Name: rs74518378
Published: September 21, 2022
License: Open Access

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.

rs74518378

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:46108044 (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=0.096792 (25620/264690, TOPMED)
T=0.095909 (13123/136828, GnomAD)
T=0.10306 (3159/30652, ALFA) (+ 16 more)
T=0.32911 (9300/28258, 14KJPN)
T=0.32601 (5464/16760, 8.3KJPN)
T=0.1266 (811/6404, 1000G_30x)
T=0.1308 (655/5008, 1000G)
T=0.1362 (610/4480, Estonian)
T=0.0965 (372/3854, ALSPAC)
T=0.1068 (396/3708, TWINSUK)
T=0.2935 (860/2930, KOREAN)
T=0.3524 (640/1816, Korea1K)
T=0.106 (106/998, GoNL)
T=0.108 (65/600, NorthernSweden)
T=0.222 (48/216, Qatari)
T=0.315 (68/216, Vietnamese)
C=0.406 (65/160, SGDP_PRJ)
T=0.17 (7/40, GENOME_DK)
C=0.44 (7/16, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: KANSL1 : 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	30652	C=0.89694	T=0.10306
European	Sub	24592	C=0.88960	T=0.11040
African	Sub	3138	C=0.9659	T=0.0341
African Others	Sub	124	C=0.952	T=0.048
African American	Sub	3014	C=0.9665	T=0.0335
Asian	Sub	126	C=0.770	T=0.230
East Asian	Sub	98	C=0.77	T=0.23
Other Asian	Sub	28	C=0.79	T=0.21
Latin American 1	Sub	164	C=0.835	T=0.165
Latin American 2	Sub	684	C=0.887	T=0.113
South Asian	Sub	114	C=0.904	T=0.096
Other	Sub	1834	C=0.8948	T=0.1052

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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	C=0.903208	T=0.096792
gnomAD - Genomes	Global	Study-wide	136828	C=0.904091	T=0.095909
gnomAD - Genomes	European	Sub	73342	C=0.88525	T=0.11475
gnomAD - Genomes	African	Sub	41880	C=0.96414	T=0.03586
gnomAD - Genomes	American	Sub	13202	C=0.87252	T=0.12748
gnomAD - Genomes	Ashkenazi Jewish	Sub	3188	C=0.9046	T=0.0954
gnomAD - Genomes	East Asian	Sub	3126	C=0.6961	T=0.3039
gnomAD - Genomes	Other	Sub	2090	C=0.8718	T=0.1282
Allele Frequency Aggregator	Total	Global	30652	C=0.89694	T=0.10306
Allele Frequency Aggregator	European	Sub	24592	C=0.88960	T=0.11040
Allele Frequency Aggregator	African	Sub	3138	C=0.9659	T=0.0341
Allele Frequency Aggregator	Other	Sub	1834	C=0.8948	T=0.1052
Allele Frequency Aggregator	Latin American 2	Sub	684	C=0.887	T=0.113
Allele Frequency Aggregator	Latin American 1	Sub	164	C=0.835	T=0.165
Allele Frequency Aggregator	Asian	Sub	126	C=0.770	T=0.230
Allele Frequency Aggregator	South Asian	Sub	114	C=0.904	T=0.096
14KJPN	JAPANESE	Study-wide	28258	C=0.67089	T=0.32911
8.3KJPN	JAPANESE	Study-wide	16760	C=0.67399	T=0.32601
1000Genomes_30x	Global	Study-wide	6404	C=0.8734	T=0.1266
1000Genomes_30x	African	Sub	1786	C=0.9709	T=0.0291
1000Genomes_30x	Europe	Sub	1266	C=0.8863	T=0.1137
1000Genomes_30x	South Asian	Sub	1202	C=0.8769	T=0.1231
1000Genomes_30x	East Asian	Sub	1170	C=0.7000	T=0.3000
1000Genomes_30x	American	Sub	980	C=0.882	T=0.118
1000Genomes	Global	Study-wide	5008	C=0.8692	T=0.1308
1000Genomes	African	Sub	1322	C=0.9690	T=0.0310
1000Genomes	East Asian	Sub	1008	C=0.6974	T=0.3026
1000Genomes	Europe	Sub	1006	C=0.8897	T=0.1103
1000Genomes	South Asian	Sub	978	C=0.883	T=0.117
1000Genomes	American	Sub	694	C=0.879	T=0.121
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.8638	T=0.1362
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.9035	T=0.0965
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.8932	T=0.1068
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.7065	T=0.2935
Korean Genome Project	KOREAN	Study-wide	1816	C=0.6476	T=0.3524
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.894	T=0.106
Northern Sweden	ACPOP	Study-wide	600	C=0.892	T=0.108
Qatari	Global	Study-wide	216	C=0.778	T=0.222
A Vietnamese Genetic Variation Database	Global	Study-wide	216	C=0.685	T=0.315
SGDP_PRJ	Global	Study-wide	160	C=0.406	T=0.594
The Danish reference pan genome	Danish	Study-wide	40	C=0.82	T=0.17
Siberian	Global	Study-wide	16	C=0.44	T=0.56

