]
VPS8 transcript variant X6	XM_047447824.1:c.1728+400=	XM_047447824.1:c.1728+400AT[5]	XM_047447824.1:c.1728+400AT[6]	XM_047447824.1:c.1728+400AT[7]	XM_047447824.1:c.1728+400AT[9]	XM_047447824.1:c.1728+400AT[10]	XM_047447824.1:c.1728+400AT[11]	XM_047447824.1:c.1728+400AT[12]
VPS8 transcript variant X7	XM_047447825.1:c.1728+400=	XM_047447825.1:c.1728+400AT[5]	XM_047447825.1:c.1728+400AT[6]	XM_047447825.1:c.1728+400AT[7]	XM_047447825.1:c.1728+400AT[9]	XM_047447825.1:c.1728+400AT[10]	XM_047447825.1:c.1728+400AT[11]	XM_047447825.1:c.1728+400AT[12]
VPS8 transcript variant X8	XM_047447826.1:c.1338+400=	XM_047447826.1:c.1338+400AT[5]	XM_047447826.1:c.1338+400AT[6]	XM_047447826.1:c.1338+400AT[7]	XM_047447826.1:c.1338+400AT[9]	XM_047447826.1:c.1338+400AT[10]	XM_047447826.1:c.1338+400AT[11]	XM_047447826.1:c.1338+400AT[12]
VPS8 transcript variant X10	XM_047447827.1:c.1728+400=	XM_047447827.1:c.1728+400AT[5]	XM_047447827.1:c.1728+400AT[6]	XM_047447827.1:c.1728+400AT[7]	XM_047447827.1:c.1728+400AT[9]	XM_047447827.1:c.1728+400AT[10]	XM_047447827.1:c.1728+400AT[11]	XM_047447827.1:c.1728+400AT[12]
VPS8 transcript variant X15	XM_047447828.1:c.1728+400=	XM_047447828.1:c.1728+400AT[5]	XM_047447828.1:c.1728+400AT[6]	XM_047447828.1:c.1728+400AT[7]	XM_047447828.1:c.1728+400AT[9]	XM_047447828.1:c.1728+400AT[10]	XM_047447828.1:c.1728+400AT[11]	XM_047447828.1:c.1728+400AT[12]

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#.

54 SubSNP, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HUMANGENOME_JCVI	ss95945246	Dec 05, 2013 (138)
2	GMI	ss288460379	May 04, 2012 (137)
3	1000GENOMES	ss326465092	May 09, 2011 (134)
4	1000GENOMES	ss326491897	May 09, 2011 (134)
5	LUNTER	ss551316024	Apr 25, 2013 (138)
6	LUNTER	ss551421615	Apr 25, 2013 (138)
7	LUNTER	ss553088017	Apr 25, 2013 (138)
8	SSMP	ss663386912	Apr 01, 2015 (144)
9	1000GENOMES	ss1371471858	Aug 21, 2014 (142)
10	EVA_GENOME_DK	ss1576115601	Apr 01, 2015 (144)
11	EVA_UK10K_ALSPAC	ss1703969247	Jan 10, 2018 (151)
12	EVA_UK10K_TWINSUK	ss1703969366	Jan 10, 2018 (151)
13	EVA_UK10K_TWINSUK	ss1710122474	Oct 12, 2018 (152)
14	EVA_UK10K_ALSPAC	ss1710122477	Oct 12, 2018 (152)
15	JJLAB	ss2030566758	Sep 14, 2016 (149)
16	SWEGEN	ss2993787447	Jan 10, 2018 (151)
17	MCHAISSO	ss3064081198	Nov 08, 2017 (151)
18	MCHAISSO	ss3064081199	Nov 08, 2017 (151)
19	MCHAISSO	ss3064944974	Nov 08, 2017 (151)
20	MCHAISSO	ss3064944975	Nov 08, 2017 (151)
21	URBANLAB	ss3647604338	Oct 12, 2018 (152)
22	EGCUT_WGS	ss3661746739	Jul 13, 2019 (153)
23	EVA_DECODE	ss3711005754	Jul 13, 2019 (153)
24	EVA_DECODE	ss3711005755	Jul 13, 2019 (153)
25	EVA_DECODE	ss3711005756	Jul 13, 2019 (153)
26	EVA_DECODE	ss3711005757	Jul 13, 2019 (153)
27	ACPOP	ss3730671432	Jul 13, 2019 (153)
28	ACPOP	ss3730671433	Jul 13, 2019 (153)
29	KHV_HUMAN_GENOMES	ss3804280886	Jul 13, 2019 (153)
30	EVA	ss3828263711	Apr 25, 2020 (154)
31	EVA	ss3837563390	Apr 25, 2020 (154)
32	EVA	ss3842995980	Apr 25, 2020 (154)
33	GNOMAD	ss4087314177	Apr 26, 2021 (155)
34	GNOMAD	ss4087314178	Apr 26, 2021 (155)
35	GNOMAD	ss4087314179	Apr 26, 2021 (155)
36	GNOMAD	ss4087314180	Apr 26, 2021 (155)
37	GNOMAD	ss4087314181	Apr 26, 2021 (155)
38	GNOMAD	ss4087314182	Apr 26, 2021 (155)
39	TOPMED	ss4596557420	Apr 26, 2021 (155)
