Name: rs3995730
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.

rs3995730

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr11:94049619-94049634 (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: delAA / delA / dupA / dupAA / dupA…
delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₅ / dup(A)₆ / dup(A)₇
Variation Type: Indel Insertion and Deletion
Frequency: (A)₁₆=0.1502 (752/5008, 1000G)
dup(A)₄=0.3874 (1665/4298, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: HEPHL1 : 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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	4298	AAAAAAAAAAAAAAAA=0.0105	AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0009, AAAAAAAAAAAAAAAAAA=0.4504, AAAAAAAAAAAAAAAAAAA=0.1445, AAAAAAAAAAAAAAAAAAAA=0.3874, AAAAAAAAAAAAAAAAAAAAA=0.0063, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000	0.33121	0.261146	0.407643	27
European	Sub	4272	AAAAAAAAAAAAAAAA=0.0059	AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0009, AAAAAAAAAAAAAAAAAA=0.4532, AAAAAAAAAAAAAAAAAAA=0.1449, AAAAAAAAAAAAAAAAAAAA=0.3888, AAAAAAAAAAAAAAAAAAAAA=0.0063, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000	0.331421	0.260676	0.407903	27
African	Sub	18	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00	0	0	0	N/A
African Others	Sub	2	AAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0	0	0	0	N/A
African American	Sub	16	AAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00	0	0	0	N/A
Asian	Sub	0	AAAAAAAAAAAAAAAA=0	AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
East Asian	Sub	0	AAAAAAAAAAAAAAAA=0	AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other Asian	Sub	0	AAAAAAAAAAAAAAAA=0	AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 1	Sub	0	AAAAAAAAAAAAAAAA=0	AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 2	Sub	0	AAAAAAAAAAAAAAAA=0	AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
South Asian	Sub	0	AAAAAAAAAAAAAAAA=0	AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other	Sub	8	AAAAAAAAAAAAAAAA=0.2	AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.2, AAAAAAAAAAAAAAAAAAAA=0.5, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0	0.0	1.0	0.0	N/A

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
1000Genomes	Global	Study-wide	5008	- No frequency provided	dupAA=0.8498
1000Genomes	African	Sub	1322	- No frequency provided	dupAA=0.6732
1000Genomes	East Asian	Sub	1008	- No frequency provided	dupAA=0.9206
1000Genomes	Europe	Sub	1006	- No frequency provided	dupAA=0.9135
1000Genomes	South Asian	Sub	978	- No frequency provided	dupAA=0.915
1000Genomes	American	Sub	694	- No frequency provided	dupAA=0.899
Allele Frequency Aggregator	Total	Global	4298	(A)₁₆=0.0105	delAA=0.0000, delA=0.0000, dupA=0.0009, dupAA=0.4504, dupAAA=0.1445, dup(A)₄=0.3874, dup(A)₅=0.0063, dup(A)₆=0.0000, dup(A)₇=0.0000
Allele Frequency Aggregator	European	Sub	4272	(A)₁₆=0.0059	delAA=0.0000, delA=0.0000, dupA=0.0009, dupAA=0.4532, dupAAA=0.1449, dup(A)₄=0.3888, dup(A)₅=0.0063, dup(A)₆=0.0000, dup(A)₇=0.0000
Allele Frequency Aggregator	African	Sub	18	(A)₁₆=1.00	delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00, dup(A)₆=0.00, dup(A)₇=0.00
Allele Frequency Aggregator	Other	Sub	8	(A)₁₆=0.2	delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.2, dup(A)₄=0.5, dup(A)₅=0.0, dup(A)₆=0.0, dup(A)₇=0.0
