Name: rs540388372
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.

rs540388372

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:99483018-99483034 (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: delAAA / delAA / delA / dupA / dup…
delAAA / delAA / delA / dupA / dupAA / dupAAA
Variation Type: Indel Insertion and Deletion
Frequency: delA=0.1018 (890/8742, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: REV1 : 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	8742	AAAAAAAAAAAAAAAAA=0.8086	AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.1018, AAAAAAAAAAAAAAAAAA=0.0845, AAAAAAAAAAAAAAAAAAA=0.0050, AAAAAAAAAAAAAAAAAAAA=0.0000	0.819555	0.021697	0.158748	31
European	Sub	7138	AAAAAAAAAAAAAAAAA=0.7662	AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.1243, AAAAAAAAAAAAAAAAAA=0.1034, AAAAAAAAAAAAAAAAAAA=0.0062, AAAAAAAAAAAAAAAAAAAA=0.0000	0.769366	0.027817	0.202817	15
African	Sub	1032	AAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	36	AAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	996	AAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	82	AAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	64	AAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	18	AAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	56	AAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	204	AAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	40	AAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	190	AAAAAAAAAAAAAAAAA=0.979	AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.016, AAAAAAAAAAAAAAAAAA=0.005, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000	0.978723	0.0	0.021277	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	8742	(A)₁₇=0.8086	delAA=0.0000, delA=0.1018, dupA=0.0845, dupAA=0.0050, dupAAA=0.0000
Allele Frequency Aggregator	European	Sub	7138	(A)₁₇=0.7662	delAA=0.0000, delA=0.1243, dupA=0.1034, dupAA=0.0062, dupAAA=0.0000
Allele Frequency Aggregator	African	Sub	1032	(A)₁₇=1.0000	delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	204	(A)₁₇=1.000	delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	Other	Sub	190	(A)₁₇=0.979	delAA=0.000, delA=0.016, dupA=0.005, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	Asian	Sub	82	(A)₁₇=1.00	delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	Latin American 1	Sub	56	(A)₁₇=1.00	delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	South Asian	Sub	40	(A)₁₇=1.00	delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00

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 2	NC_000002.12:g.99483032_99483034del
GRCh38.p14 chr 2	NC_000002.12:g.99483033_99483034del
GRCh38.p14 chr 2	NC_000002.12:g.99483034del
GRCh38.p14 chr 2	NC_000002.12:g.99483034dup
GRCh38.p14 chr 2	NC_000002.12:g.99483033_99483034dup
GRCh38.p14 chr 2	NC_000002.12:g.99483032_99483034dup
GRCh37.p13 chr 2	NC_000002.11:g.100099494_100099496del
GRCh37.p13 chr 2	NC_000002.11:g.100099495_100099496del
