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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.

rs367753826

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr16:70279671-70279687 (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(A)8 / del(A)7 / del(A)6 / del(…

del(A)8 / del(A)7 / del(A)6 / del(A)5 / del(A)4 / delAA / delA / dupA / dupAA / dupAAA / dup(A)4 / dup(A)5 / dup(A)7 / dup(A)8 / dup(A)9 / dup(A)10 / dup(A)11 / dup(A)12 / dup(A)13 / dup(A)14 / dup(A)15 / dup(A)16 / ins(A)18 / ins(A)20

Variation Type
Indel Insertion and Deletion
Frequency
dupAA=0.1724 (1690/9802, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
AARS1 : 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 9802 AAAAAAAAAAAAAAAAA=0.7903 AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0272, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.1724, AAAAAAAAAAAAAAAAAAAAAAAA=0.0058, AAAAAAAAAAAAAAAAAAAA=0.0020, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0021, AAAAAAAAAAAAAAAAAAAAA=0.0000 0.757375 0.092385 0.15024 32
European Sub 8328 AAAAAAAAAAAAAAAAA=0.7538 AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0321, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.2023, AAAAAAAAAAAAAAAAAAAAAAAA=0.0068, AAAAAAAAAAAAAAAAAAAA=0.0024, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0025, AAAAAAAAAAAAAAAAAAAAA=0.0000 0.709296 0.110836 0.179868 32
African Sub 896 AAAAAAAAAAAAAAAAA=1.000 AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Others Sub 42 AAAAAAAAAAAAAAAAA=1.00 AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African American Sub 854 AAAAAAAAAAAAAAAAA=1.000 AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Asian Sub 46 AAAAAAAAAAAAAAAAA=1.00 AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
East Asian Sub 34 AAAAAAAAAAAAAAAAA=1.00 AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 12 AAAAAAAAAAAAAAAAA=1.00 AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 50 AAAAAAAAAAAAAAAAA=1.00 AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 234 AAAAAAAAAAAAAAAAA=1.000 AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 54 AAAAAAAAAAAAAAAAA=1.00 AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 194 AAAAAAAAAAAAAAAAA=0.974 AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.026, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000 0.958763 0.010309 0.030928 8


