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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.

rs2296225

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr1:20704549 (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
T>C / T>G
Variation Type
SNV Single Nucleotide Variation
Frequency
C=0.100268 (26540/264690, TOPMED)
C=0.091527 (21663/236684, ALFA)
C=0.090490 (12688/140214, GnomAD) (+ 18 more)
C=0.120200 (14579/121290, ExAC)
C=0.11544 (9055/78436, PAGE_STUDY)
C=0.25140 (4212/16754, 8.3KJPN)
C=0.08827 (1148/13006, GO-ESP)
C=0.1637 (820/5008, 1000G)
C=0.0547 (245/4480, Estonian)
C=0.0916 (353/3854, ALSPAC)
C=0.0895 (332/3708, TWINSUK)
C=0.3126 (916/2930, KOREAN)
C=0.1601 (301/1880, HapMap)
C=0.294 (224/762, PRJEB37584)
C=0.047 (28/600, NorthernSweden)
C=0.084 (45/534, MGP)
C=0.046 (14/304, FINRISK)
C=0.120 (26/216, Qatari)
T=0.435 (74/170, SGDP_PRJ)
C=0.07 (3/40, GENOME_DK)
T=0.4 (3/8, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
KIF17 : Missense Variant
Publications
1 citation
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.20704549T>C
GRCh38.p13 chr 1 NC_000001.11:g.20704549T>G
GRCh37.p13 chr 1 NC_000001.10:g.21031042T>C
GRCh37.p13 chr 1 NC_000001.10:g.21031042T>G
Gene: KIF17, kinesin family member 17 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
KIF17 transcript variant 2 NM_001122819.3:c.1021A>G I [ATC] > V [GTC] Coding Sequence Variant
kinesin-like protein KIF17 isoform b NP_001116291.1:p.Ile341Val I (Ile) > V (Val) Missense Variant
KIF17 transcript variant 2 NM_001122819.3:c.1021A>C I [ATC] > L [CTC] Coding Sequence Variant
kinesin-like protein KIF17 isoform b NP_001116291.1:p.Ile341Leu I (Ile) > L (Leu) Missense Variant
KIF17 transcript variant 3 NM_001287212.2:c.721A>G I [ATC] > V [GTC] Coding Sequence Variant
kinesin-like protein KIF17 isoform c NP_001274141.1:p.Ile241Val I (Ile) > V (Val) Missense Variant
KIF17 transcript variant 3 NM_001287212.2:c.721A>C I [ATC] > L [CTC] Coding Sequence Variant
kinesin-like protein KIF17 isoform c NP_001274141.1:p.Ile241Leu I (Ile) > L (Leu) Missense Variant
KIF17 transcript variant 1 NM_020816.4:c.1021A>G I [ATC] > V [GTC] Coding Sequence Variant
kinesin-like protein KIF17 isoform a NP_065867.2:p.Ile341Val I (Ile) > V (Val) Missense Variant
KIF17 transcript variant 1 NM_020816.4:c.1021A>C I [ATC] > L [CTC] Coding Sequence Variant
kinesin-like protein KIF17 isoform a NP_065867.2:p.Ile341Leu I (Ile) > L (Leu) Missense 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 236684 T=0.908473 C=0.091527
European Sub 199896 T=0.915451 C=0.084549
African Sub 7498 T=0.8990 C=0.1010
African Others Sub 252 T=0.913 C=0.087
African American Sub 7246 T=0.8986 C=0.1014
Asian Sub 3630 T=0.6848 C=0.3152
East Asian Sub 2286 T=0.6811 C=0.3189
Other Asian Sub 1344 T=0.6912 C=0.3088
Latin American 1 Sub 1078 T=0.9082 C=0.0918
Latin American 2 Sub 6278 T=0.9124 C=0.0876
South Asian Sub 168 T=0.798 C=0.202
