Name: rs60681905
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.

rs60681905

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:135829831-135829856 (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(GT)₄ / del(GT)₃ / delGTGT / de…
del(GT)₄ / del(GT)₃ / delGTGT / delGT / dupGT / dupGTGT / dup(GT)₃ / dup(GT)₄ / dup(GT)₅ / dup(GT)₆ / dup(GT)₇ / dup(GT)₈ / dup(GT)₉ / dup(GT)₁₀
Variation Type: Indel Insertion and Deletion
Frequency: (GT)₁₃=0.2216 (1110/5008, 1000G)
dup(GT)₅=0.1968 (885/4496, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: LCT : 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	4496	GTGTGTGTGTGTGTGTGTGTGTGTGT=0.0091	GTGTGTGTGTGTGTGTGT=0.0000, GTGTGTGTGTGTGTGTGTGT=0.0000, GTGTGTGTGTGTGTGTGTGTGT=0.0000, GTGTGTGTGTGTGTGTGTGTGTGT=0.0000, GTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0080, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0480, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.5941, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.1395, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.1968, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0044, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000	0.568436	0.078911	0.352654	5
European	Sub	4462	GTGTGTGTGTGTGTGTGTGTGTGTGT=0.0034	GTGTGTGTGTGTGTGTGT=0.0000, GTGTGTGTGTGTGTGTGTGT=0.0000, GTGTGTGTGTGTGTGTGTGTGT=0.0000, GTGTGTGTGTGTGTGTGTGTGTGT=0.0000, GTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0081, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0484, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.5975, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.1401, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.1981, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0045, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000	0.568531	0.079021	0.352448	5
African	Sub	24	GTGTGTGTGTGTGTGTGTGTGTGTGT=1.00	GTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00	0	0	0	N/A
African Others	Sub	2	GTGTGTGTGTGTGTGTGTGTGTGTGT=1.0	GTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0	0	0	0	N/A
African American	Sub	22	GTGTGTGTGTGTGTGTGTGTGTGTGT=1.00	GTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00	0	0	0	N/A
Asian	Sub	0	GTGTGTGTGTGTGTGTGTGTGTGTGT=0	GTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0	0	0	0	N/A
East Asian	Sub	0	GTGTGTGTGTGTGTGTGTGTGTGTGT=0	GTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0	0	0	0	N/A
Other Asian	Sub	0	GTGTGTGTGTGTGTGTGTGTGTGTGT=0	GTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0	0	0	0	N/A
Latin American 1	Sub	0	GTGTGTGTGTGTGTGTGTGTGTGTGT=0	GTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0	0	0	0	N/A
Latin American 2	Sub	0	GTGTGTGTGTGTGTGTGTGTGTGTGT=0	GTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0	0	0	0	N/A
South Asian	Sub	0	GTGTGTGTGTGTGTGTGTGTGTGTGT=0	GTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0	0	0	0	N/A
Other	Sub	10	GTGTGTGTGTGTGTGTGTGTGTGTGT=0.2	GTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.5, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.2, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.1, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0, GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0	0.5	0.0	0.5	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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
1000Genomes	Global	Study-wide	5008	- No frequency provided	dup(GT)₅=0.7784
1000Genomes	African	Sub	1322	- No frequency provided	dup(GT)₅=0.6982
1000Genomes	East Asian	Sub	1008	- No frequency provided	dup(GT)₅=0.6786
1000Genomes	Europe	Sub	1006	- No frequency provided	dup(GT)₅=0.8519
1000Genomes	South Asian	Sub	978	- No frequency provided	dup(GT)₅=0.848
