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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.

rs35065446

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr2:201729880-201729903 (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)15 / del(A)14 / del(A)13 / d…

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

Variation Type
Indel Insertion and Deletion
Frequency
del(A)15=0.000 (0/408, ALFA)
del(A)14=0.000 (0/408, ALFA)
del(A)13=0.000 (0/408, ALFA) (+ 12 more)
del(A)12=0.000 (0/408, ALFA)
del(A)11=0.000 (0/408, ALFA)
del(A)9=0.000 (0/408, ALFA)
del(A)8=0.000 (0/408, ALFA)
del(A)7=0.000 (0/408, ALFA)
del(A)6=0.000 (0/408, ALFA)
del(A)4=0.000 (0/408, ALFA)
delAAA=0.000 (0/408, ALFA)
delAA=0.000 (0/408, ALFA)
delA=0.000 (0/408, ALFA)
dupA=0.000 (0/408, ALFA)
dupAA=0.000 (0/408, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ALS2 : 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 408 AAAAAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
European Sub 106 AAAAAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Sub 270 AAAAAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Others Sub 14 AAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African American Sub 256 AAAAAAAAAAAAAAAAAAAAAAAA=1.000 AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
Asian Sub 0 AAAAAAAAAAAAAAAAAAAAAAAA=0 AAAAAAAAA=0, AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
East Asian Sub 0 AAAAAAAAAAAAAAAAAAAAAAAA=0 AAAAAAAAA=0, AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Other Asian Sub 0 AAAAAAAAAAAAAAAAAAAAAAAA=0 AAAAAAAAA=0, AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Latin American 1 Sub 4 AAAAAAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Latin American 2 Sub 2 AAAAAAAAAAAAAAAAAAAAAAAA=1.0 AAAAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
South Asian Sub 0 AAAAAAAAAAAAAAAAAAAAAAAA=0 AAAAAAAAA=0, AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Other Sub 26 AAAAAAAAAAAAAAAAAAAAAAAA=1.00 AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=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 408 (A)24=1.000 del(A)15=0.000, del(A)14=0.000, del(A)13=0.000, del(A)12=0.000, del(A)11=0.000, del(A)9=0.000, del(A)8=0.000, del(A)7=0.000, del(A)6=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator African Sub 270 (A)24=1.000 del(A)15=0.000, del(A)14=0.000, del(A)13=0.000, del(A)12=0.000, del(A)11=0.000, del(A)9=0.000, del(A)8=0.000, del(A)7=0.000, del(A)6=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator European Sub 106 (A)24=1.000 del(A)15=0.000, del(A)14=0.000, del(A)13=0.000, del(A)12=0.000, del(A)11=0.000, del(A)9=0.000, del(A)8=0.000, del(A)7=0.000, del(A)6=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000
Allele Frequency Aggregator Other Sub 26 (A)24=1.00 del(A)15=0.00, del(A)14=0.00, del(A)13=0.00, del(A)12=0.00, del(A)11=0.00, del(A)9=0.00, del(A)8=0.00, del(A)7=0.00, del(A)6=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator Latin American 1 Sub 4 (A)24=1.0 del(A)15=0.0, del(A)14=0.0, del(A)13=0.0, del(A)12=0.0, del(A)11=0.0, del(A)9=0.0, del(A)8=0.0, del(A)7=0.0, del(A)6=0.0, del(A)4=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0
Allele Frequency Aggregator Latin American 2 Sub 2 (A)24=1.0 del(A)15=0.0, del(A)14=0.0, del(A)13=0.0, del(A)12=0.0, del(A)11=0.0, del(A)9=0.0, del(A)8=0.0, del(A)7=0.0, del(A)6=0.0, del(A)4=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0
Allele Frequency Aggregator South Asian Sub 0 (A)24=0 del(A)15=0, del(A)14=0, del(A)13=0, del(A)12=0, del(A)11=0, del(A)9=0, del(A)8=0, del(A)7=0, del(A)6=0, del(A)4=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0
Allele Frequency Aggregator Asian Sub 0 (A)24=0 del(A)15=0, del(A)14=0, del(A)13=0, del(A)12=0, del(A)11=0, del(A)9=0, del(A)8=0, del(A)7=0, del(A)6=0, del(A)4=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=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 2 NC_000002.12:g.201729889_201729903del
