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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.

rs369129508

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr1:70242166-70242181 (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)7

Variation Type
Indel Insertion and Deletion
Frequency
del(A)5=0.0000 (0/8898, ALFA)
del(A)4=0.0000 (0/8898, ALFA)
delAAA=0.0000 (0/8898, ALFA) (+ 7 more)
delAA=0.0000 (0/8898, ALFA)
delA=0.0000 (0/8898, ALFA)
dupA=0.0000 (0/8898, ALFA)
dupAA=0.0000 (0/8898, ALFA)
dupAAA=0.0000 (0/8898, ALFA)
dupA=0.2366 (1185/5008, 1000G)
dupA=0.4 (3/8, KOREAN)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SRSF11 : 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 8898 AAAAAAAAAAAAAAAA=1.0000 AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
European Sub 6588 AAAAAAAAAAAAAAAA=1.0000 AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Sub 1492 AAAAAAAAAAAAAAAA=1.0000 AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Others Sub 64 AAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African American Sub 1428 AAAAAAAAAAAAAAAA=1.0000 AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
Asian Sub 58 AAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
East Asian Sub 44 AAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 14 AAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 84 AAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 364 AAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 34 AAAAAAAAAAAAAAAA=1.00 AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 278 AAAAAAAAAAAAAAAA=1.000 AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=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 8898 (A)16=1.0000 del(A)5=0.0000, del(A)4=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator European Sub 6588 (A)16=1.0000 del(A)5=0.0000, del(A)4=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator African Sub 1492 (A)16=1.0000 del(A)5=0.0000, del(A)4=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator Latin American 2 Sub 364 (A)16=1.000 del(A)5=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator Other Sub 278 (A)16=1.000 del(A)5=0.000, del(A)4=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator Latin American 1 Sub 84 (A)16=1.00 del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator Asian Sub 58 (A)16=1.00 del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator South Asian Sub 34 (A)16=1.00 del(A)5=0.00, del(A)4=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
1000Genomes Global Study-wide 5008 -

No frequency provided

dupA=0.2366
1000Genomes African Sub 1322 -

No frequency provided

dupA=0.1831
1000Genomes East Asian Sub 1008 -

No frequency provided

dupA=0.3065
1000Genomes Europe Sub 1006 -

No frequency provided

dupA=0.1581
1000Genomes South Asian Sub 978 -

No frequency provided

dupA=0.324
1000Genomes American Sub 694 -

No frequency provided

dupA=0.228
KOREAN population from KRGDB KOREAN Study-wide 8 -

No frequency provided

dupA=0.4
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.70242177_70242181del
GRCh38.p14 chr 1 NC_000001.11:g.70242178_70242181del
GRCh38.p14 chr 1 NC_000001.11:g.70242179_70242181del
GRCh38.p14 chr 1 NC_000001.11:g.70242180_70242181del
GRCh38.p14 chr 1 NC_000001.11:g.70242181del
GRCh38.p14 chr 1 NC_000001.11:g.70242181dup
GRCh38.p14 chr 1 NC_000001.11:g.70242180_70242181dup
GRCh38.p14 chr 1 NC_000001.11:g.70242179_70242181dup
GRCh38.p14 chr 1 NC_000001.11:g.70242178_70242181dup
GRCh38.p14 chr 1 NC_000001.11:g.70242175_70242181dup
GRCh37.p13 chr 1 NC_000001.10:g.70707860_70707864del
GRCh37.p13 chr 1 NC_000001.10:g.70707861_70707864del
GRCh37.p13 chr 1 NC_000001.10:g.70707862_70707864del
GRCh37.p13 chr 1 NC_000001.10:g.70707863_70707864del
GRCh37.p13 chr 1 NC_000001.10:g.70707864del
GRCh37.p13 chr 1 NC_000001.10:g.70707864dup
GRCh37.p13 chr 1 NC_000001.10:g.70707863_70707864dup
GRCh37.p13 chr 1 NC_000001.10:g.70707862_70707864dup
GRCh37.p13 chr 1 NC_000001.10:g.70707861_70707864dup
GRCh37.p13 chr 1 NC_000001.10:g.70707858_70707864dup
Gene: SRSF11, serine and arginine rich splicing factor 11 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
SRSF11 transcript variant 2 NM_001190987.3:c.801-2507…

