Skip to main page content
Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

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.

rs2067085

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr16:50699948 (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>A / C>G
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.341921 (90503/264690, TOPMED)
G=0.32053 (7333/22878, ALFA)
G=0.05603 (939/16760, 8.3KJPN) (+ 19 more)
G=0.37088 (4820/12996, GO-ESP)
G=0.2466 (1235/5008, 1000G)
G=0.4065 (1821/4480, Estonian)
G=0.3858 (1487/3854, ALSPAC)
G=0.4010 (1487/3708, TWINSUK)
G=0.0657 (192/2922, KOREAN)
G=0.0650 (119/1832, Korea1K)
G=0.391 (390/998, GoNL)
G=0.072 (57/788, PRJEB37584)
G=0.052 (32/616, Vietnamese)
G=0.417 (250/600, NorthernSweden)
G=0.373 (199/534, MGP)
G=0.237 (76/320, HapMap)
G=0.414 (126/304, FINRISK)
G=0.361 (78/216, Qatari)
C=0.423 (83/196, SGDP_PRJ)
G=0.37 (30/82, Ancient Sardinia)
G=0.25 (10/40, GENOME_DK)
C=0.30 (9/30, Siberian)
Clinical Significance
Reported in ClinVar
Gene : Consequence
NOD2 : Synonymous Variant
Publications
13 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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 22878 C=0.67947 A=0.00000, G=0.32053
European Sub 17096 C=0.65261 A=0.00000, G=0.34739
African Sub 2412 C=0.8300 A=0.0000, G=0.1700
African Others Sub 80 C=0.86 A=0.00, G=0.14
African American Sub 2332 C=0.8289 A=0.0000, G=0.1711
Asian Sub 150 C=0.980 A=0.000, G=0.020
East Asian Sub 98 C=0.99 A=0.00, G=0.01
Other Asian Sub 52 C=0.96 A=0.00, G=0.04
Latin American 1 Sub 72 C=1.00 A=0.00, G=0.00
Latin American 2 Sub 334 C=1.000 A=0.000, G=0.000
South Asian Sub 64 C=0.98 A=0.00, G=0.02
Other Sub 2750 C=0.6436 A=0.0000, G=0.3564