GRCh38.p14 chr 2 NC_000002.12:g.201729890_201729903del
GRCh38.p14 chr 2 NC_000002.12:g.201729891_201729903del
GRCh38.p14 chr 2 NC_000002.12:g.201729892_201729903del
GRCh38.p14 chr 2 NC_000002.12:g.201729893_201729903del
GRCh38.p14 chr 2 NC_000002.12:g.201729894_201729903del
GRCh38.p14 chr 2 NC_000002.12:g.201729895_201729903del
GRCh38.p14 chr 2 NC_000002.12:g.201729896_201729903del
GRCh38.p14 chr 2 NC_000002.12:g.201729897_201729903del
GRCh38.p14 chr 2 NC_000002.12:g.201729898_201729903del
GRCh38.p14 chr 2 NC_000002.12:g.201729900_201729903del
GRCh38.p14 chr 2 NC_000002.12:g.201729901_201729903del
GRCh38.p14 chr 2 NC_000002.12:g.201729902_201729903del
GRCh38.p14 chr 2 NC_000002.12:g.201729903del
GRCh38.p14 chr 2 NC_000002.12:g.201729903dup
GRCh38.p14 chr 2 NC_000002.12:g.201729902_201729903dup
GRCh38.p14 chr 2 NC_000002.12:g.201729901_201729903dup
GRCh38.p14 chr 2 NC_000002.12:g.201729900_201729903dup
GRCh38.p14 chr 2 NC_000002.12:g.201729899_201729903dup
GRCh38.p14 chr 2 NC_000002.12:g.201729898_201729903dup
GRCh38.p14 chr 2 NC_000002.12:g.201729896_201729903dup
GRCh38.p14 chr 2 NC_000002.12:g.201729895_201729903dup
GRCh37.p13 chr 2 NC_000002.11:g.202594612_202594626del
GRCh37.p13 chr 2 NC_000002.11:g.202594613_202594626del
GRCh37.p13 chr 2 NC_000002.11:g.202594614_202594626del
GRCh37.p13 chr 2 NC_000002.11:g.202594615_202594626del
GRCh37.p13 chr 2 NC_000002.11:g.202594616_202594626del
GRCh37.p13 chr 2 NC_000002.11:g.202594617_202594626del
GRCh37.p13 chr 2 NC_000002.11:g.202594618_202594626del
GRCh37.p13 chr 2 NC_000002.11:g.202594619_202594626del
GRCh37.p13 chr 2 NC_000002.11:g.202594620_202594626del
GRCh37.p13 chr 2 NC_000002.11:g.202594621_202594626del
GRCh37.p13 chr 2 NC_000002.11:g.202594623_202594626del
GRCh37.p13 chr 2 NC_000002.11:g.202594624_202594626del
GRCh37.p13 chr 2 NC_000002.11:g.202594625_202594626del
GRCh37.p13 chr 2 NC_000002.11:g.202594626del
GRCh37.p13 chr 2 NC_000002.11:g.202594626dup
GRCh37.p13 chr 2 NC_000002.11:g.202594625_202594626dup
GRCh37.p13 chr 2 NC_000002.11:g.202594624_202594626dup
GRCh37.p13 chr 2 NC_000002.11:g.202594623_202594626dup
GRCh37.p13 chr 2 NC_000002.11:g.202594622_202594626dup
GRCh37.p13 chr 2 NC_000002.11:g.202594621_202594626dup
GRCh37.p13 chr 2 NC_000002.11:g.202594619_202594626dup
GRCh37.p13 chr 2 NC_000002.11:g.202594618_202594626dup
ALS2 RefSeqGene (LRG_654) NG_008775.1:g.56279_56293del
ALS2 RefSeqGene (LRG_654) NG_008775.1:g.56280_56293del
ALS2 RefSeqGene (LRG_654) NG_008775.1:g.56281_56293del
ALS2 RefSeqGene (LRG_654) NG_008775.1:g.56282_56293del
ALS2 RefSeqGene (LRG_654) NG_008775.1:g.56283_56293del
ALS2 RefSeqGene (LRG_654) NG_008775.1:g.56284_56293del
ALS2 RefSeqGene (LRG_654) NG_008775.1:g.56285_56293del
ALS2 RefSeqGene (LRG_654) NG_008775.1:g.56286_56293del
ALS2 RefSeqGene (LRG_654) NG_008775.1:g.56287_56293del
ALS2 RefSeqGene (LRG_654) NG_008775.1:g.56288_56293del
ALS2 RefSeqGene (LRG_654) NG_008775.1:g.56290_56293del
ALS2 RefSeqGene (LRG_654) NG_008775.1:g.56291_56293del
ALS2 RefSeqGene (LRG_654) NG_008775.1:g.56292_56293del
ALS2 RefSeqGene (LRG_654) NG_008775.1:g.56293del
ALS2 RefSeqGene (LRG_654) NG_008775.1:g.56293dup
ALS2 RefSeqGene (LRG_654) NG_008775.1:g.56292_56293dup
ALS2 RefSeqGene (LRG_654) NG_008775.1:g.56291_56293dup
ALS2 RefSeqGene (LRG_654) NG_008775.1:g.56290_56293dup
ALS2 RefSeqGene (LRG_654) NG_008775.1:g.56289_56293dup
ALS2 RefSeqGene (LRG_654) NG_008775.1:g.56288_56293dup
ALS2 RefSeqGene (LRG_654) NG_008775.1:g.56286_56293dup
ALS2 RefSeqGene (LRG_654) NG_008775.1:g.56285_56293dup
Gene: ALS2, alsin Rho guanine nucleotide exchange factor ALS2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ALS2 transcript variant 1 NM_020919.4:c.2581-711_25…