1000Genomes	American	Sub	694	- No frequency provided	dup(GT)₅=0.872
Allele Frequency Aggregator	Total	Global	4496	(GT)₁₃=0.0091	del(GT)₄=0.0000, del(GT)₃=0.0000, delGTGT=0.0000, delGT=0.0000, dupGT=0.0080, dupGTGT=0.0480, dup(GT)₃=0.5941, dup(GT)₄=0.1395, dup(GT)₅=0.1968, dup(GT)₆=0.0044, dup(GT)₇=0.0000, dup(GT)₈=0.0000, dup(GT)₉=0.0000, dup(GT)₁₀=0.0000
Allele Frequency Aggregator	European	Sub	4462	(GT)₁₃=0.0034	del(GT)₄=0.0000, del(GT)₃=0.0000, delGTGT=0.0000, delGT=0.0000, dupGT=0.0081, dupGTGT=0.0484, dup(GT)₃=0.5975, dup(GT)₄=0.1401, dup(GT)₅=0.1981, dup(GT)₆=0.0045, dup(GT)₇=0.0000, dup(GT)₈=0.0000, dup(GT)₉=0.0000, dup(GT)₁₀=0.0000
Allele Frequency Aggregator	African	Sub	24	(GT)₁₃=1.00	del(GT)₄=0.00, del(GT)₃=0.00, delGTGT=0.00, delGT=0.00, dupGT=0.00, dupGTGT=0.00, dup(GT)₃=0.00, dup(GT)₄=0.00, dup(GT)₅=0.00, dup(GT)₆=0.00, dup(GT)₇=0.00, dup(GT)₈=0.00, dup(GT)₉=0.00, dup(GT)₁₀=0.00
Allele Frequency Aggregator	Other	Sub	10	(GT)₁₃=0.2	del(GT)₄=0.0, del(GT)₃=0.0, delGTGT=0.0, delGT=0.0, dupGT=0.0, dupGTGT=0.0, dup(GT)₃=0.5, dup(GT)₄=0.2, dup(GT)₅=0.1, dup(GT)₆=0.0, dup(GT)₇=0.0, dup(GT)₈=0.0, dup(GT)₉=0.0, dup(GT)₁₀=0.0
Allele Frequency Aggregator	Latin American 1	Sub	0	(GT)₁₃=0	del(GT)₄=0, del(GT)₃=0, delGTGT=0, delGT=0, dupGT=0, dupGTGT=0, dup(GT)₃=0, dup(GT)₄=0, dup(GT)₅=0, dup(GT)₆=0, dup(GT)₇=0, dup(GT)₈=0, dup(GT)₉=0, dup(GT)₁₀=0
Allele Frequency Aggregator	Latin American 2	Sub	0	(GT)₁₃=0	del(GT)₄=0, del(GT)₃=0, delGTGT=0, delGT=0, dupGT=0, dupGTGT=0, dup(GT)₃=0, dup(GT)₄=0, dup(GT)₅=0, dup(GT)₆=0, dup(GT)₇=0, dup(GT)₈=0, dup(GT)₉=0, dup(GT)₁₀=0
Allele Frequency Aggregator	South Asian	Sub	0	(GT)₁₃=0	del(GT)₄=0, del(GT)₃=0, delGTGT=0, delGT=0, dupGT=0, dupGTGT=0, dup(GT)₃=0, dup(GT)₄=0, dup(GT)₅=0, dup(GT)₆=0, dup(GT)₇=0, dup(GT)₈=0, dup(GT)₉=0, dup(GT)₁₀=0
Allele Frequency Aggregator	Asian	Sub	0	(GT)₁₃=0	del(GT)₄=0, del(GT)₃=0, delGTGT=0, delGT=0, dupGT=0, dupGTGT=0, dup(GT)₃=0, dup(GT)₄=0, dup(GT)₅=0, dup(GT)₆=0, dup(GT)₇=0, dup(GT)₈=0, dup(GT)₉=0, dup(GT)₁₀=0

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.135829831GT[9]
GRCh38.p14 chr 2	NC_000002.12:g.135829831GT[10]
GRCh38.p14 chr 2	NC_000002.12:g.135829831GT[11]
GRCh38.p14 chr 2	NC_000002.12:g.135829831GT[12]
GRCh38.p14 chr 2	NC_000002.12:g.135829831GT[14]
GRCh38.p14 chr 2	NC_000002.12:g.135829831GT[15]
GRCh38.p14 chr 2	NC_000002.12:g.135829831GT[16]
GRCh38.p14 chr 2	NC_000002.12:g.135829831GT[17]
GRCh38.p14 chr 2	NC_000002.12:g.135829831GT[18]
GRCh38.p14 chr 2	NC_000002.12:g.135829831GT[19]
GRCh38.p14 chr 2	NC_000002.12:g.135829831GT[20]
GRCh38.p14 chr 2	NC_000002.12:g.135829831GT[21]
GRCh38.p14 chr 2	NC_000002.12:g.135829831GT[22]
GRCh38.p14 chr 2	NC_000002.12:g.135829831GT[23]
GRCh37.p13 chr 2	NC_000002.11:g.136587401GT[9]
GRCh37.p13 chr 2	NC_000002.11:g.136587401GT[10]
GRCh37.p13 chr 2	NC_000002.11:g.136587401GT[11]
GRCh37.p13 chr 2	NC_000002.11:g.136587401GT[12]
GRCh37.p13 chr 2	NC_000002.11:g.136587401GT[14]
GRCh37.p13 chr 2	NC_000002.11:g.136587401GT[15]
GRCh37.p13 chr 2	NC_000002.11:g.136587401GT[16]
GRCh37.p13 chr 2	NC_000002.11:g.136587401GT[17]
GRCh37.p13 chr 2	NC_000002.11:g.136587401GT[18]
GRCh37.p13 chr 2	NC_000002.11:g.136587401GT[19]
GRCh37.p13 chr 2	NC_000002.11:g.136587401GT[20]
GRCh37.p13 chr 2	NC_000002.11:g.136587401GT[21]
GRCh37.p13 chr 2	NC_000002.11:g.136587401GT[22]
GRCh37.p13 chr 2	NC_000002.11:g.136587401GT[23]
LCT RefSeqGene (LRG_338)	NG_008104.2:g.30314AC[9]
LCT RefSeqGene (LRG_338)	NG_008104.2:g.30314AC[10]
LCT RefSeqGene (LRG_338)	NG_008104.2:g.30314AC[11]
LCT RefSeqGene (LRG_338)	NG_008104.2:g.30314AC[12]
LCT RefSeqGene (LRG_338)	NG_008104.2:g.30314AC[14]