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 C=0.658079 G=0.341921
Allele Frequency Aggregator Total Global 22878 C=0.67947 A=0.00000, G=0.32053
Allele Frequency Aggregator European Sub 17096 C=0.65261 A=0.00000, G=0.34739
Allele Frequency Aggregator Other Sub 2750 C=0.6436 A=0.0000, G=0.3564
Allele Frequency Aggregator African Sub 2412 C=0.8300 A=0.0000, G=0.1700
Allele Frequency Aggregator Latin American 2 Sub 334 C=1.000 A=0.000, G=0.000
Allele Frequency Aggregator Asian Sub 150 C=0.980 A=0.000, G=0.020
Allele Frequency Aggregator Latin American 1 Sub 72 C=1.00 A=0.00, G=0.00
Allele Frequency Aggregator South Asian Sub 64 C=0.98 A=0.00, G=0.02
8.3KJPN JAPANESE Study-wide 16760 C=0.94397 G=0.05603
GO Exome Sequencing Project Global Study-wide 12996 C=0.62912 G=0.37088
GO Exome Sequencing Project European American Sub 8600 C=0.5907 G=0.4093
GO Exome Sequencing Project African American Sub 4396 C=0.7043 G=0.2957
1000Genomes Global Study-wide 5008 C=0.7534 G=0.2466
1000Genomes African Sub 1322 C=0.7216 G=0.2784
1000Genomes East Asian Sub 1008 C=0.9504 G=0.0496
1000Genomes Europe Sub 1006 C=0.5736 G=0.4264
1000Genomes South Asian Sub 978 C=0.813 G=0.187
1000Genomes American Sub 694 C=0.705 G=0.295
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.5935 G=0.4065
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.6142 G=0.3858
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.5990 G=0.4010
KOREAN population from KRGDB KOREAN Study-wide 2922 C=0.9343 G=0.0657
Korean Genome Project KOREAN Study-wide 1832 C=0.9350 G=0.0650
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.609 G=0.391
CNV burdens in cranial meningiomas Global Study-wide 788 C=0.928 G=0.072
CNV burdens in cranial meningiomas CRM Sub 788 C=0.928 G=0.072
A Vietnamese Genetic Variation Database Global Study-wide 616 C=0.948 G=0.052
Northern Sweden ACPOP Study-wide 600 C=0.583 G=0.417
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.627 G=0.373
HapMap Global Study-wide 320 C=0.762 G=0.237
HapMap African Sub 116 C=0.750 G=0.250
HapMap American Sub 116 C=0.612 G=0.388
HapMap Asian Sub 88 C=0.98 G=0.02
FINRISK Finnish from FINRISK project Study-wide 304 C=0.586 G=0.414
Qatari Global Study-wide 216 C=0.639 G=0.361
SGDP_PRJ Global Study-wide 196 C=0.423 G=0.577
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 82 C=0.63 G=0.37
The Danish reference pan genome Danish Study-wide 40 C=0.75 G=0.25
Siberian Global Study-wide 30 C=0.30 G=0.70
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 16 NC_000016.10:g.50699948C>A
GRCh38.p13 chr 16 NC_000016.10:g.50699948C>G
GRCh37.p13 chr 16 NC_000016.9:g.50733859C>A
GRCh37.p13 chr 16 NC_000016.9:g.50733859C>G
NOD2 RefSeqGene (LRG_177) NG_007508.1:g.7810C>A
NOD2 RefSeqGene (LRG_177) NG_007508.1:g.7810C>G
Gene: NOD2, nucleotide binding oligomerization domain containing 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NOD2 transcript variant 1 NM_022162.3:c.534C>A S [TCC] > S [TCA] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform 1 NP_071445.1:p.Ser178= S (Ser) > S (Ser) Synonymous Variant
NOD2 transcript variant 1 NM_022162.3:c.534C>G S [TCC] > S [TCG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform 1 NP_071445.1:p.Ser178= S (Ser) > S (Ser) Synonymous Variant
NOD2 transcript variant 2 NM_001293557.2:c.453C>A S [TCC] > S [TCA] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform 2 NP_001280486.1:p.Ser151= S (Ser) > S (Ser) Synonymous Variant
NOD2 transcript variant 2 NM_001293557.2:c.453C>G S [TCC] > S [TCG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform 2 NP_001280486.1:p.Ser151= S (Ser) > S (Ser) Synonymous Variant
NOD2 transcript variant 3 NM_001370466.1:c.453C>A S [TCC] > S [TCA] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform 2 NP_001357395.1:p.Ser151= S (Ser) > S (Ser) Synonymous Variant
NOD2 transcript variant 3 NM_001370466.1:c.453C>G S [TCC] > S [TCG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform 2 NP_001357395.1:p.Ser151= S (Ser) > S (Ser) Synonymous Variant
NOD2 transcript variant 4 NR_163434.1:n.518C>A N/A Non Coding Transcript Variant
NOD2 transcript variant 4 NR_163434.1:n.518C>G N/A Non Coding Transcript Variant
NOD2 transcript variant X4 XM_017023536.1:c.-127+628…

