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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.

rs163233

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr5:34859120 (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
G>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.373766 (98932/264690, TOPMED)
A=0.368971 (51622/139908, GnomAD)
A=0.32461 (21528/66320, ALFA) (+ 19 more)
A=0.15599 (4408/28258, 14KJPN)
A=0.15692 (2630/16760, 8.3KJPN)
A=0.3556 (2277/6404, 1000G_30x)
A=0.3530 (1768/5008, 1000G)
A=0.3038 (1361/4480, Estonian)
A=0.3293 (1269/3854, ALSPAC)
A=0.3004 (1114/3708, TWINSUK)
A=0.2043 (597/2922, KOREAN)
A=0.3033 (632/2084, HGDP_Stanford)
A=0.3817 (710/1860, HapMap)
A=0.1889 (346/1832, Korea1K)
A=0.308 (307/998, GoNL)
A=0.387 (232/600, NorthernSweden)
G=0.389 (112/288, SGDP_PRJ)
A=0.435 (94/216, Qatari)
A=0.271 (57/210, Vietnamese)
A=0.29 (24/82, Ancient Sardinia)
A=0.25 (10/40, GENOME_DK)
G=0.33 (6/18, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
TTC23L : Intron Variant
LOC124900959 : 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 66320 G=0.67539 A=0.32461
European Sub 53862 G=0.68889 A=0.31111
African Sub 4480 G=0.5020 A=0.4980
African Others Sub 170 G=0.453 A=0.547
African American Sub 4310 G=0.5039 A=0.4961
Asian Sub 180 G=0.700 A=0.300
East Asian Sub 142 G=0.754 A=0.246
Other Asian Sub 38 G=0.50 A=0.50
Latin American 1 Sub 250 G=0.700 A=0.300
Latin American 2 Sub 1226 G=0.6591 A=0.3409
South Asian Sub 4932 G=0.6993 A=0.3007
Other Sub 1390 G=0.6331 A=0.3669