Other Sub 18136 T=0.87991 C=0.12009


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
TopMed Global Study-wide 264690 T=0.899732 C=0.100268
gnomAD - Genomes Global Study-wide 140214 T=0.909510 C=0.090490
gnomAD - Genomes European Sub 75924 T=0.91946 C=0.08054
gnomAD - Genomes African Sub 42034 T=0.90182 C=0.09818
gnomAD - Genomes American Sub 13656 T=0.92436 C=0.07564
gnomAD - Genomes Ashkenazi Jewish Sub 3324 T=0.9422 C=0.0578
gnomAD - Genomes East Asian Sub 3124 T=0.6767 C=0.3233
gnomAD - Genomes Other Sub 2152 T=0.9020 C=0.0980
ExAC Global Study-wide 121290 T=0.879800 C=0.120200
ExAC Europe Sub 73282 T=0.92446 C=0.07554
ExAC Asian Sub 25132 T=0.72601 C=0.27399
ExAC American Sub 11570 T=0.91046 C=0.08954
ExAC African Sub 10398 T=0.90267 C=0.09733
ExAC Other Sub 908 T=0.880 C=0.120
The PAGE Study Global Study-wide 78436 T=0.88456 C=0.11544
The PAGE Study AfricanAmerican Sub 32358 T=0.90225 C=0.09775
The PAGE Study Mexican Sub 10796 T=0.90895 C=0.09105
The PAGE Study Asian Sub 8300 T=0.7351 C=0.2649
The PAGE Study PuertoRican Sub 7892 T=0.9214 C=0.0786
The PAGE Study NativeHawaiian Sub 4520 T=0.8673 C=0.1327
The PAGE Study Cuban Sub 4220 T=0.9073 C=0.0927
The PAGE Study Dominican Sub 3814 T=0.9048 C=0.0952
The PAGE Study CentralAmerican Sub 2448 T=0.9150 C=0.0850
The PAGE Study SouthAmerican Sub 1982 T=0.9233 C=0.0767
The PAGE Study NativeAmerican Sub 1256 T=0.8965 C=0.1035
The PAGE Study SouthAsian Sub 850 T=0.711 C=0.289
8.3KJPN JAPANESE Study-wide 16754 T=0.74860 C=0.25140
GO Exome Sequencing Project Global Study-wide 13006 T=0.91173 C=0.08827
GO Exome Sequencing Project European American Sub 8600 T=0.9163 C=0.0837
GO Exome Sequencing Project African American Sub 4406 T=0.9029 C=0.0971
1000Genomes Global Study-wide 5008 T=0.8363 C=0.1637
1000Genomes African Sub 1322 T=0.8979 C=0.1021
1000Genomes East Asian Sub 1008 T=0.7073 C=0.2927
1000Genomes Europe Sub 1006 T=0.9085 C=0.0915
1000Genomes South Asian Sub 978 T=0.739 C=0.261
1000Genomes American Sub 694 T=0.938 C=0.062
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.9453 C=0.0547
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.9084 C=0.0916
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.9105 C=0.0895
KOREAN population from KRGDB KOREAN Study-wide 2930 T=0.6874 C=0.3126
HapMap Global Study-wide 1880 T=0.8399 C=0.1601
HapMap American Sub 762 T=0.812 C=0.188
HapMap African Sub 690 T=0.899 C=0.101
HapMap Asian Sub 252 T=0.726 C=0.274
HapMap Europe Sub 176 T=0.892 C=0.108
CNV burdens in cranial meningiomas Global Study-wide 762 T=0.706 C=0.294
CNV burdens in cranial meningiomas CRM Sub 762 T=0.706 C=0.294
Northern Sweden ACPOP Study-wide 600 T=0.953 C=0.047
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 T=0.916 C=0.084
FINRISK Finnish from FINRISK project Study-wide 304 T=0.954 C=0.046
Qatari Global Study-wide 216 T=0.880 C=0.120
SGDP_PRJ Global Study-wide 170 T=0.435 C=0.565
