Name: rs10733310
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.

rs10733310

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr9:16464982 (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>A / T>G
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.401709 (118533/295072, ALFA)
G=0.420258 (111238/264690, TOPMED)
G=0.45448 (35766/78696, PAGE_STUDY) (+ 18 more)
T=0.39447 (11147/28258, 14KJPN)
T=0.39344 (6594/16760, 8.3KJPN)
G=0.4905 (3141/6404, 1000G_30x)
G=0.4936 (2472/5008, 1000G)
G=0.4940 (2213/4480, Estonian)
T=0.3212 (941/2930, KOREAN)
T=0.4976 (1037/2084, HGDP_Stanford)
G=0.4561 (862/1890, HapMap)
G=0.4346 (492/1132, Daghestan)
G=0.433 (432/998, GoNL)
T=0.365 (288/790, PRJEB37584)
G=0.470 (282/600, NorthernSweden)
T=0.294 (116/394, SGDP_PRJ)
G=0.264 (57/216, Qatari)
T=0.454 (98/216, Vietnamese)
G=0.15 (12/82, Ancient Sardinia)
T=0.39 (17/44, Siberian)
G=0.33 (13/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: BNC2 : Intron Variant
Publications: 1 citation
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	300108	T=0.598318	A=0.000000, G=0.401682
European	Sub	263880	T=0.608102	A=0.000000, G=0.391898
African	Sub	10018	T=0.66510	A=0.00000, G=0.33490
African Others	Sub	398	T=0.671	A=0.000, G=0.329
African American	Sub	9620	T=0.6649	A=0.0000, G=0.3351
Asian	Sub	3856	T=0.3361	A=0.0000, G=0.6639
East Asian	Sub	3130	T=0.3278	A=0.0000, G=0.6722
Other Asian	Sub	726	T=0.372	A=0.000, G=0.628
Latin American 1	Sub	1046	T=0.6262	A=0.0000, G=0.3738
Latin American 2	Sub	6710	T=0.4168	A=0.0000, G=0.5832
South Asian	Sub	5144	T=0.4298	A=0.0000, G=0.5702
Other	Sub	9454	T=0.5788	A=0.0000, G=0.4212

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	295072	T=0.598291	A=0.000000, G=0.401709
Allele Frequency Aggregator	European	Sub	260786	T=0.608135	A=0.000000, G=0.391865
Allele Frequency Aggregator	African	Sub	8876	T=0.6712	A=0.0000, G=0.3288
Allele Frequency Aggregator	Other	Sub	8654	T=0.5811	A=0.0000, G=0.4189
Allele Frequency Aggregator	Latin American 2	Sub	6710	T=0.4168	A=0.0000, G=0.5832
Allele Frequency Aggregator	South Asian	Sub	5144	T=0.4298	A=0.0000, G=0.5702
Allele Frequency Aggregator	Asian	Sub	3856	T=0.3361	A=0.0000, G=0.6639
Allele Frequency Aggregator	Latin American 1	Sub	1046	T=0.6262	A=0.0000, G=0.3738
TopMed	Global	Study-wide	264690	T=0.579742	G=0.420258
The PAGE Study	Global	Study-wide	78696	T=0.54552	G=0.45448
The PAGE Study	AfricanAmerican	Sub	32514	T=0.62327	G=0.37673
The PAGE Study	Mexican	Sub	10810	T=0.39084	G=0.60916
The PAGE Study	Asian	Sub	8314	T=0.3718	G=0.6282
The PAGE Study	PuertoRican	Sub	7918	T=0.6061	G=0.3939
The PAGE Study	NativeHawaiian	Sub	4534	T=0.5611	G=0.4389
The PAGE Study	Cuban	Sub	4230	T=0.6350	G=0.3650
The PAGE Study	Dominican	Sub	3828	T=0.6343	G=0.3657
The PAGE Study	CentralAmerican	Sub	2450	T=0.4216	G=0.5784
The PAGE Study	SouthAmerican	Sub	1982	T=0.4213	G=0.5787
The PAGE Study	NativeAmerican	Sub	1260	T=0.5159	G=0.4841
The PAGE Study	SouthAsian	Sub	856	T=0.437	G=0.563
14KJPN	JAPANESE	Study-wide	28258	T=0.39447	G=0.60553
8.3KJPN	JAPANESE	Study-wide	16760	T=0.39344	G=0.60656
1000Genomes_30x	Global	Study-wide	6404	T=0.5095	G=0.4905
1000Genomes_30x	African	Sub	1786	T=0.6237	G=0.3763
1000Genomes_30x	Europe	Sub	1266	T=0.5885	G=0.4115
