Name: rs4369222
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.

rs4369222

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:14478719 (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>G / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.313113 (82878/264690, TOPMED)
T=0.318535 (44607/140038, GnomAD)
T=0.32908 (15229/46278, ALFA) (+ 19 more)
T=0.33410 (9441/28258, 14KJPN)
T=0.33049 (5539/16760, 8.3KJPN)
T=0.3067 (1964/6404, 1000G_30x)
T=0.3125 (1565/5008, 1000G)
T=0.4116 (1844/4480, Estonian)
T=0.3394 (1308/3854, ALSPAC)
T=0.3290 (1220/3708, TWINSUK)
T=0.3816 (1118/2930, KOREAN)
T=0.3876 (710/1832, Korea1K)
T=0.2650 (301/1136, Daghestan)
T=0.341 (340/998, GoNL)
T=0.367 (230/626, Chileans)
T=0.360 (216/600, NorthernSweden)
C=0.385 (111/288, SGDP_PRJ)
T=0.222 (48/216, Qatari)
T=0.383 (82/214, Vietnamese)
T=0.26 (24/94, Ancient Sardinia)
T=0.30 (12/40, GENOME_DK)
C=0.41 (13/32, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: KAZN : 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	46372	C=0.67116	G=0.00000, T=0.32884
European	Sub	33802	C=0.65526	G=0.00000, T=0.34474
African	Sub	6256	C=0.7566	G=0.0000, T=0.2434
African Others	Sub	208	C=0.856	G=0.000, T=0.144
African American	Sub	6048	C=0.7531	G=0.0000, T=0.2469
Asian	Sub	178	C=0.601	G=0.000, T=0.399
East Asian	Sub	118	C=0.610	G=0.000, T=0.390
Other Asian	Sub	60	C=0.58	G=0.00, T=0.42
Latin American 1	Sub	314	C=0.694	G=0.000, T=0.306
Latin American 2	Sub	2860	C=0.6584	G=0.0000, T=0.3416
South Asian	Sub	128	C=0.805	G=0.000, T=0.195
Other	Sub	2834	C=0.6810	G=0.0000, T=0.3190

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=0.686887	T=0.313113
gnomAD - Genomes	Global	Study-wide	140038	C=0.681465	T=0.318535
gnomAD - Genomes	European	Sub	75864	C=0.65368	T=0.34632
gnomAD - Genomes	African	Sub	41940	C=0.74716	T=0.25284
gnomAD - Genomes	American	Sub	13636	C=0.64828	T=0.35172
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	C=0.7199	T=0.2801
gnomAD - Genomes	East Asian	Sub	3126	C=0.5899	T=0.4101
gnomAD - Genomes	Other	Sub	2152	C=0.6645	T=0.3355
Allele Frequency Aggregator	Total	Global	46278	C=0.67092	G=0.00000, T=0.32908
Allele Frequency Aggregator	European	Sub	33726	C=0.65498	G=0.00000, T=0.34502
Allele Frequency Aggregator	African	Sub	6256	C=0.7566	G=0.0000, T=0.2434
Allele Frequency Aggregator	Latin American 2	Sub	2860	C=0.6584	G=0.0000, T=0.3416
Allele Frequency Aggregator	Other	Sub	2816	C=0.6800	G=0.0000, T=0.3200
Allele Frequency Aggregator	Latin American 1	Sub	314	C=0.694	G=0.000, T=0.306
Allele Frequency Aggregator	Asian	Sub	178	C=0.601	G=0.000, T=0.399
Allele Frequency Aggregator	South Asian	Sub	128	C=0.805	G=0.000, T=0.195
14KJPN	JAPANESE	Study-wide	28258	C=0.66590	T=0.33410
8.3KJPN	JAPANESE	Study-wide	16760	C=0.66951	T=0.33049
1000Genomes_30x	Global	Study-wide	6404	C=0.6933	T=0.3067
1000Genomes_30x	African	Sub	1786	C=0.7486	T=0.2514
1000Genomes_30x	Europe	Sub	1266	C=0.6406	T=0.3594
1000Genomes_30x	South Asian	Sub	1202	C=0.7945	T=0.2055
1000Genomes_30x	East Asian	Sub	1170	C=0.5872	T=0.4128
1000Genomes_30x	American	Sub	980	C=0.663	T=0.337
1000Genomes	Global	Study-wide	5008	C=0.6875	T=0.3125
1000Genomes	African	Sub	1322	C=0.7458	T=0.2542
1000Genomes	East Asian	Sub	1008	C=0.5754	T=0.4246
1000Genomes	Europe	Sub	1006	C=0.6402	T=0.3598
1000Genomes	South Asian	Sub	978	C=0.792	T=0.208
1000Genomes	American	Sub	694	C=0.660	T=0.340
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.5884	T=0.4116
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.6606	T=0.3394
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.6710	T=0.3290
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.6184	G=0.0000, T=0.3816
Korean Genome Project	KOREAN	Study-wide	1832	C=0.6124	T=0.3876
Genome-wide autozygosity in Daghestan	Global	Study-wide	1136	C=0.7350	T=0.2650
Genome-wide autozygosity in Daghestan	Daghestan	Sub	628	C=0.774	T=0.226
Genome-wide autozygosity in Daghestan	Near_East	Sub	144	C=0.653	T=0.347
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	C=0.648	T=0.352
Genome-wide autozygosity in Daghestan	Europe	Sub	108	C=0.667	T=0.333
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	C=0.79	T=0.21
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	C=0.75	T=0.25
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.659	T=0.341
Chileans	Chilean	Study-wide	626	C=0.633	T=0.367
Northern Sweden	ACPOP	Study-wide	600	C=0.640	T=0.360
SGDP_PRJ	Global	Study-wide	288	C=0.385	T=0.615
Qatari	Global	Study-wide	216	C=0.778	T=0.222
A Vietnamese Genetic Variation Database	Global	Study-wide	214	C=0.617	T=0.383
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	94	C=0.74	T=0.26
The Danish reference pan genome	Danish	Study-wide	40	C=0.70	T=0.30
Siberian	Global	Study-wide	32	C=0.41	T=0.59