XM_017023536.1:c.-127+6286C>A

N/A Intron Variant
NOD2 transcript variant X6 XM_017023537.1:c.-21+6286…

XM_017023537.1:c.-21+6286C>A

N/A Intron Variant
NOD2 transcript variant X5 XM_011523259.2:c.-27= N/A 5 Prime UTR Variant
NOD2 transcript variant X3 XM_017023535.1:c. N/A Genic Upstream Transcript Variant
NOD2 transcript variant X13 XM_017023538.1:c. N/A Genic Upstream Transcript Variant
NOD2 transcript variant X2 XM_006721242.4:c.453C>A S [TCC] > S [TCA] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform X1 XP_006721305.1:p.Ser151= S (Ser) > S (Ser) Synonymous Variant
NOD2 transcript variant X2 XM_006721242.4:c.453C>G S [TCC] > S [TCG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform X1 XP_006721305.1:p.Ser151= S (Ser) > S (Ser) Synonymous Variant
NOD2 transcript variant X9 XM_006721243.4:c.453C>A S [TCC] > S [TCA] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform X5 XP_006721306.1:p.Ser151= S (Ser) > S (Ser) Synonymous Variant
NOD2 transcript variant X9 XM_006721243.4:c.453C>G S [TCC] > S [TCG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform X5 XP_006721306.1:p.Ser151= S (Ser) > S (Ser) Synonymous Variant
NOD2 transcript variant X10 XM_011523260.3:c.453C>A S [TCC] > S [TCA] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform X6 XP_011521562.1:p.Ser151= S (Ser) > S (Ser) Synonymous Variant
NOD2 transcript variant X10 XM_011523260.3:c.453C>G S [TCC] > S [TCG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform X6 XP_011521562.1:p.Ser151= S (Ser) > S (Ser) Synonymous Variant
NOD2 transcript variant X12 XM_011523261.2:c.453C>A S [TCC] > S [TCA] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform X4 XP_011521563.1:p.Ser151= S (Ser) > S (Ser) Synonymous Variant
NOD2 transcript variant X12 XM_011523261.2:c.453C>G S [TCC] > S [TCG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform X4 XP_011521563.1:p.Ser151= S (Ser) > S (Ser) Synonymous Variant
NOD2 transcript variant X7 XR_933387.2:n.496C>A N/A Non Coding Transcript Variant
NOD2 transcript variant X7 XR_933387.2:n.496C>G N/A Non Coding Transcript Variant
NOD2 transcript variant X8 XR_429725.3:n.496C>A N/A Non Coding Transcript Variant
NOD2 transcript variant X8 XR_429725.3:n.496C>G N/A Non Coding Transcript Variant
NOD2 transcript variant X11 XR_429726.3:n.496C>A N/A Non Coding Transcript Variant
NOD2 transcript variant X11 XR_429726.3:n.496C>G N/A Non Coding 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.

