Name: rs555895
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.

rs555895

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr10:87961150 (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: T>G
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.413397 (109422/264690, TOPMED)
G=0.373306 (92706/248338, GnomAD_exome)
G=0.402324 (56294/139922, GnomAD) (+ 16 more)
G=0.369914 (43897/118668, ExAC)
T=0.48464 (13695/28258, 14KJPN)
G=0.36447 (10187/27950, ALFA)
T=0.47864 (8022/16760, 8.3KJPN)
G=0.37864 (4911/12970, GO-ESP)
G=0.4321 (2767/6404, 1000G_30x)
G=0.4325 (2166/5008, 1000G)
G=0.3009 (1348/4480, Estonian)
G=0.4567 (1338/2930, KOREAN)
G=0.4487 (822/1832, Korea1K)
G=0.341 (340/998, GoNL)
G=0.403 (242/600, NorthernSweden)
G=0.086 (46/534, MGP)
T=0.284 (112/394, SGDP_PRJ)
G=0.481 (104/216, Qatari)
T=0.42 (10/24, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: PTEN : Intron Variant
Publications: 6 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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	27950	T=0.63553	G=0.36447	0.411521	0.140465	0.448014	9
European	Sub	20396	T=0.66155	G=0.33845	0.444401	0.121298	0.434301	6
African	Sub	3554	T=0.5124	G=0.4876	0.266179	0.241418	0.492403	0
African Others	Sub	122	T=0.484	G=0.516	0.295082	0.327869	0.377049	2
African American	Sub	3432	T=0.5134	G=0.4866	0.265152	0.238345	0.496503	0
Asian	Sub	168	T=0.512	G=0.488	0.238095	0.214286	0.547619	0
East Asian	Sub	112	T=0.491	G=0.509	0.232143	0.25	0.517857	0
Other Asian	Sub	56	T=0.55	G=0.45	0.25	0.142857	0.607143	1
Latin American 1	Sub	146	T=0.568	G=0.432	0.287671	0.150685	0.561644	1
Latin American 2	Sub	610	T=0.556	G=0.444	0.308197	0.196721	0.495082	0
South Asian	Sub	98	T=0.68	G=0.32	0.44898	0.081633	0.469388	0
Other	Sub	2978	T=0.6293	G=0.3707	0.395567	0.137005	0.467428	0