Allele Frequency Aggregator	Latin American 1	Sub	0	(A)₁₆=0	delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0, dup(A)₄=0, dup(A)₅=0, dup(A)₆=0, dup(A)₇=0
Allele Frequency Aggregator	Latin American 2	Sub	0	(A)₁₆=0	delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0, dup(A)₄=0, dup(A)₅=0, dup(A)₆=0, dup(A)₇=0
Allele Frequency Aggregator	South Asian	Sub	0	(A)₁₆=0	delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0, dup(A)₄=0, dup(A)₅=0, dup(A)₆=0, dup(A)₇=0
Allele Frequency Aggregator	Asian	Sub	0	(A)₁₆=0	delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0, dup(A)₄=0, dup(A)₅=0, dup(A)₆=0, dup(A)₇=0

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 11	NC_000011.10:g.94049633_94049634del
GRCh38.p14 chr 11	NC_000011.10:g.94049634del
GRCh38.p14 chr 11	NC_000011.10:g.94049634dup
GRCh38.p14 chr 11	NC_000011.10:g.94049633_94049634dup
GRCh38.p14 chr 11	NC_000011.10:g.94049632_94049634dup
GRCh38.p14 chr 11	NC_000011.10:g.94049631_94049634dup
GRCh38.p14 chr 11	NC_000011.10:g.94049630_94049634dup
GRCh38.p14 chr 11	NC_000011.10:g.94049629_94049634dup
GRCh38.p14 chr 11	NC_000011.10:g.94049628_94049634dup
GRCh37.p13 chr 11	NC_000011.9:g.93782799_93782800del
GRCh37.p13 chr 11	NC_000011.9:g.93782800del
GRCh37.p13 chr 11	NC_000011.9:g.93782800dup
GRCh37.p13 chr 11	NC_000011.9:g.93782799_93782800dup
GRCh37.p13 chr 11	NC_000011.9:g.93782798_93782800dup
GRCh37.p13 chr 11	NC_000011.9:g.93782797_93782800dup
GRCh37.p13 chr 11	NC_000011.9:g.93782796_93782800dup
GRCh37.p13 chr 11	NC_000011.9:g.93782795_93782800dup
GRCh37.p13 chr 11	NC_000011.9:g.93782794_93782800dup

Gene: HEPHL1, hephaestin like 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
HEPHL1 transcript	NM_001098672.2:c.415+3716… NM_001098672.2:c.415+3716_415+3717del	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	(A)₁₆=	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅	dup(A)₆	dup(A)₇
GRCh38.p14 chr 11	NC_000011.10:g.94049619_94049634=	NC_000011.10:g.94049633_94049634del	NC_000011.10:g.94049634del	NC_000011.10:g.94049634dup	NC_000011.10:g.94049633_94049634dup	NC_000011.10:g.94049632_94049634dup	NC_000011.10:g.94049631_94049634dup	NC_000011.10:g.94049630_94049634dup	NC_000011.10:g.94049629_94049634dup	NC_000011.10:g.94049628_94049634dup
GRCh37.p13 chr 11	NC_000011.9:g.93782785_93782800=	NC_000011.9:g.93782799_93782800del	NC_000011.9:g.93782800del	NC_000011.9:g.93782800dup	NC_000011.9:g.93782799_93782800dup	NC_000011.9:g.93782798_93782800dup	NC_000011.9:g.93782797_93782800dup	NC_000011.9:g.93782796_93782800dup	NC_000011.9:g.93782795_93782800dup	NC_000011.9:g.93782794_93782800dup
HEPHL1 transcript	NM_001098672.1:c.415+3702=	NM_001098672.1:c.415+3716_415+3717del	NM_001098672.1:c.415+3717del	NM_001098672.1:c.415+3717dup	NM_001098672.1:c.415+3716_415+3717dup	NM_001098672.1:c.415+3715_415+3717dup	NM_001098672.1:c.415+3714_415+3717dup	NM_001098672.1:c.415+3713_415+3717dup	NM_001098672.1:c.415+3712_415+3717dup	NM_001098672.1:c.415+3711_415+3717dup
HEPHL1 transcript	NM_001098672.2:c.415+3702=	NM_001098672.2:c.415+3716_415+3717del	NM_001098672.2:c.415+3717del	NM_001098672.2:c.415+3717dup	NM_001098672.2:c.415+3716_415+3717dup	NM_001098672.2:c.415+3715_415+3717dup	NM_001098672.2:c.415+3714_415+3717dup	NM_001098672.2:c.415+3713_415+3717dup	NM_001098672.2:c.415+3712_415+3717dup	NM_001098672.2:c.415+3711_415+3717dup

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#.