LCT RefSeqGene (LRG_338)	NG_008104.2:g.30314AC[15]
LCT RefSeqGene (LRG_338)	NG_008104.2:g.30314AC[16]
LCT RefSeqGene (LRG_338)	NG_008104.2:g.30314AC[17]
LCT RefSeqGene (LRG_338)	NG_008104.2:g.30314AC[18]
LCT RefSeqGene (LRG_338)	NG_008104.2:g.30314AC[19]
LCT RefSeqGene (LRG_338)	NG_008104.2:g.30314AC[20]
LCT RefSeqGene (LRG_338)	NG_008104.2:g.30314AC[21]
LCT RefSeqGene (LRG_338)	NG_008104.2:g.30314AC[22]
LCT RefSeqGene (LRG_338)	NG_008104.2:g.30314AC[23]

Gene: LCT, lactase (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LCT transcript	NM_002299.4:c.721-180AC[9]	N/A	Intron Variant
LCT transcript variant X1	XM_017004088.3:c.721-180A… XM_017004088.3:c.721-180AC[9]	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	(GT)₁₃=	del(GT)₄	del(GT)₃	delGTGT	delGT	dupGT	dupGTGT	dup(GT)₃	dup(GT)₄	dup(GT)₅	dup(GT)₆	dup(GT)₇	dup(GT)₈	dup(GT)₉	dup(GT)₁₀
GRCh38.p14 chr 2	NC_000002.12:g.135829831_135829856=	NC_000002.12:g.135829831GT[9]	NC_000002.12:g.135829831GT[10]	NC_000002.12:g.135829831GT[11]	NC_000002.12:g.135829831GT[12]	NC_000002.12:g.135829831GT[14]	NC_000002.12:g.135829831GT[15]	NC_000002.12:g.135829831GT[16]	NC_000002.12:g.135829831GT[17]	NC_000002.12:g.135829831GT[18]	NC_000002.12:g.135829831GT[19]	NC_000002.12:g.135829831GT[20]	NC_000002.12:g.135829831GT[21]	NC_000002.12:g.135829831GT[22]	NC_000002.12:g.135829831GT[23]
GRCh37.p13 chr 2	NC_000002.11:g.136587401_136587426=	NC_000002.11:g.136587401GT[9]	NC_000002.11:g.136587401GT[10]	NC_000002.11:g.136587401GT[11]	NC_000002.11:g.136587401GT[12]	NC_000002.11:g.136587401GT[14]	NC_000002.11:g.136587401GT[15]	NC_000002.11:g.136587401GT[16]	NC_000002.11:g.136587401GT[17]	NC_000002.11:g.136587401GT[18]	NC_000002.11:g.136587401GT[19]	NC_000002.11:g.136587401GT[20]	NC_000002.11:g.136587401GT[21]	NC_000002.11:g.136587401GT[22]	NC_000002.11:g.136587401GT[23]
LCT RefSeqGene (LRG_338)	NG_008104.2:g.30314_30339=	NG_008104.2:g.30314AC[9]	NG_008104.2:g.30314AC[10]	NG_008104.2:g.30314AC[11]	NG_008104.2:g.30314AC[12]	NG_008104.2:g.30314AC[14]	NG_008104.2:g.30314AC[15]	NG_008104.2:g.30314AC[16]	NG_008104.2:g.30314AC[17]	NG_008104.2:g.30314AC[18]	NG_008104.2:g.30314AC[19]	NG_008104.2:g.30314AC[20]	NG_008104.2:g.30314AC[21]	NG_008104.2:g.30314AC[22]	NG_008104.2:g.30314AC[23]
LCT transcript	NM_002299.2:c.721-155=	NM_002299.2:c.721-180AC[9]	NM_002299.2:c.721-180AC[10]	NM_002299.2:c.721-180AC[11]	NM_002299.2:c.721-180AC[12]	NM_002299.2:c.721-180AC[14]	NM_002299.2:c.721-180AC[15]	NM_002299.2:c.721-180AC[16]	NM_002299.2:c.721-180AC[17]	NM_002299.2:c.721-180AC[18]	NM_002299.2:c.721-180AC[19]	NM_002299.2:c.721-180AC[20]	NM_002299.2:c.721-180AC[21]	NM_002299.2:c.721-180AC[22]	NM_002299.2:c.721-180AC[23]
LCT transcript	NM_002299.4:c.721-155=	NM_002299.4:c.721-180AC[9]	NM_002299.4:c.721-180AC[10]	NM_002299.4:c.721-180AC[11]	NM_002299.4:c.721-180AC[12]	NM_002299.4:c.721-180AC[14]	NM_002299.4:c.721-180AC[15]	NM_002299.4:c.721-180AC[16]	NM_002299.4:c.721-180AC[17]	NM_002299.4:c.721-180AC[18]	NM_002299.4:c.721-180AC[19]	NM_002299.4:c.721-180AC[20]	NM_002299.4:c.721-180AC[21]	NM_002299.4:c.721-180AC[22]	NM_002299.4:c.721-180AC[23]
LCT transcript variant X1	XM_017004088.3:c.721-155=	XM_017004088.3:c.721-180AC[9]	XM_017004088.3:c.721-180AC[10]	XM_017004088.3:c.721-180AC[11]	XM_017004088.3:c.721-180AC[12]	XM_017004088.3:c.721-180AC[14]	XM_017004088.3:c.721-180AC[15]	XM_017004088.3:c.721-180AC[16]	XM_017004088.3:c.721-180AC[17]	XM_017004088.3:c.721-180AC[18]	XM_017004088.3:c.721-180AC[19]	XM_017004088.3:c.721-180AC[20]	XM_017004088.3:c.721-180AC[21]	XM_017004088.3:c.721-180AC[22]	XM_017004088.3:c.721-180AC[23]

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#.