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 9802 (A)17=0.7903 del(A)8=0.0000, del(A)7=0.0000, del(A)6=0.0000, del(A)5=0.0272, del(A)4=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.1724, dupAAA=0.0020, dup(A)4=0.0000, dup(A)7=0.0058, dup(A)12=0.0021
Allele Frequency Aggregator European Sub 8328 (A)17=0.7538 del(A)8=0.0000, del(A)7=0.0000, del(A)6=0.0000, del(A)5=0.0321, del(A)4=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.2023, dupAAA=0.0024, dup(A)4=0.0000, dup(A)7=0.0068, dup(A)12=0.0025
Allele Frequency Aggregator African Sub 896 (A)17=1.000 del(A)8=0.000, del(A)7=0.000, del(A)6=0.000, del(A)5=0.000, del(A)4=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)4=0.000, dup(A)7=0.000, dup(A)12=0.000
Allele Frequency Aggregator Latin American 2 Sub 234 (A)17=1.000 del(A)8=0.000, del(A)7=0.000, del(A)6=0.000, del(A)5=0.000, del(A)4=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)4=0.000, dup(A)7=0.000, dup(A)12=0.000
Allele Frequency Aggregator Other Sub 194 (A)17=0.974 del(A)8=0.000, del(A)7=0.000, del(A)6=0.000, del(A)5=0.000, del(A)4=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.026, dupAAA=0.000, dup(A)4=0.000, dup(A)7=0.000, dup(A)12=0.000
Allele Frequency Aggregator South Asian Sub 54 (A)17=1.00 del(A)8=0.00, del(A)7=0.00, del(A)6=0.00, del(A)5=0.00, del(A)4=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00, dup(A)7=0.00, dup(A)12=0.00
Allele Frequency Aggregator Latin American 1 Sub 50 (A)17=1.00 del(A)8=0.00, del(A)7=0.00, del(A)6=0.00, del(A)5=0.00, del(A)4=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00, dup(A)7=0.00, dup(A)12=0.00
Allele Frequency Aggregator Asian Sub 46 (A)17=1.00 del(A)8=0.00, del(A)7=0.00, del(A)6=0.00, del(A)5=0.00, del(A)4=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00, dup(A)7=0.00, dup(A)12=0.00
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 16 NC_000016.10:g.70279680_70279687del
GRCh38.p14 chr 16 NC_000016.10:g.70279681_70279687del
GRCh38.p14 chr 16 NC_000016.10:g.70279682_70279687del
GRCh38.p14 chr 16 NC_000016.10:g.70279683_70279687del
GRCh38.p14 chr 16 NC_000016.10:g.70279684_70279687del
GRCh38.p14 chr 16 NC_000016.10:g.70279686_70279687del
GRCh38.p14 chr 16 NC_000016.10:g.70279687del
GRCh38.p14 chr 16 NC_000016.10:g.70279687dup
GRCh38.p14 chr 16 NC_000016.10:g.70279686_70279687dup
GRCh38.p14 chr 16 NC_000016.10:g.70279685_70279687dup
GRCh38.p14 chr 16 NC_000016.10:g.70279684_70279687dup
GRCh38.p14 chr 16 NC_000016.10:g.70279683_70279687dup
GRCh38.p14 chr 16 NC_000016.10:g.70279681_70279687dup
GRCh38.p14 chr 16 NC_000016.10:g.70279680_70279687dup
GRCh38.p14 chr 16 NC_000016.10:g.70279679_70279687dup
GRCh38.p14 chr 16 NC_000016.10:g.70279678_70279687dup
GRCh38.p14 chr 16 NC_000016.10:g.70279677_70279687dup
GRCh38.p14 chr 16 NC_000016.10:g.70279676_70279687dup
GRCh38.p14 chr 16 NC_000016.10:g.70279675_70279687dup
GRCh38.p14 chr 16 NC_000016.10:g.70279674_70279687dup
GRCh38.p14 chr 16 NC_000016.10:g.70279673_70279687dup
GRCh38.p14 chr 16 NC_000016.10:g.70279672_70279687dup
GRCh38.p14 chr 16 NC_000016.10:g.70279687_70279688insAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 16 NC_000016.10:g.70279687_70279688insAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 16 NC_000016.9:g.70313583_70313590del
GRCh37.p13 chr 16 NC_000016.9:g.70313584_70313590del
GRCh37.p13 chr 16 NC_000016.9:g.70313585_70313590del
GRCh37.p13 chr 16 NC_000016.9:g.70313586_70313590del
GRCh37.p13 chr 16 NC_000016.9:g.70313587_70313590del
GRCh37.p13 chr 16 NC_000016.9:g.70313589_70313590del
GRCh37.p13 chr 16 NC_000016.9:g.70313590del
GRCh37.p13 chr 16 NC_000016.9:g.70313590dup
GRCh37.p13 chr 16 NC_000016.9:g.70313589_70313590dup
GRCh37.p13 chr 16 NC_000016.9:g.70313588_70313590dup
GRCh37.p13 chr 16 NC_000016.9:g.70313587_70313590dup
GRCh37.p13 chr 16 NC_000016.9:g.70313586_70313590dup
GRCh37.p13 chr 16 NC_000016.9:g.70313584_70313590dup
GRCh37.p13 chr 16 NC_000016.9:g.70313583_70313590dup
GRCh37.p13 chr 16 NC_000016.9:g.70313582_70313590dup
GRCh37.p13 chr 16 NC_000016.9:g.70313581_70313590dup
GRCh37.p13 chr 16 NC_000016.9:g.70313580_70313590dup
GRCh37.p13 chr 16 NC_000016.9:g.70313579_70313590dup
GRCh37.p13 chr 16 NC_000016.9:g.70313578_70313590dup
GRCh37.p13 chr 16 NC_000016.9:g.70313577_70313590dup
GRCh37.p13 chr 16 NC_000016.9:g.70313576_70313590dup
GRCh37.p13 chr 16 NC_000016.9:g.70313575_70313590dup
GRCh37.p13 chr 16 NC_000016.9:g.70313590_70313591insAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 16 NC_000016.9:g.70313590_70313591insAAAAAAAAAAAAAAAAAAAA
AARS1 RefSeqGene (LRG_359) NG_023191.1:g.14832_14839del
AARS1 RefSeqGene (LRG_359) NG_023191.1:g.14833_14839del
AARS1 RefSeqGene (LRG_359) NG_023191.1:g.14834_14839del
AARS1 RefSeqGene (LRG_359) NG_023191.1:g.14835_14839del
AARS1 RefSeqGene (LRG_359) NG_023191.1:g.14836_14839del
AARS1 RefSeqGene (LRG_359) NG_023191.1:g.14838_14839del
AARS1 RefSeqGene (LRG_359) NG_023191.1:g.14839del
AARS1 RefSeqGene (LRG_359) NG_023191.1:g.14839dup
AARS1 RefSeqGene (LRG_359) NG_023191.1:g.14838_14839dup
AARS1 RefSeqGene (LRG_359) NG_023191.1:g.14837_14839dup
AARS1 RefSeqGene (LRG_359) NG_023191.1:g.14836_14839dup
AARS1 RefSeqGene (LRG_359) NG_023191.1:g.14835_14839dup
AARS1 RefSeqGene (LRG_359) NG_023191.1:g.14833_14839dup
AARS1 RefSeqGene (LRG_359) NG_023191.1:g.14832_14839dup
AARS1 RefSeqGene (LRG_359) NG_023191.1:g.14831_14839dup
AARS1 RefSeqGene (LRG_359) NG_023191.1:g.14830_14839dup
AARS1 RefSeqGene (LRG_359) NG_023191.1:g.14829_14839dup
AARS1 RefSeqGene (LRG_359) NG_023191.1:g.14828_14839dup
AARS1 RefSeqGene (LRG_359) NG_023191.1:g.14827_14839dup
AARS1 RefSeqGene (LRG_359) NG_023191.1:g.14826_14839dup
AARS1 RefSeqGene (LRG_359) NG_023191.1:g.14825_14839dup
AARS1 RefSeqGene (LRG_359) NG_023191.1:g.14824_14839dup
AARS1 RefSeqGene (LRG_359) NG_023191.1:g.14839_14840insTTTTTTTTTTTTTTTTTT
AARS1 RefSeqGene (LRG_359) NG_023191.1:g.14839_14840insTTTTTTTTTTTTTTTTTTTT
Gene: AARS1, alanyl-tRNA synthetase 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
AARS1 transcript NM_001605.3:c.145-2524_14…

