Name: rs9924755
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.

rs9924755

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr16:16177552 (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
Variation Type: SNV Single Nucleotide Variation
Frequency: A=0.182100 (48200/264690, TOPMED)
A=0.139701 (35116/251366, GnomAD_exome)
A=0.176903 (24799/140184, GnomAD) (+ 27 more)
A=0.139525 (16918/121254, ExAC)
A=0.16461 (15426/93710, ALFA)
A=0.18952 (14915/78700, PAGE_STUDY)
A=0.10765 (3042/28258, 14KJPN)
A=0.10668 (1788/16760, 8.3KJPN)
A=0.18816 (2445/12994, GO-ESP)
A=0.1563 (1001/6404, 1000G_30x)
A=0.1516 (759/5008, 1000G)
A=0.1491 (668/4480, Estonian)
A=0.1422 (548/3854, ALSPAC)
A=0.1402 (520/3708, TWINSUK)
A=0.0898 (263/2930, KOREAN)
A=0.1866 (353/1892, HapMap)
A=0.144 (144/998, GoNL)
A=0.154 (139/904, PharmGKB)
A=0.068 (54/790, PRJEB37584)
A=0.192 (120/626, Chileans)
A=0.052 (32/616, Vietnamese)
A=0.108 (65/600, NorthernSweden)
A=0.122 (65/534, MGP)
A=0.132 (40/304, FINRISK)
A=0.148 (32/216, Qatari)
G=0.500 (57/114, SGDP_PRJ)
A=0.500 (57/114, SGDP_PRJ)
A=0.12 (5/40, GENOME_DK)
G=0.50 (6/12, Siberian)
A=0.50 (6/12, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: ABCC6 : Synonymous 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	115004	G=0.832928	A=0.167072
European	Sub	84954	G=0.84744	A=0.15256
African	Sub	14704	G=0.74986	A=0.25014
African Others	Sub	500	G=0.742	A=0.258
African American	Sub	14204	G=0.75014	A=0.24986
Asian	Sub	272	G=0.904	A=0.096
East Asian	Sub	184	G=0.875	A=0.125
Other Asian	Sub	88	G=0.97	A=0.03
Latin American 1	Sub	644	G=0.839	A=0.161
Latin American 2	Sub	2058	G=0.8465	A=0.1535
South Asian	Sub	132	G=0.917	A=0.083
Other	Sub	12240	G=0.82696	A=0.17304

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=0.817900	A=0.182100
gnomAD - Exomes	Global	Study-wide	251366	G=0.860299	A=0.139701
gnomAD - Exomes	European	Sub	135310	G=0.858104	A=0.141896
gnomAD - Exomes	Asian	Sub	49008	G=0.93583	A=0.06417
gnomAD - Exomes	American	Sub	34592	G=0.84398	A=0.15602
gnomAD - Exomes	African	Sub	16250	G=0.74572	A=0.25428
gnomAD - Exomes	Ashkenazi Jewish	Sub	10076	G=0.76509	A=0.23491
gnomAD - Exomes	Other	Sub	6130	G=0.8573	A=0.1427
gnomAD - Genomes	Global	Study-wide	140184	G=0.823097	A=0.176903
gnomAD - Genomes	European	Sub	75932	G=0.85736	A=0.14264
gnomAD - Genomes	African	Sub	41992	G=0.74809	A=0.25191
gnomAD - Genomes	American	Sub	13654	G=0.84979	A=0.15021
gnomAD - Genomes	Ashkenazi Jewish	Sub	3320	G=0.7639	A=0.2361
gnomAD - Genomes	East Asian	Sub	3134	G=0.9336	A=0.0664
gnomAD - Genomes	Other	Sub	2152	G=0.8388	A=0.1612
ExAC	Global	Study-wide	121254	G=0.860475	A=0.139525
ExAC	Europe	Sub	73234	G=0.85335	A=0.14665
ExAC	Asian	Sub	25146	G=0.93570	A=0.06430
ExAC	American	Sub	11570	G=0.83794	A=0.16206
ExAC	African	Sub	10400	G=0.75240	A=0.24760
ExAC	Other	Sub	904	G=0.877	A=0.123
Allele Frequency Aggregator	Total	Global	93710	G=0.83539	A=0.16461
Allele Frequency Aggregator	European	Sub	71870	G=0.84671	A=0.15329
