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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.

rs3825932

Current Build 154

Released April 21, 2020

Organism
Homo sapiens
Position
chr15:78943104 (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
T>C
Variation Type
SNV Single Nucleotide Variation
Frequency
T=0.358272 (48290/134786, ALFA Project)
C=0.476714 (59860/125568, TOPMED)
C=0.32579 (25638/78696, PAGE_STUDY) (+ 15 more)
T=0.49815 (15582/31280, GnomAD)
C=0.3680 (1843/5008, 1000G)
T=0.3384 (1516/4480, Estonian)
T=0.3199 (1233/3854, ALSPAC)
T=0.3150 (1168/3708, TWINSUK)
C=0.0897 (262/2922, KOREAN)
C=0.3351 (632/1886, HapMap)
T=0.343 (342/998, GoNL)
C=0.446 (279/626, Chileans)
T=0.375 (225/600, NorthernSweden)
T=0.274 (92/336, SGDP_PRJ)
T=0.454 (98/216, Qatari)
C=0.079 (17/216, Vietnamese)
T=0.28 (11/40, GENOME_DK)
T=0.27 (8/30, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
CTSH : Intron Variant
Publications
21 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 15 NC_000015.10:g.78943104T>C
GRCh37.p13 chr 15 NC_000015.9:g.79235446T>C
CTSH RefSeqGene NG_009614.1:g.6975A>G
Gene: CTSH, cathepsin H (minus strand)
Molecule type Change Amino acid[Codon] SO Term
CTSH transcript variant 3 NM_001319137.1:c.-985+178…

NM_001319137.1:c.-985+1787A>G

N/A Intron Variant
CTSH transcript variant 1 NM_004390.5:c.91+1787A>G N/A Intron Variant
CTSH transcript variant X2 XM_005254181.2:c.-24+1674…

XM_005254181.2:c.-24+1674A>G

N/A Intron Variant
CTSH transcript variant X1 XM_017021951.1:c.-102+178…

XM_017021951.1:c.-102+1787A>G

N/A Intron Variant
CTSH transcript variant X3 XM_017021952.2:c.-24+1434…

XM_017021952.2:c.-24+1434A>G

N/A Intron Variant
CTSH transcript variant X4 XM_024449852.1:c.-416+178…

XM_024449852.1:c.-416+1787A>G

N/A Intron Variant
CTSH transcript variant X6 XM_024449854.1:c.-847+178…

XM_024449854.1:c.-847+1787A>G

N/A Intron Variant
CTSH transcript variant X7 XM_024449855.1:c.-844+178…

XM_024449855.1:c.-844+1787A>G

N/A Intron Variant
CTSH transcript variant X5 XM_024449853.1:c. N/A Genic Upstream Transcript 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: 20200227123210
Population Group Sample Size Ref Allele Alt Allele
Total Global 134786 T=0.358272 C=0.641728
European Sub 114442 T=0.320494 C=0.679506
African Sub 6058 T=0.7823 C=0.2177
African Others Sub 196 T=0.857 C=0.143
African American Sub 5862 T=0.7798 C=0.2202
Asian Sub 186 T=0.812 C=0.188
East Asian Sub 122 T=0.885 C=0.115
Other Asian Sub 64 T=0.67 C=0.33
Latin American 1 Sub 560 T=0.439 C=0.561
Latin American 2 Sub 6238 T=0.5870 C=0.4130
South Asian Sub 76 T=0.42 C=0.58
Other Sub 7226 T=0.3850 C=0.6150


