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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.

rs35299026

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr19:48815123 (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 / G>T
Variation Type
SNV Single Nucleotide Variation
Frequency
A=0.031097 (8231/264690, TOPMED)
A=0.045539 (10673/234368, ALFA)
A=0.034452 (4829/140168, GnomAD) (+ 16 more)
A=0.01714 (1349/78700, PAGE_STUDY)
A=0.03537 (460/13006, GO-ESP)
A=0.0158 (101/6404, 1000G_30x)
A=0.0158 (79/5008, 1000G)
A=0.0507 (227/4480, Estonian)
A=0.0457 (176/3854, ALSPAC)
A=0.0483 (179/3708, TWINSUK)
A=0.054 (54/998, GoNL)
A=0.003 (2/792, PRJEB37584)
A=0.025 (15/600, NorthernSweden)
A=0.058 (31/534, MGP)
A=0.053 (16/302, FINRISK)
A=0.037 (8/216, Qatari)
A=0.03 (1/40, GENOME_DK)
G=0.50 (9/18, SGDP_PRJ)
A=0.50 (9/18, SGDP_PRJ)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
HSD17B14 : Missense 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 250716 G=0.955372 A=0.044628
European Sub 204434 G=0.951133 A=0.048867
African Sub 11818 G=0.98951 A=0.01049
African Others Sub 426 G=1.000 A=0.000
African American Sub 11392 G=0.98912 A=0.01088
Asian Sub 6680 G=0.9994 A=0.0006
East Asian Sub 4790 G=0.9994 A=0.0006
Other Asian Sub 1890 G=0.9995 A=0.0005
Latin American 1 Sub 1226 G=0.9649 A=0.0351
Latin American 2 Sub 5268 G=0.9715 A=0.0285
South Asian Sub 344 G=0.983 A=0.017
Other Sub 20946 G=0.95837 A=0.04163