40	TOMMO_GENOMICS	ss5163260369	Apr 26, 2021 (155)
41	TOMMO_GENOMICS	ss5163260370	Apr 26, 2021 (155)
42	TOMMO_GENOMICS	ss5163260371	Apr 26, 2021 (155)
43	1000G_HIGH_COVERAGE	ss5257322016	Oct 13, 2022 (156)
44	1000G_HIGH_COVERAGE	ss5257322017	Oct 13, 2022 (156)
45	HUGCELL_USP	ss5456337434	Oct 13, 2022 (156)
46	HUGCELL_USP	ss5456337435	Oct 13, 2022 (156)
47	HUGCELL_USP	ss5456337436	Oct 13, 2022 (156)
48	HUGCELL_USP	ss5456337437	Oct 13, 2022 (156)
49	TOMMO_GENOMICS	ss5696620462	Oct 13, 2022 (156)
50	TOMMO_GENOMICS	ss5696620463	Oct 13, 2022 (156)
51	TOMMO_GENOMICS	ss5696620464	Oct 13, 2022 (156)
52	EVA	ss5826980026	Oct 13, 2022 (156)
53	EVA	ss5826980027	Oct 13, 2022 (156)
54	EVA	ss5853995414	Oct 13, 2022 (156)
55	1000Genomes	NC_000003.11 - 184588993	Oct 12, 2018 (152)
56	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 10565383 (NC_000003.11:184588992::AT 766/3854) Row 10565384 (NC_000003.11:184588992:AT: 114/3854)	-	Oct 12, 2018 (152)
57	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 10565383 (NC_000003.11:184588992::AT 766/3854) Row 10565384 (NC_000003.11:184588992:AT: 114/3854)	-	Oct 12, 2018 (152)
58	Genetic variation in the Estonian population	NC_000003.11 - 184588993	Oct 12, 2018 (152)
59	The Danish reference pan genome	NC_000003.11 - 184588993	Apr 25, 2020 (154)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 134672145 (NC_000003.12:184871204::AT 29101/137336) Row 134672146 (NC_000003.12:184871204::ATAT 748/137436) Row 134672147 (NC_000003.12:184871204::ATATAT 4/137450)...	-	Apr 26, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 134672145 (NC_000003.12:184871204::AT 29101/137336) Row 134672146 (NC_000003.12:184871204::ATAT 748/137436) Row 134672147 (NC_000003.12:184871204::ATATAT 4/137450)...	-	Apr 26, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 134672145 (NC_000003.12:184871204::AT 29101/137336) Row 134672146 (NC_000003.12:184871204::ATAT 748/137436) Row 134672147 (NC_000003.12:184871204::ATATAT 4/137450)...	-	Apr 26, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 134672145 (NC_000003.12:184871204::AT 29101/137336) Row 134672146 (NC_000003.12:184871204::ATAT 748/137436) Row 134672147 (NC_000003.12:184871204::ATATAT 4/137450)...	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 134672145 (NC_000003.12:184871204::AT 29101/137336) Row 134672146 (NC_000003.12:184871204::ATAT 748/137436) Row 134672147 (NC_000003.12:184871204::ATATAT 4/137450)...	-	Apr 26, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 134672145 (NC_000003.12:184871204::AT 29101/137336) Row 134672146 (NC_000003.12:184871204::ATAT 748/137436) Row 134672147 (NC_000003.12:184871204::ATATAT 4/137450)...	-	Apr 26, 2021 (155)
66	Northern Sweden Submission ignored due to conflicting rows: Row 3956297 (NC_000003.11:184588992::AT 181/600) Row 3956298 (NC_000003.11:184588992::ATAT 2/600)	-	Jul 13, 2019 (153)
67	Northern Sweden Submission ignored due to conflicting rows: Row 3956297 (NC_000003.11:184588992::AT 181/600) Row 3956298 (NC_000003.11:184588992::ATAT 2/600)	-	Jul 13, 2019 (153)
68	8.3KJPN Submission ignored due to conflicting rows: Row 21229676 (NC_000003.11:184588992::AT 9282/16760) Row 21229677 (NC_000003.11:184588992::ATAT 252/16760) Row 21229678 (NC_000003.11:184588992:AT: 2/16760)	-	Apr 26, 2021 (155)
