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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.

rs36070456

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr8:97729088-97729105 (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(T)4 / delTTT / delTT / delT / …

del(T)4 / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)12

Variation Type
Indel Insertion and Deletion
Frequency
delT=0.1242 (845/6802, ALFA)
(T)18=0.3710 (1858/5008, 1000G)
delTT=0.2426 (935/3854, ALSPAC)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
MTDH : 3 Prime UTR 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 6802 TTTTTTTTTTTTTTTTTT=0.7768 TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0957, TTTTTTTTTTTTTTTTT=0.1242, TTTTTTTTTTTTTTTTTTT=0.0032, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000 0.788778 0.037169 0.174053 32
European Sub 6512 TTTTTTTTTTTTTTTTTT=0.7670 TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.1000, TTTTTTTTTTTTTTTTT=0.1296, TTTTTTTTTTTTTTTTTTT=0.0034, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000 0.77761 0.039201 0.183189 32
African Sub 44 TTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
African Others Sub 0 TTTTTTTTTTTTTTTTTT=0 TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0 0 0 0 N/A
African American Sub 44 TTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Asian Sub 2 TTTTTTTTTTTTTTTTTT=1.0 TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
East Asian Sub 2 TTTTTTTTTTTTTTTTTT=1.0 TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0 1.0 0.0 0.0 N/A
Other Asian Sub 0 TTTTTTTTTTTTTTTTTT=0 TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0 0 0 0 N/A
Latin American 1 Sub 30 TTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Latin American 2 Sub 110 TTTTTTTTTTTTTTTTTT=1.000 TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000 1.0 0.0 0.0 N/A
South Asian Sub 16 TTTTTTTTTTTTTTTTTT=1.00 TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00 1.0 0.0 0.0 N/A
Other Sub 88 TTTTTTTTTTTTTTTTTT=0.99 TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.01, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00 0.977273 0.0 0.022727 0


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 6802 (T)18=0.7768 delTTT=0.0000, delTT=0.0957, delT=0.1242, dupT=0.0032, dupTT=0.0000, dupTTT=0.0000
Allele Frequency Aggregator European Sub 6512 (T)18=0.7670 delTTT=0.0000, delTT=0.1000, delT=0.1296, dupT=0.0034, dupTT=0.0000, dupTTT=0.0000
Allele Frequency Aggregator Latin American 2 Sub 110 (T)18=1.000 delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000
Allele Frequency Aggregator Other Sub 88 (T)18=0.99 delTTT=0.00, delTT=0.00, delT=0.01, dupT=0.00, dupTT=0.00, dupTTT=0.00
Allele Frequency Aggregator African Sub 44 (T)18=1.00 delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00
Allele Frequency Aggregator Latin American 1 Sub 30 (T)18=1.00 delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00
Allele Frequency Aggregator South Asian Sub 16 (T)18=1.00 delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00
Allele Frequency Aggregator Asian Sub 2 (T)18=1.0 delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dupTTT=0.0
1000Genomes Global Study-wide 5008 (T)18=0.3710 delT=0.6290
1000Genomes African Sub 1322 (T)18=0.1800 delT=0.8200
1000Genomes East Asian Sub 1008 (T)18=0.3393 delT=0.6607
1000Genomes Europe Sub 1006 (T)18=0.5547 delT=0.4453
1000Genomes South Asian Sub 978 (T)18=0.428 delT=0.572
1000Genomes American Sub 694 (T)18=0.434 delT=0.566
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 (T)18=0.7574 delTT=0.2426
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 8 NC_000008.11:g.97729102_97729105del
GRCh38.p14 chr 8 NC_000008.11:g.97729103_97729105del
GRCh38.p14 chr 8 NC_000008.11:g.97729104_97729105del
GRCh38.p14 chr 8 NC_000008.11:g.97729105del
GRCh38.p14 chr 8 NC_000008.11:g.97729105dup
GRCh38.p14 chr 8 NC_000008.11:g.97729104_97729105dup
GRCh38.p14 chr 8 NC_000008.11:g.97729103_97729105dup
GRCh38.p14 chr 8 NC_000008.11:g.97729094_97729105dup
GRCh37.p13 chr 8 NC_000008.10:g.98741330_98741333del
GRCh37.p13 chr 8 NC_000008.10:g.98741331_98741333del
GRCh37.p13 chr 8 NC_000008.10:g.98741332_98741333del
GRCh37.p13 chr 8 NC_000008.10:g.98741333del
GRCh37.p13 chr 8 NC_000008.10:g.98741333dup
GRCh37.p13 chr 8 NC_000008.10:g.98741332_98741333dup
GRCh37.p13 chr 8 NC_000008.10:g.98741331_98741333dup
GRCh37.p13 chr 8 NC_000008.10:g.98741322_98741333dup
Gene: MTDH, metadherin (plus strand)
Molecule type Change Amino acid[Codon] SO Term
MTDH transcript variant 4 NM_001363138.1:c.*4418_*4…

