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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.

rs10579529

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr5:131772421-131772437 (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)7 / del(A)6 / del(A)5 / del(…

del(A)7 / del(A)6 / del(A)5 / del(A)4 / delAAA / delAA / delA / dupA / dupAA

Variation Type
Indel Insertion and Deletion
Frequency
(A)17=0.3346 (1630/4872, ALFA)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
FNIP1 : 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 4872 AAAAAAAAAAAAAAAAA=0.3346 AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0090, AAAAAAAAAAAAAA=0.6037, AAAAAAAAAAAAAAA=0.0390, AAAAAAAAAAAAAAAA=0.0133, AAAAAAAAAAAAAAAAAA=0.0004, AAAAAAAAAAAAAAAAAAA=0.0000 0.169995 0.451928 0.378077 36
European Sub 4706 AAAAAAAAAAAAAAAAA=0.3119 AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0093, AAAAAAAAAAAAAA=0.6241, AAAAAAAAAAAAAAA=0.0404, AAAAAAAAAAAAAAAA=0.0138, AAAAAAAAAAAAAAAAAA=0.0004, AAAAAAAAAAAAAAAAAAA=0.0000 0.138164 0.469565 0.392271 16
African Sub 62 AAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
African Others Sub 4 AAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
African American Sub 58 AAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Asian Sub 16 AAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
East Asian Sub 14 AAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
Other Asian Sub 2 AAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Latin American 1 Sub 0 AAAAAAAAAAAAAAAAA=0 AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0 0 0 0 N/A
Latin American 2 Sub 50 AAAAAAAAAAAAAAAAA=1.00 AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00 1.0 0.0 0.0 N/A
South Asian Sub 2 AAAAAAAAAAAAAAAAA=1.0 AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0 1.0 0.0 0.0 N/A
Other Sub 36 AAAAAAAAAAAAAAAAA=0.89 AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.11, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00 0.833333 0.055556 0.111111 2


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 4872 (A)17=0.3346 del(A)7=0.0000, del(A)6=0.0000, del(A)5=0.0000, del(A)4=0.0090, delAAA=0.6037, delAA=0.0390, delA=0.0133, dupA=0.0004, dupAA=0.0000
Allele Frequency Aggregator European Sub 4706 (A)17=0.3119 del(A)7=0.0000, del(A)6=0.0000, del(A)5=0.0000, del(A)4=0.0093, delAAA=0.6241, delAA=0.0404, delA=0.0138, dupA=0.0004, dupAA=0.0000
Allele Frequency Aggregator African Sub 62 (A)17=1.00 del(A)7=0.00, del(A)6=0.00, 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
Allele Frequency Aggregator Latin American 2 Sub 50 (A)17=1.00 del(A)7=0.00, del(A)6=0.00, 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
Allele Frequency Aggregator Other Sub 36 (A)17=0.89 del(A)7=0.00, del(A)6=0.00, del(A)5=0.00, del(A)4=0.00, delAAA=0.11, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00
Allele Frequency Aggregator Asian Sub 16 (A)17=1.00 del(A)7=0.00, del(A)6=0.00, 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
Allele Frequency Aggregator South Asian Sub 2 (A)17=1.0 del(A)7=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, dupAA=0.0
Allele Frequency Aggregator Latin American 1 Sub 0 (A)17=0 del(A)7=0, del(A)6=0, del(A)5=0, del(A)4=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0
Help