80 SubSNP, 38 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	TSC-CSHL	ss5316288	Oct 10, 2002 (108)
2	ABI	ss39933648	Mar 15, 2006 (126)
3	ABI	ss39941313	Mar 14, 2006 (126)
4	HUMANGENOME_JCVI	ss95576629	Feb 06, 2009 (130)
5	HUMANGENOME_JCVI	ss95960213	Feb 06, 2009 (130)
6	GMI	ss289088423	Sep 14, 2016 (149)
7	PJP	ss294716300	Oct 12, 2018 (152)
8	BILGI_BIOE	ss666544972	Apr 25, 2013 (138)
9	1000GENOMES	ss1371346629	Aug 21, 2014 (142)
10	EVA_UK10K_ALSPAC	ss1707209042	Apr 01, 2015 (144)
11	EVA_UK10K_ALSPAC	ss1707209044	Apr 01, 2015 (144)
12	EVA_UK10K_ALSPAC	ss1707209045	Apr 01, 2015 (144)
13	EVA_UK10K_TWINSUK	ss1707209433	Apr 01, 2015 (144)
14	EVA_UK10K_TWINSUK	ss1707209436	Apr 01, 2015 (144)
15	EVA_UK10K_TWINSUK	ss1707209440	Apr 01, 2015 (144)
16	SWEGEN	ss3008576568	Nov 08, 2017 (151)
17	SWEGEN	ss3008576569	Nov 08, 2017 (151)
18	SWEGEN	ss3008576570	Nov 08, 2017 (151)
19	SWEGEN	ss3008576571	Nov 08, 2017 (151)
20	SWEGEN	ss3008576572	Nov 08, 2017 (151)
21	SWEGEN	ss3008576573	Nov 08, 2017 (151)
22	MCHAISSO	ss3063702556	Nov 08, 2017 (151)
23	MCHAISSO	ss3065442972	Nov 08, 2017 (151)
24	EVA_DECODE	ss3692358958	Jul 13, 2019 (153)
25	EVA_DECODE	ss3692358959	Jul 13, 2019 (153)
26	EVA_DECODE	ss3692358960	Jul 13, 2019 (153)
27	EVA_DECODE	ss3692358961	Jul 13, 2019 (153)
28	EVA_DECODE	ss3692358962	Jul 13, 2019 (153)
29	ACPOP	ss3738429134	Jul 13, 2019 (153)
30	ACPOP	ss3738429135	Jul 13, 2019 (153)
31	ACPOP	ss3738429136	Jul 13, 2019 (153)
32	ACPOP	ss3738429137	Jul 13, 2019 (153)
33	ACPOP	ss3738429138	Jul 13, 2019 (153)
34	PACBIO	ss3787030599	Jul 13, 2019 (153)
35	PACBIO	ss3792159664	Jul 13, 2019 (153)
36	PACBIO	ss3792159665	Jul 13, 2019 (153)
37	PACBIO	ss3797042081	Jul 13, 2019 (153)
38	PACBIO	ss3797042082	Jul 13, 2019 (153)
39	KHV_HUMAN_GENOMES	ss3814990264	Jul 13, 2019 (153)
40	EVA	ss3832772419	Apr 26, 2020 (154)
41	EVA	ss3845426643	Apr 26, 2020 (154)
42	KOGIC	ss3970513339	Apr 26, 2020 (154)
43	KOGIC	ss3970513340	Apr 26, 2020 (154)
44	KOGIC	ss3970513341	Apr 26, 2020 (154)
45	KOGIC	ss3970513342	Apr 26, 2020 (154)
46	KOGIC	ss3970513343	Apr 26, 2020 (154)
47	GNOMAD	ss4240323023	Apr 26, 2021 (155)
48	GNOMAD	ss4240323024	Apr 26, 2021 (155)
49	GNOMAD	ss4240323025	Apr 26, 2021 (155)
50	GNOMAD	ss4240323026	Apr 26, 2021 (155)
51	GNOMAD	ss4240323027	Apr 26, 2021 (155)
52	GNOMAD	ss4240323028	Apr 26, 2021 (155)
53	GNOMAD	ss4240323031	Apr 26, 2021 (155)
54	GNOMAD	ss4240323032	Apr 26, 2021 (155)
55	TOMMO_GENOMICS	ss5203338101	Apr 26, 2021 (155)
56	TOMMO_GENOMICS	ss5203338102	Apr 26, 2021 (155)
57	TOMMO_GENOMICS	ss5203338103	Apr 26, 2021 (155)
58	TOMMO_GENOMICS	ss5203338104	Apr 26, 2021 (155)
59	TOMMO_GENOMICS	ss5203338105	Apr 26, 2021 (155)
60	TOMMO_GENOMICS	ss5203338106	Apr 26, 2021 (155)
61	1000G_HIGH_COVERAGE	ss5288465500	Oct 16, 2022 (156)
62	1000G_HIGH_COVERAGE	ss5288465501	Oct 16, 2022 (156)
63	1000G_HIGH_COVERAGE	ss5288465502	Oct 16, 2022 (156)
64	1000G_HIGH_COVERAGE	ss5288465503	Oct 16, 2022 (156)
65	1000G_HIGH_COVERAGE	ss5288465504	Oct 16, 2022 (156)
66	1000G_HIGH_COVERAGE	ss5288465505	Oct 16, 2022 (156)
67	HUGCELL_USP	ss5483502980	Oct 16, 2022 (156)
68	HUGCELL_USP	ss5483502981	Oct 16, 2022 (156)
