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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.

rs5888

Current Build 153

Released July 9, 2019

Organism
Homo sapiens
Position
chr12:124800202 (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
A>G / A>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.36359 (45655/125568, TOPMED)
A=0.41478 (50298/121264, ExAC)
A=0.3640 (11385/31274, GnomAD) (+ 7 more)
A=0.3816 (4963/13006, GO-ESP)
A=0.323 (1617/5008, 1000G)
A=0.412 (1844/4480, Estonian)
A=0.486 (1872/3854, ALSPAC)
A=0.480 (1781/3708, TWINSUK)
A=0.21 (128/610, Vietnamese)
A=0.49 (294/600, NorthernSweden)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
SCARB1 : Synonymous Variant
Publications
36 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 12 NC_000012.12:g.124800202A>G
GRCh38.p12 chr 12 NC_000012.12:g.124800202A>T
GRCh37.p13 chr 12 NC_000012.11:g.125284748A>G
GRCh37.p13 chr 12 NC_000012.11:g.125284748A>T
SCARB1 RefSeqGene NG_028199.1:g.68772T>C
SCARB1 RefSeqGene NG_028199.1:g.68772T>A
Gene: SCARB1, scavenger receptor class B member 1 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
SCARB1 transcript variant 9 NM_001367987.1:c. N/A Intron Variant
SCARB1 transcript variant 10 NM_001367988.1:c. N/A Intron Variant
SCARB1 transcript variant 1 NM_005505.5:c.1050T>C A [GCT] > A [GCC] Coding Sequence Variant
scavenger receptor class B member 1 isoform 1 NP_005496.4:p.Ala350= A (Ala) > A (Ala) Synonymous Variant
SCARB1 transcript variant 1 NM_005505.5:c.1050T>A A [GCT] > A [GCA] Coding Sequence Variant
scavenger receptor class B member 1 isoform 1 NP_005496.4:p.Ala350= A (Ala) > A (Ala) Synonymous Variant
SCARB1 transcript variant 6 NM_001367984.1:c.1050T>C A [GCT] > A [GCC] Coding Sequence Variant
scavenger receptor class B member 1 isoform 6 NP_001354913.1:p.Ala350= A (Ala) > A (Ala) Synonymous Variant
SCARB1 transcript variant 6 NM_001367984.1:c.1050T>A A [GCT] > A [GCA] Coding Sequence Variant
scavenger receptor class B member 1 isoform 6 NP_001354913.1:p.Ala350= A (Ala) > A (Ala) Synonymous Variant
SCARB1 transcript variant 3 NM_001367981.1:c.1050T>C A [GCT] > A [GCC] Coding Sequence Variant
scavenger receptor class B member 1 isoform 3 NP_001354910.1:p.Ala350= A (Ala) > A (Ala) Synonymous Variant
SCARB1 transcript variant 3 NM_001367981.1:c.1050T>A A [GCT] > A [GCA] Coding Sequence Variant
scavenger receptor class B member 1 isoform 3 NP_001354910.1:p.Ala350= A (Ala) > A (Ala) Synonymous Variant
SCARB1 transcript variant 4 NM_001367982.1:c.927T>C A [GCT] > A [GCC] Coding Sequence Variant
scavenger receptor class B member 1 isoform 4 NP_001354911.1:p.Ala309= A (Ala) > A (Ala) Synonymous Variant
SCARB1 transcript variant 4 NM_001367982.1:c.927T>A A [GCT] > A [GCA] Coding Sequence Variant
scavenger receptor class B member 1 isoform 4 NP_001354911.1:p.Ala309= A (Ala) > A (Ala) Synonymous Variant
SCARB1 transcript variant 5 NM_001367983.1:c.1050T>C A [GCT] > A [GCC] Coding Sequence Variant
scavenger receptor class B member 1 isoform 5 NP_001354912.1:p.Ala350= A (Ala) > A (Ala) Synonymous Variant
SCARB1 transcript variant 5 NM_001367983.1:c.1050T>A A [GCT] > A [GCA] Coding Sequence Variant
scavenger receptor class B member 1 isoform 5 NP_001354912.1:p.Ala350= A (Ala) > A (Ala) Synonymous Variant
SCARB1 transcript variant 8 NM_001367986.1:c.1050T>C A [GCT] > A [GCC] Coding Sequence Variant
scavenger receptor class B member 1 isoform 8 NP_001354915.1:p.Ala350= A (Ala) > A (Ala) Synonymous Variant
SCARB1 transcript variant 8 NM_001367986.1:c.1050T>A A [GCT] > A [GCA] Coding Sequence Variant
scavenger receptor class B member 1 isoform 8 NP_001354915.1:p.Ala350= A (Ala) > A (Ala) Synonymous Variant
SCARB1 transcript variant 7 NM_001367985.1:c.1026T>C A [GCT] > A [GCC] Coding Sequence Variant
scavenger receptor class B member 1 isoform 7 NP_001354914.1:p.Ala342= A (Ala) > A (Ala) Synonymous Variant
SCARB1 transcript variant 7 NM_001367985.1:c.1026T>A A [GCT] > A [GCA] Coding Sequence Variant
scavenger receptor class B member 1 isoform 7 NP_001354914.1:p.Ala342= A (Ala) > A (Ala) Synonymous Variant
SCARB1 transcript variant 13 NM_001367989.1:c.1050T>C A [GCT] > A [GCC] Coding Sequence Variant
scavenger receptor class B member 1 isoform 1 NP_001354918.1:p.Ala350= A (Ala) > A (Ala) Synonymous Variant
SCARB1 transcript variant 13 NM_001367989.1:c.1050T>A A [GCT] > A [GCA] Coding Sequence Variant
scavenger receptor class B member 1 isoform 1 NP_001354918.1:p.Ala350= A (Ala) > A (Ala) Synonymous Variant
SCARB1 transcript variant 2 NM_001082959.2:c.1050T>C A [GCT] > A [GCC] Coding Sequence Variant
scavenger receptor class B member 1 isoform 2 NP_001076428.1:p.Ala350= A (Ala) > A (Ala) Synonymous Variant
SCARB1 transcript variant 2 NM_001082959.2:c.1050T>A A [GCT] > A [GCA] Coding Sequence Variant
scavenger receptor class B member 1 isoform 2 NP_001076428.1:p.Ala350= A (Ala) > A (Ala) Synonymous Variant
SCARB1 transcript variant 20 NR_160424.1:n.1189T>C N/A Non Coding Transcript Variant
SCARB1 transcript variant 20 NR_160424.1:n.1189T>A N/A Non Coding Transcript Variant
SCARB1 transcript variant 16 NR_160420.1:n.1078T>C N/A Non Coding Transcript Variant
SCARB1 transcript variant 16 NR_160420.1:n.1078T>A N/A Non Coding Transcript Variant
SCARB1 transcript variant 12 NR_160417.1:n.1194T>C N/A Non Coding Transcript Variant
SCARB1 transcript variant 12 NR_160417.1:n.1194T>A N/A Non Coding Transcript Variant
SCARB1 transcript variant 15 NR_160419.1:n.1194T>C N/A Non Coding Transcript Variant
SCARB1 transcript variant 15 NR_160419.1:n.1194T>A N/A Non Coding Transcript Variant
SCARB1 transcript variant 18 NR_160422.1:n.1078T>C N/A Non Coding Transcript Variant
SCARB1 transcript variant 18 NR_160422.1:n.1078T>A N/A Non Coding Transcript Variant
SCARB1 transcript variant 11 NR_160416.1:n.1194T>C N/A Non Coding Transcript Variant
SCARB1 transcript variant 11 NR_160416.1:n.1194T>A N/A Non Coding Transcript Variant
SCARB1 transcript variant 14 NR_160418.1:n. N/A Intron Variant
SCARB1 transcript variant 17 NR_160421.1:n. N/A Intron Variant
SCARB1 transcript variant 19 NR_160423.1:n. N/A Intron Variant
Help