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

Genomic Placements
Sequence name Change
GRCh38.p14 chr 5 NC_000005.10:g.131772431_131772437del
GRCh38.p14 chr 5 NC_000005.10:g.131772432_131772437del
GRCh38.p14 chr 5 NC_000005.10:g.131772433_131772437del
GRCh38.p14 chr 5 NC_000005.10:g.131772434_131772437del
GRCh38.p14 chr 5 NC_000005.10:g.131772435_131772437del
GRCh38.p14 chr 5 NC_000005.10:g.131772436_131772437del
GRCh38.p14 chr 5 NC_000005.10:g.131772437del
GRCh38.p14 chr 5 NC_000005.10:g.131772437dup
GRCh38.p14 chr 5 NC_000005.10:g.131772436_131772437dup
GRCh37.p13 chr 5 NC_000005.9:g.131108124_131108130del
GRCh37.p13 chr 5 NC_000005.9:g.131108125_131108130del
GRCh37.p13 chr 5 NC_000005.9:g.131108126_131108130del
GRCh37.p13 chr 5 NC_000005.9:g.131108127_131108130del
GRCh37.p13 chr 5 NC_000005.9:g.131108128_131108130del
GRCh37.p13 chr 5 NC_000005.9:g.131108129_131108130del
GRCh37.p13 chr 5 NC_000005.9:g.131108130del
GRCh37.p13 chr 5 NC_000005.9:g.131108130dup
GRCh37.p13 chr 5 NC_000005.9:g.131108129_131108130dup
Gene: FNIP1, folliculin interacting protein 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
FNIP1 transcript variant 2 NM_001008738.3:c.92+24403…

NM_001008738.3:c.92+24403_92+24409del

N/A Intron Variant
FNIP1 transcript variant 3 NM_001346113.2:c.92+24403…

NM_001346113.2:c.92+24403_92+24409del

N/A Intron Variant
FNIP1 transcript variant 4 NM_001346114.2:c.92+24403…

NM_001346114.2:c.92+24403_92+24409del

N/A Intron Variant
FNIP1 transcript variant 1 NM_133372.3:c.92+24403_92…

NM_133372.3:c.92+24403_92+24409del

N/A Intron Variant
Help

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

Not Reported in ClinVar
Help

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

Placement (A)17= del(A)7 del(A)6 del(A)5 del(A)4 delAAA delAA delA dupA dupAA
GRCh38.p14 chr 5 NC_000005.10:g.131772421_131772437= NC_000005.10:g.131772431_131772437del NC_000005.10:g.131772432_131772437del NC_000005.10:g.131772433_131772437del NC_000005.10:g.131772434_131772437del NC_000005.10:g.131772435_131772437del NC_000005.10:g.131772436_131772437del NC_000005.10:g.131772437del NC_000005.10:g.131772437dup NC_000005.10:g.131772436_131772437dup
GRCh37.p13 chr 5 NC_000005.9:g.131108114_131108130= NC_000005.9:g.131108124_131108130del NC_000005.9:g.131108125_131108130del NC_000005.9:g.131108126_131108130del NC_000005.9:g.131108127_131108130del NC_000005.9:g.131108128_131108130del NC_000005.9:g.131108129_131108130del NC_000005.9:g.131108130del NC_000005.9:g.131108130dup NC_000005.9:g.131108129_131108130dup