1000Genomes_30x	South Asian	Sub	1202	T=0.4027	G=0.5973
1000Genomes_30x	East Asian	Sub	1170	T=0.3838	G=0.6162
1000Genomes_30x	American	Sub	980	T=0.481	G=0.519
1000Genomes	Global	Study-wide	5008	T=0.5064	G=0.4936
1000Genomes	African	Sub	1322	T=0.6263	G=0.3737
1000Genomes	East Asian	Sub	1008	T=0.3879	G=0.6121
1000Genomes	Europe	Sub	1006	T=0.5885	G=0.4115
1000Genomes	South Asian	Sub	978	T=0.400	G=0.600
1000Genomes	American	Sub	694	T=0.481	G=0.519
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.5060	G=0.4940
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.3212	G=0.6788
HGDP-CEPH-db Supplement 1	Global	Study-wide	2084	T=0.4976	G=0.5024
HGDP-CEPH-db Supplement 1	Est_Asia	Sub	470	T=0.383	G=0.617
HGDP-CEPH-db Supplement 1	Central_South_Asia	Sub	414	T=0.469	G=0.531
HGDP-CEPH-db Supplement 1	Middle_Est	Sub	350	T=0.654	G=0.346
HGDP-CEPH-db Supplement 1	Europe	Sub	320	T=0.628	G=0.372
HGDP-CEPH-db Supplement 1	Africa	Sub	242	T=0.736	G=0.264
HGDP-CEPH-db Supplement 1	America	Sub	216	T=0.171	G=0.829
HGDP-CEPH-db Supplement 1	Oceania	Sub	72	T=0.25	G=0.75
HapMap	Global	Study-wide	1890	T=0.5439	G=0.4561
HapMap	American	Sub	768	T=0.469	G=0.531
HapMap	African	Sub	692	T=0.659	G=0.341
HapMap	Asian	Sub	254	T=0.354	G=0.646
HapMap	Europe	Sub	176	T=0.693	G=0.307
Genome-wide autozygosity in Daghestan	Global	Study-wide	1132	T=0.5654	G=0.4346
Genome-wide autozygosity in Daghestan	Daghestan	Sub	626	T=0.585	G=0.415
Genome-wide autozygosity in Daghestan	Near_East	Sub	142	T=0.690	G=0.310
Genome-wide autozygosity in Daghestan	Central Asia	Sub	122	T=0.508	G=0.492
Genome-wide autozygosity in Daghestan	Europe	Sub	108	T=0.611	G=0.389
Genome-wide autozygosity in Daghestan	South Asian	Sub	98	T=0.34	G=0.66
Genome-wide autozygosity in Daghestan	Caucasus	Sub	36	T=0.42	G=0.58
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.567	G=0.433
CNV burdens in cranial meningiomas	Global	Study-wide	790	T=0.365	G=0.635
CNV burdens in cranial meningiomas	CRM	Sub	790	T=0.365	G=0.635
Northern Sweden	ACPOP	Study-wide	600	T=0.530	G=0.470
SGDP_PRJ	Global	Study-wide	394	T=0.294	G=0.706
Qatari	Global	Study-wide	216	T=0.736	G=0.264
A Vietnamese Genetic Variation Database	Global	Study-wide	216	T=0.454	G=0.546
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	82	T=0.85	G=0.15
Siberian	Global	Study-wide	44	T=0.39	G=0.61
The Danish reference pan genome	Danish	Study-wide	40	T=0.68	G=0.33

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 9	NC_000009.12:g.16464982T>A
GRCh38.p14 chr 9	NC_000009.12:g.16464982T>G
GRCh37.p13 chr 9	NC_000009.11:g.16464980T>A
GRCh37.p13 chr 9	NC_000009.11:g.16464980T>G
BNC2 RefSeqGene	NG_051226.1:g.410857A>T
BNC2 RefSeqGene	NG_051226.1:g.410857A>C

Gene: BNC2, basonuclin 2 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
BNC2 transcript variant 2	NM_001317939.2:c.544-2745… NM_001317939.2:c.544-27458A>T	N/A	Intron Variant
BNC2 transcript variant 3	NM_001317940.2:c.385-2745… NM_001317940.2:c.385-27458A>T	N/A	Intron Variant
BNC2 transcript variant 1	NM_017637.6:c.670-27458A>T	N/A	Intron Variant
BNC2 transcript variant X1	XM_047423480.1:c.796-2745… XM_047423480.1:c.796-27458A>T	N/A	Intron Variant
BNC2 transcript variant X2	XM_047423481.1:c.796-2745… XM_047423481.1:c.796-27458A>T	N/A	Intron Variant
BNC2 transcript variant X3	XM_047423482.1:c.712-2745… XM_047423482.1:c.712-27458A>T	N/A	Intron Variant