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 1	NC_000001.11:g.14478719C>G
GRCh38.p14 chr 1	NC_000001.11:g.14478719C>T
GRCh37.p13 chr 1	NC_000001.10:g.14805215C>G
GRCh37.p13 chr 1	NC_000001.10:g.14805215C>T
KAZN RefSeqGene	NG_029844.2:g.590334C>G
KAZN RefSeqGene	NG_029844.2:g.590334C>T

Gene: KAZN, kazrin, periplakin interacting protein (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
KAZN transcript variant D	NM_001017999.3:c.	N/A	Genic Upstream Transcript Variant
KAZN transcript variant B	NM_001018000.4:c.	N/A	Genic Upstream Transcript Variant
KAZN transcript variant C	NM_001018001.3:c.	N/A	Genic Upstream Transcript Variant
KAZN transcript variant F	NM_001370229.1:c.	N/A	Genic Upstream Transcript Variant
KAZN transcript variant G	NM_001370230.1:c.	N/A	Genic Upstream Transcript Variant
KAZN transcript variant H	NM_001370231.1:c.	N/A	Genic Upstream Transcript Variant
KAZN transcript variant A	NM_015209.2:c.	N/A	Genic Upstream Transcript Variant
KAZN transcript variant E	NM_201628.3:c.	N/A	Genic Upstream Transcript Variant
KAZN transcript variant X4	XM_005245795.6:c.280-1202… XM_005245795.6:c.280-120264C>G	N/A	Intron Variant
KAZN transcript variant X1	XM_011541074.4:c.280-1202… XM_011541074.4:c.280-120264C>G	N/A	Intron Variant
KAZN transcript variant X8	XM_011541080.4:c.280-1202… XM_011541080.4:c.280-120264C>G	N/A	Intron Variant
KAZN transcript variant X10	XM_017000768.3:c.280-1202… XM_017000768.3:c.280-120264C>G	N/A	Intron Variant
KAZN transcript variant X11	XM_017000769.3:c.280-1202… XM_017000769.3:c.280-120264C>G	N/A	Intron Variant
KAZN transcript variant X12	XM_017000770.3:c.280-1202… XM_017000770.3:c.280-120264C>G	N/A	Intron Variant
KAZN transcript variant X3	XM_011541075.3:c.	N/A	Genic Upstream Transcript Variant
KAZN transcript variant X7	XM_011541076.3:c.	N/A	Genic Upstream Transcript Variant
KAZN transcript variant X6	XM_011541077.3:c.	N/A	Genic Upstream Transcript Variant
KAZN transcript variant X13	XM_017000771.2:c.	N/A	Genic Upstream Transcript Variant
KAZN transcript variant X2	XM_047415845.1:c.	N/A	Genic Upstream Transcript Variant
KAZN transcript variant X5	XM_047415858.1:c.	N/A	Genic Upstream Transcript Variant
KAZN transcript variant X9	XM_047415868.1:c.	N/A	Genic Upstream Transcript Variant
KAZN transcript variant X14	XM_047415880.1:c.	N/A	Genic Upstream Transcript 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=	G	T
GRCh38.p14 chr 1	NC_000001.11:g.14478719=	NC_000001.11:g.14478719C>G	NC_000001.11:g.14478719C>T
GRCh37.p13 chr 1	NC_000001.10:g.14805215=	NC_000001.10:g.14805215C>G	NC_000001.10:g.14805215C>T
KAZN RefSeqGene	NG_029844.2:g.590334=	NG_029844.2:g.590334C>G	NG_029844.2:g.590334C>T
KAZN transcript variant X1	XM_005245795.1:c.280-120264=	XM_005245795.1:c.280-120264C>G	XM_005245795.1:c.280-120264C>T
KAZN transcript variant X4	XM_005245795.6:c.280-120264=	XM_005245795.6:c.280-120264C>G	XM_005245795.6:c.280-120264C>T
KAZN transcript variant X2	XM_005245796.1:c.280-120264=	XM_005245796.1:c.280-120264C>G	XM_005245796.1:c.280-120264C>T
KAZN transcript variant X1	XM_011541074.4:c.280-120264=	XM_011541074.4:c.280-120264C>G	XM_011541074.4:c.280-120264C>T
KAZN transcript variant X8	XM_011541080.4:c.280-120264=	XM_011541080.4:c.280-120264C>G	XM_011541080.4:c.280-120264C>T
KAZN transcript variant X10	XM_017000768.3:c.280-120264=	XM_017000768.3:c.280-120264C>G	XM_017000768.3:c.280-120264C>T
KAZN transcript variant X11	XM_017000769.3:c.280-120264=	XM_017000769.3:c.280-120264C>G	XM_017000769.3:c.280-120264C>T
KAZN transcript variant X12	XM_017000770.3:c.280-120264=	XM_017000770.3:c.280-120264C>G	XM_017000770.3:c.280-120264C>T