83 SubSNP, 44 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss80960844	Dec 15, 2007 (129)
2	HGSV	ss81793278	Dec 15, 2007 (129)
3	HGSV	ss83056254	Dec 15, 2007 (129)
4	HUMANGENOME_JCVI	ss95285739	Feb 04, 2009 (130)
5	BUSHMAN	ss193565199	Oct 11, 2018 (152)
6	GMI	ss288223746	May 04, 2012 (138)
7	1000GENOMES	ss326250434	Oct 11, 2018 (152)
8	1000GENOMES	ss326265252	Oct 11, 2018 (152)
9	1000GENOMES	ss326343971	Oct 11, 2018 (152)
10	LUNTER	ss551125008	Oct 11, 2018 (152)
11	LUNTER	ss551184048	Oct 11, 2018 (152)
12	LUNTER	ss552932083	Oct 11, 2018 (152)
13	SSIP	ss947063518	Oct 11, 2018 (152)
14	1000GENOMES	ss1368819538	Oct 11, 2018 (152)
15	DDI	ss1536307914	Oct 11, 2018 (152)
16	EVA_UK10K_ALSPAC	ss1703180289	Oct 11, 2018 (152)
17	EVA_UK10K_TWINSUK	ss1703180292	Oct 11, 2018 (152)
18	EVA_UK10K_ALSPAC	ss1703180293	Oct 11, 2018 (152)
19	EVA_UK10K_TWINSUK	ss1703180296	Oct 11, 2018 (152)
20	EVA_UK10K_ALSPAC	ss1703180297	Oct 11, 2018 (152)
21	EVA_UK10K_TWINSUK	ss1703180300	Oct 11, 2018 (152)
22	SWEGEN	ss2990481337	Oct 11, 2018 (152)
23	SWEGEN	ss2990481338	Oct 11, 2018 (152)
24	SWEGEN	ss2990481339	Oct 11, 2018 (152)
25	SWEGEN	ss2990481340	Oct 11, 2018 (152)
26	SWEGEN	ss2990481341	Oct 11, 2018 (152)
27	SWEGEN	ss2990481342	Oct 11, 2018 (152)
28	MCHAISSO	ss3063957059	Oct 11, 2018 (152)
29	MCHAISSO	ss3064810016	Oct 11, 2018 (152)
30	MCHAISSO	ss3064810017	Oct 11, 2018 (152)
31	MCHAISSO	ss3065767692	Oct 11, 2018 (152)
32	URBANLAB	ss3647151333	Oct 11, 2018 (152)
33	ACPOP	ss3728894890	Jul 13, 2019 (153)
34	ACPOP	ss3728894891	Jul 13, 2019 (153)
35	ACPOP	ss3728894892	Jul 13, 2019 (153)
36	ACPOP	ss3728894893	Jul 13, 2019 (153)
37	PACBIO	ss3784002554	Jul 13, 2019 (153)
38	PACBIO	ss3789564647	Jul 13, 2019 (153)
39	PACBIO	ss3794437565	Jul 13, 2019 (153)
40	KHV_HUMAN_GENOMES	ss3801789098	Jul 13, 2019 (153)
41	EVA	ss3842451413	Apr 25, 2020 (154)
42	KOGIC	ss3949036007	Apr 25, 2020 (154)
43	KOGIC	ss3949036008	Apr 25, 2020 (154)
44	KOGIC	ss3949036009	Apr 25, 2020 (154)
45	KOGIC	ss3949036010	Apr 25, 2020 (154)
46	KOGIC	ss3949036011	Apr 25, 2020 (154)
47	KOGIC	ss3949036012	Apr 25, 2020 (154)
48	GNOMAD	ss4051319782	Apr 27, 2021 (155)
49	GNOMAD	ss4051319783	Apr 27, 2021 (155)
50	GNOMAD	ss4051319784	Apr 27, 2021 (155)
51	GNOMAD	ss4051319785	Apr 27, 2021 (155)
52	GNOMAD	ss4051319786	Apr 27, 2021 (155)
53	GNOMAD	ss4051319787	Apr 27, 2021 (155)
54	GNOMAD	ss4051319788	Apr 27, 2021 (155)
55	GNOMAD	ss4051319789	Apr 27, 2021 (155)
56	GNOMAD	ss4051319790	Apr 27, 2021 (155)
57	GNOMAD	ss4051319791	Apr 27, 2021 (155)
58	GNOMAD	ss4051319795	Apr 27, 2021 (155)
59	GNOMAD	ss4051319796	Apr 27, 2021 (155)
60	GNOMAD	ss4051319797	Apr 27, 2021 (155)
61	GNOMAD	ss4051319798	Apr 27, 2021 (155)
62	TOMMO_GENOMICS	ss5154020137	Apr 27, 2021 (155)
63	TOMMO_GENOMICS	ss5154020138	Apr 27, 2021 (155)
64	TOMMO_GENOMICS	ss5154020139	Apr 27, 2021 (155)
65	TOMMO_GENOMICS	ss5154020140	Apr 27, 2021 (155)
66	TOMMO_GENOMICS	ss5154020141	Apr 27, 2021 (155)
67	TOMMO_GENOMICS	ss5154020142	Apr 27, 2021 (155)
68	1000G_HIGH_COVERAGE	ss5250132206	Oct 12, 2022 (156)
69	1000G_HIGH_COVERAGE	ss5250132207	Oct 12, 2022 (156)
70	1000G_HIGH_COVERAGE	ss5250132208	Oct 12, 2022 (156)
71	1000G_HIGH_COVERAGE	ss5250132209	Oct 12, 2022 (156)
72	1000G_HIGH_COVERAGE	ss5250132210	Oct 12, 2022 (156)
73	1000G_HIGH_COVERAGE	ss5250132211	Oct 12, 2022 (156)
74	TOMMO_GENOMICS	ss5684191116	Oct 12, 2022 (156)
75	TOMMO_GENOMICS	ss5684191117	Oct 12, 2022 (156)
76	TOMMO_GENOMICS	ss5684191118	Oct 12, 2022 (156)
77	TOMMO_GENOMICS	ss5684191119	Oct 12, 2022 (156)
78	TOMMO_GENOMICS	ss5684191120	Oct 12, 2022 (156)
79	TOMMO_GENOMICS	ss5684191121	Oct 12, 2022 (156)
80	EVA	ss5820850727	Oct 12, 2022 (156)
81	EVA	ss5820850728	Oct 12, 2022 (156)
82	EVA	ss5820850729	Oct 12, 2022 (156)
83	EVA	ss5932503685	Oct 12, 2022 (156)
84	1000Genomes	NC_000002.11 - 136587401	Oct 11, 2018 (152)
85	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 5770763 (NC_000002.11:136587400::GTGTGT 3194/3854) Row 5770764 (NC_000002.11:136587400::GTGTGTGT 362/3854) Row 5770765 (NC_000002.11:136587400::GTGTGTGTGT 290/3854)	-	Oct 11, 2018 (152)