GRCh37.p13 chr 2	NC_000002.11:g.100099496del
GRCh37.p13 chr 2	NC_000002.11:g.100099496dup
GRCh37.p13 chr 2	NC_000002.11:g.100099495_100099496dup
GRCh37.p13 chr 2	NC_000002.11:g.100099494_100099496dup

Gene: REV1, REV1 DNA directed polymerase (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
REV1 transcript variant 2	NM_001037872.3:c.-11+6797… NM_001037872.3:c.-11+6797_-11+6799del	N/A	Intron Variant
REV1 transcript variant 3	NM_001321454.2:c.-11+6797… NM_001321454.2:c.-11+6797_-11+6799del	N/A	Intron Variant
REV1 transcript variant 4	NM_001321455.2:c.-378+679… NM_001321455.2:c.-378+6797_-378+6799del	N/A	Intron Variant
REV1 transcript variant 5	NM_001321458.2:c.-1605+67… NM_001321458.2:c.-1605+6797_-1605+6799del	N/A	Intron Variant
REV1 transcript variant 6	NM_001321459.2:c.-1780+67… NM_001321459.2:c.-1780+6797_-1780+6799del	N/A	Intron Variant
REV1 transcript variant 7	NM_001321460.2:c.-1777+67… NM_001321460.2:c.-1777+6797_-1777+6799del	N/A	Intron Variant
REV1 transcript variant 1	NM_016316.4:c.-11+6797_-1… NM_016316.4:c.-11+6797_-11+6799del	N/A	Intron Variant
REV1 transcript variant 8	NR_135649.2:n.	N/A	Intron Variant
REV1 transcript variant 9	NR_135650.2:n.	N/A	Intron Variant
REV1 transcript variant 10	NR_135651.2:n.	N/A	Intron Variant
REV1 transcript variant 11	NR_135652.2:n.	N/A	Intron Variant
REV1 transcript variant 12	NR_135653.2:n.	N/A	Intron Variant
REV1 transcript variant X6	XM_017004311.2:c.-11+7085… XM_017004311.2:c.-11+7085_-11+7087del	N/A	Intron Variant
REV1 transcript variant X7	XM_017004312.3:c.-11+6797… XM_017004312.3:c.-11+6797_-11+6799del	N/A	Intron Variant
REV1 transcript variant X8	XM_047444719.1:c.-11+7085… XM_047444719.1:c.-11+7085_-11+7087del	N/A	Intron Variant
REV1 transcript variant X10	XM_047444721.1:c.-11+7085… XM_047444721.1:c.-11+7085_-11+7087del	N/A	Intron Variant
REV1 transcript variant X11	XM_047444723.1:c.-11+7085… XM_047444723.1:c.-11+7085_-11+7087del	N/A	Intron Variant
REV1 transcript variant X1	XM_017004310.2:c.-3048_-3… XM_017004310.2:c.-3048_-3032=	N/A	5 Prime UTR Variant
REV1 transcript variant X2	XM_047444717.1:c.-3048_-3… XM_047444717.1:c.-3048_-3032=	N/A	5 Prime UTR Variant
REV1 transcript variant X3	XM_047444718.1:c.-3048_-3… XM_047444718.1:c.-3048_-3032=	N/A	5 Prime UTR Variant
REV1 transcript variant X4	XM_017004313.2:c.-3048_-3… XM_017004313.2:c.-3048_-3032=	N/A	5 Prime UTR Variant
REV1 transcript variant X5	XM_017004309.3:c.-855_-83… XM_017004309.3:c.-855_-839=	N/A	5 Prime UTR Variant
REV1 transcript variant X9	XM_047444720.1:c.-855_-83… XM_047444720.1:c.-855_-839=	N/A	5 Prime UTR Variant
REV1 transcript variant X14	XM_047444725.1:c.-3048_-3… XM_047444725.1:c.-3048_-3032=	N/A	5 Prime UTR Variant
REV1 transcript variant X13	XM_011511341.3:c.	N/A	Genic Upstream Transcript Variant
REV1 transcript variant X12	XM_047444724.1: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	(A)₁₇=	delAAA	delAA	delA	dupA	dupAA	dupAAA
