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dbSNP Short Genetic Variations

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.

rs104895438

Current Build 152

Released October 2, 2018

Organism
Homo sapiens
Position
chr16:50711745 (GRCh38.p12) 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 / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.00064 (157/246160, GnomAD)
A=0.00048 (60/125568, TOPMED)
A=0.0003 (9/30968, GnomAD) (+ 2 more)
A=0.000 (1/3854, ALSPAC)
A=0.000 (0/3708, TWINSUK)
Clinical Significance
Reported in ClinVar
Gene : Consequence
NOD2 : Missense Variant
Publications
5 citations
Genomic View
See rs on genome
Help

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements
Sequence name Change
GRCh38.p12 chr 16 NC_000016.10:g.50711745G>A
GRCh38.p12 chr 16 NC_000016.10:g.50711745G>T
GRCh37.p13 chr 16 NC_000016.9:g.50745656G>A
GRCh37.p13 chr 16 NC_000016.9:g.50745656G>T
NOD2 RefSeqGene (LRG_177) NG_007508.1:g.19607G>A
NOD2 RefSeqGene (LRG_177) NG_007508.1:g.19607G>T
Gene: NOD2, nucleotide binding oligomerization domain containing 2 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
NOD2 transcript variant 1 NM_022162.2:c.1834G>A A [GCG] > T [ACG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform 1 NP_071445.1:p.Ala612Thr A (Ala) > T (Thr) Missense Variant
NOD2 transcript variant 1 NM_022162.2:c.1834G>T A [GCG] > S [TCG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform 1 NP_071445.1:p.Ala612Ser A (Ala) > S (Ser) Missense Variant
NOD2 transcript variant 2 NM_001293557.1:c.1753G>A A [GCG] > T [ACG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform 2 NP_001280486.1:p.Ala585Thr A (Ala) > T (Thr) Missense Variant
NOD2 transcript variant 2 NM_001293557.1:c.1753G>T A [GCG] > S [TCG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform 2 NP_001280486.1:p.Ala585Ser A (Ala) > S (Ser) Missense Variant
NOD2 transcript variant X3 XM_017023535.1:c.1261G>A A [GCG] > T [ACG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform X3 XP_016879024.1:p.Ala421Thr A (Ala) > T (Thr) Missense Variant
NOD2 transcript variant X3 XM_017023535.1:c.1261G>T A [GCG] > S [TCG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform X3 XP_016879024.1:p.Ala421Ser A (Ala) > S (Ser) Missense Variant
NOD2 transcript variant X4 XM_017023536.1:c.1168G>A A [GCG] > T [ACG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform X4 XP_016879025.1:p.Ala390Thr A (Ala) > T (Thr) Missense Variant
NOD2 transcript variant X4 XM_017023536.1:c.1168G>T A [GCG] > S [TCG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform X4 XP_016879025.1:p.Ala390Ser A (Ala) > S (Ser) Missense Variant
NOD2 transcript variant X5 XM_011523259.2:c.1168G>A A [GCG] > T [ACG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform X4 XP_011521561.1:p.Ala390Thr A (Ala) > T (Thr) Missense Variant
NOD2 transcript variant X5 XM_011523259.2:c.1168G>T A [GCG] > S [TCG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform X4 XP_011521561.1:p.Ala390Ser A (Ala) > S (Ser) Missense Variant
NOD2 transcript variant X6 XM_017023537.1:c.1168G>A A [GCG] > T [ACG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform X4 XP_016879026.1:p.Ala390Thr A (Ala) > T (Thr) Missense Variant
NOD2 transcript variant X6 XM_017023537.1:c.1168G>T A [GCG] > S [TCG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform X4 XP_016879026.1:p.Ala390Ser A (Ala) > S (Ser) Missense Variant
NOD2 transcript variant X13 XM_017023538.1:c.1168G>A A [GCG] > T [ACG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform X4 XP_016879027.1:p.Ala390Thr A (Ala) > T (Thr) Missense Variant
NOD2 transcript variant X13 XM_017023538.1:c.1168G>T A [GCG] > S [TCG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform X4 XP_016879027.1:p.Ala390Ser A (Ala) > S (Ser) Missense Variant
NOD2 transcript variant X1 XM_005256084.4:c.1753G>A A [GCG] > T [ACG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform X1 XP_005256141.1:p.Ala585Thr A (Ala) > T (Thr) Missense Variant
NOD2 transcript variant X1 XM_005256084.4:c.1753G>T A [GCG] > S [TCG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform X1 XP_005256141.1:p.Ala585Ser A (Ala) > S (Ser) Missense Variant
NOD2 transcript variant X2 XM_006721242.4:c.1753G>A A [GCG] > T [ACG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform X2 XP_006721305.1:p.Ala585Thr A (Ala) > T (Thr) Missense Variant
NOD2 transcript variant X2 XM_006721242.4:c.1753G>T A [GCG] > S [TCG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform X2 XP_006721305.1:p.Ala585Ser A (Ala) > S (Ser) Missense Variant
NOD2 transcript variant X9 XM_006721243.4:c.1753G>A A [GCG] > T [ACG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform X5 XP_006721306.1:p.Ala585Thr A (Ala) > T (Thr) Missense Variant
NOD2 transcript variant X9 XM_006721243.4:c.1753G>T A [GCG] > S [TCG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform X5 XP_006721306.1:p.Ala585Ser A (Ala) > S (Ser) Missense Variant
NOD2 transcript variant X10 XM_011523260.3:c.1753G>A A [GCG] > T [ACG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform X6 XP_011521562.1:p.Ala585Thr A (Ala) > T (Thr) Missense Variant
NOD2 transcript variant X10 XM_011523260.3:c.1753G>T A [GCG] > S [TCG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform X6 XP_011521562.1:p.Ala585Ser A (Ala) > S (Ser) Missense Variant
NOD2 transcript variant X12 XM_011523261.2:c.1753G>A A [GCG] > T [ACG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform X7 XP_011521563.1:p.Ala585Thr A (Ala) > T (Thr) Missense Variant
NOD2 transcript variant X12 XM_011523261.2:c.1753G>T A [GCG] > S [TCG] Coding Sequence Variant
nucleotide-binding oligomerization domain-containing protein 2 isoform X7 XP_011521563.1:p.Ala585Ser A (Ala) > S (Ser) Missense Variant
NOD2 transcript variant X7 XR_933387.2:n.1796G>A N/A Non Coding Transcript Variant
NOD2 transcript variant X7 XR_933387.2:n.1796G>T N/A Non Coding Transcript Variant
NOD2 transcript variant X8 XR_429725.3:n.1796G>A N/A Non Coding Transcript Variant
NOD2 transcript variant X8 XR_429725.3:n.1796G>T N/A Non Coding Transcript Variant
NOD2 transcript variant X11 XR_429726.3:n.1796G>A N/A Non Coding Transcript Variant
NOD2 transcript variant X11 XR_429726.3:n.1796G>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: A (allele ID: 19739 )
ClinVar Accession Disease Names Clinical Significance
RCV000004965.6 Sarcoidosis, early-onset Not-Provided
RCV000271343.1 Crohn disease Likely-Benign
RCV000328692.7 Blau syndrome Likely-Benign
Allele: T (allele ID: 343103 )
ClinVar Accession Disease Names Clinical Significance
RCV000293577.1 Crohn disease Likely-Benign
RCV000385541.1 Blau syndrome Likely-Benign
Help

