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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.

rs11339532

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:213010572-213010588 (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)5 / del(A)4 / delAAA / delAA…

del(A)5 / del(A)4 / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)4 / dup(A)8 / dup(A)10

Variation Type
Indel Insertion and Deletion
Frequency
del(A)5=0.0000 (0/3252, ALFA)
del(A)4=0.0000 (0/3252, ALFA)
delAA=0.0000 (0/3252, ALFA) (+ 6 more)
delA=0.0000 (0/3252, ALFA)
dupA=0.0000 (0/3252, ALFA)
dupAA=0.0000 (0/3252, ALFA)
dupAAA=0.0000 (0/3252, ALFA)
dup(A)4=0.0000 (0/3252, ALFA)
delA=0.40 (16/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ANGEL2 : 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 3252 AAAAAAAAAAAAAAAAA=1.0000 AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
European Sub 904 AAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
African Sub 1970 AAAAAAAAAAAAAAAAA=1.0000 AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Others Sub 98 AAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African American Sub 1872 AAAAAAAAAAAAAAAAA=1.0000 AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
Asian Sub 18 AAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
East Asian Sub 16 AAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 2 AAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Latin American 1 Sub 40 AAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 168 AAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 10 AAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Other Sub 142 AAAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000 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 3252 (A)17=1.0000 del(A)5=0.0000, del(A)4=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)4=0.0000
Allele Frequency Aggregator African Sub 1970 (A)17=1.0000 del(A)5=0.0000, del(A)4=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)4=0.0000
Allele Frequency Aggregator European Sub 904 (A)17=1.000 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
Allele Frequency Aggregator Latin American 2 Sub 168 (A)17=1.000 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
Allele Frequency Aggregator Other Sub 142 (A)17=1.000 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
Allele Frequency Aggregator Latin American 1 Sub 40 (A)17=1.00 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
Allele Frequency Aggregator Asian Sub 18 (A)17=1.00 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
Allele Frequency Aggregator South Asian Sub 10 (A)17=1.0 del(A)5=0.0, del(A)4=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)4=0.0
The Danish reference pan genome Danish Study-wide 40 (A)17=0.60 delA=0.40
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 1 NC_000001.11:g.213010584_213010588del
GRCh38.p14 chr 1 NC_000001.11:g.213010585_213010588del
GRCh38.p14 chr 1 NC_000001.11:g.213010586_213010588del
GRCh38.p14 chr 1 NC_000001.11:g.213010587_213010588del
GRCh38.p14 chr 1 NC_000001.11:g.213010588del
GRCh38.p14 chr 1 NC_000001.11:g.213010588dup
GRCh38.p14 chr 1 NC_000001.11:g.213010587_213010588dup
GRCh38.p14 chr 1 NC_000001.11:g.213010586_213010588dup
GRCh38.p14 chr 1 NC_000001.11:g.213010585_213010588dup
GRCh38.p14 chr 1 NC_000001.11:g.213010581_213010588dup
GRCh38.p14 chr 1 NC_000001.11:g.213010579_213010588dup
GRCh37.p13 chr 1 NC_000001.10:g.213183926_213183930del
GRCh37.p13 chr 1 NC_000001.10:g.213183927_213183930del
GRCh37.p13 chr 1 NC_000001.10:g.213183928_213183930del
GRCh37.p13 chr 1 NC_000001.10:g.213183929_213183930del
GRCh37.p13 chr 1 NC_000001.10:g.213183930del
GRCh37.p13 chr 1 NC_000001.10:g.213183930dup
GRCh37.p13 chr 1 NC_000001.10:g.213183929_213183930dup
GRCh37.p13 chr 1 NC_000001.10:g.213183928_213183930dup
GRCh37.p13 chr 1 NC_000001.10:g.213183927_213183930dup
GRCh37.p13 chr 1 NC_000001.10:g.213183923_213183930dup
GRCh37.p13 chr 1 NC_000001.10:g.213183921_213183930dup
Gene: ANGEL2, angel homolog 2 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ANGEL2 transcript variant 2 NM_001300753.2:c.7+632_7+…