Allele: G (allele ID: 341616 )
ClinVar Accession Disease Names Clinical Significance
RCV000282231.2 Blau syndrome Benign
RCV000337291.2 Inflammatory bowel disease 1 Benign
RCV000455397.1 not specified Benign
RCV001285557.1 none provided Benign
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= A G
GRCh38.p13 chr 16 NC_000016.10:g.50699948= NC_000016.10:g.50699948C>A NC_000016.10:g.50699948C>G
GRCh37.p13 chr 16 NC_000016.9:g.50733859= NC_000016.9:g.50733859C>A NC_000016.9:g.50733859C>G
NOD2 RefSeqGene (LRG_177) NG_007508.1:g.7810= NG_007508.1:g.7810C>A NG_007508.1:g.7810C>G
NOD2 transcript variant 1 NM_022162.3:c.534= NM_022162.3:c.534C>A NM_022162.3:c.534C>G
NOD2 transcript variant 1 NM_022162.2:c.534= NM_022162.2:c.534C>A NM_022162.2:c.534C>G
NOD2 transcript NM_022162.1:c.534= NM_022162.1:c.534C>A NM_022162.1:c.534C>G
NOD2 transcript variant 2 NM_001293557.2:c.453= NM_001293557.2:c.453C>A NM_001293557.2:c.453C>G
NOD2 transcript variant 2 NM_001293557.1:c.453= NM_001293557.1:c.453C>A NM_001293557.1:c.453C>G
NOD2 transcript variant 4 NR_163434.1:n.518= NR_163434.1:n.518C>A NR_163434.1:n.518C>G
NOD2 transcript variant 3 NM_001370466.1:c.453= NM_001370466.1:c.453C>A NM_001370466.1:c.453C>G
NOD2 transcript variant X2 XM_006721242.4:c.453= XM_006721242.4:c.453C>A XM_006721242.4:c.453C>G
NOD2 transcript variant X9 XM_006721243.4:c.453= XM_006721243.4:c.453C>A XM_006721243.4:c.453C>G
NOD2 transcript variant X10 XM_011523260.3:c.453= XM_011523260.3:c.453C>A XM_011523260.3:c.453C>G
NOD2 transcript variant X8 XR_429725.3:n.496= XR_429725.3:n.496C>A XR_429725.3:n.496C>G
NOD2 transcript variant X11 XR_429726.3:n.496= XR_429726.3:n.496C>A XR_429726.3:n.496C>G
NOD2 transcript variant X5 XM_011523259.2:c.-27= XM_011523259.2:c.-27C>A XM_011523259.2:c.-27C>G
NOD2 transcript variant X12 XM_011523261.2:c.453= XM_011523261.2:c.453C>A XM_011523261.2:c.453C>G
NOD2 transcript variant X7 XR_933387.2:n.496= XR_933387.2:n.496C>A XR_933387.2:n.496C>G
nucleotide-binding oligomerization domain-containing protein 2 isoform 1 NP_071445.1:p.Ser178= NP_071445.1:p.Ser178= NP_071445.1:p.Ser178=
nucleotide-binding oligomerization domain-containing protein 2 isoform 2 NP_001280486.1:p.Ser151= NP_001280486.1:p.Ser151= NP_001280486.1:p.Ser151=
nucleotide-binding oligomerization domain-containing protein 2 isoform 2 NP_001357395.1:p.Ser151= NP_001357395.1:p.Ser151= NP_001357395.1:p.Ser151=
nucleotide-binding oligomerization domain-containing protein 2 isoform X1 XP_006721305.1:p.Ser151= XP_006721305.1:p.Ser151= XP_006721305.1:p.Ser151=
nucleotide-binding oligomerization domain-containing protein 2 isoform X5 XP_006721306.1:p.Ser151= XP_006721306.1:p.Ser151= XP_006721306.1:p.Ser151=
nucleotide-binding oligomerization domain-containing protein 2 isoform X6 XP_011521562.1:p.Ser151= XP_011521562.1:p.Ser151= XP_011521562.1:p.Ser151=
nucleotide-binding oligomerization domain-containing protein 2 isoform X4 XP_011521563.1:p.Ser151= XP_011521563.1:p.Ser151= XP_011521563.1:p.Ser151=
NOD2 transcript variant X4 XM_017023536.1:c.-127+6286= XM_017023536.1:c.-127+6286C>A XM_017023536.1:c.-127+6286C>G
NOD2 transcript variant X6 XM_017023537.1:c.-21+6286= XM_017023537.1:c.-21+6286C>A XM_017023537.1:c.-21+6286C>G
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#.

