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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.

rs34988728

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr4:88203755-88203771 (GRCh38.p14) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
del(A)8 / del(A)6 / del(A)5 / del(…

del(A)8 / del(A)6 / del(A)5 / del(A)4 / delAAA / delAA / delA / dupA

Variation Type
Indel Insertion and Deletion
Frequency
delA=0.2282 (1143/5008, 1000G)
del(A)8=0.0 (0/2, ALFA)
del(A)6=0.0 (0/2, ALFA) (+ 6 more)
del(A)5=0.0 (0/2, ALFA)
del(A)4=0.0 (0/2, ALFA)
delAAA=0.0 (0/2, ALFA)
delAA=0.0 (0/2, ALFA)
delA=0.0 (0/2, ALFA)
dupA=0.0 (0/2, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ABCG2 : 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 2 AAAAAAAAAAAAAAAAA=1.0 AAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
European Sub 0 AAAAAAAAAAAAAAAAA=0 AAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
African Sub 2 AAAAAAAAAAAAAAAAA=1.0 AAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
African Others Sub 0 AAAAAAAAAAAAAAAAA=0 AAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
African American Sub 2 AAAAAAAAAAAAAAAAA=1.0 AAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Asian Sub 0 AAAAAAAAAAAAAAAAA=0 AAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
East Asian Sub 0 AAAAAAAAAAAAAAAAA=0 AAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Other Asian Sub 0 AAAAAAAAAAAAAAAAA=0 AAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Latin American 1 Sub 0 AAAAAAAAAAAAAAAAA=0 AAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Latin American 2 Sub 0 AAAAAAAAAAAAAAAAA=0 AAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
South Asian Sub 0 AAAAAAAAAAAAAAAAA=0 AAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Other Sub 0 AAAAAAAAAAAAAAAAA=0 AAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=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
1000Genomes Global Study-wide 5008 (A)17=0.7718 delA=0.2282
1000Genomes African Sub 1322 (A)17=0.6823 delA=0.3177
1000Genomes East Asian Sub 1008 (A)17=0.8294 delA=0.1706
1000Genomes Europe Sub 1006 (A)17=0.7952 delA=0.2048
1000Genomes South Asian Sub 978 (A)17=0.786 delA=0.214
1000Genomes American Sub 694 (A)17=0.804 delA=0.196
Allele Frequency Aggregator Total Global 2 (A)17=1.0 del(A)8=0.0, del(A)6=0.0, del(A)5=0.0, del(A)4=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0
Allele Frequency Aggregator African Sub 2 (A)17=1.0 del(A)8=0.0, del(A)6=0.0, del(A)5=0.0, del(A)4=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0
Allele Frequency Aggregator European Sub 0 (A)17=0 del(A)8=0, del(A)6=0, del(A)5=0, del(A)4=0, delAAA=0, delAA=0, delA=0, dupA=0
Allele Frequency Aggregator Latin American 1 Sub 0 (A)17=0 del(A)8=0, del(A)6=0, del(A)5=0, del(A)4=0, delAAA=0, delAA=0, delA=0, dupA=0
Allele Frequency Aggregator Latin American 2 Sub 0 (A)17=0 del(A)8=0, del(A)6=0, del(A)5=0, del(A)4=0, delAAA=0, delAA=0, delA=0, dupA=0
Allele Frequency Aggregator South Asian Sub 0 (A)17=0 del(A)8=0, del(A)6=0, del(A)5=0, del(A)4=0, delAAA=0, delAA=0, delA=0, dupA=0
Allele Frequency Aggregator Other Sub 0 (A)17=0 del(A)8=0, del(A)6=0, del(A)5=0, del(A)4=0, delAAA=0, delAA=0, delA=0, dupA=0
Allele Frequency Aggregator Asian Sub 0 (A)17=0 del(A)8=0, del(A)6=0, del(A)5=0, del(A)4=0, delAAA=0, delAA=0, delA=0, dupA=0
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p14 chr 4 NC_000004.12:g.88203764_88203771del
GRCh38.p14 chr 4 NC_000004.12:g.88203766_88203771del
GRCh38.p14 chr 4 NC_000004.12:g.88203767_88203771del
GRCh38.p14 chr 4 NC_000004.12:g.88203768_88203771del
GRCh38.p14 chr 4 NC_000004.12:g.88203769_88203771del
GRCh38.p14 chr 4 NC_000004.12:g.88203770_88203771del
GRCh38.p14 chr 4 NC_000004.12:g.88203771del
GRCh38.p14 chr 4 NC_000004.12:g.88203771dup
GRCh37.p13 chr 4 NC_000004.11:g.89124916_89124923del
GRCh37.p13 chr 4 NC_000004.11:g.89124918_89124923del
GRCh37.p13 chr 4 NC_000004.11:g.89124919_89124923del
GRCh37.p13 chr 4 NC_000004.11:g.89124920_89124923del
GRCh37.p13 chr 4 NC_000004.11:g.89124921_89124923del
GRCh37.p13 chr 4 NC_000004.11:g.89124922_89124923del
GRCh37.p13 chr 4 NC_000004.11:g.89124923del
GRCh37.p13 chr 4 NC_000004.11:g.89124923dup
JR blood group RefSeqGene (LRG_823) NG_032067.2:g.32561_32568del
JR blood group RefSeqGene (LRG_823) NG_032067.2:g.32563_32568del
JR blood group RefSeqGene (LRG_823) NG_032067.2:g.32564_32568del
JR blood group RefSeqGene (LRG_823) NG_032067.2:g.32565_32568del
JR blood group RefSeqGene (LRG_823) NG_032067.2:g.32566_32568del
JR blood group RefSeqGene (LRG_823) NG_032067.2:g.32567_32568del
JR blood group RefSeqGene (LRG_823) NG_032067.2:g.32568del
JR blood group RefSeqGene (LRG_823) NG_032067.2:g.32568dup
Gene: ABCG2, ATP binding cassette subfamily G member 2 (Junior blood group) (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ABCG2 transcript variant 2 NM_001257386.2:c.-20+2723…