NM_001300753.2:c.7+632_7+636del

N/A Intron Variant
ANGEL2 transcript variant 3 NM_001300755.2:c.7+632_7+…

NM_001300755.2:c.7+632_7+636del

N/A Intron Variant
ANGEL2 transcript variant 4 NM_001300757.2:c.-122-211…

NM_001300757.2:c.-122-2110_-122-2106del

N/A Intron Variant
ANGEL2 transcript variant 5 NM_001300758.2:c.-122-211…

NM_001300758.2:c.-122-2110_-122-2106del

N/A Intron Variant
ANGEL2 transcript variant 1 NM_144567.5:c.386-2110_38…

NM_144567.5:c.386-2110_386-2106del

N/A Intron Variant
ANGEL2 transcript variant 6 NR_125333.2:n. N/A Intron Variant
ANGEL2 transcript variant X7 XM_005273344.2:c.320-2110…

XM_005273344.2:c.320-2110_320-2106del

N/A Intron Variant
ANGEL2 transcript variant X3 XM_005273345.2:c.320-2110…

XM_005273345.2:c.320-2110_320-2106del

N/A Intron Variant
ANGEL2 transcript variant X1 XM_005273346.3:c.320-2110…

XM_005273346.3:c.320-2110_320-2106del

N/A Intron Variant
ANGEL2 transcript variant X4 XM_005273347.4:c.149-2110…

XM_005273347.4:c.149-2110_149-2106del

N/A Intron Variant
ANGEL2 transcript variant X2 XM_017002774.2:c.320-2110…

XM_017002774.2:c.320-2110_320-2106del

N/A Intron Variant
ANGEL2 transcript variant X5 XM_047433784.1:c.7+632_7+…

XM_047433784.1:c.7+632_7+636del

N/A Intron Variant
ANGEL2 transcript variant X6 XM_047433785.1:c.386-2110…

XM_047433785.1:c.386-2110_386-2106del

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)5 del(A)4 delAAA delAA delA dupA dupAA dupAAA dup(A)4 dup(A)8 dup(A)10
GRCh38.p14 chr 1 NC_000001.11:g.213010572_213010588= NC_000001.11:g.213010584_213010588del NC_000001.11:g.213010585_213010588del NC_000001.11:g.213010586_213010588del NC_000001.11:g.213010587_213010588del NC_000001.11:g.213010588del NC_000001.11:g.213010588dup NC_000001.11:g.213010587_213010588dup NC_000001.11:g.213010586_213010588dup NC_000001.11:g.213010585_213010588dup NC_000001.11:g.213010581_213010588dup NC_000001.11:g.213010579_213010588dup
GRCh37.p13 chr 1 NC_000001.10:g.213183914_213183930= NC_000001.10:g.213183926_213183930del NC_000001.10:g.213183927_213183930del NC_000001.10:g.213183928_213183930del NC_000001.10:g.213183929_213183930del NC_000001.10:g.213183930del NC_000001.10:g.213183930dup NC_000001.10:g.213183929_213183930dup NC_000001.10:g.213183928_213183930dup NC_000001.10:g.213183927_213183930dup NC_000001.10:g.213183923_213183930dup NC_000001.10:g.213183921_213183930dup
ANGEL2 transcript variant 2 NM_001300753.2:c.7+636= NM_001300753.2:c.7+632_7+636del NM_001300753.2:c.7+633_7+636del NM_001300753.2:c.7+634_7+636del NM_001300753.2:c.7+635_7+636del NM_001300753.2:c.7+636del NM_001300753.2:c.7+636dup NM_001300753.2:c.7+635_7+636dup NM_001300753.2:c.7+634_7+636dup NM_001300753.2:c.7+633_7+636dup NM_001300753.2:c.7+629_7+636dup NM_001300753.2:c.7+627_7+636dup
ANGEL2 transcript variant 3 NM_001300755.2:c.7+636= NM_001300755.2:c.7+632_7+636del NM_001300755.2:c.7+633_7+636del NM_001300755.2:c.7+634_7+636del NM_001300755.2:c.7+635_7+636del NM_001300755.2:c.7+636del NM_001300755.2:c.7+636dup NM_001300755.2:c.7+635_7+636dup NM_001300755.2:c.7+634_7+636dup NM_001300755.2:c.7+633_7+636dup NM_001300755.2:c.7+629_7+636dup NM_001300755.2:c.7+627_7+636dup
ANGEL2 transcript variant 4 NM_001300757.2:c.-122-2106= NM_001300757.2:c.-122-2110_-122-2106del NM_001300757.2:c.-122-2109_-122-2106del NM_001300757.2:c.-122-2108_-122-2106del NM_001300757.2:c.-122-2107_-122-2106del NM_001300757.2:c.-122-2106del NM_001300757.2:c.-122-2106dup NM_001300757.2:c.-122-2107_-122-2106dup NM_001300757.2:c.-122-2108_-122-2106dup NM_001300757.2:c.-122-2109_-122-2106dup NM_001300757.2:c.-122-2113_-122-2106dup NM_001300757.2:c.-122-2115_-122-2106dup
