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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

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

Reference SNP (rs) Report

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

rs6498618

Current Build 155

Released April 9, 2021

Organism
Homo sapiens
Position
chr16:16192757 (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
G>A / G>C / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
G=0.284132 (75207/264690, TOPMED)
G=0.285438 (39939/139922, GnomAD)
G=0.29345 (5241/17860, ALFA) (+ 14 more)
G=0.23061 (3865/16760, 8.3KJPN)
G=0.3023 (1514/5008, 1000G)
G=0.3025 (1355/4480, Estonian)
G=0.2878 (1109/3854, ALSPAC)
G=0.3109 (1153/3708, TWINSUK)
G=0.2421 (709/2928, KOREAN)
G=0.255 (254/998, GoNL)
G=0.290 (174/600, NorthernSweden)
G=0.493 (263/534, MGP)
G=0.234 (116/496, SGDP_PRJ)
G=0.394 (85/216, Qatari)
G=0.332 (69/208, Vietnamese)
G=0.29 (15/52, Siberian)
G=0.20 (8/40, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
ABCC6 : Intron Variant
Publications
1 citation
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.16192757G>A
GRCh38.p13 chr 16 NC_000016.10:g.16192757G>C
GRCh38.p13 chr 16 NC_000016.10:g.16192757G>T
GRCh37.p13 chr 16 NC_000016.9:g.16286614G>A
GRCh37.p13 chr 16 NC_000016.9:g.16286614G>C
GRCh37.p13 chr 16 NC_000016.9:g.16286614G>T
ABCC6 RefSeqGene (LRG_1115) NG_007558.3:g.35861C>T
ABCC6 RefSeqGene (LRG_1115) NG_007558.3:g.35861C>G
ABCC6 RefSeqGene (LRG_1115) NG_007558.3:g.35861C>A
ABCC6 RefSeqGene NG_007558.2:g.35715C>T
ABCC6 RefSeqGene NG_007558.2:g.35715C>G
ABCC6 RefSeqGene NG_007558.2:g.35715C>A
GRCh38.p13 chr 16 alt locus HSCHR16_1_CTG1 NT_187607.1:g.1850752C>G
GRCh38.p13 chr 16 alt locus HSCHR16_1_CTG1 NT_187607.1:g.1850752C>A
GRCh38.p13 chr 16 alt locus HSCHR16_1_CTG1 NT_187607.1:g.1850752C>T
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.1431+73C>T N/A Intron Variant
ABCC6 transcript variant 3 NM_001351800.1:c.1089+73C…

NM_001351800.1:c.1089+73C>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.1431+73C…

XM_011522479.2:c.1431+73C>T

N/A Intron Variant
ABCC6 transcript variant X4 XM_011522480.1:c.1089+73C…

XM_011522480.1:c.1089+73C>T

N/A Intron Variant
ABCC6 transcript variant X5 XM_011522481.3:c.1089+73C…

XM_011522481.3:c.1089+73C>T

N/A Intron Variant
ABCC6 transcript variant X9 XM_011522482.3:c.1431+73C…

XM_011522482.3:c.1431+73C>T

N/A Intron Variant
ABCC6 transcript variant X2 XM_017023212.1:c.1431+73C…

XM_017023212.1:c.1431+73C>T

N/A Intron Variant
ABCC6 transcript variant X8 XM_017023214.1:c.1431+73C…

XM_017023214.1:c.1431+73C>T

N/A Intron Variant
ABCC6 transcript variant X10 XM_024450261.1:c.1467+73C…

XM_024450261.1:c.1467+73C>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
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 17860 G=0.29345 A=0.00000, C=0.70655
European Sub 13728 G=0.29560 A=0.00000, C=0.70440
African Sub 2468 G=0.2703 A=0.0000, C=0.7297
African Others Sub 92 G=0.27 A=0.00, C=0.73
African American Sub 2376 G=0.2702 A=0.0000, C=0.7298
Asian Sub 112 G=0.259 A=0.000, C=0.741
East Asian Sub 86 G=0.24 A=0.00, C=0.76
Other Asian Sub 26 G=0.31 A=0.00, C=0.69
Latin American 1 Sub 146 G=0.336 A=0.000, C=0.664
Latin American 2 Sub 610 G=0.348 A=0.000, C=0.652
South Asian Sub 98 G=0.43 A=0.00, C=0.57
Other Sub 698 G=0.264 A=0.000, C=0.736


