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

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

All alleles are reported in the Forward orientation. Click on the Variant Details tab for details on Genomic Placement, Gene, and Amino Acid changes. HGVS names are in the HGVS tab.

Reference SNP (rs) Report

This page reports data for a single dbSNP Reference SNP variation (RefSNP or rs) from the new redesigned dbSNP build.
Top of the page reports a concise summary for the rs, with more specific details included in the corresponding tabs below.
All alleles are reported in the Forward orientation. Use the Genomic View to inspect the nucleotides flanking the variant, and its neighbors.
For more information see Help documentation.

rs8044613

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr16:16194188 (GRCh38.p13) Help

The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.

Alleles
C>A
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.180830 (47864/264690, TOPMED)
A=0.171371 (24016/140140, GnomAD)
A=0.09133 (5054/55336, ALFA) (+ 13 more)
C=0.45805 (7677/16760, 8.3KJPN)
A=0.2897 (1451/5008, 1000G)
A=0.0763 (342/4480, Estonian)
A=0.0498 (192/3854, ALSPAC)
A=0.0448 (166/3708, TWINSUK)
C=0.4375 (1282/2930, KOREAN)
A=0.046 (46/998, GoNL)
A=0.108 (65/600, NorthernSweden)
C=0.368 (86/234, SGDP_PRJ)
A=0.139 (30/216, Qatari)
A=0.486 (103/212, Vietnamese)
A=0.05 (2/40, GENOME_DK)
C=0.38 (9/24, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ABCC6 : Intron Variant
Publications
0 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.p13 chr 16 NC_000016.10:g.16194188C>A
GRCh37.p13 chr 16 NC_000016.9:g.16288045C>A
ABCC6 RefSeqGene (LRG_1115) NG_007558.3:g.34430G>T
ABCC6 RefSeqGene NG_007558.2:g.34284G>T
GRCh38.p13 chr 16 alt locus HSCHR16_1_CTG1 NT_187607.1:g.1852183C>A
Gene: ABCC6, ATP binding cassette subfamily C member 6 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
ABCC6 transcript variant 1 NM_001171.6:c.1339-1266G>T N/A Intron Variant
ABCC6 transcript variant 3 NM_001351800.1:c.997-1266…

NM_001351800.1:c.997-1266G>T

N/A Intron Variant
ABCC6 transcript variant 2 NM_001079528.4:c. N/A Genic Downstream Transcript Variant
ABCC6 transcript variant 4 NR_147784.1:n. N/A Intron Variant
ABCC6 transcript variant X1 XM_011522479.2:c.1339-126…

XM_011522479.2:c.1339-1266G>T

N/A Intron Variant
ABCC6 transcript variant X4 XM_011522480.1:c.997-1266…

XM_011522480.1:c.997-1266G>T

N/A Intron Variant
ABCC6 transcript variant X5 XM_011522481.3:c.997-1266…

XM_011522481.3:c.997-1266G>T

N/A Intron Variant
ABCC6 transcript variant X9 XM_011522482.3:c.1339-126…

XM_011522482.3:c.1339-1266G>T

N/A Intron Variant
ABCC6 transcript variant X2 XM_017023212.1:c.1339-126…

XM_017023212.1:c.1339-1266G>T

N/A Intron Variant
ABCC6 transcript variant X8 XM_017023214.1:c.1339-126…

XM_017023214.1:c.1339-1266G>T

N/A Intron Variant
ABCC6 transcript variant X10 XM_024450261.1:c.1375-126…

XM_024450261.1:c.1375-1266G>T

N/A Intron Variant
ABCC6 transcript variant X3 XR_932836.2:n. N/A Intron Variant
ABCC6 transcript variant X6 XR_932837.3:n. N/A Intron Variant
ABCC6 transcript variant X7 XR_932838.3: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

ALFA Allele Frequency (New)
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 55336 C=0.90867 A=0.09133
European Sub 40624 C=0.94122 A=0.05878
African Sub 3956 C=0.6325 A=0.3675
African Others Sub 152 C=0.645 A=0.355
African American Sub 3804 C=0.6320 A=0.3680
Asian Sub 446 C=0.471 A=0.529
East Asian Sub 378 C=0.455 A=0.545
Other Asian Sub 68 C=0.56 A=0.44
Latin American 1 Sub 358 C=0.855 A=0.145
Latin American 2 Sub 5494 C=0.9086 A=0.0914
South Asian Sub 170 C=0.847 A=0.153
Other Sub 4288 C=0.9076 A=0.0924