NM_001257386.2:c.-20+27232_-20+27239del

N/A Intron Variant
ABCG2 transcript variant 3 NM_001348985.1:c.-20+7904…

NM_001348985.1:c.-20+7904_-20+7911del

N/A Intron Variant
ABCG2 transcript variant 4 NM_001348986.1:c. N/A Genic Upstream Transcript Variant
ABCG2 transcript variant 5 NM_001348987.1:c. N/A Genic Upstream Transcript Variant
ABCG2 transcript variant 6 NM_001348988.1:c. N/A Genic Upstream Transcript Variant
ABCG2 transcript variant 7 NM_001348989.2:c. N/A Genic Upstream Transcript Variant
ABCG2 transcript variant 1 NM_004827.3:c. N/A Genic Upstream Transcript Variant
ABCG2 transcript variant X1 XM_011532420.4:c.-20+6687…

XM_011532420.4:c.-20+6687_-20+6694del

N/A Intron Variant
ABCG2 transcript variant X2 XM_017008852.3:c. N/A Genic Upstream Transcript Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement (A)17= del(A)8 del(A)6 del(A)5 del(A)4 delAAA delAA delA dupA
GRCh38.p14 chr 4 NC_000004.12:g.88203755_88203771= NC_000004.12:g.88203764_88203771del NC_000004.12:g.88203766_88203771del NC_000004.12:g.88203767_88203771del NC_000004.12:g.88203768_88203771del NC_000004.12:g.88203769_88203771del NC_000004.12:g.88203770_88203771del NC_000004.12:g.88203771del NC_000004.12:g.88203771dup
GRCh37.p13 chr 4 NC_000004.11:g.89124907_89124923= NC_000004.11:g.89124916_89124923del NC_000004.11:g.89124918_89124923del NC_000004.11:g.89124919_89124923del NC_000004.11:g.89124920_89124923del NC_000004.11:g.89124921_89124923del NC_000004.11:g.89124922_89124923del NC_000004.11:g.89124923del NC_000004.11:g.89124923dup
JR blood group RefSeqGene (LRG_823) NG_032067.2:g.32552_32568= NG_032067.2:g.32561_32568del NG_032067.2:g.32563_32568del NG_032067.2:g.32564_32568del NG_032067.2:g.32565_32568del NG_032067.2:g.32566_32568del NG_032067.2:g.32567_32568del NG_032067.2:g.32568del NG_032067.2:g.32568dup
ABCG2 transcript variant 2 NM_001257386.1:c.-20+27239= NM_001257386.1:c.-20+27232_-20+27239del NM_001257386.1:c.-20+27234_-20+27239del NM_001257386.1:c.-20+27235_-20+27239del NM_001257386.1:c.-20+27236_-20+27239del NM_001257386.1:c.-20+27237_-20+27239del NM_001257386.1:c.-20+27238_-20+27239del NM_001257386.1:c.-20+27239del NM_001257386.1:c.-20+27239dup
ABCG2 transcript variant 2 NM_001257386.2:c.-20+27239= NM_001257386.2:c.-20+27232_-20+27239del NM_001257386.2:c.-20+27234_-20+27239del NM_001257386.2:c.-20+27235_-20+27239del NM_001257386.2:c.-20+27236_-20+27239del NM_001257386.2:c.-20+27237_-20+27239del NM_001257386.2:c.-20+27238_-20+27239del NM_001257386.2:c.-20+27239del NM_001257386.2:c.-20+27239dup
ABCG2 transcript variant 3 NM_001348985.1:c.-20+7911= NM_001348985.1:c.-20+7904_-20+7911del NM_001348985.1:c.-20+7906_-20+7911del NM_001348985.1:c.-20+7907_-20+7911del NM_001348985.1:c.-20+7908_-20+7911del NM_001348985.1:c.-20+7909_-20+7911del NM_001348985.1:c.-20+7910_-20+7911del NM_001348985.1:c.-20+7911del NM_001348985.1:c.-20+7911dup
ABCG2 transcript variant X2 XM_005263355.1:c.-20+27239= XM_005263355.1:c.-20+27232_-20+27239del XM_005263355.1:c.-20+27234_-20+27239del XM_005263355.1:c.-20+27235_-20+27239del XM_005263355.1:c.-20+27236_-20+27239del XM_005263355.1:c.-20+27237_-20+27239del XM_005263355.1:c.-20+27238_-20+27239del XM_005263355.1:c.-20+27239del XM_005263355.1:c.-20+27239dup