NM_001605.3:c.145-2524_145-2517del

N/A Intron Variant
AARS1 transcript variant X1 XM_047433666.1:c.145-2524…

XM_047433666.1:c.145-2524_145-2517del

N/A Intron 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 (A)17= del(A)8 del(A)7 del(A)6 del(A)5 del(A)4 delAA delA dupA dupAA dupAAA dup(A)4 dup(A)5 dup(A)7 dup(A)8 dup(A)9 dup(A)10 dup(A)11 dup(A)12 dup(A)13 dup(A)14 dup(A)15 dup(A)16 ins(A)18 ins(A)20
GRCh38.p14 chr 16 NC_000016.10:g.70279671_70279687= NC_000016.10:g.70279680_70279687del NC_000016.10:g.70279681_70279687del NC_000016.10:g.70279682_70279687del NC_000016.10:g.70279683_70279687del NC_000016.10:g.70279684_70279687del NC_000016.10:g.70279686_70279687del NC_000016.10:g.70279687del NC_000016.10:g.70279687dup NC_000016.10:g.70279686_70279687dup NC_000016.10:g.70279685_70279687dup NC_000016.10:g.70279684_70279687dup NC_000016.10:g.70279683_70279687dup NC_000016.10:g.70279681_70279687dup NC_000016.10:g.70279680_70279687dup NC_000016.10:g.70279679_70279687dup NC_000016.10:g.70279678_70279687dup NC_000016.10:g.70279677_70279687dup NC_000016.10:g.70279676_70279687dup NC_000016.10:g.70279675_70279687dup NC_000016.10:g.70279674_70279687dup NC_000016.10:g.70279673_70279687dup NC_000016.10:g.70279672_70279687dup NC_000016.10:g.70279687_70279688insAAAAAAAAAAAAAAAAAA NC_000016.10:g.70279687_70279688insAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 16 NC_000016.9:g.70313574_70313590= NC_000016.9:g.70313583_70313590del NC_000016.9:g.70313584_70313590del NC_000016.9:g.70313585_70313590del NC_000016.9:g.70313586_70313590del NC_000016.9:g.70313587_70313590del NC_000016.9:g.70313589_70313590del NC_000016.9:g.70313590del NC_000016.9:g.70313590dup NC_000016.9:g.70313589_70313590dup NC_000016.9:g.70313588_70313590dup NC_000016.9:g.70313587_70313590dup NC_000016.9:g.70313586_70313590dup NC_000016.9:g.70313584_70313590dup NC_000016.9:g.70313583_70313590dup NC_000016.9:g.70313582_70313590dup NC_000016.9:g.70313581_70313590dup NC_000016.9:g.70313580_70313590dup NC_000016.9:g.70313579_70313590dup NC_000016.9:g.70313578_70313590dup NC_000016.9:g.70313577_70313590dup NC_000016.9:g.70313576_70313590dup NC_000016.9:g.70313575_70313590dup NC_000016.9:g.70313590_70313591insAAAAAAAAAAAAAAAAAA NC_000016.9:g.70313590_70313591insAAAAAAAAAAAAAAAAAAAA
AARS1 RefSeqGene (LRG_359) NG_023191.1:g.14823_14839= NG_023191.1:g.14832_14839del NG_023191.1:g.14833_14839del NG_023191.1:g.14834_14839del NG_023191.1:g.14835_14839del NG_023191.1:g.14836_14839del NG_023191.1:g.14838_14839del NG_023191.1:g.14839del NG_023191.1:g.14839dup NG_023191.1:g.14838_14839dup NG_023191.1:g.14837_14839dup NG_023191.1:g.14836_14839dup NG_023191.1:g.14835_14839dup NG_023191.1:g.14833_14839dup NG_023191.1:g.14832_14839dup NG_023191.1:g.14831_14839dup NG_023191.1:g.14830_14839dup NG_023191.1:g.14829_14839dup NG_023191.1:g.14828_14839dup NG_023191.1:g.14827_14839dup NG_023191.1:g.14826_14839dup NG_023191.1:g.14825_14839dup NG_023191.1:g.14824_14839dup NG_023191.1:g.14839_14840insTTTTTTTTTTTTTTTTTT NG_023191.1:g.14839_14840insTTTTTTTTTTTTTTTTTTTT