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
ALFA Total Global 134786 T=0.358272 C=0.641728
ALFA European Sub 114442 T=0.320494 C=0.679506
ALFA Other Sub 7226 T=0.3850 C=0.6150
ALFA Latin American 2 Sub 6238 T=0.5870 C=0.4130
ALFA African Sub 6058 T=0.7823 C=0.2177
ALFA Latin American 1 Sub 560 T=0.439 C=0.561
ALFA Asian Sub 186 T=0.812 C=0.188
ALFA South Asian Sub 76 T=0.42 C=0.58
TopMed Global Study-wide 125568 T=0.523286 C=0.476714
The PAGE Study Global Study-wide 78696 T=0.67421 C=0.32579
The PAGE Study AfricanAmerican Sub 32514 T=0.76662 C=0.23338
The PAGE Study Mexican Sub 10806 T=0.55025 C=0.44975
The PAGE Study Asian Sub 8318 T=0.8721 C=0.1279
The PAGE Study PuertoRican Sub 7918 T=0.5239 C=0.4761
The PAGE Study NativeHawaiian Sub 4534 T=0.6405 C=0.3595
The PAGE Study Cuban Sub 4230 T=0.4369 C=0.5631
The PAGE Study Dominican Sub 3828 T=0.6121 C=0.3879
The PAGE Study CentralAmerican Sub 2450 T=0.6396 C=0.3604
The PAGE Study SouthAmerican Sub 1982 T=0.6034 C=0.3966
The PAGE Study NativeAmerican Sub 1260 T=0.4595 C=0.5405
The PAGE Study SouthAsian Sub 856 T=0.405 C=0.595
gnomAD - Genomes Global Study-wide 31280 T=0.49815 C=0.50185
gnomAD - Genomes European Sub 18834 T=0.33838 C=0.66162
gnomAD - Genomes African Sub 8672 T=0.7847 C=0.2153
gnomAD - Genomes East Asian Sub 1554 T=0.8983 C=0.1017
gnomAD - Genomes Other Sub 1082 T=0.4270 C=0.5730
gnomAD - Genomes American Sub 848 T=0.534 C=0.466
gnomAD - Genomes Ashkenazi Jewish Sub 290 T=0.321 C=0.679
1000Genomes Global Study-wide 5008 T=0.6320 C=0.3680
1000Genomes African Sub 1322 T=0.8374 C=0.1626
1000Genomes East Asian Sub 1008 T=0.9048 C=0.0952
1000Genomes Europe Sub 1006 T=0.3400 C=0.6600
1000Genomes South Asian Sub 978 T=0.402 C=0.598
1000Genomes American Sub 694 T=0.592 C=0.408
Genetic variation in the Estonian population Estonian Study-wide 4480 T=0.3384 C=0.6616
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 T=0.3199 C=0.6801
UK 10K study - Twins TWIN COHORT Study-wide 3708 T=0.3150 C=0.6850
KOREAN population from KRGDB KOREAN Study-wide 2922 T=0.9103 C=0.0897
HapMap Global Study-wide 1886 T=0.6649 C=0.3351
HapMap American Sub 764 T=0.539 C=0.461
HapMap African Sub 692 T=0.773 C=0.227
HapMap Asian Sub 254 T=0.909 C=0.091
HapMap Europe Sub 176 T=0.432 C=0.568
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 T=0.343 C=0.657
Chileans Chilean Study-wide 626 T=0.554 C=0.446
Northern Sweden ACPOP Study-wide 600 T=0.375 C=0.625
SGDP_PRJ Global Study-wide 336 T=0.274 C=0.726
Qatari Global Study-wide 216 T=0.454 C=0.546
A Vietnamese Genetic Variation Database Global Study-wide 216 T=0.921 C=0.079
The Danish reference pan genome Danish Study-wide 40 T=0.28 C=0.72
Siberian Global Study-wide 30 T=0.27 C=0.73
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 T= C
GRCh38.p12 chr 15 NC_000015.10:g.78943104= NC_000015.10:g.78943104T>C
GRCh37.p13 chr 15 NC_000015.9:g.79235446= NC_000015.9:g.79235446T>C
CTSH RefSeqGene NG_009614.1:g.6975= NG_009614.1:g.6975A>G
CTSH transcript variant 3 NM_001319137.1:c.-985+1787= NM_001319137.1:c.-985+1787A>G
CTSH transcript NM_004390.3:c.91+1787= NM_004390.3:c.91+1787A>G
CTSH transcript variant 1 NM_004390.5:c.91+1787= NM_004390.5:c.91+1787A>G
CTSH transcript variant X1 XM_005254180.1:c.-102+1787= XM_005254180.1:c.-102+1787A>G
CTSH transcript variant X2 XM_005254181.1:c.-24+1674= XM_005254181.1:c.-24+1674A>G
CTSH transcript variant X2 XM_005254181.2:c.-24+1674= XM_005254181.2:c.-24+1674A>G
CTSH transcript variant X3 XM_005254182.1:c.-985+1787= XM_005254182.1:c.-985+1787A>G
CTSH transcript variant X4 XM_005254183.1:c.91+1787= XM_005254183.1:c.91+1787A>G
CTSH transcript variant X5 XM_005254184.1:c.91+1787= XM_005254184.1:c.91+1787A>G
CTSH transcript variant X1 XM_017021951.1:c.-102+1787= XM_017021951.1:c.-102+1787A>G
CTSH transcript variant X3 XM_017021952.2:c.-24+1434= XM_017021952.2:c.-24+1434A>G
CTSH transcript variant X4 XM_024449852.1:c.-416+1787= XM_024449852.1:c.-416+1787A>G
CTSH transcript variant X6 XM_024449854.1:c.-847+1787= XM_024449854.1:c.-847+1787A>G
CTSH transcript variant X7 XM_024449855.1:c.-844+1787= XM_024449855.1:c.-844+1787A>G
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#.