86	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 5770763 (NC_000002.11:136587400::GTGTGT 3194/3854) Row 5770764 (NC_000002.11:136587400::GTGTGTGT 362/3854) Row 5770765 (NC_000002.11:136587400::GTGTGTGTGT 290/3854)	-	Oct 11, 2018 (152)
87	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 5770763 (NC_000002.11:136587400::GTGTGT 3194/3854) Row 5770764 (NC_000002.11:136587400::GTGTGTGT 362/3854) Row 5770765 (NC_000002.11:136587400::GTGTGTGTGT 290/3854)	-	Oct 11, 2018 (152)
88	gnomAD - Genomes Submission ignored due to conflicting rows: Row 74726044 (NC_000002.12:135829830::GT 1441/135104) Row 74726045 (NC_000002.12:135829830::GTGT 10005/134548) Row 74726046 (NC_000002.12:135829830::GTGTGT 67220/134956)...	-	Apr 27, 2021 (155)
89	gnomAD - Genomes Submission ignored due to conflicting rows: Row 74726044 (NC_000002.12:135829830::GT 1441/135104) Row 74726045 (NC_000002.12:135829830::GTGT 10005/134548) Row 74726046 (NC_000002.12:135829830::GTGTGT 67220/134956)...	-	Apr 27, 2021 (155)
90	gnomAD - Genomes Submission ignored due to conflicting rows: Row 74726044 (NC_000002.12:135829830::GT 1441/135104) Row 74726045 (NC_000002.12:135829830::GTGT 10005/134548) Row 74726046 (NC_000002.12:135829830::GTGTGT 67220/134956)...	-	Apr 27, 2021 (155)
91	gnomAD - Genomes Submission ignored due to conflicting rows: Row 74726044 (NC_000002.12:135829830::GT 1441/135104) Row 74726045 (NC_000002.12:135829830::GTGT 10005/134548) Row 74726046 (NC_000002.12:135829830::GTGTGT 67220/134956)...	-	Apr 27, 2021 (155)
92	gnomAD - Genomes Submission ignored due to conflicting rows: Row 74726044 (NC_000002.12:135829830::GT 1441/135104) Row 74726045 (NC_000002.12:135829830::GTGT 10005/134548) Row 74726046 (NC_000002.12:135829830::GTGTGT 67220/134956)...	-	Apr 27, 2021 (155)
93	gnomAD - Genomes Submission ignored due to conflicting rows: Row 74726044 (NC_000002.12:135829830::GT 1441/135104) Row 74726045 (NC_000002.12:135829830::GTGT 10005/134548) Row 74726046 (NC_000002.12:135829830::GTGTGT 67220/134956)...	-	Apr 27, 2021 (155)
94	gnomAD - Genomes Submission ignored due to conflicting rows: Row 74726044 (NC_000002.12:135829830::GT 1441/135104) Row 74726045 (NC_000002.12:135829830::GTGT 10005/134548) Row 74726046 (NC_000002.12:135829830::GTGTGT 67220/134956)...	-	Apr 27, 2021 (155)
95	gnomAD - Genomes Submission ignored due to conflicting rows: Row 74726044 (NC_000002.12:135829830::GT 1441/135104) Row 74726045 (NC_000002.12:135829830::GTGT 10005/134548) Row 74726046 (NC_000002.12:135829830::GTGTGT 67220/134956)...	-	Apr 27, 2021 (155)
96	gnomAD - Genomes Submission ignored due to conflicting rows: Row 74726044 (NC_000002.12:135829830::GT 1441/135104) Row 74726045 (NC_000002.12:135829830::GTGT 10005/134548) Row 74726046 (NC_000002.12:135829830::GTGTGT 67220/134956)...	-	Apr 27, 2021 (155)
97	gnomAD - Genomes Submission ignored due to conflicting rows: Row 74726044 (NC_000002.12:135829830::GT 1441/135104) Row 74726045 (NC_000002.12:135829830::GTGT 10005/134548) Row 74726046 (NC_000002.12:135829830::GTGTGT 67220/134956)...	-	Apr 27, 2021 (155)
98	gnomAD - Genomes Submission ignored due to conflicting rows: Row 74726044 (NC_000002.12:135829830::GT 1441/135104) Row 74726045 (NC_000002.12:135829830::GTGT 10005/134548) Row 74726046 (NC_000002.12:135829830::GTGTGT 67220/134956)...	-	Apr 27, 2021 (155)
99	gnomAD - Genomes Submission ignored due to conflicting rows: Row 74726044 (NC_000002.12:135829830::GT 1441/135104) Row 74726045 (NC_000002.12:135829830::GTGT 10005/134548) Row 74726046 (NC_000002.12:135829830::GTGTGT 67220/134956)...	-	Apr 27, 2021 (155)
100	gnomAD - Genomes Submission ignored due to conflicting rows: Row 74726044 (NC_000002.12:135829830::GT 1441/135104) Row 74726045 (NC_000002.12:135829830::GTGT 10005/134548) Row 74726046 (NC_000002.12:135829830::GTGTGT 67220/134956)...	-	Apr 27, 2021 (155)