AARS1 transcript NM_001605.2:c.145-2517= NM_001605.2:c.145-2524_145-2517del NM_001605.2:c.145-2523_145-2517del NM_001605.2:c.145-2522_145-2517del NM_001605.2:c.145-2521_145-2517del NM_001605.2:c.145-2520_145-2517del NM_001605.2:c.145-2518_145-2517del NM_001605.2:c.145-2517del NM_001605.2:c.145-2517dup NM_001605.2:c.145-2518_145-2517dup NM_001605.2:c.145-2519_145-2517dup NM_001605.2:c.145-2520_145-2517dup NM_001605.2:c.145-2521_145-2517dup NM_001605.2:c.145-2523_145-2517dup NM_001605.2:c.145-2524_145-2517dup NM_001605.2:c.145-2525_145-2517dup NM_001605.2:c.145-2526_145-2517dup NM_001605.2:c.145-2527_145-2517dup NM_001605.2:c.145-2528_145-2517dup NM_001605.2:c.145-2529_145-2517dup NM_001605.2:c.145-2530_145-2517dup NM_001605.2:c.145-2531_145-2517dup NM_001605.2:c.145-2532_145-2517dup NM_001605.2:c.145-2517_145-2516insTTTTTTTTTTTTTTTTTT NM_001605.2:c.145-2517_145-2516insTTTTTTTTTTTTTTTTTTTT
AARS1 transcript NM_001605.3:c.145-2517= NM_001605.3:c.145-2524_145-2517del NM_001605.3:c.145-2523_145-2517del NM_001605.3:c.145-2522_145-2517del NM_001605.3:c.145-2521_145-2517del NM_001605.3:c.145-2520_145-2517del NM_001605.3:c.145-2518_145-2517del NM_001605.3:c.145-2517del NM_001605.3:c.145-2517dup NM_001605.3:c.145-2518_145-2517dup NM_001605.3:c.145-2519_145-2517dup NM_001605.3:c.145-2520_145-2517dup NM_001605.3:c.145-2521_145-2517dup NM_001605.3:c.145-2523_145-2517dup NM_001605.3:c.145-2524_145-2517dup NM_001605.3:c.145-2525_145-2517dup NM_001605.3:c.145-2526_145-2517dup NM_001605.3:c.145-2527_145-2517dup NM_001605.3:c.145-2528_145-2517dup NM_001605.3:c.145-2529_145-2517dup NM_001605.3:c.145-2530_145-2517dup NM_001605.3:c.145-2531_145-2517dup NM_001605.3:c.145-2532_145-2517dup NM_001605.3:c.145-2517_145-2516insTTTTTTTTTTTTTTTTTT NM_001605.3:c.145-2517_145-2516insTTTTTTTTTTTTTTTTTTTT
AARS transcript variant X1 XM_005255813.1:c.145-2517= XM_005255813.1:c.145-2524_145-2517del XM_005255813.1:c.145-2523_145-2517del XM_005255813.1:c.145-2522_145-2517del XM_005255813.1:c.145-2521_145-2517del XM_005255813.1:c.145-2520_145-2517del XM_005255813.1:c.145-2518_145-2517del XM_005255813.1:c.145-2517del XM_005255813.1:c.145-2517dup XM_005255813.1:c.145-2518_145-2517dup XM_005255813.1:c.145-2519_145-2517dup XM_005255813.1:c.145-2520_145-2517dup XM_005255813.1:c.145-2521_145-2517dup XM_005255813.1:c.145-2523_145-2517dup XM_005255813.1:c.145-2524_145-2517dup XM_005255813.1:c.145-2525_145-2517dup XM_005255813.1:c.145-2526_145-2517dup XM_005255813.1:c.145-2527_145-2517dup XM_005255813.1:c.145-2528_145-2517dup XM_005255813.1:c.145-2529_145-2517dup XM_005255813.1:c.145-2530_145-2517dup XM_005255813.1:c.145-2531_145-2517dup XM_005255813.1:c.145-2532_145-2517dup XM_005255813.1:c.145-2517_145-2516insTTTTTTTTTTTTTTTTTT XM_005255813.1:c.145-2517_145-2516insTTTTTTTTTTTTTTTTTTTT
AARS1 transcript variant X1 XM_047433666.1:c.145-2517= XM_047433666.1:c.145-2524_145-2517del XM_047433666.1:c.145-2523_145-2517del XM_047433666.1:c.145-2522_145-2517del XM_047433666.1:c.145-2521_145-2517del XM_047433666.1:c.145-2520_145-2517del XM_047433666.1:c.145-2518_145-2517del XM_047433666.1:c.145-2517del XM_047433666.1:c.145-2517dup XM_047433666.1:c.145-2518_145-2517dup XM_047433666.1:c.145-2519_145-2517dup XM_047433666.1:c.145-2520_145-2517dup XM_047433666.1:c.145-2521_145-2517dup XM_047433666.1:c.145-2523_145-2517dup XM_047433666.1:c.145-2524_145-2517dup XM_047433666.1:c.145-2525_145-2517dup XM_047433666.1:c.145-2526_145-2517dup XM_047433666.1:c.145-2527_145-2517dup XM_047433666.1:c.145-2528_145-2517dup XM_047433666.1:c.145-2529_145-2517dup XM_047433666.1:c.145-2530_145-2517dup XM_047433666.1:c.145-2531_145-2517dup XM_047433666.1:c.145-2532_145-2517dup XM_047433666.1:c.145-2517_145-2516insTTTTTTTTTTTTTTTTTT XM_047433666.1:c.145-2517_145-2516insTTTTTTTTTTTTTTTTTTTT
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#.