ANGEL2 transcript variant 5 NM_001300758.2:c.-122-2106= NM_001300758.2:c.-122-2110_-122-2106del NM_001300758.2:c.-122-2109_-122-2106del NM_001300758.2:c.-122-2108_-122-2106del NM_001300758.2:c.-122-2107_-122-2106del NM_001300758.2:c.-122-2106del NM_001300758.2:c.-122-2106dup NM_001300758.2:c.-122-2107_-122-2106dup NM_001300758.2:c.-122-2108_-122-2106dup NM_001300758.2:c.-122-2109_-122-2106dup NM_001300758.2:c.-122-2113_-122-2106dup NM_001300758.2:c.-122-2115_-122-2106dup
ANGEL2 transcript NM_144567.3:c.386-2106= NM_144567.3:c.386-2110_386-2106del NM_144567.3:c.386-2109_386-2106del NM_144567.3:c.386-2108_386-2106del NM_144567.3:c.386-2107_386-2106del NM_144567.3:c.386-2106del NM_144567.3:c.386-2106dup NM_144567.3:c.386-2107_386-2106dup NM_144567.3:c.386-2108_386-2106dup NM_144567.3:c.386-2109_386-2106dup NM_144567.3:c.386-2113_386-2106dup NM_144567.3:c.386-2115_386-2106dup
ANGEL2 transcript variant 1 NM_144567.5:c.386-2106= NM_144567.5:c.386-2110_386-2106del NM_144567.5:c.386-2109_386-2106del NM_144567.5:c.386-2108_386-2106del NM_144567.5:c.386-2107_386-2106del NM_144567.5:c.386-2106del NM_144567.5:c.386-2106dup NM_144567.5:c.386-2107_386-2106dup NM_144567.5:c.386-2108_386-2106dup NM_144567.5:c.386-2109_386-2106dup NM_144567.5:c.386-2113_386-2106dup NM_144567.5:c.386-2115_386-2106dup
ANGEL2 transcript variant X1 XM_005273344.1:c.320-2106= XM_005273344.1:c.320-2110_320-2106del XM_005273344.1:c.320-2109_320-2106del XM_005273344.1:c.320-2108_320-2106del XM_005273344.1:c.320-2107_320-2106del XM_005273344.1:c.320-2106del XM_005273344.1:c.320-2106dup XM_005273344.1:c.320-2107_320-2106dup XM_005273344.1:c.320-2108_320-2106dup XM_005273344.1:c.320-2109_320-2106dup XM_005273344.1:c.320-2113_320-2106dup XM_005273344.1:c.320-2115_320-2106dup
ANGEL2 transcript variant X7 XM_005273344.2:c.320-2106= XM_005273344.2:c.320-2110_320-2106del XM_005273344.2:c.320-2109_320-2106del XM_005273344.2:c.320-2108_320-2106del XM_005273344.2:c.320-2107_320-2106del XM_005273344.2:c.320-2106del XM_005273344.2:c.320-2106dup XM_005273344.2:c.320-2107_320-2106dup XM_005273344.2:c.320-2108_320-2106dup XM_005273344.2:c.320-2109_320-2106dup XM_005273344.2:c.320-2113_320-2106dup XM_005273344.2:c.320-2115_320-2106dup
ANGEL2 transcript variant X2 XM_005273345.1:c.320-2106= XM_005273345.1:c.320-2110_320-2106del XM_005273345.1:c.320-2109_320-2106del XM_005273345.1:c.320-2108_320-2106del XM_005273345.1:c.320-2107_320-2106del XM_005273345.1:c.320-2106del XM_005273345.1:c.320-2106dup XM_005273345.1:c.320-2107_320-2106dup XM_005273345.1:c.320-2108_320-2106dup XM_005273345.1:c.320-2109_320-2106dup XM_005273345.1:c.320-2113_320-2106dup XM_005273345.1:c.320-2115_320-2106dup
ANGEL2 transcript variant X3 XM_005273345.2:c.320-2106= XM_005273345.2:c.320-2110_320-2106del XM_005273345.2:c.320-2109_320-2106del XM_005273345.2:c.320-2108_320-2106del XM_005273345.2:c.320-2107_320-2106del XM_005273345.2:c.320-2106del XM_005273345.2:c.320-2106dup XM_005273345.2:c.320-2107_320-2106dup XM_005273345.2:c.320-2108_320-2106dup XM_005273345.2:c.320-2109_320-2106dup XM_005273345.2:c.320-2113_320-2106dup XM_005273345.2:c.320-2115_320-2106dup
ANGEL2 transcript variant X3 XM_005273346.1:c.320-2106= XM_005273346.1:c.320-2110_320-2106del XM_005273346.1:c.320-2109_320-2106del XM_005273346.1:c.320-2108_320-2106del XM_005273346.1:c.320-2107_320-2106del XM_005273346.1:c.320-2106del XM_005273346.1:c.320-2106dup XM_005273346.1:c.320-2107_320-2106dup XM_005273346.1:c.320-2108_320-2106dup XM_005273346.1:c.320-2109_320-2106dup XM_005273346.1:c.320-2113_320-2106dup XM_005273346.1:c.320-2115_320-2106dup