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#.

90 SubSNP, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss5823967	Feb 20, 2003 (111)
2	WI_SSAHASNP	ss11407004	Jul 11, 2003 (116)
3	SC_SNP	ss13019454	Dec 05, 2003 (119)
4	PERLEGEN	ss14881779	Dec 05, 2003 (119)
5	SC_SNP	ss15866340	Feb 27, 2004 (120)
6	PERLEGEN	ss23841899	Sep 20, 2004 (123)
7	ABI	ss44130100	Mar 15, 2006 (126)
8	KRIBB_YJKIM	ss65838542	Dec 02, 2006 (127)
9	AFFY	ss65919787	Dec 02, 2006 (127)
10	AFFY	ss66348944	Dec 02, 2006 (127)
11	AFFY	ss76059026	Dec 07, 2007 (129)
12	KRIBB_YJKIM	ss82027092	Dec 15, 2007 (130)
13	BGI	ss102721540	Dec 01, 2009 (131)
14	1000GENOMES	ss108006478	Jan 22, 2009 (130)
15	1000GENOMES	ss110084900	Jan 24, 2009 (130)
16	GMI	ss154664355	Dec 01, 2009 (131)
17	COMPLETE_GENOMICS	ss163099580	Jul 04, 2010 (132)
18	AFFY	ss172354613	Jul 04, 2010 (132)
19	BCM-HGSC-SUB	ss205194952	Jul 04, 2010 (132)
20	1000GENOMES	ss218247497	Jul 14, 2010 (132)
21	1000GENOMES	ss230434759	Jul 14, 2010 (132)
22	1000GENOMES	ss238148795	Jul 15, 2010 (132)
23	GMI	ss275723830	May 04, 2012 (137)
24	GMI	ss284004367	Apr 25, 2013 (138)
25	PJP	ss290627385	May 09, 2011 (134)
26	ILLUMINA	ss482096879	May 04, 2012 (137)
27	ILLUMINA	ss483368177	May 04, 2012 (137)
28	ILLUMINA	ss535581401	Sep 08, 2015 (146)
29	TISHKOFF	ss553819368	Apr 25, 2013 (138)
30	SSMP	ss647592379	Apr 25, 2013 (138)
31	ILLUMINA	ss780251075	Sep 08, 2015 (146)
32	ILLUMINA	ss782127254	Sep 08, 2015 (146)
33	ILLUMINA	ss835736736	Sep 08, 2015 (146)
34	EVA-GONL	ss974878538	Aug 21, 2014 (142)
35	JMKIDD_LAB	ss1067685743	Aug 21, 2014 (142)
36	1000GENOMES	ss1289772506	Aug 21, 2014 (142)
37	HAMMER_LAB	ss1397240177	Sep 08, 2015 (146)
38	DDI	ss1425720379	Apr 01, 2015 (144)
39	EVA_GENOME_DK	ss1573900557	Apr 01, 2015 (144)
40	EVA_DECODE	ss1584235934	Apr 01, 2015 (144)
41	EVA_UK10K_ALSPAC	ss1599591825	Apr 01, 2015 (144)
42	EVA_UK10K_TWINSUK	ss1642585858	Apr 01, 2015 (144)
43	EVA_SVP	ss1712312793	Apr 01, 2015 (144)
44	HAMMER_LAB	ss1793939249	Sep 08, 2015 (146)
45	WEILL_CORNELL_DGM	ss1918081573	Feb 12, 2016 (147)
46	GENOMED	ss1966689158	Jul 19, 2016 (147)
47	JJLAB	ss2019554355	Sep 14, 2016 (149)
48	USC_VALOUEV	ss2147552859	Dec 20, 2016 (150)
49	HUMAN_LONGEVITY	ss2160217855	Dec 20, 2016 (150)
50	SYSTEMSBIOZJU	ss2624293076	Nov 08, 2017 (151)
51	ILLUMINA	ss2632480451	Nov 08, 2017 (151)
52	GRF	ss2697453690	Nov 08, 2017 (151)
53	GNOMAD	ss2751892657	Nov 08, 2017 (151)
54	SWEGEN	ss2986344191	Nov 08, 2017 (151)
55	BIOINF_KMB_FNS_UNIBA	ss3023540861	Nov 08, 2017 (151)
56	CSHL	ss3343330017	Nov 08, 2017 (151)
57	ILLUMINA	ss3626031493	Oct 11, 2018 (152)
