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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.

rs34438270

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr13:102370937-102370950 (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
delAA / delA / dupA / dupAA / dupA…

delAA / delA / dupA / dupAA / dupAAA / dup(A)4 / dup(A)9

Variation Type
Indel Insertion and Deletion
Frequency
dupAA=0.02742 (345/12584, ALFA)
dupAA=0.1738 (670/3854, ALSPAC)
dupAA=0.1726 (640/3708, TWINSUK) (+ 1 more)
dupAA=0.25 (10/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
FGF14 : Intron Variant
FGF14-AS1 : Intron Variant
FGF14-IT1 : 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 12584 AAAAAAAAAAAAAA=0.97203 AAAAAAAAAAAA=0.00000, AAAAAAAAAAAAA=0.00016, AAAAAAAAAAAAAAA=0.00024, AAAAAAAAAAAAAAAA=0.02742, AAAAAAAAAAAAAAAAA=0.00016, AAAAAAAAAAAAAAAAAA=0.00000 0.948996 0.003666 0.047338 32
European Sub 9460 AAAAAAAAAAAAAA=0.9628 AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0002, AAAAAAAAAAAAAAA=0.0003, AAAAAAAAAAAAAAAA=0.0365, AAAAAAAAAAAAAAAAA=0.0002, AAAAAAAAAAAAAAAAAA=0.0000 0.932088 0.004881 0.063031 26
African Sub 2066 AAAAAAAAAAAAAA=1.0000 AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
African Others Sub 80 AAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African American Sub 1986 AAAAAAAAAAAAAA=1.0000 AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000 1.0 0.0 0.0 N/A
Asian Sub 68 AAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
East Asian Sub 52 AAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 16 AAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 1 Sub 98 AAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 460 AAAAAAAAAAAAAA=1.000 AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000 1.0 0.0 0.0 N/A
South Asian Sub 66 AAAAAAAAAAAAAA=1.00 AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Sub 366 AAAAAAAAAAAAAA=1.000 AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=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 12584 (A)14=0.97203 delAA=0.00000, delA=0.00016, dupA=0.00024, dupAA=0.02742, dupAAA=0.00016, dup(A)4=0.00000
Allele Frequency Aggregator European Sub 9460 (A)14=0.9628 delAA=0.0000, delA=0.0002, dupA=0.0003, dupAA=0.0365, dupAAA=0.0002, dup(A)4=0.0000
Allele Frequency Aggregator African Sub 2066 (A)14=1.0000 delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)4=0.0000
Allele Frequency Aggregator Latin American 2 Sub 460 (A)14=1.000 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 366 (A)14=1.000 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 98 (A)14=1.00 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 68 (A)14=1.00 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 66 (A)14=1.00 delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)4=0.00
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 -

No frequency provided

dupAA=0.1738
UK 10K study - Twins TWIN COHORT Study-wide 3708 -

No frequency provided

dupAA=0.1726
The Danish reference pan genome Danish Study-wide 40 -

No frequency provided

dupAA=0.25
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 13 NC_000013.11:g.102370949_102370950del
GRCh38.p14 chr 13 NC_000013.11:g.102370950del
GRCh38.p14 chr 13 NC_000013.11:g.102370950dup
GRCh38.p14 chr 13 NC_000013.11:g.102370949_102370950dup
GRCh38.p14 chr 13 NC_000013.11:g.102370948_102370950dup
GRCh38.p14 chr 13 NC_000013.11:g.102370947_102370950dup
GRCh38.p14 chr 13 NC_000013.11:g.102370942_102370950dup
GRCh37.p13 chr 13 NC_000013.10:g.103023299_103023300del
GRCh37.p13 chr 13 NC_000013.10:g.103023300del
GRCh37.p13 chr 13 NC_000013.10:g.103023300dup
GRCh37.p13 chr 13 NC_000013.10:g.103023299_103023300dup
GRCh37.p13 chr 13 NC_000013.10:g.103023298_103023300dup
GRCh37.p13 chr 13 NC_000013.10:g.103023297_103023300dup
GRCh37.p13 chr 13 NC_000013.10:g.103023292_103023300dup
FGF14 RefSeqGene NG_008317.2:g.35837_35838del
FGF14 RefSeqGene NG_008317.2:g.35838del
FGF14 RefSeqGene NG_008317.2:g.35838dup
FGF14 RefSeqGene NG_008317.2:g.35837_35838dup
FGF14 RefSeqGene NG_008317.2:g.35836_35838dup
FGF14 RefSeqGene NG_008317.2:g.35835_35838dup
FGF14 RefSeqGene NG_008317.2:g.35830_35838dup
Gene: FGF14, fibroblast growth factor 14 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
FGF14 transcript variant 9 NM_001321937.2:c.208+3053…