ANGEL2 transcript variant X1 XM_005273346.3:c.320-2106= XM_005273346.3:c.320-2110_320-2106del XM_005273346.3:c.320-2109_320-2106del XM_005273346.3:c.320-2108_320-2106del XM_005273346.3:c.320-2107_320-2106del XM_005273346.3:c.320-2106del XM_005273346.3:c.320-2106dup XM_005273346.3:c.320-2107_320-2106dup XM_005273346.3:c.320-2108_320-2106dup XM_005273346.3:c.320-2109_320-2106dup XM_005273346.3:c.320-2113_320-2106dup XM_005273346.3:c.320-2115_320-2106dup
ANGEL2 transcript variant X4 XM_005273347.1:c.149-2106= XM_005273347.1:c.149-2110_149-2106del XM_005273347.1:c.149-2109_149-2106del XM_005273347.1:c.149-2108_149-2106del XM_005273347.1:c.149-2107_149-2106del XM_005273347.1:c.149-2106del XM_005273347.1:c.149-2106dup XM_005273347.1:c.149-2107_149-2106dup XM_005273347.1:c.149-2108_149-2106dup XM_005273347.1:c.149-2109_149-2106dup XM_005273347.1:c.149-2113_149-2106dup XM_005273347.1:c.149-2115_149-2106dup
ANGEL2 transcript variant X4 XM_005273347.4:c.149-2106= XM_005273347.4:c.149-2110_149-2106del XM_005273347.4:c.149-2109_149-2106del XM_005273347.4:c.149-2108_149-2106del XM_005273347.4:c.149-2107_149-2106del XM_005273347.4:c.149-2106del XM_005273347.4:c.149-2106dup XM_005273347.4:c.149-2107_149-2106dup XM_005273347.4:c.149-2108_149-2106dup XM_005273347.4:c.149-2109_149-2106dup XM_005273347.4:c.149-2113_149-2106dup XM_005273347.4:c.149-2115_149-2106dup
ANGEL2 transcript variant X5 XM_005273348.1:c.7+636= XM_005273348.1:c.7+632_7+636del XM_005273348.1:c.7+633_7+636del XM_005273348.1:c.7+634_7+636del XM_005273348.1:c.7+635_7+636del XM_005273348.1:c.7+636del XM_005273348.1:c.7+636dup XM_005273348.1:c.7+635_7+636dup XM_005273348.1:c.7+634_7+636dup XM_005273348.1:c.7+633_7+636dup XM_005273348.1:c.7+629_7+636dup XM_005273348.1:c.7+627_7+636dup
ANGEL2 transcript variant X6 XM_005273349.1:c.-122-2106= XM_005273349.1:c.-122-2110_-122-2106del XM_005273349.1:c.-122-2109_-122-2106del XM_005273349.1:c.-122-2108_-122-2106del XM_005273349.1:c.-122-2107_-122-2106del XM_005273349.1:c.-122-2106del XM_005273349.1:c.-122-2106dup XM_005273349.1:c.-122-2107_-122-2106dup XM_005273349.1:c.-122-2108_-122-2106dup XM_005273349.1:c.-122-2109_-122-2106dup XM_005273349.1:c.-122-2113_-122-2106dup XM_005273349.1:c.-122-2115_-122-2106dup
ANGEL2 transcript variant X2 XM_017002774.2:c.320-2106= XM_017002774.2:c.320-2110_320-2106del XM_017002774.2:c.320-2109_320-2106del XM_017002774.2:c.320-2108_320-2106del XM_017002774.2:c.320-2107_320-2106del XM_017002774.2:c.320-2106del XM_017002774.2:c.320-2106dup XM_017002774.2:c.320-2107_320-2106dup XM_017002774.2:c.320-2108_320-2106dup XM_017002774.2:c.320-2109_320-2106dup XM_017002774.2:c.320-2113_320-2106dup XM_017002774.2:c.320-2115_320-2106dup
ANGEL2 transcript variant X5 XM_047433784.1:c.7+636= XM_047433784.1:c.7+632_7+636del XM_047433784.1:c.7+633_7+636del XM_047433784.1:c.7+634_7+636del XM_047433784.1:c.7+635_7+636del XM_047433784.1:c.7+636del XM_047433784.1:c.7+636dup XM_047433784.1:c.7+635_7+636dup XM_047433784.1:c.7+634_7+636dup XM_047433784.1:c.7+633_7+636dup XM_047433784.1:c.7+629_7+636dup XM_047433784.1:c.7+627_7+636dup
ANGEL2 transcript variant X6 XM_047433785.1:c.386-2106= XM_047433785.1:c.386-2110_386-2106del XM_047433785.1:c.386-2109_386-2106del XM_047433785.1:c.386-2108_386-2106del XM_047433785.1:c.386-2107_386-2106del XM_047433785.1:c.386-2106del XM_047433785.1:c.386-2106dup XM_047433785.1:c.386-2107_386-2106dup XM_047433785.1:c.386-2108_386-2106dup XM_047433785.1:c.386-2109_386-2106dup XM_047433785.1:c.386-2113_386-2106dup XM_047433785.1:c.386-2115_386-2106dup
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#.