NM_001363138.1:c.*4418_*4435=

N/A 3 Prime UTR Variant
MTDH transcript variant 5 NM_001363139.1:c.*4418_*4…

NM_001363139.1:c.*4418_*4435=

N/A 3 Prime UTR Variant
MTDH transcript variant 2 NM_001363136.1:c.*4418_*4…

NM_001363136.1:c.*4418_*4435=

N/A 3 Prime UTR Variant
MTDH transcript variant 3 NM_001363137.1:c.*4418_*4…

NM_001363137.1:c.*4418_*4435=

N/A 3 Prime UTR Variant
MTDH transcript variant 1 NM_178812.4:c.*4418_*4435= N/A 3 Prime UTR Variant
MTDH transcript variant X1 XM_011517368.3:c.*4418_*4…

XM_011517368.3:c.*4418_*4435=

N/A 3 Prime UTR Variant
MTDH transcript variant X2 XM_011517369.4:c.*4418_*4…

XM_011517369.4:c.*4418_*4435=

N/A 3 Prime UTR Variant
MTDH transcript variant X3 XM_011517370.4:c.*4418_*4…

XM_011517370.4:c.*4418_*4435=

N/A 3 Prime UTR Variant
MTDH transcript variant X4 XM_047422418.1:c.*4418_*4…

XM_047422418.1:c.*4418_*4435=

N/A 3 Prime UTR Variant
MTDH transcript variant X5 XM_017013968.3:c.*4418_*4…

XM_017013968.3:c.*4418_*4435=

N/A 3 Prime UTR 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 (T)18= del(T)4 delTTT delTT delT dupT dupTT dupTTT dup(T)12
GRCh38.p14 chr 8 NC_000008.11:g.97729088_97729105= NC_000008.11:g.97729102_97729105del NC_000008.11:g.97729103_97729105del NC_000008.11:g.97729104_97729105del NC_000008.11:g.97729105del NC_000008.11:g.97729105dup NC_000008.11:g.97729104_97729105dup NC_000008.11:g.97729103_97729105dup NC_000008.11:g.97729094_97729105dup
GRCh37.p13 chr 8 NC_000008.10:g.98741316_98741333= NC_000008.10:g.98741330_98741333del NC_000008.10:g.98741331_98741333del NC_000008.10:g.98741332_98741333del NC_000008.10:g.98741333del NC_000008.10:g.98741333dup NC_000008.10:g.98741332_98741333dup NC_000008.10:g.98741331_98741333dup NC_000008.10:g.98741322_98741333dup
MTDH transcript variant 1 NM_178812.4:c.*4418_*4435= NM_178812.4:c.*4432_*4435del NM_178812.4:c.*4433_*4435del NM_178812.4:c.*4434_*4435del NM_178812.4:c.*4435del NM_178812.4:c.*4435dup NM_178812.4:c.*4434_*4435dup NM_178812.4:c.*4433_*4435dup NM_178812.4:c.*4424_*4435dup
MTDH transcript NM_178812.3:c.*4418_*4435= NM_178812.3:c.*4432_*4435del NM_178812.3:c.*4433_*4435del NM_178812.3:c.*4434_*4435del NM_178812.3:c.*4435del NM_178812.3:c.*4435dup NM_178812.3:c.*4434_*4435dup NM_178812.3:c.*4433_*4435dup NM_178812.3:c.*4424_*4435dup
MTDH transcript variant X2 XM_011517369.4:c.*4418_*4435= XM_011517369.4:c.*4432_*4435del XM_011517369.4:c.*4433_*4435del XM_011517369.4:c.*4434_*4435del XM_011517369.4:c.*4435del XM_011517369.4:c.*4435dup XM_011517369.4:c.*4434_*4435dup XM_011517369.4:c.*4433_*4435dup XM_011517369.4:c.*4424_*4435dup