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download
Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Exomes Global Study-wide 246160 G=0.99931 A=0.00064, T=0.00006
gnomAD - Exomes European Sub 133920 G=0.99980 A=0.00020, T=0.00000
gnomAD - Exomes Asian Sub 48024 G=0.9988 A=0.0010, T=0.0002
gnomAD - Exomes American Sub 33580 G=0.9998 A=0.0002, T=0.0000
gnomAD - Exomes African Sub 15304 G=1.0000 A=0.0000, T=0.0000
gnomAD - Exomes Ashkenazi Jewish Sub 9848 G=0.993 A=0.007, T=0.000
gnomAD - Exomes Other Sub 5484 G=0.999 A=0.001, T=0.001
TopMed Global Study-wide 125568 G=0.99952 A=0.00048
gnomAD - Genomes Global Study-wide 30968 G=0.9995 T=0.0002, A=0.0003
gnomAD - Genomes European Sub 18500 G=0.9999 T=0.0000, A=0.0001
gnomAD - Genomes African Sub 8726 G=1.000 T=0.000, A=0.000
gnomAD - Genomes East Asian Sub 1622 G=0.994 T=0.003, A=0.003
gnomAD - Genomes Other Sub 980 G=1.00 T=0.00, A=0.00
gnomAD - Genomes American Sub 838 G=1.00 T=0.00, A=0.00
gnomAD - Genomes Ashkenazi Jewish Sub 302 G=0.99 T=0.00, A=0.01
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=1.000 A=0.000
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=1.000 A=0.000
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 T Note
GRCh38.p12 chr 16 NC_000016.10:g.50...

NC_000016.10:g.50711745G=

NC_000016.10:g.50...

NC_000016.10:g.50711745G>A

NC_000016.10:g.50...