NM_020919.4:c.2581-711_2581-697del

N/A Intron Variant
ALS2 transcript variant 2 NM_001135745.2:c. N/A Genic Downstream Transcript Variant
ALS2 transcript variant X1 XM_006712654.4:c.2581-711…

XM_006712654.4:c.2581-711_2581-697del

N/A Intron Variant
ALS2 transcript variant X6 XM_006712655.4:c.517-711_…

XM_006712655.4:c.517-711_517-697del

N/A Intron Variant
ALS2 transcript variant X2 XM_017004569.3:c.2581-711…

XM_017004569.3:c.2581-711_2581-697del

N/A Intron Variant
ALS2 transcript variant X3 XM_017004570.3:c.2581-711…

XM_017004570.3:c.2581-711_2581-697del

N/A Intron Variant
ALS2 transcript variant X7 XM_017004572.3:c.199-711_…

XM_017004572.3:c.199-711_199-697del

N/A Intron Variant
ALS2 transcript variant X2 XM_047445224.1:c.2242-711…

XM_047445224.1:c.2242-711_2242-697del

N/A Intron Variant
ALS2 transcript variant X4 XM_047445238.1:c.2581-711…

XM_047445238.1:c.2581-711_2581-697del

N/A Intron Variant
ALS2 transcript variant X5 XM_047445241.1:c.2581-711…

XM_047445241.1:c.2581-711_2581-697del

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)24= del(A)15 del(A)14 del(A)13 del(A)12 del(A)11 del(A)10 del(A)9 del(A)8 del(A)7 del(A)6 del(A)4 delAAA delAA delA dupA dupAA dupAAA dup(A)4 dup(A)5 dup(A)6 dup(A)8 dup(A)9
GRCh38.p14 chr 2 NC_000002.12:g.201729880_201729903= NC_000002.12:g.201729889_201729903del NC_000002.12:g.201729890_201729903del NC_000002.12:g.201729891_201729903del NC_000002.12:g.201729892_201729903del NC_000002.12:g.201729893_201729903del NC_000002.12:g.201729894_201729903del NC_000002.12:g.201729895_201729903del NC_000002.12:g.201729896_201729903del NC_000002.12:g.201729897_201729903del NC_000002.12:g.201729898_201729903del NC_000002.12:g.201729900_201729903del NC_000002.12:g.201729901_201729903del NC_000002.12:g.201729902_201729903del NC_000002.12:g.201729903del NC_000002.12:g.201729903dup NC_000002.12:g.201729902_201729903dup NC_000002.12:g.201729901_201729903dup NC_000002.12:g.201729900_201729903dup NC_000002.12:g.201729899_201729903dup NC_000002.12:g.201729898_201729903dup NC_000002.12:g.201729896_201729903dup NC_000002.12:g.201729895_201729903dup
GRCh37.p13 chr 2 NC_000002.11:g.202594603_202594626= NC_000002.11:g.202594612_202594626del NC_000002.11:g.202594613_202594626del NC_000002.11:g.202594614_202594626del NC_000002.11:g.202594615_202594626del NC_000002.11:g.202594616_202594626del NC_000002.11:g.202594617_202594626del NC_000002.11:g.202594618_202594626del NC_000002.11:g.202594619_202594626del NC_000002.11:g.202594620_202594626del NC_000002.11:g.202594621_202594626del NC_000002.11:g.202594623_202594626del NC_000002.11:g.202594624_202594626del NC_000002.11:g.202594625_202594626del NC_000002.11:g.202594626del NC_000002.11:g.202594626dup NC_000002.11:g.202594625_202594626dup NC_000002.11:g.202594624_202594626dup NC_000002.11:g.202594623_202594626dup NC_000002.11:g.202594622_202594626dup NC_000002.11:g.202594621_202594626dup NC_000002.11:g.202594619_202594626dup NC_000002.11:g.202594618_202594626dup
ALS2 RefSeqGene (LRG_654) NG_008775.1:g.56270_56293= NG_008775.1:g.56279_56293del NG_008775.1:g.56280_56293del NG_008775.1:g.56281_56293del NG_008775.1:g.56282_56293del NG_008775.1:g.56283_56293del NG_008775.1:g.56284_56293del NG_008775.1:g.56285_56293del NG_008775.1:g.56286_56293del NG_008775.1:g.56287_56293del NG_008775.1:g.56288_56293del NG_008775.1:g.56290_56293del NG_008775.1:g.56291_56293del NG_008775.1:g.56292_56293del NG_008775.1:g.56293del NG_008775.1:g.56293dup NG_008775.1:g.56292_56293dup NG_008775.1:g.56291_56293dup NG_008775.1:g.56290_56293dup NG_008775.1:g.56289_56293dup NG_008775.1:g.56288_56293dup NG_008775.1:g.56286_56293dup NG_008775.1:g.56285_56293dup
ALS2 transcript variant 1 NM_020919.3:c.2581-697= NM_020919.3:c.2581-711_2581-697del NM_020919.3:c.2581-710_2581-697del NM_020919.3:c.2581-709_2581-697del NM_020919.3:c.2581-708_2581-697del NM_020919.3:c.2581-707_2581-697del NM_020919.3:c.2581-706_2581-697del NM_020919.3:c.2581-705_2581-697del NM_020919.3:c.2581-704_2581-697del NM_020919.3:c.2581-703_2581-697del NM_020919.3:c.2581-702_2581-697del NM_020919.3:c.2581-700_2581-697del NM_020919.3:c.2581-699_2581-697del NM_020919.3:c.2581-698_2581-697del NM_020919.3:c.2581-697del NM_020919.3:c.2581-697dup NM_020919.3:c.2581-698_2581-697dup NM_020919.3:c.2581-699_2581-697dup NM_020919.3:c.2581-700_2581-697dup NM_020919.3:c.2581-701_2581-697dup NM_020919.3:c.2581-702_2581-697dup NM_020919.3:c.2581-704_2581-697dup NM_020919.3:c.2581-705_2581-697dup