NM_001321937.2:c.208+30533_208+30534del

N/A Intron Variant
FGF14 transcript variant 10 NM_001321938.2:c.-225+305…

NM_001321938.2:c.-225+30533_-225+30534del

N/A Intron Variant
FGF14 transcript variant 11 NM_001321939.2:c.208+3053…

NM_001321939.2:c.208+30533_208+30534del

N/A Intron Variant
FGF14 transcript variant 12 NM_001321940.1:c.-225+305…

NM_001321940.1:c.-225+30533_-225+30534del

N/A Intron Variant
FGF14 transcript variant 13 NM_001321941.2:c.-61+3053…

NM_001321941.2:c.-61+30533_-61+30534del

N/A Intron Variant
FGF14 transcript variant 14 NM_001321942.1:c.-60+2282…

NM_001321942.1:c.-60+22820_-60+22821del

N/A Intron Variant
FGF14 transcript variant 15 NM_001321943.1:c.-171+305…

NM_001321943.1:c.-171+30533_-171+30534del

N/A Intron Variant
FGF14 transcript variant 16 NM_001321944.1:c.-324+305…

NM_001321944.1:c.-324+30533_-324+30534del

N/A Intron Variant
FGF14 transcript variant 17 NM_001321945.2:c.91+30533…

NM_001321945.2:c.91+30533_91+30534del

N/A Intron Variant
FGF14 transcript variant 18 NM_001321946.2:c.-228-432…

NM_001321946.2:c.-228-4325_-228-4324del

N/A Intron Variant
FGF14 transcript variant 19 NM_001321947.2:c.52+30533…

NM_001321947.2:c.52+30533_52+30534del

N/A Intron Variant
FGF14 transcript variant 20 NM_001321948.2:c.91+30533…

NM_001321948.2:c.91+30533_91+30534del

N/A Intron Variant
FGF14 transcript variant 21 NM_001321949.1:c.-228-432…

NM_001321949.1:c.-228-4325_-228-4324del

N/A Intron Variant
FGF14 transcript variant 22 NM_001379342.1:c.91+30533…

NM_001379342.1:c.91+30533_91+30534del

N/A Intron Variant
FGF14 transcript variant 2 NM_175929.3:c.208+30533_2…

NM_175929.3:c.208+30533_208+30534del

N/A Intron Variant
FGF14 transcript variant 3 NM_001321931.1:c. N/A Genic Upstream Transcript Variant
FGF14 transcript variant 4 NM_001321932.1:c. N/A Genic Upstream Transcript Variant
FGF14 transcript variant 5 NM_001321933.1:c. N/A Genic Upstream Transcript Variant
FGF14 transcript variant 6 NM_001321934.1:c. N/A Genic Upstream Transcript Variant
FGF14 transcript variant 7 NM_001321935.1:c. N/A Genic Upstream Transcript Variant
FGF14 transcript variant 8 NM_001321936.1:c. N/A Genic Upstream Transcript Variant
FGF14 transcript variant 1 NM_004115.4:c. N/A Genic Upstream Transcript Variant
Gene: FGF14-IT1, FGF14 intronic transcript 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
FGF14-IT1 transcript NR_036486.1:n. N/A Intron Variant
Gene: FGF14-AS1, FGF14 antisense RNA 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
FGF14-AS1 transcript NR_125912.1:n. 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)14= delAA delA dupA dupAA dupAAA dup(A)4 dup(A)9
GRCh38.p14 chr 13 NC_000013.11:g.102370937_102370950= NC_000013.11:g.102370949_102370950del NC_000013.11:g.102370950del NC_000013.11:g.102370950dup NC_000013.11:g.102370949_102370950dup NC_000013.11:g.102370948_102370950dup NC_000013.11:g.102370947_102370950dup NC_000013.11:g.102370942_102370950dup
