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dbSNP Short Genetic Variations

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.

rs1167186423

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr19:54358398-54358411 (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(AT)3 / delATAT / delAT / dupAT
Variation Type
Indel Insertion and Deletion
Frequency
delAT=0.0016 (8/4880, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
LAIR1 : Intron Variant
LILRB2 : 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 4880 ATATATATATATAT=0.9982 ATATATAT=0.0000, ATATATATAT=0.0000, ATATATATATAT=0.0016, ATATATATATATATAT=0.0002 0.99672 0.0 0.00328 0
European Sub 4600 ATATATATATATAT=0.9980 ATATATAT=0.0000, ATATATATAT=0.0000, ATATATATATAT=0.0017, ATATATATATATATAT=0.0002 0.99652 0.0 0.00348 0
African Sub 216 ATATATATATATAT=1.000 ATATATAT=0.000, ATATATATAT=0.000, ATATATATATAT=0.000, ATATATATATATATAT=0.000 1.0 0.0 0.0 N/A
African Others Sub 10 ATATATATATATAT=1.0 ATATATAT=0.0, ATATATATAT=0.0, ATATATATATAT=0.0, ATATATATATATATAT=0.0 1.0 0.0 0.0 N/A
African American Sub 206 ATATATATATATAT=1.000 ATATATAT=0.000, ATATATATAT=0.000, ATATATATATAT=0.000, ATATATATATATATAT=0.000 1.0 0.0 0.0 N/A
Asian Sub 4 ATATATATATATAT=1.0 ATATATAT=0.0, ATATATATAT=0.0, ATATATATATAT=0.0, ATATATATATATATAT=0.0 1.0 0.0 0.0 N/A
East Asian Sub 4 ATATATATATATAT=1.0 ATATATAT=0.0, ATATATATAT=0.0, ATATATATATAT=0.0, ATATATATATATATAT=0.0 1.0 0.0 0.0 N/A
Other Asian Sub 0 ATATATATATATAT=0 ATATATAT=0, ATATATATAT=0, ATATATATATAT=0, ATATATATATATATAT=0 0 0 0 N/A
Latin American 1 Sub 6 ATATATATATATAT=1.0 ATATATAT=0.0, ATATATATAT=0.0, ATATATATATAT=0.0, ATATATATATATATAT=0.0 1.0 0.0 0.0 N/A
Latin American 2 Sub 18 ATATATATATATAT=1.00 ATATATAT=0.00, ATATATATAT=0.00, ATATATATATAT=0.00, ATATATATATATATAT=0.00 1.0 0.0 0.0 N/A
South Asian Sub 2 ATATATATATATAT=1.0 ATATATAT=0.0, ATATATATAT=0.0, ATATATATATAT=0.0, ATATATATATATATAT=0.0 1.0 0.0 0.0 N/A
Other Sub 34 ATATATATATATAT=1.00 ATATATAT=0.00, ATATATATAT=0.00, ATATATATATAT=0.00, ATATATATATATATAT=0.00 1.0 0.0 0.0 N/A


Help

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
Allele Frequency Aggregator Total Global 4880 (AT)7=0.9982 del(AT)3=0.0000, delATAT=0.0000, delAT=0.0016, dupAT=0.0002
Allele Frequency Aggregator European Sub 4600 (AT)7=0.9980 del(AT)3=0.0000, delATAT=0.0000, delAT=0.0017, dupAT=0.0002
Allele Frequency Aggregator African Sub 216 (AT)7=1.000 del(AT)3=0.000, delATAT=0.000, delAT=0.000, dupAT=0.000
Allele Frequency Aggregator Other Sub 34 (AT)7=1.00 del(AT)3=0.00, delATAT=0.00, delAT=0.00, dupAT=0.00
Allele Frequency Aggregator Latin American 2 Sub 18 (AT)7=1.00 del(AT)3=0.00, delATAT=0.00, delAT=0.00, dupAT=0.00
Allele Frequency Aggregator Latin American 1 Sub 6 (AT)7=1.0 del(AT)3=0.0, delATAT=0.0, delAT=0.0, dupAT=0.0
Allele Frequency Aggregator Asian Sub 4 (AT)7=1.0 del(AT)3=0.0, delATAT=0.0, delAT=0.0, dupAT=0.0
Allele Frequency Aggregator South Asian Sub 2 (AT)7=1.0 del(AT)3=0.0, delATAT=0.0, delAT=0.0, dupAT=0.0
Help