Allele Frequency Aggregator	Other	Sub	10010	G=0.82567	A=0.17433
Allele Frequency Aggregator	African	Sub	8724	G=0.7470	A=0.2530
Allele Frequency Aggregator	Latin American 2	Sub	2058	G=0.8465	A=0.1535
Allele Frequency Aggregator	Latin American 1	Sub	644	G=0.839	A=0.161
Allele Frequency Aggregator	Asian	Sub	272	G=0.904	A=0.096
Allele Frequency Aggregator	South Asian	Sub	132	G=0.917	A=0.083
The PAGE Study	Global	Study-wide	78700	G=0.81048	A=0.18952
The PAGE Study	AfricanAmerican	Sub	32514	G=0.74731	A=0.25269
The PAGE Study	Mexican	Sub	10810	G=0.84385	A=0.15615
The PAGE Study	Asian	Sub	8318	G=0.9053	A=0.0947
The PAGE Study	PuertoRican	Sub	7918	G=0.8210	A=0.1790
The PAGE Study	NativeHawaiian	Sub	4534	G=0.9336	A=0.0664
The PAGE Study	Cuban	Sub	4230	G=0.8314	A=0.1686
The PAGE Study	Dominican	Sub	3828	G=0.7892	A=0.2108
The PAGE Study	CentralAmerican	Sub	2450	G=0.8404	A=0.1596
The PAGE Study	SouthAmerican	Sub	1982	G=0.8340	A=0.1660
The PAGE Study	NativeAmerican	Sub	1260	G=0.8349	A=0.1651
The PAGE Study	SouthAsian	Sub	856	G=0.933	A=0.067
14KJPN	JAPANESE	Study-wide	28258	G=0.89235	A=0.10765
8.3KJPN	JAPANESE	Study-wide	16760	G=0.89332	A=0.10668
GO Exome Sequencing Project	Global	Study-wide	12994	G=0.81184	A=0.18816
GO Exome Sequencing Project	European American	Sub	8600	G=0.8434	A=0.1566
GO Exome Sequencing Project	African American	Sub	4394	G=0.7501	A=0.2499
1000Genomes_30x	Global	Study-wide	6404	G=0.8437	A=0.1563
1000Genomes_30x	African	Sub	1786	G=0.7228	A=0.2772
1000Genomes_30x	Europe	Sub	1266	G=0.8389	A=0.1611
1000Genomes_30x	South Asian	Sub	1202	G=0.9468	A=0.0532
1000Genomes_30x	East Asian	Sub	1170	G=0.9291	A=0.0709
1000Genomes_30x	American	Sub	980	G=0.842	A=0.158
1000Genomes	Global	Study-wide	5008	G=0.8484	A=0.1516
1000Genomes	African	Sub	1322	G=0.7277	A=0.2723
1000Genomes	East Asian	Sub	1008	G=0.9256	A=0.0744
1000Genomes	Europe	Sub	1006	G=0.8419	A=0.1581
1000Genomes	South Asian	Sub	978	G=0.949	A=0.051
1000Genomes	American	Sub	694	G=0.834	A=0.166
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.8509	A=0.1491
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.8578	A=0.1422
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.8598	A=0.1402
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.9102	A=0.0898
HapMap	Global	Study-wide	1892	G=0.8134	A=0.1866
HapMap	American	Sub	770	G=0.860	A=0.140
HapMap	African	Sub	692	G=0.740	A=0.260
HapMap	Asian	Sub	254	G=0.882	A=0.118
HapMap	Europe	Sub	176	G=0.801	A=0.199
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.856	A=0.144
PharmGKB Aggregated	Global	Study-wide	904	G=0.846	A=0.154
PharmGKB Aggregated	PA152502372	Sub	552	G=0.833	A=0.167
PharmGKB Aggregated	PA149193420	Sub	352	G=0.866	A=0.134
CNV burdens in cranial meningiomas	Global	Study-wide	790	G=0.932	A=0.068
CNV burdens in cranial meningiomas	CRM	Sub	790	G=0.932	A=0.068
Chileans	Chilean	Study-wide	626	G=0.808	A=0.192
A Vietnamese Genetic Variation Database	Global	Study-wide	616	G=0.948	A=0.052
Northern Sweden	ACPOP	Study-wide	600	G=0.892	A=0.108