GRCh38.p14 chr 2	NC_000002.12:g.99483018_99483034=	NC_000002.12:g.99483032_99483034del	NC_000002.12:g.99483033_99483034del	NC_000002.12:g.99483034del	NC_000002.12:g.99483034dup	NC_000002.12:g.99483033_99483034dup	NC_000002.12:g.99483032_99483034dup
GRCh37.p13 chr 2	NC_000002.11:g.100099480_100099496=	NC_000002.11:g.100099494_100099496del	NC_000002.11:g.100099495_100099496del	NC_000002.11:g.100099496del	NC_000002.11:g.100099496dup	NC_000002.11:g.100099495_100099496dup	NC_000002.11:g.100099494_100099496dup
REV1 transcript variant X5	XM_017004309.3:c.-855_-839=	XM_017004309.3:c.-841_-839del	XM_017004309.3:c.-840_-839del	XM_017004309.3:c.-839del	XM_017004309.3:c.-839dup	XM_017004309.3:c.-840_-839dup	XM_017004309.3:c.-841_-839dup
REV1 transcript variant X1	XM_017004310.2:c.-3048_-3032=	XM_017004310.2:c.-3034_-3032del	XM_017004310.2:c.-3033_-3032del	XM_017004310.2:c.-3032del	XM_017004310.2:c.-3032dup	XM_017004310.2:c.-3033_-3032dup	XM_017004310.2:c.-3034_-3032dup
REV1 transcript variant X4	XM_017004313.2:c.-3048_-3032=	XM_017004313.2:c.-3034_-3032del	XM_017004313.2:c.-3033_-3032del	XM_017004313.2:c.-3032del	XM_017004313.2:c.-3032dup	XM_017004313.2:c.-3033_-3032dup	XM_017004313.2:c.-3034_-3032dup
REV1 transcript variant X2	XM_047444717.1:c.-3048_-3032=	XM_047444717.1:c.-3034_-3032del	XM_047444717.1:c.-3033_-3032del	XM_047444717.1:c.-3032del	XM_047444717.1:c.-3032dup	XM_047444717.1:c.-3033_-3032dup	XM_047444717.1:c.-3034_-3032dup
REV1 transcript variant X3	XM_047444718.1:c.-3048_-3032=	XM_047444718.1:c.-3034_-3032del	XM_047444718.1:c.-3033_-3032del	XM_047444718.1:c.-3032del	XM_047444718.1:c.-3032dup	XM_047444718.1:c.-3033_-3032dup	XM_047444718.1:c.-3034_-3032dup
REV1 transcript variant X9	XM_047444720.1:c.-855_-839=	XM_047444720.1:c.-841_-839del	XM_047444720.1:c.-840_-839del	XM_047444720.1:c.-839del	XM_047444720.1:c.-839dup	XM_047444720.1:c.-840_-839dup	XM_047444720.1:c.-841_-839dup
REV1 transcript variant X14	XM_047444725.1:c.-3048_-3032=	XM_047444725.1:c.-3034_-3032del	XM_047444725.1:c.-3033_-3032del	XM_047444725.1:c.-3032del	XM_047444725.1:c.-3032dup	XM_047444725.1:c.-3033_-3032dup	XM_047444725.1:c.-3034_-3032dup
REV1 transcript variant 2	NM_001037872.1:c.-11+6799=	NM_001037872.1:c.-11+6797_-11+6799del	NM_001037872.1:c.-11+6798_-11+6799del	NM_001037872.1:c.-11+6799del	NM_001037872.1:c.-11+6799dup	NM_001037872.1:c.-11+6798_-11+6799dup	NM_001037872.1:c.-11+6797_-11+6799dup
REV1 transcript variant 2	NM_001037872.3:c.-11+6799=	NM_001037872.3:c.-11+6797_-11+6799del	NM_001037872.3:c.-11+6798_-11+6799del	NM_001037872.3:c.-11+6799del	NM_001037872.3:c.-11+6799dup	NM_001037872.3:c.-11+6798_-11+6799dup	NM_001037872.3:c.-11+6797_-11+6799dup
REV1 transcript variant 3	NM_001321454.2:c.-11+6799=	NM_001321454.2:c.-11+6797_-11+6799del	NM_001321454.2:c.-11+6798_-11+6799del	NM_001321454.2:c.-11+6799del	NM_001321454.2:c.-11+6799dup	NM_001321454.2:c.-11+6798_-11+6799dup	NM_001321454.2:c.-11+6797_-11+6799dup
