Name: rs7034322
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.

rs7034322

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr9:70215616 (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>C
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.206638 (54695/264690, TOPMED)
T=0.36970 (10447/28258, 14KJPN)
T=0.36850 (6176/16760, 8.3KJPN) (+ 16 more)
T=0.2442 (2379/9744, ALFA)
T=0.2416 (1547/6404, 1000G_30x)
T=0.2426 (1215/5008, 1000G)
T=0.1955 (876/4480, Estonian)
T=0.2151 (829/3854, ALSPAC)
T=0.2036 (755/3708, TWINSUK)
T=0.2853 (836/2930, KOREAN)
T=0.2513 (473/1882, HapMap)
T=0.2664 (488/1832, Korea1K)
T=0.193 (193/998, GoNL)
T=0.197 (118/600, NorthernSweden)
T=0.183 (92/502, SGDP_PRJ)
T=0.241 (52/216, Qatari)
T=0.374 (80/214, Vietnamese)
T=0.23 (12/52, Siberian)
T=0.15 (6/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: MAMDC2 : Intron Variant
SMC5-DT : 500B Downstream 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	9744	T=0.2442	A=0.0000, C=0.7558
European	Sub	7190	T=0.2260	A=0.0000, C=0.7740
African	Sub	1884	T=0.3036	A=0.0000, C=0.6964
African Others	Sub	62	T=0.32	A=0.00, C=0.68
African American	Sub	1822	T=0.3030	A=0.0000, C=0.6970
Asian	Sub	24	T=0.62	A=0.00, C=0.38
East Asian	Sub	18	T=0.61	A=0.00, C=0.39
Other Asian	Sub	6	T=0.7	A=0.0, C=0.3
Latin American 1	Sub	30	T=0.43	A=0.00, C=0.57
Latin American 2	Sub	68	T=0.28	A=0.00, C=0.72
South Asian	Sub	8	T=1.0	A=0.0, C=0.0
Other	Sub	540	T=0.235	A=0.000, C=0.765

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
TopMed	Global	Study-wide	264690	T=0.206638	C=0.793362
14KJPN	JAPANESE	Study-wide	28258	T=0.36970	C=0.63030
8.3KJPN	JAPANESE	Study-wide	16760	T=0.36850	C=0.63150
Allele Frequency Aggregator	Total	Global	9744	T=0.2442	A=0.0000, C=0.7558
Allele Frequency Aggregator	European	Sub	7190	T=0.2260	A=0.0000, C=0.7740
Allele Frequency Aggregator	African	Sub	1884	T=0.3036	A=0.0000, C=0.6964
Allele Frequency Aggregator	Other	Sub	540	T=0.235	A=0.000, C=0.765
Allele Frequency Aggregator	Latin American 2	Sub	68	T=0.28	A=0.00, C=0.72
Allele Frequency Aggregator	Latin American 1	Sub	30	T=0.43	A=0.00, C=0.57
Allele Frequency Aggregator	Asian	Sub	24	T=0.62	A=0.00, C=0.38
Allele Frequency Aggregator	South Asian	Sub	8	T=1.0	A=0.0, C=0.0
1000Genomes_30x	Global	Study-wide	6404	T=0.2416	C=0.7584
1000Genomes_30x	African	Sub	1786	T=0.2469	C=0.7531
1000Genomes_30x	Europe	Sub	1266	T=0.1951	C=0.8049
1000Genomes_30x	South Asian	Sub	1202	T=0.3236	C=0.6764
1000Genomes_30x	East Asian	Sub	1170	T=0.2607	C=0.7393
1000Genomes_30x	American	Sub	980	T=0.168	C=0.832
1000Genomes	Global	Study-wide	5008	T=0.2426	C=0.7574
1000Genomes	African	Sub	1322	T=0.2496	C=0.7504
1000Genomes	East Asian	Sub	1008	T=0.2669	C=0.7331
1000Genomes	Europe	Sub	1006	T=0.1918	C=0.8082
1000Genomes	South Asian	Sub	978	T=0.320	C=0.680
1000Genomes	American	Sub	694	T=0.159	C=0.841
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.1955	C=0.8045
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.2151	C=0.7849
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.2036	C=0.7964
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.2853	A=0.0000, C=0.7147
HapMap	Global	Study-wide	1882	T=0.2513	C=0.7487
HapMap	American	Sub	762	T=0.240	C=0.760
HapMap	African	Sub	692	T=0.259	C=0.741
HapMap	Asian	Sub	254	T=0.350	C=0.650
HapMap	Europe	Sub	174	T=0.126	C=0.874
Korean Genome Project	KOREAN	Study-wide	1832	T=0.2664	C=0.7336
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.193	C=0.807
Northern Sweden	ACPOP	Study-wide	600	T=0.197	C=0.803
SGDP_PRJ	Global	Study-wide	502	T=0.183	C=0.817
Qatari	Global	Study-wide	216	T=0.241	C=0.759
A Vietnamese Genetic Variation Database	Global	Study-wide	214	T=0.374	C=0.626
Siberian	Global	Study-wide	52	T=0.23	C=0.77
The Danish reference pan genome	Danish	Study-wide	40	T=0.15	C=0.85