100 SubSNP, 28 Frequency, 4 ClinVar submissions
No Submitter Submission ID Date (Build)
1 GKT-CGM ss2992239 Jun 15, 2001 (96)
2 TSC-CSHL ss3092350 Jun 15, 2001 (96)
3 TSC-CSHL ss5213792 Oct 08, 2002 (108)
4 IIPGA-WEISS-MARTINEZ ss7987085 Apr 21, 2003 (114)
5 SC_SNP ss15680223 Feb 27, 2004 (120)
6 PERLEGEN ss24523783 Sep 20, 2004 (123)
7 ABI ss43966010 Mar 13, 2006 (126)
8 SNP500CANCER ss48292996 Mar 13, 2006 (126)
9 APPLERA_GI ss48430075 Mar 13, 2006 (126)
10 ILLUMINA ss65726113 Oct 15, 2006 (127)
11 KRIBB_YJKIM ss80761839 Dec 14, 2007 (130)
12 HGSV ss84187594 Dec 14, 2007 (130)
13 CANCER-GENOME ss86342477 Mar 23, 2008 (129)
14 BCMHGSC_JDW ss90389407 Mar 24, 2008 (129)
15 HUMANGENOME_JCVI ss96681678 Feb 02, 2009 (130)
16 1000GENOMES ss109315226 Jan 23, 2009 (130)
17 ILLUMINA-UK ss118248711 Feb 14, 2009 (130)
18 ENSEMBL ss136718446 Dec 01, 2009 (131)
19 ENSEMBL ss143395790 Dec 01, 2009 (131)
20 SEATTLESEQ ss159732867 Dec 01, 2009 (131)
21 ILLUMINA ss160496991 Dec 01, 2009 (131)
22 BCM-HGSC-SUB ss207660975 Jul 04, 2010 (132)
23 1000GENOMES ss227235288 Jul 14, 2010 (132)
24 1000GENOMES ss237020711 Jul 15, 2010 (132)
25 1000GENOMES ss243360613 Jul 15, 2010 (132)
26 ILLUMINA ss244286603 Jul 04, 2010 (132)
27 BL ss255694424 May 09, 2011 (134)
28 GMI ss282528001 May 04, 2012 (137)
29 GMI ss287073338 Apr 25, 2013 (138)
30 PJP ss291841461 May 09, 2011 (134)
31 NHLBI-ESP ss342428316 May 09, 2011 (134)
32 ILLUMINA ss481202640 Sep 08, 2015 (146)
33 ILLUMINA ss483510637 May 04, 2012 (137)
34 ILLUMINA ss484333077 May 04, 2012 (137)
35 1000GENOMES ss491102920 May 04, 2012 (137)
36 CLINSEQ_SNP ss491718503 May 04, 2012 (137)
37 ILLUMINA ss536516325 Sep 08, 2015 (146)
38 TISHKOFF ss564892865 Apr 25, 2013 (138)
39 SSMP ss660664008 Apr 25, 2013 (138)
40 ILLUMINA ss780634585 Aug 21, 2014 (142)
41 ILLUMINA ss782612772 Aug 21, 2014 (142)
42 ILLUMINA ss836128576 Aug 21, 2014 (142)
43 JMKIDD_LAB ss974494914 Aug 21, 2014 (142)
44 EVA-GONL ss992477586 Aug 21, 2014 (142)
45 JMKIDD_LAB ss1067561461 Aug 21, 2014 (142)
46 JMKIDD_LAB ss1080613466 Aug 21, 2014 (142)
47 1000GENOMES ss1356201971 Aug 21, 2014 (142)
48 DDI ss1427843876 Apr 01, 2015 (144)
49 EVA_GENOME_DK ss1577909106 Apr 01, 2015 (144)
50 EVA_FINRISK ss1584099877 Apr 01, 2015 (144)
51 EVA_UK10K_ALSPAC ss1634397306 Apr 01, 2015 (144)
52 EVA_UK10K_TWINSUK ss1677391339 Apr 01, 2015 (144)
