Name: rs35696295
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.

rs35696295

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:150065524 (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: G>A / G>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.00051 (23/45006, ALFA)
T=0.00057 (16/28258, 14KJPN)
T=0.00054 (9/16760, 8.3KJPN) (+ 8 more)
T=0.00677 (88/13006, GO-ESP)
T=0.0097 (62/6404, 1000G_30x)
T=0.0104 (52/5008, 1000G)
A=0.0003 (1/2922, KOREAN)
A=0.0005 (1/1832, Korea1K)
T=0.005 (1/216, Qatari)
G=0.5 (5/10, SGDP_PRJ)
T=0.5 (5/10, SGDP_PRJ)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ULBP3 : Missense 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	61368	G=0.99710	A=0.00007, T=0.00284
European	Sub	42920	G=0.99981	A=0.00009, T=0.00009
African	Sub	8298	G=0.9820	A=0.0000, T=0.0180
African Others	Sub	304	G=0.990	A=0.000, T=0.010
African American	Sub	7994	G=0.9817	A=0.0000, T=0.0183
Asian	Sub	172	G=1.000	A=0.000, T=0.000
East Asian	Sub	114	G=1.000	A=0.000, T=0.000
Other Asian	Sub	58	G=1.00	A=0.00, T=0.00
Latin American 1	Sub	504	G=0.984	A=0.000, T=0.016
Latin American 2	Sub	632	G=1.000	A=0.000, T=0.000
South Asian	Sub	98	G=1.00	A=0.00, T=0.00
Other	Sub	8744	G=0.9985	A=0.0000, T=0.0015

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
Allele Frequency Aggregator	Total	Global	45006	G=0.99940	A=0.00009, T=0.00051
Allele Frequency Aggregator	European	Sub	32830	G=0.99985	A=0.00012, T=0.00003
Allele Frequency Aggregator	Other	Sub	7310	G=0.9990	A=0.0000, T=0.0010
Allele Frequency Aggregator	African	Sub	3460	G=0.9980	A=0.0000, T=0.0020
Allele Frequency Aggregator	Latin American 2	Sub	632	G=1.000	A=0.000, T=0.000
Allele Frequency Aggregator	Latin American 1	Sub	504	G=0.984	A=0.000, T=0.016
Allele Frequency Aggregator	Asian	Sub	172	G=1.000	A=0.000, T=0.000
Allele Frequency Aggregator	South Asian	Sub	98	G=1.00	A=0.00, T=0.00
14KJPN	JAPANESE	Study-wide	28258	G=0.99943	T=0.00057
8.3KJPN	JAPANESE	Study-wide	16760	G=0.99946	T=0.00054
GO Exome Sequencing Project	Global	Study-wide	13006	G=0.99323	T=0.00677
GO Exome Sequencing Project	European American	Sub	8600	G=0.9999	T=0.0001
GO Exome Sequencing Project	African American	Sub	4406	G=0.9803	T=0.0197
1000Genomes_30x	Global	Study-wide	6404	G=0.9903	T=0.0097
1000Genomes_30x	African	Sub	1786	G=0.9664	T=0.0336
1000Genomes_30x	Europe	Sub	1266	G=1.0000	T=0.0000
1000Genomes_30x	South Asian	Sub	1202	G=1.0000	T=0.0000
1000Genomes_30x	East Asian	Sub	1170	G=1.0000	T=0.0000
1000Genomes_30x	American	Sub	980	G=0.998	T=0.002
1000Genomes	Global	Study-wide	5008	G=0.9896	T=0.0104
1000Genomes	African	Sub	1322	G=0.9614	T=0.0386
1000Genomes	East Asian	Sub	1008	G=1.0000	T=0.0000
1000Genomes	Europe	Sub	1006	G=1.0000	T=0.0000
1000Genomes	South Asian	Sub	978	G=1.000	T=0.000
1000Genomes	American	Sub	694	G=0.999	T=0.001
KOREAN population from KRGDB	KOREAN	Study-wide	2922	G=0.9997	A=0.0003
Korean Genome Project	KOREAN	Study-wide	1832	G=0.9995	A=0.0005
Qatari	Global	Study-wide	216	G=0.995	T=0.005
SGDP_PRJ	Global	Study-wide	10	G=0.5	T=0.5

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 6	NC_000006.12:g.150065524G>A
GRCh38.p14 chr 6	NC_000006.12:g.150065524G>T
GRCh37.p13 chr 6	NC_000006.11:g.150386660G>A
GRCh37.p13 chr 6	NC_000006.11:g.150386660G>T

