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dbSNP Short Genetic Variations

Examples: rs268, BRCA1 and more Advanced search

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.

rs17848757

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr17:37244710 (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=0.000008 (2/264690, TOPMED)
A=0.000004 (1/251482, GnomAD_exome)
A=0.000016 (2/121408, ExAC) (+ 5 more)
A=0.00000 (0/29956, ALFA)
A=0.00018 (5/28258, 14KJPN)
A=0.00024 (4/16760, 8.3KJPN)
A=0.0014 (4/2922, KOREAN)
A=0.0019 (2/1076, Korea1K)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ACACA : Missense Variant
SNORA90 : 2KB Upstream Variant
Publications
1 citation
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 29956 G=1.00000 A=0.00000
European Sub 22826 G=1.00000 A=0.00000
African Sub 4588 G=1.0000 A=0.0000
African Others Sub 180 G=1.000 A=0.000
African American Sub 4408 G=1.0000 A=0.0000
Asian Sub 416 G=1.000 A=0.000
East Asian Sub 354 G=1.000 A=0.000
Other Asian Sub 62 G=1.00 A=0.00
Latin American 1 Sub 498 G=1.000 A=0.000
Latin American 2 Sub 802 G=1.000 A=0.000
South Asian Sub 144 G=1.000 A=0.000
Other Sub 682 G=1.000 A=0.000


