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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.

rs17548203

Current Build 156

Released September 21, 2022

Organism
Homo sapiens
Position
chr6:3090540 (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=0.099464 (26327/264690, TOPMED)
T=0.095915 (13431/140030, GnomAD)
T=0.13516 (10636/78694, PAGE_STUDY) (+ 17 more)
T=0.05765 (1629/28258, 14KJPN)
T=0.09199 (2399/26080, ALFA)
T=0.05746 (963/16760, 8.3KJPN)
T=0.1182 (757/6404, 1000G_30x)
T=0.1122 (562/5008, 1000G)
T=0.0243 (109/4480, Estonian)
T=0.0283 (109/3854, ALSPAC)
T=0.0251 (93/3708, TWINSUK)
T=0.0370 (108/2922, KOREAN)
T=0.031 (31/998, GoNL)
T=0.012 (7/600, NorthernSweden)
T=0.097 (21/216, Qatari)
T=0.042 (9/212, Vietnamese)
C=0.43 (33/76, SGDP_PRJ)
T=0.03 (1/40, GENOME_DK)
C=0.5 (2/4, Siberian)
T=0.5 (2/4, Siberian)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
RIPK1 : Intron Variant
Publications
0 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: 20230706150541
Population Group Sample Size Ref Allele Alt Allele
Total Global 26080 C=0.90801 T=0.09199
European Sub 16614 C=0.97418 T=0.02582
African Sub 7144 C=0.7487 T=0.2513
African Others Sub 226 C=0.690 T=0.310
African American Sub 6918 C=0.7507 T=0.2493
Asian Sub 152 C=0.974 T=0.026
East Asian Sub 124 C=0.976 T=0.024
Other Asian Sub 28 C=0.96 T=0.04
Latin American 1 Sub 154 C=0.942 T=0.058
Latin American 2 Sub 616 C=0.950 T=0.050
South Asian Sub 106 C=0.925 T=0.075
Other Sub 1294 C=0.9049 T=0.0951