ABCG2 transcript variant X1 XM_011532420.4:c.-20+6694= XM_011532420.4:c.-20+6687_-20+6694del XM_011532420.4:c.-20+6689_-20+6694del XM_011532420.4:c.-20+6690_-20+6694del XM_011532420.4:c.-20+6691_-20+6694del XM_011532420.4:c.-20+6692_-20+6694del XM_011532420.4:c.-20+6693_-20+6694del XM_011532420.4:c.-20+6694del XM_011532420.4:c.-20+6694dup
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#.

55 SubSNP, 20 Frequency submissions
No Submitter Submission ID Date (Build)
1 ABI ss42335384 Mar 15, 2016 (147)
2 HGSV ss77858195 Aug 21, 2014 (142)
3 HGSV ss77918684 Aug 21, 2014 (142)
4 HGSV ss79741236 Dec 15, 2007 (130)
5 HGSV ss79849218 Dec 15, 2007 (130)
6 HGSV ss80288927 Dec 15, 2007 (144)
7 HGSV ss80795073 Dec 15, 2007 (130)
8 HGSV ss82047629 Dec 15, 2007 (144)
9 HGSV ss82074488 Dec 15, 2007 (130)
10 HGSV ss83186177 Dec 15, 2007 (144)
11 HUMANGENOME_JCVI ss95361881 Feb 05, 2009 (144)
12 BL ss256022843 May 09, 2011 (137)
13 GMI ss288553348 May 04, 2012 (137)
14 PJP ss295176495 Aug 21, 2014 (142)
15 PJP ss295176496 May 09, 2011 (134)
16 PJP ss295176497 May 09, 2011 (137)
17 BILGI_BIOE ss666268046 Apr 25, 2013 (138)
18 1000GENOMES ss1372445126 Aug 21, 2014 (142)
19 EVA_UK10K_ALSPAC ss1704248703 Apr 01, 2015 (144)
20 EVA_UK10K_TWINSUK ss1704249196 Apr 01, 2015 (144)
21 EVA_UK10K_TWINSUK ss1710157420 Apr 01, 2015 (144)
22 EVA_UK10K_ALSPAC ss1710157454 Apr 01, 2015 (144)
23 SYSTEMSBIOZJU ss2625696763 Nov 08, 2017 (151)
24 SWEGEN ss2995082712 Nov 08, 2017 (151)
25 MCHAISSO ss3064979451 Nov 08, 2017 (151)
26 URBANLAB ss3647786197 Oct 12, 2018 (152)
27 EVA_DECODE ss3712505175 Jul 13, 2019 (153)
28 EVA_DECODE ss3712505176 Jul 13, 2019 (153)
29 EVA_DECODE ss3712505177 Jul 13, 2019 (153)
30 EVA_DECODE ss3712505178 Jul 13, 2019 (153)
31 ACPOP ss3731354276 Jul 13, 2019 (153)
32 ACPOP ss3731354277 Jul 13, 2019 (153)
33 PACBIO ss3784782885 Jul 13, 2019 (153)
34 PACBIO ss3790230805 Jul 13, 2019 (153)
35 PACBIO ss3795106182 Jul 13, 2019 (153)
36 KHV_HUMAN_GENOMES ss3805223819 Jul 13, 2019 (153)
37 EVA ss3828664583 Apr 26, 2020 (154)
38 GNOMAD ss4115348018 Apr 26, 2021 (155)
39 GNOMAD ss4115348019 Apr 26, 2021 (155)
40 GNOMAD ss4115348020 Apr 26, 2021 (155)
41 GNOMAD ss4115348021 Apr 26, 2021 (155)
42 GNOMAD ss4115348022 Apr 26, 2021 (155)
43 GNOMAD ss4115348023 Apr 26, 2021 (155)
44 TOMMO_GENOMICS ss5166740544 Apr 26, 2021 (155)
45 TOMMO_GENOMICS ss5166740545 Apr 26, 2021 (155)
46 TOMMO_GENOMICS ss5166740546 Apr 26, 2021 (155)
47 1000G_HIGH_COVERAGE ss5260016445 Oct 13, 2022 (156)
48 HUGCELL_USP ss5458687931 Oct 13, 2022 (156)
49 HUGCELL_USP ss5458687932 Oct 13, 2022 (156)
50 TOMMO_GENOMICS ss5701375508 Oct 13, 2022 (156)
51 TOMMO_GENOMICS ss5701375509 Oct 13, 2022 (156)
52 TOMMO_GENOMICS ss5701375510 Oct 13, 2022 (156)
53 EVA ss5844315492 Oct 13, 2022 (156)
54 EVA ss5844315493 Oct 13, 2022 (156)
55 EVA ss5864369223 Oct 13, 2022 (156)
56 1000Genomes NC_000004.11 - 89124907 Oct 12, 2018 (152)
57 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 12291973 (NC_000004.11:89124906:AAA: 259/3854)
Row 12291974 (NC_000004.11:89124907:A: 3595/3854)