46 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 ABI ss41114478 Dec 03, 2013 (138)
2 HUMANGENOME_JCVI ss95254355 Dec 05, 2013 (138)
3 BL ss255967689 May 09, 2011 (137)
4 GMI ss288089212 May 04, 2012 (137)
5 PJP ss294624369 May 09, 2011 (137)
6 SSMP ss663155293 Apr 01, 2015 (144)
7 EVA_GENOME_DK ss1574090043 Apr 01, 2015 (144)
8 SWEGEN ss2988407753 Nov 08, 2017 (151)
9 EVA_DECODE ss3688579414 Jul 12, 2019 (153)
10 EVA_DECODE ss3688579415 Jul 12, 2019 (153)
11 EVA_DECODE ss3688579416 Jul 12, 2019 (153)
12 EVA_DECODE ss3688579417 Jul 12, 2019 (153)
13 EVA_DECODE ss3688579418 Jul 12, 2019 (153)
14 EVA_DECODE ss3688579419 Jul 12, 2019 (153)
15 PACBIO ss3783680385 Jul 12, 2019 (153)
16 PACBIO ss3783680386 Jul 12, 2019 (153)
17 PACBIO ss3789293688 Jul 12, 2019 (153)
18 PACBIO ss3794165972 Jul 12, 2019 (153)
19 EVA ss3826630172 Apr 25, 2020 (154)
20 GNOMAD ss4010844759 Apr 27, 2021 (155)
21 GNOMAD ss4010844760 Apr 27, 2021 (155)
22 GNOMAD ss4010844761 Apr 27, 2021 (155)
23 GNOMAD ss4010844762 Apr 27, 2021 (155)
24 GNOMAD ss4010844764 Apr 27, 2021 (155)
25 GNOMAD ss4010844765 Apr 27, 2021 (155)
26 GNOMAD ss4010844766 Apr 27, 2021 (155)
27 GNOMAD ss4010844767 Apr 27, 2021 (155)
28 TOMMO_GENOMICS ss5148315443 Apr 27, 2021 (155)
29 TOMMO_GENOMICS ss5148315444 Apr 27, 2021 (155)
30 TOMMO_GENOMICS ss5148315445 Apr 27, 2021 (155)
31 TOMMO_GENOMICS ss5148315446 Apr 27, 2021 (155)
32 1000G_HIGH_COVERAGE ss5245705816 Oct 17, 2022 (156)
33 1000G_HIGH_COVERAGE ss5245705817 Oct 17, 2022 (156)
34 1000G_HIGH_COVERAGE ss5245705819 Oct 17, 2022 (156)
35 1000G_HIGH_COVERAGE ss5245705820 Oct 17, 2022 (156)
36 1000G_HIGH_COVERAGE ss5245705821 Oct 17, 2022 (156)
37 HUGCELL_USP ss5446150210 Oct 17, 2022 (156)
38 HUGCELL_USP ss5446150211 Oct 17, 2022 (156)
39 HUGCELL_USP ss5446150212 Oct 17, 2022 (156)
40 HUGCELL_USP ss5446150214 Oct 17, 2022 (156)
41 TOMMO_GENOMICS ss5676043847 Oct 17, 2022 (156)
42 TOMMO_GENOMICS ss5676043848 Oct 17, 2022 (156)
43 TOMMO_GENOMICS ss5676043849 Oct 17, 2022 (156)
44 TOMMO_GENOMICS ss5676043850 Oct 17, 2022 (156)
45 EVA ss5833225293 Oct 17, 2022 (156)
46 EVA ss5849273431 Oct 17, 2022 (156)
47 The Danish reference pan genome NC_000001.10 - 213183914 Apr 25, 2020 (154)
48 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 38814534 (NC_000001.11:213010571::A 6108/101222)
Row 38814535 (NC_000001.11:213010571::AA 780/101268)
Row 38814536 (NC_000001.11:213010571::AAA 6/101294)...