FNIP1 transcript variant 2 NM_001008738.2:c.92+24409= NM_001008738.2:c.92+24403_92+24409del NM_001008738.2:c.92+24404_92+24409del NM_001008738.2:c.92+24405_92+24409del NM_001008738.2:c.92+24406_92+24409del NM_001008738.2:c.92+24407_92+24409del NM_001008738.2:c.92+24408_92+24409del NM_001008738.2:c.92+24409del NM_001008738.2:c.92+24409dup NM_001008738.2:c.92+24408_92+24409dup
FNIP1 transcript variant 2 NM_001008738.3:c.92+24409= NM_001008738.3:c.92+24403_92+24409del NM_001008738.3:c.92+24404_92+24409del NM_001008738.3:c.92+24405_92+24409del NM_001008738.3:c.92+24406_92+24409del NM_001008738.3:c.92+24407_92+24409del NM_001008738.3:c.92+24408_92+24409del NM_001008738.3:c.92+24409del NM_001008738.3:c.92+24409dup NM_001008738.3:c.92+24408_92+24409dup
FNIP1 transcript variant 3 NM_001346113.2:c.92+24409= NM_001346113.2:c.92+24403_92+24409del NM_001346113.2:c.92+24404_92+24409del NM_001346113.2:c.92+24405_92+24409del NM_001346113.2:c.92+24406_92+24409del NM_001346113.2:c.92+24407_92+24409del NM_001346113.2:c.92+24408_92+24409del NM_001346113.2:c.92+24409del NM_001346113.2:c.92+24409dup NM_001346113.2:c.92+24408_92+24409dup
FNIP1 transcript variant 4 NM_001346114.2:c.92+24409= NM_001346114.2:c.92+24403_92+24409del NM_001346114.2:c.92+24404_92+24409del NM_001346114.2:c.92+24405_92+24409del NM_001346114.2:c.92+24406_92+24409del NM_001346114.2:c.92+24407_92+24409del NM_001346114.2:c.92+24408_92+24409del NM_001346114.2:c.92+24409del NM_001346114.2:c.92+24409dup NM_001346114.2:c.92+24408_92+24409dup
FNIP1 transcript variant 1 NM_133372.2:c.92+24409= NM_133372.2:c.92+24403_92+24409del NM_133372.2:c.92+24404_92+24409del NM_133372.2:c.92+24405_92+24409del NM_133372.2:c.92+24406_92+24409del NM_133372.2:c.92+24407_92+24409del NM_133372.2:c.92+24408_92+24409del NM_133372.2:c.92+24409del NM_133372.2:c.92+24409dup NM_133372.2:c.92+24408_92+24409dup
FNIP1 transcript variant 1 NM_133372.3:c.92+24409= NM_133372.3:c.92+24403_92+24409del NM_133372.3:c.92+24404_92+24409del NM_133372.3:c.92+24405_92+24409del NM_133372.3:c.92+24406_92+24409del NM_133372.3:c.92+24407_92+24409del NM_133372.3:c.92+24408_92+24409del NM_133372.3:c.92+24409del NM_133372.3:c.92+24409dup NM_133372.3:c.92+24408_92+24409dup
FNIP1 transcript variant X1 XM_005272141.1:c.92+24409= XM_005272141.1:c.92+24403_92+24409del XM_005272141.1:c.92+24404_92+24409del XM_005272141.1:c.92+24405_92+24409del XM_005272141.1:c.92+24406_92+24409del XM_005272141.1:c.92+24407_92+24409del XM_005272141.1:c.92+24408_92+24409del XM_005272141.1:c.92+24409del XM_005272141.1:c.92+24409dup XM_005272141.1:c.92+24408_92+24409dup
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#.

