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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.

rs74046640

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:1184990 (GRCh38.p13) 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
C>G / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.006947 (1731/249180, GnomAD_exome)
G=0.009974 (1032/103466, ExAC)
G=0.04288 (3370/78592, PAGE_STUDY) (+ 8 more)
G=0.00151 (67/44306, ALFA)
G=0.02861 (372/13004, GO-ESP)
G=0.0274 (137/5008, 1000G)
G=0.0003 (1/3854, ALSPAC)
G=0.0003 (1/3708, TWINSUK)
G=0.009 (5/534, MGP)
G=0.023 (5/216, Qatari)
C=0.38 (6/16, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TTLL10 : Missense Variant
Publications
0 citations
Genomic View
See rs on genome
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.p13 chr 1 NC_000001.11:g.1184990C>G
GRCh38.p13 chr 1 NC_000001.11:g.1184990C>T
GRCh37.p13 chr 1 NC_000001.10:g.1120370C>G
GRCh37.p13 chr 1 NC_000001.10:g.1120370C>T
Gene: TTLL10, tubulin tyrosine ligase like 10 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
TTLL10 transcript variant 2 NM_153254.3:c.1063C>G L [CTG] > V [GTG] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform 2 NP_694986.2:p.Leu355Val L (Leu) > V (Val) Missense Variant
TTLL10 transcript variant 2 NM_153254.3:c.1063C>T L [CTG] > L [TTG] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform 2 NP_694986.2:p.Leu355= L (Leu) > L (Leu) Synonymous Variant
TTLL10 transcript variant 1 NM_001130045.2:c.1282C>G L [CTG] > V [GTG] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform 1 NP_001123517.1:p.Leu428Val L (Leu) > V (Val) Missense Variant
TTLL10 transcript variant 1 NM_001130045.2:c.1282C>T L [CTG] > L [TTG] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform 1 NP_001123517.1:p.Leu428= L (Leu) > L (Leu) Synonymous Variant
TTLL10 transcript variant 3 NM_001371649.1:c.1282C>G L [CTG] > V [GTG] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform 1 NP_001358578.1:p.Leu428Val L (Leu) > V (Val) Missense Variant
TTLL10 transcript variant 3 NM_001371649.1:c.1282C>T L [CTG] > L [TTG] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform 1 NP_001358578.1:p.Leu428= L (Leu) > L (Leu) Synonymous Variant
TTLL10 transcript variant X10 XM_005244738.1:c.1063C>G L [CTG] > V [GTG] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X8 XP_005244795.1:p.Leu355Val L (Leu) > V (Val) Missense Variant
TTLL10 transcript variant X10 XM_005244738.1:c.1063C>T L [CTG] > L [TTG] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X8 XP_005244795.1:p.Leu355= L (Leu) > L (Leu) Synonymous Variant
TTLL10 transcript variant X1 XM_017000906.1:c.1201C>G L [CTG] > V [GTG] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X1 XP_016856395.1:p.Leu401Val L (Leu) > V (Val) Missense Variant
TTLL10 transcript variant X1 XM_017000906.1:c.1201C>T L [CTG] > L [TTG] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X1 XP_016856395.1:p.Leu401= L (Leu) > L (Leu) Synonymous Variant
TTLL10 transcript variant X2 XM_017000907.1:c.1282C>G L [CTG] > V [GTG] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X2 XP_016856396.1:p.Leu428Val L (Leu) > V (Val) Missense Variant
TTLL10 transcript variant X2 XM_017000907.1:c.1282C>T L [CTG] > L [TTG] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X2 XP_016856396.1:p.Leu428= L (Leu) > L (Leu) Synonymous Variant
TTLL10 transcript variant X3 XM_017000908.1:c.1282C>G L [CTG] > V [GTG] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X3 XP_016856397.1:p.Leu428Val L (Leu) > V (Val) Missense Variant
TTLL10 transcript variant X3 XM_017000908.1:c.1282C>T L [CTG] > L [TTG] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X3 XP_016856397.1:p.Leu428= L (Leu) > L (Leu) Synonymous Variant
TTLL10 transcript variant X4 XM_017000909.1:c.1282C>G L [CTG] > V [GTG] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X4 XP_016856398.1:p.Leu428Val L (Leu) > V (Val) Missense Variant
TTLL10 transcript variant X4 XM_017000909.1:c.1282C>T L [CTG] > L [TTG] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X4 XP_016856398.1:p.Leu428= L (Leu) > L (Leu) Synonymous Variant
TTLL10 transcript variant X6 XM_017000911.1:c.1282C>G L [CTG] > V [GTG] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X6 XP_016856400.1:p.Leu428Val L (Leu) > V (Val) Missense Variant
TTLL10 transcript variant X6 XM_017000911.1:c.1282C>T L [CTG] > L [TTG] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X6 XP_016856400.1:p.Leu428= L (Leu) > L (Leu) Synonymous Variant
TTLL10 transcript variant X7 XM_011541177.2:c.1282C>G L [CTG] > V [GTG] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X7 XP_011539479.1:p.Leu428Val L (Leu) > V (Val) Missense Variant
TTLL10 transcript variant X7 XM_011541177.2:c.1282C>T L [CTG] > L [TTG] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X7 XP_011539479.1:p.Leu428= L (Leu) > L (Leu) Synonymous Variant
TTLL10 transcript variant X8 XM_017000912.1:c.1282C>G L [CTG] > V [GTG] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X7 XP_016856401.1:p.Leu428Val L (Leu) > V (Val) Missense Variant
TTLL10 transcript variant X8 XM_017000912.1:c.1282C>T L [CTG] > L [TTG] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X7 XP_016856401.1:p.Leu428= L (Leu) > L (Leu) Synonymous Variant
TTLL10 transcript variant X5 XM_017000910.2:c.1282C>G L [CTG] > V [GTG] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X5 XP_016856399.1:p.Leu428Val L (Leu) > V (Val) Missense Variant
TTLL10 transcript variant X5 XM_017000910.2:c.1282C>T L [CTG] > L [TTG] Coding Sequence Variant
inactive polyglycylase TTLL10 isoform X5 XP_016856399.1:p.Leu428= L (Leu) > L (Leu) Synonymous Variant
TTLL10 transcript variant X9 XR_001737088.1:n.1609C>G N/A Non Coding Transcript Variant
TTLL10 transcript variant X9 XR_001737088.1:n.1609C>T N/A Non Coding Transcript Variant
TTLL10 transcript variant X11 XR_001737089.1:n. N/A Genic Downstream 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