The Danish reference pan genome Danish Study-wide 40 T=0.93 C=0.07
Siberian Global Study-wide 8 T=0.4 C=0.6
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= C G
GRCh38.p13 chr 1 NC_000001.11:g.20704549= NC_000001.11:g.20704549T>C NC_000001.11:g.20704549T>G
GRCh37.p13 chr 1 NC_000001.10:g.21031042= NC_000001.10:g.21031042T>C NC_000001.10:g.21031042T>G
KIF17 transcript variant 1 NM_020816.4:c.1021= NM_020816.4:c.1021A>G NM_020816.4:c.1021A>C
KIF17 transcript variant 1 NM_020816.3:c.1021= NM_020816.3:c.1021A>G NM_020816.3:c.1021A>C
KIF17 transcript variant 1 NM_020816.2:c.1021= NM_020816.2:c.1021A>G NM_020816.2:c.1021A>C
KIF17 transcript variant 2 NM_001122819.3:c.1021= NM_001122819.3:c.1021A>G NM_001122819.3:c.1021A>C
KIF17 transcript variant 2 NM_001122819.2:c.1021= NM_001122819.2:c.1021A>G NM_001122819.2:c.1021A>C
KIF17 transcript variant 2 NM_001122819.1:c.1021= NM_001122819.1:c.1021A>G NM_001122819.1:c.1021A>C
KIF17 transcript variant 3 NM_001287212.2:c.721= NM_001287212.2:c.721A>G NM_001287212.2:c.721A>C
KIF17 transcript variant 3 NM_001287212.1:c.721= NM_001287212.1:c.721A>G NM_001287212.1:c.721A>C
kinesin-like protein KIF17 isoform a NP_065867.2:p.Ile341= NP_065867.2:p.Ile341Val NP_065867.2:p.Ile341Leu
kinesin-like protein KIF17 isoform b NP_001116291.1:p.Ile341= NP_001116291.1:p.Ile341Val NP_001116291.1:p.Ile341Leu
kinesin-like protein KIF17 isoform c NP_001274141.1:p.Ile241= NP_001274141.1:p.Ile241Val NP_001274141.1:p.Ile241Leu
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#.

126 SubSNP, 23 Frequency submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss3240261 Sep 28, 2001 (100)
2 APPLERA_GI ss48429787 Mar 15, 2006 (126)
3 PERLEGEN ss68760858 May 18, 2007 (127)
4 AFFY ss74807651 Aug 16, 2007 (128)
5 ILLUMINA ss74871872 Dec 07, 2007 (129)
6 SI_EXO ss76886756 Dec 07, 2007 (129)
7 GMI ss154739585 Dec 01, 2009 (131)
8 SEATTLESEQ ss159696548 Dec 01, 2009 (131)
9 ILLUMINA ss160532063 Dec 01, 2009 (131)
10 ILLUMINA ss173267251 Jul 04, 2010 (132)
11 BUSHMAN ss198137007 Jul 04, 2010 (132)
12 1000GENOMES ss217314496 Jul 14, 2010 (132)
13 1000GENOMES ss217390959 Jul 14, 2010 (132)
14 1000GENOMES ss217392208 Jul 14, 2010 (132)
15 1000GENOMES ss217400094 Jul 14, 2010 (132)
16 1000GENOMES ss217406095 Jul 14, 2010 (132)
17 1000GENOMES ss217410628 Jul 14, 2010 (132)
18 1000GENOMES ss217411208 Jul 14, 2010 (132)
19 1000GENOMES ss218274035 Jul 14, 2010 (132)
20 1000GENOMES ss230455134 Jul 14, 2010 (132)
21 1000GENOMES ss238164713 Jul 15, 2010 (132)
22 GMI ss275745804 May 04, 2012 (137)
23 NHLBI-ESP ss341941936 May 09, 2011 (134)
24 ILLUMINA ss410921820 Sep 17, 2011 (135)
25 ILLUMINA ss480517826 May 04, 2012 (137)
26 ILLUMINA ss480532026 May 04, 2012 (137)
27 ILLUMINA ss481342726 Sep 08, 2015 (146)
28 ILLUMINA ss485056272 May 04, 2012 (137)
29 1000GENOMES ss489726700 May 04, 2012 (137)
30 EXOME_CHIP ss491288504 May 04, 2012 (137)
31 CLINSEQ_SNP ss491587977 May 04, 2012 (137)
32 ILLUMINA ss537073050 Sep 08, 2015 (146)