61 SubSNP, 44 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGSV ss77956578 Apr 25, 2013 (138)
2 HUMANGENOME_JCVI ss96714996 Apr 25, 2013 (138)
3 SSIP ss947359369 Oct 12, 2018 (152)
4 SWEGEN ss3014724404 Nov 08, 2017 (151)
5 MCHAISSO ss3065627136 Nov 08, 2017 (151)
6 URBANLAB ss3650535481 Oct 12, 2018 (152)
7 ACPOP ss3741621060 Jul 13, 2019 (153)
8 ACPOP ss3741621061 Jul 13, 2019 (153)
9 ACPOP ss3741621062 Jul 13, 2019 (153)
10 ACPOP ss3741621063 Jul 13, 2019 (153)
11 EVA ss3834632590 Apr 27, 2020 (154)
12 KOGIC ss3977845008 Apr 27, 2020 (154)
13 KOGIC ss3977845009 Apr 27, 2020 (154)
14 KOGIC ss3977845010 Apr 27, 2020 (154)
15 KOGIC ss3977845011 Apr 27, 2020 (154)
16 GNOMAD ss4303292859 Apr 26, 2021 (155)
17 GNOMAD ss4303292860 Apr 26, 2021 (155)
18 GNOMAD ss4303292861 Apr 26, 2021 (155)
19 GNOMAD ss4303292862 Apr 26, 2021 (155)
20 GNOMAD ss4303292863 Apr 26, 2021 (155)
21 GNOMAD ss4303292864 Apr 26, 2021 (155)
22 GNOMAD ss4303292865 Apr 26, 2021 (155)
23 GNOMAD ss4303292866 Apr 26, 2021 (155)
24 GNOMAD ss4303292867 Apr 26, 2021 (155)
25 GNOMAD ss4303292868 Apr 26, 2021 (155)
26 GNOMAD ss4303292869 Apr 26, 2021 (155)
27 GNOMAD ss4303292870 Apr 26, 2021 (155)
28 GNOMAD ss4303292871 Apr 26, 2021 (155)
29 GNOMAD ss4303292872 Apr 26, 2021 (155)
30 GNOMAD ss4303292873 Apr 26, 2021 (155)
31 GNOMAD ss4303292874 Apr 26, 2021 (155)
32 GNOMAD ss4303292875 Apr 26, 2021 (155)
33 GNOMAD ss4303292876 Apr 26, 2021 (155)
34 GNOMAD ss4303292877 Apr 26, 2021 (155)
35 GNOMAD ss4303292878 Apr 26, 2021 (155)
36 GNOMAD ss4303292879 Apr 26, 2021 (155)
37 GNOMAD ss4303292880 Apr 26, 2021 (155)
38 TOPMED ss5019940454 Apr 26, 2021 (155)
39 TOPMED ss5019940455 Apr 26, 2021 (155)
40 TOMMO_GENOMICS ss5220174356 Apr 26, 2021 (155)
41 TOMMO_GENOMICS ss5220174357 Apr 26, 2021 (155)
42 TOMMO_GENOMICS ss5220174358 Apr 26, 2021 (155)
43 TOMMO_GENOMICS ss5220174359 Apr 26, 2021 (155)
44 TOMMO_GENOMICS ss5220174360 Apr 26, 2021 (155)
45 1000G_HIGH_COVERAGE ss5301411569 Oct 17, 2022 (156)
46 1000G_HIGH_COVERAGE ss5301411570 Oct 17, 2022 (156)
47 1000G_HIGH_COVERAGE ss5301411571 Oct 17, 2022 (156)
48 1000G_HIGH_COVERAGE ss5301411572 Oct 17, 2022 (156)
49 HUGCELL_USP ss5494715356 Oct 17, 2022 (156)
50 HUGCELL_USP ss5494715357 Oct 17, 2022 (156)
51 HUGCELL_USP ss5494715358 Oct 17, 2022 (156)
52 HUGCELL_USP ss5494715359 Oct 17, 2022 (156)
53 HUGCELL_USP ss5494715360 Oct 17, 2022 (156)
54 TOMMO_GENOMICS ss5775360313 Oct 17, 2022 (156)
55 TOMMO_GENOMICS ss5775360314 Oct 17, 2022 (156)
56 TOMMO_GENOMICS ss5775360316 Oct 17, 2022 (156)
57 TOMMO_GENOMICS ss5775360317 Oct 17, 2022 (156)
58 TOMMO_GENOMICS ss5775360318 Oct 17, 2022 (156)
59 EVA ss5846584891 Oct 17, 2022 (156)
60 EVA ss5846584892 Oct 17, 2022 (156)
61 EVA ss5846584893 Oct 17, 2022 (156)
62 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 493384778 (NC_000016.10:70279670::A 660/105682)
Row 493384779 (NC_000016.10:70279670::AA 45902/104990)
Row 493384780 (NC_000016.10:70279670::AAA 612/105646)...

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

Submission ignored due to conflicting rows:
Row 493384778 (NC_000016.10:70279670::A 660/105682)
Row 493384779 (NC_000016.10:70279670::AA 45902/104990)
Row 493384780 (NC_000016.10:70279670::AAA 612/105646)...

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

Submission ignored due to conflicting rows:
Row 493384778 (NC_000016.10:70279670::A 660/105682)
Row 493384779 (NC_000016.10:70279670::AA 45902/104990)
Row 493384780 (NC_000016.10:70279670::AAA 612/105646)...

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

Submission ignored due to conflicting rows:
Row 493384778 (NC_000016.10:70279670::A 660/105682)
Row 493384779 (NC_000016.10:70279670::AA 45902/104990)
Row 493384780 (NC_000016.10:70279670::AAA 612/105646)...