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	T=0.586603	G=0.413397
gnomAD - Exomes	Global	Study-wide	248338	T=0.626694	G=0.373306
gnomAD - Exomes	European	Sub	133730	T=0.663359	G=0.336641
gnomAD - Exomes	Asian	Sub	48902	T=0.62382	G=0.37618
gnomAD - Exomes	American	Sub	34434	T=0.54257	G=0.45743
gnomAD - Exomes	African	Sub	15230	T=0.50190	G=0.49810
gnomAD - Exomes	Ashkenazi Jewish	Sub	10010	T=0.62867	G=0.37133
gnomAD - Exomes	Other	Sub	6032	T=0.6291	G=0.3709
gnomAD - Genomes	Global	Study-wide	139922	T=0.597676	G=0.402324
gnomAD - Genomes	European	Sub	75802	T=0.66381	G=0.33619
gnomAD - Genomes	African	Sub	41906	T=0.49988	G=0.50012
gnomAD - Genomes	American	Sub	13624	T=0.54888	G=0.45112
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	T=0.6257	G=0.3743
gnomAD - Genomes	East Asian	Sub	3126	T=0.4994	G=0.5006
gnomAD - Genomes	Other	Sub	2146	T=0.5811	G=0.4189
ExAC	Global	Study-wide	118668	T=0.630086	G=0.369914
ExAC	Europe	Sub	71810	T=0.66126	G=0.33874
ExAC	Asian	Sub	25032	T=0.62979	G=0.37021
ExAC	American	Sub	11444	T=0.54500	G=0.45500
ExAC	African	Sub	9490	T=0.4993	G=0.5007
ExAC	Other	Sub	892	T=0.612	G=0.388
14KJPN	JAPANESE	Study-wide	28258	T=0.48464	G=0.51536
Allele Frequency Aggregator	Total	Global	27950	T=0.63553	G=0.36447
Allele Frequency Aggregator	European	Sub	20396	T=0.66155	G=0.33845
Allele Frequency Aggregator	African	Sub	3554	T=0.5124	G=0.4876
Allele Frequency Aggregator	Other	Sub	2978	T=0.6293	G=0.3707
Allele Frequency Aggregator	Latin American 2	Sub	610	T=0.556	G=0.444
Allele Frequency Aggregator	Asian	Sub	168	T=0.512	G=0.488
Allele Frequency Aggregator	Latin American 1	Sub	146	T=0.568	G=0.432
Allele Frequency Aggregator	South Asian	Sub	98	T=0.68	G=0.32
8.3KJPN	JAPANESE	Study-wide	16760	T=0.47864	G=0.52136
GO Exome Sequencing Project	Global	Study-wide	12970	T=0.62136	G=0.37864
GO Exome Sequencing Project	European American	Sub	8584	T=0.6726	G=0.3274
GO Exome Sequencing Project	African American	Sub	4386	T=0.5210	G=0.4790
1000Genomes_30x	Global	Study-wide	6404	T=0.5679	G=0.4321
1000Genomes_30x	African	Sub	1786	T=0.4787	G=0.5213
1000Genomes_30x	Europe	Sub	1266	T=0.6335	G=0.3665
1000Genomes_30x	South Asian	Sub	1202	T=0.7088	G=0.2912
1000Genomes_30x	East Asian	Sub	1170	T=0.4966	G=0.5034
1000Genomes_30x	American	Sub	980	T=0.558	G=0.442
1000Genomes	Global	Study-wide	5008	T=0.5675	G=0.4325
1000Genomes	African	Sub	1322	T=0.4743	G=0.5257
1000Genomes	East Asian	Sub	1008	T=0.4960	G=0.5040
1000Genomes	Europe	Sub	1006	T=0.6292	G=0.3708
1000Genomes	South Asian	Sub	978	T=0.710	G=0.290
1000Genomes	American	Sub	694	T=0.559	G=0.441
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.6991	G=0.3009
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.5433	G=0.4567
Korean Genome Project	KOREAN	Study-wide	1832	T=0.5513	G=0.4487
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.659	G=0.341
Northern Sweden	ACPOP	Study-wide	600	T=0.597	G=0.403
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	T=0.914	G=0.086
SGDP_PRJ	Global	Study-wide	394	T=0.284	G=0.716
Qatari	Global	Study-wide	216	T=0.519	G=0.481
Siberian	Global	Study-wide	24	T=0.42	G=0.58

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 10	NC_000010.11:g.87961150T>G
GRCh37.p13 chr 10	NC_000010.10:g.89720907T>G
PTEN RefSeqGene (LRG_311)	NG_007466.2:g.102712T>G
GRCh38.p14 chr 10 fix patch HG2334_PATCH	NW_013171807.1:g.176939T>G

Gene: PTEN, phosphatase and tensin homolog (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PTEN transcript variant 1	NM_000314.8:c.1026+32T>G	N/A	Intron Variant
PTEN transcript variant 2	NM_001304717.5:c.1546+32T… NM_001304717.5:c.1546+32T>G	N/A	Intron Variant
PTEN transcript variant 3	NM_001304718.2:c.435+32T>G	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.

Allele: G (allele ID: 98717 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000078603.8	not specified	Benign
RCV000710294.6	PTEN hamartoma tumor syndrome	Benign
RCV001682759.4	not provided	Benign
RCV001789001.3	Cowden syndrome 1	Benign
RCV001789002.3	Macrocephaly-autism syndrome	Benign
RCV002256039.1	Hereditary cancer-predisposing syndrome	Benign

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=	G
GRCh38.p14 chr 10	NC_000010.11:g.87961150=	NC_000010.11:g.87961150T>G
GRCh37.p13 chr 10	NC_000010.10:g.89720907=	NC_000010.10:g.89720907T>G
PTEN RefSeqGene (LRG_311)	NG_007466.2:g.102712=	NG_007466.2:g.102712T>G
GRCh38.p14 chr 10 fix patch HG2334_PATCH	NW_013171807.1:g.176939=	NW_013171807.1:g.176939T>G
PTEN transcript	NM_000314.4:c.1026+32=	NM_000314.4:c.1026+32T>G
PTEN transcript variant 1	NM_000314.8:c.1026+32=	NM_000314.8:c.1026+32T>G
PTEN transcript variant 2	NM_001304717.5:c.1546+32=	NM_001304717.5:c.1546+32T>G
PTEN transcript variant 3	NM_001304718.2:c.435+32=	NM_001304718.2:c.435+32T>G

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#.