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	G=0.878	A=0.122
FINRISK	Finnish from FINRISK project	Study-wide	304	G=0.868	A=0.132
Qatari	Global	Study-wide	216	G=0.852	A=0.148
SGDP_PRJ	Global	Study-wide	114	G=0.500	A=0.500
The Danish reference pan genome	Danish	Study-wide	40	G=0.88	A=0.12
Siberian	Global	Study-wide	12	G=0.50	A=0.50

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 16	NC_000016.10:g.16177552G>A
GRCh37.p13 chr 16	NC_000016.9:g.16271409G>A
ABCC6 RefSeqGene (LRG_1115)	NG_007558.3:g.51066C>T
GRCh38.p14 chr 16 alt locus HSCHR16_1_CTG1	NT_187607.1:g.1835562G>A

Gene: ABCC6, ATP binding cassette subfamily C member 6 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ABCC6 transcript variant 2	NM_001079528.4:c.	N/A	Genic Downstream Transcript Variant
ABCC6 transcript variant 3	NM_001351800.1:c.2148C>T	A [GCC] > A [GCT]	Coding Sequence Variant
ATP-binding cassette sub-family C member 6 isoform 3	NP_001338729.1:p.Ala716=	A (Ala) > A (Ala)	Synonymous Variant
ABCC6 transcript variant 1	NM_001171.6:c.2490C>T	A [GCC] > A [GCT]	Coding Sequence Variant
ATP-binding cassette sub-family C member 6 isoform 1	NP_001162.5:p.Ala830=	A (Ala) > A (Ala)	Synonymous Variant
ABCC6 transcript variant 4	NR_147784.1:n.	N/A	Intron Variant
ABCC6 transcript variant X3	XM_011522480.1:c.2148C>T	A [GCC] > A [GCT]	Coding Sequence Variant
ATP-binding cassette sub-family C member 6 isoform X3	XP_011520782.1:p.Ala716=	A (Ala) > A (Ala)	Synonymous Variant
ABCC6 transcript variant X1	XM_011522479.3:c.2457C>T	A [GCC] > A [GCT]	Coding Sequence Variant
ATP-binding cassette sub-family C member 6 isoform X1	XP_011520781.1:p.Ala819=	A (Ala) > A (Ala)	Synonymous Variant
ABCC6 transcript variant X2	XM_017023212.2:c.2322C>T	A [GCC] > A [GCT]	Coding Sequence Variant
ATP-binding cassette sub-family C member 6 isoform X2	XP_016878701.1:p.Ala774=	A (Ala) > A (Ala)	Synonymous Variant
ABCC6 transcript variant X4	XM_011522481.4:c.2148C>T	A [GCC] > A [GCT]	Coding Sequence Variant
ATP-binding cassette sub-family C member 6 isoform X3	XP_011520783.1:p.Ala716=	A (Ala) > A (Ala)	Synonymous Variant
ABCC6 transcript variant X8	XM_017023214.2:c.2490C>T	A [GCC] > A [GCT]	Coding Sequence Variant
ATP-binding cassette sub-family C member 6 isoform X4	XP_016878703.1:p.Ala830=	A (Ala) > A (Ala)	Synonymous Variant
ABCC6 transcript variant X9	XM_047434069.1:c.2322C>T	A [GCC] > A [GCT]	Coding Sequence Variant
ATP-binding cassette sub-family C member 6 isoform X5	XP_047290025.1:p.Ala774=	A (Ala) > A (Ala)	Synonymous Variant
ABCC6 transcript variant X10	XM_011522482.4:c.2490C>T	A [GCC] > A [GCT]	Coding Sequence Variant
ATP-binding cassette sub-family C member 6 isoform X6	XP_011520784.1:p.Ala830=	A (Ala) > A (Ala)	Synonymous Variant
ABCC6 transcript variant X5	XR_932836.3:n.2550C>T	N/A	Non Coding Transcript Variant
ABCC6 transcript variant X6	XR_932838.4:n.2550C>T	N/A	Non Coding Transcript Variant
ABCC6 transcript variant X7	XR_932837.4:n.2550C>T	N/A	Non Coding 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.