GRCh37.p13 chr 13 NC_000013.10:g.103023287_103023300= NC_000013.10:g.103023299_103023300del NC_000013.10:g.103023300del NC_000013.10:g.103023300dup NC_000013.10:g.103023299_103023300dup NC_000013.10:g.103023298_103023300dup NC_000013.10:g.103023297_103023300dup NC_000013.10:g.103023292_103023300dup
FGF14 RefSeqGene NG_008317.2:g.35825_35838= NG_008317.2:g.35837_35838del NG_008317.2:g.35838del NG_008317.2:g.35838dup NG_008317.2:g.35837_35838dup NG_008317.2:g.35836_35838dup NG_008317.2:g.35835_35838dup NG_008317.2:g.35830_35838dup
FGF14 transcript variant 9 NM_001321937.2:c.208+30534= NM_001321937.2:c.208+30533_208+30534del NM_001321937.2:c.208+30534del NM_001321937.2:c.208+30534dup NM_001321937.2:c.208+30533_208+30534dup NM_001321937.2:c.208+30532_208+30534dup NM_001321937.2:c.208+30531_208+30534dup NM_001321937.2:c.208+30526_208+30534dup
FGF14 transcript variant 10 NM_001321938.2:c.-225+30534= NM_001321938.2:c.-225+30533_-225+30534del NM_001321938.2:c.-225+30534del NM_001321938.2:c.-225+30534dup NM_001321938.2:c.-225+30533_-225+30534dup NM_001321938.2:c.-225+30532_-225+30534dup NM_001321938.2:c.-225+30531_-225+30534dup NM_001321938.2:c.-225+30526_-225+30534dup
FGF14 transcript variant 11 NM_001321939.2:c.208+30534= NM_001321939.2:c.208+30533_208+30534del NM_001321939.2:c.208+30534del NM_001321939.2:c.208+30534dup NM_001321939.2:c.208+30533_208+30534dup NM_001321939.2:c.208+30532_208+30534dup NM_001321939.2:c.208+30531_208+30534dup NM_001321939.2:c.208+30526_208+30534dup
FGF14 transcript variant 12 NM_001321940.1:c.-225+30534= NM_001321940.1:c.-225+30533_-225+30534del NM_001321940.1:c.-225+30534del NM_001321940.1:c.-225+30534dup NM_001321940.1:c.-225+30533_-225+30534dup NM_001321940.1:c.-225+30532_-225+30534dup NM_001321940.1:c.-225+30531_-225+30534dup NM_001321940.1:c.-225+30526_-225+30534dup
FGF14 transcript variant 13 NM_001321941.2:c.-61+30534= NM_001321941.2:c.-61+30533_-61+30534del NM_001321941.2:c.-61+30534del NM_001321941.2:c.-61+30534dup NM_001321941.2:c.-61+30533_-61+30534dup NM_001321941.2:c.-61+30532_-61+30534dup NM_001321941.2:c.-61+30531_-61+30534dup NM_001321941.2:c.-61+30526_-61+30534dup
FGF14 transcript variant 14 NM_001321942.1:c.-60+22821= NM_001321942.1:c.-60+22820_-60+22821del NM_001321942.1:c.-60+22821del NM_001321942.1:c.-60+22821dup NM_001321942.1:c.-60+22820_-60+22821dup NM_001321942.1:c.-60+22819_-60+22821dup NM_001321942.1:c.-60+22818_-60+22821dup NM_001321942.1:c.-60+22813_-60+22821dup
FGF14 transcript variant 15 NM_001321943.1:c.-171+30534= NM_001321943.1:c.-171+30533_-171+30534del NM_001321943.1:c.-171+30534del NM_001321943.1:c.-171+30534dup NM_001321943.1:c.-171+30533_-171+30534dup NM_001321943.1:c.-171+30532_-171+30534dup NM_001321943.1:c.-171+30531_-171+30534dup NM_001321943.1:c.-171+30526_-171+30534dup