86 SubSNP, 19 Frequency, 6 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss726920	Aug 11, 2000 (83)
2	KWOK	ss1038069	Oct 04, 2000 (86)
3	WI_SSAHASNP	ss14421886	Dec 05, 2003 (119)
4	IMCJ-GDT	ss28503393	Sep 24, 2004 (126)
5	EGP_SNPS	ss38349835	Mar 11, 2006 (126)
6	ABI	ss39819690	Mar 11, 2006 (126)
7	SI_EXO	ss61707552	Oct 16, 2006 (127)
8	BCMHGSC_JDW	ss88301789	Mar 23, 2008 (129)
9	BGI	ss102899712	Dec 01, 2009 (131)
10	ILLUMINA-UK	ss119257676	Feb 15, 2009 (130)
11	GMI	ss155345523	Dec 01, 2009 (131)
12	ENSEMBL	ss161369396	Dec 01, 2009 (131)
13	COMPLETE_GENOMICS	ss170682315	Jul 04, 2010 (132)
14	COMPLETE_GENOMICS	ss174678699	Jul 04, 2010 (132)
15	BUSHMAN	ss201828340	Jul 04, 2010 (132)
16	1000GENOMES	ss224860489	Jul 14, 2010 (132)
17	1000GENOMES	ss235274496	Jul 15, 2010 (132)
18	1000GENOMES	ss241961752	Jul 15, 2010 (132)
19	BL	ss254496985	May 09, 2011 (134)
20	GMI	ss280714853	May 04, 2012 (137)
21	GMI	ss286235662	Apr 25, 2013 (138)
22	PJP	ss290890284	May 09, 2011 (134)
23	ILLUMINA	ss535728623	Sep 08, 2015 (146)
24	TISHKOFF	ss562115210	Apr 25, 2013 (138)
25	SSMP	ss657123241	Apr 25, 2013 (138)
26	NHLBI-ESP	ss712956823	Apr 25, 2013 (138)
27	EVA-GONL	ss987754561	Aug 21, 2014 (142)
28	1000GENOMES	ss1338439511	Aug 21, 2014 (142)
29	DDI	ss1426397486	Apr 01, 2015 (144)
30	EVA_EXAC	ss1689987395	Apr 01, 2015 (144)
31	EVA_MGP	ss1711264006	Apr 01, 2015 (144)
32	HAMMER_LAB	ss1806500742	Sep 08, 2015 (146)
33	WEILL_CORNELL_DGM	ss1931122841	Feb 12, 2016 (147)
34	GENOMED	ss1967189165	Jul 19, 2016 (147)
35	ILLUMINA	ss2095015806	Dec 20, 2016 (150)
36	USC_VALOUEV	ss2154564557	Dec 20, 2016 (150)
37	HUMAN_LONGEVITY	ss2176768527	Dec 20, 2016 (150)
38	SYSTEMSBIOZJU	ss2627613665	Nov 08, 2017 (151)
39	GRF	ss2698815874	Nov 08, 2017 (151)
40	GNOMAD	ss2738382764	Nov 08, 2017 (151)
41	GNOMAD	ss2748430680	Nov 08, 2017 (151)
42	GNOMAD	ss2891608120	Nov 08, 2017 (151)
43	SWEGEN	ss3006889924	Nov 08, 2017 (151)
44	CSHL	ss3349240473	Nov 08, 2017 (151)
45	ILLUMINA	ss3626499444	Oct 12, 2018 (152)
46	OMUKHERJEE_ADBS	ss3646412920	Oct 12, 2018 (152)
47	ILLUMINA	ss3651618574	Oct 12, 2018 (152)
48	EGCUT_WGS	ss3674299694	Jul 13, 2019 (153)
49	ACPOP	ss3737543936	Jul 13, 2019 (153)
50	EVA	ss3748412255	Jul 13, 2019 (153)
51	PACBIO	ss3786744149	Jul 13, 2019 (153)
52	PACBIO	ss3791913893	Jul 13, 2019 (153)
53	PACBIO	ss3796796000	Jul 13, 2019 (153)
54	KHV_HUMAN_GENOMES	ss3813779671	Jul 13, 2019 (153)
55	EVA	ss3824535897	Apr 26, 2020 (154)
56	EVA	ss3825779610	Apr 26, 2020 (154)
57	EVA	ss3839667021	Apr 26, 2020 (154)
58	EVA	ss3845140439	Apr 26, 2020 (154)
59	SGDP_PRJ	ss3874733698	Apr 26, 2020 (154)
60	KRGDB	ss3922849605	Apr 26, 2020 (154)