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 G=0.626234 A=0.373766
gnomAD - Genomes Global Study-wide 139908 G=0.631029 A=0.368971
gnomAD - Genomes European Sub 75816 G=0.69803 A=0.30197
gnomAD - Genomes African Sub 41864 G=0.48877 A=0.51123
gnomAD - Genomes American Sub 13628 G=0.65916 A=0.34084
gnomAD - Genomes Ashkenazi Jewish Sub 3322 G=0.6677 A=0.3323
gnomAD - Genomes East Asian Sub 3130 G=0.7470 A=0.2530
gnomAD - Genomes Other Sub 2148 G=0.6345 A=0.3655
Allele Frequency Aggregator Total Global 66320 G=0.67539 A=0.32461
Allele Frequency Aggregator European Sub 53862 G=0.68889 A=0.31111
Allele Frequency Aggregator South Asian Sub 4932 G=0.6993 A=0.3007
Allele Frequency Aggregator African Sub 4480 G=0.5020 A=0.4980
Allele Frequency Aggregator Other Sub 1390 G=0.6331 A=0.3669
Allele Frequency Aggregator Latin American 2 Sub 1226 G=0.6591 A=0.3409
Allele Frequency Aggregator Latin American 1 Sub 250 G=0.700 A=0.300
Allele Frequency Aggregator Asian Sub 180 G=0.700 A=0.300
14KJPN JAPANESE Study-wide 28258 G=0.84401 A=0.15599
8.3KJPN JAPANESE Study-wide 16760 G=0.84308 A=0.15692
1000Genomes_30x Global Study-wide 6404 G=0.6444 A=0.3556
1000Genomes_30x African Sub 1786 G=0.4966 A=0.5034
1000Genomes_30x Europe Sub 1266 G=0.6651 A=0.3349
1000Genomes_30x South Asian Sub 1202 G=0.6897 A=0.3103
1000Genomes_30x East Asian Sub 1170 G=0.7513 A=0.2487
1000Genomes_30x American Sub 980 G=0.704 A=0.296
1000Genomes Global Study-wide 5008 G=0.6470 A=0.3530
1000Genomes African Sub 1322 G=0.4864 A=0.5136
1000Genomes East Asian Sub 1008 G=0.7609 A=0.2391
1000Genomes Europe Sub 1006 G=0.6620 A=0.3380
1000Genomes South Asian Sub 978 G=0.693 A=0.307
1000Genomes American Sub 694 G=0.700 A=0.300
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.6962 A=0.3038
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.6707 A=0.3293
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.6996 A=0.3004
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.7957 A=0.2043
HGDP-CEPH-db Supplement 1 Global Study-wide 2084 G=0.6967 A=0.3033
HGDP-CEPH-db Supplement 1 Est_Asia Sub 470 G=0.813 A=0.187
HGDP-CEPH-db Supplement 1 Central_South_Asia Sub 414 G=0.727 A=0.273
HGDP-CEPH-db Supplement 1 Middle_Est Sub 350 G=0.600 A=0.400
HGDP-CEPH-db Supplement 1 Europe Sub 320 G=0.694 A=0.306
HGDP-CEPH-db Supplement 1 Africa Sub 242 G=0.550 A=0.450
HGDP-CEPH-db Supplement 1 America Sub 216 G=0.657 A=0.343
HGDP-CEPH-db Supplement 1 Oceania Sub 72 G=0.86 A=0.14
HapMap Global Study-wide 1860 G=0.6183 A=0.3817
HapMap American Sub 756 G=0.679 A=0.321
HapMap African Sub 682 G=0.472 A=0.528
HapMap Asian Sub 246 G=0.829 A=0.171
HapMap Europe Sub 176 G=0.631 A=0.369
Korean Genome Project KOREAN Study-wide 1832 G=0.8111 A=0.1889
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.692 A=0.308
Northern Sweden ACPOP Study-wide 600 G=0.613 A=0.387
SGDP_PRJ Global Study-wide 288 G=0.389 A=0.611
Qatari Global Study-wide 216 G=0.565 A=0.435
A Vietnamese Genetic Variation Database Global Study-wide 210 G=0.729 A=0.271
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 82 G=0.71 A=0.29
The Danish reference pan genome Danish Study-wide 40 G=0.75 A=0.25
Siberian Global Study-wide 18 G=0.33 A=0.67
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.34859120G>A
GRCh37.p13 chr 5 NC_000005.9:g.34859225G>A
Gene: TTC23L, tetratricopeptide repeat domain 23 like (plus strand)
Molecule type Change Amino acid[Codon] SO Term
TTC23L transcript variant 1 NM_001317949.2:c.407-3778…

NM_001317949.2:c.407-3778G>A

N/A Intron Variant
TTC23L transcript variant 3 NM_001386169.1:c.380-3778…

NM_001386169.1:c.380-3778G>A

N/A Intron Variant
TTC23L transcript variant 4 NM_001386170.1:c.380-3778…

NM_001386170.1:c.380-3778G>A

N/A Intron Variant
TTC23L transcript variant 5 NM_001386171.1:c.407-3778…

NM_001386171.1:c.407-3778G>A

N/A Intron Variant
TTC23L transcript variant 6 NM_001386172.1:c.380-3778…

NM_001386172.1:c.380-3778G>A

N/A Intron Variant
TTC23L transcript variant 2 NM_144725.4:c.380-3778G>A N/A Intron Variant
TTC23L transcript variant 7 NR_169874.1:n. N/A Intron Variant
TTC23L transcript variant 8 NR_169875.1:n. N/A Intron Variant
TTC23L transcript variant 9 NR_169876.1:n. N/A Intron Variant
TTC23L transcript variant X1 XM_011513984.4:c.380-3778…