101	gnomAD - Genomes Submission ignored due to conflicting rows: Row 74726044 (NC_000002.12:135829830::GT 1441/135104) Row 74726045 (NC_000002.12:135829830::GTGT 10005/134548) Row 74726046 (NC_000002.12:135829830::GTGTGT 67220/134956)...	-	Apr 27, 2021 (155)
102	Korean Genome Project Submission ignored due to conflicting rows: Row 5414008 (NC_000002.12:135829830::GTGT 159/1832) Row 5414009 (NC_000002.12:135829830::GTGTGT 618/1832) Row 5414010 (NC_000002.12:135829830::GTGTGTGT 392/1832)...	-	Apr 25, 2020 (154)
103	Korean Genome Project Submission ignored due to conflicting rows: Row 5414008 (NC_000002.12:135829830::GTGT 159/1832) Row 5414009 (NC_000002.12:135829830::GTGTGT 618/1832) Row 5414010 (NC_000002.12:135829830::GTGTGTGT 392/1832)...	-	Apr 25, 2020 (154)
104	Korean Genome Project Submission ignored due to conflicting rows: Row 5414008 (NC_000002.12:135829830::GTGT 159/1832) Row 5414009 (NC_000002.12:135829830::GTGTGT 618/1832) Row 5414010 (NC_000002.12:135829830::GTGTGTGT 392/1832)...	-	Apr 25, 2020 (154)
105	Korean Genome Project Submission ignored due to conflicting rows: Row 5414008 (NC_000002.12:135829830::GTGT 159/1832) Row 5414009 (NC_000002.12:135829830::GTGTGT 618/1832) Row 5414010 (NC_000002.12:135829830::GTGTGTGT 392/1832)...	-	Apr 25, 2020 (154)
106	Korean Genome Project Submission ignored due to conflicting rows: Row 5414008 (NC_000002.12:135829830::GTGT 159/1832) Row 5414009 (NC_000002.12:135829830::GTGTGT 618/1832) Row 5414010 (NC_000002.12:135829830::GTGTGTGT 392/1832)...	-	Apr 25, 2020 (154)
107	Korean Genome Project Submission ignored due to conflicting rows: Row 5414008 (NC_000002.12:135829830::GTGT 159/1832) Row 5414009 (NC_000002.12:135829830::GTGTGT 618/1832) Row 5414010 (NC_000002.12:135829830::GTGTGTGT 392/1832)...	-	Apr 25, 2020 (154)
108	Northern Sweden Submission ignored due to conflicting rows: Row 2179755 (NC_000002.11:136587400::GTGTGT 484/600) Row 2179756 (NC_000002.11:136587400::GTGTGTGTGT 51/600) Row 2179757 (NC_000002.11:136587400::GTGTGTGT 54/600)...	-	Jul 13, 2019 (153)
109	Northern Sweden Submission ignored due to conflicting rows: Row 2179755 (NC_000002.11:136587400::GTGTGT 484/600) Row 2179756 (NC_000002.11:136587400::GTGTGTGTGT 51/600) Row 2179757 (NC_000002.11:136587400::GTGTGTGT 54/600)...	-	Jul 13, 2019 (153)
110	Northern Sweden Submission ignored due to conflicting rows: Row 2179755 (NC_000002.11:136587400::GTGTGT 484/600) Row 2179756 (NC_000002.11:136587400::GTGTGTGTGT 51/600) Row 2179757 (NC_000002.11:136587400::GTGTGTGT 54/600)...	-	Jul 13, 2019 (153)
111	Northern Sweden Submission ignored due to conflicting rows: Row 2179755 (NC_000002.11:136587400::GTGTGT 484/600) Row 2179756 (NC_000002.11:136587400::GTGTGTGTGT 51/600) Row 2179757 (NC_000002.11:136587400::GTGTGTGT 54/600)...	-	Jul 13, 2019 (153)
112	8.3KJPN Submission ignored due to conflicting rows: Row 11989444 (NC_000002.11:136587400::GTGTGT 5718/16750) Row 11989445 (NC_000002.11:136587400::GT 2267/16750) Row 11989446 (NC_000002.11:136587400::GTGTGTGT 4854/16750)...	-	Apr 27, 2021 (155)
113	8.3KJPN Submission ignored due to conflicting rows: Row 11989444 (NC_000002.11:136587400::GTGTGT 5718/16750) Row 11989445 (NC_000002.11:136587400::GT 2267/16750) Row 11989446 (NC_000002.11:136587400::GTGTGTGT 4854/16750)...	-	Apr 27, 2021 (155)
114	8.3KJPN Submission ignored due to conflicting rows: Row 11989444 (NC_000002.11:136587400::GTGTGT 5718/16750) Row 11989445 (NC_000002.11:136587400::GT 2267/16750) Row 11989446 (NC_000002.11:136587400::GTGTGTGT 4854/16750)...	-	Apr 27, 2021 (155)
115	8.3KJPN Submission ignored due to conflicting rows: Row 11989444 (NC_000002.11:136587400::GTGTGT 5718/16750) Row 11989445 (NC_000002.11:136587400::GT 2267/16750) Row 11989446 (NC_000002.11:136587400::GTGTGTGT 4854/16750)...	-	Apr 27, 2021 (155)
116	8.3KJPN Submission ignored due to conflicting rows: Row 11989444 (NC_000002.11:136587400::GTGTGT 5718/16750) Row 11989445 (NC_000002.11:136587400::GT 2267/16750) Row 11989446 (NC_000002.11:136587400::GTGTGTGT 4854/16750)...	-	Apr 27, 2021 (155)