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

Submission ignored due to conflicting rows:
Row 493384778 (NC_000016.10:70279670::A 660/105682)
Row 493384779 (NC_000016.10:70279670::AA 45902/104990)
Row 493384780 (NC_000016.10:70279670::AAA 612/105646)...

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

Submission ignored due to conflicting rows:
Row 493384778 (NC_000016.10:70279670::A 660/105682)
Row 493384779 (NC_000016.10:70279670::AA 45902/104990)
Row 493384780 (NC_000016.10:70279670::AAA 612/105646)...

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

Submission ignored due to conflicting rows:
Row 493384778 (NC_000016.10:70279670::A 660/105682)
Row 493384779 (NC_000016.10:70279670::AA 45902/104990)
Row 493384780 (NC_000016.10:70279670::AAA 612/105646)...

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

Submission ignored due to conflicting rows:
Row 493384778 (NC_000016.10:70279670::A 660/105682)
Row 493384779 (NC_000016.10:70279670::AA 45902/104990)
Row 493384780 (NC_000016.10:70279670::AAA 612/105646)...

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

Submission ignored due to conflicting rows:
Row 493384778 (NC_000016.10:70279670::A 660/105682)
Row 493384779 (NC_000016.10:70279670::AA 45902/104990)
Row 493384780 (NC_000016.10:70279670::AAA 612/105646)...

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

Submission ignored due to conflicting rows:
Row 493384778 (NC_000016.10:70279670::A 660/105682)
Row 493384779 (NC_000016.10:70279670::AA 45902/104990)
Row 493384780 (NC_000016.10:70279670::AAA 612/105646)...

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

Submission ignored due to conflicting rows:
Row 493384778 (NC_000016.10:70279670::A 660/105682)
Row 493384779 (NC_000016.10:70279670::AA 45902/104990)
Row 493384780 (NC_000016.10:70279670::AAA 612/105646)...

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

Submission ignored due to conflicting rows:
Row 493384778 (NC_000016.10:70279670::A 660/105682)
Row 493384779 (NC_000016.10:70279670::AA 45902/104990)
Row 493384780 (NC_000016.10:70279670::AAA 612/105646)...

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

Submission ignored due to conflicting rows:
Row 493384778 (NC_000016.10:70279670::A 660/105682)
Row 493384779 (NC_000016.10:70279670::AA 45902/104990)
Row 493384780 (NC_000016.10:70279670::AAA 612/105646)...

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

Submission ignored due to conflicting rows:
Row 493384778 (NC_000016.10:70279670::A 660/105682)
Row 493384779 (NC_000016.10:70279670::AA 45902/104990)
Row 493384780 (NC_000016.10:70279670::AAA 612/105646)...

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

Submission ignored due to conflicting rows:
Row 493384778 (NC_000016.10:70279670::A 660/105682)
Row 493384779 (NC_000016.10:70279670::AA 45902/104990)
Row 493384780 (NC_000016.10:70279670::AAA 612/105646)...

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

Submission ignored due to conflicting rows:
Row 493384778 (NC_000016.10:70279670::A 660/105682)
Row 493384779 (NC_000016.10:70279670::AA 45902/104990)
Row 493384780 (NC_000016.10:70279670::AAA 612/105646)...

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

Submission ignored due to conflicting rows:
Row 493384778 (NC_000016.10:70279670::A 660/105682)
Row 493384779 (NC_000016.10:70279670::AA 45902/104990)
Row 493384780 (NC_000016.10:70279670::AAA 612/105646)...

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

Submission ignored due to conflicting rows:
Row 493384778 (NC_000016.10:70279670::A 660/105682)
Row 493384779 (NC_000016.10:70279670::AA 45902/104990)
Row 493384780 (NC_000016.10:70279670::AAA 612/105646)...

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

Submission ignored due to conflicting rows:
Row 493384778 (NC_000016.10:70279670::A 660/105682)
Row 493384779 (NC_000016.10:70279670::AA 45902/104990)
Row 493384780 (NC_000016.10:70279670::AAA 612/105646)...

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

Submission ignored due to conflicting rows:
Row 493384778 (NC_000016.10:70279670::A 660/105682)
Row 493384779 (NC_000016.10:70279670::AA 45902/104990)
Row 493384780 (NC_000016.10:70279670::AAA 612/105646)...

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

Submission ignored due to conflicting rows:
Row 493384778 (NC_000016.10:70279670::A 660/105682)
Row 493384779 (NC_000016.10:70279670::AA 45902/104990)
Row 493384780 (NC_000016.10:70279670::AAA 612/105646)...

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

Submission ignored due to conflicting rows:
Row 493384778 (NC_000016.10:70279670::A 660/105682)
Row 493384779 (NC_000016.10:70279670::AA 45902/104990)
Row 493384780 (NC_000016.10:70279670::AAA 612/105646)...

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

Submission ignored due to conflicting rows:
Row 493384778 (NC_000016.10:70279670::A 660/105682)
Row 493384779 (NC_000016.10:70279670::AA 45902/104990)
Row 493384780 (NC_000016.10:70279670::AAA 612/105646)...

- Apr 26, 2021 (155)
85 Korean Genome Project

Submission ignored due to conflicting rows:
Row 34223009 (NC_000016.10:70279671::AA 592/1820)
Row 34223010 (NC_000016.10:70279671::AAA 61/1820)
Row 34223011 (NC_000016.10:70279671::A 133/1820)...