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=0.284132 C=0.715868
gnomAD - Genomes Global Study-wide 139922 G=0.285438 C=0.714562
gnomAD - Genomes European Sub 75830 G=0.28468 C=0.71532
gnomAD - Genomes African Sub 41882 G=0.28315 C=0.71685
gnomAD - Genomes American Sub 13628 G=0.30437 C=0.69563
gnomAD - Genomes Ashkenazi Jewish Sub 3318 G=0.2740 C=0.7260
gnomAD - Genomes East Asian Sub 3118 G=0.2672 C=0.7328
gnomAD - Genomes Other Sub 2146 G=0.2810 C=0.7190
8.3KJPN JAPANESE Study-wide 16760 G=0.23061 C=0.76939
1000Genomes Global Study-wide 5008 G=0.3023 C=0.6977
1000Genomes African Sub 1322 G=0.2799 C=0.7201
1000Genomes East Asian Sub 1008 G=0.2589 C=0.7411
1000Genomes Europe Sub 1006 G=0.2763 C=0.7237
1000Genomes South Asian Sub 978 G=0.396 C=0.604
1000Genomes American Sub 694 G=0.314 C=0.686
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.3025 C=0.6975
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.2878 C=0.7122
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.3109 C=0.6891
KOREAN population from KRGDB KOREAN Study-wide 2928 G=0.2421 A=0.0000, C=0.7579, T=0.0000
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.255 C=0.745
Northern Sweden ACPOP Study-wide 600 G=0.290 C=0.710
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.493 C=0.507
SGDP_PRJ Global Study-wide 496 G=0.234 C=0.766
Qatari Global Study-wide 216 G=0.394 C=0.606
A Vietnamese Genetic Variation Database Global Study-wide 208 G=0.332 C=0.668
Siberian Global Study-wide 52 G=0.29 C=0.71
The Danish reference pan genome Danish Study-wide 40 G=0.20 C=0.80
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 C T
GRCh38.p13 chr 16 NC_000016.10:g.16192757= NC_000016.10:g.16192757G>A NC_000016.10:g.16192757G>C NC_000016.10:g.16192757G>T
GRCh37.p13 chr 16 NC_000016.9:g.16286614= NC_000016.9:g.16286614G>A NC_000016.9:g.16286614G>C NC_000016.9:g.16286614G>T
ABCC6 RefSeqGene (LRG_1115) NG_007558.3:g.35861= NG_007558.3:g.35861C>T NG_007558.3:g.35861C>G NG_007558.3:g.35861C>A
ABCC6 RefSeqGene NG_007558.2:g.35715= NG_007558.2:g.35715C>T NG_007558.2:g.35715C>G NG_007558.2:g.35715C>A
GRCh38.p13 chr 16 alt locus HSCHR16_1_CTG1 NT_187607.1:g.1850752C>G NT_187607.1:g.1850752C>A NT_187607.1:g.1850752= NT_187607.1:g.1850752C>T
ABCC6 transcript variant 1 NM_001171.5:c.1431+73= NM_001171.5:c.1431+73C>T NM_001171.5:c.1431+73C>G NM_001171.5:c.1431+73C>A
ABCC6 transcript variant 1 NM_001171.6:c.1431+73= NM_001171.6:c.1431+73C>T NM_001171.6:c.1431+73C>G NM_001171.6:c.1431+73C>A
ABCC6 transcript variant 3 NM_001351800.1:c.1089+73= NM_001351800.1:c.1089+73C>T NM_001351800.1:c.1089+73C>G NM_001351800.1:c.1089+73C>A
ABCC6 transcript variant X1 XM_005255310.1:c.1734+73= XM_005255310.1:c.1734+73C>T XM_005255310.1:c.1734+73C>G XM_005255310.1:c.1734+73C>A
ABCC6 transcript variant X2 XM_005255311.1:c.1089+73= XM_005255311.1:c.1089+73C>T XM_005255311.1:c.1089+73C>G XM_005255311.1:c.1089+73C>A
ABCC6 transcript variant X1 XM_011522479.2:c.1431+73= XM_011522479.2:c.1431+73C>T XM_011522479.2:c.1431+73C>G XM_011522479.2:c.1431+73C>A
ABCC6 transcript variant X4 XM_011522480.1:c.1089+73= XM_011522480.1:c.1089+73C>T XM_011522480.1:c.1089+73C>G XM_011522480.1:c.1089+73C>A
ABCC6 transcript variant X5 XM_011522481.3:c.1089+73= XM_011522481.3:c.1089+73C>T XM_011522481.3:c.1089+73C>G XM_011522481.3:c.1089+73C>A
ABCC6 transcript variant X9 XM_011522482.3:c.1431+73= XM_011522482.3:c.1431+73C>T XM_011522482.3:c.1431+73C>G XM_011522482.3:c.1431+73C>A
ABCC6 transcript variant X2 XM_017023212.1:c.1431+73= XM_017023212.1:c.1431+73C>T XM_017023212.1:c.1431+73C>G XM_017023212.1:c.1431+73C>A
ABCC6 transcript variant X8 XM_017023214.1:c.1431+73= XM_017023214.1:c.1431+73C>T XM_017023214.1:c.1431+73C>G XM_017023214.1:c.1431+73C>A
ABCC6 transcript variant X10 XM_024450261.1:c.1467+73= XM_024450261.1:c.1467+73C>T XM_024450261.1:c.1467+73C>G XM_024450261.1:c.1467+73C>A
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#.