69	HUGCELL_USP	ss5483502982	Oct 16, 2022 (156)
70	HUGCELL_USP	ss5483502983	Oct 16, 2022 (156)
71	TOMMO_GENOMICS	ss5751628564	Oct 16, 2022 (156)
72	TOMMO_GENOMICS	ss5751628565	Oct 16, 2022 (156)
73	TOMMO_GENOMICS	ss5751628566	Oct 16, 2022 (156)
74	TOMMO_GENOMICS	ss5751628567	Oct 16, 2022 (156)
75	TOMMO_GENOMICS	ss5751628568	Oct 16, 2022 (156)
76	TOMMO_GENOMICS	ss5751628569	Oct 16, 2022 (156)
77	EVA	ss5837055746	Oct 16, 2022 (156)
78	EVA	ss5837055747	Oct 16, 2022 (156)
79	EVA	ss5837055748	Oct 16, 2022 (156)
80	EVA	ss5921152995	Oct 16, 2022 (156)
81	1000Genomes	NC_000011.9 - 93782785	Oct 12, 2018 (152)
82	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 30538290 (NC_000011.9:93782784::AA 1781/3854) Row 30538291 (NC_000011.9:93782784::AAAA 1043/3854) Row 30538292 (NC_000011.9:93782784::AAA 1030/3854)	-	Oct 12, 2018 (152)
83	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 30538290 (NC_000011.9:93782784::AA 1781/3854) Row 30538291 (NC_000011.9:93782784::AAAA 1043/3854) Row 30538292 (NC_000011.9:93782784::AAA 1030/3854)	-	Oct 12, 2018 (152)
84	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 30538290 (NC_000011.9:93782784::AA 1781/3854) Row 30538291 (NC_000011.9:93782784::AAAA 1043/3854) Row 30538292 (NC_000011.9:93782784::AAA 1030/3854)	-	Oct 12, 2018 (152)
85	gnomAD - Genomes Submission ignored due to conflicting rows: Row 388355284 (NC_000011.10:94049618::A 5902/127194) Row 388355285 (NC_000011.10:94049618::AA 53053/127112) Row 388355286 (NC_000011.10:94049618::AAA 21382/127146)...	-	Apr 26, 2021 (155)
86	gnomAD - Genomes Submission ignored due to conflicting rows: Row 388355284 (NC_000011.10:94049618::A 5902/127194) Row 388355285 (NC_000011.10:94049618::AA 53053/127112) Row 388355286 (NC_000011.10:94049618::AAA 21382/127146)...	-	Apr 26, 2021 (155)
87	gnomAD - Genomes Submission ignored due to conflicting rows: Row 388355284 (NC_000011.10:94049618::A 5902/127194) Row 388355285 (NC_000011.10:94049618::AA 53053/127112) Row 388355286 (NC_000011.10:94049618::AAA 21382/127146)...	-	Apr 26, 2021 (155)
88	gnomAD - Genomes Submission ignored due to conflicting rows: Row 388355284 (NC_000011.10:94049618::A 5902/127194) Row 388355285 (NC_000011.10:94049618::AA 53053/127112) Row 388355286 (NC_000011.10:94049618::AAA 21382/127146)...	-	Apr 26, 2021 (155)
89	gnomAD - Genomes Submission ignored due to conflicting rows: Row 388355284 (NC_000011.10:94049618::A 5902/127194) Row 388355285 (NC_000011.10:94049618::AA 53053/127112) Row 388355286 (NC_000011.10:94049618::AAA 21382/127146)...	-	Apr 26, 2021 (155)
90	gnomAD - Genomes Submission ignored due to conflicting rows: Row 388355284 (NC_000011.10:94049618::A 5902/127194) Row 388355285 (NC_000011.10:94049618::AA 53053/127112) Row 388355286 (NC_000011.10:94049618::AAA 21382/127146)...	-	Apr 26, 2021 (155)
91	gnomAD - Genomes Submission ignored due to conflicting rows: Row 388355284 (NC_000011.10:94049618::A 5902/127194) Row 388355285 (NC_000011.10:94049618::AA 53053/127112) Row 388355286 (NC_000011.10:94049618::AAA 21382/127146)...	-	Apr 26, 2021 (155)
