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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.

rs144368009

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr16:50699944 (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
C>A / C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.000019 (5/264690, TOPMED)
T=0.000029 (7/244900, GnomAD_exome)
T=0.000014 (2/140230, GnomAD) (+ 4 more)
T=0.00009 (2/23038, ALFA)
T=0.00008 (1/12996, GO-ESP)
T=0.0003 (1/3854, ALSPAC)
T=0.0003 (1/3708, TWINSUK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
NOD2 : Missense 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 23038 C=0.99991 T=0.00009
European Sub 15752 C=0.99994 T=0.00006
African Sub 3492 C=0.9997 T=0.0003
African Others Sub 122 C=1.000 T=0.000
African American Sub 3370 C=0.9997 T=0.0003
Asian Sub 168 C=1.000 T=0.000
East Asian Sub 112 C=1.000 T=0.000
Other Asian Sub 56 C=1.00 T=0.00
Latin American 1 Sub 146 C=1.000 T=0.000
Latin American 2 Sub 610 C=1.000 T=0.000
South Asian Sub 98 C=1.00 T=0.00
Other Sub 2772 C=1.0000 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
TopMed Global Study-wide 264690 C=0.999981 T=0.000019
gnomAD - Exomes Global Study-wide 244900 C=0.999971 T=0.000029
gnomAD - Exomes European Sub 129176 C=0.999977 T=0.000023
gnomAD - Exomes Asian Sub 48904 C=0.99996 T=0.00004
gnomAD - Exomes American Sub 34536 C=1.00000 T=0.00000
gnomAD - Exomes African Sub 16160 C=0.99994 T=0.00006
gnomAD - Exomes Ashkenazi Jewish Sub 10050 C=1.00000 T=0.00000
gnomAD - Exomes Other Sub 6074 C=0.9998 T=0.0002
gnomAD - Genomes Global Study-wide 140230 C=0.999986 T=0.000014
gnomAD - Genomes European Sub 75924 C=0.99999 T=0.00001
gnomAD - Genomes African Sub 42038 C=0.99998 T=0.00002
gnomAD - Genomes American Sub 13660 C=1.00000 T=0.00000
gnomAD - Genomes Ashkenazi Jewish Sub 3324 C=1.0000 T=0.0000
gnomAD - Genomes East Asian Sub 3132 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2152 C=1.0000 T=0.0000
Allele Frequency Aggregator Total Global 23038 C=0.99991 T=0.00009
Allele Frequency Aggregator European Sub 15752 C=0.99994 T=0.00006
Allele Frequency Aggregator African Sub 3492 C=0.9997 T=0.0003
Allele Frequency Aggregator Other Sub 2772 C=1.0000 T=0.0000
Allele Frequency Aggregator Latin American 2 Sub 610 C=1.000 T=0.000
Allele Frequency Aggregator Asian Sub 168 C=1.000 T=0.000
Allele Frequency Aggregator Latin American 1 Sub 146 C=1.000 T=0.000
Allele Frequency Aggregator South Asian Sub 98 C=1.00 T=0.00
GO Exome Sequencing Project Global Study-wide 12996 C=0.99992 T=0.00008
GO Exome Sequencing Project European American Sub 8600 C=1.0000 T=0.0000
GO Exome Sequencing Project African American Sub 4396 C=0.9998 T=0.0002
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.9997 T=0.0003
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.9997 T=0.0003
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 16 NC_000016.10:g.50699944C>A
GRCh38.p14 chr 16 NC_000016.10:g.50699944C>T
GRCh37.p13 chr 16 NC_000016.9:g.50733855C>A
GRCh37.p13 chr 16 NC_000016.9:g.50733855C>T
NOD2 RefSeqGene (LRG_177) NG_007508.1:g.7806C>A
NOD2 RefSeqGene (LRG_177) NG_007508.1:g.7806C>T
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.530C>A P [CCG] > Q [CAG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform 1 NP_071445.1:p.Pro177Gln P (Pro) > Q (Gln) Missense Variant
NOD2 transcript variant 1 NM_022162.3:c.530C>T P [CCG] > L [CTG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform 1 NP_071445.1:p.Pro177Leu P (Pro) > L (Leu) Missense Variant
NOD2 transcript variant 2 NM_001293557.2:c.449C>A P [CCG] > Q [CAG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform 2 NP_001280486.1:p.Pro150Gln P (Pro) > Q (Gln) Missense Variant
NOD2 transcript variant 2 NM_001293557.2:c.449C>T P [CCG] > L [CTG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform 2 NP_001280486.1:p.Pro150Leu P (Pro) > L (Leu) Missense Variant
NOD2 transcript variant 3 NM_001370466.1:c.449C>A P [CCG] > Q [CAG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform 2 NP_001357395.1:p.Pro150Gln P (Pro) > Q (Gln) Missense Variant
NOD2 transcript variant 3 NM_001370466.1:c.449C>T P [CCG] > L [CTG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform 2 NP_001357395.1:p.Pro150Leu P (Pro) > L (Leu) Missense Variant
NOD2 transcript variant 4 NR_163434.1:n.514C>A N/A Non Coding Transcript Variant
NOD2 transcript variant 4 NR_163434.1:n.514C>T N/A Non Coding Transcript Variant
NOD2 transcript variant X5 XM_017023536.2:c.-127+628…