BNC2 transcript variant X4	XM_047423483.1:c.670-2745… XM_047423483.1:c.670-27458A>T	N/A	Intron Variant
BNC2 transcript variant X5	XM_047423484.1:c.796-2745… XM_047423484.1:c.796-27458A>T	N/A	Intron Variant
BNC2 transcript variant X6	XM_047423485.1:c.796-2745… XM_047423485.1:c.796-27458A>T	N/A	Intron Variant
BNC2 transcript variant X7	XM_047423486.1:c.712-2745… XM_047423486.1:c.712-27458A>T	N/A	Intron Variant
BNC2 transcript variant X8	XM_047423487.1:c.754-2745… XM_047423487.1:c.754-27458A>T	N/A	Intron Variant
BNC2 transcript variant X9	XM_047423488.1:c.670-2745… XM_047423488.1:c.670-27458A>T	N/A	Intron Variant
BNC2 transcript variant X10	XM_047423489.1:c.712-2745… XM_047423489.1:c.712-27458A>T	N/A	Intron Variant
BNC2 transcript variant X11	XM_047423490.1:c.712-2745… XM_047423490.1:c.712-27458A>T	N/A	Intron Variant
BNC2 transcript variant X12	XM_047423491.1:c.544-2745… XM_047423491.1:c.544-27458A>T	N/A	Intron Variant
BNC2 transcript variant X13	XM_047423492.1:c.670-2745… XM_047423492.1:c.670-27458A>T	N/A	Intron Variant
BNC2 transcript variant X14	XM_047423493.1:c.544-2745… XM_047423493.1:c.544-27458A>T	N/A	Intron Variant
BNC2 transcript variant X15	XM_047423494.1:c.544-2745… XM_047423494.1:c.544-27458A>T	N/A	Intron Variant
BNC2 transcript variant X16	XM_047423495.1:c.544-2745… XM_047423495.1:c.544-27458A>T	N/A	Intron Variant
BNC2 transcript variant X17	XM_047423496.1:c.343-2745… XM_047423496.1:c.343-27458A>T	N/A	Intron Variant
BNC2 transcript variant X18	XM_047423497.1:c.343-2745… XM_047423497.1:c.343-27458A>T	N/A	Intron Variant
BNC2 transcript variant X19	XM_047423498.1:c.373-2745… XM_047423498.1:c.373-27458A>T	N/A	Intron Variant
BNC2 transcript variant X20	XM_047423500.1:c.343-2745… XM_047423500.1:c.343-27458A>T	N/A	Intron Variant
BNC2 transcript variant X21	XM_047423501.1:c.343-2745… XM_047423501.1:c.343-27458A>T	N/A	Intron Variant
BNC2 transcript variant X22	XM_047423502.1:c.373-2745… XM_047423502.1:c.373-27458A>T	N/A	Intron Variant
BNC2 transcript variant X23	XM_047423503.1:c.352-2745… XM_047423503.1:c.352-27458A>T	N/A	Intron Variant
BNC2 transcript variant X24	XM_047423504.1:c.352-2745… XM_047423504.1:c.352-27458A>T	N/A	Intron Variant
BNC2 transcript variant X25	XM_047423505.1:c.343-2745… XM_047423505.1:c.343-27458A>T	N/A	Intron Variant
BNC2 transcript variant X26	XM_047423506.1:c.343-2745… XM_047423506.1:c.343-27458A>T	N/A	Intron Variant
BNC2 transcript variant X27	XM_047423507.1:c.343-2745… XM_047423507.1:c.343-27458A>T	N/A	Intron Variant
BNC2 transcript variant X28	XM_047423508.1:c.343-2745… XM_047423508.1:c.343-27458A>T	N/A	Intron Variant
BNC2 transcript variant X29	XM_047423509.1:c.148-2745… XM_047423509.1:c.148-27458A>T	N/A	Intron Variant
BNC2 transcript variant X30	XM_047423510.1:c.796-2745… XM_047423510.1:c.796-27458A>T	N/A	Intron Variant
BNC2 transcript variant X31	XM_047423511.1:c.712-2745… XM_047423511.1:c.712-27458A>T	N/A	Intron Variant
BNC2 transcript variant X32	XM_047423512.1:c.670-2745… XM_047423512.1:c.670-27458A>T	N/A	Intron Variant
BNC2 transcript variant X33	XM_047423513.1:c.544-2745… XM_047423513.1:c.544-27458A>T	N/A	Intron Variant
BNC2 transcript variant X34	XM_047423514.1:c.544-2745… XM_047423514.1:c.544-27458A>T	N/A	Intron Variant