NM_001190987.3:c.801-2507_801-2503del

N/A Intron Variant
SRSF11 transcript variant 3 NM_001350605.2:c.801-2507…

NM_001350605.2:c.801-2507_801-2503del

N/A Intron Variant
SRSF11 transcript variant 4 NM_001350606.2:c.801-2507…

NM_001350606.2:c.801-2507_801-2503del

N/A Intron Variant
SRSF11 transcript variant 5 NM_001350607.2:c.801-2507…

NM_001350607.2:c.801-2507_801-2503del

N/A Intron Variant
SRSF11 transcript variant 6 NM_001350608.2:c.801-2507…

NM_001350608.2:c.801-2507_801-2503del

N/A Intron Variant
SRSF11 transcript variant 7 NM_001350609.2:c.801-2507…

NM_001350609.2:c.801-2507_801-2503del

N/A Intron Variant
SRSF11 transcript variant 8 NM_001350610.2:c.231-2507…

NM_001350610.2:c.231-2507_231-2503del

N/A Intron Variant
SRSF11 transcript variant 9 NM_001350611.2:c.231-2507…

NM_001350611.2:c.231-2507_231-2503del

N/A Intron Variant
SRSF11 transcript variant 10 NM_001350612.2:c.231-2507…

NM_001350612.2:c.231-2507_231-2503del

N/A Intron Variant
SRSF11 transcript variant 11 NM_001350613.2:c.231-2507…

NM_001350613.2:c.231-2507_231-2503del

N/A Intron Variant
SRSF11 transcript variant 12 NM_001350614.2:c.231-2507…

NM_001350614.2:c.231-2507_231-2503del

N/A Intron Variant
SRSF11 transcript variant 13 NM_001350615.2:c.231-2507…

NM_001350615.2:c.231-2507_231-2503del

N/A Intron Variant
SRSF11 transcript variant 14 NM_001350616.2:c.231-2507…

NM_001350616.2:c.231-2507_231-2503del

N/A Intron Variant
SRSF11 transcript variant 16 NM_001394402.1:c.834-2507…

NM_001394402.1:c.834-2507_834-2503del

N/A Intron Variant
SRSF11 transcript variant 17 NM_001394403.1:c.834-2507…

NM_001394403.1:c.834-2507_834-2503del

N/A Intron Variant
SRSF11 transcript variant 18 NM_001394404.1:c.801-2507…

NM_001394404.1:c.801-2507_801-2503del

N/A Intron Variant
SRSF11 transcript variant 19 NM_001394405.1:c.801-2507…

NM_001394405.1:c.801-2507_801-2503del

N/A Intron Variant
SRSF11 transcript variant 20 NM_001394406.1:c.801-2507…

NM_001394406.1:c.801-2507_801-2503del

N/A Intron Variant
SRSF11 transcript variant 21 NM_001394407.1:c.801-2507…

NM_001394407.1:c.801-2507_801-2503del

N/A Intron Variant
SRSF11 transcript variant 22 NM_001394408.1:c.801-2507…

NM_001394408.1:c.801-2507_801-2503del

N/A Intron Variant
SRSF11 transcript variant 1 NM_004768.5:c.801-2507_80…

NM_004768.5:c.801-2507_801-2503del

N/A Intron Variant
SRSF11 transcript variant 15 NR_146810.2:n. N/A Intron Variant
SRSF11 transcript variant X8 XM_024450906.2:c.621-2507…