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar
Help

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 125568 A=0.36359 G=0.63641
ExAC Global Study-wide 121264 A=0.41478 G=0.58522
ExAC Europe Sub 73272 A=0.4709 G=0.5291
ExAC Asian Sub 25134 A=0.3952 G=0.6048
ExAC American Sub 11562 A=0.3064 G=0.6936
ExAC African Sub 10392 A=0.1877 G=0.8123
ExAC Other Sub 904 A=0.40 G=0.60
gnomAD - Genomes Global Study-wide 31274 A=0.3640 G=0.6360
gnomAD - Genomes European Sub 18816 A=0.4504 G=0.5496
gnomAD - Genomes African Sub 8694 A=0.186 G=0.814
gnomAD - Genomes East Asian Sub 1546 A=0.262 G=0.738
gnomAD - Genomes Other Sub 1082 A=0.433 G=0.567
gnomAD - Genomes American Sub 846 A=0.31 G=0.69
gnomAD - Genomes Ashkenazi Jewish Sub 290 A=0.53 G=0.47
GO Exome Sequencing Project Global Study-wide 13006 A=0.3816 G=0.6184
GO Exome Sequencing Project European American Sub 8600 A=0.483 G=0.517
GO Exome Sequencing Project African American Sub 4406 A=0.184 G=0.816
1000Genomes Global Study-wide 5008 A=0.323 G=0.677
1000Genomes African Sub 1322 A=0.169 G=0.831
1000Genomes East Asian Sub 1008 A=0.240 G=0.760
1000Genomes Europe Sub 1006 A=0.458 G=0.542
1000Genomes South Asian Sub 978 A=0.47 G=0.53
1000Genomes American Sub 694 A=0.33 G=0.67
Genetic variation in the Estonian population Estonian Study-wide 4480 A=0.412 G=0.588
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 A=0.486 G=0.514
UK 10K study - Twins TWIN COHORT Study-wide 3708 A=0.480 G=0.520
A Vietnamese Genetic Variation Database Global Study-wide 610 A=0.21 G=0.79
Northern Sweden ACPOP Study-wide 600 A=0.49 G=0.51
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 A= G T Note
GRCh38.p12 chr 12 NC_000012.12:g.12...

