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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.

rs6063

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr4:154609725 (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
C>T
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.003646 (965/264690, TOPMED)
T=0.002810 (706/251212, GnomAD_exome)
T=0.005155 (1047/203110, ALFA) (+ 14 more)
T=0.003389 (475/140150, GnomAD)
T=0.002705 (328/121258, ExAC)
T=0.00254 (200/78702, PAGE_STUDY)
T=0.0030 (19/6404, 1000G_30x)
T=0.0028 (14/5008, 1000G)
T=0.0018 (8/4480, Estonian)
T=0.0067 (26/3854, ALSPAC)
T=0.0038 (14/3708, TWINSUK)
T=0.0018 (2/1136, Daghestan)
T=0.006 (6/998, GoNL)
T=0.008 (8/962, HapMap)
T=0.005 (3/600, NorthernSweden)
T=0.004 (2/534, MGP)
T=0.04 (2/50, Ancient Sardinia)
Clinical Significance
Reported in ClinVar
Gene : Consequence
FGG : Missense Variant
Publications
3 citations
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: 20231103111315
Population Group Sample Size Ref Allele Alt Allele Ref HMOZ Alt HMOZ HTRZ HWEP
Total Global 219576 C=0.994881 T=0.005119 0.989799 3.6e-05 0.010165 0
European Sub 182658 C=0.994388 T=0.005612 0.988821 0.000044 0.011136 0
African Sub 10930 C=0.99936 T=0.00064 0.998719 0.0 0.001281 0
African Others Sub 390 C=1.000 T=0.000 1.0 0.0 0.0 N/A
African American Sub 10540 C=0.99934 T=0.00066 0.998672 0.0 0.001328 0
Asian Sub 6354 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
East Asian Sub 4504 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
Other Asian Sub 1850 C=1.0000 T=0.0000 1.0 0.0 0.0 N/A
Latin American 1 Sub 804 C=0.993 T=0.007 0.985075 0.0 0.014925 0
Latin American 2 Sub 974 C=0.994 T=0.006 0.98768 0.0 0.01232 0
South Asian Sub 280 C=0.996 T=0.004 0.992857 0.0 0.007143 0
Other Sub 17576 C=0.99551 T=0.00449 0.99101 0.0 0.00899 0


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=0.996354 T=0.003646
gnomAD - Exomes Global Study-wide 251212 C=0.997190 T=0.002810
gnomAD - Exomes European Sub 135220 C=0.995977 T=0.004023
gnomAD - Exomes Asian Sub 49000 C=0.99992 T=0.00008
gnomAD - Exomes American Sub 34542 C=0.99766 T=0.00234
gnomAD - Exomes African Sub 16252 C=0.99895 T=0.00105
gnomAD - Exomes Ashkenazi Jewish Sub 10070 C=0.99633 T=0.00367
gnomAD - Exomes Other Sub 6128 C=0.9962 T=0.0038
Allele Frequency Aggregator Total Global 203110 C=0.994845 T=0.005155
Allele Frequency Aggregator European Sub 172478 C=0.994434 T=0.005566
Allele Frequency Aggregator Other Sub 16128 C=0.99554 T=0.00446
Allele Frequency Aggregator Asian Sub 6354 C=1.0000 T=0.0000
Allele Frequency Aggregator African Sub 6092 C=0.9997 T=0.0003
Allele Frequency Aggregator Latin American 2 Sub 974 C=0.994 T=0.006
Allele Frequency Aggregator Latin American 1 Sub 804 C=0.993 T=0.007
Allele Frequency Aggregator South Asian Sub 280 C=0.996 T=0.004
gnomAD - Genomes Global Study-wide 140150 C=0.996611 T=0.003389
gnomAD - Genomes European Sub 75896 C=0.99538 T=0.00462
gnomAD - Genomes African Sub 42016 C=0.99900 T=0.00100
gnomAD - Genomes American Sub 13638 C=0.99589 T=0.00411