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 19 NC_000019.10:g.54358398AT[4]
GRCh38.p14 chr 19 NC_000019.10:g.54358398AT[5]
GRCh38.p14 chr 19 NC_000019.10:g.54358398AT[6]
GRCh38.p14 chr 19 NC_000019.10:g.54358398AT[8]
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.332765AT[4]
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.332765AT[5]
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.332765AT[6]
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.332765AT[8]
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.340360AT[7]
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.340360AT[4]
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.340360AT[5]
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.340360AT[8]
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.339804AT[7]
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.339804AT[4]
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.339804AT[5]
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.339804AT[8]
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.341121AT[7]
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.341121AT[4]
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.341121AT[5]
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.341121AT[8]
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.263048AT[7]
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.263048AT[4]
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.263048AT[5]
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.263048AT[8]
GRCh37.p13 chr 19 NC_000019.9:g.54870007AT[7]
GRCh37.p13 chr 19 NC_000019.9:g.54870007AT[4]
GRCh37.p13 chr 19 NC_000019.9:g.54870007AT[5]
GRCh37.p13 chr 19 NC_000019.9:g.54870007AT[8]
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.340359AT[7]
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.340359AT[4]
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.340359AT[5]
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.340359AT[8]
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.339803AT[7]
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.339803AT[4]
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.339803AT[5]
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.339803AT[8]
Gene: LAIR1, leukocyte associated immunoglobulin like receptor 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LAIR1 transcript variant c NM_001289023.3:c.362-1445…

NM_001289023.3:c.362-1445AT[4]

N/A Intron Variant
LAIR1 transcript variant e NM_001289025.3:c.413-1445…

NM_001289025.3:c.413-1445AT[4]

N/A Intron Variant
LAIR1 transcript variant f NM_001289026.3:c.395-1445…

NM_001289026.3:c.395-1445AT[4]

N/A Intron Variant
LAIR1 transcript variant g NM_001289027.3:c.362-1445…

NM_001289027.3:c.362-1445AT[4]

N/A Intron Variant
LAIR1 transcript variant a NM_002287.6:c.416-1445AT[…

NM_002287.6:c.416-1445AT[4]

N/A Intron Variant
LAIR1 transcript variant b NM_021706.5:c.365-1445AT[…

NM_021706.5:c.365-1445AT[4]

N/A Intron Variant
LAIR1 transcript variant h NR_110279.3:n. N/A Intron Variant
LAIR1 transcript variant i NR_110280.3:n. N/A Intron Variant
LAIR1 transcript variant X1 XM_047438810.1:c.395-1445…

XM_047438810.1:c.395-1445AT[4]

N/A Intron Variant
LAIR1 transcript variant X2 XM_047438811.1:c.395-1445…

XM_047438811.1:c.395-1445AT[4]

N/A Intron Variant
LAIR1 transcript variant X3 XM_047438812.1:c.362-1445…

XM_047438812.1:c.362-1445AT[4]

N/A Intron Variant
LAIR1 transcript variant X4 XM_017026803.3:c.*60_*73= N/A 3 Prime UTR Variant
Help