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 44306 C=0.99849 G=0.00151, T=0.00000
European Sub 32824 C=0.99960 G=0.00040, T=0.00000
African Sub 3066 C=0.9938 G=0.0062, T=0.0000
African Others Sub 102 C=0.990 G=0.010, T=0.000
African American Sub 2964 C=0.9939 G=0.0061, T=0.0000
Asian Sub 168 C=1.000 G=0.000, T=0.000
East Asian Sub 112 C=1.000 G=0.000, T=0.000
Other Asian Sub 56 C=1.00 G=0.00, T=0.00
Latin American 1 Sub 490 C=0.967 G=0.033, T=0.000
Latin American 2 Sub 620 C=0.998 G=0.002, T=0.000
South Asian Sub 98 C=1.00 G=0.00, T=0.00
Other Sub 7040 C=0.9974 G=0.0026, T=0.0000


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
gnomAD - Exomes Global Study-wide 249180 C=0.993053 G=0.006947
gnomAD - Exomes European Sub 134042 C=0.999627 G=0.000373
gnomAD - Exomes Asian Sub 48784 C=0.99988 G=0.00012
gnomAD - Exomes American Sub 34326 C=0.99444 G=0.00556
gnomAD - Exomes African Sub 15938 C=0.90915 G=0.09085
gnomAD - Exomes Ashkenazi Jewish Sub 10008 C=0.99900 G=0.00100
gnomAD - Exomes Other Sub 6082 C=0.9957 G=0.0043
ExAC Global Study-wide 103466 C=0.990026 G=0.009974
ExAC Europe Sub 62458 C=0.99952 G=0.00048
ExAC Asian Sub 21692 C=0.99977 G=0.00023
ExAC American Sub 9676 C=0.9942 G=0.0058
ExAC African Sub 8918 C=0.8950 G=0.1050
ExAC Other Sub 722 C=0.993 G=0.007
The PAGE Study Global Study-wide 78592 C=0.95712 G=0.04288
The PAGE Study AfricanAmerican Sub 32454 C=0.91342 G=0.08658
The PAGE Study Mexican Sub 10810 C=0.99436 G=0.00564
The PAGE Study Asian Sub 8298 C=0.9999 G=0.0001
The PAGE Study PuertoRican Sub 7912 C=0.9795 G=0.0205
The PAGE Study NativeHawaiian Sub 4524 C=0.9991 G=0.0009
The PAGE Study Cuban Sub 4226 C=0.9853 G=0.0147
The PAGE Study Dominican Sub 3822 C=0.9534 G=0.0466
The PAGE Study CentralAmerican Sub 2450 C=0.9812 G=0.0188
The PAGE Study SouthAmerican Sub 1982 C=0.9879 G=0.0121
The PAGE Study NativeAmerican Sub 1258 C=0.9825 G=0.0175
The PAGE Study SouthAsian Sub 856 C=1.000 G=0.000
GO Exome Sequencing Project Global Study-wide 13004 C=0.97139 G=0.02861
GO Exome Sequencing Project European American Sub 8598 C=0.9999 G=0.0001
GO Exome Sequencing Project African American Sub 4406 C=0.9158 G=0.0842
1000Genomes Global Study-wide 5008 C=0.9726 G=0.0274
1000Genomes African Sub 1322 C=0.8994 G=0.1006
1000Genomes East Asian Sub 1008 C=1.0000 G=0.0000
1000Genomes Europe Sub 1006 C=1.0000 G=0.0000
1000Genomes South Asian Sub 978 C=1.000 G=0.000
1000Genomes American Sub 694 C=0.994 G=0.006
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.9997 G=0.0003
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.9997 G=0.0003
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.991 G=0.009
Qatari Global Study-wide 216 C=0.977 G=0.023
SGDP_PRJ Global Study-wide 16 C=0.38 G=0.62
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 C= G T
GRCh38.p13 chr 1 NC_000001.11:g.1184990= NC_000001.11:g.1184990C>G NC_000001.11:g.1184990C>T
GRCh37.p13 chr 1 NC_000001.10:g.1120370= NC_000001.10:g.1120370C>G NC_000001.10:g.1120370C>T