FGF14 transcript variant 16 NM_001321944.1:c.-324+30534= NM_001321944.1:c.-324+30533_-324+30534del NM_001321944.1:c.-324+30534del NM_001321944.1:c.-324+30534dup NM_001321944.1:c.-324+30533_-324+30534dup NM_001321944.1:c.-324+30532_-324+30534dup NM_001321944.1:c.-324+30531_-324+30534dup NM_001321944.1:c.-324+30526_-324+30534dup
FGF14 transcript variant 17 NM_001321945.2:c.91+30534= NM_001321945.2:c.91+30533_91+30534del NM_001321945.2:c.91+30534del NM_001321945.2:c.91+30534dup NM_001321945.2:c.91+30533_91+30534dup NM_001321945.2:c.91+30532_91+30534dup NM_001321945.2:c.91+30531_91+30534dup NM_001321945.2:c.91+30526_91+30534dup
FGF14 transcript variant 18 NM_001321946.2:c.-228-4324= NM_001321946.2:c.-228-4325_-228-4324del NM_001321946.2:c.-228-4324del NM_001321946.2:c.-228-4324dup NM_001321946.2:c.-228-4325_-228-4324dup NM_001321946.2:c.-228-4326_-228-4324dup NM_001321946.2:c.-228-4327_-228-4324dup NM_001321946.2:c.-228-4332_-228-4324dup
FGF14 transcript variant 19 NM_001321947.2:c.52+30534= NM_001321947.2:c.52+30533_52+30534del NM_001321947.2:c.52+30534del NM_001321947.2:c.52+30534dup NM_001321947.2:c.52+30533_52+30534dup NM_001321947.2:c.52+30532_52+30534dup NM_001321947.2:c.52+30531_52+30534dup NM_001321947.2:c.52+30526_52+30534dup
FGF14 transcript variant 20 NM_001321948.2:c.91+30534= NM_001321948.2:c.91+30533_91+30534del NM_001321948.2:c.91+30534del NM_001321948.2:c.91+30534dup NM_001321948.2:c.91+30533_91+30534dup NM_001321948.2:c.91+30532_91+30534dup NM_001321948.2:c.91+30531_91+30534dup NM_001321948.2:c.91+30526_91+30534dup
FGF14 transcript variant 21 NM_001321949.1:c.-228-4324= NM_001321949.1:c.-228-4325_-228-4324del NM_001321949.1:c.-228-4324del NM_001321949.1:c.-228-4324dup NM_001321949.1:c.-228-4325_-228-4324dup NM_001321949.1:c.-228-4326_-228-4324dup NM_001321949.1:c.-228-4327_-228-4324dup NM_001321949.1:c.-228-4332_-228-4324dup
FGF14 transcript variant 22 NM_001379342.1:c.91+30534= NM_001379342.1:c.91+30533_91+30534del NM_001379342.1:c.91+30534del NM_001379342.1:c.91+30534dup NM_001379342.1:c.91+30533_91+30534dup NM_001379342.1:c.91+30532_91+30534dup NM_001379342.1:c.91+30531_91+30534dup NM_001379342.1:c.91+30526_91+30534dup
FGF14 transcript variant 2 NM_175929.2:c.208+30534= NM_175929.2:c.208+30533_208+30534del NM_175929.2:c.208+30534del NM_175929.2:c.208+30534dup NM_175929.2:c.208+30533_208+30534dup NM_175929.2:c.208+30532_208+30534dup NM_175929.2:c.208+30531_208+30534dup NM_175929.2:c.208+30526_208+30534dup
FGF14 transcript variant 2 NM_175929.3:c.208+30534= NM_175929.3:c.208+30533_208+30534del NM_175929.3:c.208+30534del NM_175929.3:c.208+30534dup NM_175929.3:c.208+30533_208+30534dup NM_175929.3:c.208+30532_208+30534dup NM_175929.3:c.208+30531_208+30534dup NM_175929.3:c.208+30526_208+30534dup
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#.