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
Help

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)7= del(AT)3 delATAT delAT dupAT
GRCh38.p14 chr 19 NC_000019.10:g.54358398_54358411= NC_000019.10:g.54358398AT[4] NC_000019.10:g.54358398AT[5] NC_000019.10:g.54358398AT[6] NC_000019.10:g.54358398AT[8]
GRCh37.p13 chr 19 fix patch HG1079_PATCH NW_004166865.1:g.332765_332778= NW_004166865.1:g.332765AT[4] NW_004166865.1:g.332765AT[5] NW_004166865.1:g.332765AT[6] NW_004166865.1:g.332765AT[8]
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF2_CTG3_1 NW_003571061.2:g.340360AT[7] NW_003571061.2:g.340360AT[4] NW_003571061.2:g.340360AT[5] NW_003571061.2:g.340360_340371= NW_003571061.2:g.340360AT[8]
GRCh38.p14 chr 19 alt locus HSCHR19LRC_COX2_CTG3_1 NW_003571055.2:g.339804AT[7] NW_003571055.2:g.339804AT[4] NW_003571055.2:g.339804AT[5] NW_003571055.2:g.339804_339815= NW_003571055.2:g.339804AT[8]
GRCh38.p14 chr 19 alt locus HSCHR19_4_CTG3_1 NT_187693.1:g.341121AT[7] NT_187693.1:g.341121AT[4] NT_187693.1:g.341121AT[5] NT_187693.1:g.341121_341132= NT_187693.1:g.341121AT[8]
GRCh38.p14 chr 19 alt locus HSCHR19LRC_PGF1_CTG3_1 NW_003571060.1:g.263048AT[7] NW_003571060.1:g.263048AT[4] NW_003571060.1:g.263048AT[5] NW_003571060.1:g.263048_263059= NW_003571060.1:g.263048AT[8]
GRCh37.p13 chr 19 NC_000019.9:g.54870007AT[7] NC_000019.9:g.54870007AT[4] NC_000019.9:g.54870007AT[5] NC_000019.9:g.54870007_54870018= NC_000019.9:g.54870007AT[8]
LAIR1 transcript variant X4 XM_017026803.3:c.*60_*73= XM_017026803.3:c.*60AT[4] XM_017026803.3:c.*60AT[5] XM_017026803.3:c.*60AT[6] XM_017026803.3:c.*60AT[8]
GRCh37.p13 chr 19 novel patch HSCHR19LRC_PGF2_CTG1 NW_003571061.1:g.340359AT[7] NW_003571061.1:g.340359AT[4] NW_003571061.1:g.340359AT[5] NW_003571061.1:g.340359_340370= NW_003571061.1:g.340359AT[8]
GRCh37.p13 chr 19 novel patch HSCHR19LRC_COX2_CTG1 NW_003571055.1:g.339803AT[7] NW_003571055.1:g.339803AT[4] NW_003571055.1:g.339803AT[5] NW_003571055.1:g.339803_339814= NW_003571055.1:g.339803AT[8]
LILRB2 transcript variant 2 NM_001080978.4:c.23+3339AT[7] NM_001080978.4:c.23+3339AT[4] NM_001080978.4:c.23+3339AT[5] NM_001080978.4:c.23+3350= NM_001080978.4:c.23+3339AT[8]
LILRB1 transcript variant 2 NM_001081637.1:c.17-541AT[7] NM_001081637.1:c.17-541AT[4] NM_001081637.1:c.17-541AT[5] NM_001081637.1:c.17-541= NM_001081637.1:c.17-541AT[8]
LILRB1 transcript variant 3 NM_001081638.2:c.17-541AT[7] NM_001081638.2:c.17-541AT[4] NM_001081638.2:c.17-541AT[5] NM_001081638.2:c.17-541= NM_001081638.2:c.17-541AT[8]
LILRB1 transcript variant 4 NM_001081639.2:c.17-541AT[7] NM_001081639.2:c.17-541AT[4] NM_001081639.2:c.17-541AT[5] NM_001081639.2:c.17-541= NM_001081639.2:c.17-541AT[8]
LILRB1 transcript variant 5 NM_001278398.1:c.17-541AT[7] NM_001278398.1:c.17-541AT[4] NM_001278398.1:c.17-541AT[5] NM_001278398.1:c.17-541= NM_001278398.1:c.17-541AT[8]