33 TISHKOFF ss553871183 Apr 25, 2013 (138)
34 SSMP ss647627664 Apr 25, 2013 (138)
35 ILLUMINA ss779038726 Aug 21, 2014 (142)
36 ILLUMINA ss780811548 Aug 21, 2014 (142)
37 ILLUMINA ss782974347 Aug 21, 2014 (142)
38 ILLUMINA ss783493435 Aug 21, 2014 (142)
39 ILLUMINA ss783935643 Aug 21, 2014 (142)
40 ILLUMINA ss832230724 Apr 01, 2015 (144)
41 ILLUMINA ss834501534 Aug 21, 2014 (142)
42 JMKIDD_LAB ss974433782 Aug 21, 2014 (142)
43 EVA-GONL ss974927132 Aug 21, 2014 (142)
44 JMKIDD_LAB ss1067417605 Aug 21, 2014 (142)
45 JMKIDD_LAB ss1067721692 Aug 21, 2014 (142)
46 1000GENOMES ss1289961618 Aug 21, 2014 (142)
47 DDI ss1425739206 Apr 01, 2015 (144)
48 EVA_GENOME_DK ss1573929567 Apr 01, 2015 (144)
49 EVA_FINRISK ss1584005583 Apr 01, 2015 (144)
50 EVA_DECODE ss1584285383 Apr 01, 2015 (144)
51 EVA_UK10K_ALSPAC ss1599688738 Apr 01, 2015 (144)
52 EVA_UK10K_TWINSUK ss1642682771 Apr 01, 2015 (144)
53 EVA_EXAC ss1685368816 Apr 01, 2015 (144)
54 EVA_MGP ss1710893886 Apr 01, 2015 (144)
55 EVA_SVP ss1712316632 Apr 01, 2015 (144)
56 ILLUMINA ss1751896036 Sep 08, 2015 (146)
57 ILLUMINA ss1751896037 Sep 08, 2015 (146)
58 HAMMER_LAB ss1794033718 Sep 08, 2015 (146)
59 ILLUMINA ss1917724240 Feb 12, 2016 (147)
60 WEILL_CORNELL_DGM ss1918138976 Feb 12, 2016 (147)
61 ILLUMINA ss1945987366 Feb 12, 2016 (147)
62 ILLUMINA ss1958250607 Feb 12, 2016 (147)
63 JJLAB ss2019581298 Sep 14, 2016 (149)
64 USC_VALOUEV ss2147585000 Dec 20, 2016 (150)
65 HUMAN_LONGEVITY ss2160573743 Dec 20, 2016 (150)
66 TOPMED ss2322755972 Dec 20, 2016 (150)
67 SYSTEMSBIOZJU ss2624307124 Nov 08, 2017 (151)
68 ILLUMINA ss2632487479 Nov 08, 2017 (151)
69 GRF ss2697489622 Nov 08, 2017 (151)
70 GNOMAD ss2731219278 Nov 08, 2017 (151)
71 GNOMAD ss2746248400 Nov 08, 2017 (151)
72 GNOMAD ss2752449668 Nov 08, 2017 (151)
73 AFFY ss2984848636 Nov 08, 2017 (151)
74 SWEGEN ss2986434453 Nov 08, 2017 (151)
75 ILLUMINA ss3021064039 Nov 08, 2017 (151)
76 BIOINF_KMB_FNS_UNIBA ss3023555993 Nov 08, 2017 (151)
77 TOPMED ss3070428859 Nov 08, 2017 (151)
78 CSHL ss3343358392 Nov 08, 2017 (151)
79 ILLUMINA ss3626043934 Oct 11, 2018 (152)
80 ILLUMINA ss3626043935 Oct 11, 2018 (152)
81 ILLUMINA ss3630525260 Oct 11, 2018 (152)
82 ILLUMINA ss3633577679 Oct 11, 2018 (152)
83 ILLUMINA ss3634311465 Oct 11, 2018 (152)
84 ILLUMINA ss3634311466 Oct 11, 2018 (152)
85 ILLUMINA ss3635271727 Oct 11, 2018 (152)
86 ILLUMINA ss3635987681 Oct 11, 2018 (152)
87 ILLUMINA ss3637022109 Oct 11, 2018 (152)
88 ILLUMINA ss3637741869 Oct 11, 2018 (152)
89 ILLUMINA ss3640018829 Oct 11, 2018 (152)
90 ILLUMINA ss3640018830 Oct 11, 2018 (152)
91 ILLUMINA ss3642755293 Oct 11, 2018 (152)
92 ILLUMINA ss3644483224 Oct 11, 2018 (152)
93 OMUKHERJEE_ADBS ss3646226230 Oct 11, 2018 (152)
94 ILLUMINA ss3651388988 Oct 11, 2018 (152)
95 ILLUMINA ss3653622429 Oct 11, 2018 (152)
96 EGCUT_WGS ss3654504863 Jul 12, 2019 (153)
97 EVA_DECODE ss3686307070 Jul 12, 2019 (153)