ALS2 transcript variant 1 NM_020919.4:c.2581-697= NM_020919.4:c.2581-711_2581-697del NM_020919.4:c.2581-710_2581-697del NM_020919.4:c.2581-709_2581-697del NM_020919.4:c.2581-708_2581-697del NM_020919.4:c.2581-707_2581-697del NM_020919.4:c.2581-706_2581-697del NM_020919.4:c.2581-705_2581-697del NM_020919.4:c.2581-704_2581-697del NM_020919.4:c.2581-703_2581-697del NM_020919.4:c.2581-702_2581-697del NM_020919.4:c.2581-700_2581-697del NM_020919.4:c.2581-699_2581-697del NM_020919.4:c.2581-698_2581-697del NM_020919.4:c.2581-697del NM_020919.4:c.2581-697dup NM_020919.4:c.2581-698_2581-697dup NM_020919.4:c.2581-699_2581-697dup NM_020919.4:c.2581-700_2581-697dup NM_020919.4:c.2581-701_2581-697dup NM_020919.4:c.2581-702_2581-697dup NM_020919.4:c.2581-704_2581-697dup NM_020919.4:c.2581-705_2581-697dup
ALS2 transcript variant X1 XM_005246709.1:c.2581-697= XM_005246709.1:c.2581-711_2581-697del XM_005246709.1:c.2581-710_2581-697del XM_005246709.1:c.2581-709_2581-697del XM_005246709.1:c.2581-708_2581-697del XM_005246709.1:c.2581-707_2581-697del XM_005246709.1:c.2581-706_2581-697del XM_005246709.1:c.2581-705_2581-697del XM_005246709.1:c.2581-704_2581-697del XM_005246709.1:c.2581-703_2581-697del XM_005246709.1:c.2581-702_2581-697del XM_005246709.1:c.2581-700_2581-697del XM_005246709.1:c.2581-699_2581-697del XM_005246709.1:c.2581-698_2581-697del XM_005246709.1:c.2581-697del XM_005246709.1:c.2581-697dup XM_005246709.1:c.2581-698_2581-697dup XM_005246709.1:c.2581-699_2581-697dup XM_005246709.1:c.2581-700_2581-697dup XM_005246709.1:c.2581-701_2581-697dup XM_005246709.1:c.2581-702_2581-697dup XM_005246709.1:c.2581-704_2581-697dup XM_005246709.1:c.2581-705_2581-697dup
ALS2 transcript variant X2 XM_005246710.1:c.2581-697= XM_005246710.1:c.2581-711_2581-697del XM_005246710.1:c.2581-710_2581-697del XM_005246710.1:c.2581-709_2581-697del XM_005246710.1:c.2581-708_2581-697del XM_005246710.1:c.2581-707_2581-697del XM_005246710.1:c.2581-706_2581-697del XM_005246710.1:c.2581-705_2581-697del XM_005246710.1:c.2581-704_2581-697del XM_005246710.1:c.2581-703_2581-697del XM_005246710.1:c.2581-702_2581-697del XM_005246710.1:c.2581-700_2581-697del XM_005246710.1:c.2581-699_2581-697del XM_005246710.1:c.2581-698_2581-697del XM_005246710.1:c.2581-697del XM_005246710.1:c.2581-697dup XM_005246710.1:c.2581-698_2581-697dup XM_005246710.1:c.2581-699_2581-697dup XM_005246710.1:c.2581-700_2581-697dup XM_005246710.1:c.2581-701_2581-697dup XM_005246710.1:c.2581-702_2581-697dup XM_005246710.1:c.2581-704_2581-697dup XM_005246710.1:c.2581-705_2581-697dup
ALS2 transcript variant X1 XM_006712654.4:c.2581-697= XM_006712654.4:c.2581-711_2581-697del XM_006712654.4:c.2581-710_2581-697del XM_006712654.4:c.2581-709_2581-697del XM_006712654.4:c.2581-708_2581-697del XM_006712654.4:c.2581-707_2581-697del XM_006712654.4:c.2581-706_2581-697del XM_006712654.4:c.2581-705_2581-697del XM_006712654.4:c.2581-704_2581-697del XM_006712654.4:c.2581-703_2581-697del XM_006712654.4:c.2581-702_2581-697del XM_006712654.4:c.2581-700_2581-697del XM_006712654.4:c.2581-699_2581-697del XM_006712654.4:c.2581-698_2581-697del XM_006712654.4:c.2581-697del XM_006712654.4:c.2581-697dup XM_006712654.4:c.2581-698_2581-697dup XM_006712654.4:c.2581-699_2581-697dup XM_006712654.4:c.2581-700_2581-697dup XM_006712654.4:c.2581-701_2581-697dup XM_006712654.4:c.2581-702_2581-697dup XM_006712654.4:c.2581-704_2581-697dup XM_006712654.4:c.2581-705_2581-697dup
ALS2 transcript variant X6 XM_006712655.4:c.517-697= XM_006712655.4:c.517-711_517-697del XM_006712655.4:c.517-710_517-697del XM_006712655.4:c.517-709_517-697del XM_006712655.4:c.517-708_517-697del XM_006712655.4:c.517-707_517-697del XM_006712655.4:c.517-706_517-697del XM_006712655.4:c.517-705_517-697del XM_006712655.4:c.517-704_517-697del XM_006712655.4:c.517-703_517-697del XM_006712655.4:c.517-702_517-697del XM_006712655.4:c.517-700_517-697del XM_006712655.4:c.517-699_517-697del XM_006712655.4:c.517-698_517-697del XM_006712655.4:c.517-697del XM_006712655.4:c.517-697dup XM_006712655.4:c.517-698_517-697dup XM_006712655.4:c.517-699_517-697dup XM_006712655.4:c.517-700_517-697dup XM_006712655.4:c.517-701_517-697dup XM_006712655.4:c.517-702_517-697dup XM_006712655.4:c.517-704_517-697dup XM_006712655.4:c.517-705_517-697dup
ALS2 transcript variant X2 XM_017004569.3:c.2581-697= XM_017004569.3:c.2581-711_2581-697del XM_017004569.3:c.2581-710_2581-697del XM_017004569.3:c.2581-709_2581-697del XM_017004569.3:c.2581-708_2581-697del XM_017004569.3:c.2581-707_2581-697del XM_017004569.3:c.2581-706_2581-697del XM_017004569.3:c.2581-705_2581-697del XM_017004569.3:c.2581-704_2581-697del XM_017004569.3:c.2581-703_2581-697del XM_017004569.3:c.2581-702_2581-697del XM_017004569.3:c.2581-700_2581-697del XM_017004569.3:c.2581-699_2581-697del XM_017004569.3:c.2581-698_2581-697del XM_017004569.3:c.2581-697del XM_017004569.3:c.2581-697dup XM_017004569.3:c.2581-698_2581-697dup XM_017004569.3:c.2581-699_2581-697dup XM_017004569.3:c.2581-700_2581-697dup XM_017004569.3:c.2581-701_2581-697dup XM_017004569.3:c.2581-702_2581-697dup XM_017004569.3:c.2581-704_2581-697dup XM_017004569.3:c.2581-705_2581-697dup