XM_017023536.2:c.-127+6282C>A

N/A Intron Variant
NOD2 transcript variant X6 XM_017023537.2:c.-21+6282…

XM_017023537.2:c.-21+6282C>A

N/A Intron Variant
NOD2 transcript variant X3 XM_047434453.1:c.-38+6282…

XM_047434453.1:c.-38+6282C>A

N/A Intron Variant
NOD2 transcript variant X2 XM_047434452.1:c.-48= N/A 5 Prime UTR Variant
NOD2 transcript variant X4 XM_047434454.1:c. N/A Genic Upstream Transcript Variant
NOD2 transcript variant X1 XM_006721242.5:c.449C>A P [CCG] > Q [CAG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform X1 XP_006721305.1:p.Pro150Gln P (Pro) > Q (Gln) Missense Variant
NOD2 transcript variant X1 XM_006721242.5:c.449C>T P [CCG] > L [CTG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform X1 XP_006721305.1:p.Pro150Leu P (Pro) > L (Leu) Missense Variant
NOD2 transcript variant X7 XM_011523261.3:c.449C>A P [CCG] > Q [CAG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform X4 XP_011521563.1:p.Pro150Gln P (Pro) > Q (Gln) Missense Variant
NOD2 transcript variant X7 XM_011523261.3:c.449C>T P [CCG] > L [CTG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform X4 XP_011521563.1:p.Pro150Leu P (Pro) > L (Leu) Missense Variant
NOD2 transcript variant X9 XM_006721243.5:c.449C>A P [CCG] > Q [CAG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform X5 XP_006721306.1:p.Pro150Gln P (Pro) > Q (Gln) Missense Variant
NOD2 transcript variant X9 XM_006721243.5:c.449C>T P [CCG] > L [CTG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform X5 XP_006721306.1:p.Pro150Leu P (Pro) > L (Leu) Missense Variant
NOD2 transcript variant X10 XM_011523260.4:c.449C>A P [CCG] > Q [CAG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform X6 XP_011521562.1:p.Pro150Gln P (Pro) > Q (Gln) Missense Variant
NOD2 transcript variant X10 XM_011523260.4:c.449C>T P [CCG] > L [CTG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform X6 XP_011521562.1:p.Pro150Leu P (Pro) > L (Leu) Missense Variant
NOD2 transcript variant X12 XM_047434455.1:c.449C>A P [CCG] > Q [CAG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform X6 XP_047290411.1:p.Pro150Gln P (Pro) > Q (Gln) Missense Variant
NOD2 transcript variant X12 XM_047434455.1:c.449C>T P [CCG] > L [CTG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform X6 XP_047290411.1:p.Pro150Leu P (Pro) > L (Leu) Missense Variant
NOD2 transcript variant X13 XM_047434456.1:c.449C>A P [CCG] > Q [CAG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform X7 XP_047290412.1:p.Pro150Gln P (Pro) > Q (Gln) Missense Variant
NOD2 transcript variant X13 XM_047434456.1:c.449C>T P [CCG] > L [CTG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform X7 XP_047290412.1:p.Pro150Leu P (Pro) > L (Leu) Missense Variant
NOD2 transcript variant X14 XM_047434457.1:c.449C>A P [CCG] > Q [CAG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform X8 XP_047290413.1:p.Pro150Gln P (Pro) > Q (Gln) Missense Variant