- Oct 12, 2018 (152)
58 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 12291973 (NC_000004.11:89124906:AAA: 259/3854)
Row 12291974 (NC_000004.11:89124907:A: 3595/3854)

- Oct 12, 2018 (152)
59 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 156530709 (NC_000004.12:88203754::A 4/120766)
Row 156530710 (NC_000004.12:88203754:A: 49185/120340)
Row 156530711 (NC_000004.12:88203754:AA: 68409/120946)...

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

Submission ignored due to conflicting rows:
Row 156530709 (NC_000004.12:88203754::A 4/120766)
Row 156530710 (NC_000004.12:88203754:A: 49185/120340)
Row 156530711 (NC_000004.12:88203754:AA: 68409/120946)...

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

Submission ignored due to conflicting rows:
Row 156530709 (NC_000004.12:88203754::A 4/120766)
Row 156530710 (NC_000004.12:88203754:A: 49185/120340)
Row 156530711 (NC_000004.12:88203754:AA: 68409/120946)...

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

Submission ignored due to conflicting rows:
Row 156530709 (NC_000004.12:88203754::A 4/120766)
Row 156530710 (NC_000004.12:88203754:A: 49185/120340)
Row 156530711 (NC_000004.12:88203754:AA: 68409/120946)...

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

Submission ignored due to conflicting rows:
Row 156530709 (NC_000004.12:88203754::A 4/120766)
Row 156530710 (NC_000004.12:88203754:A: 49185/120340)
Row 156530711 (NC_000004.12:88203754:AA: 68409/120946)...

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

Submission ignored due to conflicting rows:
Row 156530709 (NC_000004.12:88203754::A 4/120766)
Row 156530710 (NC_000004.12:88203754:A: 49185/120340)
Row 156530711 (NC_000004.12:88203754:AA: 68409/120946)...