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=0.968903 A=0.031097
Allele Frequency Aggregator Total Global 234368 G=0.954461 A=0.045539
Allele Frequency Aggregator European Sub 194356 G=0.950766 A=0.049234
Allele Frequency Aggregator Other Sub 19512 G=0.95844 A=0.04156
Allele Frequency Aggregator African Sub 6982 G=0.9871 A=0.0129
Allele Frequency Aggregator Asian Sub 6680 G=0.9994 A=0.0006
Allele Frequency Aggregator Latin American 2 Sub 5268 G=0.9715 A=0.0285
Allele Frequency Aggregator Latin American 1 Sub 1226 G=0.9649 A=0.0351
Allele Frequency Aggregator South Asian Sub 344 G=0.983 A=0.017
gnomAD - Genomes Global Study-wide 140168 G=0.965548 A=0.034452
gnomAD - Genomes European Sub 75936 G=0.95164 A=0.04836
gnomAD - Genomes African Sub 42006 G=0.99093 A=0.00907
gnomAD - Genomes American Sub 13628 G=0.96661 A=0.03339
gnomAD - Genomes Ashkenazi Jewish Sub 3320 G=0.9280 A=0.0720
gnomAD - Genomes East Asian Sub 3134 G=1.0000 A=0.0000
gnomAD - Genomes Other Sub 2144 G=0.9618 A=0.0382
The PAGE Study Global Study-wide 78700 G=0.98286 A=0.01714
The PAGE Study AfricanAmerican Sub 32516 G=0.99133 A=0.00867
The PAGE Study Mexican Sub 10808 G=0.97502 A=0.02498
The PAGE Study Asian Sub 8318 G=0.9999 A=0.0001
The PAGE Study PuertoRican Sub 7918 G=0.9746 A=0.0254
The PAGE Study NativeHawaiian Sub 4534 G=0.9865 A=0.0135
The PAGE Study Cuban Sub 4230 G=0.9506 A=0.0494
The PAGE Study Dominican Sub 3828 G=0.9676 A=0.0324
The PAGE Study CentralAmerican Sub 2450 G=0.9702 A=0.0298
The PAGE Study SouthAmerican Sub 1982 G=0.9642 A=0.0358
The PAGE Study NativeAmerican Sub 1260 G=0.9683 A=0.0317
The PAGE Study SouthAsian Sub 856 G=0.980 A=0.020
GO Exome Sequencing Project Global Study-wide 13006 G=0.96463 A=0.03537
GO Exome Sequencing Project European American Sub 8600 G=0.9508 A=0.0492
GO Exome Sequencing Project African American Sub 4406 G=0.9916 A=0.0084
1000Genomes_30x Global Study-wide 6404 G=0.9842 A=0.0158
1000Genomes_30x African Sub 1786 G=1.0000 A=0.0000
1000Genomes_30x Europe Sub 1266 G=0.9550 A=0.0450
1000Genomes_30x South Asian Sub 1202 G=0.9842 A=0.0158
1000Genomes_30x East Asian Sub 1170 G=1.0000 A=0.0000
1000Genomes_30x American Sub 980 G=0.974 A=0.026
1000Genomes Global Study-wide 5008 G=0.9842 A=0.0158
1000Genomes African Sub 1322 G=1.0000 A=0.0000
1000Genomes East Asian Sub 1008 G=1.0000 A=0.0000
1000Genomes Europe Sub 1006 G=0.9573 A=0.0427
1000Genomes South Asian Sub 978 G=0.981 A=0.019
1000Genomes American Sub 694 G=0.976 A=0.024
Genetic variation in the Estonian population Estonian Study-wide 4480 G=0.9493 A=0.0507
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 G=0.9543 A=0.0457
UK 10K study - Twins TWIN COHORT Study-wide 3708 G=0.9517 A=0.0483
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 G=0.946 A=0.054
CNV burdens in cranial meningiomas Global Study-wide 792 G=0.997 A=0.003
CNV burdens in cranial meningiomas CRM Sub 792 G=0.997 A=0.003
Northern Sweden ACPOP Study-wide 600 G=0.975 A=0.025
Medical Genome Project healthy controls from Spanish population Spanish controls Study-wide 534 G=0.942 A=0.058
FINRISK Finnish from FINRISK project Study-wide 302 G=0.947 A=0.053
Qatari Global Study-wide 216 G=0.963 A=0.037
The Danish reference pan genome Danish Study-wide 40 G=0.97 A=0.03
SGDP_PRJ Global Study-wide 18 G=0.50 A=0.50
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 19 NC_000019.10:g.48815123G>A
GRCh38.p14 chr 19 NC_000019.10:g.48815123G>T
GRCh37.p13 chr 19 NC_000019.9:g.49318380G>A
GRCh37.p13 chr 19 NC_000019.9:g.49318380G>T
BCAT2 RefSeqGene NG_013003.1:g.941C>T
BCAT2 RefSeqGene NG_013003.1:g.941C>A
Gene: HSD17B14, hydroxysteroid 17-beta dehydrogenase 14 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
HSD17B14 transcript NM_016246.3:c.388C>T R [CGG] > W [TGG] Coding Sequence Variant
17-beta-hydroxysteroid dehydrogenase 14 NP_057330.2:p.Arg130Trp R (Arg) > W (Trp) Missense Variant
HSD17B14 transcript NM_016246.3:c.388C>A R [CGG] > R [AGG] Coding Sequence Variant
17-beta-hydroxysteroid dehydrogenase 14 NP_057330.2:p.Arg130= R (Arg) > R (Arg) Synonymous Variant
HSD17B14 transcript variant X1 XM_005258969.5:c.388C>T R [CGG] > W [TGG] Coding Sequence Variant
17-beta-hydroxysteroid dehydrogenase 14 isoform X1 XP_005259026.1:p.Arg130Trp R (Arg) > W (Trp) Missense Variant
HSD17B14 transcript variant X1 XM_005258969.5:c.388C>A R [CGG] > R [AGG] Coding Sequence Variant
17-beta-hydroxysteroid dehydrogenase 14 isoform X1 XP_005259026.1:p.Arg130= R (Arg) > R (Arg) Synonymous Variant
HSD17B14 transcript variant X2 XM_047438897.1:c.296C>T A [GCG] > V [GTG] Coding Sequence Variant
17-beta-hydroxysteroid dehydrogenase 14 isoform X2 XP_047294853.1:p.Ala99Val A (Ala) > V (Val) Missense Variant
HSD17B14 transcript variant X2 XM_047438897.1:c.296C>A A [GCG] > E [GAG] Coding Sequence Variant
17-beta-hydroxysteroid dehydrogenase 14 isoform X2 XP_047294853.1:p.Ala99Glu A (Ala) > E (Glu) 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.