Gene: ULBP3, UL16 binding protein 3 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ULBP3 transcript	NM_024518.3:c.502C>T	R [CGG] > W [TGG]	Coding Sequence Variant
UL16-binding protein 3	NP_078794.1:p.Arg168Trp	R (Arg) > W (Trp)	Missense Variant
ULBP3 transcript	NM_024518.3:c.502C>A	R [CGG] > R [AGG]	Coding Sequence Variant
UL16-binding protein 3	NP_078794.1:p.Arg168=	R (Arg) > R (Arg)	Synonymous 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	G=	A	T
GRCh38.p14 chr 6	NC_000006.12:g.150065524=	NC_000006.12:g.150065524G>A	NC_000006.12:g.150065524G>T
GRCh37.p13 chr 6	NC_000006.11:g.150386660=	NC_000006.11:g.150386660G>A	NC_000006.11:g.150386660G>T
ULBP3 transcript	NM_024518.3:c.502=	NM_024518.3:c.502C>T	NM_024518.3:c.502C>A
ULBP3 transcript	NM_024518.2:c.502=	NM_024518.2:c.502C>T	NM_024518.2:c.502C>A
ULBP3 transcript	NM_024518.1:c.502=	NM_024518.1:c.502C>T	NM_024518.1:c.502C>A
UL16-binding protein 3	NP_078794.1:p.Arg168=	NP_078794.1:p.Arg168Trp	NP_078794.1:p.Arg168=

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#.