- Apr 26, 2021 (155)
65 Northern Sweden

Submission ignored due to conflicting rows:
Row 4639141 (NC_000004.11:89124906:AA: 322/546)
Row 4639142 (NC_000004.11:89124906:A: 157/546)

- Jul 13, 2019 (153)
66 Northern Sweden

Submission ignored due to conflicting rows:
Row 4639141 (NC_000004.11:89124906:AA: 322/546)
Row 4639142 (NC_000004.11:89124906:A: 157/546)

- Jul 13, 2019 (153)
67 8.3KJPN

Submission ignored due to conflicting rows:
Row 24709851 (NC_000004.11:89124906:AA: 11501/16740)
Row 24709852 (NC_000004.11:89124906:A: 4917/16740)
Row 24709853 (NC_000004.11:89124906:AAA: 110/16740)

- Apr 26, 2021 (155)
68 8.3KJPN

Submission ignored due to conflicting rows:
Row 24709851 (NC_000004.11:89124906:AA: 11501/16740)
Row 24709852 (NC_000004.11:89124906:A: 4917/16740)
Row 24709853 (NC_000004.11:89124906:AAA: 110/16740)

- Apr 26, 2021 (155)
69 8.3KJPN

Submission ignored due to conflicting rows:
Row 24709851 (NC_000004.11:89124906:AA: 11501/16740)
Row 24709852 (NC_000004.11:89124906:A: 4917/16740)
Row 24709853 (NC_000004.11:89124906:AAA: 110/16740)

- Apr 26, 2021 (155)
70 14KJPN

Submission ignored due to conflicting rows:
Row 35212612 (NC_000004.12:88203754:AA: 19473/28250)
Row 35212613 (NC_000004.12:88203754:A: 8363/28250)
Row 35212614 (NC_000004.12:88203754:AAA: 189/28250)

- Oct 13, 2022 (156)
71 14KJPN

Submission ignored due to conflicting rows:
Row 35212612 (NC_000004.12:88203754:AA: 19473/28250)
Row 35212613 (NC_000004.12:88203754:A: 8363/28250)
Row 35212614 (NC_000004.12:88203754:AAA: 189/28250)

- Oct 13, 2022 (156)
72 14KJPN

Submission ignored due to conflicting rows:
Row 35212612 (NC_000004.12:88203754:AA: 19473/28250)
Row 35212613 (NC_000004.12:88203754:A: 8363/28250)
Row 35212614 (NC_000004.12:88203754:AAA: 189/28250)

- Oct 13, 2022 (156)
73 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 12291973 (NC_000004.11:89124906:AAA: 256/3708)
Row 12291974 (NC_000004.11:89124907:A: 3452/3708)

- Oct 12, 2018 (152)
74 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 12291973 (NC_000004.11:89124906:AAA: 256/3708)
Row 12291974 (NC_000004.11:89124907:A: 3452/3708)

- Oct 12, 2018 (152)
75 ALFA NC_000004.12 - 88203755 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)
rs201405173 May 11, 2012 (137)
rs61041560 May 26, 2008 (130)
rs56189370 Jul 01, 2015 (144)
rs58570753 May 24, 2008 (130)
rs72236551 Jul 30, 2012 (137)
rs72407863 May 11, 2012 (137)
rs72411484 May 11, 2012 (137)
rs138508687 May 11, 2012 (137)
rs143310216 May 04, 2012 (137)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4115348023 NC_000004.12:88203754:AAAAAAAA: NC_000004.12:88203754:AAAAAAAAAAAA…

NC_000004.12:88203754:AAAAAAAAAAAAAAAAA:AAAAAAAAA

(self)
3892478084 NC_000004.12:88203754:AAAAAAAAAAAA…

NC_000004.12:88203754:AAAAAAAAAAAAAAAAA:AAAAAAAAA

NC_000004.12:88203754:AAAAAAAAAAAA…

NC_000004.12:88203754:AAAAAAAAAAAAAAAAA:AAAAAAAAA

(self)
3892478084 NC_000004.12:88203754:AAAAAAAAAAAA…

NC_000004.12:88203754:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA

NC_000004.12:88203754:AAAAAAAAAAAA…

NC_000004.12:88203754:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
3892478084 NC_000004.12:88203754:AAAAAAAAAAAA…

NC_000004.12:88203754:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

NC_000004.12:88203754:AAAAAAAAAAAA…

NC_000004.12:88203754:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss3712505178, ss4115348022 NC_000004.12:88203754:AAAA: NC_000004.12:88203754:AAAAAAAAAAAA…

NC_000004.12:88203754:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
3892478084 NC_000004.12:88203754:AAAAAAAAAAAA…

NC_000004.12:88203754:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

NC_000004.12:88203754:AAAAAAAAAAAA…

NC_000004.12:88203754:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss1704248703, ss1704249196, ss5166740546, ss5844315493 NC_000004.11:89124906:AAA: NC_000004.12:88203754:AAAAAAAAAAAA…