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=0.819170 A=0.180830
gnomAD - Genomes Global Study-wide 140140 C=0.828629 A=0.171371
gnomAD - Genomes European Sub 75938 C=0.93320 A=0.06680
gnomAD - Genomes African Sub 41970 C=0.64649 A=0.35351
gnomAD - Genomes American Sub 13644 C=0.87614 A=0.12386
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=0.8832 A=0.1168
gnomAD - Genomes East Asian Sub 3114 C=0.4560 A=0.5440
gnomAD - Genomes Other Sub 2152 C=0.8448 A=0.1552
Allele Frequency Aggregator Total Global 55336 C=0.90867 A=0.09133
Allele Frequency Aggregator European Sub 40624 C=0.94122 A=0.05878
Allele Frequency Aggregator Latin American 2 Sub 5494 C=0.9086 A=0.0914
Allele Frequency Aggregator Other Sub 4288 C=0.9076 A=0.0924
Allele Frequency Aggregator African Sub 3956 C=0.6325 A=0.3675
Allele Frequency Aggregator Asian Sub 446 C=0.471 A=0.529
Allele Frequency Aggregator Latin American 1 Sub 358 C=0.855 A=0.145
Allele Frequency Aggregator South Asian Sub 170 C=0.847 A=0.153
8.3KJPN JAPANESE Study-wide 16760 C=0.45805 A=0.54195
1000Genomes Global Study-wide 5008 C=0.7103 A=0.2897
1000Genomes African Sub 1322 C=0.5885 A=0.4115
1000Genomes East Asian Sub 1008 C=0.4563 A=0.5437
1000Genomes Europe Sub 1006 C=0.9225 A=0.0775
1000Genomes South Asian Sub 978 C=0.793 A=0.207
1000Genomes American Sub 694 C=0.886 A=0.114
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.9237 A=0.0763
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.9502 A=0.0498
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.9552 A=0.0448
KOREAN population from KRGDB KOREAN Study-wide 2930 C=0.4375 A=0.5625
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.954 A=0.046
Northern Sweden ACPOP Study-wide 600 C=0.892 A=0.108
SGDP_PRJ Global Study-wide 234 C=0.368 A=0.632
Qatari Global Study-wide 216 C=0.861 A=0.139
A Vietnamese Genetic Variation Database Global Study-wide 212 C=0.514 A=0.486
The Danish reference pan genome Danish Study-wide 40 C=0.95 A=0.05
Siberian Global Study-wide 24 C=0.38 A=0.62
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
GRCh38.p13 chr 16 NC_000016.10:g.16194188= NC_000016.10:g.16194188C>A
GRCh37.p13 chr 16 NC_000016.9:g.16288045= NC_000016.9:g.16288045C>A
ABCC6 RefSeqGene (LRG_1115) NG_007558.3:g.34430= NG_007558.3:g.34430G>T
ABCC6 RefSeqGene NG_007558.2:g.34284= NG_007558.2:g.34284G>T
GRCh38.p13 chr 16 alt locus HSCHR16_1_CTG1 NT_187607.1:g.1852183= NT_187607.1:g.1852183C>A
ABCC6 transcript variant 1 NM_001171.5:c.1339-1266= NM_001171.5:c.1339-1266G>T
ABCC6 transcript variant 1 NM_001171.6:c.1339-1266= NM_001171.6:c.1339-1266G>T
ABCC6 transcript variant 3 NM_001351800.1:c.997-1266= NM_001351800.1:c.997-1266G>T
ABCC6 transcript variant X1 XM_005255310.1:c.1642-1266= XM_005255310.1:c.1642-1266G>T
ABCC6 transcript variant X2 XM_005255311.1:c.997-1266= XM_005255311.1:c.997-1266G>T
ABCC6 transcript variant X1 XM_011522479.2:c.1339-1266= XM_011522479.2:c.1339-1266G>T
ABCC6 transcript variant X4 XM_011522480.1:c.997-1266= XM_011522480.1:c.997-1266G>T
ABCC6 transcript variant X5 XM_011522481.3:c.997-1266= XM_011522481.3:c.997-1266G>T
ABCC6 transcript variant X9 XM_011522482.3:c.1339-1266= XM_011522482.3:c.1339-1266G>T
ABCC6 transcript variant X2 XM_017023212.1:c.1339-1266= XM_017023212.1:c.1339-1266G>T
ABCC6 transcript variant X8 XM_017023214.1:c.1339-1266= XM_017023214.1:c.1339-1266G>T
ABCC6 transcript variant X10 XM_024450261.1:c.1375-1266= XM_024450261.1:c.1375-1266G>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#.