92	gnomAD - Genomes Submission ignored due to conflicting rows: Row 388355284 (NC_000011.10:94049618::A 5902/127194) Row 388355285 (NC_000011.10:94049618::AA 53053/127112) Row 388355286 (NC_000011.10:94049618::AAA 21382/127146)...	-	Apr 26, 2021 (155)
93	Korean Genome Project Submission ignored due to conflicting rows: Row 26891340 (NC_000011.10:94049618::A 158/1826) Row 26891341 (NC_000011.10:94049618::AA 782/1826) Row 26891342 (NC_000011.10:94049618::AAA 251/1826)...	-	Apr 26, 2020 (154)
94	Korean Genome Project Submission ignored due to conflicting rows: Row 26891340 (NC_000011.10:94049618::A 158/1826) Row 26891341 (NC_000011.10:94049618::AA 782/1826) Row 26891342 (NC_000011.10:94049618::AAA 251/1826)...	-	Apr 26, 2020 (154)
95	Korean Genome Project Submission ignored due to conflicting rows: Row 26891340 (NC_000011.10:94049618::A 158/1826) Row 26891341 (NC_000011.10:94049618::AA 782/1826) Row 26891342 (NC_000011.10:94049618::AAA 251/1826)...	-	Apr 26, 2020 (154)
96	Korean Genome Project Submission ignored due to conflicting rows: Row 26891340 (NC_000011.10:94049618::A 158/1826) Row 26891341 (NC_000011.10:94049618::AA 782/1826) Row 26891342 (NC_000011.10:94049618::AAA 251/1826)...	-	Apr 26, 2020 (154)
97	Korean Genome Project Submission ignored due to conflicting rows: Row 26891340 (NC_000011.10:94049618::A 158/1826) Row 26891341 (NC_000011.10:94049618::AA 782/1826) Row 26891342 (NC_000011.10:94049618::AAA 251/1826)...	-	Apr 26, 2020 (154)
98	Northern Sweden Submission ignored due to conflicting rows: Row 11713999 (NC_000011.9:93782784::AA 279/592) Row 11714000 (NC_000011.9:93782784::AAAA 217/592) Row 11714001 (NC_000011.9:93782784::AAA 78/592)...	-	Jul 13, 2019 (153)
99	Northern Sweden Submission ignored due to conflicting rows: Row 11713999 (NC_000011.9:93782784::AA 279/592) Row 11714000 (NC_000011.9:93782784::AAAA 217/592) Row 11714001 (NC_000011.9:93782784::AAA 78/592)...	-	Jul 13, 2019 (153)
100	Northern Sweden Submission ignored due to conflicting rows: Row 11713999 (NC_000011.9:93782784::AA 279/592) Row 11714000 (NC_000011.9:93782784::AAAA 217/592) Row 11714001 (NC_000011.9:93782784::AAA 78/592)...	-	Jul 13, 2019 (153)
101	Northern Sweden Submission ignored due to conflicting rows: Row 11713999 (NC_000011.9:93782784::AA 279/592) Row 11714000 (NC_000011.9:93782784::AAAA 217/592) Row 11714001 (NC_000011.9:93782784::AAA 78/592)...	-	Jul 13, 2019 (153)
102	Northern Sweden Submission ignored due to conflicting rows: Row 11713999 (NC_000011.9:93782784::AA 279/592) Row 11714000 (NC_000011.9:93782784::AAAA 217/592) Row 11714001 (NC_000011.9:93782784::AAA 78/592)...	-	Jul 13, 2019 (153)
103	8.3KJPN Submission ignored due to conflicting rows: Row 61307408 (NC_000011.9:93782784::AA 8665/16724) Row 61307409 (NC_000011.9:93782784::AAA 1508/16724) Row 61307410 (NC_000011.9:93782784::A 166/16724)...	-	Apr 26, 2021 (155)
104	8.3KJPN Submission ignored due to conflicting rows: Row 61307408 (NC_000011.9:93782784::AA 8665/16724) Row 61307409 (NC_000011.9:93782784::AAA 1508/16724) Row 61307410 (NC_000011.9:93782784::A 166/16724)...	-	Apr 26, 2021 (155)
105	8.3KJPN Submission ignored due to conflicting rows: Row 61307408 (NC_000011.9:93782784::AA 8665/16724) Row 61307409 (NC_000011.9:93782784::AAA 1508/16724) Row 61307410 (NC_000011.9:93782784::A 166/16724)...	-	Apr 26, 2021 (155)