110 SubSNP, 18 Frequency submissions
No Submitter Submission ID Date (Build)
1 YUSUKE ss5012413 Aug 28, 2002 (107)
2 CSHL-HAPMAP ss16663703 Feb 27, 2004 (120)
3 CSHL-HAPMAP ss17531556 Feb 27, 2004 (120)
4 SSAHASNP ss21233438 Apr 05, 2004 (121)
5 ABI ss43689710 Mar 15, 2006 (126)
6 AFFY ss66261722 Nov 30, 2006 (127)
7 ILLUMINA ss75245662 Dec 06, 2007 (129)
8 AFFY ss76406823 Dec 08, 2007 (130)
9 HGSV ss78183649 Dec 06, 2007 (129)
10 KRIBB_YJKIM ss81968261 Dec 15, 2007 (130)
11 BGI ss103254546 Dec 01, 2009 (131)
12 ENSEMBL ss132424993 Dec 01, 2009 (131)
13 ILLUMINA ss160648532 Dec 01, 2009 (131)
14 COMPLETE_GENOMICS ss171368497 Jul 04, 2010 (132)
15 AFFY ss173493218 Jul 04, 2010 (132)
16 ILLUMINA ss173656758 Jul 04, 2010 (132)
17 BCM-HGSC-SUB ss207388756 Jul 04, 2010 (132)
18 1000GENOMES ss226989126 Jul 14, 2010 (132)
19 1000GENOMES ss236846676 Jul 15, 2010 (132)
20 1000GENOMES ss243221590 Jul 15, 2010 (132)
21 BL ss255136007 May 09, 2011 (134)
22 GMI ss282329257 May 04, 2012 (137)
23 GMI ss286987860 Apr 25, 2013 (138)
24 PJP ss291758026 May 09, 2011 (134)
25 ILLUMINA ss410931007 Sep 17, 2011 (135)
26 ILLUMINA ss480854453 May 04, 2012 (137)
27 ILLUMINA ss480872439 May 04, 2012 (137)
28 ILLUMINA ss481808787 Sep 08, 2015 (146)
29 ILLUMINA ss485222210 May 04, 2012 (137)
30 EXOME_CHIP ss491498078 May 04, 2012 (137)
31 TISHKOFF ss564595206 Apr 25, 2013 (138)
32 SSMP ss660333164 Apr 25, 2013 (138)
33 ILLUMINA ss780684750 Sep 08, 2015 (146)
34 ILLUMINA ss783057055 Sep 08, 2015 (146)
35 ILLUMINA ss783358214 Sep 08, 2015 (146)
36 ILLUMINA ss832314967 Sep 08, 2015 (146)
37 EVA-GONL ss991985019 Aug 21, 2014 (142)
38 JMKIDD_LAB ss1080269088 Aug 21, 2014 (142)
39 1000GENOMES ss1354242297 Aug 21, 2014 (142)
40 DDI ss1427686776 Apr 01, 2015 (144)
41 EVA_GENOME_DK ss1577714295 Apr 01, 2015 (144)
42 EVA_UK10K_ALSPAC ss1633414653 Apr 01, 2015 (144)
43 EVA_UK10K_TWINSUK ss1676408686 Apr 01, 2015 (144)
44 EVA_DECODE ss1696011092 Apr 01, 2015 (144)
45 EVA_SVP ss1713504410 Apr 01, 2015 (144)
46 ILLUMINA ss1752172617 Sep 08, 2015 (146)
47 ILLUMINA ss1752172618 Sep 08, 2015 (146)
48 HAMMER_LAB ss1808289455 Sep 08, 2015 (146)
49 ILLUMINA ss1917899456 Feb 12, 2016 (147)
50 WEILL_CORNELL_DGM ss1935388375 Feb 12, 2016 (147)
51 ILLUMINA ss1946399529 Feb 12, 2016 (147)
52 ILLUMINA ss1959629092 Feb 12, 2016 (147)
53 GENOMED ss1968153390 Jul 19, 2016 (147)
54 JJLAB ss2028475706 Sep 14, 2016 (149)
55 ILLUMINA ss2094886975 Dec 20, 2016 (150)
56 ILLUMINA ss2095060645 Dec 20, 2016 (150)
57 ILLUMINA ss2095060646 Dec 20, 2016 (150)
58 USC_VALOUEV ss2156884557 Dec 20, 2016 (150)
59 HUMAN_LONGEVITY ss2208377507 Dec 20, 2016 (150)
60 TOPMED ss2372868244 Dec 20, 2016 (150)
61 ILLUMINA ss2633254336 Nov 08, 2017 (151)