69 SubSNP, 16 Frequency submissions
No Submitter Submission ID Date (Build)
1 WI_SSAHASNP ss12347913 Jul 11, 2003 (116)
2 CSHL-HAPMAP ss17561484 Feb 27, 2004 (120)
3 CSHL-HAPMAP ss20020984 Feb 27, 2004 (120)
4 ABI ss40751284 Mar 15, 2006 (126)
5 HGSV ss86187731 Dec 14, 2007 (130)
6 BGI ss103283234 Dec 01, 2009 (131)
7 1000GENOMES ss114911863 Jan 25, 2009 (130)
8 ILLUMINA-UK ss118208467 Feb 14, 2009 (130)
9 ILLUMINA ss152536335 Dec 01, 2009 (131)
10 GMI ss157153582 Dec 01, 2009 (131)
11 ILLUMINA ss159102623 Dec 01, 2009 (131)
12 ILLUMINA ss159846000 Dec 01, 2009 (131)
13 ENSEMBL ss161759702 Dec 01, 2009 (131)
14 ILLUMINA ss168870771 Jul 04, 2010 (132)
15 COMPLETE_GENOMICS ss169310324 Jul 04, 2010 (132)
16 COMPLETE_GENOMICS ss171044043 Jul 04, 2010 (132)
17 BUSHMAN ss201504437 Jul 04, 2010 (132)
18 1000GENOMES ss227171119 Jul 14, 2010 (132)
19 1000GENOMES ss236973436 Jul 15, 2010 (132)
20 1000GENOMES ss243323950 Jul 15, 2010 (132)
21 GMI ss282457685 May 04, 2012 (137)
22 PJP ss291928968 May 09, 2011 (134)
23 ILLUMINA ss479154434 Sep 08, 2015 (146)
24 ILLUMINA ss481583576 May 04, 2012 (137)
25 ILLUMINA ss483484971 May 04, 2012 (137)
26 ILLUMINA ss534323315 Sep 08, 2015 (146)
27 TISHKOFF ss564816061 Apr 25, 2013 (138)
28 SSMP ss660562206 Apr 25, 2013 (138)
29 ILLUMINA ss779888299 Sep 08, 2015 (146)
30 ILLUMINA ss781517821 Sep 08, 2015 (146)
31 ILLUMINA ss832615419 Jul 13, 2019 (153)
32 ILLUMINA ss835365894 Sep 08, 2015 (146)
33 EVA-GONL ss992338377 Aug 21, 2014 (142)
34 JMKIDD_LAB ss1080526212 Aug 21, 2014 (142)
35 1000GENOMES ss1355599136 Aug 21, 2014 (142)
36 EVA_GENOME_DK ss1577858165 Apr 01, 2015 (144)
37 EVA_UK10K_ALSPAC ss1634122266 Apr 01, 2015 (144)
38 EVA_UK10K_TWINSUK ss1677116299 Apr 01, 2015 (144)
39 EVA_DECODE ss1696373564 Apr 01, 2015 (144)
40 HAMMER_LAB ss1808446634 Sep 08, 2015 (146)
41 WEILL_CORNELL_DGM ss1935755922 Feb 12, 2016 (147)
42 JJLAB ss2028664972 Sep 14, 2016 (149)
43 USC_VALOUEV ss2157076510 Dec 20, 2016 (150)
44 HUMAN_LONGEVITY ss2211039655 Dec 20, 2016 (150)
45 TOPMED ss2375728664 Dec 20, 2016 (150)
46 SYSTEMSBIOZJU ss2628826633 Nov 08, 2017 (151)
47 ILLUMINA ss2633301257 Nov 08, 2017 (151)
48 GRF ss2701575479 Nov 08, 2017 (151)
49 GNOMAD ss2940931167 Nov 08, 2017 (151)
50 SWEGEN ss3014157270 Nov 08, 2017 (151)
51 BIOINF_KMB_FNS_UNIBA ss3028158084 Nov 08, 2017 (151)
52 TOPMED ss3241497715 Nov 08, 2017 (151)
53 CSHL ss3351363109 Nov 08, 2017 (151)
54 ILLUMINA ss3627490174 Oct 12, 2018 (152)
55 ILLUMINA ss3631288895 Oct 12, 2018 (152)
56 ILLUMINA ss3636325336 Oct 12, 2018 (152)
57 ILLUMINA ss3638116656 Oct 12, 2018 (152)
58 ILLUMINA ss3641947660 Oct 12, 2018 (152)
59 EGCUT_WGS ss3681270388 Jul 13, 2019 (153)
60 EVA_DECODE ss3698945977 Jul 13, 2019 (153)
61 ACPOP ss3741382569 Jul 13, 2019 (153)
62 EVA ss3753751827 Jul 13, 2019 (153)
63 KHV_HUMAN_GENOMES ss3819045628 Jul 13, 2019 (153)
64 EVA ss3834501669 Apr 27, 2020 (154)
65 SGDP_PRJ ss3884058556 Apr 27, 2020 (154)
66 KRGDB ss3933370326 Apr 27, 2020 (154)
67 VINODS ss4032512809 Apr 27, 2021 (155)
68 TOPMED ss5009594665 Apr 27, 2021 (155)
69 TOMMO_GENOMICS ss5218678096 Apr 27, 2021 (155)
70 1000Genomes NC_000016.9 - 16288045 Oct 12, 2018 (152)
71 The Avon Longitudinal Study of Parents and Children NC_000016.9 - 16288045 Oct 12, 2018 (152)
72 Genetic variation in the Estonian population NC_000016.9 - 16288045 Oct 12, 2018 (152)
73 The Danish reference pan genome NC_000016.9 - 16288045 Apr 27, 2020 (154)
74 gnomAD - Genomes NC_000016.10 - 16194188 Apr 27, 2021 (155)
75 Genome of the Netherlands Release 5 NC_000016.9 - 16288045 Apr 27, 2020 (154)
76 KOREAN population from KRGDB NC_000016.9 - 16288045 Apr 27, 2020 (154)
77 Northern Sweden NC_000016.9 - 16288045 Jul 13, 2019 (153)
78 Qatari NC_000016.9 - 16288045 Apr 27, 2020 (154)
79 SGDP_PRJ NC_000016.9 - 16288045 Apr 27, 2020 (154)
80 Siberian NC_000016.9 - 16288045 Apr 27, 2020 (154)
81 8.3KJPN NC_000016.9 - 16288045 Apr 27, 2021 (155)
82 TopMed NC_000016.10 - 16194188 Apr 27, 2021 (155)
83 UK 10K study - Twins NC_000016.9 - 16288045 Oct 12, 2018 (152)
84 A Vietnamese Genetic Variation Database NC_000016.9 - 16288045 Jul 13, 2019 (153)
85 ALFA NC_000016.10 - 16194188 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).