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=0.999992 A=0.000008
gnomAD - Exomes Global Study-wide 251482 G=0.999996 A=0.000004
gnomAD - Exomes European Sub 135412 G=1.000000 A=0.000000
gnomAD - Exomes Asian Sub 49004 G=0.99998 A=0.00002
gnomAD - Exomes American Sub 34592 G=1.00000 A=0.00000
gnomAD - Exomes African Sub 16256 G=1.00000 A=0.00000
gnomAD - Exomes Ashkenazi Jewish Sub 10080 G=1.00000 A=0.00000
gnomAD - Exomes Other Sub 6138 G=1.0000 A=0.0000
ExAC Global Study-wide 121408 G=0.999984 A=0.000016
ExAC Europe Sub 73354 G=1.00000 A=0.00000
ExAC Asian Sub 25162 G=0.99992 A=0.00008
ExAC American Sub 11578 G=1.00000 A=0.00000
ExAC African Sub 10406 G=1.00000 A=0.00000
ExAC Other Sub 908 G=1.000 A=0.000
Allele Frequency Aggregator Total Global 29956 G=1.00000 A=0.00000
Allele Frequency Aggregator European Sub 22826 G=1.00000 A=0.00000
Allele Frequency Aggregator African Sub 4588 G=1.0000 A=0.0000
Allele Frequency Aggregator Latin American 2 Sub 802 G=1.000 A=0.000
Allele Frequency Aggregator Other Sub 682 G=1.000 A=0.000
Allele Frequency Aggregator Latin American 1 Sub 498 G=1.000 A=0.000
Allele Frequency Aggregator Asian Sub 416 G=1.000 A=0.000
Allele Frequency Aggregator South Asian Sub 144 G=1.000 A=0.000
14KJPN JAPANESE Study-wide 28258 G=0.99982 A=0.00018
8.3KJPN JAPANESE Study-wide 16760 G=0.99976 A=0.00024
KOREAN population from KRGDB KOREAN Study-wide 2922 G=0.9986 A=0.0014
Korean Genome Project KOREAN Study-wide 1076 G=0.9981 A=0.0019
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 17 NC_000017.11:g.37244710G>A
ACACA RefSeqGene NG_023295.2:g.167102C>T
GRCh38.p14 chr 17 alt locus HSCHR17_7_CTG4 NT_187614.1:g.1480691G>A
GRCh37.p13 chr 17 NC_000017.10:g.35601626G>A
Gene: ACACA, acetyl-CoA carboxylase alpha (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ACACA transcript variant 1 NM_198834.3:c.2620C>T P [CCA] > S [TCA] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform 1 NP_942131.1:p.Pro874Ser P (Pro) > S (Ser) Missense Variant
ACACA transcript variant 3 NM_198836.3:c.2509C>T P [CCA] > S [TCA] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform 2 NP_942133.1:p.Pro837Ser P (Pro) > S (Ser) Missense Variant
ACACA transcript variant 4 NM_198837.2:c.2335C>T P [CCA] > S [TCA] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform 3 NP_942134.1:p.Pro779Ser P (Pro) > S (Ser) Missense Variant
ACACA transcript variant 2 NM_198839.3:c.2509C>T P [CCA] > S [TCA] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform 2 NP_942136.1:p.Pro837Ser P (Pro) > S (Ser) Missense Variant
ACACA transcript variant 5 NM_198838.2:c.2275C>T P [CCA] > S [TCA] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform 4 NP_942135.1:p.Pro759Ser P (Pro) > S (Ser) Missense Variant
ACACA transcript variant X14 XM_011524703.1:c.2509C>T P [CCA] > S [TCA] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform X3 XP_011523005.1:p.Pro837Ser P (Pro) > S (Ser) Missense Variant
ACACA transcript variant X1 XM_006721853.2:c.2620C>T P [CCA] > S [TCA] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform X1 XP_006721916.1:p.Pro874Ser P (Pro) > S (Ser) Missense Variant
ACACA transcript variant X2 XM_011524701.2:c.2530C>T P [CCA] > S [TCA] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform X2 XP_011523003.1:p.Pro844Ser P (Pro) > S (Ser) Missense Variant
ACACA transcript variant X15 XM_047435878.1:c.2509C>T P [CCA] > S [TCA] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform X3 XP_047291834.1:p.Pro837Ser P (Pro) > S (Ser) Missense Variant
ACACA transcript variant X16 XM_047435879.1:c.2509C>T P [CCA] > S [TCA] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform X3 XP_047291835.1:p.Pro837Ser P (Pro) > S (Ser) Missense Variant
ACACA transcript variant X17 XM_047435880.1:c.2509C>T P [CCA] > S [TCA] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform X3 XP_047291836.1:p.Pro837Ser P (Pro) > S (Ser) Missense Variant
ACACA transcript variant X18 XM_047435881.1:c.2509C>T P [CCA] > S [TCA] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform X3 XP_047291837.1:p.Pro837Ser P (Pro) > S (Ser) Missense Variant
ACACA transcript variant X3 XM_047435882.1:c.2509C>T P [CCA] > S [TCA] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform X3 XP_047291838.1:p.Pro837Ser P (Pro) > S (Ser) Missense Variant
ACACA transcript variant X19 XM_047435883.1:c.2509C>T P [CCA] > S [TCA] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform X3 XP_047291839.1:p.Pro837Ser P (Pro) > S (Ser) Missense Variant
ACACA transcript variant X4 XM_047435884.1:c.2509C>T P [CCA] > S [TCA] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform X4 XP_047291840.1:p.Pro837Ser P (Pro) > S (Ser) Missense Variant
ACACA transcript variant X5 XM_047435885.1:c.2509C>T P [CCA] > S [TCA] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform X4 XP_047291841.1:p.Pro837Ser P (Pro) > S (Ser) Missense Variant
ACACA transcript variant X20 XM_047435886.1:c.2335C>T P [CCA] > S [TCA] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform X8 XP_047291842.1:p.Pro779Ser P (Pro) > S (Ser) Missense Variant
ACACA transcript variant X7 XM_047435888.1:c.2332C>T P [CCA] > S [TCA] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform X5 XP_047291844.1:p.Pro778Ser P (Pro) > S (Ser) Missense Variant
ACACA transcript variant X6 XM_047435889.1:c.2332C>T P [CCA] > S [TCA] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform X5 XP_047291845.1:p.Pro778Ser P (Pro) > S (Ser) Missense Variant
ACACA transcript variant X10 XM_047435890.1:c.2275C>T P [CCA] > S [TCA] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform X6 XP_047291846.1:p.Pro759Ser P (Pro) > S (Ser) Missense Variant
ACACA transcript variant X8 XM_005257267.6:c.2275C>T P [CCA] > S [TCA] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform X6 XP_005257324.1:p.Pro759Ser P (Pro) > S (Ser) Missense Variant
ACACA transcript variant X9 XM_011524704.3:c.2275C>T P [CCA] > S [TCA] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform X6 XP_011523006.1:p.Pro759Ser P (Pro) > S (Ser) Missense Variant
ACACA transcript variant X12 XM_047435891.1:c.2275C>T P [CCA] > S [TCA] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform X7 XP_047291847.1:p.Pro759Ser P (Pro) > S (Ser) Missense Variant
ACACA transcript variant X11 XM_047435892.1:c.2275C>T P [CCA] > S [TCA] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform X7 XP_047291848.1:p.Pro759Ser P (Pro) > S (Ser) Missense Variant
ACACA transcript variant X13 XM_047435893.1:c.2275C>T P [CCA] > S [TCA] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform X7 XP_047291849.1:p.Pro759Ser P (Pro) > S (Ser) Missense Variant
ACACA transcript variant X21 XM_047435894.1:c.2620C>T P [CCA] > S [TCA] Coding Sequence Variant
acetyl-CoA carboxylase 1 isoform X9 XP_047291850.1:p.Pro874Ser P (Pro) > S (Ser) Missense Variant
Gene: SNORA90, small nucleolar RNA, H/ACA box 90 (plus strand) : 2KB Upstream Variant
Molecule type Change Amino acid[Codon] SO Term
SNORA90 transcript NR_132772.1:n. N/A Upstream 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.