NOD2 transcript variant X14 XM_047434457.1:c.449C>T P [CCG] > L [CTG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform X8 XP_047290413.1:p.Pro150Leu P (Pro) > L (Leu) Missense Variant
NOD2 transcript variant X8 XR_007064894.1:n.514C>A N/A Non Coding Transcript Variant
NOD2 transcript variant X8 XR_007064894.1:n.514C>T N/A Non Coding Transcript Variant
NOD2 transcript variant X11 XR_007064895.1:n.514C>A N/A Non Coding Transcript Variant
NOD2 transcript variant X11 XR_007064895.1:n.514C>T 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: T (allele ID: 949420 )
ClinVar Accession Disease Names Clinical Significance
RCV001229643.5 Blau syndrome,Inflammatory bowel disease 1 Uncertain-Significance
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 T
GRCh38.p14 chr 16 NC_000016.10:g.50699944= NC_000016.10:g.50699944C>A NC_000016.10:g.50699944C>T
GRCh37.p13 chr 16 NC_000016.9:g.50733855= NC_000016.9:g.50733855C>A NC_000016.9:g.50733855C>T
NOD2 RefSeqGene (LRG_177) NG_007508.1:g.7806= NG_007508.1:g.7806C>A NG_007508.1:g.7806C>T
NOD2 transcript variant 1 NM_022162.3:c.530= NM_022162.3:c.530C>A NM_022162.3:c.530C>T
NOD2 transcript variant 1 NM_022162.2:c.530= NM_022162.2:c.530C>A NM_022162.2:c.530C>T
NOD2 transcript NM_022162.1:c.530= NM_022162.1:c.530C>A NM_022162.1:c.530C>T
NOD2 transcript variant 2 NM_001293557.2:c.449= NM_001293557.2:c.449C>A NM_001293557.2:c.449C>T
NOD2 transcript variant 2 NM_001293557.1:c.449= NM_001293557.1:c.449C>A NM_001293557.1:c.449C>T
NOD2 transcript variant 4 NR_163434.1:n.514= NR_163434.1:n.514C>A NR_163434.1:n.514C>T
NOD2 transcript variant 3 NM_001370466.1:c.449= NM_001370466.1:c.449C>A NM_001370466.1:c.449C>T
NOD2 transcript variant X1 XM_006721242.5:c.449= XM_006721242.5:c.449C>A XM_006721242.5:c.449C>T
NOD2 transcript variant X2 XM_006721242.4:c.449= XM_006721242.4:c.449C>A XM_006721242.4:c.449C>T
NOD2 transcript variant X2 XM_006721242.3:c.449= XM_006721242.3:c.449C>A XM_006721242.3:c.449C>T
NOD2 transcript variant X2 XM_006721242.2:c.449= XM_006721242.2:c.449C>A XM_006721242.2:c.449C>T
NOD2 transcript variant X2 XM_006721242.1:c.449= XM_006721242.1:c.449C>A XM_006721242.1:c.449C>T
NOD2 transcript variant X9 XM_006721243.5:c.449= XM_006721243.5:c.449C>A XM_006721243.5:c.449C>T
NOD2 transcript variant X9 XM_006721243.4:c.449= XM_006721243.4:c.449C>A XM_006721243.4:c.449C>T
NOD2 transcript variant X9 XM_006721243.3:c.449= XM_006721243.3:c.449C>A XM_006721243.3:c.449C>T
NOD2 transcript variant X8 XM_006721243.2:c.449= XM_006721243.2:c.449C>A XM_006721243.2:c.449C>T
NOD2 transcript variant X3 XM_006721243.1:c.449= XM_006721243.1:c.449C>A XM_006721243.1:c.449C>T
NOD2 transcript variant X10 XM_011523260.4:c.449= XM_011523260.4:c.449C>A XM_011523260.4:c.449C>T
NOD2 transcript variant X10 XM_011523260.3:c.449= XM_011523260.3:c.449C>A XM_011523260.3:c.449C>T
NOD2 transcript variant X10 XM_011523260.2:c.449= XM_011523260.2:c.449C>A XM_011523260.2:c.449C>T