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=0.900536 T=0.099464
gnomAD - Genomes Global Study-wide 140030 C=0.904085 T=0.095915
gnomAD - Genomes European Sub 75882 C=0.97762 T=0.02238
gnomAD - Genomes African Sub 41896 C=0.74468 T=0.25532
gnomAD - Genomes American Sub 13656 C=0.95211 T=0.04789
gnomAD - Genomes Ashkenazi Jewish Sub 3316 C=0.9617 T=0.0383
gnomAD - Genomes East Asian Sub 3132 C=0.9719 T=0.0281
gnomAD - Genomes Other Sub 2148 C=0.9223 T=0.0777
The PAGE Study Global Study-wide 78694 C=0.86484 T=0.13516
The PAGE Study AfricanAmerican Sub 32512 C=0.75508 T=0.24492
The PAGE Study Mexican Sub 10810 C=0.97169 T=0.02831
The PAGE Study Asian Sub 8316 C=0.9455 T=0.0545
The PAGE Study PuertoRican Sub 7918 C=0.9040 T=0.0960
The PAGE Study NativeHawaiian Sub 4534 C=0.9817 T=0.0183
The PAGE Study Cuban Sub 4230 C=0.9402 T=0.0598
The PAGE Study Dominican Sub 3828 C=0.8772 T=0.1228
The PAGE Study CentralAmerican Sub 2448 C=0.9428 T=0.0572
The PAGE Study SouthAmerican Sub 1982 C=0.9652 T=0.0348
The PAGE Study NativeAmerican Sub 1260 C=0.9476 T=0.0524
The PAGE Study SouthAsian Sub 856 C=0.915 T=0.085
14KJPN JAPANESE Study-wide 28258 C=0.94235 T=0.05765
Allele Frequency Aggregator Total Global 26080 C=0.90801 T=0.09199
Allele Frequency Aggregator European Sub 16614 C=0.97418 T=0.02582
Allele Frequency Aggregator African Sub 7144 C=0.7487 T=0.2513
Allele Frequency Aggregator Other Sub 1294 C=0.9049 T=0.0951
Allele Frequency Aggregator Latin American 2 Sub 616 C=0.950 T=0.050
Allele Frequency Aggregator Latin American 1 Sub 154 C=0.942 T=0.058
Allele Frequency Aggregator Asian Sub 152 C=0.974 T=0.026
Allele Frequency Aggregator South Asian Sub 106 C=0.925 T=0.075
8.3KJPN JAPANESE Study-wide 16760 C=0.94254 T=0.05746
1000Genomes_30x Global Study-wide 6404 C=0.8818 T=0.1182
1000Genomes_30x African Sub 1786 C=0.7066 T=0.2934
1000Genomes_30x Europe Sub 1266 C=0.9676 T=0.0324
1000Genomes_30x South Asian Sub 1202 C=0.8993 T=0.1007
1000Genomes_30x East Asian Sub 1170 C=0.9709 T=0.0291
1000Genomes_30x American Sub 980 C=0.962 T=0.038
1000Genomes Global Study-wide 5008 C=0.8878 T=0.1122
1000Genomes African Sub 1322 C=0.7179 T=0.2821
1000Genomes East Asian Sub 1008 C=0.9692 T=0.0308
1000Genomes Europe Sub 1006 C=0.9712 T=0.0288
1000Genomes South Asian Sub 978 C=0.896 T=0.104
1000Genomes American Sub 694 C=0.961 T=0.039
Genetic variation in the Estonian population Estonian Study-wide 4480 C=0.9757 T=0.0243
The Avon Longitudinal Study of Parents and Children PARENT AND CHILD COHORT Study-wide 3854 C=0.9717 T=0.0283
UK 10K study - Twins TWIN COHORT Study-wide 3708 C=0.9749 T=0.0251
KOREAN population from KRGDB KOREAN Study-wide 2922 C=0.9630 T=0.0370
Genome of the Netherlands Release 5 Genome of the Netherlands Study-wide 998 C=0.969 T=0.031
Northern Sweden ACPOP Study-wide 600 C=0.988 T=0.012
Qatari Global Study-wide 216 C=0.903 T=0.097
A Vietnamese Genetic Variation Database Global Study-wide 212 C=0.958 T=0.042
SGDP_PRJ Global Study-wide 76 C=0.43 T=0.57
The Danish reference pan genome Danish Study-wide 40 C=0.97 T=0.03
Siberian Global Study-wide 4 C=0.5 T=0.5
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 6 NC_000006.12:g.3090540C>T
GRCh37.p13 chr 6 NC_000006.11:g.3090774C>T
RIPK1 RefSeqGene NG_063914.1:g.31700C>T
Gene: RIPK1, receptor interacting serine/threonine kinase 1 (plus strand)
Molecule type Change Amino acid[Codon] SO Term
RIPK1 transcript variant 2 NM_001317061.3:c.426+883C…

NM_001317061.3:c.426+883C>T

N/A Intron Variant
RIPK1 transcript variant 3 NM_001354930.2:c.915+883C…

NM_001354930.2:c.915+883C>T

N/A Intron Variant
RIPK1 transcript variant 4 NM_001354931.2:c.777+883C…

NM_001354931.2:c.777+883C>T

N/A Intron Variant
RIPK1 transcript variant 5 NM_001354932.2:c.426+883C…

NM_001354932.2:c.426+883C>T

N/A Intron Variant
RIPK1 transcript variant 6 NM_001354933.2:c.426+883C…

NM_001354933.2:c.426+883C>T

N/A Intron Variant
RIPK1 transcript variant 7 NM_001354934.2:c.426+883C…

NM_001354934.2:c.426+883C>T

N/A Intron Variant
RIPK1 transcript variant 1 NM_003804.6:c.915+883C>T N/A Intron Variant
RIPK1 transcript variant X2 XM_006715237.4:c.916-118C…