69	8.3KJPN Submission ignored due to conflicting rows: Row 21229676 (NC_000003.11:184588992::AT 9282/16760) Row 21229677 (NC_000003.11:184588992::ATAT 252/16760) Row 21229678 (NC_000003.11:184588992:AT: 2/16760)	-	Apr 26, 2021 (155)
70	8.3KJPN Submission ignored due to conflicting rows: Row 21229676 (NC_000003.11:184588992::AT 9282/16760) Row 21229677 (NC_000003.11:184588992::ATAT 252/16760) Row 21229678 (NC_000003.11:184588992:AT: 2/16760)	-	Apr 26, 2021 (155)
71	14KJPN Submission ignored due to conflicting rows: Row 30457566 (NC_000003.12:184871204::AT 15609/28258) Row 30457567 (NC_000003.12:184871204::ATAT 412/28258) Row 30457568 (NC_000003.12:184871204:AT: 1/28258)	-	Oct 13, 2022 (156)
72	14KJPN Submission ignored due to conflicting rows: Row 30457566 (NC_000003.12:184871204::AT 15609/28258) Row 30457567 (NC_000003.12:184871204::ATAT 412/28258) Row 30457568 (NC_000003.12:184871204:AT: 1/28258)	-	Oct 13, 2022 (156)
73	14KJPN Submission ignored due to conflicting rows: Row 30457566 (NC_000003.12:184871204::AT 15609/28258) Row 30457567 (NC_000003.12:184871204::ATAT 412/28258) Row 30457568 (NC_000003.12:184871204:AT: 1/28258)	-	Oct 13, 2022 (156)
74	TopMed	NC_000003.12 - 184871205	Apr 26, 2021 (155)
75	UK 10K study - Twins Submission ignored due to conflicting rows: Row 10565383 (NC_000003.11:184588992::AT 698/3708) Row 10565384 (NC_000003.11:184588992:AT: 81/3708)	-	Oct 12, 2018 (152)
76	UK 10K study - Twins Submission ignored due to conflicting rows: Row 10565383 (NC_000003.11:184588992::AT 698/3708) Row 10565384 (NC_000003.11:184588992:AT: 81/3708)	-	Oct 12, 2018 (152)
77	ALFA	NC_000003.12 - 184871205	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)
rs72040049	May 15, 2013 (138)
rs796603341	Nov 08, 2017 (151)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
433934975, ss4087314182, ss4596557420	NC_000003.12:184871204:ATATAT:	NC_000003.12:184871204:ATATATATATA… NC_000003.12:184871204:ATATATATATATATATA:ATATATATATA	(self)
3211737361	NC_000003.12:184871204:ATATATATATA… NC_000003.12:184871204:ATATATATATATATATA:ATATATATATA	NC_000003.12:184871204:ATATATATATA… NC_000003.12:184871204:ATATATATATATATATA:ATATATATATA	(self)
ss3711005757	NC_000003.12:184871204:ATAT:	NC_000003.12:184871204:ATATATATATA… NC_000003.12:184871204:ATATATATATATATATA:ATATATATATATA	(self)
3211737361	NC_000003.12:184871204:ATATATATATA… NC_000003.12:184871204:ATATATATATATATATA:ATATATATATATA	NC_000003.12:184871204:ATATATATATA… NC_000003.12:184871204:ATATATATATATATATA:ATATATATATATA	(self)
ss1703969247, ss1703969366, ss2993787447, ss5163260371, ss5826980027	NC_000003.11:184588992:AT:	NC_000003.12:184871204:ATATATATATA… NC_000003.12:184871204:ATATATATATATATATA:ATATATATATATATA	(self)
ss4087314181, ss5456337435, ss5696620464	NC_000003.12:184871204:AT:	NC_000003.12:184871204:ATATATATATA… NC_000003.12:184871204:ATATATATATATATATA:ATATATATATATATA	(self)
3211737361	NC_000003.12:184871204:ATATATATATA… NC_000003.12:184871204:ATATATATATATATATA:ATATATATATATATA	NC_000003.12:184871204:ATATATATATA… NC_000003.12:184871204:ATATATATATATATATA:ATATATATATATATA	(self)
ss3711005756	NC_000003.12:184871206:AT:	NC_000003.12:184871204:ATATATATATA… NC_000003.12:184871204:ATATATATATATATATA:ATATATATATATATA	(self)