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 17	NC_000017.11:g.46108044C>T
GRCh37.p13 chr 17	NC_000017.10:g.44185410C>T
KANSL1 RefSeqGene	NG_032784.1:g.122331G>A
GRCh38.p14 chr 17 alt locus HSCHR17_2_CTG5	NT_187663.1:g.810143C>T
GRCh38.p14 chr 17 alt locus HSCHR17_1_CTG5	NT_167251.2:g.678668G>A
GRCh37.p13 chr 17 alt locus HSCHR17_1_CTG5	NT_167251.1:g.680661G>A

Gene: KANSL1, KAT8 regulatory NSL complex subunit 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
KANSL1 transcript variant 3	NM_001193465.2:c.1290-133… NM_001193465.2:c.1290-13343G>A	N/A	Intron Variant
KANSL1 transcript variant 1	NM_001193466.2:c.1290-133… NM_001193466.2:c.1290-13343G>A	N/A	Intron Variant
KANSL1 transcript variant 4	NM_001379198.1:c.1290-133… NM_001379198.1:c.1290-13343G>A	N/A	Intron Variant
KANSL1 transcript variant 2	NM_015443.4:c.1290-13343G… NM_015443.4:c.1290-13343G>A	N/A	Intron Variant
KANSL1 transcript variant X1	XM_006721824.5:c.1290-133… XM_006721824.5:c.1290-13343G>A	N/A	Intron Variant
KANSL1 transcript variant X2	XM_011524628.4:c.1290-133… XM_011524628.4:c.1290-13343G>A	N/A	Intron Variant
KANSL1 transcript variant X8	XM_017024488.3:c.1290-133… XM_017024488.3:c.1290-13343G>A	N/A	Intron Variant
KANSL1 transcript variant X1	XM_047435794.1:c.1290-133… XM_047435794.1:c.1290-13343G>A	N/A	Intron Variant
KANSL1 transcript variant X4	XM_047435795.1:c.1290-133… XM_047435795.1:c.1290-13343G>A	N/A	Intron Variant
KANSL1 transcript variant X5	XM_047435796.1:c.1290-133… XM_047435796.1:c.1290-13343G>A	N/A	Intron Variant
KANSL1 transcript variant X6	XM_047435797.1:c.1290-133… XM_047435797.1:c.1290-13343G>A	N/A	Intron Variant
KANSL1 transcript variant X7	XM_047435798.1:c.1290-133… XM_047435798.1:c.1290-13343G>A	N/A	Intron Variant
KANSL1 transcript variant X9	XM_047435799.1:c.1290-133… XM_047435799.1:c.1290-13343G>A	N/A	Intron Variant
KANSL1 transcript variant X3	XM_047435800.1:c.1290-133… XM_047435800.1:c.1290-13343G>A	N/A	Intron Variant
KANSL1 transcript variant X4	XM_047435801.1:c.60-13343… XM_047435801.1:c.60-13343G>A	N/A	Intron Variant