89 SubSNP, 17 Frequency submissions
No Submitter Submission ID Date (Build)
1 BCM_SSAHASNP ss10845048 Jul 11, 2003 (116)
2 WI_SSAHASNP ss11188554 Jul 11, 2003 (116)
3 CSHL-HAPMAP ss16714975 Feb 27, 2004 (120)
4 CSHL-HAPMAP ss17565255 Feb 27, 2004 (120)
5 SSAHASNP ss21310555 Apr 05, 2004 (121)
6 HGSV ss78698796 Dec 07, 2007 (129)
7 HGSV ss81821026 Dec 16, 2007 (130)
8 HGSV ss82248239 Dec 16, 2007 (130)
9 HGSV ss84600137 Dec 16, 2007 (130)
10 HGSV ss84695632 Dec 16, 2007 (130)
11 BCMHGSC_JDW ss90334564 Mar 24, 2008 (129)
12 HUMANGENOME_JCVI ss96628374 Feb 06, 2009 (130)
13 BGI ss103283232 Dec 01, 2009 (131)
14 ABCC6-LOVD ss107794988 Feb 06, 2009 (130)
15 1000GENOMES ss109235251 Jan 23, 2009 (130)
16 1000GENOMES ss114911835 Jan 25, 2009 (130)
17 ILLUMINA-UK ss118208465 Feb 14, 2009 (130)
18 ENSEMBL ss136786349 Dec 01, 2009 (131)
19 ILLUMINA ss152536319 Dec 01, 2009 (131)
20 GMI ss157153558 Dec 01, 2009 (131)
21 ILLUMINA ss159100353 Dec 01, 2009 (131)
22 ILLUMINA ss159102620 Dec 01, 2009 (131)
23 ILLUMINA ss159845998 Dec 01, 2009 (131)
24 COMPLETE_GENOMICS ss167948426 Jul 04, 2010 (132)
25 ILLUMINA ss168870724 Jul 04, 2010 (132)
26 COMPLETE_GENOMICS ss169310260 Jul 04, 2010 (132)
27 COMPLETE_GENOMICS ss171044020 Jul 04, 2010 (132)
28 BUSHMAN ss201504427 Jul 04, 2010 (132)
29 BCM-HGSC-SUB ss207641652 Jul 04, 2010 (132)
30 1000GENOMES ss227171116 Jul 14, 2010 (132)
31 1000GENOMES ss236973435 Jul 15, 2010 (132)
32 1000GENOMES ss243323948 Jul 15, 2010 (132)
33 BL ss255552649 May 09, 2011 (134)
34 GMI ss282457681 May 04, 2012 (137)
35 GMI ss287043667 Apr 25, 2013 (138)
36 PJP ss291928965 May 09, 2011 (134)
37 ILLUMINA ss479154426 Sep 08, 2015 (146)
38 ILLUMINA ss532727811 Sep 08, 2015 (146)
39 TISHKOFF ss564816052 Apr 25, 2013 (138)
40 SSMP ss660562198 Apr 25, 2013 (138)
41 ILLUMINA ss832615416 Jul 13, 2019 (153)
42 EVA-GONL ss992338358 Aug 21, 2014 (142)
43 JMKIDD_LAB ss1080526203 Aug 21, 2014 (142)
44 1000GENOMES ss1355599072 Aug 21, 2014 (142)
45 DDI ss1427794697 Apr 01, 2015 (144)
46 EVA_GENOME_DK ss1577858161 Apr 01, 2015 (144)
47 EVA_UK10K_ALSPAC ss1634122232 Apr 01, 2015 (144)
48 EVA_UK10K_TWINSUK ss1677116265 Apr 01, 2015 (144)
49 EVA_DECODE ss1696373548 Apr 01, 2015 (144)
50 EVA_MGP ss1711420781 Apr 01, 2015 (144)
51 HAMMER_LAB ss1808446629 Sep 08, 2015 (146)
52 WEILL_CORNELL_DGM ss1935755906 Feb 12, 2016 (147)
53 GENOMED ss1968232425 Jul 19, 2016 (147)
54 JJLAB ss2028664962 Sep 14, 2016 (149)
55 USC_VALOUEV ss2157076504 Dec 20, 2016 (150)
56 HUMAN_LONGEVITY ss2211039544 Dec 20, 2016 (150)