62 ILLUMINA ss2633254337 Nov 08, 2017 (151)
63 ILLUMINA ss2633254338 Nov 08, 2017 (151)
64 GRF ss2701365618 Nov 08, 2017 (151)
65 GNOMAD ss2937141983 Nov 08, 2017 (151)
66 AFFY ss2985047886 Nov 08, 2017 (151)
67 AFFY ss2985689622 Nov 08, 2017 (151)
68 SWEGEN ss3013599187 Nov 08, 2017 (151)
69 ILLUMINA ss3021652312 Nov 08, 2017 (151)
70 BIOINF_KMB_FNS_UNIBA ss3028062161 Nov 08, 2017 (151)
71 TOPMED ss3232780069 Nov 08, 2017 (151)
72 CSHL ss3351201153 Nov 08, 2017 (151)
73 ILLUMINA ss3627407364 Oct 12, 2018 (152)
74 ILLUMINA ss3633103753 Oct 12, 2018 (152)
75 ILLUMINA ss3633808688 Oct 12, 2018 (152)
76 ILLUMINA ss3634616257 Oct 12, 2018 (152)
77 ILLUMINA ss3634616258 Oct 12, 2018 (152)
78 ILLUMINA ss3635497454 Oct 12, 2018 (152)
79 ILLUMINA ss3636307142 Oct 12, 2018 (152)
80 ILLUMINA ss3637248766 Oct 12, 2018 (152)
81 ILLUMINA ss3638097161 Oct 12, 2018 (152)
82 ILLUMINA ss3640323578 Oct 12, 2018 (152)
83 ILLUMINA ss3640323579 Oct 12, 2018 (152)
84 ILLUMINA ss3643080594 Oct 12, 2018 (152)
85 ILLUMINA ss3644652643 Oct 12, 2018 (152)
86 URBANLAB ss3650398603 Oct 12, 2018 (152)
87 ILLUMINA ss3652054480 Oct 12, 2018 (152)
88 ILLUMINA ss3652054481 Oct 12, 2018 (152)
89 ILLUMINA ss3652054482 Oct 12, 2018 (152)
90 ILLUMINA ss3653820179 Oct 12, 2018 (152)
91 EGCUT_WGS ss3680738692 Jul 13, 2019 (153)
92 EVA_DECODE ss3698275669 Jul 13, 2019 (153)
93 ILLUMINA ss3725516859 Jul 13, 2019 (153)
94 ACPOP ss3741090172 Jul 13, 2019 (153)
95 ILLUMINA ss3744423468 Jul 13, 2019 (153)
96 ILLUMINA ss3744916779 Jul 13, 2019 (153)
97 ILLUMINA ss3744916780 Jul 13, 2019 (153)
98 EVA ss3753329611 Jul 13, 2019 (153)
99 PAGE_CC ss3771843748 Jul 13, 2019 (153)
100 ILLUMINA ss3772415326 Jul 13, 2019 (153)
101 ILLUMINA ss3772415327 Jul 13, 2019 (153)
102 PACBIO ss3787902397 Jul 13, 2019 (153)
103 PACBIO ss3792905288 Jul 13, 2019 (153)
104 PACBIO ss3797789868 Jul 13, 2019 (153)
105 KHV_HUMAN_GENOMES ss3818633638 Jul 13, 2019 (153)
106 EVA ss3834330963 Apr 27, 2020 (154)
107 EVA ss3840765382 Apr 27, 2020 (154)
108 EVA ss3846255411 Apr 27, 2020 (154)
109 SGDP_PRJ ss3883320775 Apr 27, 2020 (154)
110 KRGDB ss3932551092 Apr 27, 2020 (154)
111 1000Genomes NC_000015.9 - 79235446 Oct 12, 2018 (152)
112 The Avon Longitudinal Study of Parents and Children NC_000015.9 - 79235446 Oct 12, 2018 (152)
113 Chileans NC_000015.9 - 79235446 Apr 27, 2020 (154)
114 Genetic variation in the Estonian population NC_000015.9 - 79235446 Oct 12, 2018 (152)
115 The Danish reference pan genome NC_000015.9 - 79235446 Apr 27, 2020 (154)
116 gnomAD - Genomes NC_000015.9 - 79235446 Jul 13, 2019 (153)
117 Genome of the Netherlands Release 5 NC_000015.9 - 79235446 Apr 27, 2020 (154)
118 HapMap NC_000015.10 - 78943104 Apr 27, 2020 (154)
119 KOREAN population from KRGDB NC_000015.9 - 79235446 Apr 27, 2020 (154)