72 SubSNP, 33 Frequency submissions
No Submitter Submission ID Date (Build)
1 HUMANGENOME_JCVI ss95407267 Feb 05, 2009 (130)
2 BCMHGSC_JDW ss103717963 Dec 01, 2009 (131)
3 GMI ss287781098 Mar 15, 2016 (147)
4 GMI ss288659007 May 04, 2012 (137)
5 GMI ss288659008 May 04, 2012 (137)
6 PJP ss295245267 Aug 21, 2014 (142)
7 PJP ss295245268 May 09, 2011 (134)
8 SSMP ss663561083 Apr 01, 2015 (144)
9 BILGI_BIOE ss666328531 Apr 25, 2013 (138)
10 SSIP ss947153769 Aug 21, 2014 (142)
11 DDI ss1536479986 Apr 01, 2015 (144)
12 EVA_UK10K_ALSPAC ss1704872488 Apr 01, 2015 (144)
13 EVA_UK10K_TWINSUK ss1704872600 Apr 01, 2015 (144)
14 EVA_UK10K_ALSPAC ss1710231292 Apr 01, 2015 (144)
15 EVA_UK10K_TWINSUK ss1710231299 Apr 01, 2015 (144)
16 HAMMER_LAB ss1804084318 Sep 08, 2015 (146)
17 SYSTEMSBIOZJU ss2626137886 Nov 08, 2017 (151)
18 SWEGEN ss2997798342 Nov 08, 2017 (151)
19 MCHAISSO ss3065051526 Nov 08, 2017 (151)
20 BIOINF_KMB_FNS_UNIBA ss3645908035 Oct 12, 2018 (152)
21 URBANLAB ss3648170919 Oct 12, 2018 (152)
22 EVA_DECODE ss3715708488 Jul 13, 2019 (153)
23 EVA_DECODE ss3715708489 Jul 13, 2019 (153)
24 EVA_DECODE ss3715708490 Jul 13, 2019 (153)
25 EVA_DECODE ss3715708491 Jul 13, 2019 (153)
26 ACPOP ss3732821518 Jul 13, 2019 (153)
27 ACPOP ss3732821519 Jul 13, 2019 (153)
28 ACPOP ss3732821520 Jul 13, 2019 (153)
29 ACPOP ss3732821521 Jul 13, 2019 (153)
30 ACPOP ss3732821522 Jul 13, 2019 (153)
31 PACBIO ss3785251610 Jul 13, 2019 (153)
32 PACBIO ss3790635397 Jul 13, 2019 (153)
33 PACBIO ss3795512338 Jul 13, 2019 (153)
34 EVA ss3829507401 Apr 26, 2020 (154)
35 KOGIC ss3957649537 Apr 26, 2020 (154)
36 KOGIC ss3957649538 Apr 26, 2020 (154)
37 KOGIC ss3957649539 Apr 26, 2020 (154)
38 KOGIC ss3957649540 Apr 26, 2020 (154)
39 KOGIC ss3957649541 Apr 26, 2020 (154)
40 KOGIC ss3957649542 Apr 26, 2020 (154)
41 GNOMAD ss4129382557 Apr 26, 2021 (155)
42 GNOMAD ss4129382558 Apr 26, 2021 (155)
43 GNOMAD ss4129382559 Apr 26, 2021 (155)
44 GNOMAD ss4129382560 Apr 26, 2021 (155)
45 GNOMAD ss4129382561 Apr 26, 2021 (155)
46 GNOMAD ss4129382562 Apr 26, 2021 (155)
47 GNOMAD ss4129382563 Apr 26, 2021 (155)
48 TOMMO_GENOMICS ss5174152963 Apr 26, 2021 (155)
49 TOMMO_GENOMICS ss5174152964 Apr 26, 2021 (155)
50 TOMMO_GENOMICS ss5174152965 Apr 26, 2021 (155)
51 TOMMO_GENOMICS ss5174152966 Apr 26, 2021 (155)
52 TOMMO_GENOMICS ss5174152967 Apr 26, 2021 (155)
53 1000G_HIGH_COVERAGE ss5265857792 Oct 17, 2022 (156)
54 1000G_HIGH_COVERAGE ss5265857793 Oct 17, 2022 (156)
55 1000G_HIGH_COVERAGE ss5265857794 Oct 17, 2022 (156)
56 1000G_HIGH_COVERAGE ss5265857795 Oct 17, 2022 (156)
57 1000G_HIGH_COVERAGE ss5265857796 Oct 17, 2022 (156)
58 1000G_HIGH_COVERAGE ss5265857797 Oct 17, 2022 (156)
59 HUGCELL_USP ss5463822617 Oct 17, 2022 (156)
60 HUGCELL_USP ss5463822618 Oct 17, 2022 (156)
61 HUGCELL_USP ss5463822619 Oct 17, 2022 (156)
62 HUGCELL_USP ss5463822620 Oct 17, 2022 (156)
63 TOMMO_GENOMICS ss5711231583 Oct 17, 2022 (156)
64 TOMMO_GENOMICS ss5711231584 Oct 17, 2022 (156)
65 TOMMO_GENOMICS ss5711231585 Oct 17, 2022 (156)
66 TOMMO_GENOMICS ss5711231586 Oct 17, 2022 (156)
67 TOMMO_GENOMICS ss5711231587 Oct 17, 2022 (156)
68 EVA ss5835647306 Oct 17, 2022 (156)
69 EVA ss5835647307 Oct 17, 2022 (156)
70 EVA ss5835647308 Oct 17, 2022 (156)
71 EVA ss5896335735 Oct 17, 2022 (156)
72 EVA ss5980316548 Oct 17, 2022 (156)
73 The Avon Longitudinal Study of Parents and Children