47 SubSNP, 25 Frequency submissions
No Submitter Submission ID Date (Build)
1 ABI ss40275775 Mar 13, 2006 (126)
2 GMI ss289200661 May 04, 2012 (138)
3 SSMP ss664155939 Apr 01, 2015 (144)
4 EVA_GENOME_DK ss1574699473 Apr 01, 2015 (144)
5 EVA_UK10K_ALSPAC ss1707930127 Apr 01, 2015 (144)
6 EVA_UK10K_TWINSUK ss1707930250 Apr 01, 2015 (144)
7 SWEGEN ss3011622079 Nov 08, 2017 (151)
8 MCHAISSO ss3063780517 Nov 08, 2017 (151)
9 EVA_DECODE ss3696021045 Jul 13, 2019 (153)
10 EVA_DECODE ss3696021046 Jul 13, 2019 (153)
11 EVA_DECODE ss3696021047 Jul 13, 2019 (153)
12 EVA_DECODE ss3696021048 Jul 13, 2019 (153)
13 EVA_DECODE ss3696021049 Jul 13, 2019 (153)
14 EVA_DECODE ss3696021050 Jul 13, 2019 (153)
15 ACPOP ss3740080254 Jul 13, 2019 (153)
16 ACPOP ss3740080255 Jul 13, 2019 (153)
17 PACBIO ss3787566595 Jul 13, 2019 (153)
18 EVA ss3833741846 Apr 27, 2020 (154)
19 EVA ss3840461064 Apr 27, 2020 (154)
20 EVA ss3845948820 Apr 27, 2020 (154)
21 KOGIC ss3974254721 Apr 27, 2020 (154)
22 KOGIC ss3974254722 Apr 27, 2020 (154)
23 KOGIC ss3974254723 Apr 27, 2020 (154)
24 KOGIC ss3974254724 Apr 27, 2020 (154)
25 GNOMAD ss4272351431 Apr 26, 2021 (155)
26 GNOMAD ss4272351432 Apr 26, 2021 (155)
27 GNOMAD ss4272351433 Apr 26, 2021 (155)
28 GNOMAD ss4272351434 Apr 26, 2021 (155)
29 GNOMAD ss4272351435 Apr 26, 2021 (155)
30 GNOMAD ss4272351436 Apr 26, 2021 (155)
31 TOMMO_GENOMICS ss5211654659 Apr 26, 2021 (155)
32 TOMMO_GENOMICS ss5211654660 Apr 26, 2021 (155)
33 TOMMO_GENOMICS ss5211654661 Apr 26, 2021 (155)
34 TOMMO_GENOMICS ss5211654662 Apr 26, 2021 (155)
35 1000G_HIGH_COVERAGE ss5295013891 Oct 16, 2022 (156)
36 1000G_HIGH_COVERAGE ss5295013892 Oct 16, 2022 (156)
37 1000G_HIGH_COVERAGE ss5295013893 Oct 16, 2022 (156)
38 1000G_HIGH_COVERAGE ss5295013894 Oct 16, 2022 (156)
39 HUGCELL_USP ss5489249392 Oct 16, 2022 (156)
40 HUGCELL_USP ss5489249393 Oct 16, 2022 (156)
41 HUGCELL_USP ss5489249394 Oct 16, 2022 (156)
42 TOMMO_GENOMICS ss5763985749 Oct 16, 2022 (156)
43 TOMMO_GENOMICS ss5763985750 Oct 16, 2022 (156)
44 TOMMO_GENOMICS ss5763985751 Oct 16, 2022 (156)
45 TOMMO_GENOMICS ss5763985752 Oct 16, 2022 (156)
46 TOMMO_GENOMICS ss5763985753 Oct 16, 2022 (156)
47 EVA ss5946962089 Oct 16, 2022 (156)
48 The Avon Longitudinal Study of Parents and Children NC_000013.10 - 103023287 Oct 12, 2018 (152)
49 The Danish reference pan genome NC_000013.10 - 103023287 Apr 27, 2020 (154)
50 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 441528521 (NC_000013.11:102370936::A 1360/119628)
Row 441528522 (NC_000013.11:102370936::AA 17791/119580)
Row 441528523 (NC_000013.11:102370936::AAA 133/119756)...