TTLL10 transcript variant 2 NM_153254.3:c.1063= NM_153254.3:c.1063C>G NM_153254.3:c.1063C>T
TTLL10 transcript variant 2 NM_153254.2:c.1063= NM_153254.2:c.1063C>G NM_153254.2:c.1063C>T
TTLL10 transcript variant X7 XM_011541177.2:c.1282= XM_011541177.2:c.1282C>G XM_011541177.2:c.1282C>T
TTLL10 transcript variant 1 NM_001130045.2:c.1282= NM_001130045.2:c.1282C>G NM_001130045.2:c.1282C>T
TTLL10 transcript variant 1 NM_001130045.1:c.1282= NM_001130045.1:c.1282C>G NM_001130045.1:c.1282C>T
TTLL10 transcript variant X5 XM_017000910.2:c.1282= XM_017000910.2:c.1282C>G XM_017000910.2:c.1282C>T
TTLL10 transcript variant X1 XM_017000906.1:c.1201= XM_017000906.1:c.1201C>G XM_017000906.1:c.1201C>T
TTLL10 transcript variant 3 NM_001371649.1:c.1282= NM_001371649.1:c.1282C>G NM_001371649.1:c.1282C>T
TTLL10 transcript variant X8 XM_017000912.1:c.1282= XM_017000912.1:c.1282C>G XM_017000912.1:c.1282C>T
TTLL10 transcript variant X4 XM_017000909.1:c.1282= XM_017000909.1:c.1282C>G XM_017000909.1:c.1282C>T
TTLL10 transcript variant X10 XM_005244738.1:c.1063= XM_005244738.1:c.1063C>G XM_005244738.1:c.1063C>T
TTLL10 transcript variant X9 XR_001737088.1:n.1609= XR_001737088.1:n.1609C>G XR_001737088.1:n.1609C>T
TTLL10 transcript variant X3 XM_017000908.1:c.1282= XM_017000908.1:c.1282C>G XM_017000908.1:c.1282C>T
TTLL10 transcript variant X2 XM_017000907.1:c.1282= XM_017000907.1:c.1282C>G XM_017000907.1:c.1282C>T
TTLL10 transcript variant X6 XM_017000911.1:c.1282= XM_017000911.1:c.1282C>G XM_017000911.1:c.1282C>T
inactive polyglycylase TTLL10 isoform 2 NP_694986.2:p.Leu355= NP_694986.2:p.Leu355Val NP_694986.2:p.Leu355=
inactive polyglycylase TTLL10 isoform X7 XP_011539479.1:p.Leu428= XP_011539479.1:p.Leu428Val XP_011539479.1:p.Leu428=
inactive polyglycylase TTLL10 isoform 1 NP_001123517.1:p.Leu428= NP_001123517.1:p.Leu428Val NP_001123517.1:p.Leu428=
inactive polyglycylase TTLL10 isoform X5 XP_016856399.1:p.Leu428= XP_016856399.1:p.Leu428Val XP_016856399.1:p.Leu428=
inactive polyglycylase TTLL10 isoform X1 XP_016856395.1:p.Leu401= XP_016856395.1:p.Leu401Val XP_016856395.1:p.Leu401=
inactive polyglycylase TTLL10 isoform 1 NP_001358578.1:p.Leu428= NP_001358578.1:p.Leu428Val NP_001358578.1:p.Leu428=
inactive polyglycylase TTLL10 isoform X7 XP_016856401.1:p.Leu428= XP_016856401.1:p.Leu428Val XP_016856401.1:p.Leu428=
inactive polyglycylase TTLL10 isoform X4 XP_016856398.1:p.Leu428= XP_016856398.1:p.Leu428Val XP_016856398.1:p.Leu428=
inactive polyglycylase TTLL10 isoform X8 XP_005244795.1:p.Leu355= XP_005244795.1:p.Leu355Val XP_005244795.1:p.Leu355=
inactive polyglycylase TTLL10 isoform X3 XP_016856397.1:p.Leu428= XP_016856397.1:p.Leu428Val XP_016856397.1:p.Leu428=
inactive polyglycylase TTLL10 isoform X2 XP_016856396.1:p.Leu428= XP_016856396.1:p.Leu428Val XP_016856396.1:p.Leu428=
inactive polyglycylase TTLL10 isoform X6 XP_016856400.1:p.Leu428= XP_016856400.1:p.Leu428Val XP_016856400.1:p.Leu428=
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#.

