Name: rs6647
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.

rs6647

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr14:94381078 (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: A>G
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.218498 (69457/317884, ALFA)
G=0.299074 (79162/264690, TOPMED)
G=0.209543 (52480/250450, GnomAD_exome) (+ 20 more)
G=0.312779 (43557/139258, GnomAD)
G=0.221451 (26734/120722, ExAC)
G=0.31487 (24778/78694, PAGE_STUDY)
G=0.00495 (140/28258, 14KJPN)
G=0.00436 (73/16760, 8.3KJPN)
G=0.2600 (1665/6404, 1000G_30x)
G=0.2494 (1249/5008, 1000G)
G=0.2096 (939/4480, Estonian)
G=0.2172 (837/3854, ALSPAC)
G=0.2246 (833/3708, TWINSUK)
G=0.0113 (33/2922, KOREAN)
G=0.3053 (577/1890, HapMap)
G=0.240 (240/998, GoNL)
G=0.292 (175/600, NorthernSweden)
G=0.137 (73/534, MGP)
G=0.307 (92/300, FINRISK)
G=0.157 (34/216, Qatari)
A=0.434 (59/136, SGDP_PRJ)
G=0.23 (9/40, GENOME_DK)
A=0.4 (4/10, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: SERPINA1 : Missense Variant
Publications: 11 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	334224	A=0.776560	G=0.223440
European	Sub	284056	A=0.789200	G=0.210800
African	Sub	16138	A=0.45625	G=0.54375
African Others	Sub	572	A=0.395	G=0.605
African American	Sub	15566	A=0.45850	G=0.54150
Asian	Sub	3952	A=0.9828	G=0.0172
East Asian	Sub	3164	A=0.9893	G=0.0107
Other Asian	Sub	788	A=0.957	G=0.043
Latin American 1	Sub	1392	A=0.6997	G=0.3003
Latin American 2	Sub	6666	A=0.9034	G=0.0966
South Asian	Sub	366	A=0.828	G=0.172
Other	Sub	21654	A=0.77685	G=0.22315