XM_024450906.2:c.621-2507_621-2503del

N/A Intron Variant
SRSF11 transcript variant X1 XM_047434514.1:c.801-2507…

XM_047434514.1:c.801-2507_801-2503del

N/A Intron Variant
SRSF11 transcript variant X2 XM_047434516.1:c.801-2507…

XM_047434516.1:c.801-2507_801-2503del

N/A Intron Variant
SRSF11 transcript variant X3 XM_047434517.1:c.801-2507…

XM_047434517.1:c.801-2507_801-2503del

N/A Intron Variant
SRSF11 transcript variant X4 XM_047434518.1:c.801-2507…

XM_047434518.1:c.801-2507_801-2503del

N/A Intron Variant
SRSF11 transcript variant X5 XM_047434522.1:c.801-2507…

XM_047434522.1:c.801-2507_801-2503del

N/A Intron Variant
SRSF11 transcript variant X6 XM_047434523.1:c.801-2507…

XM_047434523.1:c.801-2507_801-2503del

N/A Intron Variant
SRSF11 transcript variant X7 XM_047434524.1:c.801-2507…

XM_047434524.1:c.801-2507_801-2503del

N/A Intron Variant
SRSF11 transcript variant X9 XM_047434536.1:c.621-2507…

XM_047434536.1:c.621-2507_621-2503del

N/A Intron Variant
SRSF11 transcript variant X10 XM_047434541.1:c.801-2507…

XM_047434541.1:c.801-2507_801-2503del

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)16= del(A)5 del(A)4 delAAA delAA delA dupA dupAA dupAAA dup(A)4 dup(A)7
GRCh38.p14 chr 1 NC_000001.11:g.70242166_70242181= NC_000001.11:g.70242177_70242181del NC_000001.11:g.70242178_70242181del NC_000001.11:g.70242179_70242181del NC_000001.11:g.70242180_70242181del NC_000001.11:g.70242181del NC_000001.11:g.70242181dup NC_000001.11:g.70242180_70242181dup NC_000001.11:g.70242179_70242181dup NC_000001.11:g.70242178_70242181dup NC_000001.11:g.70242175_70242181dup
GRCh37.p13 chr 1 NC_000001.10:g.70707849_70707864= NC_000001.10:g.70707860_70707864del NC_000001.10:g.70707861_70707864del NC_000001.10:g.70707862_70707864del NC_000001.10:g.70707863_70707864del NC_000001.10:g.70707864del NC_000001.10:g.70707864dup NC_000001.10:g.70707863_70707864dup NC_000001.10:g.70707862_70707864dup NC_000001.10:g.70707861_70707864dup NC_000001.10:g.70707858_70707864dup
SRSF11 transcript variant 2 NM_001190987.1:c.801-2518= NM_001190987.1:c.801-2507_801-2503del NM_001190987.1:c.801-2506_801-2503del NM_001190987.1:c.801-2505_801-2503del NM_001190987.1:c.801-2504_801-2503del NM_001190987.1:c.801-2503del NM_001190987.1:c.801-2503dup NM_001190987.1:c.801-2504_801-2503dup NM_001190987.1:c.801-2505_801-2503dup NM_001190987.1:c.801-2506_801-2503dup NM_001190987.1:c.801-2509_801-2503dup
SRSF11 transcript variant 2 NM_001190987.3:c.801-2518= NM_001190987.3:c.801-2507_801-2503del NM_001190987.3:c.801-2506_801-2503del NM_001190987.3:c.801-2505_801-2503del NM_001190987.3:c.801-2504_801-2503del NM_001190987.3:c.801-2503del NM_001190987.3:c.801-2503dup NM_001190987.3:c.801-2504_801-2503dup NM_001190987.3:c.801-2505_801-2503dup NM_001190987.3:c.801-2506_801-2503dup NM_001190987.3:c.801-2509_801-2503dup
SRSF11 transcript variant 3 NM_001350605.2:c.801-2518= NM_001350605.2:c.801-2507_801-2503del NM_001350605.2:c.801-2506_801-2503del NM_001350605.2:c.801-2505_801-2503del NM_001350605.2:c.801-2504_801-2503del NM_001350605.2:c.801-2503del NM_001350605.2:c.801-2503dup NM_001350605.2:c.801-2504_801-2503dup NM_001350605.2:c.801-2505_801-2503dup NM_001350605.2:c.801-2506_801-2503dup NM_001350605.2:c.801-2509_801-2503dup
SRSF11 transcript variant 4 NM_001350606.2:c.801-2518= NM_001350606.2:c.801-2507_801-2503del NM_001350606.2:c.801-2506_801-2503del NM_001350606.2:c.801-2505_801-2503del NM_001350606.2:c.801-2504_801-2503del NM_001350606.2:c.801-2503del NM_001350606.2:c.801-2503dup NM_001350606.2:c.801-2504_801-2503dup NM_001350606.2:c.801-2505_801-2503dup NM_001350606.2:c.801-2506_801-2503dup NM_001350606.2:c.801-2509_801-2503dup
SRSF11 transcript variant 5 NM_001350607.2:c.801-2518= NM_001350607.2:c.801-2507_801-2503del NM_001350607.2:c.801-2506_801-2503del NM_001350607.2:c.801-2505_801-2503del NM_001350607.2:c.801-2504_801-2503del NM_001350607.2:c.801-2503del NM_001350607.2:c.801-2503dup NM_001350607.2:c.801-2504_801-2503dup NM_001350607.2:c.801-2505_801-2503dup NM_001350607.2:c.801-2506_801-2503dup NM_001350607.2:c.801-2509_801-2503dup
SRSF11 transcript variant 6 NM_001350608.2:c.801-2518= NM_001350608.2:c.801-2507_801-2503del NM_001350608.2:c.801-2506_801-2503del NM_001350608.2:c.801-2505_801-2503del NM_001350608.2:c.801-2504_801-2503del NM_001350608.2:c.801-2503del NM_001350608.2:c.801-2503dup NM_001350608.2:c.801-2504_801-2503dup NM_001350608.2:c.801-2505_801-2503dup NM_001350608.2:c.801-2506_801-2503dup NM_001350608.2:c.801-2509_801-2503dup
SRSF11 transcript variant 7 NM_001350609.2:c.801-2518= NM_001350609.2:c.801-2507_801-2503del NM_001350609.2:c.801-2506_801-2503del NM_001350609.2:c.801-2505_801-2503del NM_001350609.2:c.801-2504_801-2503del NM_001350609.2:c.801-2503del NM_001350609.2:c.801-2503dup NM_001350609.2:c.801-2504_801-2503dup NM_001350609.2:c.801-2505_801-2503dup NM_001350609.2:c.801-2506_801-2503dup NM_001350609.2:c.801-2509_801-2503dup
SRSF11 transcript variant 8 NM_001350610.2:c.231-2518= NM_001350610.2:c.231-2507_231-2503del NM_001350610.2:c.231-2506_231-2503del NM_001350610.2:c.231-2505_231-2503del NM_001350610.2:c.231-2504_231-2503del NM_001350610.2:c.231-2503del NM_001350610.2:c.231-2503dup NM_001350610.2:c.231-2504_231-2503dup NM_001350610.2:c.231-2505_231-2503dup NM_001350610.2:c.231-2506_231-2503dup NM_001350610.2:c.231-2509_231-2503dup
SRSF11 transcript variant 9 NM_001350611.2:c.231-2518= NM_001350611.2:c.231-2507_231-2503del NM_001350611.2:c.231-2506_231-2503del NM_001350611.2:c.231-2505_231-2503del NM_001350611.2:c.231-2504_231-2503del NM_001350611.2:c.231-2503del NM_001350611.2:c.231-2503dup NM_001350611.2:c.231-2504_231-2503dup NM_001350611.2:c.231-2505_231-2503dup NM_001350611.2:c.231-2506_231-2503dup NM_001350611.2:c.231-2509_231-2503dup
SRSF11 transcript variant 10 NM_001350612.2:c.231-2518= NM_001350612.2:c.231-2507_231-2503del NM_001350612.2:c.231-2506_231-2503del NM_001350612.2:c.231-2505_231-2503del NM_001350612.2:c.231-2504_231-2503del NM_001350612.2:c.231-2503del NM_001350612.2:c.231-2503dup NM_001350612.2:c.231-2504_231-2503dup NM_001350612.2:c.231-2505_231-2503dup NM_001350612.2:c.231-2506_231-2503dup NM_001350612.2:c.231-2509_231-2503dup
SRSF11 transcript variant 11 NM_001350613.2:c.231-2518= NM_001350613.2:c.231-2507_231-2503del NM_001350613.2:c.231-2506_231-2503del NM_001350613.2:c.231-2505_231-2503del NM_001350613.2:c.231-2504_231-2503del NM_001350613.2:c.231-2503del NM_001350613.2:c.231-2503dup NM_001350613.2:c.231-2504_231-2503dup NM_001350613.2:c.231-2505_231-2503dup NM_001350613.2:c.231-2506_231-2503dup NM_001350613.2:c.231-2509_231-2503dup