gnomAD - Genomes Ashkenazi Jewish Sub 3322 C=0.9943 T=0.0057
gnomAD - Genomes East Asian Sub 3126 C=1.0000 T=0.0000
gnomAD - Genomes Other Sub 2152 C=0.9967 T=0.0033
ExAC Global Study-wide 121258 C=0.997295 T=0.002705
ExAC Europe Sub 73286 C=0.99604 T=0.00396
ExAC Asian Sub 25156 C=0.99984 T=0.00016
ExAC American Sub 11510 C=0.99800 T=0.00200
ExAC African Sub 10398 C=0.99904 T=0.00096
ExAC Other Sub 908 C=0.999 T=0.001
The PAGE Study Global Study-wide 78702 C=0.99746 T=0.00254
The PAGE Study AfricanAmerican Sub 32516 C=0.99911 T=0.00089
The PAGE Study Mexican Sub 10810 C=0.99695 T=0.00305
The PAGE Study Asian Sub 8318 C=1.0000 T=0.0000
The PAGE Study PuertoRican Sub 7918 C=0.9922 T=0.0078
The PAGE Study NativeHawaiian Sub 4534 C=0.9980 T=0.0020
The PAGE Study Cuban Sub 4230 C=0.9948 T=0.0052
The PAGE Study Dominican Sub 3828 C=0.9932 T=0.0068
The PAGE Study CentralAmerican Sub 2450 C=0.9980 T=0.0020
The PAGE Study SouthAmerican Sub 1982 C=0.9960 T=0.0040
The PAGE Study NativeAmerican Sub 1260 C=0.9952 T=0.0048
The PAGE Study SouthAsian Sub 856 C=1.000 T=0.000
1000Genomes_30x Global Study-wide 6404 C=0.9970 T=0.0030
1000Genomes_30x African Sub 1786 C=1.0000 T=0.0000
1000Genomes_30x Europe Sub 1266 C=0.9921 T=0.0079
1000Genomes_30x South Asian Sub 1202 C=1.0000 T=0.0000
1000Genomes_30x East Asian Sub 1170 C=1.0000 T=0.0000
1000Genomes_30x American Sub 980 C=0.991 T=0.009
1000Genomes Global Study-wide 5008 C=0.9972 T=0.0028
1000Genomes African Sub 1322 C=1.0000 T=0.0000
1000Genomes East Asian Sub 1008 C=1.0000 T=0.0000
1000Genomes Europe Sub 1006 C=0.9920 T=0.0080
1000Genomes South Asian Sub 978 C=1.000 T=0.000
1000Genomes American Sub 694 C=0.991 T=0.009
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.9982 T=0.0018
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.9933 T=0.0067
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.9962 T=0.0038
Genome-wide autozygosity in Daghestan Global Study-wide 1136 C=0.9982 T=0.0018
Genome-wide autozygosity in Daghestan Daghestan Sub 628 C=0.998 T=0.002
Genome-wide autozygosity in Daghestan Near_East Sub 144 C=0.993 T=0.007
Genome-wide autozygosity in Daghestan Central Asia Sub 122 C=1.000 T=0.000
Genome-wide autozygosity in Daghestan Europe Sub 108 C=1.000 T=0.000
Genome-wide autozygosity in Daghestan South Asian Sub 98 C=1.00 T=0.00
Genome-wide autozygosity in Daghestan Caucasus Sub 36 C=1.00 T=0.00
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.994 T=0.006
HapMap Global Study-wide 962 C=0.992 T=0.008
HapMap American Sub 318 C=0.994 T=0.006
HapMap African Sub 298 C=0.997 T=0.003
HapMap Europe Sub 174 C=0.977 T=0.023
HapMap Asian Sub 172 C=0.994 T=0.006
Northern Sweden ACPOP Study-wide 600 C=0.995 T=0.005
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 C=0.996 T=0.004
Ancient Sardinia genome-wide 1240k capture data generation and analysis Global Study-wide 50 C=0.96 T=0.04
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 4 NC_000004.12:g.154609725C>T
GRCh37.p13 chr 4 NC_000004.11:g.155530877C>T
FGG RefSeqGene (LRG_585) NG_008834.1:g.8026G>A