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	317884	A=0.781502	G=0.218498
Allele Frequency Aggregator	European	Sub	274000	A=0.789339	G=0.210661
Allele Frequency Aggregator	Other	Sub	20208	A=0.77989	G=0.22011
Allele Frequency Aggregator	African	Sub	11300	A=0.46062	G=0.53938
Allele Frequency Aggregator	Latin American 2	Sub	6666	A=0.9034	G=0.0966
Allele Frequency Aggregator	Asian	Sub	3952	A=0.9828	G=0.0172
Allele Frequency Aggregator	Latin American 1	Sub	1392	A=0.6997	G=0.3003
Allele Frequency Aggregator	South Asian	Sub	366	A=0.828	G=0.172
TopMed	Global	Study-wide	264690	A=0.700926	G=0.299074
gnomAD - Exomes	Global	Study-wide	250450	A=0.790457	G=0.209543
gnomAD - Exomes	European	Sub	134588	A=0.769519	G=0.230481
gnomAD - Exomes	Asian	Sub	48968	A=0.89209	G=0.10791
gnomAD - Exomes	American	Sub	34554	A=0.90592	G=0.09408
gnomAD - Exomes	African	Sub	16164	A=0.44154	G=0.55846
gnomAD - Exomes	Ashkenazi Jewish	Sub	10056	A=0.74115	G=0.25885
gnomAD - Exomes	Other	Sub	6120	A=0.7884	G=0.2116
gnomAD - Genomes	Global	Study-wide	139258	A=0.687221	G=0.312779
gnomAD - Genomes	European	Sub	75620	A=0.77347	G=0.22653
gnomAD - Genomes	African	Sub	41452	A=0.45026	G=0.54974
gnomAD - Genomes	American	Sub	13596	A=0.84209	G=0.15791
gnomAD - Genomes	Ashkenazi Jewish	Sub	3322	A=0.7378	G=0.2622
gnomAD - Genomes	East Asian	Sub	3126	A=0.9757	G=0.0243
gnomAD - Genomes	Other	Sub	2142	A=0.7456	G=0.2544
ExAC	Global	Study-wide	120722	A=0.778549	G=0.221451
ExAC	Europe	Sub	72952	A=0.76777	G=0.23223
ExAC	Asian	Sub	25058	A=0.88698	G=0.11302
ExAC	American	Sub	11496	A=0.91023	G=0.08977
ExAC	African	Sub	10316	A=0.44378	G=0.55622
ExAC	Other	Sub	900	A=0.789	G=0.211
The PAGE Study	Global	Study-wide	78694	A=0.68513	G=0.31487
The PAGE Study	AfricanAmerican	Sub	32512	A=0.46041	G=0.53959
The PAGE Study	Mexican	Sub	10810	A=0.88973	G=0.11027
The PAGE Study	Asian	Sub	8316	A=0.9882	G=0.0118
The PAGE Study	PuertoRican	Sub	7916	A=0.7519	G=0.2481
The PAGE Study	NativeHawaiian	Sub	4534	A=0.8423	G=0.1577
The PAGE Study	Cuban	Sub	4230	A=0.7721	G=0.2279
The PAGE Study	Dominican	Sub	3828	A=0.6787	G=0.3213
The PAGE Study	CentralAmerican	Sub	2450	A=0.8396	G=0.1604
The PAGE Study	SouthAmerican	Sub	1982	A=0.8673	G=0.1327
The PAGE Study	NativeAmerican	Sub	1260	A=0.7706	G=0.2294
The PAGE Study	SouthAsian	Sub	856	A=0.852	G=0.148
14KJPN	JAPANESE	Study-wide	28258	A=0.99505	G=0.00495
8.3KJPN	JAPANESE	Study-wide	16760	A=0.99564	G=0.00436
1000Genomes_30x	Global	Study-wide	6404	A=0.7400	G=0.2600
1000Genomes_30x	African	Sub	1786	A=0.3903	G=0.6097
1000Genomes_30x	Europe	Sub	1266	A=0.8025	G=0.1975
1000Genomes_30x	South Asian	Sub	1202	A=0.8444	G=0.1556
1000Genomes_30x	East Asian	Sub	1170	A=0.9795	G=0.0205
1000Genomes_30x	American	Sub	980	A=0.883	G=0.117
1000Genomes	Global	Study-wide	5008	A=0.7506	G=0.2494
1000Genomes	African	Sub	1322	A=0.3926	G=0.6074
1000Genomes	East Asian	Sub	1008	A=0.9782	G=0.0218
1000Genomes	Europe	Sub	1006	A=0.8042	G=0.1958
1000Genomes	South Asian	Sub	978	A=0.850	G=0.150
1000Genomes	American	Sub	694	A=0.885	G=0.115
Genetic variation in the Estonian population	Estonian	Study-wide	4480	A=0.7904	G=0.2096
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	A=0.7828	G=0.2172
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	A=0.7754	G=0.2246
KOREAN population from KRGDB	KOREAN	Study-wide	2922	A=0.9887	G=0.0113
HapMap	Global	Study-wide	1890	A=0.6947	G=0.3053
HapMap	American	Sub	768	A=0.812	G=0.188
HapMap	African	Sub	692	A=0.415	G=0.585
HapMap	Asian	Sub	254	A=0.984	G=0.016
HapMap	Europe	Sub	176	A=0.864	G=0.136
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	A=0.760	G=0.240
Northern Sweden	ACPOP	Study-wide	600	A=0.708	G=0.292
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	A=0.863	G=0.137
FINRISK	Finnish from FINRISK project	Study-wide	300	A=0.693	G=0.307
Qatari	Global	Study-wide	216	A=0.843	G=0.157
SGDP_PRJ	Global	Study-wide	136	A=0.434	G=0.566
The Danish reference pan genome	Danish	Study-wide	40	A=0.78	G=0.23
Siberian	Global	Study-wide	10	A=0.4	G=0.6

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 14	NC_000014.9:g.94381078A>G
GRCh37.p13 chr 14	NC_000014.8:g.94847415A>G
SERPINA1 RefSeqGene (LRG_575)	NG_008290.1:g.14615T>C
GRCh38.p14 chr 14 alt locus HSCHR14_7_CTG1	NT_187601.1:g.1497650G>A