SRSF11 transcript variant 12 NM_001350614.2:c.231-2518= NM_001350614.2:c.231-2507_231-2503del NM_001350614.2:c.231-2506_231-2503del NM_001350614.2:c.231-2505_231-2503del NM_001350614.2:c.231-2504_231-2503del NM_001350614.2:c.231-2503del NM_001350614.2:c.231-2503dup NM_001350614.2:c.231-2504_231-2503dup NM_001350614.2:c.231-2505_231-2503dup NM_001350614.2:c.231-2506_231-2503dup NM_001350614.2:c.231-2509_231-2503dup
SRSF11 transcript variant 13 NM_001350615.2:c.231-2518= NM_001350615.2:c.231-2507_231-2503del NM_001350615.2:c.231-2506_231-2503del NM_001350615.2:c.231-2505_231-2503del NM_001350615.2:c.231-2504_231-2503del NM_001350615.2:c.231-2503del NM_001350615.2:c.231-2503dup NM_001350615.2:c.231-2504_231-2503dup NM_001350615.2:c.231-2505_231-2503dup NM_001350615.2:c.231-2506_231-2503dup NM_001350615.2:c.231-2509_231-2503dup
SRSF11 transcript variant 14 NM_001350616.2:c.231-2518= NM_001350616.2:c.231-2507_231-2503del NM_001350616.2:c.231-2506_231-2503del NM_001350616.2:c.231-2505_231-2503del NM_001350616.2:c.231-2504_231-2503del NM_001350616.2:c.231-2503del NM_001350616.2:c.231-2503dup NM_001350616.2:c.231-2504_231-2503dup NM_001350616.2:c.231-2505_231-2503dup NM_001350616.2:c.231-2506_231-2503dup NM_001350616.2:c.231-2509_231-2503dup
SRSF11 transcript variant 16 NM_001394402.1:c.834-2518= NM_001394402.1:c.834-2507_834-2503del NM_001394402.1:c.834-2506_834-2503del NM_001394402.1:c.834-2505_834-2503del NM_001394402.1:c.834-2504_834-2503del NM_001394402.1:c.834-2503del NM_001394402.1:c.834-2503dup NM_001394402.1:c.834-2504_834-2503dup NM_001394402.1:c.834-2505_834-2503dup NM_001394402.1:c.834-2506_834-2503dup NM_001394402.1:c.834-2509_834-2503dup
SRSF11 transcript variant 17 NM_001394403.1:c.834-2518= NM_001394403.1:c.834-2507_834-2503del NM_001394403.1:c.834-2506_834-2503del NM_001394403.1:c.834-2505_834-2503del NM_001394403.1:c.834-2504_834-2503del NM_001394403.1:c.834-2503del NM_001394403.1:c.834-2503dup NM_001394403.1:c.834-2504_834-2503dup NM_001394403.1:c.834-2505_834-2503dup NM_001394403.1:c.834-2506_834-2503dup NM_001394403.1:c.834-2509_834-2503dup
SRSF11 transcript variant 18 NM_001394404.1:c.801-2518= NM_001394404.1:c.801-2507_801-2503del NM_001394404.1:c.801-2506_801-2503del NM_001394404.1:c.801-2505_801-2503del NM_001394404.1:c.801-2504_801-2503del NM_001394404.1:c.801-2503del NM_001394404.1:c.801-2503dup NM_001394404.1:c.801-2504_801-2503dup NM_001394404.1:c.801-2505_801-2503dup NM_001394404.1:c.801-2506_801-2503dup NM_001394404.1:c.801-2509_801-2503dup
SRSF11 transcript variant 19 NM_001394405.1:c.801-2518= NM_001394405.1:c.801-2507_801-2503del NM_001394405.1:c.801-2506_801-2503del NM_001394405.1:c.801-2505_801-2503del NM_001394405.1:c.801-2504_801-2503del NM_001394405.1:c.801-2503del NM_001394405.1:c.801-2503dup NM_001394405.1:c.801-2504_801-2503dup NM_001394405.1:c.801-2505_801-2503dup NM_001394405.1:c.801-2506_801-2503dup NM_001394405.1:c.801-2509_801-2503dup
SRSF11 transcript variant 20 NM_001394406.1:c.801-2518= NM_001394406.1:c.801-2507_801-2503del NM_001394406.1:c.801-2506_801-2503del NM_001394406.1:c.801-2505_801-2503del NM_001394406.1:c.801-2504_801-2503del NM_001394406.1:c.801-2503del NM_001394406.1:c.801-2503dup NM_001394406.1:c.801-2504_801-2503dup NM_001394406.1:c.801-2505_801-2503dup NM_001394406.1:c.801-2506_801-2503dup NM_001394406.1:c.801-2509_801-2503dup
SRSF11 transcript variant 21 NM_001394407.1:c.801-2518= NM_001394407.1:c.801-2507_801-2503del NM_001394407.1:c.801-2506_801-2503del NM_001394407.1:c.801-2505_801-2503del NM_001394407.1:c.801-2504_801-2503del NM_001394407.1:c.801-2503del NM_001394407.1:c.801-2503dup NM_001394407.1:c.801-2504_801-2503dup NM_001394407.1:c.801-2505_801-2503dup NM_001394407.1:c.801-2506_801-2503dup NM_001394407.1:c.801-2509_801-2503dup
SRSF11 transcript variant 22 NM_001394408.1:c.801-2518= NM_001394408.1:c.801-2507_801-2503del NM_001394408.1:c.801-2506_801-2503del NM_001394408.1:c.801-2505_801-2503del NM_001394408.1:c.801-2504_801-2503del NM_001394408.1:c.801-2503del NM_001394408.1:c.801-2503dup NM_001394408.1:c.801-2504_801-2503dup NM_001394408.1:c.801-2505_801-2503dup NM_001394408.1:c.801-2506_801-2503dup NM_001394408.1:c.801-2509_801-2503dup
SRSF11 transcript variant 1 NM_004768.3:c.801-2518= NM_004768.3:c.801-2507_801-2503del NM_004768.3:c.801-2506_801-2503del NM_004768.3:c.801-2505_801-2503del NM_004768.3:c.801-2504_801-2503del NM_004768.3:c.801-2503del NM_004768.3:c.801-2503dup NM_004768.3:c.801-2504_801-2503dup NM_004768.3:c.801-2505_801-2503dup NM_004768.3:c.801-2506_801-2503dup NM_004768.3:c.801-2509_801-2503dup
SRSF11 transcript variant 1 NM_004768.5:c.801-2518= NM_004768.5:c.801-2507_801-2503del NM_004768.5:c.801-2506_801-2503del NM_004768.5:c.801-2505_801-2503del NM_004768.5:c.801-2504_801-2503del NM_004768.5:c.801-2503del NM_004768.5:c.801-2503dup NM_004768.5:c.801-2504_801-2503dup NM_004768.5:c.801-2505_801-2503dup NM_004768.5:c.801-2506_801-2503dup NM_004768.5:c.801-2509_801-2503dup
SRSF11 transcript variant X1 XM_005271338.1:c.801-2518= XM_005271338.1:c.801-2507_801-2503del XM_005271338.1:c.801-2506_801-2503del XM_005271338.1:c.801-2505_801-2503del XM_005271338.1:c.801-2504_801-2503del XM_005271338.1:c.801-2503del XM_005271338.1:c.801-2503dup XM_005271338.1:c.801-2504_801-2503dup XM_005271338.1:c.801-2505_801-2503dup XM_005271338.1:c.801-2506_801-2503dup XM_005271338.1:c.801-2509_801-2503dup
SRSF11 transcript variant X2 XM_005271339.1:c.801-2518= XM_005271339.1:c.801-2507_801-2503del XM_005271339.1:c.801-2506_801-2503del XM_005271339.1:c.801-2505_801-2503del XM_005271339.1:c.801-2504_801-2503del XM_005271339.1:c.801-2503del XM_005271339.1:c.801-2503dup XM_005271339.1:c.801-2504_801-2503dup XM_005271339.1:c.801-2505_801-2503dup XM_005271339.1:c.801-2506_801-2503dup XM_005271339.1:c.801-2509_801-2503dup
SRSF11 transcript variant X3 XM_005271340.1:c.801-2518= XM_005271340.1:c.801-2507_801-2503del XM_005271340.1:c.801-2506_801-2503del XM_005271340.1:c.801-2505_801-2503del XM_005271340.1:c.801-2504_801-2503del XM_005271340.1:c.801-2503del XM_005271340.1:c.801-2503dup XM_005271340.1:c.801-2504_801-2503dup XM_005271340.1:c.801-2505_801-2503dup XM_005271340.1:c.801-2506_801-2503dup XM_005271340.1:c.801-2509_801-2503dup
SRSF11 transcript variant X4 XM_005271341.1:c.801-2518= XM_005271341.1:c.801-2507_801-2503del XM_005271341.1:c.801-2506_801-2503del XM_005271341.1:c.801-2505_801-2503del XM_005271341.1:c.801-2504_801-2503del XM_005271341.1:c.801-2503del XM_005271341.1:c.801-2503dup XM_005271341.1:c.801-2504_801-2503dup XM_005271341.1:c.801-2505_801-2503dup XM_005271341.1:c.801-2506_801-2503dup XM_005271341.1:c.801-2509_801-2503dup