Gene: FGG, fibrinogen gamma chain (minus strand)
Molecule type Change Amino acid[Codon] SO Term
FGG transcript variant gamma-B NM_021870.3:c.571G>A G [GGG] > R [AGG] Coding Sequence Variant
fibrinogen gamma chain isoform gamma-B precursor NP_068656.2:p.Gly191Arg G (Gly) > R (Arg) Missense Variant
FGG transcript variant gamma NM_000509.6:c.571G>A G [GGG] > R [AGG] Coding Sequence Variant
fibrinogen gamma chain isoform gamma-A precursor NP_000500.2:p.Gly191Arg G (Gly) > R (Arg) Missense 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: T (allele ID: 31417 )
ClinVar Accession Disease Names Clinical Significance
RCV000017800.4 Fibrinogen Milano XII, digenic Pathogenic
RCV000791084.3 not specified Uncertain-Significance
RCV000851827.1 Hypofibrinogenemia Uncertain-Significance
RCV000963143.3 not provided Likely-Benign
RCV001144043.2 Congenital afibrinogenemia Benign
RCV002222000.1 Familial dysfibrinogenemia Uncertain-Significance
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= T
GRCh38.p14 chr 4 NC_000004.12:g.154609725= NC_000004.12:g.154609725C>T
GRCh37.p13 chr 4 NC_000004.11:g.155530877= NC_000004.11:g.155530877C>T
FGG RefSeqGene (LRG_585) NG_008834.1:g.8026= NG_008834.1:g.8026G>A
FGG transcript variant gamma NM_000509.6:c.571= NM_000509.6:c.571G>A
FGG transcript variant gamma NM_000509.5:c.571= NM_000509.5:c.571G>A
FGG transcript variant gamma-A NM_000509.4:c.571= NM_000509.4:c.571G>A
FGG transcript variant gamma-B NM_021870.3:c.571= NM_021870.3:c.571G>A
FGG transcript variant gamma-B NM_021870.2:c.571= NM_021870.2:c.571G>A
fibrinogen gamma chain isoform gamma-A precursor NP_000500.2:p.Gly191= NP_000500.2:p.Gly191Arg
fibrinogen gamma chain isoform gamma-B precursor NP_068656.2:p.Gly191= NP_068656.2:p.Gly191Arg
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#.

75 SubSNP, 17 Frequency, 6 ClinVar submissions
No Submitter Submission ID Date (Build)
1 WIAF-CSNP ss7680 Sep 19, 2000 (52)
2 PGA-UW-FHCRC ss2978553 Apr 12, 2001 (104)
3 AFFY ss74813642 Aug 16, 2007 (128)
4 ILLUMINA ss74870627 Dec 06, 2007 (129)
5 ILLUMINA ss173972968 Jul 04, 2010 (132)
6 OMICIA ss244238367 Aug 29, 2012 (137)
7 ILLUMINA ss244304303 Jul 04, 2010 (132)
8 OMIM-CURATED-RECORDS ss275514559 Nov 22, 2010 (133)
9 1000GENOMES ss332059395 May 09, 2011 (134)
10 NHLBI-ESP ss342173634 May 09, 2011 (134)
11 1000GENOMES ss490896363 May 04, 2012 (137)
12 EXOME_CHIP ss491361848 May 04, 2012 (137)
13 CLINSEQ_SNP ss491861211 May 04, 2012 (137)
14 ILLUMINA ss534696384 Sep 08, 2015 (146)
15 ILLUMINA ss537335143 Sep 08, 2015 (146)
16 ILLUMINA ss780833495 Sep 08, 2015 (146)
17 ILLUMINA ss783516502 Sep 08, 2015 (146)
18 EVA-GONL ss980859249 Aug 21, 2014 (142)
19 1000GENOMES ss1312502963 Aug 21, 2014 (142)
20 HAMMER_LAB ss1397393440 Sep 08, 2015 (146)
21 EVA_DECODE ss1590373140 Apr 01, 2015 (144)
22 EVA_UK10K_ALSPAC ss1611535438 Apr 01, 2015 (144)
23 EVA_UK10K_TWINSUK ss1654529471 Apr 01, 2015 (144)
24 EVA_EXAC ss1687672210 Apr 01, 2015 (144)
25 EVA_MGP ss1711074325 Apr 01, 2015 (144)
26 ILLUMINA ss1752504129 Sep 08, 2015 (146)