XM_011513984.4:c.380-3778G>A

N/A Intron Variant
TTC23L transcript variant X7 XM_011513985.3:c.380-3778…

XM_011513985.3:c.380-3778G>A

N/A Intron Variant
TTC23L transcript variant X10 XM_011513987.4:c.380-3778…

XM_011513987.4:c.380-3778G>A

N/A Intron Variant
TTC23L transcript variant X3 XM_017009119.3:c.407-3778…

XM_017009119.3:c.407-3778G>A

N/A Intron Variant
TTC23L transcript variant X4 XM_017009120.3:c.380-3778…

XM_017009120.3:c.380-3778G>A

N/A Intron Variant
TTC23L transcript variant X5 XM_017009121.3:c.380-3778…

XM_017009121.3:c.380-3778G>A

N/A Intron Variant
TTC23L transcript variant X6 XM_017009122.3:c.380-3778…

XM_017009122.3:c.380-3778G>A

N/A Intron Variant
TTC23L transcript variant X8 XM_017009123.3:c.380-3778…

XM_017009123.3:c.380-3778G>A

N/A Intron Variant
TTC23L transcript variant X9 XM_017009124.3:c.92-3778G…

XM_017009124.3:c.92-3778G>A

N/A Intron Variant
TTC23L transcript variant X13 XM_017009126.3:c.32-3778G…

XM_017009126.3:c.32-3778G>A

N/A Intron Variant
TTC23L transcript variant X2 XM_047416824.1:c.380-3778…

XM_047416824.1:c.380-3778G>A

N/A Intron Variant
TTC23L transcript variant X11 XM_047416825.1:c.407-3778…

XM_047416825.1:c.407-3778G>A

N/A Intron Variant
TTC23L transcript variant X12 XM_047416826.1:c.380-3778…

XM_047416826.1:c.380-3778G>A

N/A Intron Variant
Gene: LOC124900959, uncharacterized LOC124900959 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC124900959 transcript XR_007058729.1:n. 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 G= A
GRCh38.p14 chr 5 NC_000005.10:g.34859120= NC_000005.10:g.34859120G>A
GRCh37.p13 chr 5 NC_000005.9:g.34859225= NC_000005.9:g.34859225G>A
TTC23L transcript variant 1 NM_001317949.2:c.407-3778= NM_001317949.2:c.407-3778G>A
TTC23L transcript variant 3 NM_001386169.1:c.380-3778= NM_001386169.1:c.380-3778G>A
TTC23L transcript variant 4 NM_001386170.1:c.380-3778= NM_001386170.1:c.380-3778G>A
TTC23L transcript variant 5 NM_001386171.1:c.407-3778= NM_001386171.1:c.407-3778G>A
TTC23L transcript variant 6 NM_001386172.1:c.380-3778= NM_001386172.1:c.380-3778G>A
TTC23L transcript variant 2 NM_144725.3:c.380-3778= NM_144725.3:c.380-3778G>A
TTC23L transcript variant 2 NM_144725.4:c.380-3778= NM_144725.4:c.380-3778G>A
TTC23L transcript variant X1 XM_005248258.1:c.407-3778= XM_005248258.1:c.407-3778G>A
TTC23L transcript variant X2 XM_005248259.1:c.407-3778= XM_005248259.1:c.407-3778G>A
TTC23L transcript variant X1 XM_011513984.4:c.380-3778= XM_011513984.4:c.380-3778G>A
TTC23L transcript variant X7 XM_011513985.3:c.380-3778= XM_011513985.3:c.380-3778G>A
TTC23L transcript variant X10 XM_011513987.4:c.380-3778= XM_011513987.4:c.380-3778G>A
TTC23L transcript variant X3 XM_017009119.3:c.407-3778= XM_017009119.3:c.407-3778G>A
TTC23L transcript variant X4 XM_017009120.3:c.380-3778= XM_017009120.3:c.380-3778G>A
TTC23L transcript variant X5 XM_017009121.3:c.380-3778= XM_017009121.3:c.380-3778G>A
TTC23L transcript variant X6 XM_017009122.3:c.380-3778= XM_017009122.3:c.380-3778G>A
TTC23L transcript variant X8 XM_017009123.3:c.380-3778= XM_017009123.3:c.380-3778G>A
TTC23L transcript variant X9 XM_017009124.3:c.92-3778= XM_017009124.3:c.92-3778G>A
TTC23L transcript variant X13 XM_017009126.3:c.32-3778= XM_017009126.3:c.32-3778G>A
TTC23L transcript variant X2 XM_047416824.1:c.380-3778= XM_047416824.1:c.380-3778G>A
TTC23L transcript variant X11 XM_047416825.1:c.407-3778= XM_047416825.1:c.407-3778G>A
TTC23L transcript variant X12 XM_047416826.1:c.380-3778= XM_047416826.1:c.380-3778G>A
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#.