SRSF11 transcript variant X5 XM_005271342.1:c.621-2518= XM_005271342.1:c.621-2507_621-2503del XM_005271342.1:c.621-2506_621-2503del XM_005271342.1:c.621-2505_621-2503del XM_005271342.1:c.621-2504_621-2503del XM_005271342.1:c.621-2503del XM_005271342.1:c.621-2503dup XM_005271342.1:c.621-2504_621-2503dup XM_005271342.1:c.621-2505_621-2503dup XM_005271342.1:c.621-2506_621-2503dup XM_005271342.1:c.621-2509_621-2503dup
SRSF11 transcript variant X6 XM_005271343.1:c.621-2518= XM_005271343.1:c.621-2507_621-2503del XM_005271343.1:c.621-2506_621-2503del XM_005271343.1:c.621-2505_621-2503del XM_005271343.1:c.621-2504_621-2503del XM_005271343.1:c.621-2503del XM_005271343.1:c.621-2503dup XM_005271343.1:c.621-2504_621-2503dup XM_005271343.1:c.621-2505_621-2503dup XM_005271343.1:c.621-2506_621-2503dup XM_005271343.1:c.621-2509_621-2503dup
SRSF11 transcript variant X7 XM_005271344.1:c.621-2518= XM_005271344.1:c.621-2507_621-2503del XM_005271344.1:c.621-2506_621-2503del XM_005271344.1:c.621-2505_621-2503del XM_005271344.1:c.621-2504_621-2503del XM_005271344.1:c.621-2503del XM_005271344.1:c.621-2503dup XM_005271344.1:c.621-2504_621-2503dup XM_005271344.1:c.621-2505_621-2503dup XM_005271344.1:c.621-2506_621-2503dup XM_005271344.1:c.621-2509_621-2503dup
SRSF11 transcript variant X8 XM_005271345.1:c.231-2518= XM_005271345.1:c.231-2507_231-2503del XM_005271345.1:c.231-2506_231-2503del XM_005271345.1:c.231-2505_231-2503del XM_005271345.1:c.231-2504_231-2503del XM_005271345.1:c.231-2503del XM_005271345.1:c.231-2503dup XM_005271345.1:c.231-2504_231-2503dup XM_005271345.1:c.231-2505_231-2503dup XM_005271345.1:c.231-2506_231-2503dup XM_005271345.1:c.231-2509_231-2503dup
SRSF11 transcript variant X9 XM_005271346.1:c.231-2518= XM_005271346.1:c.231-2507_231-2503del XM_005271346.1:c.231-2506_231-2503del XM_005271346.1:c.231-2505_231-2503del XM_005271346.1:c.231-2504_231-2503del XM_005271346.1:c.231-2503del XM_005271346.1:c.231-2503dup XM_005271346.1:c.231-2504_231-2503dup XM_005271346.1:c.231-2505_231-2503dup XM_005271346.1:c.231-2506_231-2503dup XM_005271346.1:c.231-2509_231-2503dup
SRSF11 transcript variant X8 XM_024450906.2:c.621-2518= XM_024450906.2:c.621-2507_621-2503del XM_024450906.2:c.621-2506_621-2503del XM_024450906.2:c.621-2505_621-2503del XM_024450906.2:c.621-2504_621-2503del XM_024450906.2:c.621-2503del XM_024450906.2:c.621-2503dup XM_024450906.2:c.621-2504_621-2503dup XM_024450906.2:c.621-2505_621-2503dup XM_024450906.2:c.621-2506_621-2503dup XM_024450906.2:c.621-2509_621-2503dup
SRSF11 transcript variant X1 XM_047434514.1:c.801-2518= XM_047434514.1:c.801-2507_801-2503del XM_047434514.1:c.801-2506_801-2503del XM_047434514.1:c.801-2505_801-2503del XM_047434514.1:c.801-2504_801-2503del XM_047434514.1:c.801-2503del XM_047434514.1:c.801-2503dup XM_047434514.1:c.801-2504_801-2503dup XM_047434514.1:c.801-2505_801-2503dup XM_047434514.1:c.801-2506_801-2503dup XM_047434514.1:c.801-2509_801-2503dup
SRSF11 transcript variant X2 XM_047434516.1:c.801-2518= XM_047434516.1:c.801-2507_801-2503del XM_047434516.1:c.801-2506_801-2503del XM_047434516.1:c.801-2505_801-2503del XM_047434516.1:c.801-2504_801-2503del XM_047434516.1:c.801-2503del XM_047434516.1:c.801-2503dup XM_047434516.1:c.801-2504_801-2503dup XM_047434516.1:c.801-2505_801-2503dup XM_047434516.1:c.801-2506_801-2503dup XM_047434516.1:c.801-2509_801-2503dup
SRSF11 transcript variant X3 XM_047434517.1:c.801-2518= XM_047434517.1:c.801-2507_801-2503del XM_047434517.1:c.801-2506_801-2503del XM_047434517.1:c.801-2505_801-2503del XM_047434517.1:c.801-2504_801-2503del XM_047434517.1:c.801-2503del XM_047434517.1:c.801-2503dup XM_047434517.1:c.801-2504_801-2503dup XM_047434517.1:c.801-2505_801-2503dup XM_047434517.1:c.801-2506_801-2503dup XM_047434517.1:c.801-2509_801-2503dup
SRSF11 transcript variant X4 XM_047434518.1:c.801-2518= XM_047434518.1:c.801-2507_801-2503del XM_047434518.1:c.801-2506_801-2503del XM_047434518.1:c.801-2505_801-2503del XM_047434518.1:c.801-2504_801-2503del XM_047434518.1:c.801-2503del XM_047434518.1:c.801-2503dup XM_047434518.1:c.801-2504_801-2503dup XM_047434518.1:c.801-2505_801-2503dup XM_047434518.1:c.801-2506_801-2503dup XM_047434518.1:c.801-2509_801-2503dup
SRSF11 transcript variant X5 XM_047434522.1:c.801-2518= XM_047434522.1:c.801-2507_801-2503del XM_047434522.1:c.801-2506_801-2503del XM_047434522.1:c.801-2505_801-2503del XM_047434522.1:c.801-2504_801-2503del XM_047434522.1:c.801-2503del XM_047434522.1:c.801-2503dup XM_047434522.1:c.801-2504_801-2503dup XM_047434522.1:c.801-2505_801-2503dup XM_047434522.1:c.801-2506_801-2503dup XM_047434522.1:c.801-2509_801-2503dup
SRSF11 transcript variant X6 XM_047434523.1:c.801-2518= XM_047434523.1:c.801-2507_801-2503del XM_047434523.1:c.801-2506_801-2503del XM_047434523.1:c.801-2505_801-2503del XM_047434523.1:c.801-2504_801-2503del XM_047434523.1:c.801-2503del XM_047434523.1:c.801-2503dup XM_047434523.1:c.801-2504_801-2503dup XM_047434523.1:c.801-2505_801-2503dup XM_047434523.1:c.801-2506_801-2503dup XM_047434523.1:c.801-2509_801-2503dup
SRSF11 transcript variant X7 XM_047434524.1:c.801-2518= XM_047434524.1:c.801-2507_801-2503del XM_047434524.1:c.801-2506_801-2503del XM_047434524.1:c.801-2505_801-2503del XM_047434524.1:c.801-2504_801-2503del XM_047434524.1:c.801-2503del XM_047434524.1:c.801-2503dup XM_047434524.1:c.801-2504_801-2503dup XM_047434524.1:c.801-2505_801-2503dup XM_047434524.1:c.801-2506_801-2503dup XM_047434524.1:c.801-2509_801-2503dup
SRSF11 transcript variant X9 XM_047434536.1:c.621-2518= XM_047434536.1:c.621-2507_621-2503del XM_047434536.1:c.621-2506_621-2503del XM_047434536.1:c.621-2505_621-2503del XM_047434536.1:c.621-2504_621-2503del XM_047434536.1:c.621-2503del XM_047434536.1:c.621-2503dup XM_047434536.1:c.621-2504_621-2503dup XM_047434536.1:c.621-2505_621-2503dup XM_047434536.1:c.621-2506_621-2503dup XM_047434536.1:c.621-2509_621-2503dup
SRSF11 transcript variant X10 XM_047434541.1:c.801-2518= XM_047434541.1:c.801-2507_801-2503del XM_047434541.1:c.801-2506_801-2503del XM_047434541.1:c.801-2505_801-2503del XM_047434541.1:c.801-2504_801-2503del XM_047434541.1:c.801-2503del XM_047434541.1:c.801-2503dup XM_047434541.1:c.801-2504_801-2503dup XM_047434541.1:c.801-2505_801-2503dup XM_047434541.1:c.801-2506_801-2503dup XM_047434541.1:c.801-2509_801-2503dup
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#.