LAIR1 transcript variant c NM_001289023.3:c.362-1432= NM_001289023.3:c.362-1445AT[4] NM_001289023.3:c.362-1445AT[5] NM_001289023.3:c.362-1445AT[6] NM_001289023.3:c.362-1445AT[8]
LAIR1 transcript variant e NM_001289025.3:c.413-1432= NM_001289025.3:c.413-1445AT[4] NM_001289025.3:c.413-1445AT[5] NM_001289025.3:c.413-1445AT[6] NM_001289025.3:c.413-1445AT[8]
LAIR1 transcript variant f NM_001289026.3:c.395-1432= NM_001289026.3:c.395-1445AT[4] NM_001289026.3:c.395-1445AT[5] NM_001289026.3:c.395-1445AT[6] NM_001289026.3:c.395-1445AT[8]
LAIR1 transcript variant g NM_001289027.3:c.362-1432= NM_001289027.3:c.362-1445AT[4] NM_001289027.3:c.362-1445AT[5] NM_001289027.3:c.362-1445AT[6] NM_001289027.3:c.362-1445AT[8]
LAIR1 transcript variant a NM_002287.3:c.416-1443AT[7] NM_002287.3:c.416-1443AT[4] NM_002287.3:c.416-1443AT[5] NM_002287.3:c.416-1432= NM_002287.3:c.416-1443AT[8]
LAIR1 transcript variant a NM_002287.6:c.416-1432= NM_002287.6:c.416-1445AT[4] NM_002287.6:c.416-1445AT[5] NM_002287.6:c.416-1445AT[6] NM_002287.6:c.416-1445AT[8]
LILRB2 transcript variant 1 NM_005874.5:c.23+3339AT[7] NM_005874.5:c.23+3339AT[4] NM_005874.5:c.23+3339AT[5] NM_005874.5:c.23+3350= NM_005874.5:c.23+3339AT[8]
LAIR1 transcript variant b NM_021706.2:c.365-1443AT[7] NM_021706.2:c.365-1443AT[4] NM_021706.2:c.365-1443AT[5] NM_021706.2:c.365-1432= NM_021706.2:c.365-1443AT[8]
LAIR1 transcript variant b NM_021706.5:c.365-1432= NM_021706.5:c.365-1445AT[4] NM_021706.5:c.365-1445AT[5] NM_021706.5:c.365-1445AT[6] NM_021706.5:c.365-1445AT[8]
LAIR1 transcript variant X1 XM_005258919.1:c.413-1443AT[7] XM_005258919.1:c.413-1443AT[4] XM_005258919.1:c.413-1443AT[5] XM_005258919.1:c.413-1432= XM_005258919.1:c.413-1443AT[8]
LAIR1 transcript variant X2 XM_005258920.1:c.398-1443AT[7] XM_005258920.1:c.398-1443AT[4] XM_005258920.1:c.398-1443AT[5] XM_005258920.1:c.398-1432= XM_005258920.1:c.398-1443AT[8]
LAIR1 transcript variant X3 XM_005258921.1:c.395-1443AT[7] XM_005258921.1:c.395-1443AT[4] XM_005258921.1:c.395-1443AT[5] XM_005258921.1:c.395-1432= XM_005258921.1:c.395-1443AT[8]
LAIR1 transcript variant X4 XM_005258922.1:c.362-1443AT[7] XM_005258922.1:c.362-1443AT[4] XM_005258922.1:c.362-1443AT[5] XM_005258922.1:c.362-1432= XM_005258922.1:c.362-1443AT[8]
LAIR1 transcript variant X5 XM_005258923.1:c.362-1443AT[7] XM_005258923.1:c.362-1443AT[4] XM_005258923.1:c.362-1443AT[5] XM_005258923.1:c.362-1432= XM_005258923.1:c.362-1443AT[8]
LAIR1 transcript variant X1 XM_005277109.1:c.416-1443AT[7] XM_005277109.1:c.416-1443AT[4] XM_005277109.1:c.416-1443AT[5] XM_005277109.1:c.416-1432= XM_005277109.1:c.416-1443AT[8]
LAIR1 transcript variant X2 XM_005277110.1:c.413-1443AT[7] XM_005277110.1:c.413-1443AT[4] XM_005277110.1:c.413-1443AT[5] XM_005277110.1:c.413-1432= XM_005277110.1:c.413-1443AT[8]