106 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss301896 Jul 12, 2000 (79)
2 KWOK ss431153 Jul 12, 2000 (79)
3 SC_JCM ss627857 Jul 16, 2000 (80)
4 KWOK ss912565 Oct 04, 2000 (86)
5 KWOK ss1013325 Oct 04, 2000 (86)
6 KWOK ss1695599 Oct 18, 2000 (87)
7 KWOK ss1734280 Oct 18, 2000 (87)
8 WI_SSAHASNP ss6479481 Feb 20, 2003 (111)
9 WI_SSAHASNP ss14659515 Dec 05, 2003 (119)
10 SC_SNP ss14838843 Dec 05, 2003 (119)
11 SSAHASNP ss22297964 Apr 05, 2004 (121)
12 ABI ss44586656 Mar 13, 2006 (126)
13 ILLUMINA ss66831037 Dec 01, 2006 (127)
14 ILLUMINA ss67143160 Dec 01, 2006 (127)
15 ILLUMINA ss67484491 Dec 01, 2006 (127)
16 ILLUMINA ss70446852 May 18, 2007 (127)
17 ILLUMINA ss70637545 May 26, 2008 (130)
18 ILLUMINA ss71188404 May 18, 2007 (127)
19 ILLUMINA ss75894743 Dec 06, 2007 (129)
20 HGSV ss81304384 Dec 16, 2007 (130)
21 KRIBB_YJKIM ss83373036 Dec 16, 2007 (130)
22 HUMANGENOME_JCVI ss98712899 Feb 06, 2009 (130)
23 BGI ss105918999 Feb 06, 2009 (130)
24 1000GENOMES ss108952946 Jan 23, 2009 (130)
25 ILLUMINA-UK ss116564287 Feb 14, 2009 (130)
26 ILLUMINA ss121768834 Dec 01, 2009 (131)
27 ENSEMBL ss143993715 Dec 01, 2009 (131)
28 ILLUMINA ss153540951 Dec 01, 2009 (131)
29 GMI ss155291921 Dec 01, 2009 (131)
30 ILLUMINA ss159290102 Dec 01, 2009 (131)
31 COMPLETE_GENOMICS ss162166651 Jul 04, 2010 (132)
32 ILLUMINA ss170694041 Jul 04, 2010 (132)
33 ILLUMINA ss172606208 Jul 04, 2010 (132)
34 BUSHMAN ss200104804 Jul 04, 2010 (132)
35 BCM-HGSC-SUB ss207127837 Jul 04, 2010 (132)
36 1000GENOMES ss221619176 Jul 14, 2010 (132)
37 1000GENOMES ss232901086 Jul 14, 2010 (132)
38 1000GENOMES ss240084216 Jul 15, 2010 (132)
39 GMI ss278242505 May 04, 2012 (137)
40 GMI ss285155237 Apr 25, 2013 (138)
41 PJP ss293566532 May 09, 2011 (134)
42 ILLUMINA ss536902789 Sep 08, 2015 (146)
43 TISHKOFF ss558318561 Apr 25, 2013 (138)
44 SSMP ss652173714 Apr 25, 2013 (138)
45 ILLUMINA ss825415585 Apr 01, 2015 (144)
46 ILLUMINA ss832802218 Jul 13, 2019 (153)
47 EVA-GONL ss981437155 Aug 21, 2014 (142)
48 JMKIDD_LAB ss1072535042 Aug 21, 2014 (142)
49 1000GENOMES ss1314607208 Aug 21, 2014 (142)
50 DDI ss1430305734 Apr 01, 2015 (144)
51 EVA_GENOME_DK ss1581089851 Apr 01, 2015 (144)
52 EVA_DECODE ss1590959368 Apr 01, 2015 (144)
53 EVA_UK10K_ALSPAC ss1612636839 Apr 01, 2015 (144)
54 EVA_UK10K_TWINSUK ss1655630872 Apr 01, 2015 (144)
55 EVA_SVP ss1712756353 Apr 01, 2015 (144)
56 HAMMER_LAB ss1803347830 Sep 08, 2015 (146)
57 WEILL_CORNELL_DGM ss1924700229 Feb 12, 2016 (147)
58 GENOMED ss1970061544 Jul 19, 2016 (147)
59 JJLAB ss2022952748 Sep 14, 2016 (149)
60 ILLUMINA ss2095154196 Dec 20, 2016 (150)
61 USC_VALOUEV ss2151103382 Dec 20, 2016 (150)
62 HUMAN_LONGEVITY ss2272794407 Dec 20, 2016 (150)
63 SYSTEMSBIOZJU ss2625976774 Nov 08, 2017 (151)