NC_000012.12:g.124800202=

NC_000012.12:g.12...

NC_000012.12:g.124800202A>G

NC_000012.12:g.12...

NC_000012.12:g.124800202A>T

GRCh37.p13 chr 12 NC_000012.11:g.12...

NC_000012.11:g.125284748=

NC_000012.11:g.12...

NC_000012.11:g.125284748A>G

NC_000012.11:g.12...

NC_000012.11:g.125284748A>T

SCARB1 RefSeqGene NG_028199.1:g.68772= NG_028199.1:g.687...

NG_028199.1:g.68772T>C

NG_028199.1:g.687...

NG_028199.1:g.68772T>A

SCARB1 transcript variant 1 NM_005505.5:c.1050= NM_005505.5:c.105...

NM_005505.5:c.1050T>C

NM_005505.5:c.105...

NM_005505.5:c.1050T>A

SCARB1 transcript variant 1 NM_005505.4:c.1050= NM_005505.4:c.105...

NM_005505.4:c.1050T>C

NM_005505.4:c.105...

NM_005505.4:c.1050T>A

SCARB1 transcript variant 2 NM_001082959.2:c....

NM_001082959.2:c.1050=

NM_001082959.2:c....

NM_001082959.2:c.1050T>C

NM_001082959.2:c....

NM_001082959.2:c.1050T>A

SCARB1 transcript variant 2 NM_001082959.1:c....

NM_001082959.1:c.1050=

NM_001082959.1:c....

NM_001082959.1:c.1050T>C

NM_001082959.1:c....

NM_001082959.1:c.1050T>A

SCARB1 transcript variant 3 NM_001367981.1:c....

NM_001367981.1:c.1050=

NM_001367981.1:c....

NM_001367981.1:c.1050T>C

NM_001367981.1:c....

NM_001367981.1:c.1050T>A

SCARB1 transcript variant 12 NR_160417.1:n.1194= NR_160417.1:n.119...

NR_160417.1:n.1194T>C

NR_160417.1:n.119...

NR_160417.1:n.1194T>A

SCARB1 transcript variant 13 NM_001367989.1:c....

NM_001367989.1:c.1050=

NM_001367989.1:c....

NM_001367989.1:c.1050T>C

NM_001367989.1:c....

NM_001367989.1:c.1050T>A

SCARB1 transcript variant 5 NM_001367983.1:c....

NM_001367983.1:c.1050=

NM_001367983.1:c....

NM_001367983.1:c.1050T>C

NM_001367983.1:c....

NM_001367983.1:c.1050T>A

SCARB1 transcript variant 11 NR_160416.1:n.1194= NR_160416.1:n.119...

NR_160416.1:n.1194T>C

NR_160416.1:n.119...

NR_160416.1:n.1194T>A

SCARB1 transcript variant 6 NM_001367984.1:c....

NM_001367984.1:c.1050=

NM_001367984.1:c....

NM_001367984.1:c.1050T>C

NM_001367984.1:c....

NM_001367984.1:c.1050T>A

SCARB1 transcript variant 7 NM_001367985.1:c....

NM_001367985.1:c.1026=

NM_001367985.1:c....

NM_001367985.1:c.1026T>C

NM_001367985.1:c....

NM_001367985.1:c.1026T>A

SCARB1 transcript variant 15 NR_160419.1:n.1194= NR_160419.1:n.119...

NR_160419.1:n.1194T>C

NR_160419.1:n.119...

NR_160419.1:n.1194T>A

SCARB1 transcript variant 8 NM_001367986.1:c....

NM_001367986.1:c.1050=

NM_001367986.1:c....

NM_001367986.1:c.1050T>C

NM_001367986.1:c....