MTDH transcript variant X3 XM_011517370.4:c.*4418_*4435= XM_011517370.4:c.*4432_*4435del XM_011517370.4:c.*4433_*4435del XM_011517370.4:c.*4434_*4435del XM_011517370.4:c.*4435del XM_011517370.4:c.*4435dup XM_011517370.4:c.*4434_*4435dup XM_011517370.4:c.*4433_*4435dup XM_011517370.4:c.*4424_*4435dup
MTDH transcript variant X1 XM_011517368.3:c.*4418_*4435= XM_011517368.3:c.*4432_*4435del XM_011517368.3:c.*4433_*4435del XM_011517368.3:c.*4434_*4435del XM_011517368.3:c.*4435del XM_011517368.3:c.*4435dup XM_011517368.3:c.*4434_*4435dup XM_011517368.3:c.*4433_*4435dup XM_011517368.3:c.*4424_*4435dup
MTDH transcript variant X5 XM_017013968.3:c.*4418_*4435= XM_017013968.3:c.*4432_*4435del XM_017013968.3:c.*4433_*4435del XM_017013968.3:c.*4434_*4435del XM_017013968.3:c.*4435del XM_017013968.3:c.*4435dup XM_017013968.3:c.*4434_*4435dup XM_017013968.3:c.*4433_*4435dup XM_017013968.3:c.*4424_*4435dup
MTDH transcript variant 3 NM_001363137.1:c.*4418_*4435= NM_001363137.1:c.*4432_*4435del NM_001363137.1:c.*4433_*4435del NM_001363137.1:c.*4434_*4435del NM_001363137.1:c.*4435del NM_001363137.1:c.*4435dup NM_001363137.1:c.*4434_*4435dup NM_001363137.1:c.*4433_*4435dup NM_001363137.1:c.*4424_*4435dup
MTDH transcript variant 2 NM_001363136.1:c.*4418_*4435= NM_001363136.1:c.*4432_*4435del NM_001363136.1:c.*4433_*4435del NM_001363136.1:c.*4434_*4435del NM_001363136.1:c.*4435del NM_001363136.1:c.*4435dup NM_001363136.1:c.*4434_*4435dup NM_001363136.1:c.*4433_*4435dup NM_001363136.1:c.*4424_*4435dup
MTDH transcript variant 4 NM_001363138.1:c.*4418_*4435= NM_001363138.1:c.*4432_*4435del NM_001363138.1:c.*4433_*4435del NM_001363138.1:c.*4434_*4435del NM_001363138.1:c.*4435del NM_001363138.1:c.*4435dup NM_001363138.1:c.*4434_*4435dup NM_001363138.1:c.*4433_*4435dup NM_001363138.1:c.*4424_*4435dup
MTDH transcript variant 5 NM_001363139.1:c.*4418_*4435= NM_001363139.1:c.*4432_*4435del NM_001363139.1:c.*4433_*4435del NM_001363139.1:c.*4434_*4435del NM_001363139.1:c.*4435del NM_001363139.1:c.*4435dup NM_001363139.1:c.*4434_*4435dup NM_001363139.1:c.*4433_*4435dup NM_001363139.1:c.*4424_*4435dup
MTDH transcript variant X4 XM_047422418.1:c.*4418_*4435= XM_047422418.1:c.*4432_*4435del XM_047422418.1:c.*4433_*4435del XM_047422418.1:c.*4434_*4435del XM_047422418.1:c.*4435del XM_047422418.1:c.*4435dup XM_047422418.1:c.*4434_*4435dup XM_047422418.1:c.*4433_*4435dup XM_047422418.1:c.*4424_*4435dup
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#.