Gene: SERPINA1, serpin family A member 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SERPINA1 transcript variant 7	NM_001127703.2:c.710T>C	V [GTG] > A [GCG]	Coding Sequence Variant
alpha-1-antitrypsin precursor	NP_001121175.1:p.Val237Ala	V (Val) > A (Ala)	Missense Variant
SERPINA1 transcript variant 9	NM_001127705.2:c.710T>C	V [GTG] > A [GCG]	Coding Sequence Variant
alpha-1-antitrypsin precursor	NP_001121177.1:p.Val237Ala	V (Val) > A (Ala)	Missense Variant
SERPINA1 transcript variant 3	NM_001002235.3:c.710T>C	V [GTG] > A [GCG]	Coding Sequence Variant
alpha-1-antitrypsin precursor	NP_001002235.1:p.Val237Ala	V (Val) > A (Ala)	Missense Variant
SERPINA1 transcript variant 2	NM_001002236.3:c.710T>C	V [GTG] > A [GCG]	Coding Sequence Variant
alpha-1-antitrypsin precursor	NP_001002236.1:p.Val237Ala	V (Val) > A (Ala)	Missense Variant
SERPINA1 transcript variant 10	NM_001127706.2:c.710T>C	V [GTG] > A [GCG]	Coding Sequence Variant
alpha-1-antitrypsin precursor	NP_001121178.1:p.Val237Ala	V (Val) > A (Ala)	Missense Variant
SERPINA1 transcript variant 11	NM_001127707.2:c.710T>C	V [GTG] > A [GCG]	Coding Sequence Variant
alpha-1-antitrypsin precursor	NP_001121179.1:p.Val237Ala	V (Val) > A (Ala)	Missense Variant
SERPINA1 transcript variant 8	NM_001127704.2:c.710T>C	V [GTG] > A [GCG]	Coding Sequence Variant
alpha-1-antitrypsin precursor	NP_001121176.1:p.Val237Ala	V (Val) > A (Ala)	Missense Variant
SERPINA1 transcript variant 1	NM_000295.5:c.710T>C	V [GTG] > A [GCG]	Coding Sequence Variant
alpha-1-antitrypsin precursor	NP_000286.3:p.Val237Ala	V (Val) > A (Ala)	Missense Variant
SERPINA1 transcript variant 5	NM_001127701.2:c.710T>C	V [GTG] > A [GCG]	Coding Sequence Variant
alpha-1-antitrypsin precursor	NP_001121173.1:p.Val237Ala	V (Val) > A (Ala)	Missense Variant
SERPINA1 transcript variant 6	NM_001127702.2:c.710T>C	V [GTG] > A [GCG]	Coding Sequence Variant
alpha-1-antitrypsin precursor	NP_001121174.1:p.Val237Ala	V (Val) > A (Ala)	Missense Variant
SERPINA1 transcript variant 4	NM_001127700.2:c.710T>C	V [GTG] > A [GCG]	Coding Sequence Variant
alpha-1-antitrypsin precursor	NP_001121172.1:p.Val237Ala	V (Val) > A (Ala)	Missense Variant
SERPINA1 transcript variant X1	XM_047431478.1:c.710T>C	V [GTG] > A [GCG]	Coding Sequence Variant
alpha-1-antitrypsin isoform X1	XP_047287434.1:p.Val237Ala	V (Val) > A (Ala)	Missense Variant
SERPINA1 transcript variant X2	XM_047431479.1:c.710T>C	V [GTG] > A [GCG]	Coding Sequence Variant
alpha-1-antitrypsin isoform X1	XP_047287435.1:p.Val237Ala	V (Val) > A (Ala)	Missense Variant
SERPINA1 transcript variant X3	XM_017021370.2:c.710T>C	V [GTG] > A [GCG]	Coding Sequence Variant
alpha-1-antitrypsin isoform X1	XP_016876859.1:p.Val237Ala	V (Val) > A (Ala)	Missense 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.

Allele: A= (allele ID: 32995 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000019555.4	PI M1-ALA213	Benign
RCV000019556.29	PI, M1V	Benign

Allele: G (allele ID: 32994 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000019553.5	PI M1-ALA213	Benign
RCV000019554.30	PI, M1A	Benign
RCV000151834.10	not specified	Benign
RCV000406073.10	Alpha-1-antitrypsin deficiency	Benign
RCV001701482.1	not provided	Likely-Benign