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

Submission ignored due to conflicting rows:
Row 38814534 (NC_000001.11:213010571::A 6108/101222)
Row 38814535 (NC_000001.11:213010571::AA 780/101268)
Row 38814536 (NC_000001.11:213010571::AAA 6/101294)...

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

Submission ignored due to conflicting rows:
Row 38814534 (NC_000001.11:213010571::A 6108/101222)
Row 38814535 (NC_000001.11:213010571::AA 780/101268)
Row 38814536 (NC_000001.11:213010571::AAA 6/101294)...

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

Submission ignored due to conflicting rows:
Row 38814534 (NC_000001.11:213010571::A 6108/101222)
Row 38814535 (NC_000001.11:213010571::AA 780/101268)
Row 38814536 (NC_000001.11:213010571::AAA 6/101294)...

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

Submission ignored due to conflicting rows:
Row 38814534 (NC_000001.11:213010571::A 6108/101222)
Row 38814535 (NC_000001.11:213010571::AA 780/101268)
Row 38814536 (NC_000001.11:213010571::AAA 6/101294)...

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

Submission ignored due to conflicting rows:
Row 38814534 (NC_000001.11:213010571::A 6108/101222)
Row 38814535 (NC_000001.11:213010571::AA 780/101268)
Row 38814536 (NC_000001.11:213010571::AAA 6/101294)...

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

Submission ignored due to conflicting rows:
Row 38814534 (NC_000001.11:213010571::A 6108/101222)
Row 38814535 (NC_000001.11:213010571::AA 780/101268)
Row 38814536 (NC_000001.11:213010571::AAA 6/101294)...

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

Submission ignored due to conflicting rows:
Row 38814534 (NC_000001.11:213010571::A 6108/101222)
Row 38814535 (NC_000001.11:213010571::AA 780/101268)
Row 38814536 (NC_000001.11:213010571::AAA 6/101294)...