REV1 transcript variant 4	NM_001321455.2:c.-378+6799=	NM_001321455.2:c.-378+6797_-378+6799del	NM_001321455.2:c.-378+6798_-378+6799del	NM_001321455.2:c.-378+6799del	NM_001321455.2:c.-378+6799dup	NM_001321455.2:c.-378+6798_-378+6799dup	NM_001321455.2:c.-378+6797_-378+6799dup
REV1 transcript variant 5	NM_001321458.2:c.-1605+6799=	NM_001321458.2:c.-1605+6797_-1605+6799del	NM_001321458.2:c.-1605+6798_-1605+6799del	NM_001321458.2:c.-1605+6799del	NM_001321458.2:c.-1605+6799dup	NM_001321458.2:c.-1605+6798_-1605+6799dup	NM_001321458.2:c.-1605+6797_-1605+6799dup
REV1 transcript variant 6	NM_001321459.2:c.-1780+6799=	NM_001321459.2:c.-1780+6797_-1780+6799del	NM_001321459.2:c.-1780+6798_-1780+6799del	NM_001321459.2:c.-1780+6799del	NM_001321459.2:c.-1780+6799dup	NM_001321459.2:c.-1780+6798_-1780+6799dup	NM_001321459.2:c.-1780+6797_-1780+6799dup
REV1 transcript variant 7	NM_001321460.2:c.-1777+6799=	NM_001321460.2:c.-1777+6797_-1777+6799del	NM_001321460.2:c.-1777+6798_-1777+6799del	NM_001321460.2:c.-1777+6799del	NM_001321460.2:c.-1777+6799dup	NM_001321460.2:c.-1777+6798_-1777+6799dup	NM_001321460.2:c.-1777+6797_-1777+6799dup
REV1 transcript variant 1	NM_016316.2:c.-11+6799=	NM_016316.2:c.-11+6797_-11+6799del	NM_016316.2:c.-11+6798_-11+6799del	NM_016316.2:c.-11+6799del	NM_016316.2:c.-11+6799dup	NM_016316.2:c.-11+6798_-11+6799dup	NM_016316.2:c.-11+6797_-11+6799dup
REV1 transcript variant 1	NM_016316.4:c.-11+6799=	NM_016316.4:c.-11+6797_-11+6799del	NM_016316.4:c.-11+6798_-11+6799del	NM_016316.4:c.-11+6799del	NM_016316.4:c.-11+6799dup	NM_016316.4:c.-11+6798_-11+6799dup	NM_016316.4:c.-11+6797_-11+6799dup
REV1 transcript variant X6	XM_017004311.2:c.-11+7087=	XM_017004311.2:c.-11+7085_-11+7087del	XM_017004311.2:c.-11+7086_-11+7087del	XM_017004311.2:c.-11+7087del	XM_017004311.2:c.-11+7087dup	XM_017004311.2:c.-11+7086_-11+7087dup	XM_017004311.2:c.-11+7085_-11+7087dup
REV1 transcript variant X7	XM_017004312.3:c.-11+6799=	XM_017004312.3:c.-11+6797_-11+6799del	XM_017004312.3:c.-11+6798_-11+6799del	XM_017004312.3:c.-11+6799del	XM_017004312.3:c.-11+6799dup	XM_017004312.3:c.-11+6798_-11+6799dup	XM_017004312.3:c.-11+6797_-11+6799dup
REV1 transcript variant X8	XM_047444719.1:c.-11+7087=	XM_047444719.1:c.-11+7085_-11+7087del	XM_047444719.1:c.-11+7086_-11+7087del	XM_047444719.1:c.-11+7087del	XM_047444719.1:c.-11+7087dup	XM_047444719.1:c.-11+7086_-11+7087dup	XM_047444719.1:c.-11+7085_-11+7087dup
REV1 transcript variant X10	XM_047444721.1:c.-11+7087=	XM_047444721.1:c.-11+7085_-11+7087del	XM_047444721.1:c.-11+7086_-11+7087del	XM_047444721.1:c.-11+7087del	XM_047444721.1:c.-11+7087dup	XM_047444721.1:c.-11+7086_-11+7087dup	XM_047444721.1:c.-11+7085_-11+7087dup
REV1 transcript variant X11	XM_047444723.1:c.-11+7087=	XM_047444723.1:c.-11+7085_-11+7087del	XM_047444723.1:c.-11+7086_-11+7087del	XM_047444723.1:c.-11+7087del	XM_047444723.1:c.-11+7087dup	XM_047444723.1:c.-11+7086_-11+7087dup	XM_047444723.1:c.-11+7085_-11+7087dup

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#.