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=	G
GRCh38.p14 chr 14	NC_000014.9:g.94381078=	NC_000014.9:g.94381078A>G
GRCh37.p13 chr 14	NC_000014.8:g.94847415=	NC_000014.8:g.94847415A>G
SERPINA1 RefSeqGene (LRG_575)	NG_008290.1:g.14615=	NG_008290.1:g.14615T>C
SERPINA1 transcript variant 1	NM_000295.5:c.710=	NM_000295.5:c.710T>C
SERPINA1 transcript variant 1	NM_000295.4:c.710=	NM_000295.4:c.710T>C
SERPINA1 transcript variant 2	NM_001002236.3:c.710=	NM_001002236.3:c.710T>C
SERPINA1 transcript variant 2	NM_001002236.2:c.710=	NM_001002236.2:c.710T>C
SERPINA1 transcript variant 3	NM_001002235.3:c.710=	NM_001002235.3:c.710T>C
SERPINA1 transcript variant 3	NM_001002235.2:c.710=	NM_001002235.2:c.710T>C
SERPINA1 transcript variant 5	NM_001127701.2:c.710=	NM_001127701.2:c.710T>C
SERPINA1 transcript variant 5	NM_001127701.1:c.710=	NM_001127701.1:c.710T>C
SERPINA1 transcript variant 9	NM_001127705.2:c.710=	NM_001127705.2:c.710T>C
SERPINA1 transcript variant 9	NM_001127705.1:c.710=	NM_001127705.1:c.710T>C
SERPINA1 transcript variant 7	NM_001127703.2:c.710=	NM_001127703.2:c.710T>C
SERPINA1 transcript variant 7	NM_001127703.1:c.710=	NM_001127703.1:c.710T>C
SERPINA1 transcript variant 8	NM_001127704.2:c.710=	NM_001127704.2:c.710T>C
SERPINA1 transcript variant 8	NM_001127704.1:c.710=	NM_001127704.1:c.710T>C
SERPINA1 transcript variant 6	NM_001127702.2:c.710=	NM_001127702.2:c.710T>C
SERPINA1 transcript variant 6	NM_001127702.1:c.710=	NM_001127702.1:c.710T>C
SERPINA1 transcript variant 10	NM_001127706.2:c.710=	NM_001127706.2:c.710T>C
SERPINA1 transcript variant 10	NM_001127706.1:c.710=	NM_001127706.1:c.710T>C
SERPINA1 transcript variant 11	NM_001127707.2:c.710=	NM_001127707.2:c.710T>C
SERPINA1 transcript variant 11	NM_001127707.1:c.710=	NM_001127707.1:c.710T>C
SERPINA1 transcript variant 4	NM_001127700.2:c.710=	NM_001127700.2:c.710T>C
SERPINA1 transcript variant 4	NM_001127700.1:c.710=	NM_001127700.1:c.710T>C
GRCh38.p14 chr 14 alt locus HSCHR14_7_CTG1	NT_187601.1:g.1497650G>A	NT_187601.1:g.1497650=
SERPINA1 transcript variant X3	XM_017021370.2:c.710=	XM_017021370.2:c.710T>C
SERPINA1 transcript variant X1	XM_017021370.1:c.710=	XM_017021370.1:c.710T>C
SERPINA1 transcript variant X2	XM_047431479.1:c.710=	XM_047431479.1:c.710T>C
SERPINA1 transcript variant X1	XM_047431478.1:c.710=	XM_047431478.1:c.710T>C
alpha-1-antitrypsin precursor	NP_000286.3:p.Val237=	NP_000286.3:p.Val237Ala
alpha-1-antitrypsin precursor	NP_001002236.1:p.Val237=	NP_001002236.1:p.Val237Ala
alpha-1-antitrypsin precursor	NP_001002235.1:p.Val237=	NP_001002235.1:p.Val237Ala
alpha-1-antitrypsin precursor	NP_001121173.1:p.Val237=	NP_001121173.1:p.Val237Ala
alpha-1-antitrypsin precursor	NP_001121177.1:p.Val237=	NP_001121177.1:p.Val237Ala
alpha-1-antitrypsin precursor	NP_001121175.1:p.Val237=	NP_001121175.1:p.Val237Ala
alpha-1-antitrypsin precursor	NP_001121176.1:p.Val237=	NP_001121176.1:p.Val237Ala
alpha-1-antitrypsin precursor	NP_001121174.1:p.Val237=	NP_001121174.1:p.Val237Ala
alpha-1-antitrypsin precursor	NP_001121178.1:p.Val237=	NP_001121178.1:p.Val237Ala
alpha-1-antitrypsin precursor	NP_001121179.1:p.Val237=	NP_001121179.1:p.Val237Ala
alpha-1-antitrypsin precursor	NP_001121172.1:p.Val237=	NP_001121172.1:p.Val237Ala
alpha-1-antitrypsin isoform X1	XP_016876859.1:p.Val237=	XP_016876859.1:p.Val237Ala
alpha-1-antitrypsin isoform X1	XP_047287435.1:p.Val237=	XP_047287435.1:p.Val237Ala
alpha-1-antitrypsin isoform X1	XP_047287434.1:p.Val237=	XP_047287434.1:p.Val237Ala

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#.