Allele: A (allele ID: 426928 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000499066.5	Pseudoxanthoma elasticum	Benign
RCV001517253.7	not provided	Benign
RCV002253474.1	Pseudoxanthoma elasticum, forme fruste	Benign
RCV002253475.1	Arterial calcification, generalized, of infancy, 2	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	G=	A
GRCh38.p14 chr 16	NC_000016.10:g.16177552=	NC_000016.10:g.16177552G>A
GRCh37.p13 chr 16	NC_000016.9:g.16271409=	NC_000016.9:g.16271409G>A
ABCC6 RefSeqGene (LRG_1115)	NG_007558.3:g.51066=	NG_007558.3:g.51066C>T
ABCC6 transcript variant 1	NM_001171.6:c.2490=	NM_001171.6:c.2490C>T
ABCC6 transcript variant 1	NM_001171.5:c.2490=	NM_001171.5:c.2490C>T
ABCC6 transcript variant 3	NM_001351800.1:c.2148=	NM_001351800.1:c.2148C>T
GRCh38.p14 chr 16 alt locus HSCHR16_1_CTG1	NT_187607.1:g.1835562=	NT_187607.1:g.1835562G>A
ABCC6 transcript variant X4	XM_011522481.4:c.2148=	XM_011522481.4:c.2148C>T
ABCC6 transcript variant X5	XM_011522481.3:c.2148=	XM_011522481.3:c.2148C>T
ABCC6 transcript variant X6	XM_011522481.2:c.2148=	XM_011522481.2:c.2148C>T
ABCC6 transcript variant X3	XM_011522481.1:c.2148=	XM_011522481.1:c.2148C>T
ABCC6 transcript variant X6	XR_932838.4:n.2550=	XR_932838.4:n.2550C>T
ABCC6 transcript variant X7	XR_932838.3:n.2671=	XR_932838.3:n.2671C>T
ABCC6 transcript variant X8	XR_932838.2:n.2671=	XR_932838.2:n.2671C>T
ABCC6 transcript variant X5	XR_932838.1:n.2726=	XR_932838.1:n.2726C>T
ABCC6 transcript variant X7	XR_932837.4:n.2550=	XR_932837.4:n.2550C>T
ABCC6 transcript variant X6	XR_932837.3:n.2671=	XR_932837.3:n.2671C>T
ABCC6 transcript variant X7	XR_932837.2:n.2670=	XR_932837.2:n.2670C>T
ABCC6 transcript variant X4	XR_932837.1:n.2726=	XR_932837.1:n.2726C>T
ABCC6 transcript variant X10	XM_011522482.4:c.2490=	XM_011522482.4:c.2490C>T
ABCC6 transcript variant X9	XM_011522482.3:c.2490=	XM_011522482.3:c.2490C>T
ABCC6 transcript variant X10	XM_011522482.2:c.2490=	XM_011522482.2:c.2490C>T
ABCC6 transcript variant X7	XM_011522482.1:c.2490=	XM_011522482.1:c.2490C>T
ABCC6 transcript variant X1	XM_011522479.3:c.2457=	XM_011522479.3:c.2457C>T
ABCC6 transcript variant X1	XM_011522479.2:c.2457=	XM_011522479.2:c.2457C>T
ABCC6 transcript variant X6	XM_011522479.1:c.2457=	XM_011522479.1:c.2457C>T
ABCC6 transcript variant X5	XR_932836.3:n.2550=	XR_932836.3:n.2550C>T
ABCC6 transcript variant X3	XR_932836.2:n.2671=	XR_932836.2:n.2671C>T
ABCC6 transcript variant X1	XR_932836.1:n.2725=	XR_932836.1:n.2725C>T
ABCC6 transcript variant X2	XM_017023212.2:c.2322=	XM_017023212.2:c.2322C>T
ABCC6 transcript variant X2	XM_017023212.1:c.2322=	XM_017023212.1:c.2322C>T
ABCC6 transcript variant X8	XM_017023214.2:c.2490=	XM_017023214.2:c.2490C>T
ABCC6 transcript variant X8	XM_017023214.1:c.2490=	XM_017023214.1:c.2490C>T
ABCC6 transcript variant X3	XM_011522480.1:c.2148=	XM_011522480.1:c.2148C>T
ABCC6 transcript variant X9	XM_047434069.1:c.2322=	XM_047434069.1:c.2322C>T
ATP-binding cassette sub-family C member 6 isoform 1	NP_001162.5:p.Ala830=	NP_001162.5:p.Ala830=
ATP-binding cassette sub-family C member 6 isoform 3	NP_001338729.1:p.Ala716=	NP_001338729.1:p.Ala716=
ATP-binding cassette sub-family C member 6 isoform X3	XP_011520783.1:p.Ala716=	XP_011520783.1:p.Ala716=
ATP-binding cassette sub-family C member 6 isoform X6	XP_011520784.1:p.Ala830=	XP_011520784.1:p.Ala830=
ATP-binding cassette sub-family C member 6 isoform X1	XP_011520781.1:p.Ala819=	XP_011520781.1:p.Ala819=
ATP-binding cassette sub-family C member 6 isoform X2	XP_016878701.1:p.Ala774=	XP_016878701.1:p.Ala774=
ATP-binding cassette sub-family C member 6 isoform X4	XP_016878703.1:p.Ala830=	XP_016878703.1:p.Ala830=
ATP-binding cassette sub-family C member 6 isoform X3	XP_011520782.1:p.Ala716=	XP_011520782.1:p.Ala716=
ATP-binding cassette sub-family C member 6 isoform X5	XP_047290025.1:p.Ala774=	XP_047290025.1:p.Ala774=
multidrug resistance-associated protein 6 isoform 1	NP_001162.4:p.Ala830=	NP_001162.4:p.Ala830=
ABCC6 transcript variant X1	XM_005255310.1:c.2718+1246=	XM_005255310.1:c.2718+1246C>T

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#.