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.70215616T>A
GRCh38.p14 chr 9	NC_000009.12:g.70215616T>C
GRCh37.p13 chr 9	NC_000009.11:g.72830532T>A
GRCh37.p13 chr 9	NC_000009.11:g.72830532T>C
MAMDC2 RefSeqGene	NG_052797.1:g.177098T>A
MAMDC2 RefSeqGene	NG_052797.1:g.177098T>C

Gene: MAMDC2, MAM domain containing 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
MAMDC2 transcript variant 1	NM_153267.5:c.1652-2721T>A	N/A	Intron Variant
MAMDC2 transcript variant 3	NM_001347990.2:c.	N/A	Genic Downstream Transcript Variant
MAMDC2 transcript variant 2	NR_125850.1:n.	N/A	Intron Variant

Gene: SMC5-DT, SMC5 divergent transcript (minus strand) : 500B Downstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
SMC5-DT transcript	NR_039990.1:n.	N/A	Downstream 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	T=	A	C
GRCh38.p14 chr 9	NC_000009.12:g.70215616=	NC_000009.12:g.70215616T>A	NC_000009.12:g.70215616T>C
GRCh37.p13 chr 9	NC_000009.11:g.72830532=	NC_000009.11:g.72830532T>A	NC_000009.11:g.72830532T>C
MAMDC2 RefSeqGene	NG_052797.1:g.177098=	NG_052797.1:g.177098T>A	NG_052797.1:g.177098T>C
MAMDC2 transcript variant 1	NM_153267.4:c.1652-2721=	NM_153267.4:c.1652-2721T>A	NM_153267.4:c.1652-2721T>C
MAMDC2 transcript variant 1	NM_153267.5:c.1652-2721=	NM_153267.5:c.1652-2721T>A	NM_153267.5:c.1652-2721T>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#.