Submission ignored due to conflicting rows:
Row 16079191 (NC_000005.9:131108114:AA: 3334/3854)
Row 16079192 (NC_000005.9:131108113:AAAA: 386/3854)

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

Submission ignored due to conflicting rows:
Row 16079191 (NC_000005.9:131108114:AA: 3334/3854)
Row 16079192 (NC_000005.9:131108113:AAAA: 386/3854)

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

Submission ignored due to conflicting rows:
Row 204473667 (NC_000005.10:131772420::A 74/133416)
Row 204473668 (NC_000005.10:131772420::AA 1/133418)
Row 204473669 (NC_000005.10:131772420:A: 4160/133334)...

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

Submission ignored due to conflicting rows:
Row 204473667 (NC_000005.10:131772420::A 74/133416)
Row 204473668 (NC_000005.10:131772420::AA 1/133418)
Row 204473669 (NC_000005.10:131772420:A: 4160/133334)...

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

Submission ignored due to conflicting rows:
Row 204473667 (NC_000005.10:131772420::A 74/133416)
Row 204473668 (NC_000005.10:131772420::AA 1/133418)
Row 204473669 (NC_000005.10:131772420:A: 4160/133334)...

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

Submission ignored due to conflicting rows:
Row 204473667 (NC_000005.10:131772420::A 74/133416)
Row 204473668 (NC_000005.10:131772420::AA 1/133418)
Row 204473669 (NC_000005.10:131772420:A: 4160/133334)...

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

Submission ignored due to conflicting rows:
Row 204473667 (NC_000005.10:131772420::A 74/133416)
Row 204473668 (NC_000005.10:131772420::AA 1/133418)
Row 204473669 (NC_000005.10:131772420:A: 4160/133334)...

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

Submission ignored due to conflicting rows:
Row 204473667 (NC_000005.10:131772420::A 74/133416)
Row 204473668 (NC_000005.10:131772420::AA 1/133418)
Row 204473669 (NC_000005.10:131772420:A: 4160/133334)...

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

Submission ignored due to conflicting rows:
Row 204473667 (NC_000005.10:131772420::A 74/133416)
Row 204473668 (NC_000005.10:131772420::AA 1/133418)
Row 204473669 (NC_000005.10:131772420:A: 4160/133334)...

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

Submission ignored due to conflicting rows:
Row 14027538 (NC_000005.10:131772421:AAAA: 189/1832)
Row 14027539 (NC_000005.10:131772422:AAA: 737/1832)
Row 14027540 (NC_000005.10:131772425::A 35/1832)...

- Apr 26, 2020 (154)
83 Korean Genome Project

Submission ignored due to conflicting rows:
Row 14027538 (NC_000005.10:131772421:AAAA: 189/1832)
Row 14027539 (NC_000005.10:131772422:AAA: 737/1832)
Row 14027540 (NC_000005.10:131772425::A 35/1832)...

- Apr 26, 2020 (154)
84 Korean Genome Project

Submission ignored due to conflicting rows:
Row 14027538 (NC_000005.10:131772421:AAAA: 189/1832)
Row 14027539 (NC_000005.10:131772422:AAA: 737/1832)
Row 14027540 (NC_000005.10:131772425::A 35/1832)...

- Apr 26, 2020 (154)
85 Korean Genome Project

Submission ignored due to conflicting rows:
Row 14027538 (NC_000005.10:131772421:AAAA: 189/1832)
Row 14027539 (NC_000005.10:131772422:AAA: 737/1832)
Row 14027540 (NC_000005.10:131772425::A 35/1832)...

- Apr 26, 2020 (154)
86 Korean Genome Project

Submission ignored due to conflicting rows:
Row 14027538 (NC_000005.10:131772421:AAAA: 189/1832)
Row 14027539 (NC_000005.10:131772422:AAA: 737/1832)
Row 14027540 (NC_000005.10:131772425::A 35/1832)...