124 SubSNP, 28 Frequency, 4 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	BCM_SSAHASNP	ss13763530	Dec 05, 2003 (119)
2	SI_EXO	ss52084115	Oct 14, 2006 (127)
3	PERLEGEN	ss69340477	May 17, 2007 (127)
4	ILLUMINA	ss75153660	Dec 07, 2007 (129)
5	AFFY	ss76578209	Dec 07, 2007 (129)
6	PHARMGKB_AB_DME	ss84161881	Dec 15, 2007 (130)
7	PHARMGKB_PMT	ss84171224	Dec 15, 2007 (130)
8	HGSV	ss85568346	Dec 15, 2007 (130)
9	CORNELL	ss86242356	Mar 23, 2008 (129)
10	SNP500CANCER	ss105439627	Feb 05, 2009 (130)
11	ABCC6-LOVD	ss107794957	Feb 05, 2009 (130)
12	KRIBB_YJKIM	ss119606840	Dec 01, 2009 (131)
13	SEATTLESEQ	ss159732346	Dec 01, 2009 (131)
14	COMPLETE_GENOMICS	ss167947955	Jul 04, 2010 (132)
15	ILLUMINA	ss174928947	Jul 04, 2010 (132)
16	BUSHMAN	ss201504235	Jul 04, 2010 (132)
17	1000GENOMES	ss211692925	Jul 14, 2010 (132)
18	1000GENOMES	ss217325489	Jul 14, 2010 (132)
19	1000GENOMES	ss217404287	Jul 14, 2010 (132)
20	1000GENOMES	ss217405810	Jul 14, 2010 (132)
21	1000GENOMES	ss217413147	Jul 14, 2010 (132)
22	1000GENOMES	ss217424452	Jul 14, 2010 (132)
23	1000GENOMES	ss217428899	Jul 14, 2010 (132)
24	1000GENOMES	ss217430912	Jul 14, 2010 (132)
25	1000GENOMES	ss227171023	Jul 14, 2010 (132)
26	1000GENOMES	ss236973374	Jul 15, 2010 (132)
27	1000GENOMES	ss243323901	Jul 15, 2010 (132)
28	GMI	ss282457625	May 04, 2012 (137)
29	NHLBI-ESP	ss342421915	May 09, 2011 (134)
30	ILLUMINA	ss483484941	May 04, 2012 (137)
31	ILLUMINA	ss484012414	May 04, 2012 (137)
32	1000GENOMES	ss491098364	May 04, 2012 (137)
33	CLINSEQ_SNP	ss491714172	May 04, 2012 (137)
34	ILLUMINA	ss536205103	Sep 08, 2015 (146)
35	TISHKOFF	ss564815953	Apr 25, 2013 (138)
36	SSMP	ss660562116	Apr 25, 2013 (138)
37	ILLUMINA	ss780493106	Sep 08, 2015 (146)
38	ILLUMINA	ss782450669	Sep 08, 2015 (146)
39	ILLUMINA	ss835983887	Sep 08, 2015 (146)
40	JMKIDD_LAB	ss974494193	Aug 21, 2014 (142)
41	EVA-GONL	ss992338214	Aug 21, 2014 (142)
42	JMKIDD_LAB	ss1067559589	Aug 21, 2014 (142)
43	JMKIDD_LAB	ss1080526102	Aug 21, 2014 (142)
44	1000GENOMES	ss1355598565	Aug 21, 2014 (142)
45	DDI	ss1427794652	Apr 01, 2015 (144)
46	EVA_GENOME_DK	ss1577858075	Apr 01, 2015 (144)
47	EVA_FINRISK	ss1584098646	Apr 01, 2015 (144)
48	EVA_UK10K_ALSPAC	ss1634121973	Apr 01, 2015 (144)
49	EVA_UK10K_TWINSUK	ss1677116006	Apr 01, 2015 (144)
50	EVA_EXAC	ss1692178200	Apr 01, 2015 (144)
51	EVA_DECODE	ss1696373394	Apr 01, 2015 (144)
52	EVA_MGP	ss1711420749	Apr 01, 2015 (144)
53	EVA_SVP	ss1713529743	Apr 01, 2015 (144)
54	HAMMER_LAB	ss1808446536	Sep 08, 2015 (146)
55	WEILL_CORNELL_DGM	ss1935755763	Feb 12, 2016 (147)
56	ILLUMINA	ss1946410326	Feb 12, 2016 (147)
57	ILLUMINA	ss1959663804	Feb 12, 2016 (147)