NM_001367986.1:c.1050T>A

SCARB1 transcript variant 18 NR_160422.1:n.1078= NR_160422.1:n.107...

NR_160422.1:n.1078T>C

NR_160422.1:n.107...

NR_160422.1:n.1078T>A

SCARB1 transcript variant 20 NR_160424.1:n.1189= NR_160424.1:n.118...

NR_160424.1:n.1189T>C

NR_160424.1:n.118...

NR_160424.1:n.1189T>A

SCARB1 transcript variant 16 NR_160420.1:n.1078= NR_160420.1:n.107...

NR_160420.1:n.1078T>C

NR_160420.1:n.107...

NR_160420.1:n.1078T>A

SCARB1 transcript variant 4 NM_001367982.1:c....

NM_001367982.1:c.927=

NM_001367982.1:c....

NM_001367982.1:c.927T>C

NM_001367982.1:c....

NM_001367982.1:c.927T>A

scavenger receptor class B member 1 isoform 1 NP_005496.4:p.Ala...

NP_005496.4:p.Ala350=

NP_005496.4:p.Ala...

NP_005496.4:p.Ala350=

NP_005496.4:p.Ala...

NP_005496.4:p.Ala350=

scavenger receptor class B member 1 isoform 2 NP_001076428.1:p....

NP_001076428.1:p.Ala350=

NP_001076428.1:p....

NP_001076428.1:p.Ala350=

NP_001076428.1:p....

NP_001076428.1:p.Ala350=

scavenger receptor class B member 1 isoform 3 NP_001354910.1:p....

NP_001354910.1:p.Ala350=

NP_001354910.1:p....

NP_001354910.1:p.Ala350=

NP_001354910.1:p....

NP_001354910.1:p.Ala350=

scavenger receptor class B member 1 isoform 1 NP_001354918.1:p....

NP_001354918.1:p.Ala350=

NP_001354918.1:p....

NP_001354918.1:p.Ala350=

NP_001354918.1:p....

NP_001354918.1:p.Ala350=

scavenger receptor class B member 1 isoform 5 NP_001354912.1:p....

NP_001354912.1:p.Ala350=

NP_001354912.1:p....

NP_001354912.1:p.Ala350=

NP_001354912.1:p....

NP_001354912.1:p.Ala350=

scavenger receptor class B member 1 isoform 6 NP_001354913.1:p....

NP_001354913.1:p.Ala350=

NP_001354913.1:p....

NP_001354913.1:p.Ala350=

NP_001354913.1:p....

NP_001354913.1:p.Ala350=

scavenger receptor class B member 1 isoform 7 NP_001354914.1:p....

NP_001354914.1:p.Ala342=

NP_001354914.1:p....

NP_001354914.1:p.Ala342=

NP_001354914.1:p....

NP_001354914.1:p.Ala342=

scavenger receptor class B member 1 isoform 8 NP_001354915.1:p....

NP_001354915.1:p.Ala350=

NP_001354915.1:p....

NP_001354915.1:p.Ala350=

NP_001354915.1:p....

NP_001354915.1:p.Ala350=

scavenger receptor class B member 1 isoform 4 NP_001354911.1:p....

NP_001354911.1:p.Ala309=

NP_001354911.1:p....

NP_001354911.1:p.Ala309=

NP_001354911.1:p....

NP_001354911.1:p.Ala309=

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#.