117	8.3KJPN Submission ignored due to conflicting rows: Row 11989444 (NC_000002.11:136587400::GTGTGT 5718/16750) Row 11989445 (NC_000002.11:136587400::GT 2267/16750) Row 11989446 (NC_000002.11:136587400::GTGTGTGT 4854/16750)...	-	Apr 27, 2021 (155)
118	14KJPN Submission ignored due to conflicting rows: Row 18028220 (NC_000002.12:135829830::GT 3807/28254) Row 18028221 (NC_000002.12:135829830::GTGTGTGTGT 3751/28254) Row 18028222 (NC_000002.12:135829830::GTGTGT 9768/28254)...	-	Oct 12, 2022 (156)
119	14KJPN Submission ignored due to conflicting rows: Row 18028220 (NC_000002.12:135829830::GT 3807/28254) Row 18028221 (NC_000002.12:135829830::GTGTGTGTGT 3751/28254) Row 18028222 (NC_000002.12:135829830::GTGTGT 9768/28254)...	-	Oct 12, 2022 (156)
120	14KJPN Submission ignored due to conflicting rows: Row 18028220 (NC_000002.12:135829830::GT 3807/28254) Row 18028221 (NC_000002.12:135829830::GTGTGTGTGT 3751/28254) Row 18028222 (NC_000002.12:135829830::GTGTGT 9768/28254)...	-	Oct 12, 2022 (156)
121	14KJPN Submission ignored due to conflicting rows: Row 18028220 (NC_000002.12:135829830::GT 3807/28254) Row 18028221 (NC_000002.12:135829830::GTGTGTGTGT 3751/28254) Row 18028222 (NC_000002.12:135829830::GTGTGT 9768/28254)...	-	Oct 12, 2022 (156)
122	14KJPN Submission ignored due to conflicting rows: Row 18028220 (NC_000002.12:135829830::GT 3807/28254) Row 18028221 (NC_000002.12:135829830::GTGTGTGTGT 3751/28254) Row 18028222 (NC_000002.12:135829830::GTGTGT 9768/28254)...	-	Oct 12, 2022 (156)
123	14KJPN Submission ignored due to conflicting rows: Row 18028220 (NC_000002.12:135829830::GT 3807/28254) Row 18028221 (NC_000002.12:135829830::GTGTGTGTGT 3751/28254) Row 18028222 (NC_000002.12:135829830::GTGTGT 9768/28254)...	-	Oct 12, 2022 (156)
124	UK 10K study - Twins Submission ignored due to conflicting rows: Row 5770763 (NC_000002.11:136587400::GTGTGT 2651/3708) Row 5770764 (NC_000002.11:136587400::GTGTGTGT 791/3708) Row 5770765 (NC_000002.11:136587400::GTGTGTGTGT 263/3708)	-	Oct 11, 2018 (152)
125	UK 10K study - Twins Submission ignored due to conflicting rows: Row 5770763 (NC_000002.11:136587400::GTGTGT 2651/3708) Row 5770764 (NC_000002.11:136587400::GTGTGTGT 791/3708) Row 5770765 (NC_000002.11:136587400::GTGTGTGTGT 263/3708)	-	Oct 11, 2018 (152)
126	UK 10K study - Twins Submission ignored due to conflicting rows: Row 5770763 (NC_000002.11:136587400::GTGTGT 2651/3708) Row 5770764 (NC_000002.11:136587400::GTGTGTGT 791/3708) Row 5770765 (NC_000002.11:136587400::GTGTGTGTGT 263/3708)	-	Oct 11, 2018 (152)
127	ALFA	NC_000002.12 - 135829831	Apr 27, 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)
rs201957514	Apr 25, 2013 (138)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4051319798	NC_000002.12:135829830:GTGTGTGT:	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT	(self)
1358692629	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGT	(self)
ss4051319797	NC_000002.12:135829830:GTGTGT:	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT	(self)
1358692629	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGT	(self)
ss4051319796	NC_000002.12:135829830:GTGT:	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT	(self)
1358692629	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT	(self)
ss4051319795	NC_000002.12:135829830:GT:	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT	(self)
1358692629	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss947063518, ss2990481342, ss5154020138	NC_000002.11:136587400::GT	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss3949036010, ss4051319782, ss5250132211, ss5684191116	NC_000002.12:135829830::GT	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
1358692629	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss1536307914, ss2990481339, ss3728894893, ss5154020141	NC_000002.11:136587400::GTGT	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss3065767692, ss3949036007, ss4051319783, ss5250132208, ss5684191121	NC_000002.12:135829830::GTGT	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