- Apr 26, 2020 (154)
87 Korean Genome Project

Submission ignored due to conflicting rows:
Row 14027538 (NC_000005.10:131772421:AAAA: 189/1832)
Row 14027539 (NC_000005.10:131772422:AAA: 737/1832)
Row 14027540 (NC_000005.10:131772425::A 35/1832)...

- Apr 26, 2020 (154)
88 Northern Sweden

Submission ignored due to conflicting rows:
Row 6106383 (NC_000005.9:131108113:AAA: 389/596)
Row 6106384 (NC_000005.9:131108113:A: 7/596)
Row 6106385 (NC_000005.9:131108113:AA: 22/596)...

- Jul 13, 2019 (153)
89 Northern Sweden

Submission ignored due to conflicting rows:
Row 6106383 (NC_000005.9:131108113:AAA: 389/596)
Row 6106384 (NC_000005.9:131108113:A: 7/596)
Row 6106385 (NC_000005.9:131108113:AA: 22/596)...

- Jul 13, 2019 (153)
90 Northern Sweden

Submission ignored due to conflicting rows:
Row 6106383 (NC_000005.9:131108113:AAA: 389/596)
Row 6106384 (NC_000005.9:131108113:A: 7/596)
Row 6106385 (NC_000005.9:131108113:AA: 22/596)...

- Jul 13, 2019 (153)
91 Northern Sweden

Submission ignored due to conflicting rows:
Row 6106383 (NC_000005.9:131108113:AAA: 389/596)
Row 6106384 (NC_000005.9:131108113:A: 7/596)
Row 6106385 (NC_000005.9:131108113:AA: 22/596)...

- Jul 13, 2019 (153)
92 Northern Sweden

Submission ignored due to conflicting rows:
Row 6106383 (NC_000005.9:131108113:AAA: 389/596)
Row 6106384 (NC_000005.9:131108113:A: 7/596)
Row 6106385 (NC_000005.9:131108113:AA: 22/596)...

- Jul 13, 2019 (153)
93 8.3KJPN

Submission ignored due to conflicting rows:
Row 32122270 (NC_000005.9:131108113:AAA: 6589/16756)
Row 32122271 (NC_000005.9:131108113:AAAA: 1449/16756)
Row 32122272 (NC_000005.9:131108113:A: 280/16756)...

- Apr 26, 2021 (155)
94 8.3KJPN

Submission ignored due to conflicting rows:
Row 32122270 (NC_000005.9:131108113:AAA: 6589/16756)
Row 32122271 (NC_000005.9:131108113:AAAA: 1449/16756)
Row 32122272 (NC_000005.9:131108113:A: 280/16756)...

- Apr 26, 2021 (155)
95 8.3KJPN

Submission ignored due to conflicting rows:
Row 32122270 (NC_000005.9:131108113:AAA: 6589/16756)
Row 32122271 (NC_000005.9:131108113:AAAA: 1449/16756)
Row 32122272 (NC_000005.9:131108113:A: 280/16756)...

- Apr 26, 2021 (155)
96 8.3KJPN

Submission ignored due to conflicting rows:
Row 32122270 (NC_000005.9:131108113:AAA: 6589/16756)
Row 32122271 (NC_000005.9:131108113:AAAA: 1449/16756)
Row 32122272 (NC_000005.9:131108113:A: 280/16756)...

- Apr 26, 2021 (155)
97 8.3KJPN

Submission ignored due to conflicting rows:
Row 32122270 (NC_000005.9:131108113:AAA: 6589/16756)
Row 32122271 (NC_000005.9:131108113:AAAA: 1449/16756)
Row 32122272 (NC_000005.9:131108113:A: 280/16756)...

- Apr 26, 2021 (155)
98 14KJPN

Submission ignored due to conflicting rows:
Row 45068687 (NC_000005.10:131772420:AAA: 11200/28256)
Row 45068688 (NC_000005.10:131772420:AAAA: 2419/28256)
Row 45068689 (NC_000005.10:131772420:A: 425/28256)...

- Oct 17, 2022 (156)
99 14KJPN

Submission ignored due to conflicting rows:
Row 45068687 (NC_000005.10:131772420:AAA: 11200/28256)
Row 45068688 (NC_000005.10:131772420:AAAA: 2419/28256)
Row 45068689 (NC_000005.10:131772420:A: 425/28256)...