167 SubSNP, 25 Frequency, 7 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	LEE	ss1523459	Oct 05, 2000 (92)
2	KWOK	ss1875346	Oct 18, 2000 (92)
3	SC_JCM	ss3881968	Sep 28, 2001 (100)
4	LEE	ss4414578	May 29, 2002 (106)
5	CGAP-GAI	ss16265152	Feb 27, 2004 (120)
6	SSAHASNP	ss21226833	Apr 05, 2004 (121)
7	PERLEGEN	ss23648078	Sep 20, 2004 (123)
8	MGC_GENOME_DIFF	ss28510791	Sep 24, 2004 (126)
9	ABI	ss40415692	Mar 10, 2006 (126)
10	APPLERA_GI	ss48420220	Mar 10, 2006 (126)
11	ILLUMINA	ss65728926	Oct 14, 2006 (127)
12	PERLEGEN	ss69166928	May 16, 2007 (127)
13	SI_EXO	ss71643946	May 16, 2007 (127)
14	AFFY	ss74805898	Aug 16, 2007 (128)
15	ILLUMINA	ss74857874	Dec 07, 2007 (129)
16	CGM_KYOTO	ss76867519	Dec 07, 2007 (129)
17	HGSV	ss84091911	Dec 14, 2007 (130)
18	CANCER-GENOME	ss86348464	Mar 23, 2008 (129)
19	HUMANGENOME_JCVI	ss96937975	Feb 04, 2009 (130)
20	SNP500CANCER	ss105435603	Feb 04, 2009 (130)
21	1000GENOMES	ss113735834	Jan 25, 2009 (130)
22	ILLUMINA-UK	ss118713177	Feb 14, 2009 (130)
23	ILLUMINA	ss120036973	Dec 01, 2009 (131)
24	ENSEMBL	ss132358496	Dec 01, 2009 (131)
25	SEATTLESEQ	ss159729911	Dec 01, 2009 (131)
26	ILLUMINA	ss160794057	Dec 01, 2009 (131)
27	COMPLETE_GENOMICS	ss168532300	Jul 04, 2010 (132)
28	COMPLETE_GENOMICS	ss170412209	Jul 04, 2010 (132)
29	COMPLETE_GENOMICS	ss171529018	Jul 04, 2010 (132)
30	ILLUMINA	ss174054976	Jul 04, 2010 (132)
31	BUSHMAN	ss200440576	Jul 04, 2010 (132)
32	BCM-HGSC-SUB	ss207096764	Jul 04, 2010 (132)
33	1000GENOMES	ss226730402	Jul 14, 2010 (132)
34	1000GENOMES	ss236660491	Jul 15, 2010 (132)
35	OMICIA	ss244239326	Aug 29, 2012 (137)
36	ILLUMINA	ss244305737	Jul 04, 2010 (132)
37	BL	ss255212795	May 09, 2011 (134)
38	OMIM-CURATED-RECORDS	ss275513925	Nov 22, 2010 (133)
39	PJP	ss291656454	May 09, 2011 (134)
40	NHLBI-ESP	ss342395158	May 09, 2011 (134)
41	ILLUMINA	ss481305104	May 04, 2012 (137)
42	ILLUMINA	ss481330072	May 04, 2012 (137)
43	ILLUMINA	ss482312447	Sep 08, 2015 (146)
44	ILLUMINA	ss485447777	May 04, 2012 (137)
45	1000GENOMES	ss491075290	May 04, 2012 (137)
46	EXOME_CHIP	ss491489075	May 04, 2012 (137)
47	CLINSEQ_SNP	ss491692505	May 04, 2012 (137)
48	ILLUMINA	ss537373733	Sep 08, 2015 (146)
49	TISHKOFF	ss564282309	Apr 25, 2013 (138)
50	SSMP	ss659978815	Apr 25, 2013 (138)
51	ILLUMINA	ss778575078	Aug 21, 2014 (142)
52	ILLUMINA	ss780704520	Aug 21, 2014 (142)
53	ILLUMINA	ss783169335	Sep 08, 2015 (146)
54	ILLUMINA	ss783378947	Aug 21, 2014 (142)
55	ILLUMINA	ss784124914	Aug 21, 2014 (142)
56	ILLUMINA	ss832428854	Sep 08, 2015 (146)
57	ILLUMINA	ss834032144	Aug 21, 2014 (142)
58	JMKIDD_LAB	ss974489715	Aug 21, 2014 (142)
59	EVA-GONL	ss991464743	Aug 21, 2014 (142)
60	JMKIDD_LAB	ss1067548326	Aug 21, 2014 (142)
61	JMKIDD_LAB	ss1079895250	Aug 21, 2014 (142)
62	1000GENOMES	ss1352207516	Aug 21, 2014 (142)
63	EVA_GENOME_DK	ss1577440406	Apr 01, 2015 (144)
64	EVA_FINRISK	ss1584091581	Apr 01, 2015 (144)
65	EVA_UK10K_ALSPAC	ss1632384265	Apr 01, 2015 (144)
66	EVA_UK10K_TWINSUK	ss1675378298	Apr 01, 2015 (144)
67	EVA_EXAC	ss1691612084	Apr 01, 2015 (144)
68	EVA_DECODE	ss1695479545	Apr 01, 2015 (144)
69	EVA_MGP	ss1711381928	Apr 01, 2015 (144)
70	EVA_SVP	ss1713467743	Apr 01, 2015 (144)
71	ILLUMINA	ss1752148915	Sep 08, 2015 (146)
72	ILLUMINA	ss1752148916	Sep 08, 2015 (146)
73	HAMMER_LAB	ss1808054263	Sep 08, 2015 (146)
74	ILLUMINA	ss1917892173	Feb 12, 2016 (147)
75	WEILL_CORNELL_DGM	ss1934835272	Feb 12, 2016 (147)
76	ILLUMINA	ss1946384962	Feb 12, 2016 (147)
77	ILLUMINA	ss1946384963	Feb 12, 2016 (147)
78	ILLUMINA	ss1959578859	Feb 12, 2016 (147)
79	ILLUMINA	ss1959578860	Feb 12, 2016 (147)
80	AMU	ss1966652235	Feb 12, 2016 (147)
81	JJLAB	ss2028201772	Sep 14, 2016 (149)
82	USC_VALOUEV	ss2156585874	Dec 20, 2016 (150)
83	HUMAN_LONGEVITY	ss2204475991	Dec 20, 2016 (150)
84	ILLUMINA	ss2633190661	Nov 08, 2017 (151)
85	ILLUMINA	ss2710808615	Nov 08, 2017 (151)
86	GNOMAD	ss2740918151	Nov 08, 2017 (151)
87	GNOMAD	ss2749197696	Nov 08, 2017 (151)
88	AFFY	ss2985030367	Nov 08, 2017 (151)
89	AFFY	ss2985662293	Nov 08, 2017 (151)
90	SWEGEN	ss3012692641	Nov 08, 2017 (151)
91	ILLUMINA	ss3021596401	Nov 08, 2017 (151)
92	ILLUMINA	ss3021596402	Nov 08, 2017 (151)
93	BIOINF_KMB_FNS_UNIBA	ss3027928563	Nov 08, 2017 (151)
94	CSHL	ss3350947696	Nov 08, 2017 (151)
95	ILLUMINA	ss3625665743	Oct 12, 2018 (152)
96	ILLUMINA	ss3627290645	Oct 12, 2018 (152)
97	ILLUMINA	ss3627290646	Oct 12, 2018 (152)
98	ILLUMINA	ss3631186447	Oct 12, 2018 (152)
99	ILLUMINA	ss3633086898	Oct 12, 2018 (152)
100	ILLUMINA	ss3633790824	Oct 12, 2018 (152)
101	ILLUMINA	ss3634591361	Oct 12, 2018 (152)
102	ILLUMINA	ss3634591362	Oct 12, 2018 (152)
103	ILLUMINA	ss3635480056	Oct 12, 2018 (152)
104	ILLUMINA	ss3636280773	Oct 12, 2018 (152)
105	ILLUMINA	ss3637231250	Oct 12, 2018 (152)
106	ILLUMINA	ss3638067883	Oct 12, 2018 (152)
107	ILLUMINA	ss3640298688	Oct 12, 2018 (152)
108	ILLUMINA	ss3640298689	Oct 12, 2018 (152)