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

Submission ignored due to conflicting rows:
Row 441528521 (NC_000013.11:102370936::A 1360/119628)
Row 441528522 (NC_000013.11:102370936::AA 17791/119580)
Row 441528523 (NC_000013.11:102370936::AAA 133/119756)...

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

Submission ignored due to conflicting rows:
Row 441528521 (NC_000013.11:102370936::A 1360/119628)
Row 441528522 (NC_000013.11:102370936::AA 17791/119580)
Row 441528523 (NC_000013.11:102370936::AAA 133/119756)...

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

Submission ignored due to conflicting rows:
Row 441528521 (NC_000013.11:102370936::A 1360/119628)
Row 441528522 (NC_000013.11:102370936::AA 17791/119580)
Row 441528523 (NC_000013.11:102370936::AAA 133/119756)...

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

Submission ignored due to conflicting rows:
Row 441528521 (NC_000013.11:102370936::A 1360/119628)
Row 441528522 (NC_000013.11:102370936::AA 17791/119580)
Row 441528523 (NC_000013.11:102370936::AAA 133/119756)...

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

Submission ignored due to conflicting rows:
Row 441528521 (NC_000013.11:102370936::A 1360/119628)
Row 441528522 (NC_000013.11:102370936::AA 17791/119580)
Row 441528523 (NC_000013.11:102370936::AAA 133/119756)...

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

Submission ignored due to conflicting rows:
Row 30632722 (NC_000013.11:102370936:A: 78/1832)
Row 30632723 (NC_000013.11:102370937::AA 256/1832)
Row 30632724 (NC_000013.11:102370937::AAA 11/1832)...

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

Submission ignored due to conflicting rows:
Row 30632722 (NC_000013.11:102370936:A: 78/1832)
Row 30632723 (NC_000013.11:102370937::AA 256/1832)
Row 30632724 (NC_000013.11:102370937::AAA 11/1832)...

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

Submission ignored due to conflicting rows:
Row 30632722 (NC_000013.11:102370936:A: 78/1832)
Row 30632723 (NC_000013.11:102370937::AA 256/1832)
Row 30632724 (NC_000013.11:102370937::AAA 11/1832)...

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

Submission ignored due to conflicting rows:
Row 30632722 (NC_000013.11:102370936:A: 78/1832)
Row 30632723 (NC_000013.11:102370937::AA 256/1832)
Row 30632724 (NC_000013.11:102370937::AAA 11/1832)...

- Apr 27, 2020 (154)
60 Northern Sweden

Submission ignored due to conflicting rows:
Row 13365119 (NC_000013.10:103023286::AA 30/568)
Row 13365120 (NC_000013.10:103023286::A 5/568)

- Jul 13, 2019 (153)
61 Northern Sweden

Submission ignored due to conflicting rows:
Row 13365119 (NC_000013.10:103023286::AA 30/568)
Row 13365120 (NC_000013.10:103023286::A 5/568)

- Jul 13, 2019 (153)
62 8.3KJPN

Submission ignored due to conflicting rows:
Row 69623966 (NC_000013.10:103023286::AA 2342/16750)
Row 69623967 (NC_000013.10:103023286:A: 98/16750)
Row 69623968 (NC_000013.10:103023286::A 156/16750)...