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

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 17	NC_000017.11:g.46108044=	NC_000017.11:g.46108044C>T
GRCh37.p13 chr 17	NC_000017.10:g.44185410=	NC_000017.10:g.44185410C>T
KANSL1 RefSeqGene	NG_032784.1:g.122331=	NG_032784.1:g.122331G>A
GRCh38.p14 chr 17 alt locus HSCHR17_2_CTG5	NT_187663.1:g.810143=	NT_187663.1:g.810143C>T
GRCh38.p14 chr 17 alt locus HSCHR17_1_CTG5	NT_167251.2:g.678668=	NT_167251.2:g.678668G>A
GRCh37.p13 chr 17 alt locus HSCHR17_1_CTG5	NT_167251.1:g.680661=	NT_167251.1:g.680661G>A
KANSL1 transcript variant 3	NM_001193465.1:c.1290-13343=	NM_001193465.1:c.1290-13343G>A
KANSL1 transcript variant 3	NM_001193465.2:c.1290-13343=	NM_001193465.2:c.1290-13343G>A
KANSL1 transcript variant 1	NM_001193466.1:c.1290-13343=	NM_001193466.1:c.1290-13343G>A
KANSL1 transcript variant 1	NM_001193466.2:c.1290-13343=	NM_001193466.2:c.1290-13343G>A
KANSL1 transcript variant 4	NM_001379198.1:c.1290-13343=	NM_001379198.1:c.1290-13343G>A
KANSL1 transcript variant 2	NM_015443.3:c.1290-13343=	NM_015443.3:c.1290-13343G>A
KANSL1 transcript variant 2	NM_015443.4:c.1290-13343=	NM_015443.4:c.1290-13343G>A
KANSL1 transcript variant X1	XM_005257232.1:c.1290-13343=	XM_005257232.1:c.1290-13343G>A
KANSL1 transcript variant X2	XM_005257233.1:c.1290-13343=	XM_005257233.1:c.1290-13343G>A
KANSL1 transcript variant X3	XM_005257234.1:c.1290-13343=	XM_005257234.1:c.1290-13343G>A
KANSL1 transcript variant X4	XM_005257235.1:c.1290-13343=	XM_005257235.1:c.1290-13343G>A
KANSL1 transcript variant X2	XM_005275644.1:c.1290-13033=	XM_005275644.1:c.1290-13033G>A
KANSL1 transcript variant X1	XM_005275645.1:c.1290-13033=	XM_005275645.1:c.1290-13033G>A
KANSL1 transcript variant X1	XM_006721824.5:c.1290-13343=	XM_006721824.5:c.1290-13343G>A
KANSL1 transcript variant X2	XM_011524628.4:c.1290-13343=	XM_011524628.4:c.1290-13343G>A
KANSL1 transcript variant X8	XM_017024488.3:c.1290-13343=	XM_017024488.3:c.1290-13343G>A
KANSL1 transcript variant X1	XM_047435794.1:c.1290-13343=	XM_047435794.1:c.1290-13343G>A
KANSL1 transcript variant X4	XM_047435795.1:c.1290-13343=	XM_047435795.1:c.1290-13343G>A
KANSL1 transcript variant X5	XM_047435796.1:c.1290-13343=	XM_047435796.1:c.1290-13343G>A
KANSL1 transcript variant X6	XM_047435797.1:c.1290-13343=	XM_047435797.1:c.1290-13343G>A
KANSL1 transcript variant X7	XM_047435798.1:c.1290-13343=	XM_047435798.1:c.1290-13343G>A
KANSL1 transcript variant X9	XM_047435799.1:c.1290-13343=	XM_047435799.1:c.1290-13343G>A
KANSL1 transcript variant X3	XM_047435800.1:c.1290-13343=	XM_047435800.1:c.1290-13343G>A
KANSL1 transcript variant X4	XM_047435801.1:c.60-13343=	XM_047435801.1:c.60-13343G>A

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#.