61	KOGIC	ss3968370635	Apr 26, 2020 (154)
62	FSA-LAB	ss3983982138	Apr 26, 2021 (155)
63	EVA	ss3986491386	Apr 26, 2021 (155)
64	TOPMED	ss4861021024	Apr 26, 2021 (155)
65	TOMMO_GENOMICS	ss5198762857	Apr 26, 2021 (155)
66	CPQ_GEN_INCA	ss5236853640	Apr 26, 2021 (155)
67	CPQ_GEN_INCA	ss5236856095	Apr 26, 2021 (155)
68	CPQ_GEN_INCA	ss5236856096	Apr 26, 2021 (155)
69	CPQ_GEN_INCA	ss5236856097	Apr 26, 2021 (155)
70	EVA	ss5237209781	Apr 26, 2021 (155)
71	1000G_HIGH_COVERAGE	ss5284928941	Oct 16, 2022 (156)
72	EVA	ss5395036027	Oct 16, 2022 (156)
73	EVA	ss5510113127	Oct 16, 2022 (156)
74	1000G_HIGH_COVERAGE	ss5579324693	Oct 16, 2022 (156)
75	EVA	ss5623949896	Oct 16, 2022 (156)
76	EVA	ss5624010884	Oct 16, 2022 (156)
77	SANFORD_IMAGENETICS	ss5649795860	Oct 16, 2022 (156)
78	TOMMO_GENOMICS	ss5744919209	Oct 16, 2022 (156)
79	EVA	ss5800061949	Oct 16, 2022 (156)
80	EVA	ss5800160752	Oct 16, 2022 (156)
81	YY_MCH	ss5811752951	Oct 16, 2022 (156)
82	EVA	ss5824744269	Oct 16, 2022 (156)
83	EVA	ss5848303100	Oct 16, 2022 (156)
84	EVA	ss5879900057	Oct 16, 2022 (156)
85	EVA	ss5941076835	Oct 16, 2022 (156)
86	EVA	ss5980628634	Oct 16, 2022 (156)
87	1000Genomes	NC_000010.10 - 89720907	Oct 12, 2018 (152)
88	1000Genomes_30x	NC_000010.11 - 87961150	Oct 16, 2022 (156)
89	Genetic variation in the Estonian population	NC_000010.10 - 89720907	Oct 12, 2018 (152)
90	ExAC	NC_000010.10 - 89720907	Oct 12, 2018 (152)
91	gnomAD - Genomes	NC_000010.11 - 87961150	Apr 26, 2021 (155)
92	gnomAD - Exomes	NC_000010.10 - 89720907	Jul 13, 2019 (153)
93	GO Exome Sequencing Project	NC_000010.10 - 89720907	Oct 12, 2018 (152)
94	Genome of the Netherlands Release 5	NC_000010.10 - 89720907	Apr 26, 2020 (154)
95	KOREAN population from KRGDB	NC_000010.10 - 89720907	Apr 26, 2020 (154)
96	Korean Genome Project	NC_000010.11 - 87961150	Apr 26, 2020 (154)
97	Medical Genome Project healthy controls from Spanish population	NC_000010.10 - 89720907	Apr 26, 2020 (154)
98	Northern Sweden	NC_000010.10 - 89720907	Jul 13, 2019 (153)
99	Qatari	NC_000010.10 - 89720907	Apr 26, 2020 (154)
100	SGDP_PRJ	NC_000010.10 - 89720907	Apr 26, 2020 (154)
101	Siberian	NC_000010.10 - 89720907	Apr 26, 2020 (154)
102	8.3KJPN	NC_000010.10 - 89720907	Apr 26, 2021 (155)
103	14KJPN	NC_000010.11 - 87961150	Oct 16, 2022 (156)
104	TopMed	NC_000010.11 - 87961150	Apr 26, 2021 (155)
105	ALFA	NC_000010.11 - 87961150	Apr 26, 2021 (155)
106	ClinVar	RCV000078603.8	Oct 16, 2022 (156)
107	ClinVar	RCV000710294.6	Oct 16, 2022 (156)
108	ClinVar	RCV001682759.4	Oct 16, 2022 (156)
109	ClinVar	RCV001789001.3	Oct 16, 2022 (156)
110	ClinVar	RCV001789002.3	Oct 16, 2022 (156)
111	ClinVar	RCV002256039.1	Oct 16, 2022 (156)