58	ILLUMINA	ss3630518650	Oct 11, 2018 (152)
59	ILLUMINA	ss3641573603	Oct 11, 2018 (152)
60	ILLUMINA	ss3653619921	Oct 11, 2018 (152)
61	EGCUT_WGS	ss3654431395	Jul 12, 2019 (153)
62	EVA_DECODE	ss3686210468	Jul 12, 2019 (153)
63	ACPOP	ss3726811089	Jul 12, 2019 (153)
64	EVA	ss3745857069	Jul 12, 2019 (153)
65	PACBIO	ss3783330441	Jul 12, 2019 (153)
66	PACBIO	ss3789003787	Jul 12, 2019 (153)
67	PACBIO	ss3793876502	Jul 12, 2019 (153)
68	KHV_HUMAN_GENOMES	ss3798878353	Jul 12, 2019 (153)
69	EVA	ss3826034572	Apr 25, 2020 (154)
70	EVA	ss3836404789	Apr 25, 2020 (154)
71	EVA	ss3841808918	Apr 25, 2020 (154)
72	SGDP_PRJ	ss3848256602	Apr 25, 2020 (154)
73	KRGDB	ss3893147822	Apr 25, 2020 (154)
74	KOGIC	ss3943879064	Apr 25, 2020 (154)
75	EVA	ss3984779899	Apr 25, 2021 (155)
76	TOPMED	ss4439978232	Apr 25, 2021 (155)
77	TOMMO_GENOMICS	ss5142598623	Apr 25, 2021 (155)
78	1000G_HIGH_COVERAGE	ss5241269312	Oct 17, 2022 (156)
79	EVA	ss5314594795	Oct 17, 2022 (156)
80	EVA	ss5316906669	Oct 17, 2022 (156)
81	HUGCELL_USP	ss5442452141	Oct 17, 2022 (156)
82	EVA	ss5505770751	Oct 17, 2022 (156)
83	1000G_HIGH_COVERAGE	ss5513067881	Oct 17, 2022 (156)
84	SANFORD_IMAGENETICS	ss5624977088	Oct 17, 2022 (156)
85	TOMMO_GENOMICS	ss5666943774	Oct 17, 2022 (156)
86	YY_MCH	ss5800348930	Oct 17, 2022 (156)
87	EVA	ss5831572026	Oct 17, 2022 (156)
88	EVA	ss5848793681	Oct 17, 2022 (156)
89	EVA	ss5907133171	Oct 17, 2022 (156)
90	EVA	ss5936796254	Oct 17, 2022 (156)
91	1000Genomes	NC_000001.10 - 14805215	Oct 11, 2018 (152)
92	1000Genomes_30x	NC_000001.11 - 14478719	Oct 17, 2022 (156)
93	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 14805215	Oct 11, 2018 (152)
94	Chileans	NC_000001.10 - 14805215	Apr 25, 2020 (154)
95	Genome-wide autozygosity in Daghestan	NC_000001.9 - 14677802	Apr 25, 2020 (154)
96	Genetic variation in the Estonian population	NC_000001.10 - 14805215	Oct 11, 2018 (152)
97	The Danish reference pan genome	NC_000001.10 - 14805215	Apr 25, 2020 (154)
98	gnomAD - Genomes	NC_000001.11 - 14478719	Apr 25, 2021 (155)
99	Genome of the Netherlands Release 5	NC_000001.10 - 14805215	Apr 25, 2020 (154)
100	KOREAN population from KRGDB	NC_000001.10 - 14805215	Apr 25, 2020 (154)
101	Korean Genome Project	NC_000001.11 - 14478719	Apr 25, 2020 (154)
102	Northern Sweden	NC_000001.10 - 14805215	Jul 12, 2019 (153)
103	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000001.10 - 14805215	Apr 25, 2021 (155)
104	Qatari	NC_000001.10 - 14805215	Apr 25, 2020 (154)
105	SGDP_PRJ	NC_000001.10 - 14805215	Apr 25, 2020 (154)
106	Siberian	NC_000001.10 - 14805215	Apr 25, 2020 (154)