87 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCM_SSAHASNP	ss10518942	Jul 11, 2003 (116)
2	SC_SNP	ss16142515	Feb 27, 2004 (120)
3	CSHL-HAPMAP	ss17246210	Feb 27, 2004 (120)
4	CSHL-HAPMAP	ss17996271	Feb 27, 2004 (120)
5	SSAHASNP	ss22796821	Apr 05, 2004 (121)
6	PERLEGEN	ss24556036	Sep 20, 2004 (123)
7	ILLUMINA	ss65743728	Oct 14, 2006 (127)
8	ILLUMINA	ss74906571	Dec 07, 2007 (129)
9	BCMHGSC_JDW	ss94079356	Mar 25, 2008 (129)
10	HUMANGENOME_JCVI	ss97726588	Feb 04, 2009 (130)
11	BGI	ss105679380	Feb 04, 2009 (130)
12	1000GENOMES	ss108784696	Jan 23, 2009 (130)
13	1000GENOMES	ss114511143	Jan 25, 2009 (130)
14	KRIBB_YJKIM	ss119537616	Dec 01, 2009 (131)
15	ENSEMBL	ss134096420	Dec 01, 2009 (131)
16	ENSEMBL	ss144144481	Dec 01, 2009 (131)
17	GMI	ss157553973	Dec 01, 2009 (131)
18	COMPLETE_GENOMICS	ss164158747	Jul 04, 2010 (132)
19	COMPLETE_GENOMICS	ss165117487	Jul 04, 2010 (132)
20	COMPLETE_GENOMICS	ss166483442	Jul 04, 2010 (132)
21	ILLUMINA	ss174214145	Jul 04, 2010 (132)
22	BUSHMAN	ss200414770	Jul 04, 2010 (132)
23	BCM-HGSC-SUB	ss206641924	Jul 04, 2010 (132)
24	1000GENOMES	ss224252329	Jul 14, 2010 (132)
25	1000GENOMES	ss234821790	Jul 15, 2010 (132)
26	1000GENOMES	ss241596689	Jul 15, 2010 (132)
27	BL	ss254278510	May 09, 2011 (134)
28	GMI	ss280251260	May 04, 2012 (137)
29	GMI	ss286028921	Apr 25, 2013 (138)
30	PJP	ss294284354	May 09, 2011 (134)
31	ILLUMINA	ss537425421	Sep 08, 2015 (146)
32	TISHKOFF	ss561390592	Apr 25, 2013 (138)
33	SSMP	ss655876100	Apr 25, 2013 (138)
34	EVA-GONL	ss986578739	Aug 21, 2014 (142)
35	JMKIDD_LAB	ss1076309322	Aug 21, 2014 (142)
36	1000GENOMES	ss1333951601	Aug 21, 2014 (142)
37	DDI	ss1431844380	Apr 01, 2015 (144)
38	EVA_GENOME_DK	ss1583103149	Apr 01, 2015 (144)
39	EVA_DECODE	ss1596207671	Apr 01, 2015 (144)
40	EVA_UK10K_ALSPAC	ss1622754511	Apr 01, 2015 (144)
41	EVA_UK10K_TWINSUK	ss1665748544	Apr 01, 2015 (144)
42	EVA_SVP	ss1713109857	Apr 01, 2015 (144)
43	HAMMER_LAB	ss1805990452	Sep 08, 2015 (146)
44	WEILL_CORNELL_DGM	ss1929895663	Feb 12, 2016 (147)
45	GENOMED	ss1971217351	Jul 19, 2016 (147)
46	JJLAB	ss2025661399	Sep 14, 2016 (149)
47	USC_VALOUEV	ss2153885553	Dec 20, 2016 (150)
48	HUMAN_LONGEVITY	ss2311353686	Dec 20, 2016 (150)
49	SYSTEMSBIOZJU	ss2627298415	Nov 08, 2017 (151)
50	GRF	ss2709748398	Nov 08, 2017 (151)
51	GNOMAD	ss2878939569	Nov 08, 2017 (151)
52	SWEGEN	ss3004977438	Nov 08, 2017 (151)
53	BIOINF_KMB_FNS_UNIBA	ss3026611512	Nov 08, 2017 (151)
54	CSHL	ss3348679537	Nov 08, 2017 (151)
55	ILLUMINA	ss3630267759	Oct 12, 2018 (152)
56	ILLUMINA	ss3638814042	Oct 12, 2018 (152)
57	ILLUMINA	ss3643740826	Oct 12, 2018 (152)
58	URBANLAB	ss3649159644	Oct 12, 2018 (152)
59	EGCUT_WGS	ss3672512990	Jul 13, 2019 (153)
60	EVA_DECODE	ss3724006545	Jul 13, 2019 (153)
61	ACPOP	ss3736543655	Jul 13, 2019 (153)
62	EVA	ss3769221927	Jul 13, 2019 (153)
63	PACBIO	ss3786421778	Jul 13, 2019 (153)
64	PACBIO	ss3791637687	Jul 13, 2019 (153)
65	PACBIO	ss3796518989	Jul 13, 2019 (153)
66	KHV_HUMAN_GENOMES	ss3812391683	Jul 13, 2019 (153)
67	EVA	ss3831666279	Apr 26, 2020 (154)
68	EVA	ss3839359936	Apr 26, 2020 (154)
69	EVA	ss3844822500	Apr 26, 2020 (154)
70	SGDP_PRJ	ss3872284103	Apr 26, 2020 (154)
71	KRGDB	ss3920069486	Apr 26, 2020 (154)
72	KOGIC	ss3965994240	Apr 26, 2020 (154)
73	EVA	ss4017438617	Apr 26, 2021 (155)
74	TOPMED	ss4822321941	Apr 26, 2021 (155)
75	TOMMO_GENOMICS	ss5193590466	Apr 26, 2021 (155)
76	1000G_HIGH_COVERAGE	ss5280853707	Oct 13, 2022 (156)
77	EVA	ss5387853257	Oct 13, 2022 (156)
78	HUGCELL_USP	ss5476857462	Oct 13, 2022 (156)
79	EVA	ss5509715971	Oct 13, 2022 (156)
80	1000G_HIGH_COVERAGE	ss5573249839	Oct 13, 2022 (156)
81	SANFORD_IMAGENETICS	ss5647514220	Oct 13, 2022 (156)
82	TOMMO_GENOMICS	ss5737616167	Oct 13, 2022 (156)
83	YY_MCH	ss5810672144	Oct 13, 2022 (156)
84	EVA	ss5829226669	Oct 13, 2022 (156)
85	EVA	ss5856775410	Oct 13, 2022 (156)