114 SubSNP, 12 Frequency submissions
No Submitter Submission ID Date (Build)
1 KWOK ss1174092 Oct 05, 2000 (102)
2 KWOK ss1873427 Oct 18, 2000 (102)
3 SC_JCM ss2440224 Nov 09, 2000 (102)
4 AFFX ss2982402 Jun 15, 2001 (102)
5 YUSUKE ss3214159 Sep 28, 2001 (102)
6 WI_SSAHASNP ss12219262 Jul 11, 2003 (116)
7 ELEVY ss14660126 Dec 05, 2003 (119)
8 CSHL-HAPMAP ss16589558 Feb 27, 2004 (120)
9 SSAHASNP ss20954884 Apr 05, 2004 (123)
10 PERLEGEN ss24481122 Sep 20, 2004 (123)
11 APPLERA_GI ss48423134 Mar 13, 2006 (126)
12 ILLUMINA ss65743325 Oct 13, 2006 (127)
13 ILLUMINA ss74878548 Dec 07, 2007 (129)
14 AFFY ss76781939 Dec 07, 2007 (129)
15 HGSV ss82310164 Dec 14, 2007 (130)
16 HGSV ss82632301 Dec 14, 2007 (130)
17 CANCER-GENOME ss86344031 Mar 23, 2008 (129)
18 GI-BIOTEC ss86354035 Mar 23, 2008 (129)
19 BCMHGSC_JDW ss89439582 Mar 24, 2008 (129)
20 HUMANGENOME_JCVI ss97259682 Feb 04, 2009 (130)
21 BGI ss103090140 Dec 01, 2009 (131)
22 KRIBB_YJKIM ss104796586 Feb 04, 2009 (130)
23 SNP500CANCER ss105438380 Feb 04, 2009 (130)
24 1000GENOMES ss112506664 Jan 25, 2009 (130)
25 KRIBB_YJKIM ss119337708 Dec 01, 2009 (131)
26 ILLUMINA-UK ss119762681 Dec 01, 2009 (131)
27 ENSEMBL ss132076764 Dec 01, 2009 (131)
28 ENSEMBL ss133407879 Dec 01, 2009 (131)
29 GMI ss158003181 Dec 01, 2009 (131)
30 SEATTLESEQ ss159727594 Dec 01, 2009 (131)
31 ILLUMINA ss160748317 Dec 01, 2009 (131)
32 COMPLETE_GENOMICS ss168761659 Jul 04, 2010 (132)
33 COMPLETE_GENOMICS ss171047635 Jul 04, 2010 (132)
34 ILLUMINA ss173934351 Jul 04, 2010 (132)
35 COMPLETE_GENOMICS ss175293136 Jul 04, 2010 (132)
36 BUSHMAN ss198807020 Jul 04, 2010 (132)
37 BCM-HGSC-SUB ss208289812 Jul 04, 2010 (132)
38 1000GENOMES ss211353620 Jul 14, 2010 (132)
39 1000GENOMES ss226010099 Jul 14, 2010 (132)
40 1000GENOMES ss236123648 Jul 15, 2010 (132)
41 1000GENOMES ss242645048 Jul 15, 2010 (132)
42 BL ss255376949 May 09, 2011 (134)
43 GMI ss281583572 May 04, 2012 (137)
44 GMI ss286642458 Apr 25, 2013 (138)
45 PJP ss291359231 May 09, 2011 (134)
46 NHLBI-ESP ss342370599 May 09, 2011 (134)
47 ILLUMINA ss481164401 May 04, 2012 (137)
48 ILLUMINA ss481186772 May 04, 2012 (137)
49 ILLUMINA ss482174831 Sep 08, 2015 (146)
50 ILLUMINA ss485377397 May 04, 2012 (137)
51 1000GENOMES ss491054983 May 04, 2012 (137)
52 CLINSEQ_SNP ss491675216 May 04, 2012 (137)
53 ILLUMINA ss536094521 Sep 08, 2015 (146)
54 TISHKOFF ss563466971 Apr 25, 2013 (138)
55 SSMP ss659053019 Apr 25, 2013 (138)
56 ILLUMINA ss778559799 Sep 08, 2015 (146)
57 ILLUMINA ss783134268 Sep 08, 2015 (146)
58 ILLUMINA ss784090653 Sep 08, 2015 (146)
59 ILLUMINA ss832393205 Sep 08, 2015 (146)
60 ILLUMINA ss834016653 Sep 08, 2015 (146)
61 EVA-GONL ss990060808 Aug 21, 2014 (142)
62 JMKIDD_LAB ss1067539264 Aug 21, 2014 (142)
63 JMKIDD_LAB ss1078843054 Aug 21, 2014 (142)
64 1000GENOMES ss1347031487 Aug 21, 2014 (142)
65 DDI ss1427083104 Apr 01, 2015 (144)