106	8.3KJPN Submission ignored due to conflicting rows: Row 61307408 (NC_000011.9:93782784::AA 8665/16724) Row 61307409 (NC_000011.9:93782784::AAA 1508/16724) Row 61307410 (NC_000011.9:93782784::A 166/16724)...	-	Apr 26, 2021 (155)
107	8.3KJPN Submission ignored due to conflicting rows: Row 61307408 (NC_000011.9:93782784::AA 8665/16724) Row 61307409 (NC_000011.9:93782784::AAA 1508/16724) Row 61307410 (NC_000011.9:93782784::A 166/16724)...	-	Apr 26, 2021 (155)
108	8.3KJPN Submission ignored due to conflicting rows: Row 61307408 (NC_000011.9:93782784::AA 8665/16724) Row 61307409 (NC_000011.9:93782784::AAA 1508/16724) Row 61307410 (NC_000011.9:93782784::A 166/16724)...	-	Apr 26, 2021 (155)
109	14KJPN Submission ignored due to conflicting rows: Row 85465668 (NC_000011.10:94049618::AA 14610/28256) Row 85465669 (NC_000011.10:94049618::AAAA 9747/28256) Row 85465670 (NC_000011.10:94049618::A 259/28256)...	-	Oct 16, 2022 (156)
110	14KJPN Submission ignored due to conflicting rows: Row 85465668 (NC_000011.10:94049618::AA 14610/28256) Row 85465669 (NC_000011.10:94049618::AAAA 9747/28256) Row 85465670 (NC_000011.10:94049618::A 259/28256)...	-	Oct 16, 2022 (156)
111	14KJPN Submission ignored due to conflicting rows: Row 85465668 (NC_000011.10:94049618::AA 14610/28256) Row 85465669 (NC_000011.10:94049618::AAAA 9747/28256) Row 85465670 (NC_000011.10:94049618::A 259/28256)...	-	Oct 16, 2022 (156)
112	14KJPN Submission ignored due to conflicting rows: Row 85465668 (NC_000011.10:94049618::AA 14610/28256) Row 85465669 (NC_000011.10:94049618::AAAA 9747/28256) Row 85465670 (NC_000011.10:94049618::A 259/28256)...	-	Oct 16, 2022 (156)
113	14KJPN Submission ignored due to conflicting rows: Row 85465668 (NC_000011.10:94049618::AA 14610/28256) Row 85465669 (NC_000011.10:94049618::AAAA 9747/28256) Row 85465670 (NC_000011.10:94049618::A 259/28256)...	-	Oct 16, 2022 (156)
114	14KJPN Submission ignored due to conflicting rows: Row 85465668 (NC_000011.10:94049618::AA 14610/28256) Row 85465669 (NC_000011.10:94049618::AAAA 9747/28256) Row 85465670 (NC_000011.10:94049618::A 259/28256)...	-	Oct 16, 2022 (156)
115	UK 10K study - Twins Submission ignored due to conflicting rows: Row 30538290 (NC_000011.9:93782784::AA 1708/3708) Row 30538291 (NC_000011.9:93782784::AAAA 1015/3708) Row 30538292 (NC_000011.9:93782784::AAA 985/3708)	-	Oct 12, 2018 (152)
116	UK 10K study - Twins Submission ignored due to conflicting rows: Row 30538290 (NC_000011.9:93782784::AA 1708/3708) Row 30538291 (NC_000011.9:93782784::AAAA 1015/3708) Row 30538292 (NC_000011.9:93782784::AAA 985/3708)	-	Oct 12, 2018 (152)
117	UK 10K study - Twins Submission ignored due to conflicting rows: Row 30538290 (NC_000011.9:93782784::AA 1708/3708) Row 30538291 (NC_000011.9:93782784::AAAA 1015/3708) Row 30538292 (NC_000011.9:93782784::AAA 985/3708)	-	Oct 12, 2018 (152)
118	ALFA	NC_000011.10 - 94049619	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)
rs34677227	Oct 15, 2006 (127)
rs386362539	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4240323032	NC_000011.10:94049618:AA:	NC_000011.10:94049618:AAAAAAAAAAAA… NC_000011.10:94049618:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