62 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	GMI	ss158054278	Dec 01, 2009 (131)
2	1000GENOMES	ss227557440	Jul 14, 2010 (137)
3	1000GENOMES	ss237251841	Jul 15, 2010 (137)
4	1000GENOMES	ss243546968	Jul 15, 2010 (137)
5	BL	ss255653038	May 09, 2011 (137)
6	GMI	ss282773600	May 04, 2012 (137)
7	GMI	ss287183963	Apr 25, 2013 (138)
8	ILLUMINA	ss483353670	May 04, 2012 (137)
9	ILLUMINA	ss483629807	May 04, 2012 (137)
10	ILLUMINA	ss535567301	Sep 08, 2015 (146)
11	TISHKOFF	ss565286586	Apr 25, 2013 (138)
12	SSMP	ss661091163	Apr 25, 2013 (138)
13	ILLUMINA	ss780245587	Sep 08, 2015 (146)
14	ILLUMINA	ss782119957	Sep 08, 2015 (146)
15	ILLUMINA	ss835731128	Sep 08, 2015 (146)
16	EVA-GONL	ss993132285	Aug 21, 2014 (142)
17	JMKIDD_LAB	ss1081074494	Aug 21, 2014 (142)
18	1000GENOMES	ss1358752286	Aug 21, 2014 (142)
19	DDI	ss1428039047	Apr 01, 2015 (144)
20	EVA_GENOME_DK	ss1578166884	Apr 01, 2015 (144)
21	EVA_UK10K_ALSPAC	ss1635699493	Apr 01, 2015 (144)
22	EVA_UK10K_TWINSUK	ss1678693526	Apr 01, 2015 (144)
23	EVA_DECODE	ss1697175458	Apr 01, 2015 (144)
24	WEILL_CORNELL_DGM	ss1936593417	Feb 12, 2016 (147)
25	JJLAB	ss2029073249	Sep 14, 2016 (149)
26	USC_VALOUEV	ss2157546350	Dec 20, 2016 (150)
27	SYSTEMSBIOZJU	ss2629031781	Nov 08, 2017 (151)
28	ILLUMINA	ss2633399482	Nov 08, 2017 (151)
29	GRF	ss2702106602	Nov 08, 2017 (151)
30	SWEGEN	ss3015577217	Nov 08, 2017 (151)
31	BIOINF_KMB_FNS_UNIBA	ss3028357886	Nov 08, 2017 (151)
32	CSHL	ss3351754905	Nov 08, 2017 (151)
33	ILLUMINA	ss3627675518	Oct 12, 2018 (152)
34	ILLUMINA	ss3631380370	Oct 12, 2018 (152)
35	ILLUMINA	ss3641993565	Oct 12, 2018 (152)
36	EGCUT_WGS	ss3682459217	Jul 13, 2019 (153)
37	EVA_DECODE	ss3700516694	Jul 13, 2019 (153)
38	ACPOP	ss3742046997	Jul 13, 2019 (153)
39	EVA	ss3754696361	Jul 13, 2019 (153)
40	KHV_HUMAN_GENOMES	ss3819964224	Jul 13, 2019 (153)
41	EVA	ss3834880490	Apr 27, 2020 (154)
42	EVA	ss3841050912	Apr 27, 2020 (154)
43	EVA	ss3846548030	Apr 27, 2020 (154)
44	SGDP_PRJ	ss3885800911	Apr 27, 2020 (154)
45	KRGDB	ss3935500748	Apr 27, 2020 (154)
46	KOGIC	ss3978889673	Apr 27, 2020 (154)
47	VINODS	ss4033019524	Apr 26, 2021 (155)
48	TOPMED	ss5036842383	Apr 26, 2021 (155)
49	TOMMO_GENOMICS	ss5222538130	Apr 26, 2021 (155)
50	1000G_HIGH_COVERAGE	ss5303222123	Oct 16, 2022 (156)
51	EVA	ss5315888158	Oct 16, 2022 (156)
52	EVA	ss5427751927	Oct 16, 2022 (156)
53	HUGCELL_USP	ss5496265843	Oct 16, 2022 (156)
54	1000G_HIGH_COVERAGE	ss5606983428	Oct 16, 2022 (156)
55	SANFORD_IMAGENETICS	ss5660152125	Oct 16, 2022 (156)
56	TOMMO_GENOMICS	ss5778788759	Oct 16, 2022 (156)
57	YY_MCH	ss5816562006	Oct 16, 2022 (156)
58	EVA	ss5834018419	Oct 16, 2022 (156)
59	EVA	ss5851816498	Oct 16, 2022 (156)
60	EVA	ss5914038930	Oct 16, 2022 (156)
61	EVA	ss5951543522	Oct 16, 2022 (156)
62	EVA	ss5980969289	Oct 16, 2022 (156)
63	1000Genomes	NC_000017.10 - 44185410	Oct 12, 2018 (152)
64	1000Genomes_30x	NC_000017.11 - 46108044	Oct 16, 2022 (156)
65	The Avon Longitudinal Study of Parents and Children	NC_000017.10 - 44185410	Oct 12, 2018 (152)
66	Genetic variation in the Estonian population	NC_000017.10 - 44185410	Oct 12, 2018 (152)
67	The Danish reference pan genome	NC_000017.10 - 44185410	Apr 27, 2020 (154)
68	gnomAD - Genomes	NC_000017.11 - 46108044	Apr 26, 2021 (155)
69	Genome of the Netherlands Release 5	NC_000017.10 - 44185410	Apr 27, 2020 (154)
70	KOREAN population from KRGDB	NC_000017.10 - 44185410	Apr 27, 2020 (154)
71	Korean Genome Project	NC_000017.11 - 46108044	Apr 27, 2020 (154)
72	Northern Sweden	NC_000017.10 - 44185410	Jul 13, 2019 (153)
73	Qatari	NC_000017.10 - 44185410	Apr 27, 2020 (154)
74	SGDP_PRJ	NC_000017.10 - 44185410	Apr 27, 2020 (154)
75	Siberian	NC_000017.10 - 44185410	Apr 27, 2020 (154)
76	8.3KJPN	NC_000017.10 - 44185410	Apr 26, 2021 (155)
77	14KJPN	NC_000017.11 - 46108044	Oct 16, 2022 (156)
78	TopMed	NC_000017.11 - 46108044	Apr 26, 2021 (155)
79	UK 10K study - Twins	NC_000017.10 - 44185410	Oct 12, 2018 (152)
80	A Vietnamese Genetic Variation Database	NC_000017.10 - 44185410	Jul 13, 2019 (153)
81	ALFA	NC_000017.11 - 46108044	Apr 26, 2021 (155)