27 ILLUMINA ss1917785774 Feb 12, 2016 (147)
28 ILLUMINA ss1946130668 Feb 12, 2016 (147)
29 ILLUMINA ss1958732028 Feb 12, 2016 (147)
30 JJLAB ss2022635486 Sep 14, 2016 (149)
31 HUMAN_LONGEVITY ss2268558796 Dec 20, 2016 (150)
32 GNOMAD ss2734789497 Nov 08, 2017 (151)
33 GNOMAD ss2747318921 Nov 08, 2017 (151)
34 GNOMAD ss2817238242 Nov 08, 2017 (151)
35 AFFY ss2985307013 Nov 08, 2017 (151)
36 SWEGEN ss2995832764 Nov 08, 2017 (151)
37 ILLUMINA ss3022428705 Nov 08, 2017 (151)
38 ILLUMINA ss3629099092 Oct 12, 2018 (152)
39 ILLUMINA ss3629099093 Oct 12, 2018 (152)
40 ILLUMINA ss3629099094 Oct 12, 2018 (152)
41 ILLUMINA ss3634976553 Oct 12, 2018 (152)
42 ILLUMINA ss3638520123 Oct 12, 2018 (152)
43 ILLUMINA ss3640683846 Oct 12, 2018 (152)
44 ILLUMINA ss3643468848 Oct 12, 2018 (152)
45 ILLUMINA ss3644863506 Oct 12, 2018 (152)
46 ILLUMINA ss3652919354 Oct 12, 2018 (152)
47 ILLUMINA ss3654079087 Oct 12, 2018 (152)
48 EGCUT_WGS ss3663743271 Jul 13, 2019 (153)
49 EVA_DECODE ss3713393843 Jul 13, 2019 (153)
50 ILLUMINA ss3726182986 Jul 13, 2019 (153)
51 ACPOP ss3731755861 Jul 13, 2019 (153)
52 ILLUMINA ss3744530996 Jul 13, 2019 (153)
53 ILLUMINA ss3745276778 Jul 13, 2019 (153)
54 PAGE_CC ss3771162888 Jul 13, 2019 (153)
55 ILLUMINA ss3772771212 Jul 13, 2019 (153)
56 EVA ss3824053461 Apr 26, 2020 (154)
57 EVA ss3825665939 Apr 26, 2020 (154)
58 EVA ss3985104354 Apr 26, 2021 (155)
59 EVA ss3986294751 Apr 26, 2021 (155)
60 EVA ss4017176199 Apr 26, 2021 (155)
61 TOPMED ss4638043189 Apr 26, 2021 (155)
62 EVA ss5237642909 Oct 13, 2022 (156)
63 1000G_HIGH_COVERAGE ss5261622125 Oct 13, 2022 (156)
64 EVA ss5353397380 Oct 13, 2022 (156)
65 HUGCELL_USP ss5460113001 Oct 13, 2022 (156)
66 1000G_HIGH_COVERAGE ss5544037725 Oct 13, 2022 (156)
67 EVA ss5624143358 Oct 13, 2022 (156)
68 SANFORD_IMAGENETICS ss5624571618 Oct 13, 2022 (156)
69 SANFORD_IMAGENETICS ss5636443512 Oct 13, 2022 (156)
70 EVA ss5844949494 Oct 13, 2022 (156)
71 EVA ss5848029651 Oct 13, 2022 (156)
72 EVA ss5848618623 Oct 13, 2022 (156)
73 EVA ss5866190700 Oct 13, 2022 (156)
74 EVA ss5964850579 Oct 13, 2022 (156)
75 EVA ss5979719291 Oct 13, 2022 (156)
76 1000Genomes NC_000004.11 - 155530877 Oct 12, 2018 (152)
77 1000Genomes_30x NC_000004.12 - 154609725 Oct 13, 2022 (156)
78 The Avon Longitudinal Study of Parents and Children NC_000004.11 - 155530877 Oct 12, 2018 (152)
79 Genome-wide autozygosity in Daghestan NC_000004.10 - 155750327 Apr 26, 2020 (154)
80 Genetic variation in the Estonian population NC_000004.11 - 155530877 Oct 12, 2018 (152)
81 ExAC NC_000004.11 - 155530877 Oct 12, 2018 (152)
82 gnomAD - Genomes NC_000004.12 - 154609725 Apr 26, 2021 (155)
83 gnomAD - Exomes NC_000004.11 - 155530877 Jul 13, 2019 (153)
84 Genome of the Netherlands Release 5 NC_000004.11 - 155530877 Apr 26, 2020 (154)
85 HapMap NC_000004.12 - 154609725 Apr 26, 2020 (154)
86 Medical Genome Project healthy controls from Spanish population NC_000004.11 - 155530877 Apr 26, 2020 (154)
87 Northern Sweden NC_000004.11 - 155530877 Jul 13, 2019 (153)
88 The PAGE Study NC_000004.12 - 154609725 Jul 13, 2019 (153)