ALS2 transcript variant X3 XM_017004570.3:c.2581-697= XM_017004570.3:c.2581-711_2581-697del XM_017004570.3:c.2581-710_2581-697del XM_017004570.3:c.2581-709_2581-697del XM_017004570.3:c.2581-708_2581-697del XM_017004570.3:c.2581-707_2581-697del XM_017004570.3:c.2581-706_2581-697del XM_017004570.3:c.2581-705_2581-697del XM_017004570.3:c.2581-704_2581-697del XM_017004570.3:c.2581-703_2581-697del XM_017004570.3:c.2581-702_2581-697del XM_017004570.3:c.2581-700_2581-697del XM_017004570.3:c.2581-699_2581-697del XM_017004570.3:c.2581-698_2581-697del XM_017004570.3:c.2581-697del XM_017004570.3:c.2581-697dup XM_017004570.3:c.2581-698_2581-697dup XM_017004570.3:c.2581-699_2581-697dup XM_017004570.3:c.2581-700_2581-697dup XM_017004570.3:c.2581-701_2581-697dup XM_017004570.3:c.2581-702_2581-697dup XM_017004570.3:c.2581-704_2581-697dup XM_017004570.3:c.2581-705_2581-697dup
ALS2 transcript variant X7 XM_017004572.3:c.199-697= XM_017004572.3:c.199-711_199-697del XM_017004572.3:c.199-710_199-697del XM_017004572.3:c.199-709_199-697del XM_017004572.3:c.199-708_199-697del XM_017004572.3:c.199-707_199-697del XM_017004572.3:c.199-706_199-697del XM_017004572.3:c.199-705_199-697del XM_017004572.3:c.199-704_199-697del XM_017004572.3:c.199-703_199-697del XM_017004572.3:c.199-702_199-697del XM_017004572.3:c.199-700_199-697del XM_017004572.3:c.199-699_199-697del XM_017004572.3:c.199-698_199-697del XM_017004572.3:c.199-697del XM_017004572.3:c.199-697dup XM_017004572.3:c.199-698_199-697dup XM_017004572.3:c.199-699_199-697dup XM_017004572.3:c.199-700_199-697dup XM_017004572.3:c.199-701_199-697dup XM_017004572.3:c.199-702_199-697dup XM_017004572.3:c.199-704_199-697dup XM_017004572.3:c.199-705_199-697dup
ALS2 transcript variant X2 XM_047445224.1:c.2242-697= XM_047445224.1:c.2242-711_2242-697del XM_047445224.1:c.2242-710_2242-697del XM_047445224.1:c.2242-709_2242-697del XM_047445224.1:c.2242-708_2242-697del XM_047445224.1:c.2242-707_2242-697del XM_047445224.1:c.2242-706_2242-697del XM_047445224.1:c.2242-705_2242-697del XM_047445224.1:c.2242-704_2242-697del XM_047445224.1:c.2242-703_2242-697del XM_047445224.1:c.2242-702_2242-697del XM_047445224.1:c.2242-700_2242-697del XM_047445224.1:c.2242-699_2242-697del XM_047445224.1:c.2242-698_2242-697del XM_047445224.1:c.2242-697del XM_047445224.1:c.2242-697dup XM_047445224.1:c.2242-698_2242-697dup XM_047445224.1:c.2242-699_2242-697dup XM_047445224.1:c.2242-700_2242-697dup XM_047445224.1:c.2242-701_2242-697dup XM_047445224.1:c.2242-702_2242-697dup XM_047445224.1:c.2242-704_2242-697dup XM_047445224.1:c.2242-705_2242-697dup
ALS2 transcript variant X4 XM_047445238.1:c.2581-697= XM_047445238.1:c.2581-711_2581-697del XM_047445238.1:c.2581-710_2581-697del XM_047445238.1:c.2581-709_2581-697del XM_047445238.1:c.2581-708_2581-697del XM_047445238.1:c.2581-707_2581-697del XM_047445238.1:c.2581-706_2581-697del XM_047445238.1:c.2581-705_2581-697del XM_047445238.1:c.2581-704_2581-697del XM_047445238.1:c.2581-703_2581-697del XM_047445238.1:c.2581-702_2581-697del XM_047445238.1:c.2581-700_2581-697del XM_047445238.1:c.2581-699_2581-697del XM_047445238.1:c.2581-698_2581-697del XM_047445238.1:c.2581-697del XM_047445238.1:c.2581-697dup XM_047445238.1:c.2581-698_2581-697dup XM_047445238.1:c.2581-699_2581-697dup XM_047445238.1:c.2581-700_2581-697dup XM_047445238.1:c.2581-701_2581-697dup XM_047445238.1:c.2581-702_2581-697dup XM_047445238.1:c.2581-704_2581-697dup XM_047445238.1:c.2581-705_2581-697dup
ALS2 transcript variant X5 XM_047445241.1:c.2581-697= XM_047445241.1:c.2581-711_2581-697del XM_047445241.1:c.2581-710_2581-697del XM_047445241.1:c.2581-709_2581-697del XM_047445241.1:c.2581-708_2581-697del XM_047445241.1:c.2581-707_2581-697del XM_047445241.1:c.2581-706_2581-697del XM_047445241.1:c.2581-705_2581-697del XM_047445241.1:c.2581-704_2581-697del XM_047445241.1:c.2581-703_2581-697del XM_047445241.1:c.2581-702_2581-697del XM_047445241.1:c.2581-700_2581-697del XM_047445241.1:c.2581-699_2581-697del XM_047445241.1:c.2581-698_2581-697del XM_047445241.1:c.2581-697del XM_047445241.1:c.2581-697dup XM_047445241.1:c.2581-698_2581-697dup XM_047445241.1:c.2581-699_2581-697dup XM_047445241.1:c.2581-700_2581-697dup XM_047445241.1:c.2581-701_2581-697dup XM_047445241.1:c.2581-702_2581-697dup XM_047445241.1:c.2581-704_2581-697dup XM_047445241.1:c.2581-705_2581-697dup
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#.