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 17 NC_000017.11:g.37244710= NC_000017.11:g.37244710G>A
ACACA RefSeqGene NG_023295.2:g.167102= NG_023295.2:g.167102C>T
ACACA transcript variant 2 NM_198839.3:c.2509= NM_198839.3:c.2509C>T
ACACA transcript variant 2 NM_198839.2:c.2509= NM_198839.2:c.2509C>T
ACACA transcript variant 2 NM_198839.1:c.2509= NM_198839.1:c.2509C>T
ACACA transcript variant 1 NM_198834.3:c.2620= NM_198834.3:c.2620C>T
ACACA transcript variant 1 NM_198834.2:c.2620= NM_198834.2:c.2620C>T
ACACA transcript variant 1 NM_198834.1:c.2620= NM_198834.1:c.2620C>T
ACACA transcript variant 3 NM_198836.3:c.2509= NM_198836.3:c.2509C>T
ACACA transcript variant 3 NM_198836.2:c.2509= NM_198836.2:c.2509C>T
ACACA transcript variant 3 NM_198836.1:c.2509= NM_198836.1:c.2509C>T
ACACA transcript variant 5 NM_198838.2:c.2275= NM_198838.2:c.2275C>T
ACACA transcript variant 5 NM_198838.1:c.2275= NM_198838.1:c.2275C>T
ACACA transcript variant 4 NM_198837.2:c.2335= NM_198837.2:c.2335C>T
ACACA transcript variant 4 NM_198837.1:c.2335= NM_198837.1:c.2335C>T
GRCh38.p14 chr 17 alt locus HSCHR17_7_CTG4 NT_187614.1:g.1480691= NT_187614.1:g.1480691G>A
GRCh37.p13 chr 17 NC_000017.10:g.35601626= NC_000017.10:g.35601626G>A
ACACA transcript variant X8 XM_005257267.6:c.2275= XM_005257267.6:c.2275C>T
ACACA transcript variant X7 XM_005257267.5:c.2275= XM_005257267.5:c.2275C>T
ACACA transcript variant X7 XM_005257267.4:c.2275= XM_005257267.4:c.2275C>T
ACACA transcript variant X8 XM_005257267.3:c.2275= XM_005257267.3:c.2275C>T
ACACA transcript variant X2 XM_005257267.2:c.2275= XM_005257267.2:c.2275C>T
ACACA transcript variant X2 XM_005257267.1:c.2275= XM_005257267.1:c.2275C>T
ACACA transcript variant X9 XM_011524704.3:c.2275= XM_011524704.3:c.2275C>T
ACACA transcript variant X8 XM_011524704.2:c.2275= XM_011524704.2:c.2275C>T
ACACA transcript variant X9 XM_011524704.1:c.2275= XM_011524704.1:c.2275C>T
ACACA transcript variant 6 NM_000664.3:c.*2386= NM_000664.3:c.*2386C>T
ACACA transcript variant X1 XM_006721853.2:c.2620= XM_006721853.2:c.2620C>T
ACACA transcript variant X3 XM_006721853.1:c.2620= XM_006721853.1:c.2620C>T
ACACA transcript NM_000664.2:c.2509= NM_000664.2:c.2509C>T
ACACA transcript variant X2 XM_011524701.2:c.2530= XM_011524701.2:c.2530C>T
ACACA transcript variant X4 XM_011524701.1:c.2530= XM_011524701.1:c.2530C>T
ACACA transcript variant X16 XM_047435879.1:c.2509= XM_047435879.1:c.2509C>T
ACACA transcript variant X18 XM_047435881.1:c.2509= XM_047435881.1:c.2509C>T
ACACA transcript variant X19 XM_047435883.1:c.2509= XM_047435883.1:c.2509C>T
ACACA transcript variant X6 XM_047435889.1:c.2332= XM_047435889.1:c.2332C>T
ACACA transcript variant X20 XM_047435886.1:c.2335= XM_047435886.1:c.2335C>T
ACACA transcript variant X13 XM_047435893.1:c.2275= XM_047435893.1:c.2275C>T
ACACA transcript variant X12 XM_047435891.1:c.2275= XM_047435891.1:c.2275C>T
ACACA transcript variant X11 XM_047435892.1:c.2275= XM_047435892.1:c.2275C>T
ACACA transcript variant X7 XM_047435888.1:c.2332= XM_047435888.1:c.2332C>T