NOD2 transcript variant X9 XM_011523260.1:c.449= XM_011523260.1:c.449C>A XM_011523260.1:c.449C>T
NOD2 transcript variant X7 XM_011523261.3:c.449= XM_011523261.3:c.449C>A XM_011523261.3:c.449C>T
NOD2 transcript variant X12 XM_011523261.2:c.449= XM_011523261.2:c.449C>A XM_011523261.2:c.449C>T
NOD2 transcript variant X12 XM_011523261.1:c.449= XM_011523261.1:c.449C>A XM_011523261.1:c.449C>T
NOD2 transcript variant X2 XM_047434452.1:c.-48= XM_047434452.1:c.-48C>A XM_047434452.1:c.-48C>T
NOD2 transcript variant X8 XR_007064894.1:n.514= XR_007064894.1:n.514C>A XR_007064894.1:n.514C>T
NOD2 transcript variant X11 XR_007064895.1:n.514= XR_007064895.1:n.514C>A XR_007064895.1:n.514C>T
NOD2 transcript variant X12 XM_047434455.1:c.449= XM_047434455.1:c.449C>A XM_047434455.1:c.449C>T
NOD2 transcript variant X14 XM_047434457.1:c.449= XM_047434457.1:c.449C>A XM_047434457.1:c.449C>T
NOD2 transcript variant X13 XM_047434456.1:c.449= XM_047434456.1:c.449C>A XM_047434456.1:c.449C>T
nucleotide-binding oligomerization domain-containing protein 2 isoform 1 NP_071445.1:p.Pro177= NP_071445.1:p.Pro177Gln NP_071445.1:p.Pro177Leu
nucleotide-binding oligomerization domain-containing protein 2 isoform 2 NP_001280486.1:p.Pro150= NP_001280486.1:p.Pro150Gln NP_001280486.1:p.Pro150Leu
nucleotide-binding oligomerization domain-containing protein 2 isoform 2 NP_001357395.1:p.Pro150= NP_001357395.1:p.Pro150Gln NP_001357395.1:p.Pro150Leu
nucleotide-binding oligomerization domain-containing protein 2 isoform X1 XP_006721305.1:p.Pro150= XP_006721305.1:p.Pro150Gln XP_006721305.1:p.Pro150Leu
nucleotide-binding oligomerization domain-containing protein 2 isoform X5 XP_006721306.1:p.Pro150= XP_006721306.1:p.Pro150Gln XP_006721306.1:p.Pro150Leu
nucleotide-binding oligomerization domain-containing protein 2 isoform X6 XP_011521562.1:p.Pro150= XP_011521562.1:p.Pro150Gln XP_011521562.1:p.Pro150Leu
nucleotide-binding oligomerization domain-containing protein 2 isoform X4 XP_011521563.1:p.Pro150= XP_011521563.1:p.Pro150Gln XP_011521563.1:p.Pro150Leu
nucleotide-binding oligomerization domain-containing protein 2 isoform X6 XP_047290411.1:p.Pro150= XP_047290411.1:p.Pro150Gln XP_047290411.1:p.Pro150Leu
nucleotide-binding oligomerization domain-containing protein 2 isoform X8 XP_047290413.1:p.Pro150= XP_047290413.1:p.Pro150Gln XP_047290413.1:p.Pro150Leu
nucleotide-binding oligomerization domain-containing protein 2 isoform X7 XP_047290412.1:p.Pro150= XP_047290412.1:p.Pro150Gln XP_047290412.1:p.Pro150Leu
NOD2 transcript variant X5 XM_017023536.2:c.-127+6282= XM_017023536.2:c.-127+6282C>A XM_017023536.2:c.-127+6282C>T
NOD2 transcript variant X6 XM_017023537.2:c.-21+6282= XM_017023537.2:c.-21+6282C>A XM_017023537.2:c.-21+6282C>T
NOD2 transcript variant X3 XM_047434453.1:c.-38+6282= XM_047434453.1:c.-38+6282C>A XM_047434453.1:c.-38+6282C>T
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#.