BNC2 transcript variant X35	XM_047423515.1:c.436-2745… XM_047423515.1:c.436-27458A>T	N/A	Intron Variant
BNC2 transcript variant X36	XM_047423516.1:c.352-2745… XM_047423516.1:c.352-27458A>T	N/A	Intron Variant
BNC2 transcript variant X37	XM_047423517.1:c.343-2745… XM_047423517.1:c.343-27458A>T	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	T=	A	G
GRCh38.p14 chr 9	NC_000009.12:g.16464982=	NC_000009.12:g.16464982T>A	NC_000009.12:g.16464982T>G
GRCh37.p13 chr 9	NC_000009.11:g.16464980=	NC_000009.11:g.16464980T>A	NC_000009.11:g.16464980T>G
BNC2 RefSeqGene	NG_051226.1:g.410857=	NG_051226.1:g.410857A>T	NG_051226.1:g.410857A>C
BNC2 transcript variant 2	NM_001317939.2:c.544-27458=	NM_001317939.2:c.544-27458A>T	NM_001317939.2:c.544-27458A>C
BNC2 transcript variant 3	NM_001317940.2:c.385-27458=	NM_001317940.2:c.385-27458A>T	NM_001317940.2:c.385-27458A>C
BNC2 transcript variant 1	NM_017637.5:c.670-27458=	NM_017637.5:c.670-27458A>T	NM_017637.5:c.670-27458A>C
BNC2 transcript variant 1	NM_017637.6:c.670-27458=	NM_017637.6:c.670-27458A>T	NM_017637.6:c.670-27458A>C
BNC2 transcript variant X1	XM_005251489.1:c.796-27458=	XM_005251489.1:c.796-27458A>T	XM_005251489.1:c.796-27458A>C
BNC2 transcript variant X2	XM_005251490.1:c.148-27458=	XM_005251490.1:c.148-27458A>T	XM_005251490.1:c.148-27458A>C
BNC2 transcript variant X1	XM_047423480.1:c.796-27458=	XM_047423480.1:c.796-27458A>T	XM_047423480.1:c.796-27458A>C
BNC2 transcript variant X2	XM_047423481.1:c.796-27458=	XM_047423481.1:c.796-27458A>T	XM_047423481.1:c.796-27458A>C
BNC2 transcript variant X3	XM_047423482.1:c.712-27458=	XM_047423482.1:c.712-27458A>T	XM_047423482.1:c.712-27458A>C
BNC2 transcript variant X4	XM_047423483.1:c.670-27458=	XM_047423483.1:c.670-27458A>T	XM_047423483.1:c.670-27458A>C
BNC2 transcript variant X5	XM_047423484.1:c.796-27458=	XM_047423484.1:c.796-27458A>T	XM_047423484.1:c.796-27458A>C
BNC2 transcript variant X6	XM_047423485.1:c.796-27458=	XM_047423485.1:c.796-27458A>T	XM_047423485.1:c.796-27458A>C
BNC2 transcript variant X7	XM_047423486.1:c.712-27458=	XM_047423486.1:c.712-27458A>T	XM_047423486.1:c.712-27458A>C
BNC2 transcript variant X8	XM_047423487.1:c.754-27458=	XM_047423487.1:c.754-27458A>T	XM_047423487.1:c.754-27458A>C
BNC2 transcript variant X9	XM_047423488.1:c.670-27458=	XM_047423488.1:c.670-27458A>T	XM_047423488.1:c.670-27458A>C
BNC2 transcript variant X10	XM_047423489.1:c.712-27458=	XM_047423489.1:c.712-27458A>T	XM_047423489.1:c.712-27458A>C
BNC2 transcript variant X11	XM_047423490.1:c.712-27458=	XM_047423490.1:c.712-27458A>T	XM_047423490.1:c.712-27458A>C
BNC2 transcript variant X12	XM_047423491.1:c.544-27458=	XM_047423491.1:c.544-27458A>T	XM_047423491.1:c.544-27458A>C
BNC2 transcript variant X13	XM_047423492.1:c.670-27458=	XM_047423492.1:c.670-27458A>T	XM_047423492.1:c.670-27458A>C
BNC2 transcript variant X14	XM_047423493.1:c.544-27458=	XM_047423493.1:c.544-27458A>T	XM_047423493.1:c.544-27458A>C
BNC2 transcript variant X15	XM_047423494.1:c.544-27458=	XM_047423494.1:c.544-27458A>T	XM_047423494.1:c.544-27458A>C
BNC2 transcript variant X16	XM_047423495.1:c.544-27458=	XM_047423495.1:c.544-27458A>T	XM_047423495.1:c.544-27458A>C
BNC2 transcript variant X17	XM_047423496.1:c.343-27458=	XM_047423496.1:c.343-27458A>T	XM_047423496.1:c.343-27458A>C
