Name: rs1746444
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.

rs1746444

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:87330150 (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>C
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.386161 (102213/264690, TOPMED)
G=0.42576 (12031/28258, 14KJPN)
G=0.42578 (7136/16760, 8.3KJPN) (+ 16 more)
G=0.4549 (4486/9862, ALFA)
G=0.4136 (2649/6404, 1000G_30x)
G=0.4081 (2044/5008, 1000G)
G=0.3391 (1519/4480, Estonian)
G=0.3895 (1501/3854, ALSPAC)
G=0.3821 (1417/3708, TWINSUK)
G=0.4522 (1325/2930, KOREAN)
G=0.3642 (689/1892, HapMap)
G=0.4307 (789/1832, Korea1K)
G=0.376 (375/998, GoNL)
G=0.313 (188/600, NorthernSweden)
G=0.252 (117/464, SGDP_PRJ)
G=0.440 (95/216, Qatari)
G=0.481 (102/212, Vietnamese)
G=0.24 (10/42, Siberian)
G=0.33 (13/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SMIM8 : Intron Variant
GJB7 : 2KB Upstream 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	9862	G=0.4549	A=0.0000, C=0.5451
European	Sub	8416	G=0.4336	A=0.0000, C=0.5664
African	Sub	874	G=0.473	A=0.000, C=0.527
African Others	Sub	38	G=0.53	A=0.00, C=0.47
African American	Sub	836	G=0.470	A=0.000, C=0.530
Asian	Sub	28	G=0.93	A=0.00, C=0.07
East Asian	Sub	26	G=1.00	A=0.00, C=0.00
Other Asian	Sub	2	G=0.0	A=0.0, C=1.0
Latin American 1	Sub	28	G=1.00	A=0.00, C=0.00
Latin American 2	Sub	198	G=1.000	A=0.000, C=0.000
South Asian	Sub	22	G=0.86	A=0.00, C=0.14
Other	Sub	296	G=0.517	A=0.000, C=0.483

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	G=0.386161	C=0.613839
14KJPN	JAPANESE	Study-wide	28258	G=0.42576	C=0.57424
8.3KJPN	JAPANESE	Study-wide	16760	G=0.42578	C=0.57422
Allele Frequency Aggregator	Total	Global	9862	G=0.4549	A=0.0000, C=0.5451
Allele Frequency Aggregator	European	Sub	8416	G=0.4336	A=0.0000, C=0.5664
Allele Frequency Aggregator	African	Sub	874	G=0.473	A=0.000, C=0.527
Allele Frequency Aggregator	Other	Sub	296	G=0.517	A=0.000, C=0.483
Allele Frequency Aggregator	Latin American 2	Sub	198	G=1.000	A=0.000, C=0.000
Allele Frequency Aggregator	Latin American 1	Sub	28	G=1.00	A=0.00, C=0.00
Allele Frequency Aggregator	Asian	Sub	28	G=0.93	A=0.00, C=0.07
Allele Frequency Aggregator	South Asian	Sub	22	G=0.86	A=0.00, C=0.14
1000Genomes_30x	Global	Study-wide	6404	G=0.4136	C=0.5864
1000Genomes_30x	African	Sub	1786	G=0.2721	C=0.7279
1000Genomes_30x	Europe	Sub	1266	G=0.3728	C=0.6272
1000Genomes_30x	South Asian	Sub	1202	G=0.4692	C=0.5308
1000Genomes_30x	East Asian	Sub	1170	G=0.4692	C=0.5308
1000Genomes_30x	American	Sub	980	G=0.590	C=0.410
1000Genomes	Global	Study-wide	5008	G=0.4081	C=0.5919
1000Genomes	African	Sub	1322	G=0.2648	C=0.7352
1000Genomes	East Asian	Sub	1008	G=0.4613	C=0.5387
1000Genomes	Europe	Sub	1006	G=0.3658	C=0.6342
1000Genomes	South Asian	Sub	978	G=0.464	C=0.536
1000Genomes	American	Sub	694	G=0.586	C=0.414
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.3391	C=0.6609
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.3895	C=0.6105
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.3821	C=0.6179
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.4522	C=0.5478
HapMap	Global	Study-wide	1892	G=0.3642	C=0.6358
HapMap	American	Sub	770	G=0.431	C=0.569
HapMap	African	Sub	692	G=0.270	C=0.730
HapMap	Asian	Sub	254	G=0.406	C=0.594
HapMap	Europe	Sub	176	G=0.381	C=0.619
Korean Genome Project	KOREAN	Study-wide	1832	G=0.4307	C=0.5693
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.376	C=0.624
Northern Sweden	ACPOP	Study-wide	600	G=0.313	C=0.687
SGDP_PRJ	Global	Study-wide	464	G=0.252	C=0.748
Qatari	Global	Study-wide	216	G=0.440	C=0.560
A Vietnamese Genetic Variation Database	Global	Study-wide	212	G=0.481	C=0.519
Siberian	Global	Study-wide	42	G=0.24	C=0.76
The Danish reference pan genome	Danish	Study-wide	40	G=0.33	C=0.68