58	GENOMED	ss1968232384	Jul 19, 2016 (147)
59	JJLAB	ss2028664860	Sep 14, 2016 (149)
60	USC_VALOUEV	ss2157076420	Dec 20, 2016 (150)
61	HUMAN_LONGEVITY	ss2211038521	Dec 20, 2016 (150)
62	ILLUMINA	ss2633301222	Nov 08, 2017 (151)
63	GRF	ss2701575393	Nov 08, 2017 (151)
64	GNOMAD	ss2741786813	Nov 08, 2017 (151)
65	GNOMAD	ss2749480996	Nov 08, 2017 (151)
66	GNOMAD	ss2940929717	Nov 08, 2017 (151)
67	SWEGEN	ss3014157041	Nov 08, 2017 (151)
68	ILLUMINA	ss3021689277	Nov 08, 2017 (151)
69	BIOINF_KMB_FNS_UNIBA	ss3028158035	Nov 08, 2017 (151)
70	CSHL	ss3351363041	Nov 08, 2017 (151)
71	ILLUMINA	ss3625688273	Oct 12, 2018 (152)
72	ILLUMINA	ss3627490113	Oct 12, 2018 (152)
73	ILLUMINA	ss3631288866	Oct 12, 2018 (152)
74	ILLUMINA	ss3638116635	Oct 12, 2018 (152)
75	ILLUMINA	ss3641947654	Oct 12, 2018 (152)
76	ILLUMINA	ss3643098307	Oct 12, 2018 (152)
77	ILLUMINA	ss3644663415	Oct 12, 2018 (152)
78	OMUKHERJEE_ADBS	ss3646487395	Oct 12, 2018 (152)
79	ILLUMINA	ss3652095739	Oct 12, 2018 (152)
80	EGCUT_WGS	ss3681270152	Jul 13, 2019 (153)
81	EVA_DECODE	ss3698945681	Jul 13, 2019 (153)
82	ILLUMINA	ss3725548550	Jul 13, 2019 (153)
83	ACPOP	ss3741382457	Jul 13, 2019 (153)
84	ILLUMINA	ss3744139055	Jul 13, 2019 (153)
85	EVA	ss3753751635	Jul 13, 2019 (153)
86	PAGE_CC	ss3771869405	Jul 13, 2019 (153)
87	KHV_HUMAN_GENOMES	ss3819045469	Jul 13, 2019 (153)
88	EVA	ss3824992036	Apr 27, 2020 (154)
89	EVA	ss3825874925	Apr 27, 2020 (154)
90	EVA	ss3834501568	Apr 27, 2020 (154)
91	SGDP_PRJ	ss3884058272	Apr 27, 2020 (154)
92	KRGDB	ss3933369974	Apr 27, 2020 (154)
93	FSA-LAB	ss3984088949	Apr 27, 2021 (155)
94	EVA	ss3984710592	Apr 27, 2021 (155)
95	EVA	ss3986677858	Apr 27, 2021 (155)
96	EVA	ss4017728794	Apr 27, 2021 (155)
97	TOPMED	ss5009590261	Apr 27, 2021 (155)
98	TOMMO_GENOMICS	ss5218677478	Apr 27, 2021 (155)
99	EVA	ss5236931296	Apr 27, 2021 (155)
100	EVA	ss5237233389	Apr 27, 2021 (155)
101	EVA	ss5237561258	Apr 27, 2021 (155)
102	EVA	ss5237665939	Oct 17, 2022 (156)
103	1000G_HIGH_COVERAGE	ss5300328040	Oct 17, 2022 (156)
104	TRAN_CS_UWATERLOO	ss5314443595	Oct 17, 2022 (156)
105	EVA	ss5315828325	Oct 17, 2022 (156)
106	EVA	ss5422655799	Oct 17, 2022 (156)
107	HUGCELL_USP	ss5493827341	Oct 17, 2022 (156)
108	EVA	ss5511578671	Oct 17, 2022 (156)
109	1000G_HIGH_COVERAGE	ss5602647011	Oct 17, 2022 (156)
110	EVA	ss5624060291	Oct 17, 2022 (156)
111	SANFORD_IMAGENETICS	ss5624376175	Oct 17, 2022 (156)
112	SANFORD_IMAGENETICS	ss5658573174	Oct 17, 2022 (156)
113	TOMMO_GENOMICS	ss5773232994	Oct 17, 2022 (156)
114	YY_MCH	ss5815804811	Oct 17, 2022 (156)
115	EVA	ss5846177731	Oct 17, 2022 (156)
116	EVA	ss5847459779	Oct 17, 2022 (156)