50 SubSNP, 25 Frequency submissions
No Submitter Submission ID Date (Build)
1 ABI ss43178843 Mar 15, 2006 (126)
2 GMI ss288924171 May 04, 2012 (137)
3 SSMP ss663883479 Apr 01, 2015 (144)
4 1000GENOMES ss1368030034 Aug 21, 2014 (142)
5 EVA_UK10K_ALSPAC ss1706167841 Apr 01, 2015 (144)
6 EVA_UK10K_TWINSUK ss1706167964 Apr 01, 2015 (144)
7 EVA_UK10K_TWINSUK ss1710394185 Apr 01, 2015 (144)
8 EVA_UK10K_ALSPAC ss1710394202 Apr 01, 2015 (144)
9 TMC_SNPDB ss1997213286 Jul 19, 2016 (147)
10 SWEGEN ss3003674042 Nov 08, 2017 (151)
11 EVA_DECODE ss3722610870 Jul 13, 2019 (153)
12 EVA_DECODE ss3722610871 Jul 13, 2019 (153)
13 EVA_DECODE ss3722610872 Jul 13, 2019 (153)
14 EVA_DECODE ss3722610873 Jul 13, 2019 (153)
15 EVA_DECODE ss3722610874 Jul 13, 2019 (153)
16 ACPOP ss3735926085 Jul 13, 2019 (153)
17 ACPOP ss3735926086 Jul 13, 2019 (153)
18 PACBIO ss3786225108 Jul 13, 2019 (153)
19 PACBIO ss3791467154 Jul 13, 2019 (153)
20 PACBIO ss3796348544 Jul 13, 2019 (153)
21 KHV_HUMAN_GENOMES ss3811529386 Jul 13, 2019 (153)
22 EVA ss3839163288 Apr 26, 2020 (154)
23 EVA ss3844623625 Apr 26, 2020 (154)
24 KOGIC ss3964454436 Apr 26, 2020 (154)
25 KOGIC ss3964454437 Apr 26, 2020 (154)
26 KOGIC ss3964454438 Apr 26, 2020 (154)
27 KOGIC ss3964454439 Apr 26, 2020 (154)
28 GNOMAD ss4189844589 Apr 26, 2021 (155)
29 GNOMAD ss4189844590 Apr 26, 2021 (155)
30 GNOMAD ss4189844591 Apr 26, 2021 (155)
31 GNOMAD ss4189844592 Apr 26, 2021 (155)
32 GNOMAD ss4189844593 Apr 26, 2021 (155)
33 GNOMAD ss4189844594 Apr 26, 2021 (155)
34 TOMMO_GENOMICS ss5190082480 Apr 26, 2021 (155)
35 TOMMO_GENOMICS ss5190082481 Apr 26, 2021 (155)
36 TOMMO_GENOMICS ss5190082482 Apr 26, 2021 (155)
37 TOMMO_GENOMICS ss5190082483 Apr 26, 2021 (155)
38 1000G_HIGH_COVERAGE ss5278227787 Oct 16, 2022 (156)
39 1000G_HIGH_COVERAGE ss5278227788 Oct 16, 2022 (156)
40 1000G_HIGH_COVERAGE ss5278227789 Oct 16, 2022 (156)
41 1000G_HIGH_COVERAGE ss5278227790 Oct 16, 2022 (156)
42 HUGCELL_USP ss5474677077 Oct 16, 2022 (156)
43 HUGCELL_USP ss5474677078 Oct 16, 2022 (156)
44 HUGCELL_USP ss5474677079 Oct 16, 2022 (156)
45 HUGCELL_USP ss5474677080 Oct 16, 2022 (156)
46 TOMMO_GENOMICS ss5732546453 Oct 16, 2022 (156)
47 TOMMO_GENOMICS ss5732546454 Oct 16, 2022 (156)
48 TOMMO_GENOMICS ss5732546455 Oct 16, 2022 (156)
49 TOMMO_GENOMICS ss5732546456 Oct 16, 2022 (156)
50 EVA ss5980518181 Oct 16, 2022 (156)
51 1000Genomes NC_000008.10 - 98741316 Oct 12, 2018 (152)
52 The Avon Longitudinal Study of Parents and Children NC_000008.10 - 98741316 Oct 12, 2018 (152)
53 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 305147255 (NC_000008.11:97729087::T 1023/126730)
Row 305147256 (NC_000008.11:97729087::TT 69/126734)
Row 305147257 (NC_000008.11:97729087:T: 53696/126530)...