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 T
GRCh38.p14 chr 19 NC_000019.10:g.48815123= NC_000019.10:g.48815123G>A NC_000019.10:g.48815123G>T
GRCh37.p13 chr 19 NC_000019.9:g.49318380= NC_000019.9:g.49318380G>A NC_000019.9:g.49318380G>T
BCAT2 RefSeqGene NG_013003.1:g.941= NG_013003.1:g.941C>T NG_013003.1:g.941C>A
HSD17B14 transcript variant X1 XM_005258969.5:c.388= XM_005258969.5:c.388C>T XM_005258969.5:c.388C>A
HSD17B14 transcript variant X1 XM_005258969.4:c.388= XM_005258969.4:c.388C>T XM_005258969.4:c.388C>A
HSD17B14 transcript variant X1 XM_005258969.3:c.388= XM_005258969.3:c.388C>T XM_005258969.3:c.388C>A
HSD17B14 transcript variant X1 XM_005258969.2:c.388= XM_005258969.2:c.388C>T XM_005258969.2:c.388C>A
HSD17B14 transcript variant X1 XM_005258969.1:c.388= XM_005258969.1:c.388C>T XM_005258969.1:c.388C>A
HSD17B14 transcript NM_016246.3:c.388= NM_016246.3:c.388C>T NM_016246.3:c.388C>A
HSD17B14 transcript NM_016246.2:c.388= NM_016246.2:c.388C>T NM_016246.2:c.388C>A
HSD17B14 transcript variant X2 XM_047438897.1:c.296= XM_047438897.1:c.296C>T XM_047438897.1:c.296C>A
17-beta-hydroxysteroid dehydrogenase 14 isoform X1 XP_005259026.1:p.Arg130= XP_005259026.1:p.Arg130Trp XP_005259026.1:p.Arg130=
17-beta-hydroxysteroid dehydrogenase 14 NP_057330.2:p.Arg130= NP_057330.2:p.Arg130Trp NP_057330.2:p.Arg130=
17-beta-hydroxysteroid dehydrogenase 14 isoform X2 XP_047294853.1:p.Ala99= XP_047294853.1:p.Ala99Val XP_047294853.1:p.Ala99Glu
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#.