XM_006715237.4:c.916-118C>T

N/A Intron Variant
RIPK1 transcript variant X3 XM_017011403.2:c.426+883C…

XM_017011403.2:c.426+883C>T

N/A Intron Variant
RIPK1 transcript variant X5 XM_017011405.2:c.916-118C…

XM_017011405.2:c.916-118C>T

N/A Intron Variant
RIPK1 transcript variant X6 XM_047419445.1:c.1038+883…

XM_047419445.1:c.1038+883C>T

N/A Intron Variant
RIPK1 transcript variant X7 XM_047419446.1:c.1038+883…

XM_047419446.1:c.1038+883C>T

N/A Intron Variant
RIPK1 transcript variant X8 XM_047419447.1:c.915+883C…

XM_047419447.1:c.915+883C>T

N/A Intron Variant
RIPK1 transcript variant X1 XM_047419448.1:c.915+883C…

XM_047419448.1:c.915+883C>T

N/A Intron Variant
RIPK1 transcript variant X4 XM_017011404.3: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
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 6 NC_000006.12:g.3090540= NC_000006.12:g.3090540C>T
GRCh37.p13 chr 6 NC_000006.11:g.3090774= NC_000006.11:g.3090774C>T
RIPK1 RefSeqGene NG_063914.1:g.31700= NG_063914.1:g.31700C>T
RIPK1 transcript variant 2 NM_001317061.3:c.426+883= NM_001317061.3:c.426+883C>T
RIPK1 transcript variant 3 NM_001354930.2:c.915+883= NM_001354930.2:c.915+883C>T
RIPK1 transcript variant 4 NM_001354931.2:c.777+883= NM_001354931.2:c.777+883C>T
RIPK1 transcript variant 5 NM_001354932.2:c.426+883= NM_001354932.2:c.426+883C>T
RIPK1 transcript variant 6 NM_001354933.2:c.426+883= NM_001354933.2:c.426+883C>T
RIPK1 transcript variant 7 NM_001354934.2:c.426+883= NM_001354934.2:c.426+883C>T
RIPK1 transcript NM_003804.3:c.915+883= NM_003804.3:c.915+883C>T
RIPK1 transcript variant 1 NM_003804.6:c.915+883= NM_003804.6:c.915+883C>T
RIPK1 transcript variant X1 XM_005249457.1:c.1425+883= XM_005249457.1:c.1425+883C>T
RIPK1 transcript variant X3 XM_005249458.1:c.915+883= XM_005249458.1:c.915+883C>T
RIPK1 transcript variant X2 XM_006715237.4:c.916-118= XM_006715237.4:c.916-118C>T
RIPK1 transcript variant X3 XM_017011403.2:c.426+883= XM_017011403.2:c.426+883C>T
RIPK1 transcript variant X5 XM_017011405.2:c.916-118= XM_017011405.2:c.916-118C>T
RIPK1 transcript variant X6 XM_047419445.1:c.1038+883= XM_047419445.1:c.1038+883C>T
RIPK1 transcript variant X7 XM_047419446.1:c.1038+883= XM_047419446.1:c.1038+883C>T
RIPK1 transcript variant X8 XM_047419447.1:c.915+883= XM_047419447.1:c.915+883C>T
RIPK1 transcript variant X1 XM_047419448.1:c.915+883= XM_047419448.1:c.915+883C>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#.