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)
rs17849091	Mar 11, 2006 (126)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss88301789, ss119257676, ss170682315, ss174678699, ss201828340, ss254496985, ss280714853, ss286235662, ss290890284	NC_000010.9:89710886:T:G	NC_000010.11:87961149:T:G	(self)
50863932, 20037942, 214825, 7581679, 993583, 12590557, 30026999, 379766, 10828801, 13164771, 26750678, 7080911, 56732164, ss224860489, ss235274496, ss241961752, ss535728623, ss562115210, ss657123241, ss712956823, ss987754561, ss1338439511, ss1426397486, ss1689987395, ss1711264006, ss1806500742, ss1931122841, ss1967189165, ss2095015806, ss2154564557, ss2627613665, ss2698815874, ss2738382764, ss2748430680, ss2891608120, ss3006889924, ss3349240473, ss3626499444, ss3646412920, ss3651618574, ss3674299694, ss3737543936, ss3748412255, ss3786744149, ss3791913893, ss3796796000, ss3824535897, ss3825779610, ss3839667021, ss3874733698, ss3922849605, ss3983982138, ss3986491386, ss5198762857, ss5236853640, ss5236856095, ss5236856096, ss5236856097, ss5395036027, ss5510113127, ss5623949896, ss5624010884, ss5649795860, ss5800061949, ss5800160752, ss5824744269, ss5848303100, ss5941076835, ss5980628634	NC_000010.10:89720906:T:G	NC_000010.11:87961149:T:G	(self)
RCV000078603.8, RCV000710294.6, RCV001682759.4, RCV001789001.3, RCV001789002.3, RCV002256039.1, 66850628, 359401252, 24748636, 78756313, 76566679, 773639062, ss2176768527, ss3813779671, ss3845140439, ss3968370635, ss4861021024, ss5237209781, ss5284928941, ss5579324693, ss5744919209, ss5811752951, ss5879900057	NC_000010.11:87961149:T:G	NC_000010.11:87961149:T:G	(self)
ss61707552	NT_030059.12:8469422:T:G	NC_000010.11:87961149:T:G	(self)
ss726920, ss1038069, ss14421886, ss28503393, ss38349835, ss39819690, ss102899712, ss155345523, ss161369396	NT_030059.13:40525370:T:G	NC_000010.11:87961149:T:G	(self)

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

6 citations for rs555895

PMID	Title	Author	Year	Journal
17033968	Mutation-positive and mutation-negative patients with Cowden and Bannayan-Riley-Ruvalcaba syndromes associated with distinct 10q haplotypes.	Pezzolesi MG et al.	2006	American journal of human genetics
18805939	Functional genetic polymorphisms and female reproductive disorders: part II--endometriosis.	Tempfer CB et al.	2009	Human reproduction update
23068025	Association of PTEN genetic polymorphisms with atherosclerotic cerebral infarction in the Han Chinese population.	Yuan M et al.	2012	Journal of clinical neuroscience
23757202	Free the data: one laboratory's approach to knowledge-based genomic variant classification and preparation for EMR integration of genomic data.	Bean LJ et al.	2013	Human mutation
25741868	Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.	Richards S et al.	2015	Genetics in medicine
26541596	Association of genetic polymorphisms in PTEN and additional gene-gene interaction with risk of esophageal squamous cell carcinoma in Chinese Han population.	Xu X et al.	2016	Diseases of the esophagus

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

rs555895