53 EVA_EXAC ss1692295679 Apr 01, 2015 (144)
54 EVA_EXAC ss1692295680 Apr 01, 2015 (144)
55 EVA_DECODE ss1696510813 Apr 01, 2015 (144)
56 EVA_MGP ss1711429006 Apr 01, 2015 (144)
57 WEILL_CORNELL_DGM ss1935913235 Feb 12, 2016 (147)
58 JJLAB ss2028738414 Sep 14, 2016 (149)
59 ILLUMINA ss2094890513 Dec 20, 2016 (150)
60 ILLUMINA ss2095066581 Dec 20, 2016 (150)
61 USC_VALOUEV ss2157174271 Dec 20, 2016 (150)
62 HUMAN_LONGEVITY ss2212068028 Dec 20, 2016 (150)
63 TOPMED ss2376990090 Dec 20, 2016 (150)
64 GRF ss2701697238 Nov 08, 2017 (151)
65 GNOMAD ss2741975320 Nov 08, 2017 (151)
66 GNOMAD ss2749539975 Nov 08, 2017 (151)
67 GNOMAD ss2942899800 Nov 08, 2017 (151)
68 SWEGEN ss3014498114 Nov 08, 2017 (151)
69 EVA_SAMSUNG_MC ss3023069778 Nov 08, 2017 (151)
70 BIOINF_KMB_FNS_UNIBA ss3028187920 Nov 08, 2017 (151)
71 TOPMED ss3246272368 Nov 08, 2017 (151)
72 CSHL ss3351447107 Nov 08, 2017 (151)
73 ILLUMINA ss3627519930 Oct 12, 2018 (152)
74 ILLUMINA ss3631302524 Oct 12, 2018 (152)
75 ILLUMINA ss3636332193 Oct 12, 2018 (152)
76 OMUKHERJEE_ADBS ss3646494266 Oct 12, 2018 (152)
77 URBANLAB ss3650508264 Oct 12, 2018 (152)
78 ILLUMINA ss3652113175 Oct 12, 2018 (152)
79 EGCUT_WGS ss3681472131 Jul 13, 2019 (153)
80 EVA_DECODE ss3699242365 Jul 13, 2019 (153)
81 ACPOP ss3741501907 Jul 13, 2019 (153)
82 EVA ss3753923092 Jul 13, 2019 (153)
83 KHV_HUMAN_GENOMES ss3819212555 Jul 13, 2019 (153)
84 EVA ss3825014539 Apr 27, 2020 (154)
85 EVA ss3825530586 Apr 27, 2020 (154)
86 EVA ss3825545424 Apr 27, 2020 (154)
87 EVA ss3825878984 Apr 27, 2020 (154)
88 EVA ss3834564430 Apr 27, 2020 (154)
89 EVA ss3840887412 Apr 27, 2020 (154)
90 EVA ss3846379135 Apr 27, 2020 (154)
91 SGDP_PRJ ss3884416555 Apr 27, 2020 (154)
92 KRGDB ss3933900242 Apr 27, 2020 (154)
93 KOGIC ss3977570449 Apr 27, 2020 (154)
94 FSA-LAB ss3984093457 Apr 26, 2021 (155)
95 EVA ss3984712582 Apr 26, 2021 (155)
96 EVA ss3985755753 Apr 26, 2021 (155)
97 EVA ss3986686675 Apr 26, 2021 (155)
98 TOPMED ss5015020749 Apr 26, 2021 (155)
99 TOMMO_GENOMICS ss5219529220 Apr 26, 2021 (155)
100 EVA ss5236933365 Apr 26, 2021 (155)
101 1000Genomes NC_000016.9 - 50733859 Oct 12, 2018 (152)
102 The Avon Longitudinal Study of Parents and Children NC_000016.9 - 50733859 Oct 12, 2018 (152)
103 Genetic variation in the Estonian population NC_000016.9 - 50733859 Oct 12, 2018 (152)
104 ExAC