NC_000016.10:g.50711745G>T

GRCh37.p13 chr 16 NC_000016.9:g.507...

NC_000016.9:g.50745656G=

NC_000016.9:g.507...

NC_000016.9:g.50745656G>A

NC_000016.9:g.507...

NC_000016.9:g.50745656G>T

NOD2 RefSeqGene (LRG_177) NG_007508.1:g.196...

NG_007508.1:g.19607G=

NG_007508.1:g.196...

NG_007508.1:g.19607G>A

NG_007508.1:g.196...

NG_007508.1:g.19607G>T

NOD2 transcript variant 1 NM_022162.2:c.1834G= NM_022162.2:c.183...

NM_022162.2:c.1834G>A

NM_022162.2:c.183...

NM_022162.2:c.1834G>T

NOD2 transcript NM_022162.1:c.1834G= NM_022162.1:c.183...

NM_022162.1:c.1834G>A

NM_022162.1:c.183...

NM_022162.1:c.1834G>T

NOD2 transcript variant 2 NM_001293557.1:c....

NM_001293557.1:c.1753G=

NM_001293557.1:c....

NM_001293557.1:c.1753G>A

NM_001293557.1:c....

NM_001293557.1:c.1753G>T

NOD2 transcript variant X1 XM_005256084.4:c....

XM_005256084.4:c.1753G=

XM_005256084.4:c....

XM_005256084.4:c.1753G>A

XM_005256084.4:c....

XM_005256084.4:c.1753G>T

NOD2 transcript variant X1 XM_005256084.1:c....

XM_005256084.1:c.1753G=

XM_005256084.1:c....

XM_005256084.1:c.1753G>A

XM_005256084.1:c....

XM_005256084.1:c.1753G>T

NOD2 transcript variant X2 XM_006721242.4:c....

XM_006721242.4:c.1753G=

XM_006721242.4:c....

XM_006721242.4:c.1753G>A

XM_006721242.4:c....

XM_006721242.4:c.1753G>T

NOD2 transcript variant X9 XM_006721243.4:c....

XM_006721243.4:c.1753G=

XM_006721243.4:c....

XM_006721243.4:c.1753G>A

XM_006721243.4:c....

XM_006721243.4:c.1753G>T

NOD2 transcript variant X10 XM_011523260.3:c....

XM_011523260.3:c.1753G=

XM_011523260.3:c....

XM_011523260.3:c.1753G>A

XM_011523260.3:c....

XM_011523260.3:c.1753G>T

NOD2 transcript variant X8 XR_429725.3:n.1796G= XR_429725.3:n.179...

XR_429725.3:n.1796G>A

XR_429725.3:n.179...

XR_429725.3:n.1796G>T

NOD2 transcript variant X11 XR_429726.3:n.1796G= XR_429726.3:n.179...

XR_429726.3:n.1796G>A

XR_429726.3:n.179...

XR_429726.3:n.1796G>T

NOD2 transcript variant X5 XM_011523259.2:c....

XM_011523259.2:c.1168G=

XM_011523259.2:c....

XM_011523259.2:c.1168G>A

XM_011523259.2:c....

XM_011523259.2:c.1168G>T

NOD2 transcript variant X12 XM_011523261.2:c....

XM_011523261.2:c.1753G=

XM_011523261.2:c....

XM_011523261.2:c.1753G>A

XM_011523261.2:c....

XM_011523261.2:c.1753G>T

NOD2 transcript variant X7 XR_933387.2:n.1796G= XR_933387.2:n.179...

XR_933387.2:n.1796G>A

XR_933387.2:n.179...

XR_933387.2:n.1796G>T

NOD2 transcript variant X3 XM_017023535.1:c....

XM_017023535.1:c.1261G=

XM_017023535.1:c....

XM_017023535.1:c.1261G>A

XM_017023535.1:c....

XM_017023535.1:c.1261G>T

NOD2 transcript variant X4 XM_017023536.1:c....

XM_017023536.1:c.1168G=

XM_017023536.1:c....

XM_017023536.1:c.1168G>A

XM_017023536.1:c....

XM_017023536.1:c.1168G>T

NOD2 transcript variant X13 XM_017023538.1:c....

XM_017023538.1:c.1168G=

XM_017023538.1:c....

XM_017023538.1:c.1168G>A

XM_017023538.1:c....

XM_017023538.1:c.1168G>T

NOD2 transcript variant X6 XM_017023537.1:c....

XM_017023537.1:c.1168G=

XM_017023537.1:c....

XM_017023537.1:c.1168G>A

XM_017023537.1:c....