BNC2 transcript variant X18	XM_047423497.1:c.343-27458=	XM_047423497.1:c.343-27458A>T	XM_047423497.1:c.343-27458A>C
BNC2 transcript variant X19	XM_047423498.1:c.373-27458=	XM_047423498.1:c.373-27458A>T	XM_047423498.1:c.373-27458A>C
BNC2 transcript variant X20	XM_047423500.1:c.343-27458=	XM_047423500.1:c.343-27458A>T	XM_047423500.1:c.343-27458A>C
BNC2 transcript variant X21	XM_047423501.1:c.343-27458=	XM_047423501.1:c.343-27458A>T	XM_047423501.1:c.343-27458A>C
BNC2 transcript variant X22	XM_047423502.1:c.373-27458=	XM_047423502.1:c.373-27458A>T	XM_047423502.1:c.373-27458A>C
BNC2 transcript variant X23	XM_047423503.1:c.352-27458=	XM_047423503.1:c.352-27458A>T	XM_047423503.1:c.352-27458A>C
BNC2 transcript variant X24	XM_047423504.1:c.352-27458=	XM_047423504.1:c.352-27458A>T	XM_047423504.1:c.352-27458A>C
BNC2 transcript variant X25	XM_047423505.1:c.343-27458=	XM_047423505.1:c.343-27458A>T	XM_047423505.1:c.343-27458A>C
BNC2 transcript variant X26	XM_047423506.1:c.343-27458=	XM_047423506.1:c.343-27458A>T	XM_047423506.1:c.343-27458A>C
BNC2 transcript variant X27	XM_047423507.1:c.343-27458=	XM_047423507.1:c.343-27458A>T	XM_047423507.1:c.343-27458A>C
BNC2 transcript variant X28	XM_047423508.1:c.343-27458=	XM_047423508.1:c.343-27458A>T	XM_047423508.1:c.343-27458A>C
BNC2 transcript variant X29	XM_047423509.1:c.148-27458=	XM_047423509.1:c.148-27458A>T	XM_047423509.1:c.148-27458A>C
BNC2 transcript variant X30	XM_047423510.1:c.796-27458=	XM_047423510.1:c.796-27458A>T	XM_047423510.1:c.796-27458A>C
BNC2 transcript variant X31	XM_047423511.1:c.712-27458=	XM_047423511.1:c.712-27458A>T	XM_047423511.1:c.712-27458A>C
BNC2 transcript variant X32	XM_047423512.1:c.670-27458=	XM_047423512.1:c.670-27458A>T	XM_047423512.1:c.670-27458A>C
BNC2 transcript variant X33	XM_047423513.1:c.544-27458=	XM_047423513.1:c.544-27458A>T	XM_047423513.1:c.544-27458A>C
BNC2 transcript variant X34	XM_047423514.1:c.544-27458=	XM_047423514.1:c.544-27458A>T	XM_047423514.1:c.544-27458A>C
BNC2 transcript variant X35	XM_047423515.1:c.436-27458=	XM_047423515.1:c.436-27458A>T	XM_047423515.1:c.436-27458A>C
BNC2 transcript variant X36	XM_047423516.1:c.352-27458=	XM_047423516.1:c.352-27458A>T	XM_047423516.1:c.352-27458A>C
BNC2 transcript variant X37	XM_047423517.1:c.343-27458=	XM_047423517.1:c.343-27458A>T	XM_047423517.1:c.343-27458A>C

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#.

135 SubSNP, 23 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_SNP	ss16306636	Feb 27, 2004 (120)
2	CSHL-HAPMAP	ss17264154	Feb 27, 2004 (120)
3	CSHL-HAPMAP	ss18009997	Feb 27, 2004 (120)
4	SC_SNP	ss18584337	Feb 27, 2004 (120)
5	SC_SNP	ss18835432	Feb 27, 2004 (120)
6	CSHL-HAPMAP	ss20369202	Feb 27, 2004 (120)
7	SSAHASNP	ss22872282	Apr 05, 2004 (121)
8	ABI	ss43850951	Mar 14, 2006 (126)
9	ILLUMINA	ss66825444	Nov 30, 2006 (127)
10	ILLUMINA	ss66896894	Nov 30, 2006 (127)
11	ILLUMINA	ss67007417	Nov 30, 2006 (127)
12	ILLUMINA	ss70377346	May 17, 2007 (127)
13	ILLUMINA	ss70492947	May 26, 2008 (130)
14	ILLUMINA	ss71017671	May 17, 2007 (127)
15	ILLUMINA	ss75886930	Dec 07, 2007 (129)
16	HGSV	ss84429348	Dec 16, 2007 (130)
17	KRIBB_YJKIM	ss84983437	Dec 16, 2007 (130)
18	BCMHGSC_JDW	ss94020414	Mar 25, 2008 (129)
19	HUMANGENOME_JCVI	ss97710606	Feb 06, 2009 (130)
20	1000GENOMES	ss108636228	Jan 23, 2009 (130)