64 SubSNP, 19 Frequency submissions
No Submitter Submission ID Date (Build)
1 PGA-UW-FHCRC ss28475988 Sep 20, 2004 (123)
2 ILLUMINA ss172848262 Jul 04, 2010 (132)
3 BUSHMAN ss201334433 Jul 04, 2010 (132)
4 1000GENOMES ss211773992 Jul 14, 2010 (132)
5 1000GENOMES ss222171692 Jul 14, 2010 (132)
6 1000GENOMES ss233296907 Jul 14, 2010 (132)
7 1000GENOMES ss240388171 Jul 15, 2010 (132)
8 ILLUMINA ss244283885 Jul 04, 2010 (132)
9 ILLUMINA ss536973583 Sep 08, 2015 (146)
10 TISHKOFF ss558959284 Apr 25, 2013 (138)
11 SSMP ss652870902 Apr 25, 2013 (138)
12 EVA-GONL ss982517287 Aug 21, 2014 (142)
13 1000GENOMES ss1318722495 Aug 21, 2014 (142)
14 DDI ss1430616700 Apr 01, 2015 (144)
15 EVA_GENOME_DK ss1581504994 Apr 01, 2015 (144)
16 EVA_DECODE ss1592062941 Apr 01, 2015 (144)
17 EVA_UK10K_ALSPAC ss1614813636 Apr 01, 2015 (144)
18 EVA_UK10K_TWINSUK ss1657807669 Apr 01, 2015 (144)
19 HAMMER_LAB ss1804249547 Sep 08, 2015 (146)
20 WEILL_CORNELL_DGM ss1925774636 Feb 12, 2016 (147)
21 ILLUMINA ss1958857058 Feb 12, 2016 (147)
22 JJLAB ss2023501893 Sep 14, 2016 (149)
23 USC_VALOUEV ss2151663835 Dec 20, 2016 (150)
24 HUMAN_LONGEVITY ss2281280157 Dec 20, 2016 (150)
25 GRF ss2707248604 Nov 08, 2017 (151)
26 GNOMAD ss2835099789 Nov 08, 2017 (151)
27 SWEGEN ss2998414121 Nov 08, 2017 (151)
28 ILLUMINA ss3022568570 Nov 08, 2017 (151)
29 CSHL ss3346805289 Nov 08, 2017 (151)
30 ILLUMINA ss3629428437 Oct 12, 2018 (152)
31 ILLUMINA ss3638603076 Oct 12, 2018 (152)
32 ILLUMINA ss3653076286 Oct 12, 2018 (152)
33 EGCUT_WGS ss3666337220 Jul 13, 2019 (153)
34 EVA_DECODE ss3716457314 Jul 13, 2019 (153)
35 ILLUMINA ss3726304873 Jul 13, 2019 (153)
36 ACPOP ss3733146641 Jul 13, 2019 (153)
37 EVA ss3764533452 Jul 13, 2019 (153)
38 PAGE_CC ss3771257950 Jul 13, 2019 (153)
39 PACBIO ss3785354250 Jul 13, 2019 (153)
40 PACBIO ss3790722308 Jul 13, 2019 (153)
41 PACBIO ss3795599467 Jul 13, 2019 (153)
42 KHV_HUMAN_GENOMES ss3807694590 Jul 13, 2019 (153)
43 EVA ss3829697334 Apr 26, 2020 (154)
44 SGDP_PRJ ss3863785477 Apr 26, 2020 (154)
45 KRGDB ss3910519005 Apr 26, 2020 (154)
46 EVA ss4017251498 Apr 26, 2021 (155)
47 TOPMED ss4691608702 Apr 26, 2021 (155)
48 TOMMO_GENOMICS ss5175879566 Apr 26, 2021 (155)
49 EVA ss5237387026 Apr 26, 2021 (155)
50 1000G_HIGH_COVERAGE ss5267180063 Oct 13, 2022 (156)
51 EVA ss5363409383 Oct 13, 2022 (156)
52 HUGCELL_USP ss5464994263 Oct 13, 2022 (156)
53 1000G_HIGH_COVERAGE ss5552502874 Oct 13, 2022 (156)
54 SANFORD_IMAGENETICS ss5624612776 Oct 13, 2022 (156)
55 SANFORD_IMAGENETICS ss5639640354 Oct 13, 2022 (156)
56 TOMMO_GENOMICS ss5713464862 Oct 13, 2022 (156)
57 EVA ss5800126854 Oct 13, 2022 (156)
58 YY_MCH ss5807096341 Oct 13, 2022 (156)
59 EVA ss5841705424 Oct 13, 2022 (156)
60 EVA ss5847282507 Oct 13, 2022 (156)
61 EVA ss5855174430 Oct 13, 2022 (156)