64 GRF ss2706639549 Nov 08, 2017 (151)
65 GNOMAD ss2823159834 Nov 08, 2017 (151)
66 SWEGEN ss2996725650 Nov 08, 2017 (151)
67 BIOINF_KMB_FNS_UNIBA ss3025261713 Nov 08, 2017 (151)
68 CSHL ss3346331678 Nov 08, 2017 (151)
69 ILLUMINA ss3629212604 Oct 12, 2018 (152)
70 ILLUMINA ss3638547395 Oct 12, 2018 (152)
71 ILLUMINA ss3639276496 Oct 12, 2018 (152)
72 ILLUMINA ss3639661257 Oct 12, 2018 (152)
73 ILLUMINA ss3643493897 Oct 12, 2018 (152)
74 URBANLAB ss3648030952 Oct 12, 2018 (152)
75 ILLUMINA ss3652973847 Oct 12, 2018 (152)
76 EGCUT_WGS ss3664618239 Jul 13, 2019 (153)
77 EVA_DECODE ss3714452855 Jul 13, 2019 (153)
78 ACPOP ss3732250655 Jul 13, 2019 (153)
79 EVA ss3763283923 Jul 13, 2019 (153)
80 PACBIO ss3785079845 Jul 13, 2019 (153)
81 PACBIO ss3790491253 Jul 13, 2019 (153)
82 PACBIO ss3795367685 Jul 13, 2019 (153)
83 KHV_HUMAN_GENOMES ss3806459845 Jul 13, 2019 (153)
84 EVA ss3829188594 Apr 26, 2020 (154)
85 EVA ss3838063603 Apr 26, 2020 (154)
86 EVA ss3843502834 Apr 26, 2020 (154)
87 HGDP ss3847787093 Apr 26, 2020 (154)
88 SGDP_PRJ ss3861598125 Apr 26, 2020 (154)
89 KRGDB ss3908069415 Apr 26, 2020 (154)
90 KOGIC ss3956415512 Apr 26, 2020 (154)
91 EVA ss3985134594 Apr 26, 2021 (155)
92 EVA ss4017201293 Apr 26, 2021 (155)
93 TOPMED ss4655635003 Apr 26, 2021 (155)
94 TOMMO_GENOMICS ss5171180290 Apr 26, 2021 (155)
95 1000G_HIGH_COVERAGE ss5263508179 Oct 17, 2022 (156)
96 EVA ss5356782843 Oct 17, 2022 (156)
97 HUGCELL_USP ss5461781249 Oct 17, 2022 (156)
98 EVA ss5507976853 Oct 17, 2022 (156)
99 1000G_HIGH_COVERAGE ss5546900643 Oct 17, 2022 (156)
100 SANFORD_IMAGENETICS ss5637557113 Oct 17, 2022 (156)
101 TOMMO_GENOMICS ss5707071530 Oct 17, 2022 (156)
102 YY_MCH ss5806180204 Oct 17, 2022 (156)
103 EVA ss5834766971 Oct 17, 2022 (156)
104 EVA ss5854764604 Oct 17, 2022 (156)
105 EVA ss5893695335 Oct 17, 2022 (156)
106 EVA ss5965971986 Oct 17, 2022 (156)
107 1000Genomes NC_000005.9 - 34859225 Oct 12, 2018 (152)
108 1000Genomes_30x NC_000005.10 - 34859120 Oct 17, 2022 (156)
109 The Avon Longitudinal Study of Parents and Children NC_000005.9 - 34859225 Oct 12, 2018 (152)
110 Genetic variation in the Estonian population NC_000005.9 - 34859225 Oct 12, 2018 (152)
111 The Danish reference pan genome NC_000005.9 - 34859225 Apr 26, 2020 (154)
112 gnomAD - Genomes NC_000005.10 - 34859120 Apr 26, 2021 (155)
113 Genome of the Netherlands Release 5 NC_000005.9 - 34859225 Apr 26, 2020 (154)
114 HGDP-CEPH-db Supplement 1 NC_000005.8 - 34894982 Apr 26, 2020 (154)
115 HapMap NC_000005.10 - 34859120 Apr 26, 2020 (154)
116 KOREAN population from KRGDB NC_000005.9 - 34859225 Apr 26, 2020 (154)
117 Korean Genome Project NC_000005.10 - 34859120 Apr 26, 2020 (154)
118 Northern Sweden NC_000005.9 - 34859225 Jul 13, 2019 (153)