57 TOPMED ss2375728559 Dec 20, 2016 (150)
58 SYSTEMSBIOZJU ss2628826630 Nov 08, 2017 (151)
59 GRF ss2701575473 Nov 08, 2017 (151)
60 SWEGEN ss3014157254 Nov 08, 2017 (151)
61 BIOINF_KMB_FNS_UNIBA ss3028158080 Nov 08, 2017 (151)
62 TOPMED ss3241497403 Nov 08, 2017 (151)
63 TOPMED ss3241497404 Nov 08, 2017 (151)
64 CSHL ss3351363101 Nov 08, 2017 (151)
65 ILLUMINA ss3627490169 Oct 12, 2018 (152)
66 ILLUMINA ss3636325335 Oct 12, 2018 (152)
67 ILLUMINA ss3638116655 Oct 12, 2018 (152)
68 OMUKHERJEE_ADBS ss3646487414 Oct 12, 2018 (152)
69 URBANLAB ss3650476112 Oct 12, 2018 (152)
70 EGCUT_WGS ss3681270366 Jul 13, 2019 (153)
71 EVA_DECODE ss3698945953 Jul 13, 2019 (153)
72 ACPOP ss3741382560 Jul 13, 2019 (153)
73 EVA ss3753751811 Jul 13, 2019 (153)
74 PACBIO ss3787995690 Jul 13, 2019 (153)
75 PACBIO ss3792986763 Jul 13, 2019 (153)
76 PACBIO ss3797871731 Jul 13, 2019 (153)
77 KHV_HUMAN_GENOMES ss3819045613 Jul 13, 2019 (153)
78 EVA ss3825874947 Apr 27, 2020 (154)
79 EVA ss3834501662 Apr 27, 2020 (154)
80 EVA ss3840856361 Apr 27, 2020 (154)
81 EVA ss3846347741 Apr 27, 2020 (154)
82 SGDP_PRJ ss3884058530 Apr 27, 2020 (154)
83 KRGDB ss3933370299 Apr 27, 2020 (154)
84 FSA-LAB ss3984088983 Apr 27, 2021 (155)
85 EVA ss3986677904 Apr 27, 2021 (155)
86 VINODS ss4032512803 Apr 27, 2021 (155)
87 TOPMED ss5009594231 Apr 27, 2021 (155)
88 TOMMO_GENOMICS ss5218678050 Apr 27, 2021 (155)
89 EVA ss5237233403 Apr 27, 2021 (155)
90 1000Genomes NC_000016.9 - 16286614 Oct 12, 2018 (152)
91 The Avon Longitudinal Study of Parents and Children NC_000016.9 - 16286614 Oct 12, 2018 (152)
92 Genetic variation in the Estonian population NC_000016.9 - 16286614 Oct 12, 2018 (152)
93 The Danish reference pan genome NC_000016.9 - 16286614 Apr 27, 2020 (154)
94 gnomAD - Genomes NC_000016.10 - 16192757 Apr 27, 2021 (155)
95 Genome of the Netherlands Release 5 NC_000016.9 - 16286614 Apr 27, 2020 (154)
96 KOREAN population from KRGDB NC_000016.9 - 16286614 Apr 27, 2020 (154)
97 Medical Genome Project healthy controls from Spanish population NC_000016.9 - 16286614 Apr 27, 2020 (154)
98 Northern Sweden NC_000016.9 - 16286614 Jul 13, 2019 (153)
99 Qatari NC_000016.9 - 16286614 Apr 27, 2020 (154)
100 SGDP_PRJ NC_000016.9 - 16286614 Apr 27, 2020 (154)
101 Siberian NC_000016.9 - 16286614 Apr 27, 2020 (154)
102 8.3KJPN NC_000016.9 - 16286614 Apr 27, 2021 (155)
103 TopMed NC_000016.10 - 16192757 Apr 27, 2021 (155)
104 UK 10K study - Twins NC_000016.9 - 16286614 Oct 12, 2018 (152)