34 SubSNP, 18 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	APPLERA_GI	ss48430990	Mar 15, 2006 (126)
2	1000GENOMES	ss211945434	Jul 14, 2010 (132)
3	1000GENOMES	ss222752179	Jul 14, 2010 (132)
4	NHLBI-ESP	ss342225429	May 09, 2011 (134)
5	1000GENOMES	ss490936361	May 04, 2012 (137)
6	CLINSEQ_SNP	ss491898195	May 04, 2012 (137)
7	ILLUMINA	ss534231079	Sep 08, 2015 (146)
8	TISHKOFF	ss559616199	Apr 25, 2013 (138)
9	1000GENOMES	ss1322845828	Aug 21, 2014 (142)
10	EVA_EXAC	ss1688540240	Apr 01, 2015 (144)
11	EVA_EXAC	ss1688540241	Apr 01, 2015 (144)
12	WEILL_CORNELL_DGM	ss1926890873	Feb 12, 2016 (147)
13	HUMAN_LONGEVITY	ss2289589185	Dec 20, 2016 (150)
14	GRF	ss2707935403	Nov 08, 2017 (151)
15	GNOMAD	ss2736131572	Nov 08, 2017 (151)
16	GNOMAD	ss2747724154	Nov 08, 2017 (151)
17	GNOMAD	ss2846746156	Nov 08, 2017 (151)
18	ILLUMINA	ss3629687159	Oct 12, 2018 (152)
19	EVA	ss3824233778	Apr 26, 2020 (154)
20	SGDP_PRJ	ss3866007447	Apr 26, 2020 (154)
21	KRGDB	ss3912985247	Apr 26, 2020 (154)
22	KOGIC	ss3960341136	Apr 26, 2020 (154)
23	TOPMED	ss4726817899	Apr 26, 2021 (155)
24	TOPMED	ss4726817900	Apr 26, 2021 (155)
25	TOMMO_GENOMICS	ss5180566051	Apr 26, 2021 (155)
26	1000G_HIGH_COVERAGE	ss5270850927	Oct 13, 2022 (156)
27	EVA	ss5369926710	Oct 13, 2022 (156)
28	HUGCELL_USP	ss5468249046	Oct 13, 2022 (156)
29	1000G_HIGH_COVERAGE	ss5558049883	Oct 13, 2022 (156)
30	SANFORD_IMAGENETICS	ss5641779311	Oct 13, 2022 (156)
31	TOMMO_GENOMICS	ss5719630144	Oct 13, 2022 (156)
32	EVA	ss5886534516	Oct 13, 2022 (156)
33	EVA	ss5970705787	Oct 13, 2022 (156)
34	EVA	ss5970705788	Oct 13, 2022 (156)
35	1000Genomes	NC_000006.11 - 150386660	Oct 12, 2018 (152)
36	1000Genomes_30x	NC_000006.12 - 150065524	Oct 13, 2022 (156)
37	ExAC Submission ignored due to conflicting rows: Row 8590832 (NC_000006.11:150386659:G:G 121132/121412, NC_000006.11:150386659:G:T 280/121412) Row 8590833 (NC_000006.11:150386659:G:G 121406/121412, NC_000006.11:150386659:G:A 6/121412)	-	Oct 12, 2018 (152)
38	ExAC Submission ignored due to conflicting rows: Row 8590832 (NC_000006.11:150386659:G:G 121132/121412, NC_000006.11:150386659:G:T 280/121412) Row 8590833 (NC_000006.11:150386659:G:G 121406/121412, NC_000006.11:150386659:G:A 6/121412)	-	Oct 12, 2018 (152)
39	gnomAD - Genomes Submission ignored due to conflicting rows: Row 245272329 (NC_000006.12:150065523:G:A 4/140128) Row 245272330 (NC_000006.12:150065523:G:T 1090/140124)	-	Apr 26, 2021 (155)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 245272329 (NC_000006.12:150065523:G:A 4/140128) Row 245272330 (NC_000006.12:150065523:G:T 1090/140124)	-	Apr 26, 2021 (155)
41	gnomAD - Exomes Submission ignored due to conflicting rows: Row 5283961 (NC_000006.11:150386659:G:G 251480/251492, NC_000006.11:150386659:G:A 12/251492) Row 5283962 (NC_000006.11:150386659:G:G 250994/251492, NC_000006.11:150386659:G:T 498/251492)	-	Jul 13, 2019 (153)
42	gnomAD - Exomes Submission ignored due to conflicting rows: Row 5283961 (NC_000006.11:150386659:G:G 251480/251492, NC_000006.11:150386659:G:A 12/251492) Row 5283962 (NC_000006.11:150386659:G:G 250994/251492, NC_000006.11:150386659:G:T 498/251492)	-	Jul 13, 2019 (153)
43	GO Exome Sequencing Project	NC_000006.11 - 150386660	Oct 12, 2018 (152)
44	KOREAN population from KRGDB	NC_000006.11 - 150386660	Apr 26, 2020 (154)
45	Korean Genome Project	NC_000006.12 - 150065524	Apr 26, 2020 (154)
46	Qatari	NC_000006.11 - 150386660	Apr 26, 2020 (154)
47	SGDP_PRJ	NC_000006.11 - 150386660	Apr 26, 2020 (154)
48	8.3KJPN	NC_000006.11 - 150386660	Apr 26, 2021 (155)
49	14KJPN	NC_000006.12 - 150065524	Oct 13, 2022 (156)
50	TopMed Submission ignored due to conflicting rows: Row 564195457 (NC_000006.12:150065523:G:A 5/264690) Row 564195458 (NC_000006.12:150065523:G:T 2137/264690)	-	Apr 26, 2021 (155)
51	TopMed Submission ignored due to conflicting rows: Row 564195457 (NC_000006.12:150065523:G:A 5/264690) Row 564195458 (NC_000006.12:150065523:G:T 2137/264690)	-	Apr 26, 2021 (155)
52	ALFA	NC_000006.12 - 150065524	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
20162641, ss1688540241, ss2707935403, ss2736131572, ss2747724154, ss2846746156, ss3912985247	NC_000006.11:150386659:G:A	NC_000006.12:150065523:G:A	(self)
16719137, 4336831558, ss3960341136, ss4726817899	NC_000006.12:150065523:G:A	NC_000006.12:150065523:G:A	(self)
ss211945434, ss491898195	NC_000006.10:150428352:G:T	NC_000006.12:150065523:G:T	(self)
34736173, 691767, 8932803, 18024427, 38535358, ss222752179, ss342225429, ss490936361, ss534231079, ss559616199, ss1322845828, ss1688540240, ss1926890873, ss2736131572, ss2747724154, ss2846746156, ss3629687159, ss3824233778, ss3866007447, ss5180566051, ss5369926710, ss5641779311, ss5970705787, ss5970705788	NC_000006.11:150386659:G:T	NC_000006.12:150065523:G:T	(self)
45575818, 53467248, 4336831558, ss2289589185, ss4726817900, ss5270850927, ss5468249046, ss5558049883, ss5719630144, ss5886534516	NC_000006.12:150065523:G:T	NC_000006.12:150065523:G:T	(self)
ss48430990	NT_025741.15:54556116:G:T	NC_000006.12:150065523:G: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 rs35696295

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

rs35696295