LAIR1 transcript variant X3 XM_005277111.1:c.398-1443AT[7] XM_005277111.1:c.398-1443AT[4] XM_005277111.1:c.398-1443AT[5] XM_005277111.1:c.398-1432= XM_005277111.1:c.398-1443AT[8]
LAIR1 transcript variant X4 XM_005277112.1:c.395-1443AT[7] XM_005277112.1:c.395-1443AT[4] XM_005277112.1:c.395-1443AT[5] XM_005277112.1:c.395-1432= XM_005277112.1:c.395-1443AT[8]
LAIR1 transcript variant X5 XM_005277113.1:c.362-1443AT[7] XM_005277113.1:c.362-1443AT[4] XM_005277113.1:c.362-1443AT[5] XM_005277113.1:c.362-1432= XM_005277113.1:c.362-1443AT[8]
LAIR1 transcript variant X6 XM_005277114.1:c.362-1443AT[7] XM_005277114.1:c.362-1443AT[4] XM_005277114.1:c.362-1443AT[5] XM_005277114.1:c.362-1432= XM_005277114.1:c.362-1443AT[8]
LAIR1 transcript variant X8 XM_005277305.1:c.413-1443AT[7] XM_005277305.1:c.413-1443AT[4] XM_005277305.1:c.413-1443AT[5] XM_005277305.1:c.413-1432= XM_005277305.1:c.413-1443AT[8]
LAIR1 transcript variant X9 XM_005277306.1:c.395-1443AT[7] XM_005277306.1:c.395-1443AT[4] XM_005277306.1:c.395-1443AT[5] XM_005277306.1:c.395-1432= XM_005277306.1:c.395-1443AT[8]
LAIR1 transcript variant X10 XM_005277307.1:c.362-1443AT[7] XM_005277307.1:c.362-1443AT[4] XM_005277307.1:c.362-1443AT[5] XM_005277307.1:c.362-1432= XM_005277307.1:c.362-1443AT[8]
LAIR1 transcript variant X11 XM_005277308.1:c.362-1443AT[7] XM_005277308.1:c.362-1443AT[4] XM_005277308.1:c.362-1443AT[5] XM_005277308.1:c.362-1432= XM_005277308.1:c.362-1443AT[8]
LAIR1 transcript variant X13 XM_005278273.1:c.416-1432= XM_005278273.1:c.416-1445AT[4] XM_005278273.1:c.416-1445AT[5] XM_005278273.1:c.416-1445AT[6] XM_005278273.1:c.416-1445AT[8]
LAIR1 transcript variant X14 XM_005278274.1:c.413-1432= XM_005278274.1:c.413-1445AT[4] XM_005278274.1:c.413-1445AT[5] XM_005278274.1:c.413-1445AT[6] XM_005278274.1:c.413-1445AT[8]
LAIR1 transcript variant X15 XM_005278275.1:c.362-1432= XM_005278275.1:c.362-1445AT[4] XM_005278275.1:c.362-1445AT[5] XM_005278275.1:c.362-1445AT[6] XM_005278275.1:c.362-1445AT[8]
LAIR1 transcript variant X16 XM_005278276.1:c.362-1432= XM_005278276.1:c.362-1445AT[4] XM_005278276.1:c.362-1445AT[5] XM_005278276.1:c.362-1445AT[6] XM_005278276.1:c.362-1445AT[8]
LAIR1 transcript variant X17 XM_005278277.1:c.395-1432= XM_005278277.1:c.395-1445AT[4] XM_005278277.1:c.395-1445AT[5] XM_005278277.1:c.395-1445AT[6] XM_005278277.1:c.395-1445AT[8]
LAIR1 transcript variant X1 XM_047438810.1:c.395-1432= XM_047438810.1:c.395-1445AT[4] XM_047438810.1:c.395-1445AT[5] XM_047438810.1:c.395-1445AT[6] XM_047438810.1:c.395-1445AT[8]
LAIR1 transcript variant X2 XM_047438811.1:c.395-1432= XM_047438811.1:c.395-1445AT[4] XM_047438811.1:c.395-1445AT[5] XM_047438811.1:c.395-1445AT[6] XM_047438811.1:c.395-1445AT[8]
LAIR1 transcript variant X3 XM_047438812.1:c.362-1432= XM_047438812.1:c.362-1445AT[4] XM_047438812.1:c.362-1445AT[5] XM_047438812.1:c.362-1445AT[6] XM_047438812.1:c.362-1445AT[8]
Help