45 SubSNP, 23 Frequency submissions
No Submitter Submission ID Date (Build)
1 HGSV ss81076678 Oct 11, 2018 (152)
2 SSMP ss663201941 Apr 01, 2015 (144)
3 SSIP ss947022543 Aug 21, 2014 (142)
4 1000GENOMES ss1367725243 Aug 21, 2014 (142)
5 SWEGEN ss2986984425 Nov 08, 2017 (151)
6 MCHAISSO ss3063592538 Nov 08, 2017 (151)
7 EVA_DECODE ss3686978342 Jul 12, 2019 (153)
8 EVA_DECODE ss3686978343 Jul 12, 2019 (153)
9 EVA_DECODE ss3686978344 Jul 12, 2019 (153)
10 EVA_DECODE ss3686978345 Jul 12, 2019 (153)
11 ACPOP ss3727139324 Jul 12, 2019 (153)
12 ACPOP ss3727139325 Jul 12, 2019 (153)
13 PACBIO ss3783439241 Jul 12, 2019 (153)
14 KHV_HUMAN_GENOMES ss3799339809 Jul 12, 2019 (153)
15 EVA ss3826226220 Apr 25, 2020 (154)
16 EVA ss3836500745 Apr 25, 2020 (154)
17 EVA ss3841907427 Apr 25, 2020 (154)
18 KRGDB ss3894099039 Apr 25, 2020 (154)
19 GNOMAD ss3995487430 Apr 25, 2021 (155)
20 GNOMAD ss3995487431 Apr 25, 2021 (155)
21 GNOMAD ss3995487432 Apr 25, 2021 (155)
22 GNOMAD ss3995487433 Apr 25, 2021 (155)
23 GNOMAD ss3995487434 Apr 25, 2021 (155)
24 GNOMAD ss3995487435 Apr 25, 2021 (155)
25 GNOMAD ss3995487436 Apr 25, 2021 (155)
26 GNOMAD ss3995487437 Apr 25, 2021 (155)
27 GNOMAD ss3995487438 Apr 25, 2021 (155)
28 TOMMO_GENOMICS ss5144420074 Apr 25, 2021 (155)
29 TOMMO_GENOMICS ss5144420075 Apr 25, 2021 (155)
30 TOMMO_GENOMICS ss5144420076 Apr 25, 2021 (155)
31 TOMMO_GENOMICS ss5144420077 Apr 25, 2021 (155)
32 1000G_HIGH_COVERAGE ss5242634141 Oct 12, 2022 (156)
33 1000G_HIGH_COVERAGE ss5242634142 Oct 12, 2022 (156)
34 1000G_HIGH_COVERAGE ss5242634143 Oct 12, 2022 (156)
35 1000G_HIGH_COVERAGE ss5242634144 Oct 12, 2022 (156)
36 HUGCELL_USP ss5443661238 Oct 12, 2022 (156)
37 HUGCELL_USP ss5443661239 Oct 12, 2022 (156)
38 HUGCELL_USP ss5443661240 Oct 12, 2022 (156)
39 HUGCELL_USP ss5443661241 Oct 12, 2022 (156)
40 TOMMO_GENOMICS ss5669326508 Oct 12, 2022 (156)
41 TOMMO_GENOMICS ss5669326509 Oct 12, 2022 (156)
42 TOMMO_GENOMICS ss5669326510 Oct 12, 2022 (156)
43 TOMMO_GENOMICS ss5669326511 Oct 12, 2022 (156)
44 TOMMO_GENOMICS ss5669326512 Oct 12, 2022 (156)
45 EVA ss5848950900 Oct 12, 2022 (156)
46 1000Genomes NC_000001.10 - 70707849 Oct 11, 2018 (152)
47 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 14441839 (NC_000001.11:70242165::A 24216/124882)
Row 14441840 (NC_000001.11:70242165::AA 71/125010)
Row 14441841 (NC_000001.11:70242165::AAA 15/125024)...