ACACA transcript NM_000664.1:c.2509= NM_000664.1:c.2509C>T
ACACA transcript variant X3 XM_047435882.1:c.2509= XM_047435882.1:c.2509C>T
ACACA transcript variant 7 NM_198835.1:c.*2386= NM_198835.1:c.*2386C>T
ACACA transcript variant X17 XM_047435880.1:c.2509= XM_047435880.1:c.2509C>T
ACACA transcript variant X15 XM_047435878.1:c.2509= XM_047435878.1:c.2509C>T
ACACA transcript variant X14 XM_011524703.1:c.2509= XM_011524703.1:c.2509C>T
ACACA transcript variant X5 XM_047435885.1:c.2509= XM_047435885.1:c.2509C>T
ACACA transcript variant X4 XM_047435884.1:c.2509= XM_047435884.1:c.2509C>T
ACACA transcript variant X10 XM_047435890.1:c.2275= XM_047435890.1:c.2275C>T
ACACA transcript variant X21 XM_047435894.1:c.2620= XM_047435894.1:c.2620C>T
acetyl-CoA carboxylase 1 isoform 2 NP_942136.1:p.Pro837= NP_942136.1:p.Pro837Ser
acetyl-CoA carboxylase 1 isoform 1 NP_942131.1:p.Pro874= NP_942131.1:p.Pro874Ser
acetyl-CoA carboxylase 1 isoform 2 NP_942133.1:p.Pro837= NP_942133.1:p.Pro837Ser
acetyl-CoA carboxylase 1 isoform 4 NP_942135.1:p.Pro759= NP_942135.1:p.Pro759Ser
acetyl-CoA carboxylase 1 isoform 3 NP_942134.1:p.Pro779= NP_942134.1:p.Pro779Ser
acetyl-CoA carboxylase 1 isoform X6 XP_005257324.1:p.Pro759= XP_005257324.1:p.Pro759Ser
acetyl-CoA carboxylase 1 isoform X6 XP_011523006.1:p.Pro759= XP_011523006.1:p.Pro759Ser
acetyl-CoA carboxylase 1 isoform X1 XP_006721916.1:p.Pro874= XP_006721916.1:p.Pro874Ser
acetyl-CoA carboxylase 1 isoform X2 XP_011523003.1:p.Pro844= XP_011523003.1:p.Pro844Ser
acetyl-CoA carboxylase 1 isoform X3 XP_047291835.1:p.Pro837= XP_047291835.1:p.Pro837Ser
acetyl-CoA carboxylase 1 isoform X3 XP_047291837.1:p.Pro837= XP_047291837.1:p.Pro837Ser
acetyl-CoA carboxylase 1 isoform X3 XP_047291839.1:p.Pro837= XP_047291839.1:p.Pro837Ser
acetyl-CoA carboxylase 1 isoform X5 XP_047291845.1:p.Pro778= XP_047291845.1:p.Pro778Ser
acetyl-CoA carboxylase 1 isoform X8 XP_047291842.1:p.Pro779= XP_047291842.1:p.Pro779Ser
acetyl-CoA carboxylase 1 isoform X7 XP_047291849.1:p.Pro759= XP_047291849.1:p.Pro759Ser
acetyl-CoA carboxylase 1 isoform X7 XP_047291847.1:p.Pro759= XP_047291847.1:p.Pro759Ser
acetyl-CoA carboxylase 1 isoform X7 XP_047291848.1:p.Pro759= XP_047291848.1:p.Pro759Ser
acetyl-CoA carboxylase 1 isoform X5 XP_047291844.1:p.Pro778= XP_047291844.1:p.Pro778Ser
acetyl-CoA carboxylase 1 isoform X3 XP_047291838.1:p.Pro837= XP_047291838.1:p.Pro837Ser
acetyl-CoA carboxylase 1 isoform X3 XP_047291836.1:p.Pro837= XP_047291836.1:p.Pro837Ser
acetyl-CoA carboxylase 1 isoform X3 XP_047291834.1:p.Pro837= XP_047291834.1:p.Pro837Ser
acetyl-CoA carboxylase 1 isoform X3 XP_011523005.1:p.Pro837= XP_011523005.1:p.Pro837Ser
acetyl-CoA carboxylase 1 isoform X4 XP_047291841.1:p.Pro837= XP_047291841.1:p.Pro837Ser
acetyl-CoA carboxylase 1 isoform X4 XP_047291840.1:p.Pro837= XP_047291840.1:p.Pro837Ser
acetyl-CoA carboxylase 1 isoform X6 XP_047291846.1:p.Pro759= XP_047291846.1:p.Pro759Ser
acetyl-CoA carboxylase 1 isoform X9 XP_047291850.1:p.Pro874= XP_047291850.1:p.Pro874Ser
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#.