Submission ignored due to conflicting rows:
Row 2702917 (NC_000016.9:50733858:C:C 79388/119552, NC_000016.9:50733858:C:G 40164/119552)
Row 2702918 (NC_000016.9:50733858:C:C 119551/119552, NC_000016.9:50733858:C:A 1/119552)

- Oct 12, 2018 (152)
105 ExAC

Submission ignored due to conflicting rows:
Row 2702917 (NC_000016.9:50733858:C:C 79388/119552, NC_000016.9:50733858:C:G 40164/119552)
Row 2702918 (NC_000016.9:50733858:C:C 119551/119552, NC_000016.9:50733858:C:A 1/119552)

- Oct 12, 2018 (152)
106 FINRISK NC_000016.9 - 50733859 Apr 27, 2020 (154)
107 The Danish reference pan genome NC_000016.9 - 50733859 Apr 27, 2020 (154)
108 gnomAD - Genomes

Submission ignored due to conflicting rows:
Row 489284533 (NC_000016.10:50699947:C:A 1/140026)
Row 489284534 (NC_000016.10:50699947:C:G 50409/139958)

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

Submission ignored due to conflicting rows:
Row 489284533 (NC_000016.10:50699947:C:A 1/140026)
Row 489284534 (NC_000016.10:50699947:C:G 50409/139958)

- Apr 26, 2021 (155)
110 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 11254384 (NC_000016.9:50733858:C:C 243837/243838, NC_000016.9:50733858:C:A 1/243838)
Row 11254385 (NC_000016.9:50733858:C:C 163064/243838, NC_000016.9:50733858:C:G 80774/243838)

- Jul 13, 2019 (153)
111 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 11254384 (NC_000016.9:50733858:C:C 243837/243838, NC_000016.9:50733858:C:A 1/243838)
Row 11254385 (NC_000016.9:50733858:C:C 163064/243838, NC_000016.9:50733858:C:G 80774/243838)

- Jul 13, 2019 (153)
112 GO Exome Sequencing Project NC_000016.9 - 50733859 Oct 12, 2018 (152)
113 Genome of the Netherlands Release 5 NC_000016.9 - 50733859 Apr 27, 2020 (154)
114 HapMap NC_000016.10 - 50699948 Apr 27, 2020 (154)
115 KOREAN population from KRGDB NC_000016.9 - 50733859 Apr 27, 2020 (154)
116 Korean Genome Project NC_000016.10 - 50699948 Apr 27, 2020 (154)
117 Medical Genome Project healthy controls from Spanish population NC_000016.9 - 50733859 Apr 27, 2020 (154)
118 Northern Sweden NC_000016.9 - 50733859 Jul 13, 2019 (153)
119 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000016.9 - 50733859 Apr 26, 2021 (155)
120 CNV burdens in cranial meningiomas NC_000016.9 - 50733859 Apr 26, 2021 (155)
121 Qatari NC_000016.9 - 50733859 Apr 27, 2020 (154)
122 SGDP_PRJ NC_000016.9 - 50733859 Apr 27, 2020 (154)
123 Siberian NC_000016.9 - 50733859 Apr 27, 2020 (154)
124 8.3KJPN NC_000016.9 - 50733859 Apr 26, 2021 (155)
125 TopMed NC_000016.10 - 50699948 Apr 26, 2021 (155)
126 UK 10K study - Twins NC_000016.9 - 50733859 Oct 12, 2018 (152)
127 A Vietnamese Genetic Variation Database NC_000016.9 - 50733859 Jul 13, 2019 (153)
128 ALFA NC_000016.10 - 50699948 Apr 26, 2021 (155)
129 ClinVar RCV000282231.2 Apr 26, 2021 (155)
130 ClinVar RCV000337291.2 Apr 26, 2021 (155)
131 ClinVar RCV000455397.1 Oct 12, 2018 (152)
132 ClinVar RCV001285557.1 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)
rs17221214 Oct 08, 2004 (123)
rs56666782 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss1692295680, ss2741975320 NC_000016.9:50733858:C:A NC_000016.10:50699947:C:A (self)
5802351088 NC_000016.10:50699947:C:A NC_000016.10:50699947:C:A
ss84187594, ss90389407, ss109315226, ss118248711, ss207660975, ss255694424, ss282528001, ss287073338, ss291841461, ss483510637, ss491718503, ss1696510813, ss2094890513 NC_000016.8:49291359:C:G NC_000016.10:50699947:C:G (self)
69362993, 38471630, 27210379, 96338, 4121785, 1471716, 17157903, 41077636, 544766, 14786772, 981680, 262117, 17955157, 36433535, 9690625, 77498527, 38471630, 8535636, ss227235288, ss237020711, ss243360613, ss342428316, ss481202640, ss484333077, ss491102920, ss536516325, ss564892865, ss660664008, ss780634585, ss782612772, ss836128576, ss974494914, ss992477586, ss1067561461, ss1080613466, ss1356201971, ss1427843876, ss1577909106, ss1584099877, ss1634397306, ss1677391339, ss1692295679, ss1711429006, ss1935913235, ss2028738414, ss2095066581, ss2157174271, ss2376990090, ss2701697238, ss2741975320, ss2749539975, ss2942899800, ss3014498114, ss3023069778, ss3351447107, ss3627519930, ss3631302524, ss3636332193, ss3646494266, ss3652113175, ss3681472131, ss3741501907, ss3753923092, ss3825014539, ss3825530586, ss3825545424, ss3825878984, ss3834564430, ss3840887412, ss3884416555, ss3933900242, ss3984093457, ss3984712582, ss3985755753, ss3986686675, ss5219529220 NC_000016.9:50733858:C:G NC_000016.10:50699947:C:G (self)
RCV000282231.2, RCV000337291.2, RCV000455397.1, RCV001285557.1, 1379875, 33948450, 143969384, 230566410, 5802351088, ss2212068028, ss3028187920, ss3246272368, ss3650508264, ss3699242365, ss3819212555, ss3846379135, ss3977570449, ss5015020749, ss5236933365 NC_000016.10:50699947:C:G NC_000016.10:50699947:C:G (self)
ss2992239, ss3092350, ss5213792, ss7987085, ss24523783, ss43966010, ss48292996, ss48430075, ss65726113, ss80761839, ss86342477, ss96681678, ss136718446, ss143395790, ss159732867, ss160496991, ss244286603 NT_010498.15:4348057:C:G NC_000016.10:50699947:C:G (self)
ss15680223 NT_010505.14:2842432:C:G NC_000016.10:50699947:C:G (self)
Help