109	ILLUMINA	ss3643053335	Oct 12, 2018 (152)
110	ILLUMINA	ss3644638123	Oct 12, 2018 (152)
111	ILLUMINA	ss3644638124	Oct 12, 2018 (152)
112	OMUKHERJEE_ADBS	ss3646464294	Oct 12, 2018 (152)
113	URBANLAB	ss3650268459	Oct 12, 2018 (152)
114	ILLUMINA	ss3651994278	Oct 12, 2018 (152)
115	ILLUMINA	ss3651994279	Oct 12, 2018 (152)
116	ILLUMINA	ss3653801917	Oct 12, 2018 (152)
117	EGCUT_WGS	ss3679957815	Jul 13, 2019 (153)
118	EVA_DECODE	ss3697278341	Jul 13, 2019 (153)
119	ILLUMINA	ss3725472900	Jul 13, 2019 (153)
120	ACPOP	ss3740650182	Jul 13, 2019 (153)
121	ILLUMINA	ss3744126711	Jul 13, 2019 (153)
122	ILLUMINA	ss3744415582	Jul 13, 2019 (153)
123	ILLUMINA	ss3744891960	Jul 13, 2019 (153)
124	ILLUMINA	ss3744891961	Jul 13, 2019 (153)
125	EVA	ss3752697657	Jul 13, 2019 (153)
126	PAGE_CC	ss3771809263	Jul 13, 2019 (153)
127	ILLUMINA	ss3772390715	Jul 13, 2019 (153)
128	ILLUMINA	ss3772390716	Jul 13, 2019 (153)
129	KHV_HUMAN_GENOMES	ss3818022220	Jul 13, 2019 (153)
130	EVA	ss3824877526	Apr 27, 2020 (154)
131	EVA	ss3825851407	Apr 27, 2020 (154)
132	EVA	ss3834075596	Apr 27, 2020 (154)
133	SGDP_PRJ	ss3882140362	Apr 27, 2020 (154)
134	KRGDB	ss3931222937	Apr 27, 2020 (154)
135	FSA-LAB	ss3984062707	Apr 26, 2021 (155)
136	EVA	ss3984696403	Apr 26, 2021 (155)
137	EVA	ss3984696404	Apr 26, 2021 (155)
138	EVA	ss3986629976	Apr 26, 2021 (155)
139	EVA	ss4017686279	Apr 26, 2021 (155)
140	VINODS	ss4031549012	Apr 26, 2021 (155)
141	TOPMED	ss4980984460	Apr 26, 2021 (155)
142	EVA	ss5141982733	Apr 26, 2021 (155)
143	TOMMO_GENOMICS	ss5214594984	Apr 26, 2021 (155)
144	EVA	ss5236919705	Apr 26, 2021 (155)
145	EVA	ss5237227740	Apr 26, 2021 (155)
146	EVA	ss5237663154	Oct 16, 2022 (156)
147	1000G_HIGH_COVERAGE	ss5297279504	Oct 16, 2022 (156)
148	TRAN_CS_UWATERLOO	ss5314439932	Oct 16, 2022 (156)
149	EVA	ss5315760634	Oct 16, 2022 (156)
150	EVA	ss5417188075	Oct 16, 2022 (156)
151	HUGCELL_USP	ss5491224177	Oct 16, 2022 (156)
152	EVA	ss5511348967	Oct 16, 2022 (156)
153	1000G_HIGH_COVERAGE	ss5598091954	Oct 16, 2022 (156)
154	EVA	ss5624048162	Oct 16, 2022 (156)
155	SANFORD_IMAGENETICS	ss5624352156	Oct 16, 2022 (156)
156	SANFORD_IMAGENETICS	ss5656819909	Oct 16, 2022 (156)
157	TOMMO_GENOMICS	ss5767790121	Oct 16, 2022 (156)
158	EVA	ss5799928892	Oct 16, 2022 (156)
159	YY_MCH	ss5815014422	Oct 16, 2022 (156)
160	EVA	ss5841528150	Oct 16, 2022 (156)
161	EVA	ss5847442891	Oct 16, 2022 (156)
162	EVA	ss5847731380	Oct 16, 2022 (156)
163	EVA	ss5848391352	Oct 16, 2022 (156)
164	EVA	ss5902558410	Oct 16, 2022 (156)
165	EVA	ss5936558340	Oct 16, 2022 (156)
166	EVA	ss5948284565	Oct 16, 2022 (156)
167	EVA	ss5979450613	Oct 16, 2022 (156)
168	1000Genomes	NC_000014.8 - 94847415	Oct 12, 2018 (152)
169	1000Genomes_30x	NC_000014.9 - 94381078	Oct 16, 2022 (156)
170	The Avon Longitudinal Study of Parents and Children	NC_000014.8 - 94847415	Oct 12, 2018 (152)
171	Genetic variation in the Estonian population	NC_000014.8 - 94847415	Oct 12, 2018 (152)
172	ExAC	NC_000014.8 - 94847415	Oct 12, 2018 (152)
173	FINRISK	NC_000014.8 - 94847415	Apr 27, 2020 (154)
174	The Danish reference pan genome	NC_000014.8 - 94847415	Apr 27, 2020 (154)
175	gnomAD - Genomes	NC_000014.9 - 94381078	Apr 26, 2021 (155)
176	gnomAD - Exomes	NC_000014.8 - 94847415	Jul 13, 2019 (153)
177	Genome of the Netherlands Release 5	NC_000014.8 - 94847415	Apr 27, 2020 (154)
178	HapMap	NC_000014.9 - 94381078	Apr 27, 2020 (154)
179	KOREAN population from KRGDB	NC_000014.8 - 94847415	Apr 27, 2020 (154)
180	Medical Genome Project healthy controls from Spanish population	NC_000014.8 - 94847415	Apr 27, 2020 (154)
181	Northern Sweden	NC_000014.8 - 94847415	Jul 13, 2019 (153)
182	The PAGE Study	NC_000014.9 - 94381078	Jul 13, 2019 (153)
183	CNV burdens in cranial meningiomas Submission ignored due to conflicting rows: Row 245921 (NC_000014.8:94847414:A:G 28/788) Row 245922 (NC_000014.8:94847414:A:G 30/790)	-	Apr 26, 2021 (155)
184	CNV burdens in cranial meningiomas Submission ignored due to conflicting rows: Row 245921 (NC_000014.8:94847414:A:G 28/788) Row 245922 (NC_000014.8:94847414:A:G 30/790)	-	Apr 26, 2021 (155)
185	Qatari	NC_000014.8 - 94847415	Apr 27, 2020 (154)
186	SGDP_PRJ	NC_000014.8 - 94847415	Apr 27, 2020 (154)
187	Siberian	NC_000014.8 - 94847415	Apr 27, 2020 (154)
188	8.3KJPN	NC_000014.8 - 94847415	Apr 26, 2021 (155)
189	14KJPN	NC_000014.9 - 94381078	Oct 16, 2022 (156)
190	TopMed	NC_000014.9 - 94381078	Apr 26, 2021 (155)
191	UK 10K study - Twins	NC_000014.8 - 94847415	Oct 12, 2018 (152)
192	ALFA	NC_000014.9 - 94381078	Apr 26, 2021 (155)
193	ClinVar	RCV000019553.5	Oct 16, 2022 (156)
194	ClinVar	RCV000019554.30	Oct 16, 2022 (156)
195	ClinVar	RCV000019555.4	Oct 16, 2022 (156)
196	ClinVar	RCV000019556.29	Oct 16, 2022 (156)
197	ClinVar	RCV000151834.10	Oct 16, 2022 (156)
198	ClinVar	RCV000406073.10	Oct 16, 2022 (156)
199	ClinVar	RCV001701482.1	Oct 16, 2022 (156)