27 SubSNP, 15 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss80304474	Oct 11, 2018 (152)
2	SSIP	ss947058719	Aug 21, 2014 (142)
3	MCHAISSO	ss3064799306	Nov 08, 2017 (151)
4	EVA_DECODE	ss3704471547	Jul 13, 2019 (153)
5	EVA_DECODE	ss3704471548	Jul 13, 2019 (153)
6	EVA_DECODE	ss3704471549	Jul 13, 2019 (153)
7	EVA_DECODE	ss3704471550	Jul 13, 2019 (153)
8	ACPOP	ss3728678319	Jul 13, 2019 (153)
9	ACPOP	ss3728678320	Jul 13, 2019 (153)
10	EVA	ss3827115925	Apr 25, 2020 (154)
11	GNOMAD	ss4046928741	Apr 26, 2021 (155)
12	GNOMAD	ss4046928742	Apr 26, 2021 (155)
13	GNOMAD	ss4046928743	Apr 26, 2021 (155)
14	GNOMAD	ss4046928744	Apr 26, 2021 (155)
15	GNOMAD	ss4046928745	Apr 26, 2021 (155)
16	TOMMO_GENOMICS	ss5152828540	Apr 26, 2021 (155)
17	TOMMO_GENOMICS	ss5152828541	Apr 26, 2021 (155)
18	TOMMO_GENOMICS	ss5152828542	Apr 26, 2021 (155)
19	1000G_HIGH_COVERAGE	ss5249218862	Oct 12, 2022 (156)
20	1000G_HIGH_COVERAGE	ss5249218864	Oct 12, 2022 (156)
21	HUGCELL_USP	ss5449162995	Oct 12, 2022 (156)
22	HUGCELL_USP	ss5449162997	Oct 12, 2022 (156)
23	HUGCELL_USP	ss5449162998	Oct 12, 2022 (156)
24	HUGCELL_USP	ss5449162999	Oct 12, 2022 (156)
25	TOMMO_GENOMICS	ss5682650682	Oct 12, 2022 (156)
26	TOMMO_GENOMICS	ss5682650683	Oct 12, 2022 (156)
27	TOMMO_GENOMICS	ss5682650685	Oct 12, 2022 (156)
28	gnomAD - Genomes Submission ignored due to conflicting rows: Row 67321479 (NC_000002.12:99483017::A 18933/96086) Row 67321480 (NC_000002.12:99483017::AA 93/96648) Row 67321481 (NC_000002.12:99483017::AAA 25/96722)...	-	Apr 26, 2021 (155)
29	gnomAD - Genomes Submission ignored due to conflicting rows: Row 67321479 (NC_000002.12:99483017::A 18933/96086) Row 67321480 (NC_000002.12:99483017::AA 93/96648) Row 67321481 (NC_000002.12:99483017::AAA 25/96722)...	-	Apr 26, 2021 (155)
30	gnomAD - Genomes Submission ignored due to conflicting rows: Row 67321479 (NC_000002.12:99483017::A 18933/96086) Row 67321480 (NC_000002.12:99483017::AA 93/96648) Row 67321481 (NC_000002.12:99483017::AAA 25/96722)...	-	Apr 26, 2021 (155)
31	gnomAD - Genomes Submission ignored due to conflicting rows: Row 67321479 (NC_000002.12:99483017::A 18933/96086) Row 67321480 (NC_000002.12:99483017::AA 93/96648) Row 67321481 (NC_000002.12:99483017::AAA 25/96722)...	-	Apr 26, 2021 (155)
32	gnomAD - Genomes Submission ignored due to conflicting rows: Row 67321479 (NC_000002.12:99483017::A 18933/96086) Row 67321480 (NC_000002.12:99483017::AA 93/96648) Row 67321481 (NC_000002.12:99483017::AAA 25/96722)...	-	Apr 26, 2021 (155)
33	gnomAD - Genomes Submission ignored due to conflicting rows: Row 67321479 (NC_000002.12:99483017::A 18933/96086) Row 67321480 (NC_000002.12:99483017::AA 93/96648) Row 67321481 (NC_000002.12:99483017::AAA 25/96722)...	-	Apr 26, 2021 (155)
34	Northern Sweden Submission ignored due to conflicting rows: Row 1963184 (NC_000002.11:100099479:A: 177/582) Row 1963185 (NC_000002.11:100099479::A 73/582)	-	Jul 13, 2019 (153)
35	Northern Sweden Submission ignored due to conflicting rows: Row 1963184 (NC_000002.11:100099479:A: 177/582) Row 1963185 (NC_000002.11:100099479::A 73/582)	-	Jul 13, 2019 (153)
36	8.3KJPN Submission ignored due to conflicting rows: Row 10797847 (NC_000002.11:100099479::A 756/16760) Row 10797848 (NC_000002.11:100099479:A: 86/16760) Row 10797849 (NC_000002.11:100099479:AA: 1/16760)	-	Apr 26, 2021 (155)
37	8.3KJPN Submission ignored due to conflicting rows: Row 10797847 (NC_000002.11:100099479::A 756/16760) Row 10797848 (NC_000002.11:100099479:A: 86/16760) Row 10797849 (NC_000002.11:100099479:AA: 1/16760)	-	Apr 26, 2021 (155)
38	8.3KJPN Submission ignored due to conflicting rows: Row 10797847 (NC_000002.11:100099479::A 756/16760) Row 10797848 (NC_000002.11:100099479:A: 86/16760) Row 10797849 (NC_000002.11:100099479:AA: 1/16760)	-	Apr 26, 2021 (155)
39	14KJPN Submission ignored due to conflicting rows: Row 16487786 (NC_000002.12:99483017::A 1251/28256) Row 16487787 (NC_000002.12:99483017:A: 133/28256) Row 16487789 (NC_000002.12:99483017:AA: 1/28256)	-	Oct 12, 2022 (156)