21	1000GENOMES	ss114228443	Jan 25, 2009 (130)
22	ILLUMINA-UK	ss115699807	Feb 14, 2009 (130)
23	ILLUMINA	ss121374744	Dec 01, 2009 (131)
24	ENSEMBL	ss133570155	Dec 01, 2009 (131)
25	ENSEMBL	ss143981896	Dec 01, 2009 (131)
26	ILLUMINA	ss152799067	Dec 01, 2009 (131)
27	GMI	ss157247875	Dec 01, 2009 (131)
28	ILLUMINA	ss159137809	Dec 01, 2009 (131)
29	ILLUMINA	ss159912437	Dec 01, 2009 (131)
30	COMPLETE_GENOMICS	ss163868141	Jul 04, 2010 (132)
31	COMPLETE_GENOMICS	ss164649412	Jul 04, 2010 (132)
32	ILLUMINA	ss169578695	Jul 04, 2010 (132)
33	ILLUMINA	ss170413185	Jul 04, 2010 (132)
34	BCM-HGSC-SUB	ss206703900	Jul 04, 2010 (132)
35	ILLUMINA	ss209083581	Jul 04, 2010 (132)
36	1000GENOMES	ss224150778	Jul 14, 2010 (132)
37	1000GENOMES	ss234746509	Jul 15, 2010 (132)
38	1000GENOMES	ss241535781	Jul 15, 2010 (132)
39	BL	ss254088384	May 09, 2011 (134)
40	GMI	ss280128980	May 04, 2012 (137)
41	GMI	ss285979836	Apr 25, 2013 (138)
42	PJP	ss294406543	May 09, 2011 (134)
43	ILLUMINA	ss479323742	May 04, 2012 (137)
44	ILLUMINA	ss479326898	May 04, 2012 (137)
45	ILLUMINA	ss479715638	Sep 08, 2015 (146)
46	ILLUMINA	ss484462148	May 04, 2012 (137)
47	ILLUMINA	ss536625963	Sep 08, 2015 (146)
48	TISHKOFF	ss561271124	Apr 25, 2013 (138)
49	SSMP	ss655700903	Apr 25, 2013 (138)
50	ILLUMINA	ss778737495	Aug 21, 2014 (142)
51	ILLUMINA	ss782677630	Aug 21, 2014 (142)
52	ILLUMINA	ss783646197	Aug 21, 2014 (142)
53	ILLUMINA	ss825346957	Apr 01, 2015 (144)
54	ILLUMINA	ss831928378	Apr 01, 2015 (144)
55	ILLUMINA	ss832650468	Aug 21, 2014 (142)
56	ILLUMINA	ss833241157	Aug 21, 2014 (142)
57	ILLUMINA	ss834197047	Aug 21, 2014 (142)
58	EVA-GONL	ss986364170	Aug 21, 2014 (142)
59	JMKIDD_LAB	ss1076153955	Aug 21, 2014 (142)
60	1000GENOMES	ss1333102117	Aug 21, 2014 (142)
61	HAMMER_LAB	ss1397549806	Sep 08, 2015 (146)
62	EVA_GENOME_DK	ss1583008788	Apr 01, 2015 (144)
63	EVA_DECODE	ss1595995967	Apr 01, 2015 (144)
64	EVA_SVP	ss1713095150	Apr 01, 2015 (144)
65	ILLUMINA	ss1752768954	Sep 08, 2015 (146)
66	WEILL_CORNELL_DGM	ss1929646589	Feb 12, 2016 (147)
67	ILLUMINA	ss1946254254	Feb 12, 2016 (147)
68	ILLUMINA	ss1959169321	Feb 12, 2016 (147)
69	GENOMED	ss1971167296	Jul 19, 2016 (147)
70	JJLAB	ss2025535176	Sep 14, 2016 (149)
71	USC_VALOUEV	ss2153761882	Dec 20, 2016 (150)
72	HUMAN_LONGEVITY	ss2309811537	Dec 20, 2016 (150)
73	SYSTEMSBIOZJU	ss2627242170	Nov 08, 2017 (151)
74	ILLUMINA	ss2634844064	Nov 08, 2017 (151)
75	GRF	ss2709562273	Nov 08, 2017 (151)
76	ILLUMINA	ss2711158034	Nov 08, 2017 (151)
77	GNOMAD	ss2875985744	Nov 08, 2017 (151)
78	SWEGEN	ss3004461693	Nov 08, 2017 (151)
79	ILLUMINA	ss3022912823	Nov 08, 2017 (151)
80	BIOINF_KMB_FNS_UNIBA	ss3026556956	Nov 08, 2017 (151)
81	CSHL	ss3348548162	Nov 08, 2017 (151)
82	ILLUMINA	ss3625979975	Oct 12, 2018 (152)
83	ILLUMINA	ss3630225385	Oct 12, 2018 (152)
84	ILLUMINA	ss3632737723	Oct 12, 2018 (152)
85	ILLUMINA	ss3633527369	Oct 12, 2018 (152)
86	ILLUMINA	ss3634255357	Oct 12, 2018 (152)
87	ILLUMINA	ss3635205409	Oct 12, 2018 (152)
88	ILLUMINA	ss3635933519	Oct 12, 2018 (152)
89	ILLUMINA	ss3636949217	Oct 12, 2018 (152)
90	ILLUMINA	ss3637686809	Oct 12, 2018 (152)
91	ILLUMINA	ss3638803311	Oct 12, 2018 (152)
92	ILLUMINA	ss3639406056	Oct 12, 2018 (152)
93	ILLUMINA	ss3639735090	Oct 12, 2018 (152)
94	ILLUMINA	ss3640912700	Oct 12, 2018 (152)