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

Submission ignored due to conflicting rows:
Row 38814534 (NC_000001.11:213010571::A 6108/101222)
Row 38814535 (NC_000001.11:213010571::AA 780/101268)
Row 38814536 (NC_000001.11:213010571::AAA 6/101294)...

- Apr 27, 2021 (155)
57 8.3KJPN

Submission ignored due to conflicting rows:
Row 6284750 (NC_000001.10:213183913::AA 786/16730)
Row 6284751 (NC_000001.10:213183913:A: 7671/16730)
Row 6284752 (NC_000001.10:213183913::A 519/16730)...

- Apr 27, 2021 (155)
58 8.3KJPN

Submission ignored due to conflicting rows:
Row 6284750 (NC_000001.10:213183913::AA 786/16730)
Row 6284751 (NC_000001.10:213183913:A: 7671/16730)
Row 6284752 (NC_000001.10:213183913::A 519/16730)...

- Apr 27, 2021 (155)
59 8.3KJPN

Submission ignored due to conflicting rows:
Row 6284750 (NC_000001.10:213183913::AA 786/16730)
Row 6284751 (NC_000001.10:213183913:A: 7671/16730)
Row 6284752 (NC_000001.10:213183913::A 519/16730)...

- Apr 27, 2021 (155)
60 8.3KJPN

Submission ignored due to conflicting rows:
Row 6284750 (NC_000001.10:213183913::AA 786/16730)
Row 6284751 (NC_000001.10:213183913:A: 7671/16730)
Row 6284752 (NC_000001.10:213183913::A 519/16730)...

- Apr 27, 2021 (155)
61 14KJPN

Submission ignored due to conflicting rows:
Row 9880951 (NC_000001.11:213010571:A: 13319/28252)
Row 9880952 (NC_000001.11:213010571::AA 1421/28252)
Row 9880953 (NC_000001.11:213010571:AA: 9/28252)...

- Oct 17, 2022 (156)
62 14KJPN

Submission ignored due to conflicting rows:
Row 9880951 (NC_000001.11:213010571:A: 13319/28252)
Row 9880952 (NC_000001.11:213010571::AA 1421/28252)
Row 9880953 (NC_000001.11:213010571:AA: 9/28252)...

- Oct 17, 2022 (156)
63 14KJPN

Submission ignored due to conflicting rows:
Row 9880951 (NC_000001.11:213010571:A: 13319/28252)
Row 9880952 (NC_000001.11:213010571::AA 1421/28252)
Row 9880953 (NC_000001.11:213010571:AA: 9/28252)...

- Oct 17, 2022 (156)
64 14KJPN

Submission ignored due to conflicting rows:
Row 9880951 (NC_000001.11:213010571:A: 13319/28252)
Row 9880952 (NC_000001.11:213010571::AA 1421/28252)
Row 9880953 (NC_000001.11:213010571:AA: 9/28252)...

- Oct 17, 2022 (156)
65 ALFA NC_000001.11 - 213010572 Apr 27, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID History Updated (Build)
rs35091157 May 11, 2012 (137)
rs72323802 May 11, 2012 (137)
rs144548200 May 11, 2012 (137)
rs374345162 May 13, 2013 (138)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4010844767 NC_000001.11:213010571:AAAAA: NC_000001.11:213010571:AAAAAAAAAAA…

NC_000001.11:213010571:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
8293866980 NC_000001.11:213010571:AAAAAAAAAAA…

NC_000001.11:213010571:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

NC_000001.11:213010571:AAAAAAAAAAA…

NC_000001.11:213010571:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss3688579419, ss4010844766 NC_000001.11:213010571:AAAA: NC_000001.11:213010571:AAAAAAAAAAA…

NC_000001.11:213010571:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
8293866980 NC_000001.11:213010571:AAAAAAAAAAA…

NC_000001.11:213010571:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

NC_000001.11:213010571:AAAAAAAAAAA…

NC_000001.11:213010571:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss4010844765 NC_000001.11:213010571:AAA: NC_000001.11:213010571:AAAAAAAAAAA…

NC_000001.11:213010571:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss3688579418 NC_000001.11:213010572:AAA: NC_000001.11:213010571:AAAAAAAAAAA…

NC_000001.11:213010571:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss2988407753, ss3783680385 NC_000001.10:213183913:AA: NC_000001.11:213010571:AAAAAAAAAAA…