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)
rs17581	Sep 19, 2000 (85)
rs1049594	Jan 18, 2001 (92)
rs3189781	Jul 03, 2002 (106)
rs17856489	Mar 10, 2006 (126)
rs52795319	Sep 21, 2007 (128)
rs57059392	May 23, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss84091911, ss113735834, ss118713177, ss160794057, ss168532300, ss170412209, ss171529018, ss200440576, ss207096764, ss244305737, ss255212795, ss291656454, ss481305104, ss491692505, ss1695479545, ss1713467743, ss3643053335	NC_000014.7:93917167:A:G	NC_000014.9:94381077:A:G	(self)
65233967, 36259052, 25696063, 1968084, 88042, 3729695, 10176357, 16187082, 38400331, 497688, 13935047, 16877202, 34157342, 9102228, 72564291, 36259052, ss226730402, ss236660491, ss342395158, ss481330072, ss482312447, ss485447777, ss491075290, ss491489075, ss537373733, ss564282309, ss659978815, ss778575078, ss780704520, ss783169335, ss783378947, ss784124914, ss832428854, ss834032144, ss974489715, ss991464743, ss1067548326, ss1079895250, ss1352207516, ss1577440406, ss1584091581, ss1632384265, ss1675378298, ss1691612084, ss1711381928, ss1752148915, ss1752148916, ss1808054263, ss1917892173, ss1934835272, ss1946384962, ss1946384963, ss1959578859, ss1959578860, ss1966652235, ss2028201772, ss2156585874, ss2633190661, ss2710808615, ss2740918151, ss2749197696, ss2985030367, ss2985662293, ss3012692641, ss3021596401, ss3021596402, ss3350947696, ss3625665743, ss3627290645, ss3627290646, ss3631186447, ss3633086898, ss3633790824, ss3634591361, ss3634591362, ss3635480056, ss3636280773, ss3637231250, ss3638067883, ss3640298688, ss3640298689, ss3644638123, ss3644638124, ss3646464294, ss3651994278, ss3651994279, ss3653801917, ss3679957815, ss3740650182, ss3744126711, ss3744415582, ss3744891960, ss3744891961, ss3752697657, ss3772390715, ss3772390716, ss3824877526, ss3825851407, ss3834075596, ss3882140362, ss3931222937, ss3984062707, ss3984696403, ss3984696404, ss3986629976, ss4017686279, ss5214594984, ss5315760634, ss5417188075, ss5511348967, ss5624048162, ss5624352156, ss5656819909, ss5799928892, ss5841528150, ss5847442891, ss5847731380, ss5848391352, ss5936558340, ss5948284565, ss5979450613	NC_000014.8:94847414:A:G	NC_000014.9:94381077:A:G	(self)
RCV000019553.5, RCV000019554.30, RCV000151834.10, RCV000406073.10, RCV001701482.1, 85617889, 459857611, 1206107, 1030732, 101627225, 196530119, 5755375484, ss244239326, ss275513925, ss2204475991, ss3027928563, ss3650268459, ss3697278341, ss3725472900, ss3771809263, ss3818022220, ss4980984460, ss5141982733, ss5236919705, ss5237227740, ss5237663154, ss5297279504, ss5314439932, ss5491224177, ss5598091954, ss5767790121, ss5815014422, ss5902558410	NC_000014.9:94381077:A:G	NC_000014.9:94381077:A:G	(self)
ss21226833	NT_026437.10:74767455:A:G	NC_000014.9:94381077:A:G	(self)
ss1523459, ss1875346, ss3881968, ss4414578, ss16265152, ss23648078, ss28510791, ss40415692, ss48420220, ss65728926, ss69166928, ss71643946, ss74805898, ss74857874, ss76867519, ss86348464, ss96937975, ss105435603, ss120036973, ss132358496, ss159729911, ss174054976	NT_026437.12:75847414:A:G	NC_000014.9:94381077:A:G	(self)
ss4031549012	NT_187601.1:1497649:G:G	NC_000014.9:94381077:A:G	(self)