82 SubSNP, 22 Frequency submissions
No Submitter Submission ID Date (Build)
1 ABI ss43535909 Mar 14, 2006 (126)
2 HUMANGENOME_JCVI ss96311338 Feb 04, 2009 (130)
3 ENSEMBL ss136248889 Dec 01, 2009 (131)
4 ILLUMINA ss160626265 Dec 01, 2009 (131)
5 1000GENOMES ss237698925 Jul 15, 2010 (132)
6 NHLBI-ESP ss342504763 May 09, 2011 (134)
7 ILLUMINA ss481719823 Sep 08, 2015 (146)
8 1000GENOMES ss491163737 May 04, 2012 (137)
9 EXOME_CHIP ss491550957 May 04, 2012 (137)
10 CLINSEQ_SNP ss491771284 May 04, 2012 (137)
11 ILLUMINA ss536553746 Sep 08, 2015 (146)
12 ILLUMINA ss780748067 Sep 08, 2015 (146)
13 ILLUMINA ss783425936 Sep 08, 2015 (146)
14 JMKIDD_LAB ss974507086 Aug 21, 2014 (142)
15 EVA-GONL ss994369096 Aug 21, 2014 (142)
16 1000GENOMES ss1363444409 Aug 21, 2014 (142)
17 EVA_GENOME_DK ss1578665593 Apr 01, 2015 (144)
18 EVA_FINRISK ss1584118930 Apr 01, 2015 (144)
19 EVA_UK10K_ALSPAC ss1638098665 Apr 01, 2015 (144)
20 EVA_UK10K_TWINSUK ss1681092698 Apr 01, 2015 (144)
21 EVA_EXAC ss1693714487 Apr 01, 2015 (144)
22 EVA_EXAC ss1693714488 Apr 01, 2015 (144)
23 EVA_DECODE ss1698424315 Apr 01, 2015 (144)
24 EVA_MGP ss1711520035 Apr 01, 2015 (144)
25 ILLUMINA ss1752290562 Sep 08, 2015 (146)
26 ILLUMINA ss1917939962 Feb 12, 2016 (147)
27 WEILL_CORNELL_DGM ss1937868696 Feb 12, 2016 (147)
28 ILLUMINA ss1946539153 Feb 12, 2016 (147)
29 ILLUMINA ss1959874223 Feb 12, 2016 (147)
30 JJLAB ss2029710175 Sep 14, 2016 (149)
31 HUMAN_LONGEVITY ss2226252867 Dec 20, 2016 (150)
32 GNOMAD ss2744171200 Nov 08, 2017 (151)
33 GNOMAD ss2750244262 Nov 08, 2017 (151)
34 GNOMAD ss2963683626 Nov 08, 2017 (151)
35 AFFY ss2985148376 Nov 08, 2017 (151)
36 SWEGEN ss3017594414 Nov 08, 2017 (151)
37 ILLUMINA ss3021916213 Nov 08, 2017 (151)
38 BIOINF_KMB_FNS_UNIBA ss3028685640 Nov 08, 2017 (151)
39 CSHL ss3352335088 Nov 08, 2017 (151)
40 ILLUMINA ss3627948934 Oct 12, 2018 (152)
41 ILLUMINA ss3627948935 Oct 12, 2018 (152)
42 ILLUMINA ss3634740273 Oct 12, 2018 (152)
43 ILLUMINA ss3636427026 Oct 12, 2018 (152)
44 ILLUMINA ss3640447581 Oct 12, 2018 (152)
45 ILLUMINA ss3644727688 Oct 12, 2018 (152)
46 OMUKHERJEE_ADBS ss3646539598 Oct 12, 2018 (152)
47 URBANLAB ss3650932083 Oct 12, 2018 (152)
48 ILLUMINA ss3652342889 Oct 12, 2018 (152)
49 ILLUMINA ss3653919494 Oct 12, 2018 (152)
50 EGCUT_WGS ss3684335067 Jul 13, 2019 (153)
51 EVA_DECODE ss3702908721 Jul 13, 2019 (153)
52 ILLUMINA ss3725737335 Jul 13, 2019 (153)
53 ACPOP ss3743099741 Jul 13, 2019 (153)
54 ILLUMINA ss3744467231 Jul 13, 2019 (153)
55 ILLUMINA ss3745040279 Jul 13, 2019 (153)
56 PAGE_CC ss3772020051 Jul 13, 2019 (153)
57 ILLUMINA ss3772537326 Jul 13, 2019 (153)
58 KHV_HUMAN_GENOMES ss3821394868 Jul 13, 2019 (153)
59 EVA ss3825311269 Apr 27, 2020 (154)
60 EVA ss3825940429 Apr 27, 2020 (154)
61 EVA ss3835497373 Apr 27, 2020 (154)
62 SGDP_PRJ ss3888372174 Apr 27, 2020 (154)
63 FSA-LAB ss3984159098 Apr 26, 2021 (155)
64 EVA ss3984743456 Apr 26, 2021 (155)
65 EVA ss3986806475 Apr 26, 2021 (155)
66 TOPMED ss5077161946 Apr 26, 2021 (155)
67 EVA ss5236963850 Apr 26, 2021 (155)
68 1000G_HIGH_COVERAGE ss5307509871 Oct 13, 2022 (156)
69 EVA ss5435278197 Oct 13, 2022 (156)
70 HUGCELL_USP ss5499988571 Oct 13, 2022 (156)
71 EVA ss5512119486 Oct 13, 2022 (156)
72 1000G_HIGH_COVERAGE ss5613350017 Oct 13, 2022 (156)
73 SANFORD_IMAGENETICS ss5624430664 Oct 13, 2022 (156)
74 SANFORD_IMAGENETICS ss5662536410 Oct 13, 2022 (156)
75 EVA ss5800224655 Oct 13, 2022 (156)
76 EVA ss5840649204 Oct 13, 2022 (156)
77 EVA ss5847498348 Oct 13, 2022 (156)
78 EVA ss5847847974 Oct 13, 2022 (156)
79 EVA ss5848498061 Oct 13, 2022 (156)
80 EVA ss5928374621 Oct 13, 2022 (156)
81 EVA ss5953944120 Oct 13, 2022 (156)
82 EVA ss5979549114 Oct 13, 2022 (156)
83 1000Genomes NC_000019.9 - 49318380 Oct 12, 2018 (152)
84 1000Genomes_30x NC_000019.10 - 48815123 Oct 13, 2022 (156)
85 The Avon Longitudinal Study of Parents and Children NC_000019.9 - 49318380 Oct 12, 2018 (152)
86 Genetic variation in the Estonian population NC_000019.9 - 49318380 Oct 12, 2018 (152)
87 ExAC

Submission ignored due to conflicting rows:
Row 4226856 (NC_000019.9:49318379:G:G 116533/120942, NC_000019.9:49318379:G:A 4409/120942)
Row 4226857 (NC_000019.9:49318379:G:G 120939/120942, NC_000019.9:49318379:G:T 3/120942)

- Oct 12, 2018 (152)
88 ExAC

Submission ignored due to conflicting rows:
Row 4226856 (NC_000019.9:49318379:G:G 116533/120942, NC_000019.9:49318379:G:A 4409/120942)
Row 4226857 (NC_000019.9:49318379:G:G 120939/120942, NC_000019.9:49318379:G:T 3/120942)