3050516694	NC_000011.10:94049618:AAAAAAAAAAAA… NC_000011.10:94049618:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000011.10:94049618:AAAAAAAAAAAA… NC_000011.10:94049618:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4240323031, ss5288465504, ss5921152995	NC_000011.10:94049618:A:	NC_000011.10:94049618:AAAAAAAAAAAA… NC_000011.10:94049618:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
3050516694	NC_000011.10:94049618:AAAAAAAAAAAA… NC_000011.10:94049618:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000011.10:94049618:AAAAAAAAAAAA… NC_000011.10:94049618:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3008576570, ss3738429138, ss3792159664, ss3797042081, ss5203338103	NC_000011.9:93782784::A	NC_000011.10:94049618:AAAAAAAAAAAA… NC_000011.10:94049618:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3692358962, ss3970513339, ss4240323023, ss5288465501, ss5483502983, ss5751628566	NC_000011.10:94049618::A	NC_000011.10:94049618:AAAAAAAAAAAA… NC_000011.10:94049618:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
3050516694	NC_000011.10:94049618:AAAAAAAAAAAA… NC_000011.10:94049618:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000011.10:94049618:AAAAAAAAAAAA… NC_000011.10:94049618:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss39933648, ss39941313	NT_167190.1:39088579::A	NC_000011.10:94049618:AAAAAAAAAAAA… NC_000011.10:94049618:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss289088423	NC_000011.8:93422448::AA	NC_000011.10:94049618:AAAAAAAAAAAA… NC_000011.10:94049618:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
55027083, ss666544972, ss1371346629, ss1707209042, ss1707209433, ss3008576568, ss3738429134, ss3787030599, ss3792159665, ss3797042082, ss3832772419, ss5203338101, ss5837055746	NC_000011.9:93782784::AA	NC_000011.10:94049618:AAAAAAAAAAAA… NC_000011.10:94049618:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3692358961, ss3814990264, ss3970513340, ss4240323024, ss5288465500, ss5483502980, ss5751628564	NC_000011.10:94049618::AA	NC_000011.10:94049618:AAAAAAAAAAAA… NC_000011.10:94049618:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
3050516694	NC_000011.10:94049618:AAAAAAAAAAAA… NC_000011.10:94049618:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000011.10:94049618:AAAAAAAAAAAA… NC_000011.10:94049618:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss5316288, ss95960213	NT_167190.1:39088595::AA	NC_000011.10:94049618:AAAAAAAAAAAA… NC_000011.10:94049618:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss1707209045, ss1707209440, ss3008576571, ss3738429136, ss5203338102, ss5837055747	NC_000011.9:93782784::AAA	NC_000011.10:94049618:AAAAAAAAAAAA… NC_000011.10:94049618:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3063702556, ss3065442972, ss3692358960, ss3970513341, ss4240323025, ss5288465502, ss5483502981, ss5751628567	NC_000011.10:94049618::AAA	NC_000011.10:94049618:AAAAAAAAAAAA… NC_000011.10:94049618:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