98 ILLUMINA ss3725003897 Jul 12, 2019 (153)
99 ACPOP ss3726853020 Jul 12, 2019 (153)
100 ILLUMINA ss3744340988 Jul 12, 2019 (153)
101 ILLUMINA ss3744612425 Jul 12, 2019 (153)
102 ILLUMINA ss3744612426 Jul 12, 2019 (153)
103 EVA ss3745918091 Jul 12, 2019 (153)
104 PAGE_CC ss3770791597 Jul 12, 2019 (153)
105 ILLUMINA ss3772113991 Jul 12, 2019 (153)
106 ILLUMINA ss3772113992 Jul 12, 2019 (153)
107 PACBIO ss3783347216 Jul 12, 2019 (153)
108 PACBIO ss3789017774 Jul 12, 2019 (153)
109 PACBIO ss3793890250 Jul 12, 2019 (153)
110 KHV_HUMAN_GENOMES ss3798937796 Jul 12, 2019 (153)
111 EVA ss3823573196 Apr 25, 2020 (154)
112 EVA ss3825556538 Apr 25, 2020 (154)
113 EVA ss3826061121 Apr 25, 2020 (154)
114 EVA ss3836418746 Apr 25, 2020 (154)
115 EVA ss3841823205 Apr 25, 2020 (154)
116 SGDP_PRJ ss3848366222 Apr 25, 2020 (154)
117 KRGDB ss3893275288 Apr 25, 2020 (154)
118 FSA-LAB ss3983921295 Apr 27, 2021 (155)
119 FSA-LAB ss3983921296 Apr 27, 2021 (155)
120 EVA ss3984453486 Apr 27, 2021 (155)
121 EVA ss3986009517 Apr 27, 2021 (155)
122 EVA ss3986105351 Apr 27, 2021 (155)
123 TOPMED ss4441487482 Apr 27, 2021 (155)
124 TOMMO_GENOMICS ss5142837858 Apr 27, 2021 (155)
125 EVA ss5236865766 Apr 27, 2021 (155)
126 EVA ss5237261639 Apr 27, 2021 (155)
127 1000Genomes NC_000001.10 - 21031042 Oct 11, 2018 (152)
128 The Avon Longitudinal Study of Parents and Children NC_000001.10 - 21031042 Oct 11, 2018 (152)
129 Genetic variation in the Estonian population NC_000001.10 - 21031042 Oct 11, 2018 (152)
130 ExAC NC_000001.10 - 21031042 Oct 11, 2018 (152)
131 FINRISK NC_000001.10 - 21031042 Apr 25, 2020 (154)
132 The Danish reference pan genome NC_000001.10 - 21031042 Apr 25, 2020 (154)
133 gnomAD - Genomes NC_000001.11 - 20704549 Apr 27, 2021 (155)
134 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 232830 (NC_000001.10:21031041:T:T 221850/251444, NC_000001.10:21031041:T:C 29594/251444)
Row 232831 (NC_000001.10:21031041:T:T 251443/251444, NC_000001.10:21031041:T:G 1/251444)

- Jul 12, 2019 (153)
135 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 232830 (NC_000001.10:21031041:T:T 221850/251444, NC_000001.10:21031041:T:C 29594/251444)
Row 232831 (NC_000001.10:21031041:T:T 251443/251444, NC_000001.10:21031041:T:G 1/251444)

- Jul 12, 2019 (153)
136 GO Exome Sequencing Project NC_000001.10 - 21031042 Oct 11, 2018 (152)
137 HapMap NC_000001.11 - 20704549 Apr 25, 2020 (154)
138 KOREAN population from KRGDB NC_000001.10 - 21031042 Apr 25, 2020 (154)
139 Medical Genome Project healthy controls from Spanish population NC_000001.10 - 21031042 Apr 25, 2020 (154)
140 Northern Sweden NC_000001.10 - 21031042 Jul 12, 2019 (153)
141 The PAGE Study NC_000001.11 - 20704549 Jul 12, 2019 (153)
142 CNV burdens in cranial meningiomas NC_000001.10 - 21031042 Apr 27, 2021 (155)
143 Qatari NC_000001.10 - 21031042 Apr 25, 2020 (154)
144 SGDP_PRJ NC_000001.10 - 21031042 Apr 25, 2020 (154)
145 Siberian NC_000001.10 - 21031042 Apr 25, 2020 (154)