107	8.3KJPN	NC_000001.10 - 14805215	Apr 25, 2021 (155)
108	14KJPN	NC_000001.11 - 14478719	Oct 17, 2022 (156)
109	TopMed	NC_000001.11 - 14478719	Apr 25, 2021 (155)
110	UK 10K study - Twins	NC_000001.10 - 14805215	Oct 11, 2018 (152)
111	A Vietnamese Genetic Variation Database	NC_000001.10 - 14805215	Jul 12, 2019 (153)
112	ALFA	NC_000001.11 - 14478719	Apr 25, 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)
rs58252970	Feb 25, 2009 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
325216, ss3893147822	NC_000001.10:14805214:C:G	NC_000001.11:14478718:C:G	(self)
7258130975	NC_000001.11:14478718:C:G	NC_000001.11:14478718:C:G	(self)
1655, ss108006478, ss110084900, ss163099580, ss205194952, ss275723830, ss284004367, ss290627385, ss482096879, ss1397240177, ss1584235934, ss1712312793	NC_000001.9:14677801:C:T	NC_000001.11:14478718:C:T	(self)
451555, 234863, 2170, 169643, 1398741, 101546, 325216, 95954, 5826, 123503, 273582, 69213, 567930, 234863, 49849, ss218247497, ss230434759, ss238148795, ss483368177, ss535581401, ss553819368, ss647592379, ss780251075, ss782127254, ss835736736, ss974878538, ss1067685743, ss1289772506, ss1425720379, ss1573900557, ss1599591825, ss1642585858, ss1793939249, ss1918081573, ss1966689158, ss2019554355, ss2147552859, ss2624293076, ss2632480451, ss2697453690, ss2751892657, ss2986344191, ss3343330017, ss3626031493, ss3630518650, ss3641573603, ss3653619921, ss3654431395, ss3726811089, ss3745857069, ss3783330441, ss3789003787, ss3793876502, ss3826034572, ss3836404789, ss3848256602, ss3893147822, ss3984779899, ss5142598623, ss5314594795, ss5316906669, ss5505770751, ss5624977088, ss5831572026, ss5936796254	NC_000001.10:14805214:C:T	NC_000001.11:14478718:C:T	(self)
593816, 3168789, 257065, 780878, 3584567, 7258130975, ss2160217855, ss3023540861, ss3686210468, ss3798878353, ss3841808918, ss3943879064, ss4439978232, ss5241269312, ss5442452141, ss5513067881, ss5666943774, ss5800348930, ss5848793681, ss5907133171	NC_000001.11:14478718:C:T	NC_000001.11:14478718:C:T	(self)
ss5823967, ss14881779, ss23841899, ss44130100, ss65838542, ss65919787, ss66348944, ss76059026, ss82027092, ss102721540, ss154664355, ss172354613	NT_004610.19:1485302:C:T	NC_000001.11:14478718:C:T	(self)
ss11407004, ss13019454	NT_004873.14:1182379:C:T	NC_000001.11:14478718:C:T	(self)
ss15866340	NT_004873.15:1182379:C:T	NC_000001.11:14478718: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 rs4369222

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.

Choose placement

dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs4369222