62 EVA ss5882400252 Oct 13, 2022 (156)
63 EVA ss5968133259 Oct 13, 2022 (156)
64 EVA ss5979767822 Oct 13, 2022 (156)
65 1000Genomes NC_000006.11 - 3090774 Oct 12, 2018 (152)
66 1000Genomes_30x NC_000006.12 - 3090540 Oct 13, 2022 (156)
67 The Avon Longitudinal Study of Parents and Children NC_000006.11 - 3090774 Oct 12, 2018 (152)
68 Genetic variation in the Estonian population NC_000006.11 - 3090774 Oct 12, 2018 (152)
69 The Danish reference pan genome NC_000006.11 - 3090774 Apr 26, 2020 (154)
70 gnomAD - Genomes NC_000006.12 - 3090540 Apr 26, 2021 (155)
71 Genome of the Netherlands Release 5 NC_000006.11 - 3090774 Apr 26, 2020 (154)
72 KOREAN population from KRGDB NC_000006.11 - 3090774 Apr 26, 2020 (154)
73 Northern Sweden NC_000006.11 - 3090774 Jul 13, 2019 (153)
74 The PAGE Study NC_000006.12 - 3090540 Jul 13, 2019 (153)
75 Qatari NC_000006.11 - 3090774 Apr 26, 2020 (154)
76 SGDP_PRJ NC_000006.11 - 3090774 Apr 26, 2020 (154)
77 Siberian NC_000006.11 - 3090774 Apr 26, 2020 (154)
78 8.3KJPN NC_000006.11 - 3090774 Apr 26, 2021 (155)
79 14KJPN NC_000006.12 - 3090540 Oct 13, 2022 (156)
80 TopMed NC_000006.12 - 3090540 Apr 26, 2021 (155)
81 UK 10K study - Twins NC_000006.11 - 3090774 Oct 12, 2018 (152)
82 A Vietnamese Genetic Variation Database NC_000006.11 - 3090774 Jul 13, 2019 (153)
83 ALFA NC_000006.12 - 3090540 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
ss201334433, ss211773992, ss1592062941 NC_000006.10:3035772:C:T NC_000006.12:3090539:C:T (self)
30455100, 16951092, 12075468, 7669933, 7524134, 17696399, 6431506, 7816566, 15802457, 4180189, 33848873, 16951092, 3754311, ss222171692, ss233296907, ss240388171, ss536973583, ss558959284, ss652870902, ss982517287, ss1318722495, ss1430616700, ss1581504994, ss1614813636, ss1657807669, ss1804249547, ss1925774636, ss1958857058, ss2023501893, ss2151663835, ss2707248604, ss2835099789, ss2998414121, ss3022568570, ss3346805289, ss3629428437, ss3638603076, ss3653076286, ss3666337220, ss3733146641, ss3764533452, ss3785354250, ss3790722308, ss3795599467, ss3829697334, ss3863785477, ss3910519005, ss4017251498, ss5175879566, ss5237387026, ss5363409383, ss5624612776, ss5639640354, ss5800126854, ss5841705424, ss5847282507, ss5968133259, ss5979767822 NC_000006.11:3090773:C:T NC_000006.12:3090539:C:T (self)
40028809, 215349138, 479419, 47301966, 528986260, 2883581370, ss2281280157, ss3716457314, ss3726304873, ss3771257950, ss3807694590, ss4691608702, ss5267180063, ss5464994263, ss5552502874, ss5713464862, ss5807096341, ss5855174430, ss5882400252 NC_000006.12:3090539:C:T NC_000006.12:3090539:C:T (self)
ss28475988, ss172848262, ss244283885 NT_007592.15:3030773:C:T NC_000006.12:3090539: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.

No publications for rs17548203

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