105 A Vietnamese Genetic Variation Database NC_000016.9 - 16286614 Jul 13, 2019 (153)
106 ALFA NC_000016.10 - 16192757 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)
rs61258086 May 26, 2008 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
40547693, ss3933370299 NC_000016.9:16286613:G:A NC_000016.10:16192756:G:A (self)
9077177775, ss3241497403 NC_000016.10:16192756:G:A NC_000016.10:16192756:G:A (self)
ss78698796, ss81821026, ss82248239, ss84600137, ss84695632, ss90334564, ss109235251, ss114911835, ss118208465, ss167948426, ss169310260, ss171044020, ss201504427, ss207641652, ss255552649, ss282457681, ss287043667, ss291928965, ss1696373548 NC_000016.8:16194114:G:C NC_000016.10:16192756:G:C (self)
68740812, 38167204, 27008614, 4072849, 17025380, 40547693, 536541, 14667425, 17797828, 36075510, 9592858, 76647357, 38167204, 8478685, ss227171116, ss236973435, ss243323948, ss479154426, ss532727811, ss564816052, ss660562198, ss832615416, ss992338358, ss1080526203, ss1355599072, ss1427794697, ss1577858161, ss1634122232, ss1677116265, ss1711420781, ss1808446629, ss1935755906, ss1968232425, ss2028664962, ss2157076504, ss2375728559, ss2628826630, ss2701575473, ss3014157254, ss3351363101, ss3627490169, ss3636325335, ss3638116655, ss3646487414, ss3681270366, ss3741382560, ss3753751811, ss3787995690, ss3792986763, ss3797871731, ss3825874947, ss3834501662, ss3840856361, ss3884058530, ss3933370299, ss3984088983, ss3986677904, ss5218678050 NC_000016.9:16286613:G:C NC_000016.10:16192756:G:C (self)
484398943, 140710623, 225139892, 9077177775, ss2211039544, ss3028158080, ss3241497404, ss3650476112, ss3698945953, ss3819045613, ss3846347741, ss5009594231, ss5237233403 NC_000016.10:16192756:G:C NC_000016.10:16192756:G:C (self)
ss10845048, ss11188554 NT_010393.13:7559627:G:C NC_000016.10:16192756:G:C (self)
ss16714975, ss17565255, ss21310555 NT_010393.14:7598747:G:C NC_000016.10:16192756:G:C (self)
ss96628374, ss103283232, ss107794988, ss136786349, ss152536319, ss157153558, ss159100353, ss159102620, ss159845998, ss168870724 NT_010393.16:16226613:G:C NC_000016.10:16192756:G:C (self)
ss4032512803 NT_187607.1:1850751:C:C NC_000016.10:16192756:G:C
40547693, ss3933370299 NC_000016.9:16286613:G:T NC_000016.10:16192756:G:T (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 rs6498618
PMID Title Author Year Journal
12384774 Evidence for a founder effect for pseudoxanthoma elasticum in the Afrikaner population of South Africa. Le Saux O et al. 2002 Human genetics
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