146 8.3KJPN NC_000001.10 - 21031042 Apr 27, 2021 (155)
147 TopMed NC_000001.11 - 20704549 Apr 27, 2021 (155)
148 UK 10K study - Twins NC_000001.10 - 21031042 Oct 11, 2018 (152)
149 ALFA NC_000001.11 - 20704549 Apr 27, 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)
rs52834908 Sep 21, 2007 (128)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss160532063, ss198137007, ss217314496, ss217390959, ss217392208, ss217400094, ss217406095, ss217410628, ss217411208, ss275745804, ss410921820, ss480517826, ss491587977, ss1584285383, ss1712316632, ss3642755293 NC_000001.9:20903628:T:C NC_000001.11:20704548:T:C (self)
646988, 341323, 243111, 4552480, 2044, 1418608, 31908, 452682, 10638, 137885, 2788, 180906, 383202, 101354, 807165, 341323, ss218274035, ss230455134, ss238164713, ss341941936, ss480532026, ss481342726, ss485056272, ss489726700, ss491288504, ss537073050, ss553871183, ss647627664, ss779038726, ss780811548, ss782974347, ss783493435, ss783935643, ss832230724, ss834501534, ss974433782, ss974927132, ss1067417605, ss1067721692, ss1289961618, ss1425739206, ss1573929567, ss1584005583, ss1599688738, ss1642682771, ss1685368816, ss1710893886, ss1751896036, ss1751896037, ss1794033718, ss1917724240, ss1918138976, ss1945987366, ss1958250607, ss2019581298, ss2147585000, ss2322755972, ss2624307124, ss2632487479, ss2697489622, ss2731219278, ss2746248400, ss2752449668, ss2984848636, ss2986434453, ss3021064039, ss3343358392, ss3626043934, ss3626043935, ss3630525260, ss3633577679, ss3634311465, ss3634311466, ss3635271727, ss3635987681, ss3637022109, ss3637741869, ss3640018829, ss3640018830, ss3644483224, ss3646226230, ss3651388988, ss3653622429, ss3654504863, ss3726853020, ss3744340988, ss3744612425, ss3744612426, ss3745918091, ss3772113991, ss3772113992, ss3783347216, ss3789017774, ss3793890250, ss3823573196, ss3825556538, ss3826061121, ss3836418746, ss3848366222, ss3893275288, ss3983921295, ss3983921296, ss3984453486, ss3986009517, ss3986105351, ss5142837858, ss5237261639 NC_000001.10:21031041:T:C NC_000001.11:20704548:T:C (self)
4489536, 26769, 13066, 3201194, 5093817, 3009983577, ss2160573743, ss3023555993, ss3070428859, ss3686307070, ss3725003897, ss3770791597, ss3798937796, ss3841823205, ss4441487482, ss5236865766 NC_000001.11:20704548:T:C NC_000001.11:20704548:T:C (self)
ss76886756 NT_004610.18:3855383:T:C NC_000001.11:20704548:T:C (self)
ss3240261, ss48429787, ss68760858, ss74807651, ss74871872, ss154739585, ss159696548, ss173267251 NT_004610.19:7711129:T:C NC_000001.11:20704548:T:C (self)
ss2731219278 NC_000001.10:21031041:T:G NC_000001.11:20704548:T:G (self)
Help

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

1 citation for rs2296225
PMID Title Author Year Journal
26421900 A decrease in protein level and a missense polymorphism of KIF17 are associated with schizophrenia. Ratta-Apha W et al. 2015 Psychiatry research
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