XM_017023537.1:c.1168G>T

nucleotide-binding oligomerization domain-containing protein 2 isoform 1 NP_071445.1:p.Ala...

NP_071445.1:p.Ala612=

NP_071445.1:p.Ala...

NP_071445.1:p.Ala612Thr

NP_071445.1:p.Ala...

NP_071445.1:p.Ala612Ser

nucleotide-binding oligomerization domain-containing protein 2 isoform 2 NP_001280486.1:p....

NP_001280486.1:p.Ala585=

NP_001280486.1:p....

NP_001280486.1:p.Ala585Thr

NP_001280486.1:p....

NP_001280486.1:p.Ala585Ser

nucleotide-binding oligomerization domain-containing protein 2 isoform X1 XP_005256141.1:p....

XP_005256141.1:p.Ala585=

XP_005256141.1:p....

XP_005256141.1:p.Ala585Thr

XP_005256141.1:p....

XP_005256141.1:p.Ala585Ser

nucleotide-binding oligomerization domain-containing protein 2 isoform X2 XP_006721305.1:p....

XP_006721305.1:p.Ala585=

XP_006721305.1:p....

XP_006721305.1:p.Ala585Thr

XP_006721305.1:p....

XP_006721305.1:p.Ala585Ser

nucleotide-binding oligomerization domain-containing protein 2 isoform X5 XP_006721306.1:p....

XP_006721306.1:p.Ala585=

XP_006721306.1:p....

XP_006721306.1:p.Ala585Thr

XP_006721306.1:p....

XP_006721306.1:p.Ala585Ser

nucleotide-binding oligomerization domain-containing protein 2 isoform X6 XP_011521562.1:p....

XP_011521562.1:p.Ala585=

XP_011521562.1:p....

XP_011521562.1:p.Ala585Thr

XP_011521562.1:p....

XP_011521562.1:p.Ala585Ser

nucleotide-binding oligomerization domain-containing protein 2 isoform X4 XP_011521561.1:p....

XP_011521561.1:p.Ala390=

XP_011521561.1:p....

XP_011521561.1:p.Ala390Thr

XP_011521561.1:p....

XP_011521561.1:p.Ala390Ser

nucleotide-binding oligomerization domain-containing protein 2 isoform X7 XP_011521563.1:p....

XP_011521563.1:p.Ala585=

XP_011521563.1:p....

XP_011521563.1:p.Ala585Thr

XP_011521563.1:p....

XP_011521563.1:p.Ala585Ser

nucleotide-binding oligomerization domain-containing protein 2 isoform X3 XP_016879024.1:p....

XP_016879024.1:p.Ala421=

XP_016879024.1:p....

XP_016879024.1:p.Ala421Thr

XP_016879024.1:p....

XP_016879024.1:p.Ala421Ser

nucleotide-binding oligomerization domain-containing protein 2 isoform X4 XP_016879025.1:p....

XP_016879025.1:p.Ala390=

XP_016879025.1:p....

XP_016879025.1:p.Ala390Thr

XP_016879025.1:p....

XP_016879025.1:p.Ala390Ser

nucleotide-binding oligomerization domain-containing protein 2 isoform X4 XP_016879027.1:p....

XP_016879027.1:p.Ala390=

XP_016879027.1:p....

XP_016879027.1:p.Ala390Thr

XP_016879027.1:p....

XP_016879027.1:p.Ala390Ser

nucleotide-binding oligomerization domain-containing protein 2 isoform X4 XP_016879026.1:p....

XP_016879026.1:p.Ala390=

XP_016879026.1:p....

XP_016879026.1:p.Ala390Thr

XP_016879026.1:p....

XP_016879026.1:p.Ala390Ser

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#.