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.87330150G>A
GRCh38.p14 chr 6	NC_000006.12:g.87330150G>C
GRCh37.p13 chr 6	NC_000006.11:g.88039868G>A
GRCh37.p13 chr 6	NC_000006.11:g.88039868G>C

Gene: SMIM8, small integral membrane protein 8 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SMIM8 transcript variant 1	NM_001042493.3:c.-44-542G… NM_001042493.3:c.-44-542G>A	N/A	Intron Variant
SMIM8 transcript variant 3	NM_001287445.2:c.-23-6859… NM_001287445.2:c.-23-6859G>A	N/A	Intron Variant
SMIM8 transcript variant 2	NM_020425.6:c.-23-6859G>A	N/A	Intron Variant

Gene: GJB7, gap junction protein beta 7 (minus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
GJB7 transcript	NM_198568.3:c.	N/A	Upstream Transcript Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	G=	A	C
GRCh38.p14 chr 6	NC_000006.12:g.87330150=	NC_000006.12:g.87330150G>A	NC_000006.12:g.87330150G>C
GRCh37.p13 chr 6	NC_000006.11:g.88039868=	NC_000006.11:g.88039868G>A	NC_000006.11:g.88039868G>C
SMIM8 transcript variant 1	NM_001042493.1:c.-44-542=	NM_001042493.1:c.-44-542G>A	NM_001042493.1:c.-44-542G>C
SMIM8 transcript variant 1	NM_001042493.3:c.-44-542=	NM_001042493.3:c.-44-542G>A	NM_001042493.3:c.-44-542G>C
SMIM8 transcript variant 3	NM_001287445.2:c.-23-6859=	NM_001287445.2:c.-23-6859G>A	NM_001287445.2:c.-23-6859G>C
SMIM8 transcript variant 2	NM_020425.4:c.-23-6859=	NM_020425.4:c.-23-6859G>A	NM_020425.4:c.-23-6859G>C
SMIM8 transcript variant 2	NM_020425.6:c.-23-6859=	NM_020425.6:c.-23-6859G>A	NM_020425.6:c.-23-6859G>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#.