52 SubSNP, 30 Frequency submissions
No Submitter Submission ID Date (Build)
1 ABI ss41599740 Mar 14, 2006 (126)
2 HGSV ss80803451 Dec 15, 2007 (130)
3 HGSV ss81102261 Dec 15, 2007 (130)
4 HGSV ss81162185 Dec 15, 2007 (130)
5 HGSV ss82262855 Aug 21, 2014 (142)
6 HUMANGENOME_JCVI ss95299264 Feb 04, 2009 (130)
7 PJP ss295022698 May 09, 2011 (144)
8 PJP ss295022699 May 09, 2011 (144)
9 SWEGEN ss2991190191 Nov 08, 2017 (151)
10 EVA_DECODE ss3705819199 Jul 13, 2019 (153)
11 EVA_DECODE ss3705819200 Jul 13, 2019 (153)
12 EVA_DECODE ss3705819201 Jul 13, 2019 (153)
13 PACBIO ss3789667093 Jul 13, 2019 (153)
14 PACBIO ss3794540258 Jul 13, 2019 (153)
15 EVA ss3827453097 Apr 25, 2020 (154)
16 GNOMAD ss4059246719 Apr 26, 2021 (155)
17 GNOMAD ss4059246720 Apr 26, 2021 (155)
18 GNOMAD ss4059246721 Apr 26, 2021 (155)
19 GNOMAD ss4059246722 Apr 26, 2021 (155)
20 GNOMAD ss4059246723 Apr 26, 2021 (155)
21 GNOMAD ss4059246724 Apr 26, 2021 (155)
22 GNOMAD ss4059246725 Apr 26, 2021 (155)
23 GNOMAD ss4059246726 Apr 26, 2021 (155)
24 GNOMAD ss4059246727 Apr 26, 2021 (155)
25 GNOMAD ss4059246728 Apr 26, 2021 (155)
26 GNOMAD ss4059246729 Apr 26, 2021 (155)
27 GNOMAD ss4059246730 Apr 26, 2021 (155)
28 GNOMAD ss4059246731 Apr 26, 2021 (155)
29 GNOMAD ss4059246732 Apr 26, 2021 (155)
30 GNOMAD ss4059246733 Apr 26, 2021 (155)
31 GNOMAD ss4059246734 Apr 26, 2021 (155)
32 GNOMAD ss4059246735 Apr 26, 2021 (155)
33 GNOMAD ss4059246736 Apr 26, 2021 (155)
34 GNOMAD ss4059246737 Apr 26, 2021 (155)
35 TOMMO_GENOMICS ss5156030340 Apr 26, 2021 (155)
36 TOMMO_GENOMICS ss5156030341 Apr 26, 2021 (155)
37 TOMMO_GENOMICS ss5156030342 Apr 26, 2021 (155)
38 TOMMO_GENOMICS ss5156030343 Apr 26, 2021 (155)
39 TOMMO_GENOMICS ss5156030344 Apr 26, 2021 (155)
40 1000G_HIGH_COVERAGE ss5251670753 Oct 12, 2022 (156)
41 1000G_HIGH_COVERAGE ss5251670754 Oct 12, 2022 (156)
42 1000G_HIGH_COVERAGE ss5251670755 Oct 12, 2022 (156)
43 1000G_HIGH_COVERAGE ss5251670756 Oct 12, 2022 (156)
44 HUGCELL_USP ss5451319609 Oct 12, 2022 (156)
45 HUGCELL_USP ss5451319610 Oct 12, 2022 (156)
46 HUGCELL_USP ss5451319611 Oct 12, 2022 (156)
47 TOMMO_GENOMICS ss5686776518 Oct 12, 2022 (156)
48 TOMMO_GENOMICS ss5686776519 Oct 12, 2022 (156)
49 TOMMO_GENOMICS ss5686776520 Oct 12, 2022 (156)
50 TOMMO_GENOMICS ss5686776521 Oct 12, 2022 (156)
51 TOMMO_GENOMICS ss5686776522 Oct 12, 2022 (156)
52 EVA ss5852912181 Oct 12, 2022 (156)
53 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 87873427 (NC_000002.12:201729879::A 610/70648)
Row 87873428 (NC_000002.12:201729879::AA 382/70566)
Row 87873429 (NC_000002.12:201729879::AAA 140/71032)...