54 SubSNP, 15 Frequency submissions
No Submitter Submission ID Date (Build)
1 ILLUMINA-UK ss118440631 Feb 14, 2009 (130)
2 SEATTLESEQ ss159695684 Dec 01, 2009 (131)
3 BUSHMAN ss197889696 Jul 04, 2010 (132)
4 1000GENOMES ss217405743 Jul 14, 2010 (132)
5 1000GENOMES ss217410895 Jul 14, 2010 (132)
6 1000GENOMES ss218192291 Jul 14, 2010 (132)
7 NHLBI-ESP ss341924435 May 09, 2011 (134)
8 1000GENOMES ss489714626 May 04, 2012 (137)
9 EXOME_CHIP ss491284077 May 04, 2012 (137)
10 ILLUMINA ss534050071 Sep 08, 2015 (146)
11 ILLUMINA ss780766236 Aug 21, 2014 (142)
12 ILLUMINA ss783445585 Aug 21, 2014 (142)
13 JMKIDD_LAB ss1067414451 Aug 21, 2014 (142)
14 1000GENOMES ss1289353170 Aug 21, 2014 (142)
15 EVA_UK10K_ALSPAC ss1599383856 Apr 01, 2015 (144)
16 EVA_UK10K_TWINSUK ss1642377889 Apr 01, 2015 (144)
17 EVA_EXAC ss1685226058 Apr 01, 2015 (144)
18 EVA_MGP ss1710883784 Apr 01, 2015 (144)
19 ILLUMINA ss1751863610 Sep 08, 2015 (146)
20 ILLUMINA ss1917721004 Feb 12, 2016 (147)
21 WEILL_CORNELL_DGM ss1917964781 Feb 12, 2016 (147)
22 ILLUMINA ss1945981838 Feb 12, 2016 (147)
23 ILLUMINA ss1958230927 Feb 12, 2016 (147)
24 ILLUMINA ss1958230928 Feb 12, 2016 (147)
25 HUMAN_LONGEVITY ss2159391933 Dec 20, 2016 (150)
26 TOPMED ss2321531149 Dec 20, 2016 (150)
27 GNOMAD ss2731000390 Nov 08, 2017 (151)
28 GNOMAD ss2746174400 Nov 08, 2017 (151)
29 GNOMAD ss2750679715 Nov 08, 2017 (151)
30 AFFY ss2984841294 Nov 08, 2017 (151)
31 ILLUMINA ss3021043882 Nov 08, 2017 (151)
32 ILLUMINA ss3021043883 Nov 08, 2017 (151)
33 TOPMED ss3066489011 Nov 08, 2017 (151)
34 TOPMED ss3066489012 Nov 08, 2017 (151)
35 ILLUMINA ss3626007219 Oct 11, 2018 (152)
36 ILLUMINA ss3626007220 Oct 11, 2018 (152)
37 ILLUMINA ss3634302109 Oct 11, 2018 (152)
38 ILLUMINA ss3640009475 Oct 11, 2018 (152)
39 ILLUMINA ss3644477702 Oct 11, 2018 (152)
40 ILLUMINA ss3651365936 Oct 11, 2018 (152)
41 ILLUMINA ss3651365937 Oct 11, 2018 (152)
42 ILLUMINA ss3653615060 Oct 11, 2018 (152)
43 EVA_DECODE ss3685999421 Jul 12, 2019 (153)
44 ILLUMINA ss3724988540 Jul 12, 2019 (153)
45 ILLUMINA ss3744337432 Jul 12, 2019 (153)
46 ILLUMINA ss3744603040 Jul 12, 2019 (153)
47 PAGE_CC ss3770778899 Jul 12, 2019 (153)
48 ILLUMINA ss3772104797 Jul 12, 2019 (153)
49 KHV_HUMAN_GENOMES ss3798747775 Jul 12, 2019 (153)
50 EVA ss3823543129 Apr 25, 2020 (154)
51 SGDP_PRJ ss3848005951 Apr 25, 2020 (154)
52 EVA ss3986091335 Apr 25, 2021 (155)
53 TOPMED ss4436540759 Apr 25, 2021 (155)
54 TOPMED ss4436540760 Apr 25, 2021 (155)
55 1000Genomes NC_000001.10 - 1120370 Oct 11, 2018 (152)
56 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 1120370 Oct 11, 2018 (152)
57 ExAC NC_000001.10 - 1120370 Oct 11, 2018 (152)
58 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 160038 (NC_000001.11:1184989:C:G 4094/140256)
Row 160039 (NC_000001.11:1184989:C:T 1/140262)