78 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SC_JCM	ss2593012	Nov 09, 2000 (89)
2	WI_SSAHASNP	ss11812482	Jul 11, 2003 (116)
3	SC_SNP	ss12786088	Dec 05, 2003 (119)
4	ABI	ss44687299	Mar 13, 2006 (126)
5	AFFY	ss66280855	Nov 30, 2006 (127)
6	AFFY	ss75937487	Dec 06, 2007 (129)
7	HGSV	ss77335141	Dec 06, 2007 (129)
8	HGSV	ss78844290	Dec 06, 2007 (129)
9	KRIBB_YJKIM	ss81577687	Dec 15, 2007 (130)
10	HGSV	ss82663423	Dec 15, 2007 (130)
11	HGSV	ss82906562	Dec 15, 2007 (130)
12	HGSV	ss85077614	Dec 15, 2007 (130)
13	BCMHGSC_JDW	ss93511410	Mar 24, 2008 (129)
14	BGI	ss104334826	Dec 01, 2009 (131)
15	1000GENOMES	ss110489413	Jan 24, 2009 (130)
16	1000GENOMES	ss114705986	Jan 25, 2009 (130)
17	ILLUMINA-UK	ss116593255	Feb 14, 2009 (130)
18	ENSEMBL	ss144127383	Dec 01, 2009 (131)
19	GMI	ss157263400	Dec 01, 2009 (131)
20	COMPLETE_GENOMICS	ss163912692	Jul 04, 2010 (132)
21	AFFY	ss169381082	Jul 04, 2010 (132)
22	BUSHMAN	ss202140797	Jul 04, 2010 (132)
23	BCM-HGSC-SUB	ss207665490	Jul 04, 2010 (132)
24	1000GENOMES	ss222523496	Jul 14, 2010 (132)
25	1000GENOMES	ss233573282	Jul 15, 2010 (132)
26	1000GENOMES	ss240609748	Jul 15, 2010 (132)
27	BL	ss254531383	May 09, 2011 (134)
28	GMI	ss278909931	May 04, 2012 (137)
29	PJP	ss293657624	May 09, 2011 (134)
30	TISHKOFF	ss559352803	Apr 25, 2013 (138)
31	SSMP	ss653339542	Apr 25, 2013 (138)
32	EVA-GONL	ss983201134	Aug 21, 2014 (142)
33	JMKIDD_LAB	ss1073809266	Aug 21, 2014 (142)
34	1000GENOMES	ss1321145316	Aug 21, 2014 (142)
35	DDI	ss1430811364	Apr 01, 2015 (144)
36	EVA_GENOME_DK	ss1581780025	Apr 01, 2015 (144)
37	EVA_DECODE	ss1592752546	Apr 01, 2015 (144)
38	EVA_UK10K_ALSPAC	ss1616091620	Apr 01, 2015 (144)
39	EVA_UK10K_TWINSUK	ss1659085653	Apr 01, 2015 (144)
40	EVA_SVP	ss1712879553	Apr 01, 2015 (144)
41	HAMMER_LAB	ss1804546616	Sep 08, 2015 (146)
42	WEILL_CORNELL_DGM	ss1926459054	Feb 12, 2016 (147)
43	JJLAB	ss2023872444	Sep 14, 2016 (149)
44	USC_VALOUEV	ss2152064684	Dec 20, 2016 (150)
45	HUMAN_LONGEVITY	ss2285969973	Dec 20, 2016 (150)
46	SYSTEMSBIOZJU	ss2626431542	Nov 08, 2017 (151)
47	GRF	ss2707683048	Nov 08, 2017 (151)
48	GNOMAD	ss2841859987	Nov 08, 2017 (151)
49	SWEGEN	ss2999495498	Nov 08, 2017 (151)
50	BIOINF_KMB_FNS_UNIBA	ss3025730016	Nov 08, 2017 (151)
51	CSHL	ss3347098726	Nov 08, 2017 (151)
52	EGCUT_WGS	ss3667375472	Jul 13, 2019 (153)
53	EVA_DECODE	ss3717712254	Jul 13, 2019 (153)
54	ACPOP	ss3733733064	Jul 13, 2019 (153)
55	EVA	ss3765325507	Jul 13, 2019 (153)
56	PACBIO	ss3785544747	Jul 13, 2019 (153)
57	PACBIO	ss3790885168	Jul 13, 2019 (153)
58	PACBIO	ss3795764310	Jul 13, 2019 (153)
59	KHV_HUMAN_GENOMES	ss3808476154	Jul 13, 2019 (153)
60	EVA	ss3830055343	Apr 26, 2020 (154)
61	EVA	ss3838508972	Apr 26, 2020 (154)
62	EVA	ss3843956821	Apr 26, 2020 (154)
63	SGDP_PRJ	ss3865116146	Apr 26, 2020 (154)
64	KRGDB	ss3912007550	Apr 26, 2020 (154)
65	KOGIC	ss3959530988	Apr 26, 2020 (154)
66	TOPMED	ss4711823901	Apr 27, 2021 (155)
67	TOMMO_GENOMICS	ss5178647584	Apr 27, 2021 (155)
68	1000G_HIGH_COVERAGE	ss5269347878	Oct 14, 2022 (156)
69	HUGCELL_USP	ss5466886618	Oct 14, 2022 (156)
70	EVA	ss5508605586	Oct 14, 2022 (156)
71	1000G_HIGH_COVERAGE	ss5555751572	Oct 14, 2022 (156)
72	SANFORD_IMAGENETICS	ss5640921633	Oct 14, 2022 (156)
73	TOMMO_GENOMICS	ss5717156397	Oct 14, 2022 (156)
74	YY_MCH	ss5807707051	Oct 14, 2022 (156)
75	EVA	ss5842604571	Oct 14, 2022 (156)
76	EVA	ss5855461177	Oct 14, 2022 (156)
77	EVA	ss5884809616	Oct 14, 2022 (156)
78	EVA	ss5969423981	Oct 14, 2022 (156)
79	1000Genomes	NC_000006.11 - 88039868	Oct 12, 2018 (152)
80	1000Genomes_30x	NC_000006.12 - 87330150	Oct 14, 2022 (156)