ss326465092, ss326491897, ss551316024, ss551421615, ss553088017	NC_000003.10:186071686::AT	NC_000003.12:184871204:ATATATATATA… NC_000003.12:184871204:ATATATATATATATATA:ATATATATATATATATATA	(self)
ss288460379	NC_000003.10:186071703::TA	NC_000003.12:184871204:ATATATATATA… NC_000003.12:184871204:ATATATATATATATATA:ATATATATATATATATATA	(self)
18956674, 7484987, 879471, ss663386912, ss1371471858, ss1576115601, ss2030566758, ss3661746739, ss3730671432, ss3828263711, ss3837563390, ss5163260369, ss5826980026	NC_000003.11:184588992::AT	NC_000003.12:184871204:ATATATATATA… NC_000003.12:184871204:ATATATATATATATATA:ATATATATATATATATATA	(self)
ss1710122474, ss1710122477	NC_000003.11:184588994::AT	NC_000003.12:184871204:ATATATATATA… NC_000003.12:184871204:ATATATATATATATATA:ATATATATATATATATATA	(self)
ss3064081198, ss3064081199, ss3064944974, ss3064944975, ss3647604338, ss3804280886, ss3842995980, ss4087314177, ss5257322016, ss5456337434, ss5696620462, ss5853995414	NC_000003.12:184871204::AT	NC_000003.12:184871204:ATATATATATA… NC_000003.12:184871204:ATATATATATATATATA:ATATATATATATATATATA	(self)
3211737361	NC_000003.12:184871204:ATATATATATA… NC_000003.12:184871204:ATATATATATATATATA:ATATATATATATATATATA	NC_000003.12:184871204:ATATATATATA… NC_000003.12:184871204:ATATATATATATATATA:ATATATATATATATATATA	(self)
ss3711005755	NC_000003.12:184871208::AT	NC_000003.12:184871204:ATATATATATA… NC_000003.12:184871204:ATATATATATATATATA:ATATATATATATATATATA	(self)
ss95945246	NT_005612.16:91084155::TA	NC_000003.12:184871204:ATATATATATA… NC_000003.12:184871204:ATATATATATATATATA:ATATATATATATATATATA	(self)
ss3730671433, ss5163260370	NC_000003.11:184588992::ATAT	NC_000003.12:184871204:ATATATATATA… NC_000003.12:184871204:ATATATATATATATATA:ATATATATATATATATATATA	(self)
ss4087314178, ss5257322017, ss5456337436, ss5696620463	NC_000003.12:184871204::ATAT	NC_000003.12:184871204:ATATATATATA… NC_000003.12:184871204:ATATATATATATATATA:ATATATATATATATATATATA	(self)
3211737361	NC_000003.12:184871204:ATATATATATA… NC_000003.12:184871204:ATATATATATATATATA:ATATATATATATATATATATA	NC_000003.12:184871204:ATATATATATA… NC_000003.12:184871204:ATATATATATATATATA:ATATATATATATATATATATA	(self)
ss3711005754	NC_000003.12:184871208::ATAT	NC_000003.12:184871204:ATATATATATA… NC_000003.12:184871204:ATATATATATATATATA:ATATATATATATATATATATA	(self)
ss4087314179, ss5456337437	NC_000003.12:184871204::ATATAT	NC_000003.12:184871204:ATATATATATA… NC_000003.12:184871204:ATATATATATATATATA:ATATATATATATATATATATATA	(self)
3211737361	NC_000003.12:184871204:ATATATATATA… NC_000003.12:184871204:ATATATATATATATATA:ATATATATATATATATATATATA	NC_000003.12:184871204:ATATATATATA… NC_000003.12:184871204:ATATATATATATATATA:ATATATATATATATATATATATA	(self)
ss4087314180	NC_000003.12:184871204::ATATATAT	NC_000003.12:184871204:ATATATATATA… NC_000003.12:184871204:ATATATATATATATATA:ATATATATATATATATATATATATA	(self)
3211737361	NC_000003.12:184871204:ATATATATATA… NC_000003.12:184871204:ATATATATATATATATA:ATATATATATATATATATATATATA	NC_000003.12:184871204:ATATATATATA… NC_000003.12:184871204:ATATATATATATATATA:ATATATATATATATATATATATATA	(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 rs71272847

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

rs71272847