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)
rs114387943	May 04, 2012 (137)
rs116932875	Aug 16, 2010 (132)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss255653038, ss282773600, ss287183963, ss483629807, ss1697175458	NC_000017.9:41541192:C:T	NC_000017.11:46108043:C:T	(self)
71997746, 39900738, 28197465, 4368856, 17782856, 42678142, 15331862, 18635339, 37817891, 10062704, 80507437, 39900738, 8826985, ss227557440, ss237251841, ss243546968, ss483353670, ss535567301, ss565286586, ss661091163, ss780245587, ss782119957, ss835731128, ss993132285, ss1081074494, ss1358752286, ss1428039047, ss1578166884, ss1635699493, ss1678693526, ss1936593417, ss2029073249, ss2157546350, ss2629031781, ss2633399482, ss2702106602, ss3015577217, ss3351754905, ss3627675518, ss3631380370, ss3641993565, ss3682459217, ss3742046997, ss3754696361, ss3834880490, ss3841050912, ss3885800911, ss3935500748, ss5222538130, ss5315888158, ss5427751927, ss5660152125, ss5834018419, ss5951543522, ss5980969289	NC_000017.10:44185409:C:T	NC_000017.11:46108043:C:T	(self)
94509363, 507985743, 35267674, 112625863, 252388045, 3509223668, ss3028357886, ss3700516694, ss3819964224, ss3846548030, ss3978889673, ss5036842383, ss5303222123, ss5496265843, ss5606983428, ss5778788759, ss5816562006, ss5851816498, ss5914038930	NC_000017.11:46108043:C:T	NC_000017.11:46108043:C:T	(self)
ss158054278	NT_010783.15:9459561:C:T	NC_000017.11:46108043:C:T	(self)
ss4033019524	NT_187663.1:810142:C:T	NC_000017.11:46108043:C:T	(self)

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

No publications for rs74518378

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
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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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs74518378