40	14KJPN Submission ignored due to conflicting rows: Row 16487786 (NC_000002.12:99483017::A 1251/28256) Row 16487787 (NC_000002.12:99483017:A: 133/28256) Row 16487789 (NC_000002.12:99483017:AA: 1/28256)	-	Oct 12, 2022 (156)
41	14KJPN Submission ignored due to conflicting rows: Row 16487786 (NC_000002.12:99483017::A 1251/28256) Row 16487787 (NC_000002.12:99483017:A: 133/28256) Row 16487789 (NC_000002.12:99483017:AA: 1/28256)	-	Oct 12, 2022 (156)
42	ALFA	NC_000002.12 - 99483018	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4046928745	NC_000002.12:99483017:AAA:	NC_000002.12:99483017:AAAAAAAAAAAA… NC_000002.12:99483017:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss5152828542	NC_000002.11:100099479:AA:	NC_000002.12:99483017:AAAAAAAAAAAA… NC_000002.12:99483017:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3704471550, ss4046928744, ss5682650685	NC_000002.12:99483017:AA:	NC_000002.12:99483017:AAAAAAAAAAAA… NC_000002.12:99483017:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
4929380217	NC_000002.12:99483017:AAAAAAAAAAAA… NC_000002.12:99483017:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000002.12:99483017:AAAAAAAAAAAA… NC_000002.12:99483017:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3728678319, ss3827115925, ss5152828541	NC_000002.11:100099479:A:	NC_000002.12:99483017:AAAAAAAAAAAA… NC_000002.12:99483017:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3064799306, ss5249218864, ss5449162995, ss5682650683	NC_000002.12:99483017:A:	NC_000002.12:99483017:AAAAAAAAAAAA… NC_000002.12:99483017:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
4929380217	NC_000002.12:99483017:AAAAAAAAAAAA… NC_000002.12:99483017:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000002.12:99483017:AAAAAAAAAAAA… NC_000002.12:99483017:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3704471549	NC_000002.12:99483018:A:	NC_000002.12:99483017:AAAAAAAAAAAA… NC_000002.12:99483017:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3728678320, ss5152828540	NC_000002.11:100099479::A	NC_000002.12:99483017:AAAAAAAAAAAA… NC_000002.12:99483017:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss947058719	NC_000002.11:100099480::A	NC_000002.12:99483017:AAAAAAAAAAAA… NC_000002.12:99483017:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4046928741, ss5249218862, ss5449162997, ss5682650682	NC_000002.12:99483017::A	NC_000002.12:99483017:AAAAAAAAAAAA… NC_000002.12:99483017:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
4929380217	NC_000002.12:99483017:AAAAAAAAAAAA… NC_000002.12:99483017:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000002.12:99483017:AAAAAAAAAAAA… NC_000002.12:99483017:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3704471548	NC_000002.12:99483019::A	NC_000002.12:99483017:AAAAAAAAAAAA… NC_000002.12:99483017:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4046928742, ss5449162998	NC_000002.12:99483017::AA	NC_000002.12:99483017:AAAAAAAAAAAA… NC_000002.12:99483017:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
4929380217	NC_000002.12:99483017:AAAAAAAAAAAA… NC_000002.12:99483017:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000002.12:99483017:AAAAAAAAAAAA… NC_000002.12:99483017:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3704471547	NC_000002.12:99483019::AA	NC_000002.12:99483017:AAAAAAAAAAAA… NC_000002.12:99483017:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss80304474	NT_022171.15:4773325::AA	NC_000002.12:99483017:AAAAAAAAAAAA… NC_000002.12:99483017:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4046928743, ss5449162999	NC_000002.12:99483017::AAA	NC_000002.12:99483017:AAAAAAAAAAAA… NC_000002.12:99483017:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
4929380217	NC_000002.12:99483017:AAAAAAAAAAAA… NC_000002.12:99483017:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000002.12:99483017:AAAAAAAAAAAA… NC_000002.12:99483017:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(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 rs540388372

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

rs540388372