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

Submission ignored due to conflicting rows:
Row 305147255 (NC_000008.11:97729087::T 1023/126730)
Row 305147256 (NC_000008.11:97729087::TT 69/126734)
Row 305147257 (NC_000008.11:97729087:T: 53696/126530)...

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

Submission ignored due to conflicting rows:
Row 305147255 (NC_000008.11:97729087::T 1023/126730)
Row 305147256 (NC_000008.11:97729087::TT 69/126734)
Row 305147257 (NC_000008.11:97729087:T: 53696/126530)...

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

Submission ignored due to conflicting rows:
Row 305147255 (NC_000008.11:97729087::T 1023/126730)
Row 305147256 (NC_000008.11:97729087::TT 69/126734)
Row 305147257 (NC_000008.11:97729087:T: 53696/126530)...

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

Submission ignored due to conflicting rows:
Row 305147255 (NC_000008.11:97729087::T 1023/126730)
Row 305147256 (NC_000008.11:97729087::TT 69/126734)
Row 305147257 (NC_000008.11:97729087:T: 53696/126530)...

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

Submission ignored due to conflicting rows:
Row 305147255 (NC_000008.11:97729087::T 1023/126730)
Row 305147256 (NC_000008.11:97729087::TT 69/126734)
Row 305147257 (NC_000008.11:97729087:T: 53696/126530)...

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

Submission ignored due to conflicting rows:
Row 20832437 (NC_000008.11:97729088:TT: 622/1832)
Row 20832438 (NC_000008.11:97729089:T: 617/1832)
Row 20832439 (NC_000008.11:97729090::T 38/1832)...

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

Submission ignored due to conflicting rows:
Row 20832437 (NC_000008.11:97729088:TT: 622/1832)
Row 20832438 (NC_000008.11:97729089:T: 617/1832)
Row 20832439 (NC_000008.11:97729090::T 38/1832)...

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

Submission ignored due to conflicting rows:
Row 20832437 (NC_000008.11:97729088:TT: 622/1832)
Row 20832438 (NC_000008.11:97729089:T: 617/1832)
Row 20832439 (NC_000008.11:97729090::T 38/1832)...

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

Submission ignored due to conflicting rows:
Row 20832437 (NC_000008.11:97729088:TT: 622/1832)
Row 20832438 (NC_000008.11:97729089:T: 617/1832)
Row 20832439 (NC_000008.11:97729090::T 38/1832)...