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

Submission ignored due to conflicting rows:
Row 87873427 (NC_000002.12:201729879::A 610/70648)
Row 87873428 (NC_000002.12:201729879::AA 382/70566)
Row 87873429 (NC_000002.12:201729879::AAA 140/71032)...

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

Submission ignored due to conflicting rows:
Row 87873427 (NC_000002.12:201729879::A 610/70648)
Row 87873428 (NC_000002.12:201729879::AA 382/70566)
Row 87873429 (NC_000002.12:201729879::AAA 140/71032)...

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

Submission ignored due to conflicting rows:
Row 87873427 (NC_000002.12:201729879::A 610/70648)
Row 87873428 (NC_000002.12:201729879::AA 382/70566)
Row 87873429 (NC_000002.12:201729879::AAA 140/71032)...

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

Submission ignored due to conflicting rows:
Row 87873427 (NC_000002.12:201729879::A 610/70648)
Row 87873428 (NC_000002.12:201729879::AA 382/70566)
Row 87873429 (NC_000002.12:201729879::AAA 140/71032)...

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

Submission ignored due to conflicting rows:
Row 87873427 (NC_000002.12:201729879::A 610/70648)
Row 87873428 (NC_000002.12:201729879::AA 382/70566)
Row 87873429 (NC_000002.12:201729879::AAA 140/71032)...

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

Submission ignored due to conflicting rows:
Row 87873427 (NC_000002.12:201729879::A 610/70648)
Row 87873428 (NC_000002.12:201729879::AA 382/70566)
Row 87873429 (NC_000002.12:201729879::AAA 140/71032)...

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

Submission ignored due to conflicting rows:
Row 87873427 (NC_000002.12:201729879::A 610/70648)
Row 87873428 (NC_000002.12:201729879::AA 382/70566)
Row 87873429 (NC_000002.12:201729879::AAA 140/71032)...

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

Submission ignored due to conflicting rows:
Row 87873427 (NC_000002.12:201729879::A 610/70648)
Row 87873428 (NC_000002.12:201729879::AA 382/70566)
Row 87873429 (NC_000002.12:201729879::AAA 140/71032)...

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

Submission ignored due to conflicting rows:
Row 87873427 (NC_000002.12:201729879::A 610/70648)
Row 87873428 (NC_000002.12:201729879::AA 382/70566)
Row 87873429 (NC_000002.12:201729879::AAA 140/71032)...

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

Submission ignored due to conflicting rows:
Row 87873427 (NC_000002.12:201729879::A 610/70648)
Row 87873428 (NC_000002.12:201729879::AA 382/70566)
Row 87873429 (NC_000002.12:201729879::AAA 140/71032)...

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

Submission ignored due to conflicting rows:
Row 87873427 (NC_000002.12:201729879::A 610/70648)
Row 87873428 (NC_000002.12:201729879::AA 382/70566)
Row 87873429 (NC_000002.12:201729879::AAA 140/71032)...

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

Submission ignored due to conflicting rows:
Row 87873427 (NC_000002.12:201729879::A 610/70648)
Row 87873428 (NC_000002.12:201729879::AA 382/70566)
Row 87873429 (NC_000002.12:201729879::AAA 140/71032)...

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

Submission ignored due to conflicting rows:
Row 87873427 (NC_000002.12:201729879::A 610/70648)
Row 87873428 (NC_000002.12:201729879::AA 382/70566)
Row 87873429 (NC_000002.12:201729879::AAA 140/71032)...

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

Submission ignored due to conflicting rows:
Row 87873427 (NC_000002.12:201729879::A 610/70648)
Row 87873428 (NC_000002.12:201729879::AA 382/70566)
Row 87873429 (NC_000002.12:201729879::AAA 140/71032)...

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

Submission ignored due to conflicting rows:
Row 87873427 (NC_000002.12:201729879::A 610/70648)
Row 87873428 (NC_000002.12:201729879::AA 382/70566)
Row 87873429 (NC_000002.12:201729879::AAA 140/71032)...

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

Submission ignored due to conflicting rows:
Row 87873427 (NC_000002.12:201729879::A 610/70648)
Row 87873428 (NC_000002.12:201729879::AA 382/70566)
Row 87873429 (NC_000002.12:201729879::AAA 140/71032)...

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

Submission ignored due to conflicting rows:
Row 87873427 (NC_000002.12:201729879::A 610/70648)
Row 87873428 (NC_000002.12:201729879::AA 382/70566)
Row 87873429 (NC_000002.12:201729879::AAA 140/71032)...

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

Submission ignored due to conflicting rows:
Row 87873427 (NC_000002.12:201729879::A 610/70648)
Row 87873428 (NC_000002.12:201729879::AA 382/70566)
Row 87873429 (NC_000002.12:201729879::AAA 140/71032)...

- Apr 26, 2021 (155)
72 8.3KJPN

Submission ignored due to conflicting rows:
Row 13999647 (NC_000002.11:202594602::A 277/16148)
Row 13999648 (NC_000002.11:202594602:AA: 2132/16148)
Row 13999649 (NC_000002.11:202594602:A: 6239/16148)...

- Apr 26, 2021 (155)
73 8.3KJPN

Submission ignored due to conflicting rows:
Row 13999647 (NC_000002.11:202594602::A 277/16148)
Row 13999648 (NC_000002.11:202594602:AA: 2132/16148)
Row 13999649 (NC_000002.11:202594602:A: 6239/16148)...

- Apr 26, 2021 (155)
74 8.3KJPN

Submission ignored due to conflicting rows:
Row 13999647 (NC_000002.11:202594602::A 277/16148)
Row 13999648 (NC_000002.11:202594602:AA: 2132/16148)
Row 13999649 (NC_000002.11:202594602:A: 6239/16148)...