NC_000004.12:88203754:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss4115348021, ss5260016445, ss5701375510 NC_000004.12:88203754:AAA: NC_000004.12:88203754:AAAAAAAAAAAA…

NC_000004.12:88203754:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
3892478084 NC_000004.12:88203754:AAAAAAAAAAAA…

NC_000004.12:88203754:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000004.12:88203754:AAAAAAAAAAAA…

NC_000004.12:88203754:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss3712505177 NC_000004.12:88203755:AAA: NC_000004.12:88203754:AAAAAAAAAAAA…

NC_000004.12:88203754:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss77858195, ss77918684, ss79741236, ss79849218, ss80795073, ss82074488 NC_000004.9:89482100:AA: NC_000004.12:88203754:AAAAAAAAAAAA…

NC_000004.12:88203754:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss288553348, ss295176495 NC_000004.10:89343930:AA: NC_000004.12:88203754:AAAAAAAAAAAA…

NC_000004.12:88203754:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss295176496 NC_000004.10:89343945:AA: NC_000004.12:88203754:AAAAAAAAAAAA…

NC_000004.12:88203754:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss666268046, ss2995082712, ss3731354276, ss5166740544, ss5844315492 NC_000004.11:89124906:AA: NC_000004.12:88203754:AAAAAAAAAAAA…

NC_000004.12:88203754:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss1710157420, ss1710157454 NC_000004.11:89124907:AA: NC_000004.12:88203754:AAAAAAAAAAAA…

NC_000004.12:88203754:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3064979451, ss4115348020, ss5458687931, ss5701375508, ss5864369223 NC_000004.12:88203754:AA: NC_000004.12:88203754:AAAAAAAAAAAA…

NC_000004.12:88203754:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
3892478084 NC_000004.12:88203754:AAAAAAAAAAAA…

NC_000004.12:88203754:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000004.12:88203754:AAAAAAAAAAAA…

NC_000004.12:88203754:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3712505176 NC_000004.12:88203756:AA: NC_000004.12:88203754:AAAAAAAAAAAA…

NC_000004.12:88203754:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss42335384 NT_016354.19:13672642:AA: NC_000004.12:88203754:AAAAAAAAAAAA…

NC_000004.12:88203754:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss80288927, ss82047629, ss83186177 NC_000004.9:89482101:A: NC_000004.12:88203754:AAAAAAAAAAAA…

NC_000004.12:88203754:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss256022843 NC_000004.10:89343930:A: NC_000004.12:88203754:AAAAAAAAAAAA…

NC_000004.12:88203754:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss295176497 NC_000004.10:89343946:A: NC_000004.12:88203754:AAAAAAAAAAAA…

NC_000004.12:88203754:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
22099854, ss1372445126, ss3731354277, ss3784782885, ss3790230805, ss3795106182, ss3828664583, ss5166740545 NC_000004.11:89124906:A: NC_000004.12:88203754:AAAAAAAAAAAA…

NC_000004.12:88203754:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss2625696763 NC_000004.11:89124907:A: NC_000004.12:88203754:AAAAAAAAAAAA…

NC_000004.12:88203754:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3647786197, ss3805223819, ss4115348019, ss5458687932, ss5701375509 NC_000004.12:88203754:A: NC_000004.12:88203754:AAAAAAAAAAAA…

NC_000004.12:88203754:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
3892478084 NC_000004.12:88203754:AAAAAAAAAAAA…

NC_000004.12:88203754:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000004.12:88203754:AAAAAAAAAAAA…

NC_000004.12:88203754:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3712505175 NC_000004.12:88203757:A: NC_000004.12:88203754:AAAAAAAAAAAA…

NC_000004.12:88203754:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss42335384 NT_016354.19:13672642:AA:A NC_000004.12:88203754:AAAAAAAAAAAA…

NC_000004.12:88203754:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss95361881 NT_016354.19:13672643:A: NC_000004.12:88203754:AAAAAAAAAAAA…

NC_000004.12:88203754:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss4115348018 NC_000004.12:88203754::A NC_000004.12:88203754:AAAAAAAAAAAA…

NC_000004.12:88203754:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
3892478084 NC_000004.12:88203754:AAAAAAAAAAAA…

NC_000004.12:88203754:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000004.12:88203754:AAAAAAAAAAAA…

NC_000004.12:88203754:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(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 rs34988728

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