66 EVA_GENOME_DK ss1576584235 Apr 01, 2015 (144)
67 EVA_FINRISK ss1584085519 Apr 01, 2015 (144)
68 EVA_UK10K_ALSPAC ss1629652782 Apr 01, 2015 (144)
69 EVA_DECODE ss1642170889 Apr 01, 2015 (144)
70 EVA_UK10K_TWINSUK ss1672646815 Apr 01, 2015 (144)
71 EVA_EXAC ss1691185500 Apr 01, 2015 (144)
72 EVA_MGP ss1711347934 Apr 01, 2015 (144)
73 EVA_SVP ss1713365750 Apr 01, 2015 (144)
74 ILLUMINA ss1752052553 Sep 08, 2015 (146)
75 HAMMER_LAB ss1807464050 Sep 08, 2015 (146)
76 WEILL_CORNELL_DGM ss1933416266 Feb 12, 2016 (147)
77 GENOMED ss1967701532 Jul 19, 2016 (147)
78 JJLAB ss2027463738 Sep 14, 2016 (149)
79 USC_VALOUEV ss2155821484 Dec 20, 2016 (150)
80 HUMAN_LONGEVITY ss2194009478 Dec 20, 2016 (150)
81 TOPMED ss2358033994 Dec 20, 2016 (150)
82 SYSTEMSBIOZJU ss2628215283 Nov 08, 2017 (151)
83 ILLUMINA ss2633021745 Nov 08, 2017 (151)
84 GRF ss2700182237 Nov 08, 2017 (151)
85 GNOMAD ss2740252873 Nov 08, 2017 (151)
86 GNOMAD ss2748997070 Nov 08, 2017 (151)
87 GNOMAD ss2916307209 Nov 08, 2017 (151)
88 AFFY ss2984994913 Nov 08, 2017 (151)
89 SWEGEN ss3010512683 Nov 08, 2017 (151)
90 EVA_SAMSUNG_MC ss3023068094 Nov 08, 2017 (151)
91 BIOINF_KMB_FNS_UNIBA ss3027542322 Nov 08, 2017 (151)
92 TOPMED ss3184256722 Nov 08, 2017 (151)
93 CSHL ss3350294894 Nov 08, 2017 (151)
94 ILLUMINA ss3626992972 Oct 12, 2018 (152)
95 ILLUMINA ss3631027338 Oct 12, 2018 (152)
96 ILLUMINA ss3633037928 Oct 12, 2018 (152)
97 ILLUMINA ss3633739672 Oct 12, 2018 (152)
98 ILLUMINA ss3634529354 Oct 12, 2018 (152)
99 ILLUMINA ss3635430058 Oct 12, 2018 (152)
100 ILLUMINA ss3636215344 Oct 12, 2018 (152)
101 ILLUMINA ss3637181079 Oct 12, 2018 (152)
102 ILLUMINA ss3637993239 Oct 12, 2018 (152)
103 ILLUMINA ss3640236687 Oct 12, 2018 (152)
104 ILLUMINA ss3642984410 Oct 12, 2018 (152)
105 OMUKHERJEE_ADBS ss3646449195 Oct 12, 2018 (152)
106 URBANLAB ss3649941631 Oct 12, 2018 (152)
107 ILLUMINA ss3653765066 Oct 12, 2018 (152)
108 EGCUT_WGS ss3677812673 Jul 13, 2019 (153)
109 EVA_DECODE ss3694671208 Jul 13, 2019 (153)
110 ACPOP ss3739468231 Jul 13, 2019 (153)
111 ILLUMINA ss3744830154 Jul 13, 2019 (153)
112 EVA ss3751086440 Jul 13, 2019 (153)
113 ILLUMINA ss3772329316 Jul 13, 2019 (153)
114 KHV_HUMAN_GENOMES ss3816413679 Jul 13, 2019 (153)
115 1000Genomes NC_000012.11 - 125284748 Oct 12, 2018 (152)
116 The Avon Longitudinal Study of Parents and Children NC_000012.11 - 125284748 Oct 12, 2018 (152)
117 Genetic variation in the Estonian population NC_000012.11 - 125284748 Oct 12, 2018 (152)
118 ExAC NC_000012.11 - 125284748 Oct 12, 2018 (152)
119 gnomAD - Genomes NC_000012.11 - 125284748 Jul 13, 2019 (153)
120 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 9492962 (NC_000012.11:125284747:A:A 103464/251150, NC_000012.11:125284747:A:G 147686/251150)
Row 9492963 (NC_000012.11:125284747:A:A 251149/251150, NC_000012.11:125284747:A:T 1/251150)