1358692629	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss83056254	NT_022135.16:26336089::GTGT	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss326250434, ss326265252, ss551125008	NC_000002.10:136303870::GTGTGT	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss288223746	NC_000002.10:136303896::GTGTGT	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss1703180289, ss1703180292, ss2990481337, ss3728894890, ss5154020137, ss5820850728	NC_000002.11:136587400::GTGTGT	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss3064810016, ss3842451413, ss3949036008, ss4051319784, ss5250132209, ss5684191118, ss5932503685	NC_000002.12:135829830::GTGTGT	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
1358692629	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss3647151333	NC_000002.12:135829852::GTGTGT	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss80960844, ss95285739	NT_022135.16:26336089::GTGTGT	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss326343971	NC_000002.10:136303870::GTGTGTGT	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss1703180293, ss1703180296, ss2990481340, ss3728894892, ss5154020139, ss5820850729	NC_000002.11:136587400::GTGTGTGT	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss3063957059, ss3949036009, ss4051319785, ss5250132206, ss5684191119	NC_000002.12:135829830::GTGTGTGT	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
1358692629	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss193565199	NT_005403.18:41333815::GTGTGTGT	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss551184048, ss552932083	NC_000002.10:136303870::GTGTGTGTGT	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
10480873, ss1368819538, ss1703180297, ss1703180300, ss2990481338, ss3728894891, ss3784002554, ss3789564647, ss3794437565, ss5154020140, ss5820850727	NC_000002.11:136587400::GTGTGTGTGT	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss3064810017, ss3801789098, ss3949036012, ss4051319786, ss5250132207, ss5684191117	NC_000002.12:135829830::GTGTGTGTGT	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
1358692629	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss81793278	NT_022135.16:26336089::GTGTGTGTGT	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss2990481341, ss5154020142	NC_000002.11:136587400::GTGTGTGTGT… NC_000002.11:136587400::GTGTGTGTGTGT	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss3949036011, ss4051319787, ss5250132210, ss5684191120	NC_000002.12:135829830::GTGTGTGTGT… NC_000002.12:135829830::GTGTGTGTGTGT	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
1358692629	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss4051319788	NC_000002.12:135829830::GTGTGTGTGT… NC_000002.12:135829830::GTGTGTGTGTGTGT	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
1358692629	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss4051319789	NC_000002.12:135829830::GTGTGTGTGT… NC_000002.12:135829830::GTGTGTGTGTGTGTGT	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
1358692629	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss4051319790	NC_000002.12:135829830::GTGTGTGTGT… NC_000002.12:135829830::GTGTGTGTGTGTGTGTGT	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
1358692629	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss4051319791	NC_000002.12:135829830::GTGTGTGTGT… NC_000002.12:135829830::GTGTGTGTGTGTGTGTGTGT	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
1358692629	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	NC_000002.12:135829830:GTGTGTGTGTG… NC_000002.12:135829830:GTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(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 rs60681905

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
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NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs60681905