120 Northern Sweden NC_000015.9 - 79235446 Jul 13, 2019 (153)
121 The PAGE Study NC_000015.10 - 78943104 Jul 13, 2019 (153)
122 Qatari NC_000015.9 - 79235446 Apr 27, 2020 (154)
123 SGDP_PRJ NC_000015.9 - 79235446 Apr 27, 2020 (154)
124 Siberian NC_000015.9 - 79235446 Apr 27, 2020 (154)
125 TopMed NC_000015.10 - 78943104 Oct 12, 2018 (152)
126 UK 10K study - Twins NC_000015.9 - 79235446 Oct 12, 2018 (152)
127 A Vietnamese Genetic Variation Database NC_000015.9 - 79235446 Jul 13, 2019 (153)
128 dbGaP Population Frequency Project NC_000015.10 - 78943104 Apr 27, 2020 (154)
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)
rs56628007 May 27, 2008 (130)
rs59484230 Feb 27, 2009 (130)
Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
ss78183649, ss171368497, ss207388756, ss255136007, ss282329257, ss286987860, ss291758026, ss480854453, ss1696011092, ss1713504410, ss2094886975, ss3643080594 NC_000015.8:77022500:T:C NC_000015.10:78943103:T:C (self)
67342045, 37395581, 156959, 26476940, 3934812, 183777204, 16687214, 39728486, 14375037, 17430305, 35337755, 9400911, 37395581, 8313569, ss226989126, ss236846676, ss243221590, ss480872439, ss481808787, ss485222210, ss491498078, ss564595206, ss660333164, ss780684750, ss783057055, ss783358214, ss832314967, ss991985019, ss1080269088, ss1354242297, ss1427686776, ss1577714295, ss1633414653, ss1676408686, ss1752172617, ss1752172618, ss1808289455, ss1917899456, ss1935388375, ss1946399529, ss1959629092, ss1968153390, ss2028475706, ss2095060645, ss2095060646, ss2156884557, ss2372868244, ss2633254336, ss2633254337, ss2633254338, ss2701365618, ss2937141983, ss2985047886, ss2985689622, ss3013599187, ss3021652312, ss3351201153, ss3627407364, ss3633103753, ss3633808688, ss3634616257, ss3634616258, ss3635497454, ss3636307142, ss3637248766, ss3638097161, ss3640323578, ss3640323579, ss3644652643, ss3652054480, ss3652054481, ss3652054482, ss3653820179, ss3680738692, ss3741090172, ss3744423468, ss3744916779, ss3744916780, ss3753329611, ss3772415326, ss3772415327, ss3787902397, ss3792905288, ss3797789868, ss3834330963, ss3840765382, ss3883320775, ss3932551092 NC_000015.9:79235445:T:C NC_000015.10:78943103:T:C (self)
1299565, 1065217, 133707282, 607134246, ss2208377507, ss3028062161, ss3232780069, ss3650398603, ss3698275669, ss3725516859, ss3771843748, ss3818633638, ss3846255411 NC_000015.10:78943103:T:C NC_000015.10:78943103:T:C (self)
ss16663703, ss17531556, ss21233438 NT_010194.16:50025765:T:C NC_000015.10:78943103:T:C (self)
ss5012413, ss43689710, ss66261722, ss75245662, ss76406823, ss81968261, ss103254546, ss132424993, ss160648532, ss173493218, ss173656758, ss410931007 NT_010194.17:50026002:T:C NC_000015.10:78943103:T:C (self)
Help