86	EVA	ss5916511373	Oct 13, 2022 (156)
87	EVA	ss5976690073	Oct 13, 2022 (156)
88	1000Genomes	NC_000009.11 - 72830532	Oct 12, 2018 (152)
89	1000Genomes_30x	NC_000009.12 - 70215616	Oct 13, 2022 (156)
90	The Avon Longitudinal Study of Parents and Children	NC_000009.11 - 72830532	Oct 12, 2018 (152)
91	Genetic variation in the Estonian population	NC_000009.11 - 72830532	Oct 12, 2018 (152)
92	The Danish reference pan genome	NC_000009.11 - 72830532	Apr 26, 2020 (154)
93	gnomAD - Genomes Submission ignored due to conflicting rows: Row 326748086 (NC_000009.12:70215615:T:A 1/140210) Row 326748087 (NC_000009.12:70215615:T:C 110823/140174)	-	Apr 26, 2021 (155)
94	gnomAD - Genomes Submission ignored due to conflicting rows: Row 326748086 (NC_000009.12:70215615:T:A 1/140210) Row 326748087 (NC_000009.12:70215615:T:C 110823/140174)	-	Apr 26, 2021 (155)
95	Genome of the Netherlands Release 5	NC_000009.11 - 72830532	Apr 26, 2020 (154)
96	HapMap	NC_000009.12 - 70215616	Apr 26, 2020 (154)
97	KOREAN population from KRGDB	NC_000009.11 - 72830532	Apr 26, 2020 (154)
98	Korean Genome Project	NC_000009.12 - 70215616	Apr 26, 2020 (154)
99	Northern Sweden	NC_000009.11 - 72830532	Jul 13, 2019 (153)
100	Qatari	NC_000009.11 - 72830532	Apr 26, 2020 (154)
101	SGDP_PRJ	NC_000009.11 - 72830532	Apr 26, 2020 (154)
102	Siberian	NC_000009.11 - 72830532	Apr 26, 2020 (154)
103	8.3KJPN	NC_000009.11 - 72830532	Apr 26, 2021 (155)
104	14KJPN	NC_000009.12 - 70215616	Oct 13, 2022 (156)
105	TopMed	NC_000009.12 - 70215616	Apr 26, 2021 (155)
106	UK 10K study - Twins	NC_000009.11 - 72830532	Oct 12, 2018 (152)
107	A Vietnamese Genetic Variation Database	NC_000009.11 - 72830532	Jul 13, 2019 (153)
108	ALFA	NC_000009.12 - 70215616	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)
rs17526932	Oct 08, 2004 (123)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
27246880, ss3920069486	NC_000009.11:72830531:T:A	NC_000009.12:70215615:T:A	(self)
12762606833	NC_000009.12:70215615:T:A	NC_000009.12:70215615:T:A	(self)
ss94079356, ss108784696, ss114511143, ss164158747, ss165117487, ss166483442, ss200414770, ss206641924, ss254278510, ss280251260, ss286028921, ss294284354, ss1596207671, ss1713109857, ss3643740826	NC_000009.10:72020351:T:C	NC_000009.12:70215615:T:C	(self)
46214167, 25659744, 18251238, 9268086, 11454663, 27246880, 9828520, 11937593, 24301083, 6401907, 51559773, 25659744, 5702378, ss224252329, ss234821790, ss241596689, ss537425421, ss561390592, ss655876100, ss986578739, ss1076309322, ss1333951601, ss1431844380, ss1583103149, ss1622754511, ss1665748544, ss1805990452, ss1929895663, ss1971217351, ss2025661399, ss2153885553, ss2627298415, ss2709748398, ss2878939569, ss3004977438, ss3348679537, ss3630267759, ss3638814042, ss3672512990, ss3736543655, ss3769221927, ss3786421778, ss3791637687, ss3796518989, ss3831666279, ss3839359936, ss3872284103, ss3920069486, ss4017438617, ss5193590466, ss5387853257, ss5509715971, ss5647514220, ss5829226669, ss5976690073	NC_000009.11:72830531:T:C	NC_000009.12:70215615:T:C	(self)
60775774, 3833672, 22372241, 71453271, 659699502, 12762606833, ss2311353686, ss3026611512, ss3649159644, ss3724006545, ss3812391683, ss3844822500, ss3965994240, ss4822321941, ss5280853707, ss5476857462, ss5573249839, ss5737616167, ss5810672144, ss5856775410, ss5916511373	NC_000009.12:70215615:T:C	NC_000009.12:70215615:T:C	(self)
ss24556036, ss65743728, ss74906571, ss97726588, ss105679380, ss119537616, ss134096420, ss144144481, ss157553973, ss174214145	NT_008470.19:1995063:T:C	NC_000009.12:70215615:T:C	(self)
ss10518942	NT_023935.15:1995063:T:C	NC_000009.12:70215615:T:C	(self)
ss16142515, ss17246210, ss17996271, ss22796821	NT_023935.16:1995063:T:C	NC_000009.12:70215615:T: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 rs7034322

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

rs7034322