117	EVA	ss5847765361	Oct 17, 2022 (156)
118	EVA	ss5848419913	Oct 17, 2022 (156)
119	EVA	ss5851513691	Oct 17, 2022 (156)
120	EVA	ss5898493616	Oct 17, 2022 (156)
121	EVA	ss5936562816	Oct 17, 2022 (156)
122	EVA	ss5950002910	Oct 17, 2022 (156)
123	EVA	ss5979480150	Oct 17, 2022 (156)
124	EVA	ss5980909503	Oct 17, 2022 (156)
125	1000Genomes	NC_000016.9 - 16271409	Oct 12, 2018 (152)
126	1000Genomes_30x	NC_000016.10 - 16177552	Oct 17, 2022 (156)
127	The Avon Longitudinal Study of Parents and Children	NC_000016.9 - 16271409	Oct 12, 2018 (152)
128	Chileans	NC_000016.9 - 16271409	Apr 27, 2020 (154)
129	Genetic variation in the Estonian population	NC_000016.9 - 16271409	Oct 12, 2018 (152)
130	ExAC	NC_000016.9 - 16271409	Oct 12, 2018 (152)
131	FINRISK	NC_000016.9 - 16271409	Apr 27, 2020 (154)
132	The Danish reference pan genome	NC_000016.9 - 16271409	Apr 27, 2020 (154)
133	gnomAD - Genomes	NC_000016.10 - 16177552	Apr 27, 2021 (155)
134	gnomAD - Exomes	NC_000016.9 - 16271409	Jul 13, 2019 (153)
135	GO Exome Sequencing Project	NC_000016.9 - 16271409	Oct 12, 2018 (152)
136	Genome of the Netherlands Release 5	NC_000016.9 - 16271409	Apr 27, 2020 (154)
137	HapMap	NC_000016.10 - 16177552	Apr 27, 2020 (154)
138	KOREAN population from KRGDB	NC_000016.9 - 16271409	Apr 27, 2020 (154)
139	Medical Genome Project healthy controls from Spanish population	NC_000016.9 - 16271409	Apr 27, 2020 (154)
140	Northern Sweden	NC_000016.9 - 16271409	Jul 13, 2019 (153)
141	The PAGE Study	NC_000016.10 - 16177552	Jul 13, 2019 (153)
142	CNV burdens in cranial meningiomas	NC_000016.9 - 16271409	Apr 27, 2021 (155)
143	PharmGKB Aggregated	NC_000016.10 - 16177552	Apr 27, 2020 (154)
144	Qatari	NC_000016.9 - 16271409	Apr 27, 2020 (154)
145	SGDP_PRJ	NC_000016.9 - 16271409	Apr 27, 2020 (154)
146	Siberian	NC_000016.9 - 16271409	Apr 27, 2020 (154)
147	8.3KJPN	NC_000016.9 - 16271409	Apr 27, 2021 (155)
148	14KJPN	NC_000016.10 - 16177552	Oct 17, 2022 (156)
149	TopMed	NC_000016.10 - 16177552	Apr 27, 2021 (155)
150	UK 10K study - Twins	NC_000016.9 - 16271409	Oct 12, 2018 (152)
151	A Vietnamese Genetic Variation Database	NC_000016.9 - 16271409	Jul 13, 2019 (153)
152	ALFA	NC_000016.10 - 16177552	Apr 27, 2021 (155)
153	ClinVar	RCV000499066.5	Oct 17, 2022 (156)
154	ClinVar	RCV001517253.7	Oct 17, 2022 (156)
155	ClinVar	RCV002253474.1	Oct 17, 2022 (156)
156	ClinVar	RCV002253475.1	Oct 17, 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)
rs58785311	May 24, 2008 (130)