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

Submission ignored due to conflicting rows:
Row 160038 (NC_000001.11:1184989:C:G 4094/140256)
Row 160039 (NC_000001.11:1184989:C:T 1/140262)

- Apr 25, 2021 (155)
60 gnomAD - Exomes NC_000001.10 - 1120370 Jul 12, 2019 (153)
61 GO Exome Sequencing Project NC_000001.10 - 1120370 Oct 11, 2018 (152)
62 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 1120370 Apr 25, 2020 (154)
63 The PAGE Study NC_000001.11 - 1184990 Jul 12, 2019 (153)
64 Qatari NC_000001.10 - 1120370 Apr 25, 2020 (154)
65 SGDP_PRJ NC_000001.10 - 1120370 Apr 25, 2020 (154)
66 TopMed

Submission ignored due to conflicting rows:
Row 147094 (NC_000001.11:1184989:C:G 7842/264690)
Row 147095 (NC_000001.11:1184989:C:T 1/264690)

- Apr 25, 2021 (155)
67 TopMed

Submission ignored due to conflicting rows:
Row 147094 (NC_000001.11:1184989:C:G 7842/264690)
Row 147095 (NC_000001.11:1184989:C:T 1/264690)

- Apr 25, 2021 (155)
68 UK 10K study - Twins NC_000001.10 - 1120370 Oct 11, 2018 (152)
69 ALFA NC_000001.11 - 1184990 Apr 25, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss118440631, ss197889696, ss217405743, ss217410895 NC_000001.9:1110232:C:G NC_000001.11:1184989:C:G (self)
18355, 6300, 4399745, 15234, 1866, 536, 6711, 22931, 6300, ss218192291, ss341924435, ss489714626, ss491284077, ss534050071, ss780766236, ss783445585, ss1067414451, ss1289353170, ss1599383856, ss1642377889, ss1685226058, ss1710883784, ss1751863610, ss1917721004, ss1917964781, ss1945981838, ss1958230927, ss1958230928, ss2321531149, ss2731000390, ss2746174400, ss2750679715, ss2984841294, ss3021043882, ss3021043883, ss3626007219, ss3626007220, ss3634302109, ss3640009475, ss3644477702, ss3651365936, ss3651365937, ss3653615060, ss3744337432, ss3744603040, ss3772104797, ss3823543129, ss3848005951, ss3986091335 NC_000001.10:1120369:C:G NC_000001.11:1184989:C:G (self)
368, 84488, 9004996066, ss2159391933, ss3066489011, ss3685999421, ss3724988540, ss3770778899, ss3798747775, ss4436540759 NC_000001.11:1184989:C:G NC_000001.11:1184989:C:G (self)
ss159695684 NT_004350.19:599001:C:G NC_000001.11:1184989:C:G (self)
84488, 9004996066, ss3066489012, ss4436540760 NC_000001.11:1184989:C:T NC_000001.11:1184989:C:T (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 rs74046640

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.post596+ae089ad