Associated ID History Updated (Build)
rs57102197 May 23, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss86187731, ss114911863, ss118208467, ss169310324, ss171044043, ss201504437, ss282457685, ss291928968, ss483484971, ss1696373564 NC_000016.8:16195545:C:A NC_000016.10:16194187:C:A (self)
68740876, 38167239, 27008636, 4072853, 17025399, 40547720, 14667434, 17797844, 36075536, 9592864, 76647403, 38167239, 8478691, ss227171119, ss236973436, ss243323950, ss479154434, ss481583576, ss534323315, ss564816061, ss660562206, ss779888299, ss781517821, ss832615419, ss835365894, ss992338377, ss1080526212, ss1355599136, ss1577858165, ss1634122266, ss1677116299, ss1808446634, ss1935755922, ss2028664972, ss2157076510, ss2375728664, ss2628826633, ss2633301257, ss2701575479, ss2940931167, ss3014157270, ss3351363109, ss3627490174, ss3631288895, ss3636325336, ss3638116656, ss3641947660, ss3681270388, ss3741382569, ss3753751827, ss3834501669, ss3884058556, ss3933370326, ss5218678096 NC_000016.9:16288044:C:A NC_000016.10:16194187:C:A (self)
484399261, 140710896, 225140326, 810705102, ss2211039655, ss3028158084, ss3241497715, ss3698945977, ss3819045628, ss5009594665 NC_000016.10:16194187:C:A NC_000016.10:16194187:C:A (self)
ss12347913 NT_010393.13:7561058:C:A NC_000016.10:16194187:C:A (self)
ss17561484, ss20020984 NT_010393.14:7600178:C:A NC_000016.10:16194187:C:A (self)
ss40751284, ss103283234, ss152536335, ss157153582, ss159102623, ss159846000, ss161759702, ss168870771 NT_010393.16:16228044:C:A NC_000016.10:16194187:C:A (self)
ss4032512809 NT_187607.1:1852182:C:A NC_000016.10:16194187:C:A
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 rs8044613

Help

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

Genome context:
Select flank length:

Genomic regions, transcripts, and products
Top Help

NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

Software version is: 2.0.1.post596+ae089ad