rs117965330	Aug 16, 2010 (132)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss85568346, ss167947955, ss201504235, ss211692925, ss217325489, ss217404287, ss217405810, ss217413147, ss217424452, ss217428899, ss217430912, ss282457625, ss483484941, ss491714172, ss1696373394, ss1713529743, ss3643098307	NC_000016.8:16178909:G:A	NC_000016.10:16177551:G:A	(self)
68740294, 38166924, 165041, 27008400, 2576706, 95107, 4072777, 11065067, 1449223, 17025245, 40547368, 536509, 14667322, 260125, 17797685, 36075252, 9592774, 76646785, 38166924, 8478618, ss227171023, ss236973374, ss243323901, ss342421915, ss484012414, ss491098364, ss536205103, ss564815953, ss660562116, ss780493106, ss782450669, ss835983887, ss974494193, ss992338214, ss1067559589, ss1080526102, ss1355598565, ss1427794652, ss1577858075, ss1584098646, ss1634121973, ss1677116006, ss1692178200, ss1711420749, ss1808446536, ss1935755763, ss1946410326, ss1959663804, ss1968232384, ss2028664860, ss2157076420, ss2633301222, ss2701575393, ss2741786813, ss2749480996, ss2940929717, ss3014157041, ss3021689277, ss3351363041, ss3625688273, ss3627490113, ss3631288866, ss3638116635, ss3641947654, ss3644663415, ss3646487395, ss3652095739, ss3681270152, ss3741382457, ss3744139055, ss3753751635, ss3824992036, ss3825874925, ss3834501568, ss3884058272, ss3933369974, ss3984088949, ss3984710592, ss3986677858, ss4017728794, ss5218677478, ss5237561258, ss5315828325, ss5422655799, ss5511578671, ss5624060291, ss5624376175, ss5658573174, ss5846177731, ss5847459779, ss5847765361, ss5848419913, ss5936562816, ss5950002910, ss5979480150, ss5980909503	NC_000016.9:16271408:G:A	NC_000016.10:16177551:G:A	(self)
RCV000499066.5, RCV001517253.7, RCV002253474.1, RCV002253475.1, 90172946, 484395598, 1359365, 1090874, 4055, 107070098, 225135922, 6065729437, ss107794957, ss2211038521, ss3028158035, ss3698945681, ss3725548550, ss3771869405, ss3819045469, ss5009590261, ss5236931296, ss5237233389, ss5237665939, ss5300328040, ss5314443595, ss5493827341, ss5602647011, ss5773232994, ss5815804811, ss5851513691, ss5898493616	NC_000016.10:16177551:G:A	NC_000016.10:16177551:G:A	(self)
ss13763530	NT_010393.14:7583542:G:A	NC_000016.10:16177551:G:A	(self)
ss52084115	NT_010393.15:7584487:G:A	NC_000016.10:16177551:G:A	(self)
ss69340477, ss75153660, ss76578209, ss84161881, ss84171224, ss86242356, ss105439627, ss119606840, ss159732346, ss174928947	NT_010393.16:16211408:G:A	NC_000016.10:16177551:G:A	(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 rs9924755

PMID	Title	Author	Year	Journal
10835642	Mutations in a gene encoding an ABC transporter cause pseudoxanthoma elasticum.	Le Saux O et al.	2000	Nature 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.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs9924755