- Oct 12, 2018 (152)
89 FINRISK NC_000019.9 - 49318380 Apr 27, 2020 (154)
90 The Danish reference pan genome NC_000019.9 - 49318380 Apr 27, 2020 (154)
91 gnomAD - Genomes NC_000019.10 - 48815123 Apr 26, 2021 (155)
92 gnomAD - Exomes

Submission ignored due to conflicting rows:
Row 13484592 (NC_000019.9:49318379:G:G 242136/251312, NC_000019.9:49318379:G:A 9176/251312)
Row 13484593 (NC_000019.9:49318379:G:G 251307/251312, NC_000019.9:49318379:G:T 5/251312)

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

Submission ignored due to conflicting rows:
Row 13484592 (NC_000019.9:49318379:G:G 242136/251312, NC_000019.9:49318379:G:A 9176/251312)
Row 13484593 (NC_000019.9:49318379:G:G 251307/251312, NC_000019.9:49318379:G:T 5/251312)

- Jul 13, 2019 (153)
94 GO Exome Sequencing Project NC_000019.9 - 49318380 Oct 12, 2018 (152)
95 Genome of the Netherlands Release 5 NC_000019.9 - 49318380 Apr 27, 2020 (154)
96 Medical Genome Project healthy controls from Spanish population NC_000019.9 - 49318380 Apr 27, 2020 (154)
97 Northern Sweden NC_000019.9 - 49318380 Jul 13, 2019 (153)
98 The PAGE Study NC_000019.10 - 48815123 Jul 13, 2019 (153)
99 CNV burdens in cranial meningiomas NC_000019.9 - 49318380 Apr 26, 2021 (155)
100 Qatari NC_000019.9 - 49318380 Apr 27, 2020 (154)
101 SGDP_PRJ NC_000019.9 - 49318380 Apr 27, 2020 (154)
102 TopMed NC_000019.10 - 48815123 Apr 26, 2021 (155)
103 UK 10K study - Twins NC_000019.9 - 49318380 Oct 12, 2018 (152)
104 ALFA NC_000019.10 - 48815123 Apr 26, 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
ss491771284, ss1698424315 NC_000019.8:54010191:G:A NC_000019.10:48815122:G:A (self)
76861620, 42556282, 30073315, 115391, 4847126, 1768208, 18957575, 635795, 16384606, 293018, 19910618, 40389154, 42556282, ss237698925, ss342504763, ss481719823, ss491163737, ss491550957, ss536553746, ss780748067, ss783425936, ss974507086, ss994369096, ss1363444409, ss1578665593, ss1584118930, ss1638098665, ss1681092698, ss1693714487, ss1711520035, ss1752290562, ss1917939962, ss1937868696, ss1946539153, ss1959874223, ss2029710175, ss2744171200, ss2750244262, ss2963683626, ss2985148376, ss3017594414, ss3021916213, ss3352335088, ss3627948934, ss3627948935, ss3634740273, ss3636427026, ss3640447581, ss3644727688, ss3646539598, ss3652342889, ss3653919494, ss3684335067, ss3743099741, ss3744467231, ss3745040279, ss3772537326, ss3825311269, ss3825940429, ss3835497373, ss3888372174, ss3984159098, ss3984743456, ss3986806475, ss5435278197, ss5512119486, ss5624430664, ss5662536410, ss5800224655, ss5840649204, ss5847498348, ss5847847974, ss5848498061, ss5953944120, ss5979549114 NC_000019.9:49318379:G:A NC_000019.10:48815122:G:A (self)
100875952, 542077506, 1241520, 292707610, 5486755758, ss2226252867, ss3028685640, ss3650932083, ss3702908721, ss3725737335, ss3772020051, ss3821394868, ss5077161946, ss5236963850, ss5307509871, ss5499988571, ss5613350017, ss5928374621 NC_000019.10:48815122:G:A NC_000019.10:48815122:G:A (self)
ss43535909, ss96311338, ss136248889, ss160626265 NT_011109.16:21586597:G:A NC_000019.10:48815122:G:A (self)
ss1693714488, ss2744171200 NC_000019.9:49318379:G:T NC_000019.10:48815122: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 rs35299026
PMID Title Author Year Journal
30217166 Exome sequencing study in patients with multiple sclerosis reveals variants associated with disease course. Gil-Varea E et al. 2018 Journal of neuroinflammation
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.post761+d5e8e07