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#.

24 SubSNP, 8 Frequency submissions
No Submitter Submission ID Date (Build)
1 SWEGEN ss3017678715 Jan 10, 2018 (151)
2 MCHAISSO ss3063921266 Nov 08, 2017 (151)
3 MCHAISSO ss3064770371 Nov 08, 2017 (151)
4 MCHAISSO ss3065720667 Nov 08, 2017 (151)
5 BIOINF_KMB_FNS_UNIBA ss3645527883 Oct 12, 2018 (152)
6 URBANLAB ss3650944015 Oct 12, 2018 (152)
7 EVA_DECODE ss3703006029 Jul 13, 2019 (153)
8 EVA_DECODE ss3703006030 Jul 13, 2019 (153)
9 EVA ss3846891919 Apr 27, 2020 (154)
10 GNOMAD ss4333208452 Apr 27, 2021 (155)
11 GNOMAD ss4333208453 Apr 27, 2021 (155)
12 GNOMAD ss4333208454 Apr 27, 2021 (155)
13 TOMMO_GENOMICS ss5228329199 Apr 27, 2021 (155)
14 TOMMO_GENOMICS ss5228329200 Apr 27, 2021 (155)
15 1000G_HIGH_COVERAGE ss5307683201 Oct 13, 2022 (156)
16 1000G_HIGH_COVERAGE ss5307683202 Oct 13, 2022 (156)
17 HUGCELL_USP ss5500133691 Oct 13, 2022 (156)
18 HUGCELL_USP ss5500133692 Oct 13, 2022 (156)
19 TOMMO_GENOMICS ss5787153053 Oct 13, 2022 (156)
20 TOMMO_GENOMICS ss5787153054 Oct 13, 2022 (156)
21 YY_MCH ss5817709761 Oct 13, 2022 (156)
22 EVA ss5848502752 Oct 13, 2022 (156)
23 EVA ss5852336232 Oct 13, 2022 (156)
24 EVA ss5928551806 Oct 13, 2022 (156)
25 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 543349246 (NC_000019.10:54358397:AT: 106626/130878)
Row 543349247 (NC_000019.10:54358397:ATAT: 3073/131020)
Row 543349248 (NC_000019.10:54358397:ATATAT: 1/131040)

- Apr 27, 2021 (155)
26 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 543349246 (NC_000019.10:54358397:AT: 106626/130878)
Row 543349247 (NC_000019.10:54358397:ATAT: 3073/131020)
Row 543349248 (NC_000019.10:54358397:ATATAT: 1/131040)

- Apr 27, 2021 (155)
27 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 543349246 (NC_000019.10:54358397:AT: 106626/130878)
Row 543349247 (NC_000019.10:54358397:ATAT: 3073/131020)
Row 543349248 (NC_000019.10:54358397:ATATAT: 1/131040)

- Apr 27, 2021 (155)
28 8.3KJPN

Submission ignored due to conflicting rows:
Row 86298506 (NC_000019.9:54870006::AT 752/16760)
Row 86298507 (NC_000019.9:54870006:AT: 3/16760)