- Apr 26, 2021 (155)
63 8.3KJPN

Submission ignored due to conflicting rows:
Row 69623966 (NC_000013.10:103023286::AA 2342/16750)
Row 69623967 (NC_000013.10:103023286:A: 98/16750)
Row 69623968 (NC_000013.10:103023286::A 156/16750)...

- Apr 26, 2021 (155)
64 8.3KJPN

Submission ignored due to conflicting rows:
Row 69623966 (NC_000013.10:103023286::AA 2342/16750)
Row 69623967 (NC_000013.10:103023286:A: 98/16750)
Row 69623968 (NC_000013.10:103023286::A 156/16750)...

- Apr 26, 2021 (155)
65 8.3KJPN

Submission ignored due to conflicting rows:
Row 69623966 (NC_000013.10:103023286::AA 2342/16750)
Row 69623967 (NC_000013.10:103023286:A: 98/16750)
Row 69623968 (NC_000013.10:103023286::A 156/16750)...

- Apr 26, 2021 (155)
66 14KJPN

Submission ignored due to conflicting rows:
Row 97822853 (NC_000013.11:102370936:A: 162/28258)
Row 97822854 (NC_000013.11:102370936::AA 4035/28258)
Row 97822855 (NC_000013.11:102370936::AAA 2/28258)...

- Oct 16, 2022 (156)
67 14KJPN

Submission ignored due to conflicting rows:
Row 97822853 (NC_000013.11:102370936:A: 162/28258)
Row 97822854 (NC_000013.11:102370936::AA 4035/28258)
Row 97822855 (NC_000013.11:102370936::AAA 2/28258)...

- Oct 16, 2022 (156)
68 14KJPN

Submission ignored due to conflicting rows:
Row 97822853 (NC_000013.11:102370936:A: 162/28258)
Row 97822854 (NC_000013.11:102370936::AA 4035/28258)
Row 97822855 (NC_000013.11:102370936::AAA 2/28258)...

- Oct 16, 2022 (156)
69 14KJPN

Submission ignored due to conflicting rows:
Row 97822853 (NC_000013.11:102370936:A: 162/28258)
Row 97822854 (NC_000013.11:102370936::AA 4035/28258)
Row 97822855 (NC_000013.11:102370936::AAA 2/28258)...

- Oct 16, 2022 (156)
70 14KJPN

Submission ignored due to conflicting rows:
Row 97822853 (NC_000013.11:102370936:A: 162/28258)
Row 97822854 (NC_000013.11:102370936::AA 4035/28258)
Row 97822855 (NC_000013.11:102370936::AAA 2/28258)...

- Oct 16, 2022 (156)
71 UK 10K study - Twins NC_000013.10 - 103023287 Oct 12, 2018 (152)
72 ALFA NC_000013.11 - 102370937 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)
rs202220035 May 15, 2013 (138)
rs369182864 May 15, 2013 (138)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss3696021050, ss4272351436, ss5763985753 NC_000013.11:102370936:AA: NC_000013.11:102370936:AAAAAAAAAAA…

NC_000013.11:102370936:AAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
2488849225 NC_000013.11:102370936:AAAAAAAAAAA…

NC_000013.11:102370936:AAAAAAAAAAAAAA:AAAAAAAAAAAA

NC_000013.11:102370936:AAAAAAAAAAA…

NC_000013.11:102370936:AAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss3787566595, ss5211654660 NC_000013.10:103023286:A: NC_000013.11:102370936:AAAAAAAAAAA…

NC_000013.11:102370936:AAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss3974254721, ss4272351435, ss5295013893, ss5489249394, ss5763985749 NC_000013.11:102370936:A: NC_000013.11:102370936:AAAAAAAAAAA…

NC_000013.11:102370936:AAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
2488849225 NC_000013.11:102370936:AAAAAAAAAAA…