12 SubSNP, 9 Frequency, 1 ClinVar submissions
No Submitter Submission ID Date (Build)
1 NHLBI-ESP ss342428315 May 09, 2011 (134)
2 EVA_UK10K_ALSPAC ss1634397305 Apr 01, 2015 (144)
3 EVA_UK10K_TWINSUK ss1677391338 Apr 01, 2015 (144)
4 EVA_EXAC ss1692295676 Apr 01, 2015 (144)
5 EVA_EXAC ss1692295677 Apr 01, 2015 (144)
6 HUMAN_LONGEVITY ss2212068026 Dec 20, 2016 (150)
7 GNOMAD ss2741975317 Nov 08, 2017 (151)
8 GNOMAD ss2749539974 Nov 08, 2017 (151)
9 GNOMAD ss2942899799 Nov 08, 2017 (151)
10 EVA ss3825014538 Apr 27, 2020 (154)
11 TOPMED ss5015020745 Apr 26, 2021 (155)
12 EVA ss5950271759 Oct 17, 2022 (156)
13 The Avon Longitudinal Study of Parents and Children NC_000016.9 - 50733855 Oct 12, 2018 (152)
14 ExAC

Submission ignored due to conflicting rows:
Row 2702914 (NC_000016.9:50733854:C:C 120067/120068, NC_000016.9:50733854:C:A 1/120068)
Row 2702915 (NC_000016.9:50733854:C:C 120065/120068, NC_000016.9:50733854:C:T 3/120068)

- Oct 12, 2018 (152)
15 ExAC

Submission ignored due to conflicting rows:
Row 2702914 (NC_000016.9:50733854:C:C 120067/120068, NC_000016.9:50733854:C:A 1/120068)
Row 2702915 (NC_000016.9:50733854:C:C 120065/120068, NC_000016.9:50733854:C:T 3/120068)

- Oct 12, 2018 (152)
16 gnomAD - Genomes NC_000016.10 - 50699944 Apr 26, 2021 (155)
17 gnomAD - Exomes NC_000016.9 - 50733855 Jul 13, 2019 (153)
18 GO Exome Sequencing Project NC_000016.9 - 50733855 Oct 12, 2018 (152)
19 TopMed NC_000016.10 - 50699944 Apr 26, 2021 (155)
20 UK 10K study - Twins NC_000016.9 - 50733855 Oct 12, 2018 (152)
21 ALFA NC_000016.10 - 50699944 Apr 26, 2021 (155)
22 ClinVar RCV001229643.5 Oct 17, 2022 (156)
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
ss1692295676 NC_000016.9:50733854:C:A NC_000016.10:50699943:C:A (self)
38471629, 11254381, 1471715, 38471629, ss342428315, ss1634397305, ss1677391338, ss1692295677, ss2741975317, ss2749539974, ss2942899799, ss3825014538, ss5950271759 NC_000016.9:50733854:C:T NC_000016.10:50699943:C:T (self)
RCV001229643.5, 489284529, 230566406, 8826031445, ss2212068026, ss5015020745 NC_000016.10:50699943:C:T NC_000016.10:50699943: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 rs144368009

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
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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