- Apr 25, 2021 (155)
48 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 14441839 (NC_000001.11:70242165::A 24216/124882)
Row 14441840 (NC_000001.11:70242165::AA 71/125010)
Row 14441841 (NC_000001.11:70242165::AAA 15/125024)...

- Apr 25, 2021 (155)
49 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 14441839 (NC_000001.11:70242165::A 24216/124882)
Row 14441840 (NC_000001.11:70242165::AA 71/125010)
Row 14441841 (NC_000001.11:70242165::AAA 15/125024)...

- Apr 25, 2021 (155)
50 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 14441839 (NC_000001.11:70242165::A 24216/124882)
Row 14441840 (NC_000001.11:70242165::AA 71/125010)
Row 14441841 (NC_000001.11:70242165::AAA 15/125024)...

- Apr 25, 2021 (155)
51 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 14441839 (NC_000001.11:70242165::A 24216/124882)
Row 14441840 (NC_000001.11:70242165::AA 71/125010)
Row 14441841 (NC_000001.11:70242165::AAA 15/125024)...

- Apr 25, 2021 (155)
52 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 14441839 (NC_000001.11:70242165::A 24216/124882)
Row 14441840 (NC_000001.11:70242165::AA 71/125010)
Row 14441841 (NC_000001.11:70242165::AAA 15/125024)...

- Apr 25, 2021 (155)
53 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 14441839 (NC_000001.11:70242165::A 24216/124882)
Row 14441840 (NC_000001.11:70242165::AA 71/125010)
Row 14441841 (NC_000001.11:70242165::AAA 15/125024)...

- Apr 25, 2021 (155)
54 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 14441839 (NC_000001.11:70242165::A 24216/124882)
Row 14441840 (NC_000001.11:70242165::AA 71/125010)
Row 14441841 (NC_000001.11:70242165::AAA 15/125024)...

- Apr 25, 2021 (155)
55 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 14441839 (NC_000001.11:70242165::A 24216/124882)
Row 14441840 (NC_000001.11:70242165::AA 71/125010)
Row 14441841 (NC_000001.11:70242165::AAA 15/125024)...

- Apr 25, 2021 (155)
56 KOREAN population from KRGDB NC_000001.10 - 70707849 Apr 25, 2020 (154)
57 Northern Sweden

Submission ignored due to conflicting rows:
Row 424189 (NC_000001.10:70707848::A 27/522)
Row 424190 (NC_000001.10:70707848:A: 32/522)

- Jul 12, 2019 (153)
58 Northern Sweden

Submission ignored due to conflicting rows:
Row 424189 (NC_000001.10:70707848::A 27/522)
Row 424190 (NC_000001.10:70707848:A: 32/522)

- Jul 12, 2019 (153)
59 8.3KJPN

Submission ignored due to conflicting rows:
Row 2389381 (NC_000001.10:70707848::A 6279/16742)
Row 2389382 (NC_000001.10:70707848:A: 21/16742)
Row 2389383 (NC_000001.10:70707848::AA 7/16742)...

- Apr 25, 2021 (155)
60 8.3KJPN

Submission ignored due to conflicting rows:
Row 2389381 (NC_000001.10:70707848::A 6279/16742)
Row 2389382 (NC_000001.10:70707848:A: 21/16742)
Row 2389383 (NC_000001.10:70707848::AA 7/16742)...

- Apr 25, 2021 (155)
61 8.3KJPN

Submission ignored due to conflicting rows:
Row 2389381 (NC_000001.10:70707848::A 6279/16742)
Row 2389382 (NC_000001.10:70707848:A: 21/16742)
Row 2389383 (NC_000001.10:70707848::AA 7/16742)...