NC_000013.11:102370936:AAAAAAAAAAAAAA:AAAAAAAAAAAAA

NC_000013.11:102370936:AAAAAAAAAAA…

NC_000013.11:102370936:AAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss3696021049 NC_000013.11:102370937:A: NC_000013.11:102370936:AAAAAAAAAAA…

NC_000013.11:102370936:AAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss3740080255, ss5211654661 NC_000013.10:103023286::A NC_000013.11:102370936:AAAAAAAAAAA…

NC_000013.11:102370936:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss4272351431, ss5295013892, ss5489249393, ss5763985752 NC_000013.11:102370936::A NC_000013.11:102370936:AAAAAAAAAAA…

NC_000013.11:102370936:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
2488849225 NC_000013.11:102370936:AAAAAAAAAAA…

NC_000013.11:102370936:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000013.11:102370936:AAAAAAAAAAA…

NC_000013.11:102370936:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3974254724 NC_000013.11:102370937::A NC_000013.11:102370936:AAAAAAAAAAA…

NC_000013.11:102370936:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3696021048 NC_000013.11:102370938::A NC_000013.11:102370936:AAAAAAAAAAA…

NC_000013.11:102370936:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss289200661 NC_000013.9:101821301::AA NC_000013.11:102370936:AAAAAAAAAAA…

NC_000013.11:102370936:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
34790449, 429622, 34790449, ss664155939, ss1574699473, ss1707930127, ss1707930250, ss3011622079, ss3740080254, ss3833741846, ss3840461064, ss5211654659, ss5946962089 NC_000013.10:103023286::AA NC_000013.11:102370936:AAAAAAAAAAA…

NC_000013.11:102370936:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3063780517, ss3845948820, ss4272351432, ss5295013891, ss5489249392, ss5763985750 NC_000013.11:102370936::AA NC_000013.11:102370936:AAAAAAAAAAA…

NC_000013.11:102370936:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
2488849225 NC_000013.11:102370936:AAAAAAAAAAA…

NC_000013.11:102370936:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000013.11:102370936:AAAAAAAAAAA…

NC_000013.11:102370936:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3974254722 NC_000013.11:102370937::AA NC_000013.11:102370936:AAAAAAAAAAA…

NC_000013.11:102370936:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3696021047 NC_000013.11:102370938::AA NC_000013.11:102370936:AAAAAAAAAAA…

NC_000013.11:102370936:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss40275775 NT_009952.14:16112962::AA NC_000013.11:102370936:AAAAAAAAAAA…

NC_000013.11:102370936:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss5211654662 NC_000013.10:103023286::AAA NC_000013.11:102370936:AAAAAAAAAAA…

NC_000013.11:102370936:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss4272351433, ss5295013894, ss5763985751 NC_000013.11:102370936::AAA NC_000013.11:102370936:AAAAAAAAAAA…

NC_000013.11:102370936:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
2488849225 NC_000013.11:102370936:AAAAAAAAAAA…

NC_000013.11:102370936:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

NC_000013.11:102370936:AAAAAAAAAAA…

NC_000013.11:102370936:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3974254723 NC_000013.11:102370937::AAA NC_000013.11:102370936:AAAAAAAAAAA…

NC_000013.11:102370936:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss3696021046 NC_000013.11:102370938::AAA NC_000013.11:102370936:AAAAAAAAAAA…

NC_000013.11:102370936:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA

(self)
ss4272351434 NC_000013.11:102370936::AAAA NC_000013.11:102370936:AAAAAAAAAAA…

NC_000013.11:102370936:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
2488849225 NC_000013.11:102370936:AAAAAAAAAAA…

NC_000013.11:102370936:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000013.11:102370936:AAAAAAAAAAA…

NC_000013.11:102370936:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3696021045 NC_000013.11:102370938::AAAAAAAAA NC_000013.11:102370936:AAAAAAAAAAA…

NC_000013.11:102370936:AAAAAAAAAAAAAA: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 rs34438270

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