- Apr 27, 2020 (154)
86 Korean Genome Project

Submission ignored due to conflicting rows:
Row 34223009 (NC_000016.10:70279671::AA 592/1820)
Row 34223010 (NC_000016.10:70279671::AAA 61/1820)
Row 34223011 (NC_000016.10:70279671::A 133/1820)...

- Apr 27, 2020 (154)
87 Korean Genome Project

Submission ignored due to conflicting rows:
Row 34223009 (NC_000016.10:70279671::AA 592/1820)
Row 34223010 (NC_000016.10:70279671::AAA 61/1820)
Row 34223011 (NC_000016.10:70279671::A 133/1820)...

- Apr 27, 2020 (154)
88 Korean Genome Project

Submission ignored due to conflicting rows:
Row 34223009 (NC_000016.10:70279671::AA 592/1820)
Row 34223010 (NC_000016.10:70279671::AAA 61/1820)
Row 34223011 (NC_000016.10:70279671::A 133/1820)...

- Apr 27, 2020 (154)
89 Northern Sweden

Submission ignored due to conflicting rows:
Row 14905925 (NC_000016.9:70313573::AA 177/590)
Row 14905926 (NC_000016.9:70313573::AAAAAAAAAAAA 11/590)
Row 14905927 (NC_000016.9:70313573:AAAAA: 35/590)...

- Jul 13, 2019 (153)
90 Northern Sweden

Submission ignored due to conflicting rows:
Row 14905925 (NC_000016.9:70313573::AA 177/590)
Row 14905926 (NC_000016.9:70313573::AAAAAAAAAAAA 11/590)
Row 14905927 (NC_000016.9:70313573:AAAAA: 35/590)...

- Jul 13, 2019 (153)
91 Northern Sweden

Submission ignored due to conflicting rows:
Row 14905925 (NC_000016.9:70313573::AA 177/590)
Row 14905926 (NC_000016.9:70313573::AAAAAAAAAAAA 11/590)
Row 14905927 (NC_000016.9:70313573:AAAAA: 35/590)...

- Jul 13, 2019 (153)
92 Northern Sweden

Submission ignored due to conflicting rows:
Row 14905925 (NC_000016.9:70313573::AA 177/590)
Row 14905926 (NC_000016.9:70313573::AAAAAAAAAAAA 11/590)
Row 14905927 (NC_000016.9:70313573:AAAAA: 35/590)...

- Jul 13, 2019 (153)
93 8.3KJPN

Submission ignored due to conflicting rows:
Row 78143663 (NC_000016.9:70313573::AA 6686/16512)
Row 78143664 (NC_000016.9:70313573::AAA 63/16512)
Row 78143665 (NC_000016.9:70313573::AAAAAAA 57/16512)...

- Apr 26, 2021 (155)
94 8.3KJPN

Submission ignored due to conflicting rows:
Row 78143663 (NC_000016.9:70313573::AA 6686/16512)
Row 78143664 (NC_000016.9:70313573::AAA 63/16512)
Row 78143665 (NC_000016.9:70313573::AAAAAAA 57/16512)...

- Apr 26, 2021 (155)
95 8.3KJPN

Submission ignored due to conflicting rows:
Row 78143663 (NC_000016.9:70313573::AA 6686/16512)
Row 78143664 (NC_000016.9:70313573::AAA 63/16512)
Row 78143665 (NC_000016.9:70313573::AAAAAAA 57/16512)...

- Apr 26, 2021 (155)
96 8.3KJPN

Submission ignored due to conflicting rows:
Row 78143663 (NC_000016.9:70313573::AA 6686/16512)
Row 78143664 (NC_000016.9:70313573::AAA 63/16512)
Row 78143665 (NC_000016.9:70313573::AAAAAAA 57/16512)...

- Apr 26, 2021 (155)
97 8.3KJPN

Submission ignored due to conflicting rows:
Row 78143663 (NC_000016.9:70313573::AA 6686/16512)
Row 78143664 (NC_000016.9:70313573::AAA 63/16512)
Row 78143665 (NC_000016.9:70313573::AAAAAAA 57/16512)...

- Apr 26, 2021 (155)
98 14KJPN

Submission ignored due to conflicting rows:
Row 109197417 (NC_000016.10:70279670::AA 11113/27950)
Row 109197418 (NC_000016.10:70279670::AAA 99/27950)
Row 109197420 (NC_000016.10:70279670::AAAAAAA 43/27950)...

- Oct 17, 2022 (156)
99 14KJPN

Submission ignored due to conflicting rows:
Row 109197417 (NC_000016.10:70279670::AA 11113/27950)
Row 109197418 (NC_000016.10:70279670::AAA 99/27950)
Row 109197420 (NC_000016.10:70279670::AAAAAAA 43/27950)...

- Oct 17, 2022 (156)
100 14KJPN

Submission ignored due to conflicting rows:
Row 109197417 (NC_000016.10:70279670::AA 11113/27950)
Row 109197418 (NC_000016.10:70279670::AAA 99/27950)
Row 109197420 (NC_000016.10:70279670::AAAAAAA 43/27950)...