95	ILLUMINA	ss3643730933	Oct 12, 2018 (152)
96	ILLUMINA	ss3644987561	Oct 12, 2018 (152)
97	URBANLAB	ss3649082182	Oct 12, 2018 (152)
98	ILLUMINA	ss3653463683	Oct 12, 2018 (152)
99	EGCUT_WGS	ss3672205235	Jul 13, 2019 (153)
100	EVA_DECODE	ss3723570342	Jul 13, 2019 (153)
101	ILLUMINA	ss3726597648	Jul 13, 2019 (153)
102	ACPOP	ss3736353251	Jul 13, 2019 (153)
103	ILLUMINA	ss3744316928	Jul 13, 2019 (153)
104	ILLUMINA	ss3745505356	Jul 13, 2019 (153)
105	EVA	ss3768977249	Jul 13, 2019 (153)
106	PAGE_CC	ss3771489523	Jul 13, 2019 (153)
107	ILLUMINA	ss3772997427	Jul 13, 2019 (153)
108	KHV_HUMAN_GENOMES	ss3812136093	Jul 13, 2019 (153)
109	EVA	ss3831562824	Apr 26, 2020 (154)
110	EVA	ss3839297204	Apr 26, 2020 (154)
111	EVA	ss3844759603	Apr 26, 2020 (154)
112	HGDP	ss3847941994	Apr 26, 2020 (154)
113	SGDP_PRJ	ss3871623981	Apr 26, 2020 (154)
114	KRGDB	ss3919275864	Apr 26, 2020 (154)
115	EVA	ss3984616959	Apr 26, 2021 (155)
116	EVA	ss3985409044	Apr 26, 2021 (155)
117	TOPMED	ss4814349864	Apr 26, 2021 (155)
118	TOMMO_GENOMICS	ss5192304056	Apr 26, 2021 (155)
119	1000G_HIGH_COVERAGE	ss5279966807	Oct 16, 2022 (156)
120	EVA	ss5315388899	Oct 16, 2022 (156)
121	EVA	ss5386347632	Oct 16, 2022 (156)
122	HUGCELL_USP	ss5476229887	Oct 16, 2022 (156)
123	EVA	ss5509647439	Oct 16, 2022 (156)
124	1000G_HIGH_COVERAGE	ss5571826450	Oct 16, 2022 (156)
125	SANFORD_IMAGENETICS	ss5624714773	Oct 16, 2022 (156)
126	SANFORD_IMAGENETICS	ss5647005919	Oct 16, 2022 (156)
127	TOMMO_GENOMICS	ss5735414170	Oct 16, 2022 (156)
128	EVA	ss5799778974	Oct 16, 2022 (156)
129	YY_MCH	ss5810386801	Oct 16, 2022 (156)
130	EVA	ss5828917827	Oct 16, 2022 (156)
131	EVA	ss5847353061	Oct 16, 2022 (156)
132	EVA	ss5856692592	Oct 16, 2022 (156)
133	EVA	ss5915723490	Oct 16, 2022 (156)
134	EVA	ss5976280745	Oct 16, 2022 (156)
135	EVA	ss5979887659	Oct 16, 2022 (156)
136	1000Genomes	NC_000009.11 - 16464980	Oct 12, 2018 (152)
137	1000Genomes_30x	NC_000009.12 - 16464982	Oct 16, 2022 (156)
138	Genome-wide autozygosity in Daghestan	NC_000009.10 - 16454980	Apr 26, 2020 (154)
139	Genetic variation in the Estonian population	NC_000009.11 - 16464980	Oct 12, 2018 (152)
140	The Danish reference pan genome	NC_000009.11 - 16464980	Apr 26, 2020 (154)
141	gnomAD - Genomes Submission ignored due to conflicting rows: Row 319547007 (NC_000009.12:16464981:T:A 1/139982) Row 319547008 (NC_000009.12:16464981:T:G 58369/139912)	-	Apr 26, 2021 (155)
142	gnomAD - Genomes Submission ignored due to conflicting rows: Row 319547007 (NC_000009.12:16464981:T:A 1/139982) Row 319547008 (NC_000009.12:16464981:T:G 58369/139912)	-	Apr 26, 2021 (155)
143	Genome of the Netherlands Release 5	NC_000009.11 - 16464980	Apr 26, 2020 (154)
144	HGDP-CEPH-db Supplement 1	NC_000009.10 - 16454980	Apr 26, 2020 (154)
145	HapMap	NC_000009.12 - 16464982	Apr 26, 2020 (154)
146	KOREAN population from KRGDB	NC_000009.11 - 16464980	Apr 26, 2020 (154)
147	Northern Sweden	NC_000009.11 - 16464980	Jul 13, 2019 (153)
148	The PAGE Study	NC_000009.12 - 16464982	Jul 13, 2019 (153)
149	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000009.11 - 16464980	Apr 26, 2021 (155)
150	CNV burdens in cranial meningiomas	NC_000009.11 - 16464980	Apr 26, 2021 (155)
151	Qatari	NC_000009.11 - 16464980	Apr 26, 2020 (154)
152	SGDP_PRJ	NC_000009.11 - 16464980	Apr 26, 2020 (154)