- Oct 17, 2022 (156)
100 14KJPN

Submission ignored due to conflicting rows:
Row 45068687 (NC_000005.10:131772420:AAA: 11200/28256)
Row 45068688 (NC_000005.10:131772420:AAAA: 2419/28256)
Row 45068689 (NC_000005.10:131772420:A: 425/28256)...

- Oct 17, 2022 (156)
101 14KJPN

Submission ignored due to conflicting rows:
Row 45068687 (NC_000005.10:131772420:AAA: 11200/28256)
Row 45068688 (NC_000005.10:131772420:AAAA: 2419/28256)
Row 45068689 (NC_000005.10:131772420:A: 425/28256)...

- Oct 17, 2022 (156)
102 14KJPN

Submission ignored due to conflicting rows:
Row 45068687 (NC_000005.10:131772420:AAA: 11200/28256)
Row 45068688 (NC_000005.10:131772420:AAAA: 2419/28256)
Row 45068689 (NC_000005.10:131772420:A: 425/28256)...

- Oct 17, 2022 (156)
103 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 16079191 (NC_000005.9:131108114:AA: 3134/3708)
Row 16079192 (NC_000005.9:131108113:AAAA: 433/3708)

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

Submission ignored due to conflicting rows:
Row 16079191 (NC_000005.9:131108114:AA: 3134/3708)
Row 16079192 (NC_000005.9:131108113:AAAA: 433/3708)

- Oct 12, 2018 (152)
105 ALFA NC_000005.10 - 131772421 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)
rs142655475 Oct 11, 2011 (135)
rs199642387 May 11, 2012 (137)
rs34896705 May 23, 2006 (127)
rs68050933 Feb 27, 2009 (130)
rs68050934 Feb 27, 2009 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
2024375035 NC_000005.10:131772420:AAAAAAAAAAA…

NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAA

NC_000005.10:131772420:AAAAAAAAAAA…

NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAA

(self)
2024375035 NC_000005.10:131772420:AAAAAAAAAAA…

NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA

NC_000005.10:131772420:AAAAAAAAAAA…

NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA

(self)
ss5174152966 NC_000005.9:131108113:AAAAA: NC_000005.10:131772420:AAAAAAAAAAA…

NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss3957649542, ss4129382563, ss5265857797, ss5711231586 NC_000005.10:131772420:AAAAA: NC_000005.10:131772420:AAAAAAAAAAA…

NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
2024375035 NC_000005.10:131772420:AAAAAAAAAAA…

NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

NC_000005.10:131772420:AAAAAAAAAAA…

NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA

(self)
ss288659007 NC_000005.8:131136012:AAAA: NC_000005.10:131772420:AAAAAAAAAAA…

NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss1704872488, ss1704872600, ss2997798342, ss3732821522, ss3785251610, ss3829507401, ss5174152964, ss5835647307 NC_000005.9:131108113:AAAA: NC_000005.10:131772420:AAAAAAAAAAA…

NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss3715708491, ss4129382562, ss5265857795, ss5463822617, ss5711231584 NC_000005.10:131772420:AAAA: NC_000005.10:131772420:AAAAAAAAAAA…

NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
2024375035 NC_000005.10:131772420:AAAAAAAAAAA…

NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

NC_000005.10:131772420:AAAAAAAAAAA…

NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss3957649537 NC_000005.10:131772421:AAAA: NC_000005.10:131772420:AAAAAAAAAAA…

NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

(self)
ss288659008, ss295245267 NC_000005.8:131136012:AAA: NC_000005.10:131772420:AAAAAAAAAAA…

NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss295245268 NC_000005.8:131136026:AAA: NC_000005.10:131772420:AAAAAAAAAAA…

NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss663561083, ss666328531, ss1536479986, ss1804084318, ss2626137886, ss3732821518, ss3790635397, ss3795512338, ss5174152963, ss5835647306, ss5980316548 NC_000005.9:131108113:AAA: NC_000005.10:131772420:AAAAAAAAAAA…

NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss947153769, ss1710231292, ss1710231299 NC_000005.9:131108114:AAA: NC_000005.10:131772420:AAAAAAAAAAA…

NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss3065051526, ss3645908035, ss3648170919, ss4129382561, ss5265857792, ss5463822618, ss5711231583, ss5896335735 NC_000005.10:131772420:AAA: NC_000005.10:131772420:AAAAAAAAAAA…

NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
2024375035 NC_000005.10:131772420:AAAAAAAAAAA…

NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

NC_000005.10:131772420:AAAAAAAAAAA…

NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss3715708490 NC_000005.10:131772421:AAA: NC_000005.10:131772420:AAAAAAAAAAA…

NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss3957649538 NC_000005.10:131772422:AAA: NC_000005.10:131772420:AAAAAAAAAAA…

NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss287781098 NT_034772.6:39421985:AAA: NC_000005.10:131772420:AAAAAAAAAAA…

NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss95407267, ss103717963 NT_034772.6:39421999:AAA: NC_000005.10:131772420:AAAAAAAAAAA…

NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA

(self)
ss3732821520, ss5174152967, ss5835647308 NC_000005.9:131108113:AA: NC_000005.10:131772420:AAAAAAAAAAA…

NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
NC_000005.9:131108114:AA: NC_000005.10:131772420:AAAAAAAAAAA…

NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss4129382560, ss5265857794, ss5463822619, ss5711231587 NC_000005.10:131772420:AA: NC_000005.10:131772420:AAAAAAAAAAA…

NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
2024375035 NC_000005.10:131772420:AAAAAAAAAAA…

NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

NC_000005.10:131772420:AAAAAAAAAAA…

NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3715708489 NC_000005.10:131772422:AA: NC_000005.10:131772420:AAAAAAAAAAA…

NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3957649540 NC_000005.10:131772423:AA: NC_000005.10:131772420:AAAAAAAAAAA…

NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA

(self)
ss3732821519, ss5174152965 NC_000005.9:131108113:A: NC_000005.10:131772420:AAAAAAAAAAA…

NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss4129382559, ss5265857793, ss5463822620, ss5711231585 NC_000005.10:131772420:A: NC_000005.10:131772420:AAAAAAAAAAA…

NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
2024375035 NC_000005.10:131772420:AAAAAAAAAAA…

NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

NC_000005.10:131772420:AAAAAAAAAAA…

NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3715708488 NC_000005.10:131772423:A: NC_000005.10:131772420:AAAAAAAAAAA…

NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3957649541 NC_000005.10:131772424:A: NC_000005.10:131772420:AAAAAAAAAAA…

NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

(self)
ss3732821521 NC_000005.9:131108113::A NC_000005.10:131772420:AAAAAAAAAAA…

NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss4129382557, ss5265857796 NC_000005.10:131772420::A NC_000005.10:131772420:AAAAAAAAAAA…

NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
2024375035 NC_000005.10:131772420:AAAAAAAAAAA…

NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

NC_000005.10:131772420:AAAAAAAAAAA…

NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss3957649539 NC_000005.10:131772425::A NC_000005.10:131772420:AAAAAAAAAAA…

NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA

(self)
ss4129382558 NC_000005.10:131772420::AA NC_000005.10:131772420:AAAAAAAAAAA…

NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
2024375035 NC_000005.10:131772420:AAAAAAAAAAA…

NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

NC_000005.10:131772420:AAAAAAAAAAA…

NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA

(self)
Removed from this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Destination RSIDs
ss3478758533 NC_000005.10:131772420:AAAAAA: NC_000005.10:131772420:AAAAAAAAAAA…

NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAAA

ss3478758534 NC_000005.10:131772420:AAAAAAA: NC_000005.10:131772420:AAAAAAAAAAA…

NC_000005.10:131772420:AAAAAAAAAAAAAAAAA:AAAAAAAAAA

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 rs10579529

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