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

Submission ignored due to conflicting rows:
Row 9492962 (NC_000012.11:125284747:A:A 103464/251150, NC_000012.11:125284747:A:G 147686/251150)
Row 9492963 (NC_000012.11:125284747:A:A 251149/251150, NC_000012.11:125284747:A:T 1/251150)

- Jul 13, 2019 (153)
122 GO Exome Sequencing Project NC_000012.11 - 125284748 Oct 12, 2018 (152)
123 Northern Sweden NC_000012.11 - 125284748 Jul 13, 2019 (153)
124 TopMed NC_000012.12 - 124800202 Oct 12, 2018 (152)
125 UK 10K study - Twins NC_000012.11 - 125284748 Oct 12, 2018 (152)
126 A Vietnamese Genetic Variation Database NC_000012.11 - 125284748 Jul 13, 2019 (153)
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)
rs838914 Jan 04, 2002 (102)
rs1059405 Jan 18, 2001 (92)
rs1623782 Jan 18, 2001 (92)
rs2070240 Sep 28, 2001 (100)
rs3200084 Jul 03, 2002 (106)
rs12827679 Sep 24, 2004 (123)
rs17694811 Oct 08, 2004 (123)
rs57373148 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss82310164, ss82632301 NC_000012.9:123809627:A:G NC_000012.12:124800201:A:G (self)
ss89439582, ss112506664, ss119762681, ss168761659, ss171047635, ss175293136, ss198807020, ss208289812, ss211353620, ss255376949, ss281583572, ss286642458, ss291359231, ss481164401, ss491675216, ss1642170889, ss1713365750, ss3642984410 NC_000012.10:123850700:A:G NC_000012.12:124800201:A:G (self)
59857295, 33246417, 23550921, 1505795, 163438414, 1244833, 12753096, 33246417, 7372481, ss226010099, ss236123648, ss242645048, ss342370599, ss481186772, ss482174831, ss485377397, ss491054983, ss536094521, ss563466971, ss659053019, ss778559799, ss783134268, ss784090653, ss832393205, ss834016653, ss990060808, ss1067539264, ss1078843054, ss1347031487, ss1427083104, ss1576584235, ss1584085519, ss1629652782, ss1672646815, ss1691185500, ss1711347934, ss1752052553, ss1807464050, ss1933416266, ss1967701532, ss2027463738, ss2155821484, ss2358033994, ss2628215283, ss2633021745, ss2700182237, ss2740252873, ss2748997070, ss2916307209, ss2984994913, ss3010512683, ss3023068094, ss3350294894, ss3626992972, ss3631027338, ss3633037928, ss3633739672, ss3634529354, ss3635430058, ss3636215344, ss3637181079, ss3637993239, ss3640236687, ss3646449195, ss3653765066, ss3677812673, ss3739468231, ss3744830154, ss3751086440, ss3772329316 NC_000012.11:125284747:A:G NC_000012.12:124800201:A:G (self)
94874421, ss2194009478, ss3027542322, ss3184256722, ss3649941631, ss3694671208, ss3816413679 NC_000012.12:124800201:A:G NC_000012.12:124800201:A:G (self)
ss12219262 NT_009755.15:2593844:A:G NC_000012.12:124800201:A:G (self)
ss16589558, ss20954884 NT_009755.16:2593900:A:G NC_000012.12:124800201:A:G (self)
ss1174092, ss1873427, ss2440224, ss2982402, ss3214159, ss14660126, ss24481122, ss48423134, ss65743325, ss74878548, ss76781939, ss86344031, ss86354035, ss97259682, ss103090140, ss104796586, ss105438380, ss119337708, ss132076764, ss133407879, ss158003181, ss159727594, ss160748317, ss173934351 NT_009755.19:2704124:A:G NC_000012.12:124800201:A:G (self)
ss2740252873 NC_000012.11:125284747:A:T NC_000012.12:124800201:A:T (self)
Help