11 SubSNP, 8 Frequency submissions
No Submitter Submission ID Date (Build)
1 IMCJ-GDT ss28503059 Sep 24, 2004 (123)
2 ILLUMINA ss160460444 Dec 01, 2009 (131)
3 ILLUMINA ss481057626 Sep 08, 2015 (146)
4 EVA_EXAC ss1692731796 Apr 01, 2015 (144)
5 GNOMAD ss2742643049 Nov 08, 2017 (151)
6 ILLUMINA ss3636362883 Oct 12, 2018 (152)
7 KRGDB ss3935344466 Apr 27, 2020 (154)
8 KOGIC ss3978789756 Apr 27, 2020 (154)
9 TOPMED ss5034794956 Apr 27, 2021 (155)
10 TOMMO_GENOMICS ss5222242864 Apr 27, 2021 (155)
11 TOMMO_GENOMICS ss5778397561 Oct 16, 2022 (156)
12 ExAC NC_000017.10 - 35601626 Oct 12, 2018 (152)
13 gnomAD - Exomes NC_000017.10 - 35601626 Jul 13, 2019 (153)
14 KOREAN population from KRGDB NC_000017.10 - 35601626 Apr 27, 2020 (154)
15 Korean Genome Project NC_000017.11 - 37244710 Apr 27, 2020 (154)
16 8.3KJPN NC_000017.10 - 35601626 Apr 27, 2021 (155)
17 14KJPN NC_000017.11 - 37244710 Oct 16, 2022 (156)
18 TopMed NC_000017.11 - 37244710 Apr 27, 2021 (155)
19 ALFA NC_000017.11 - 37244710 Apr 27, 2021 (155)
Help

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
3171448, 11946603, 42521860, 80212171, ss481057626, ss1692731796, ss2742643049, ss3636362883, ss3935344466, ss5222242864 NC_000017.10:35601625:G:A NC_000017.11:37244709:G:A (self)
35167757, 112234665, 250340618, 7759632418, ss3978789756, ss5034794956, ss5778397561 NC_000017.11:37244709:G:A NC_000017.11:37244709:G:A (self)
ss28503059, ss160460444 NT_010783.15:875777:G:A NC_000017.11:37244709: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.

1 citation for rs17848757
PMID Title Author Year Journal
19846279 Acetyl-coenzyme A carboxylase alpha gene variations may be associated with the direct effects of some antipsychotics on triglyceride levels. Diaz FJ et al. 2009 Schizophrenia research
Help

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:
Select flank length:

Genomic regions, transcripts, and products
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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