- Apr 26, 2020 (154)
63 Northern Sweden

Submission ignored due to conflicting rows:
Row 9210950 (NC_000008.10:98741315:TT: 100/594)
Row 9210951 (NC_000008.10:98741315:T: 157/594)

- Jul 13, 2019 (153)
64 Northern Sweden

Submission ignored due to conflicting rows:
Row 9210950 (NC_000008.10:98741315:TT: 100/594)
Row 9210951 (NC_000008.10:98741315:T: 157/594)

- Jul 13, 2019 (153)
65 8.3KJPN

Submission ignored due to conflicting rows:
Row 48051787 (NC_000008.10:98741315:TT: 6744/16758)
Row 48051788 (NC_000008.10:98741315:T: 5396/16758)
Row 48051789 (NC_000008.10:98741315:TTT: 9/16758)...

- Apr 26, 2021 (155)
66 8.3KJPN

Submission ignored due to conflicting rows:
Row 48051787 (NC_000008.10:98741315:TT: 6744/16758)
Row 48051788 (NC_000008.10:98741315:T: 5396/16758)
Row 48051789 (NC_000008.10:98741315:TTT: 9/16758)...

- Apr 26, 2021 (155)
67 8.3KJPN

Submission ignored due to conflicting rows:
Row 48051787 (NC_000008.10:98741315:TT: 6744/16758)
Row 48051788 (NC_000008.10:98741315:T: 5396/16758)
Row 48051789 (NC_000008.10:98741315:TTT: 9/16758)...

- Apr 26, 2021 (155)
68 8.3KJPN

Submission ignored due to conflicting rows:
Row 48051787 (NC_000008.10:98741315:TT: 6744/16758)
Row 48051788 (NC_000008.10:98741315:T: 5396/16758)
Row 48051789 (NC_000008.10:98741315:TTT: 9/16758)...

- Apr 26, 2021 (155)
69 14KJPN

Submission ignored due to conflicting rows:
Row 66383557 (NC_000008.11:97729087:T: 9163/28258)
Row 66383558 (NC_000008.11:97729087:TT: 11466/28258)
Row 66383559 (NC_000008.11:97729087:TTT: 9/28258)...

- Oct 16, 2022 (156)
70 14KJPN

Submission ignored due to conflicting rows:
Row 66383557 (NC_000008.11:97729087:T: 9163/28258)
Row 66383558 (NC_000008.11:97729087:TT: 11466/28258)
Row 66383559 (NC_000008.11:97729087:TTT: 9/28258)...

- Oct 16, 2022 (156)
71 14KJPN

Submission ignored due to conflicting rows:
Row 66383557 (NC_000008.11:97729087:T: 9163/28258)
Row 66383558 (NC_000008.11:97729087:TT: 11466/28258)
Row 66383559 (NC_000008.11:97729087:TTT: 9/28258)...

- Oct 16, 2022 (156)
72 14KJPN

Submission ignored due to conflicting rows:
Row 66383557 (NC_000008.11:97729087:T: 9163/28258)
Row 66383558 (NC_000008.11:97729087:TT: 11466/28258)
Row 66383559 (NC_000008.11:97729087:TTT: 9/28258)...

- Oct 16, 2022 (156)
73 UK 10K study - Twins

Submission ignored due to conflicting rows:
Row 24060901 (NC_000008.10:98741316:T: 1113/3708)
Row 24060902 (NC_000008.10:98741315:TT: 878/3708)

- Apr 26, 2020 (154)
74 UK 10K study - Twins - Oct 12, 2018 (152)
75 ALFA NC_000008.11 - 97729088 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).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss4189844594 NC_000008.11:97729087:TTTT: NC_000008.11:97729087:TTTTTTTTTTTT…

NC_000008.11:97729087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT

(self)
ss5190082482 NC_000008.10:98741315:TTT: NC_000008.11:97729087:TTTTTTTTTTTT…

NC_000008.11:97729087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
ss3722610870, ss3964454439, ss4189844593, ss5474677079, ss5732546455 NC_000008.11:97729087:TTT: NC_000008.11:97729087:TTTTTTTTTTTT…

NC_000008.11:97729087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
553813769 NC_000008.11:97729087:TTTTTTTTTTTT…