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

21 citations for rs3825932
PMID Title Author Year Journal
18978792 Meta-analysis of genome-wide association study data identifies additional type 1 diabetes risk loci. Cooper JD et al. 2008 Nature genetics
19073967 Shared and distinct genetic variants in type 1 diabetes and celiac disease. Smyth DJ et al. 2008 The New England journal of medicine
19430480 Genome-wide association study and meta-analysis find that over 40 loci affect risk of type 1 diabetes. Barrett JC et al. 2009 Nature genetics
20203524 Genetic susceptibility to type 2 diabetes is associated with reduced prostate cancer risk. Pierce BL et al. 2010 Human heredity
20369022 Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations. Nica AC et al. 2010 PLoS genetics
20587799 Genetics of type 1 diabetes: what's next? Pociot F et al. 2010 Diabetes
20647273 Investigation of type 1 diabetes and coeliac disease susceptibility loci for association with juvenile idiopathic arthritis. Hinks A et al. 2010 Annals of the rheumatic diseases
20805105 Synthetic associations in the context of genome-wide association scan signals. Orozco G et al. 2010 Human molecular genetics
20854658 Overlapping genetic susceptibility variants between three autoimmune disorders: rheumatoid arthritis, type 1 diabetes and coeliac disease. Eyre S et al. 2010 Arthritis research & therapy
20885991 Advances and challenges in biomarker development for type 1 diabetes prediction and prevention using omic technologies. Carey C et al. 2010 Expert opinion on medical diagnostics
21266329 Tests for genetic interactions in type 1 diabetes: linkage and stratification analyses of 4,422 affected sib-pairs. Morahan G et al. 2011 Diabetes
21270831 Association between type 1 diabetes and GWAS SNPs in the southeast US Caucasian population. Reddy MV et al. 2011 Genes and immunity
21637794 Identification, replication, and functional fine-mapping of expression quantitative trait loci in primary human liver tissue. Innocenti F et al. 2011 PLoS genetics
21980299 A genome-wide meta-analysis of six type 1 diabetes cohorts identifies multiple associated loci. Bradfield JP et al. 2011 PLoS genetics
22190364 Genome-wide meta-analysis identifies novel multiple sclerosis susceptibility loci. Patsopoulos NA et al. 2011 Annals of neurology
24982147 CTSH regulates β-cell function and disease progression in newly diagnosed type 1 diabetes patients. Fløyel T et al. 2014 Proceedings of the National Academy of Sciences of the United States of America
26245339 Polymorphisms in the CTSH gene may influence the progression of diabetic retinopathy: a candidate-gene study in the Danish Cohort of Pediatric Diabetes 1987 (DCPD1987). Thorsen SU et al. 2015 Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie
26429317 Functional relevance for type 1 diabetes mellitus-associated genetic variants by using integrative analyses. Qiu YH et al. 2015 Human immunology
26904692 Genetic Risk Score Modelling for Disease Progression in New-Onset Type 1 Diabetes Patients: Increased Genetic Load of Islet-Expressed and Cytokine-Regulated Candidate Genes Predicts Poorer Glycemic Control. Brorsson CA et al. 2016 Journal of diabetes research
27730450 Candidate gene studies of diabetic retinopathy in human. Priščáková P et al. 2016 Molecular biology reports
31591105 Longitudinal Pattern of First-Phase Insulin Response Is Associated With Genetic Variants Outside the Class II HLA Region in Children With Multiple Autoantibodies. Koskinen MK et al. 2020 Diabetes
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.post536+f5d31d6