- Apr 27, 2021 (155)
29 8.3KJPN

Submission ignored due to conflicting rows:
Row 86298506 (NC_000019.9:54870006::AT 752/16760)
Row 86298507 (NC_000019.9:54870006:AT: 3/16760)

- Apr 27, 2021 (155)
30 14KJPN

Submission ignored due to conflicting rows:
Row 120990157 (NC_000019.10:54358397:AT: 19259/28258)
Row 120990158 (NC_000019.10:54358397:ATAT: 6/28258)

- Oct 13, 2022 (156)
31 14KJPN

Submission ignored due to conflicting rows:
Row 120990157 (NC_000019.10:54358397:AT: 19259/28258)
Row 120990158 (NC_000019.10:54358397:ATAT: 6/28258)

- Oct 13, 2022 (156)
32 ALFA NC_000019.10 - 54358398 Apr 27, 2021 (155)
Help

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
ss4333208454 NC_000019.10:54358397:ATATAT: NC_000019.10:54358397:ATATATATATAT…

NC_000019.10:54358397:ATATATATATATAT:ATATATAT

(self)
7984111142 NC_000019.10:54358397:ATATATATATAT…

NC_000019.10:54358397:ATATATATATATAT:ATATATAT

NC_000019.10:54358397:ATATATATATAT…

NC_000019.10:54358397:ATATATATATATAT:ATATATAT

(self)
ss3703006030, ss4333208453, ss5307683202, ss5500133692, ss5787153054 NC_000019.10:54358397:ATAT: NC_000019.10:54358397:ATATATATATAT…

NC_000019.10:54358397:ATATATATATATAT:ATATATATAT

(self)
7984111142 NC_000019.10:54358397:ATATATATATAT…

NC_000019.10:54358397:ATATATATATATAT:ATATATATAT

NC_000019.10:54358397:ATATATATATAT…

NC_000019.10:54358397:ATATATATATATAT:ATATATATAT

(self)
ss3017678715, ss5228329200 NC_000019.9:54870006:AT: NC_000019.10:54358397:ATATATATATAT…

NC_000019.10:54358397:ATATATATATATAT:ATATATATATAT

(self)
ss5848502752 NC_000019.9:54870016:AT: NC_000019.10:54358397:ATATATATATAT…

NC_000019.10:54358397:ATATATATATATAT:ATATATATATAT

ss3063921266, ss3064770371, ss3065720667, ss3645527883, ss3650944015, ss3846891919, ss4333208452, ss5307683201, ss5500133691, ss5787153053, ss5817709761, ss5852336232, ss5928551806 NC_000019.10:54358397:AT: NC_000019.10:54358397:ATATATATATAT…

NC_000019.10:54358397:ATATATATATATAT:ATATATATATAT

(self)
7984111142 NC_000019.10:54358397:ATATATATATAT…

NC_000019.10:54358397:ATATATATATATAT:ATATATATATAT

NC_000019.10:54358397:ATATATATATAT…

NC_000019.10:54358397:ATATATATATATAT:ATATATATATAT

(self)
ss3703006029 NC_000019.10:54358399:AT: NC_000019.10:54358397:ATATATATATAT…

NC_000019.10:54358397:ATATATATATATAT:ATATATATATAT

(self)
ss5228329199 NC_000019.9:54870006::AT NC_000019.10:54358397:ATATATATATAT…

NC_000019.10:54358397:ATATATATATATAT:ATATATATATATATAT

(self)
7984111142 NC_000019.10:54358397:ATATATATATAT…

NC_000019.10:54358397:ATATATATATATAT:ATATATATATATATAT

NC_000019.10:54358397:ATATATATATAT…

NC_000019.10:54358397:ATATATATATATAT:ATATATATATATATAT

(self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs1167186423

Help

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.

Software version is: 2.0.1.post820+afb47a3d