3050516694	NC_000011.10:94049618:AAAAAAAAAAAA… NC_000011.10:94049618:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000011.10:94049618:AAAAAAAAAAAA… NC_000011.10:94049618:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss294716300	NC_000011.8:93422433::AAAA	NC_000011.10:94049618:AAAAAAAAAAAA… NC_000011.10:94049618:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss289088423	NC_000011.8:93422448::AAAA	NC_000011.10:94049618:AAAAAAAAAAAA… NC_000011.10:94049618:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss1707209044, ss1707209436, ss3008576569, ss3738429135, ss5203338104, ss5837055748	NC_000011.9:93782784::AAAA	NC_000011.10:94049618:AAAAAAAAAAAA… NC_000011.10:94049618:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3692358959, ss3845426643, ss3970513342, ss4240323026, ss5288465503, ss5483502982, ss5751628565	NC_000011.10:94049618::AAAA	NC_000011.10:94049618:AAAAAAAAAAAA… NC_000011.10:94049618:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
3050516694	NC_000011.10:94049618:AAAAAAAAAAAA… NC_000011.10:94049618:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000011.10:94049618:AAAAAAAAAAAA… NC_000011.10:94049618:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss95576629	NT_167190.1:39088595::AAAA	NC_000011.10:94049618:AAAAAAAAAAAA… NC_000011.10:94049618:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3008576572, ss3738429137, ss5203338105	NC_000011.9:93782784::AAAAA	NC_000011.10:94049618:AAAAAAAAAAAA… NC_000011.10:94049618:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3692358958, ss3970513343, ss4240323027, ss5288465505, ss5751628568	NC_000011.10:94049618::AAAAA	NC_000011.10:94049618:AAAAAAAAAAAA… NC_000011.10:94049618:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
3050516694	NC_000011.10:94049618:AAAAAAAAAAAA… NC_000011.10:94049618:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000011.10:94049618:AAAAAAAAAAAA… NC_000011.10:94049618:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss5203338106	NC_000011.9:93782784::AAAAAA	NC_000011.10:94049618:AAAAAAAAAAAA… NC_000011.10:94049618:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4240323028, ss5751628569	NC_000011.10:94049618::AAAAAA	NC_000011.10:94049618:AAAAAAAAAAAA… NC_000011.10:94049618:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
3050516694	NC_000011.10:94049618:AAAAAAAAAAAA… NC_000011.10:94049618:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000011.10:94049618:AAAAAAAAAAAA… NC_000011.10:94049618:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3008576573	NC_000011.9:93782784::AAAAAAA	NC_000011.10:94049618:AAAAAAAAAAAA… NC_000011.10:94049618:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
3050516694	NC_000011.10:94049618:AAAAAAAAAAAA… NC_000011.10:94049618:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000011.10:94049618:AAAAAAAAAAAA… NC_000011.10:94049618:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3153152772	NC_000011.10:94049618::AAAAAAA	NC_000011.10:94049618:AAAAAAAAAAAA… NC_000011.10:94049618:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA

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

No publications for rs3995730

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

rs3995730