NC_000008.11:97729087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

NC_000008.11:97729087:TTTTTTTTTTTT…

NC_000008.11:97729087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT

(self)
24060902, ss663883479, ss1706167841, ss1706167964, ss1997213286, ss3003674042, ss3735926085, ss5190082480, ss5980518181 NC_000008.10:98741315:TT: NC_000008.11:97729087:TTTTTTTTTTTT…

NC_000008.11:97729087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss4189844592, ss5278227787, ss5474677077, ss5732546454 NC_000008.11:97729087:TT: NC_000008.11:97729087:TTTTTTTTTTTT…

NC_000008.11:97729087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
553813769 NC_000008.11:97729087:TTTTTTTTTTTT…

NC_000008.11:97729087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

NC_000008.11:97729087:TTTTTTTTTTTT…

NC_000008.11:97729087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss3722610871, ss3964454436 NC_000008.11:97729088:TT: NC_000008.11:97729087:TTTTTTTTTTTT…

NC_000008.11:97729087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT

(self)
ss288924171 NC_000008.9:98810491:T: NC_000008.11:97729087:TTTTTTTTTTTT…

NC_000008.11:97729087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
43264643, ss1368030034, ss3735926086, ss3786225108, ss3791467154, ss3796348544, ss5190082481 NC_000008.10:98741315:T: NC_000008.11:97729087:TTTTTTTTTTTT…

NC_000008.11:97729087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss1710394185, ss1710394202, ss3839163288 NC_000008.10:98741316:T: NC_000008.11:97729087:TTTTTTTTTTTT…

NC_000008.11:97729087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss3811529386, ss4189844591, ss5278227788, ss5474677078, ss5732546453 NC_000008.11:97729087:T: NC_000008.11:97729087:TTTTTTTTTTTT…

NC_000008.11:97729087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
553813769 NC_000008.11:97729087:TTTTTTTTTTTT…

NC_000008.11:97729087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

NC_000008.11:97729087:TTTTTTTTTTTT…

NC_000008.11:97729087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss3844623625 NC_000008.11:97729088:T: NC_000008.11:97729087:TTTTTTTTTTTT…

NC_000008.11:97729087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss3722610872, ss3964454437 NC_000008.11:97729089:T: NC_000008.11:97729087:TTTTTTTTTTTT…

NC_000008.11:97729087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss43178843 NT_008046.16:12014864:T: NC_000008.11:97729087:TTTTTTTTTTTT…

NC_000008.11:97729087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT

(self)
ss5190082483 NC_000008.10:98741315::T NC_000008.11:97729087:TTTTTTTTTTTT…

NC_000008.11:97729087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
ss4189844589, ss5278227789, ss5474677080, ss5732546456 NC_000008.11:97729087::T NC_000008.11:97729087:TTTTTTTTTTTT…

NC_000008.11:97729087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
553813769 NC_000008.11:97729087:TTTTTTTTTTTT…

NC_000008.11:97729087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

NC_000008.11:97729087:TTTTTTTTTTTT…

NC_000008.11:97729087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
ss3722610873, ss3964454438 NC_000008.11:97729090::T NC_000008.11:97729087:TTTTTTTTTTTT…

NC_000008.11:97729087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT

(self)
ss4189844590, ss5278227790 NC_000008.11:97729087::TT NC_000008.11:97729087:TTTTTTTTTTTT…

NC_000008.11:97729087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
553813769 NC_000008.11:97729087:TTTTTTTTTTTT…

NC_000008.11:97729087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

NC_000008.11:97729087:TTTTTTTTTTTT…

NC_000008.11:97729087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

(self)
553813769 NC_000008.11:97729087:TTTTTTTTTTTT…

NC_000008.11:97729087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

NC_000008.11:97729087:TTTTTTTTTTTT…

NC_000008.11:97729087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT

(self)
ss3722610874 NC_000008.11:97729090::TTTTTTTTTTTT NC_000008.11:97729087:TTTTTTTTTTTT…

NC_000008.11:97729087:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

(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 rs36070456

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