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

36 citations for rs5888
PMID Title Author Year Journal
16738036 Significant linkage to chromosome 12q24.32-q24.33 and identification of SFRS8 as a possible asthma susceptibility gene. Brasch-Andersen C et al. 2006 Thorax
17476110 Variants in scavenger receptor class B type I gene are associated with HDL cholesterol levels in younger women. Roberts CG et al. 2007 Human heredity
19041386 Genetic-epidemiological evidence on genes associated with HDL cholesterol levels: a systematic in-depth review. Boes E et al. 2009 Experimental gerontology
19158204 Scavenger receptor class B type I protein as an independent predictor of high-density lipoprotein cholesterol levels in subjects with hyperalphalipoproteinemia. West M et al. 2009 The Journal of clinical endocrinology and metabolism
19806217 rs5888 variant of SCARB1 gene is a possible susceptibility factor for age-related macular degeneration. Zerbib J et al. 2009 PloS one
20060115 A synonymous variant in scavenger receptor, class B, type I gene is associated with lower SR-BI protein expression and function. Constantineau J et al. 2010 Atherosclerosis
20085651 Impact of gene variants on sex-specific regulation of human Scavenger receptor class B type 1 (SR-BI) expression in liver and association with lipid levels in a population-based study. Chiba-Falek O et al. 2010 BMC medical genetics
20160195 Association of scavenger receptor class B type I polymorphisms with subclinical atherosclerosis: the Multi-Ethnic Study of Atherosclerosis. Naj AC et al. 2010 Circulation. Cardiovascular genetics
20664795 R102G polymorphism of the C3 gene associated with exudative age-related macular degeneration in a French population. Zerbib J et al. 2010 Molecular vision
21467728 Profile of participants and genotype distributions of 108 polymorphisms in a cross-sectional study of associations of genotypes with lifestyle and clinical factors: a project in the Japan Multi-Institutional Collaborative Cohort (J-MICC) Study. Wakai K et al. 2011 Journal of epidemiology
21531995 Clinical impact of scavenger receptor class B type I gene polymorphisms on human female fertility. Yates M et al. 2011 Human reproduction (Oxford, England)
22182283 The Srb1+1050T allele is associated with metabolic syndrome in children but not with cholesteryl ester plasma concentrations of high-density lipoprotein subclasses. Juárez-Meavepeña M et al. 2012 Metabolic syndrome and related disorders
22229114 Common Variants in 6 Lipid-Related Genes Discovered by High-Resolution DNA Melting Analysis and Their Association with Plasma Lipids. Carlquist JF et al. 2011 Journal of clinical & experimental cardiology
22573014 Association of several lipid-related gene polymorphisms and blood pressure variation in the Bai Ku Yao population. Yin RX et al. 2012 American journal of hypertension
22583964 Association of rs5888 SNP in the scavenger receptor class B type 1 gene and serum lipid levels. Wu DF et al. 2012 Lipids in health and disease
22606049 Interactions of several lipid-related gene polymorphisms and cigarette smoking on blood pressure levels. Yin RX et al. 2012 International journal of biological sciences
23039238 Several genetic polymorphisms interact with overweight/obesity to influence serum lipid levels. Yin RX et al. 2012 Cardiovascular diabetology
23109900 Several lipid-related gene polymorphisms interact with overweight/obesity to modulate blood pressure levels. Yin RX et al. 2012 International journal of molecular sciences
23355348 Interactions of several single nucleotide polymorphisms and high body mass index on serum lipid traits. Yin RX et al. 2013 BioFactors (Oxford, England)
23734082 Genetic association study of mitochondrial polymorphisms in neovascular age-related macular degeneration. Tilleul J et al. 2013 Molecular vision
24346170 Genetic evidence for role of carotenoids in age-related macular degeneration in the Carotenoids in Age-Related Eye Disease Study (CAREDS). Meyers KJ et al. 2014 Investigative ophthalmology & visual science
24604378 Phosphodiesterase 3A rs7134375 single nucleotide polymorphism and serum lipid levels. Wang W et al. 2014 Molecular medicine reports
25558172 Pharmacogenetic associations with long-term response to anti-vascular endothelial growth factor treatment in neovascular AMD patients. Park UC et al. 2014 Molecular vision
26204962 Association of polymorphisms in the MAFB gene and the risk of coronary artery disease and ischemic stroke: a case-control study. Yang Q et al. 2015 Lipids in health and disease
26354227 Interactions of several genetic polymorphisms and alcohol consumption on blood pressure levels. Yin RX et al. 2015 BioFactors (Oxford, England)
26754576 The rs5888 single nucleotide polymorphism in scavenger receptor class B type 1 (SCARB1) gene and the risk of premature coronary artery disease: a case-control study. Goodarzynejad H et al. 2016 Lipids in health and disease
27070640 MADD-FOLH1 Polymorphisms and Their Haplotypes with Serum Lipid Levels and the Risk of Coronary Heart Disease and Ischemic Stroke in a Chinese Han Population. Wu DF et al. 2016 Nutrients
27428740 SCARB1 rs5888 is associated with the risk of age-related macular degeneration susceptibility and an impaired macular area. Stanislovaitiene D et al. 2017 Ophthalmic genetics
27561198 Association of SCARB1 Gene Polymorphisms with Virological Response in Chronic Hepatitis C Patients Receiving Pegylated Interferon plus Ribavirin Therapy. Hsu CS et al. 2016 Scientific reports
28315561 Polymorphisms of lipid metabolism enzyme-coding genes in patients with diabetic dyslipidemia. Tetik Vardarlı A et al. 2017 Anatolian journal of cardiology
28363797 Scavenger receptor class B member 1 (SCARB1) variants modulate hepatitis C virus replication cycle and viral load. Westhaus S et al. 2017 Journal of hepatology
28552715 Influence of SCARB1 gene SNPs on serum lipid levels and susceptibility to coronary heart disease and cerebral infarction in a Chinese population. Zeng TT et al. 2017 Gene
28577571 Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review. Paththinige CS et al. 2017 Lipids in health and disease
29113374 Meta-analysis of the association between SCARB1 polymorphism and fasting blood lipid levels. Ye LF et al. 2017 Oncotarget
29516118 Association of rs5888 SNP in SCARB1 gene with coronary artery disease : Study of a Han Chinese population. Xie L et al. 2018 Herz
30103009 SCARB1 rs5888 gene polymorphisms in coronary heart disease: A systematic review and a meta-analysis. Ma R et al. 2018 Gene

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.post246+3cda961