- Apr 25, 2021 (155)
62 8.3KJPN

Submission ignored due to conflicting rows:
Row 2389381 (NC_000001.10:70707848::A 6279/16742)
Row 2389382 (NC_000001.10:70707848:A: 21/16742)
Row 2389383 (NC_000001.10:70707848::AA 7/16742)...

- Apr 25, 2021 (155)
63 14KJPN

Submission ignored due to conflicting rows:
Row 3163612 (NC_000001.11:70242165::A 10836/28258)
Row 3163613 (NC_000001.11:70242165:A: 27/28258)
Row 3163614 (NC_000001.11:70242165::AA 7/28258)...

- Oct 12, 2022 (156)
64 14KJPN

Submission ignored due to conflicting rows:
Row 3163612 (NC_000001.11:70242165::A 10836/28258)
Row 3163613 (NC_000001.11:70242165:A: 27/28258)
Row 3163614 (NC_000001.11:70242165::AA 7/28258)...

- Oct 12, 2022 (156)
65 14KJPN

Submission ignored due to conflicting rows:
Row 3163612 (NC_000001.11:70242165::A 10836/28258)
Row 3163613 (NC_000001.11:70242165:A: 27/28258)
Row 3163614 (NC_000001.11:70242165::AA 7/28258)...

- Oct 12, 2022 (156)
66 14KJPN

Submission ignored due to conflicting rows:
Row 3163612 (NC_000001.11:70242165::A 10836/28258)
Row 3163613 (NC_000001.11:70242165:A: 27/28258)
Row 3163614 (NC_000001.11:70242165::AA 7/28258)...

- Oct 12, 2022 (156)
67 14KJPN

Submission ignored due to conflicting rows:
Row 3163612 (NC_000001.11:70242165::A 10836/28258)
Row 3163613 (NC_000001.11:70242165:A: 27/28258)
Row 3163614 (NC_000001.11:70242165::AA 7/28258)...

- Oct 12, 2022 (156)
68 ALFA NC_000001.11 - 70242166 Apr 25, 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
ss3995487438, ss5443661241 NC_000001.11:70242165:AAAAA: NC_000001.11:70242165:AAAAAAAAAAAA…

NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
5195574127 NC_000001.11:70242165:AAAAAAAAAAAA…

NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAA

NC_000001.11:70242165:AAAAAAAAAAAA…

NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
ss5144420077 NC_000001.10:70707848:AAAA: NC_000001.11:70242165:AAAAAAAAAAAA…

NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss3995487437, ss5669326511 NC_000001.11:70242165:AAAA: NC_000001.11:70242165:AAAAAAAAAAAA…

NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
5195574127 NC_000001.11:70242165:AAAAAAAAAAAA…

NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA

NC_000001.11:70242165:AAAAAAAAAAAA…

NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss3995487436, ss5669326512 NC_000001.11:70242165:AAA: NC_000001.11:70242165:AAAAAAAAAAAA…

NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
5195574127 NC_000001.11:70242165:AAAAAAAAAAAA…

NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

NC_000001.11:70242165:AAAAAAAAAAAA…

NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss3686978345, ss3995487435, ss5242634143 NC_000001.11:70242165:AA: NC_000001.11:70242165:AAAAAAAAAAAA…

NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
5195574127 NC_000001.11:70242165:AAAAAAAAAAAA…

NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000001.11:70242165:AAAAAAAAAAAA…

NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss2986984425, ss3727139325, ss3783439241, ss3826226220, ss5144420075 NC_000001.10:70707848:A: NC_000001.11:70242165:AAAAAAAAAAAA…

NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3995487434, ss5242634142, ss5443661238, ss5669326509 NC_000001.11:70242165:A: NC_000001.11:70242165:AAAAAAAAAAAA…

NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
5195574127 NC_000001.11:70242165:AAAAAAAAAAAA…

NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000001.11:70242165:AAAAAAAAAAAA…

NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3686978344 NC_000001.11:70242166:A: NC_000001.11:70242165:AAAAAAAAAAAA…

NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
2047112, 1276433, ss663201941, ss1367725243, ss3727139324, ss3836500745, ss3894099039, ss5144420074 NC_000001.10:70707848::A NC_000001.11:70242165:AAAAAAAAAAAA…

NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss947022543 NC_000001.10:70707849::A NC_000001.11:70242165:AAAAAAAAAAAA…

NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3063592538, ss3799339809, ss3841907427, ss3995487430, ss5242634141, ss5443661239, ss5669326508, ss5848950900 NC_000001.11:70242165::A NC_000001.11:70242165:AAAAAAAAAAAA…

NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
5195574127 NC_000001.11:70242165:AAAAAAAAAAAA…

NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000001.11:70242165:AAAAAAAAAAAA…

NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3686978343 NC_000001.11:70242167::A NC_000001.11:70242165:AAAAAAAAAAAA…

NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss81076678 NT_032977.9:40679782::A NC_000001.11:70242165:AAAAAAAAAAAA…

NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss5144420076 NC_000001.10:70707848::AA NC_000001.11:70242165:AAAAAAAAAAAA…

NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3995487431, ss5242634144, ss5443661240, ss5669326510 NC_000001.11:70242165::AA NC_000001.11:70242165:AAAAAAAAAAAA…

NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
5195574127 NC_000001.11:70242165:AAAAAAAAAAAA…

NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000001.11:70242165:AAAAAAAAAAAA…

NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3995487432 NC_000001.11:70242165::AAA NC_000001.11:70242165:AAAAAAAAAAAA…

NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
5195574127 NC_000001.11:70242165:AAAAAAAAAAAA…

NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000001.11:70242165:AAAAAAAAAAAA…

NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
ss3995487433 NC_000001.11:70242165::AAAA NC_000001.11:70242165:AAAAAAAAAAAA…

NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA

(self)
ss3686978342 NC_000001.11:70242167::AAAAAAA NC_000001.11:70242165:AAAAAAAAAAAA…

NC_000001.11:70242165:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

(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 rs369129508

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