119 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000005.9 - 34859225 Apr 26, 2021 (155)
120 Qatari NC_000005.9 - 34859225 Apr 26, 2020 (154)
121 SGDP_PRJ NC_000005.9 - 34859225 Apr 26, 2020 (154)
122 Siberian NC_000005.9 - 34859225 Apr 26, 2020 (154)
123 8.3KJPN NC_000005.9 - 34859225 Apr 26, 2021 (155)
124 14KJPN NC_000005.10 - 34859120 Oct 17, 2022 (156)
125 TopMed NC_000005.10 - 34859120 Apr 26, 2021 (155)
126 UK 10K study - Twins NC_000005.9 - 34859225 Oct 12, 2018 (152)
127 A Vietnamese Genetic Variation Database NC_000005.9 - 34859225 Jul 13, 2019 (153)
128 ALFA NC_000005.10 - 34859120 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)
rs61498486 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
464985, ss81304384, ss108952946, ss116564287, ss162166651, ss200104804, ss207127837, ss278242505, ss285155237, ss293566532, ss825415585, ss1590959368, ss1712756353, ss3639276496, ss3639661257, ss3643493897, ss3847787093 NC_000005.8:34894981:G:A NC_000005.10:34859119:G:A (self)
26190320, 14565494, 10356487, 7254790, 6473200, 15246809, 5535520, 360521, 6742159, 13615105, 3619736, 29149597, 14565494, 3238155, ss221619176, ss232901086, ss240084216, ss536902789, ss558318561, ss652173714, ss832802218, ss981437155, ss1072535042, ss1314607208, ss1430305734, ss1581089851, ss1612636839, ss1655630872, ss1803347830, ss1924700229, ss1970061544, ss2022952748, ss2095154196, ss2151103382, ss2625976774, ss2706639549, ss2823159834, ss2996725650, ss3346331678, ss3629212604, ss3638547395, ss3652973847, ss3664618239, ss3732250655, ss3763283923, ss3785079845, ss3790491253, ss3795367685, ss3829188594, ss3838063603, ss3861598125, ss3908069415, ss3985134594, ss4017201293, ss5171180290, ss5356782843, ss5507976853, ss5637557113, ss5834766971, ss5965971986 NC_000005.9:34859224:G:A NC_000005.10:34859119:G:A (self)
34426578, 185030459, 2844005, 12793513, 40908634, 493012560, 3167426706, ss2272794407, ss3025261713, ss3648030952, ss3714452855, ss3806459845, ss3843502834, ss3956415512, ss4655635003, ss5263508179, ss5461781249, ss5546900643, ss5707071530, ss5806180204, ss5854764604, ss5893695335 NC_000005.10:34859119:G:A NC_000005.10:34859119:G:A (self)
ss14659515, ss14838843, ss22297964 NT_006576.14:17311330:G:A NC_000005.10:34859119:G:A (self)
ss301896, ss431153, ss627857, ss912565, ss1013325, ss1695599, ss1734280, ss6479481, ss44586656, ss66831037, ss67143160, ss67484491, ss70446852, ss70637545, ss71188404, ss75894743, ss83373036, ss98712899, ss105918999, ss121768834, ss143993715, ss153540951, ss155291921, ss159290102, ss170694041, ss172606208 NT_006576.16:34849224:G:A NC_000005.10:34859119:G:A (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 rs163233

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.post761+d5e8e07