- Oct 17, 2022 (156)
101 14KJPN

Submission ignored due to conflicting rows:
Row 109197417 (NC_000016.10:70279670::AA 11113/27950)
Row 109197418 (NC_000016.10:70279670::AAA 99/27950)
Row 109197420 (NC_000016.10:70279670::AAAAAAA 43/27950)...

- Oct 17, 2022 (156)
102 14KJPN

Submission ignored due to conflicting rows:
Row 109197417 (NC_000016.10:70279670::AA 11113/27950)
Row 109197418 (NC_000016.10:70279670::AAA 99/27950)
Row 109197420 (NC_000016.10:70279670::AAAAAAA 43/27950)...

- Oct 17, 2022 (156)
103 TopMed

Submission ignored due to conflicting rows:
Row 235486115 (NC_000016.10:70279670:AAAAAAA: 7/264690)
Row 235486116 (NC_000016.10:70279670:AAAAAAAA: 1/264690)

- Apr 26, 2021 (155)
104 TopMed

Submission ignored due to conflicting rows:
Row 235486115 (NC_000016.10:70279670:AAAAAAA: 7/264690)
Row 235486116 (NC_000016.10:70279670:AAAAAAAA: 1/264690)

- Apr 26, 2021 (155)
105 ALFA NC_000016.10 - 70279671 Apr 26, 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
ss5019940455 NC_000016.10:70279670:AAAAAAAA: NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAA

(self)
4325377815 NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAA

NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAA

(self)
ss4303292880, ss5019940454 NC_000016.10:70279670:AAAAAAA: NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAA

(self)
4325377815 NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAA

NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAA

(self)
ss4303292879 NC_000016.10:70279670:AAAAAA: NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
4325377815 NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA

NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
ss3014724404, ss3741621062, ss5846584892 NC_000016.9:70313573:AAAAA: NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss4303292878, ss5301411572, ss5494715359 NC_000016.10:70279670:AAAAA: NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
4325377815 NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss4303292877 NC_000016.10:70279670:AAAA: NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
4325377815 NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss4303292876 NC_000016.10:70279670:AA: NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
4325377815 NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3977845011, ss5301411571, ss5494715357 NC_000016.10:70279670:A: NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
4325377815 NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss5220174359 NC_000016.9:70313573::A NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss4303292859, ss5301411569, ss5494715356, ss5775360317 NC_000016.10:70279670::A NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
4325377815 NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3977845010 NC_000016.10:70279671::A NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3741621060, ss3834632590, ss5220174356, ss5846584891 NC_000016.9:70313573::AA NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss947359369 NC_000016.9:70313578::AA NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss3065627136, ss3650535481, ss4303292860, ss5301411570, ss5494715358, ss5775360313 NC_000016.10:70279670::AA NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
4325377815 NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss3977845008 NC_000016.10:70279671::AA NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss77956578, ss96714996 NT_010498.15:23927789::AA NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss5220174357, ss5846584893 NC_000016.9:70313573::AAA NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss4303292861, ss5494715360, ss5775360314 NC_000016.10:70279670::AAA NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
4325377815 NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss3977845009 NC_000016.10:70279671::AAA NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss4303292862 NC_000016.10:70279670::AAAA NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
4325377815 NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss4303292863 NC_000016.10:70279670::AAAAA NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss5220174358 NC_000016.9:70313573::AAAAAAA NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4303292864, ss5775360316 NC_000016.10:70279670::AAAAAAA NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
4325377815 NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4303292865 NC_000016.10:70279670::AAAAAAAA NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4303292866 NC_000016.10:70279670::AAAAAAAAA NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4303292867 NC_000016.10:70279670::AAAAAAAAAA NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4303292868 NC_000016.10:70279670::AAAAAAAAAAA NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3741621061, ss5220174360 NC_000016.9:70313573::AAAAAAAAAAAA NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4303292869, ss5775360318 NC_000016.10:70279670::AAAAAAAAAAAA NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
4325377815 NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4303292870 NC_000016.10:70279670::AAAAAAAAAAA…

NC_000016.10:70279670::AAAAAAAAAAAAA

NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3741621063 NC_000016.9:70313573::AAAAAAAAAAAA…

NC_000016.9:70313573::AAAAAAAAAAAAAA

NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4303292871 NC_000016.10:70279670::AAAAAAAAAAA…

NC_000016.10:70279670::AAAAAAAAAAAAAA

NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4303292872 NC_000016.10:70279670::AAAAAAAAAAA…

NC_000016.10:70279670::AAAAAAAAAAAAAAA

NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4303292873 NC_000016.10:70279670::AAAAAAAAAAA…

NC_000016.10:70279670::AAAAAAAAAAAAAAAA

NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4303292874 NC_000016.10:70279670::AAAAAAAAAAA…

NC_000016.10:70279670::AAAAAAAAAAAAAAAAAA

NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4303292875 NC_000016.10:70279670::AAAAAAAAAAA…

NC_000016.10:70279670::AAAAAAAAAAAAAAAAAAAA

NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss2377942300 NC_000016.9:70313573:AAAAAAA: NC_000016.10:70279670:AAAAAAAAAAAA…

NC_000016.10:70279670:AAAAAAAAAAAAAAAAA:AAAAAAAAAA

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 rs367753826

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