- Apr 26, 2021 (155)
75 8.3KJPN

Submission ignored due to conflicting rows:
Row 13999647 (NC_000002.11:202594602::A 277/16148)
Row 13999648 (NC_000002.11:202594602:AA: 2132/16148)
Row 13999649 (NC_000002.11:202594602:A: 6239/16148)...

- Apr 26, 2021 (155)
76 8.3KJPN

Submission ignored due to conflicting rows:
Row 13999647 (NC_000002.11:202594602::A 277/16148)
Row 13999648 (NC_000002.11:202594602:AA: 2132/16148)
Row 13999649 (NC_000002.11:202594602:A: 6239/16148)...

- Apr 26, 2021 (155)
77 14KJPN

Submission ignored due to conflicting rows:
Row 20613622 (NC_000002.12:201729879:A: 14188/27742)
Row 20613623 (NC_000002.12:201729879:AA: 5281/27742)
Row 20613624 (NC_000002.12:201729879::AA 157/27742)...

- Oct 12, 2022 (156)
78 14KJPN

Submission ignored due to conflicting rows:
Row 20613622 (NC_000002.12:201729879:A: 14188/27742)
Row 20613623 (NC_000002.12:201729879:AA: 5281/27742)
Row 20613624 (NC_000002.12:201729879::AA 157/27742)...

- Oct 12, 2022 (156)
79 14KJPN

Submission ignored due to conflicting rows:
Row 20613622 (NC_000002.12:201729879:A: 14188/27742)
Row 20613623 (NC_000002.12:201729879:AA: 5281/27742)
Row 20613624 (NC_000002.12:201729879::AA 157/27742)...

- Oct 12, 2022 (156)
80 14KJPN

Submission ignored due to conflicting rows:
Row 20613622 (NC_000002.12:201729879:A: 14188/27742)
Row 20613623 (NC_000002.12:201729879:AA: 5281/27742)
Row 20613624 (NC_000002.12:201729879::AA 157/27742)...

- Oct 12, 2022 (156)
81 14KJPN

Submission ignored due to conflicting rows:
Row 20613622 (NC_000002.12:201729879:A: 14188/27742)
Row 20613623 (NC_000002.12:201729879:AA: 5281/27742)
Row 20613624 (NC_000002.12:201729879::AA 157/27742)...

- Oct 12, 2022 (156)
82 ALFA NC_000002.12 - 201729880 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).

Associated ID History Updated (Build)
rs58257169 May 24, 2008 (130)
rs59618214 Oct 26, 2010 (133)
rs140480900 Jul 01, 2015 (144)
rs150015429 May 11, 2012 (137)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4059246737 NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAA:

NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA

(self)
8640254590 NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA

NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA

(self)
ss5156030343 NC_000002.11:202594602:AAAAAAAAAAA…

NC_000002.11:202594602:AAAAAAAAAAAAAA:

NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

(self)
ss4059246736, ss5686776522 NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAA:

NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

(self)
8640254590 NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA

(self)
ss2991190191 NC_000002.11:202594602:AAAAAAAAAAA…

NC_000002.11:202594602:AAAAAAAAAAAAA:

NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
ss4059246735 NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAA:

NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
8640254590 NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
ss4059246734 NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAA:

NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
8640254590 NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss4059246733 NC_000002.12:201729879:AAAAAAAAAAA: NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
8640254590 NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss4059246732 NC_000002.12:201729879:AAAAAAAAAA: NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss4059246731 NC_000002.12:201729879:AAAAAAAAA: NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
8640254590 NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss5156030344 NC_000002.11:202594602:AAAAAAAA: NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss4059246730 NC_000002.12:201729879:AAAAAAAA: NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
8640254590 NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss4059246729 NC_000002.12:201729879:AAAAAAA: NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
8640254590 NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss4059246728 NC_000002.12:201729879:AAAAAA: NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
8640254590 NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss4059246727, ss5251670756 NC_000002.12:201729879:AAAA: NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
8640254590 NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss3705819201, ss5251670755 NC_000002.12:201729879:AAA: NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
8640254590 NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss82262855 NC_000002.9:202420130:AA: NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss5156030341 NC_000002.11:202594602:AA: NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss5251670754, ss5451319609, ss5686776519 NC_000002.12:201729879:AA: NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
8640254590 NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss3705819200 NC_000002.12:201729880:AA: NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA

(self)
ss80803451, ss81102261, ss81162185 NC_000002.9:202420131:A: NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss295022698 NC_000002.10:202302847:A: NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss295022699 NC_000002.10:202302870:A: NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3789667093, ss3794540258, ss3827453097, ss5156030342 NC_000002.11:202594602:A: NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss5451319610, ss5686776518, ss5852912181 NC_000002.12:201729879:A: NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
8640254590 NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss3705819199 NC_000002.12:201729881:A: NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss41599740, ss95299264 NT_005403.17:52804043:A: NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(self)
ss5156030340 NC_000002.11:202594602::A NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4059246719, ss5451319611, ss5686776521 NC_000002.12:201729879::A NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
8640254590 NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4059246720, ss5251670753, ss5686776520 NC_000002.12:201729879::AA NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
8640254590 NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4059246721 NC_000002.12:201729879::AAA NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4059246722 NC_000002.12:201729879::AAAA NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4059246723 NC_000002.12:201729879::AAAAA NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4059246724 NC_000002.12:201729879::AAAAAA NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4059246725 NC_000002.12:201729879::AAAAAAAA NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4059246726 NC_000002.12:201729879::AAAAAAAAA NC_000002.12:201729879:AAAAAAAAAAA…

NC_000002.12:201729879:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

(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 rs35065446

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