NC_000001.11:213010571:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss4010844764, ss5245705820, ss5446150214, ss5676043849 NC_000001.11:213010571:AA: NC_000001.11:213010571:AAAAAAAAAAA…

NC_000001.11:213010571:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
8293866980 NC_000001.11:213010571:AAAAAAAAAAA…

NC_000001.11:213010571:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000001.11:213010571:AAAAAAAAAAA…

NC_000001.11:213010571:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3688579417 NC_000001.11:213010573:AA: NC_000001.11:213010571:AAAAAAAAAAA…

NC_000001.11:213010571:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss255967689, ss288089212 NC_000001.9:211250536:A: NC_000001.11:213010571:AAAAAAAAAAA…

NC_000001.11:213010571:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss294624369 NC_000001.9:211250552:A: NC_000001.11:213010571:AAAAAAAAAAA…

NC_000001.11:213010571:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
198415, ss663155293, ss1574090043, ss3783680386, ss3789293688, ss3794165972, ss3826630172, ss5148315444, ss5833225293 NC_000001.10:213183913:A: NC_000001.11:213010571:AAAAAAAAAAA…

NC_000001.11:213010571:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss5245705816, ss5446150210, ss5676043847, ss5849273431 NC_000001.11:213010571:A: NC_000001.11:213010571:AAAAAAAAAAA…

NC_000001.11:213010571:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
8293866980 NC_000001.11:213010571:AAAAAAAAAAA…

NC_000001.11:213010571:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000001.11:213010571:AAAAAAAAAAA…

NC_000001.11:213010571:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3688579416 NC_000001.11:213010574:A: NC_000001.11:213010571:AAAAAAAAAAA…

NC_000001.11:213010571:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss41114478, ss95254355 NT_167186.1:6701708:A: NC_000001.11:213010571:AAAAAAAAAAA…

NC_000001.11:213010571:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss5148315445 NC_000001.10:213183913::A NC_000001.11:213010571:AAAAAAAAAAA…

NC_000001.11:213010571:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss4010844759, ss5245705817, ss5446150211, ss5676043850 NC_000001.11:213010571::A NC_000001.11:213010571:AAAAAAAAAAA…

NC_000001.11:213010571:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
8293866980 NC_000001.11:213010571:AAAAAAAAAAA…

NC_000001.11:213010571:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000001.11:213010571:AAAAAAAAAAA…

NC_000001.11:213010571:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3688579415 NC_000001.11:213010575::A NC_000001.11:213010571:AAAAAAAAAAA…

NC_000001.11:213010571:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss5148315443 NC_000001.10:213183913::AA NC_000001.11:213010571:AAAAAAAAAAA…

NC_000001.11:213010571:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss4010844760, ss5245705819, ss5446150212, ss5676043848 NC_000001.11:213010571::AA NC_000001.11:213010571:AAAAAAAAAAA…

NC_000001.11:213010571:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
8293866980 NC_000001.11:213010571:AAAAAAAAAAA…

NC_000001.11:213010571:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000001.11:213010571:AAAAAAAAAAA…

NC_000001.11:213010571:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss5148315446 NC_000001.10:213183913::AAA NC_000001.11:213010571:AAAAAAAAAAA…

NC_000001.11:213010571:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss4010844761, ss5245705821 NC_000001.11:213010571::AAA NC_000001.11:213010571:AAAAAAAAAAA…

NC_000001.11:213010571:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
8293866980 NC_000001.11:213010571:AAAAAAAAAAA…

NC_000001.11:213010571:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

NC_000001.11:213010571:AAAAAAAAAAA…

NC_000001.11:213010571:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
8293866980 NC_000001.11:213010571:AAAAAAAAAAA…

NC_000001.11:213010571:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

NC_000001.11:213010571:AAAAAAAAAAA…

NC_000001.11:213010571:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA

(self)
ss3688579414 NC_000001.11:213010575::AAAAAAAA NC_000001.11:213010571:AAAAAAAAAAA…

NC_000001.11:213010571:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA

(self)
ss4010844762 NC_000001.11:213010571::AAAAAAAAAA NC_000001.11:213010571:AAAAAAAAAAA…

NC_000001.11:213010571:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA

(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 rs11339532

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