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

13 citations for rs2067085
PMID Title Author Year Journal
12577202 A novel NOD2/CARD15 haplotype conferring risk for Crohn disease in Ashkenazi Jews. Sugimura K et al. 2003 American journal of human genetics
17892524 Evidence of allelic heterogeneity for associations between the NOD2/CARD15 gene and ulcerative colitis among North Indians. Juyal G et al. 2007 Alimentary pharmacology & therapeutics
20350193 Common polymorphisms in the NOD2 gene region are associated with leprosy and its reactive states. Berrington WR et al. 2010 The Journal of infectious diseases
20698950 NOD2-C2 - a novel NOD2 isoform activating NF-kappaB in a muramyl dipeptide-independent manner. Kramer M et al. 2010 BMC research notes
21304977 An investigation of genome-wide studies reported susceptibility loci for ulcerative colitis shows limited replication in north Indians. Juyal G et al. 2011 PloS one
22277159 Implications for health and disease in the genetic signature of the Ashkenazi Jewish population. Guha S et al. 2012 Genome biology
22563200 Association of NOD1 and NOD2 genes polymorphisms with Helicobacter pylori related gastric cancer in a Chinese population. Wang P et al. 2012 World journal of gastroenterology
22770979 Presence of multiple independent effects in risk loci of common complex human diseases. Ke X et al. 2012 American journal of human genetics
23085276 NOD2 gene mutations associate weakly with ulcerative colitis but not with Crohn's disease in Indian patients with inflammatory bowel disease. Pugazhendhi S et al. 2013 Gene
24033266 A systematic approach to assessing the clinical significance of genetic variants. Duzkale H et al. 2013 Clinical genetics
27404661 Polymorphisms in the Mannose-Binding Lectin Gene are Associated with Defective Mannose-Binding Lectin Functional Activity in Crohn's Disease Patients. Choteau L et al. 2016 Scientific reports
27432718 Variation of 46 Innate Immune Genes Evaluated for their Contribution in Pneumococcal Meningitis Susceptibility and Outcome. Ferwerda B et al. 2016 EBioMedicine
27446957 NALP3-Inflammasome-Related Gene Polymorphisms in Patients with Prehypertension and Coronary Atherosclerosis. Zhao X et al. 2016 BioMed research international
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.post676+237644a