89 Ancient Sardinia genome-wide 1240k capture data generation and analysis NC_000004.11 - 155530877 Apr 26, 2021 (155)
90 TopMed NC_000004.12 - 154609725 Apr 26, 2021 (155)
91 UK 10K study - Twins NC_000004.11 - 155530877 Oct 12, 2018 (152)
92 ALFA NC_000004.12 - 154609725 Apr 26, 2021 (155)
93 ClinVar RCV000017800.4 Oct 12, 2018 (152)
94 ClinVar RCV000791084.3 Oct 13, 2022 (156)
95 ClinVar RCV000851827.1 Apr 26, 2020 (154)
96 ClinVar RCV000963143.3 Oct 13, 2022 (156)
97 ClinVar RCV001144043.2 Oct 13, 2022 (156)
98 ClinVar RCV002222000.1 Oct 13, 2022 (156)
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)
rs2066858 Apr 11, 2002 (104)
rs52837579 Sep 21, 2007 (128)
rs386455320 Aug 06, 2014 (136)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
368714, ss491861211, ss1397393440, ss1590373140, ss3643468848 NC_000004.10:155750326:C:T NC_000004.12:154609724:C:T (self)
24003794, 13350833, 9481519, 7652050, 3901807, 5912594, 190085, 5040726, 330281, 13350833, ss332059395, ss342173634, ss490896363, ss491361848, ss534696384, ss537335143, ss780833495, ss783516502, ss980859249, ss1312502963, ss1611535438, ss1654529471, ss1687672210, ss1711074325, ss1752504129, ss1917785774, ss1946130668, ss1958732028, ss2022635486, ss2734789497, ss2747318921, ss2817238242, ss2985307013, ss2995832764, ss3022428705, ss3629099092, ss3629099093, ss3629099094, ss3634976553, ss3638520123, ss3640683846, ss3644863506, ss3652919354, ss3654079087, ss3663743271, ss3731755861, ss3744530996, ss3745276778, ss3772771212, ss3824053461, ss3825665939, ss3985104354, ss3986294751, ss4017176199, ss5353397380, ss5624143358, ss5624571618, ss5636443512, ss5844949494, ss5848029651, ss5848618623, ss5964850579, ss5979719291 NC_000004.11:155530876:C:T NC_000004.12:154609724:C:T (self)
RCV000017800.4, RCV000791084.3, RCV000851827.1, RCV000963143.3, RCV001144043.2, RCV002222000.1, 31563660, 170031394, 2739175, 384357, 475420745, 11181171979, ss244238367, ss275514559, ss2268558796, ss3713393843, ss3726182986, ss3771162888, ss4638043189, ss5237642909, ss5261622125, ss5460113001, ss5544037725, ss5866190700 NC_000004.12:154609724:C:T NC_000004.12:154609724:C:T (self)
ss7680, ss2978553, ss74813642, ss74870627, ss173972968, ss244304303 NT_016354.19:80078597:C:T NC_000004.12:154609724:C:T (self)
Help

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

3 citations for rs6063
PMID Title Author Year Journal
11435303 Fibrinogen Milano XII: a dysfunctional variant containing 2 amino acid substitutions, Aalpha R16C and gamma G165R. Bolliger-Stucki B et al. 2001 Blood
22273812 Replication and characterisation of genetic variants in the fibrinogen gene cluster with plasma fibrinogen levels and haematological traits in the Third National Health and Nutrition Examination Survey. Jeff JM et al. 2012 Thrombosis and haemostasis
30409984 Assessment of coding region variants in Kuwaiti population: implications for medical genetics and population genomics. John SE et al. 2018 Scientific reports
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.post820+afb47a3d