81	The Avon Longitudinal Study of Parents and Children	NC_000006.11 - 88039868	Oct 12, 2018 (152)
82	Genetic variation in the Estonian population	NC_000006.11 - 88039868	Oct 12, 2018 (152)
83	The Danish reference pan genome	NC_000006.11 - 88039868	Apr 26, 2020 (154)
84	gnomAD - Genomes Submission ignored due to conflicting rows: Row 232672769 (NC_000006.12:87330149:G:A 1/140024) Row 232672770 (NC_000006.12:87330149:G:C 88259/139954)	-	Apr 27, 2021 (155)
85	gnomAD - Genomes Submission ignored due to conflicting rows: Row 232672769 (NC_000006.12:87330149:G:A 1/140024) Row 232672770 (NC_000006.12:87330149:G:C 88259/139954)	-	Apr 27, 2021 (155)
86	Genome of the Netherlands Release 5	NC_000006.11 - 88039868	Apr 26, 2020 (154)
87	HapMap	NC_000006.12 - 87330150	Apr 26, 2020 (154)
88	KOREAN population from KRGDB	NC_000006.11 - 88039868	Apr 26, 2020 (154)
89	Korean Genome Project	NC_000006.12 - 87330150	Apr 26, 2020 (154)
90	Northern Sweden	NC_000006.11 - 88039868	Jul 13, 2019 (153)
91	Qatari	NC_000006.11 - 88039868	Apr 26, 2020 (154)
92	SGDP_PRJ	NC_000006.11 - 88039868	Apr 26, 2020 (154)
93	Siberian	NC_000006.11 - 88039868	Apr 26, 2020 (154)
94	8.3KJPN	NC_000006.11 - 88039868	Apr 27, 2021 (155)
95	14KJPN	NC_000006.12 - 87330150	Oct 14, 2022 (156)
96	TopMed	NC_000006.12 - 87330150	Apr 27, 2021 (155)
97	UK 10K study - Twins	NC_000006.11 - 88039868	Oct 12, 2018 (152)
98	A Vietnamese Genetic Variation Database	NC_000006.11 - 88039868	Jul 13, 2019 (153)
99	ALFA	NC_000006.12 - 87330150	Apr 27, 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)
rs59198050	Feb 27, 2009 (130)
rs59502247	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss2841859987	NC_000006.11:88039867:G:A	NC_000006.12:87330149:G:A	(self)
14864579830	NC_000006.12:87330149:G:A	NC_000006.12:87330149:G:A	(self)
ss77335141, ss78844290, ss82663423, ss82906562, ss85077614	NC_000006.9:88096586:G:C	NC_000006.12:87330149:G:C	(self)
ss66280855, ss75937487, ss93511410, ss110489413, ss114705986, ss116593255, ss163912692, ss169381082, ss202140797, ss207665490, ss254531383, ss278909931, ss293657624, ss1592752546, ss1712879553	NC_000006.10:88096586:G:C	NC_000006.12:87330149:G:C	(self)
32970715, 18362151, 13113720, 7944964, 8183055, 19184944, 7017929, 8500984, 17133126, 4581038, 36616891, 18362151, 4082014, ss222523496, ss233573282, ss240609748, ss559352803, ss653339542, ss983201134, ss1073809266, ss1321145316, ss1430811364, ss1581780025, ss1616091620, ss1659085653, ss1804546616, ss1926459054, ss2023872444, ss2152064684, ss2626431542, ss2707683048, ss2841859987, ss2999495498, ss3347098726, ss3667375472, ss3733733064, ss3765325507, ss3785544747, ss3790885168, ss3795764310, ss3830055343, ss3838508972, ss3865116146, ss3912007550, ss5178647584, ss5508605586, ss5640921633, ss5842604571, ss5969423981	NC_000006.11:88039867:G:C	NC_000006.12:87330149:G:C	(self)
43277507, 3185080, 15908989, 50993501, 549201459, 14864579830, ss2285969973, ss3025730016, ss3717712254, ss3808476154, ss3843956821, ss3959530988, ss4711823901, ss5269347878, ss5466886618, ss5555751572, ss5717156397, ss5807707051, ss5855461177, ss5884809616	NC_000006.12:87330149:G:C	NC_000006.12:87330149:G:C	(self)
ss11812482	NT_007299.12:25860038:G:C	NC_000006.12:87330149:G:C	(self)
ss2593012, ss12786088, ss44687299, ss81577687, ss104334826, ss144127383, ss157263400	NT_007299.13:26159701:G:C	NC_000006.12:87330149:G:C	(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 rs1746444

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

rs1746444