153	Siberian	NC_000009.11 - 16464980	Apr 26, 2020 (154)
154	8.3KJPN	NC_000009.11 - 16464980	Apr 26, 2021 (155)
155	14KJPN	NC_000009.12 - 16464982	Oct 16, 2022 (156)
156	TopMed	NC_000009.12 - 16464982	Apr 26, 2021 (155)
157	A Vietnamese Genetic Variation Database	NC_000009.11 - 16464980	Jul 13, 2019 (153)
158	ALFA	NC_000009.12 - 16464982	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)
rs61178814	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
6612368711	NC_000009.12:16464981:T:A	NC_000009.12:16464981:T:A	(self)
ss84429348, ss3639406056, ss3639735090	NC_000009.9:16454979:T:G	NC_000009.12:16464981:T:G	(self)
523361, 619886, ss94020414, ss108636228, ss114228443, ss115699807, ss159912437, ss163868141, ss164649412, ss206703900, ss209083581, ss254088384, ss280128980, ss285979836, ss294406543, ss479323742, ss825346957, ss1397549806, ss1595995967, ss1713095150, ss3643730933, ss3847941994	NC_000009.10:16454979:T:G	NC_000009.12:16464981:T:G	(self)
45335856, 17943483, 9173725, 11250759, 26453258, 9638116, 634971, 166401, 11688519, 23640961, 6278236, 50273363, 5602256, ss224150778, ss234746509, ss241535781, ss479326898, ss479715638, ss484462148, ss536625963, ss561271124, ss655700903, ss778737495, ss782677630, ss783646197, ss831928378, ss832650468, ss833241157, ss834197047, ss986364170, ss1076153955, ss1333102117, ss1583008788, ss1752768954, ss1929646589, ss1946254254, ss1959169321, ss1971167296, ss2025535176, ss2153761882, ss2627242170, ss2634844064, ss2709562273, ss2711158034, ss2875985744, ss3004461693, ss3022912823, ss3348548162, ss3625979975, ss3630225385, ss3632737723, ss3633527369, ss3634255357, ss3635205409, ss3635933519, ss3636949217, ss3637686809, ss3638803311, ss3640912700, ss3644987561, ss3653463683, ss3672205235, ss3736353251, ss3744316928, ss3745505356, ss3768977249, ss3772997427, ss3831562824, ss3839297204, ss3871623981, ss3919275864, ss3984616959, ss3985409044, ss5192304056, ss5315388899, ss5386347632, ss5509647439, ss5624714773, ss5647005919, ss5799778974, ss5828917827, ss5847353061, ss5976280745, ss5979887659	NC_000009.11:16464979:T:G	NC_000009.12:16464981:T:G	(self)
59352385, 3790278, 710992, 69251274, 651727425, 6612368711, ss2309811537, ss3026556956, ss3649082182, ss3723570342, ss3726597648, ss3771489523, ss3812136093, ss3844759603, ss4814349864, ss5279966807, ss5476229887, ss5571826450, ss5735414170, ss5810386801, ss5856692592, ss5915723490	NC_000009.12:16464981:T:G	NC_000009.12:16464981:T:G	(self)
ss16306636, ss17264154, ss18009997, ss18584337, ss18835432, ss20369202, ss22872282	NT_008413.16:16454979:T:G	NC_000009.12:16464981:T:G	(self)
ss43850951, ss66825444, ss66896894, ss67007417, ss70377346, ss70492947, ss71017671, ss75886930, ss84983437, ss97710606, ss121374744, ss133570155, ss143981896, ss152799067, ss157247875, ss159137809, ss169578695, ss170413185	NT_008413.18:16454979:T:G	NC_000009.12:16464981:T:G	(self)

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

1 citation for rs10733310

PMID	Title	Author	Year	Journal
28057405	Genetic variants associated with skin aging in the Chinese Han population.	Gao W et al.	2017	Journal of dermatological science

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.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs10733310