25 SubSNP, 7 Frequency, 5 ClinVar submissions
No Submitter Submission ID Date (Build)
1 UMAI ss244254993 Jun 07, 2010 (132)
2 OMIM-CURATED-RECORDS ss262857621 Sep 17, 2010 (132)
3 EXOME_CHIP ss491508204 May 04, 2012 (137)
4 CLINSEQ_SNP ss491718527 May 04, 2012 (137)
5 SSMP ss660664064 Apr 25, 2013 (138)
6 NHLBI-ESP ss713309819 Apr 25, 2013 (138)
7 EVA_UK10K_ALSPAC ss1634397490 Apr 01, 2015 (144)
8 EVA_UK10K_TWINSUK ss1677391523 Apr 01, 2015 (144)
9 EVA_EXAC ss1692296020 Apr 01, 2015 (144)
10 EVA_EXAC ss1692296021 Apr 01, 2015 (144)
11 ILLUMINA ss1959677450 Feb 12, 2016 (147)
12 ILLUMINA ss2094890557 Dec 20, 2016 (150)
13 HUMAN_LONGEVITY ss2212068721 Dec 20, 2016 (150)
14 TOPMED ss2376990786 Dec 20, 2016 (150)
15 TOPMED ss2376990787 Dec 20, 2016 (150)
16 GRF ss2701697283 Nov 08, 2017 (151)
17 GNOMAD ss2741975770 Nov 08, 2017 (151)
18 GNOMAD ss2749540122 Nov 08, 2017 (151)
19 GNOMAD ss2942900684 Nov 08, 2017 (151)
20 AFFY ss2985068301 Nov 08, 2017 (151)
21 ILLUMINA ss3021704750 Nov 08, 2017 (151)
22 TOPMED ss3246274296 Nov 08, 2017 (151)
23 TOPMED ss3246274297 Nov 08, 2017 (151)
24 ILLUMINA ss3652113239 Oct 12, 2018 (152)
25 ILLUMINA ss3653840073 Oct 12, 2018 (152)
26 The Avon Longitudinal Study of Parents and Children NC_000016.9 - 50745656 Oct 12, 2018 (152)
27 ExAC

Submission ignored due to conflicting rows:
Row 2703270 (NC_000016.9:50745655:G:G 121103/121180, NC_000016.9:50745655:G:A 77/121180)
Row 2703271 (NC_000016.9:50745655:G:G 121175/121180, NC_000016.9:50745655:G:T 5/121180)

- Oct 12, 2018 (152)
28 ExAC

Submission ignored due to conflicting rows:
Row 2703270 (NC_000016.9:50745655:G:G 121103/121180, NC_000016.9:50745655:G:A 77/121180)
Row 2703271 (NC_000016.9:50745655:G:G 121175/121180, NC_000016.9:50745655:G:T 5/121180)

- Oct 12, 2018 (152)
29 gnomAD - Genomes NC_000016.9 - 50745656 Oct 12, 2018 (152)
30 gnomAD - Exomes NC_000016.9 - 50745656 Oct 12, 2018 (152)
31 TopMed NC_000016.10 - 50711745 Oct 12, 2018 (152)
32 UK 10K study - Twins NC_000016.9 - 50745656 Oct 12, 2018 (152)
33 ClinVar RCV000004965.6 Oct 12, 2018 (152)
34 ClinVar RCV000271343.1 Oct 12, 2018 (152)
35 ClinVar RCV000293577.1 Oct 12, 2018 (152)
36 ClinVar RCV000328692.7 Oct 12, 2018 (152)
37 ClinVar RCV000385541.1 Oct 12, 2018 (152)
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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
ss491718527, ss2094890557 NC_000016.8:49303156:G:A NC_000016.10:50711744:G:A (self)
38471821, 76602211, 8875817, 38471821, ss491508204, ss713309819, ss1634397490, ss1677391523, ss1692296020, ss1959677450, ss2376990786, ss2701697283, ss2741975770, ss2749540122, ss2942900684, ss2985068301, ss3021704750, ss3652113239, ss3653840073 NC_000016.9:50745655:G:A NC_000016.10:50711744:G:A (self)
RCV000004965.6, RCV000271343.1, RCV000328692.7, 143971096, ss244254993, ss262857621, ss2212068721, ss3246274296 NC_000016.10:50711744:G:A NC_000016.10:50711744:G:A (self)
76602211, 8875817, ss660664064, ss1692296021, ss2376990787, ss2741975770, ss2749540122, ss2942900684 NC_000016.9:50745655:G:T NC_000016.10:50711744:G:T (self)
RCV000293577.1, RCV000385541.1, ss2212068721, ss3246274297 NC_000016.10:50711744:G:T NC_000016.10:50711744:G:T (self)
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Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

5 citations for rs104895438
PMID Title Author Year Journal
11385576 Association of NOD2 leucine-rich repeat variants with susceptibility to Crohn's disease. Hugot JP et al. 2001 Nature
11875755 CARD15/NOD2 mutational analysis and genotype-phenotype correlation in 612 patients with inflammatory bowel disease. Lesage S et al. 2002 American journal of human genetics
12626759 Gene-environment interaction modulated by allelic heterogeneity in inflammatory diseases. Chamaillard M et al. 2003 Proceedings of the National Academy of Sciences of the United States of America
15459013 Early-onset sarcoidosis and CARD15 mutations with constitutive nuclear factor-kappaB activation: common genetic etiology with Blau syndrome. Kanazawa N et al. 2005 Blood
23334666 The genetic landscape of high-risk neuroblastoma. Pugh TJ et al. 2013 Nature genetics

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.post104+4a6ee9c