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

11 citations for rs6647

PMID	Title	Author	Year	Journal
2696185	The alpha 1-antitrypsin gene and its deficiency states.	Crystal RG et al.	1989	Trends in genetics
21625484	A comprehensive evaluation of potential lung function associated genes in the SpiroMeta general population sample.	Obeidat M et al.	2011	PloS one
22426792	Serum levels and genotype distribution of α1-antitrypsin in the general population.	Ferrarotti I et al.	2012	Thorax
23226977	The α(1)AT and TIMP-1 Gene Polymorphism in the Development of Asthma.	Kumar M et al.	2012	Comparative and functional genomics
24033266	A systematic approach to assessing the clinical significance of genetic variants.	Duzkale H et al.	2013	Clinical genetics
25741868	Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.	Richards S et al.	2015	Genetics in medicine
30182779	Genetic susceptibility to cerebrovascular disease: A systematic review.	Griessenauer CJ et al.	2018	Journal of cerebral blood flow and metabolism
31298815	SERPINA1 gene polymorphisms in a population-based ALSPAC cohort.	DeLuca DS et al.	2019	Pediatric pulmonology
31661293	The Effects of Rare SERPINA1 Variants on Lung Function and Emphysema in SPIROMICS.	Ortega VE et al.	2020	American journal of respiratory and critical care medicine
32725952	SERPINA1 gene expression in whole blood links the rs6647 variant G allele to an increased risk of large artery atherosclerotic stroke.	Liu Q et al.	2020	FASEB journal
33790624	Known Mutations at the Cause of Alpha-1 Antitrypsin Deficiency an Updated Overview of SERPINA1 Variation Spectrum.	Seixas S et al.	2021	The application of clinical genetics

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

rs6647