Name: rs242944
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.

rs242944

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:45845814 (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 / G>T
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.435081 (122403/281334, ALFA)
G=0.474476 (125589/264690, TOPMED)
G=0.373738 (92252/246836, GnomAD_exome) (+ 23 more)
G=0.470623 (65922/140074, GnomAD)
G=0.379116 (45989/121306, ExAC)
G=0.45964 (36151/78650, PAGE_STUDY)
G=0.19146 (5409/28252, 14KJPN)
G=0.19243 (3224/16754, 8.3KJPN)
G=0.49823 (6480/13006, GO-ESP)
G=0.3962 (2537/6404, 1000G_30x)
G=0.3908 (1957/5008, 1000G)
G=0.3926 (1759/4480, Estonian)
G=0.4507 (1737/3854, ALSPAC)
G=0.4420 (1639/3708, TWINSUK)
G=0.1655 (485/2930, KOREAN)
G=0.4588 (868/1892, HapMap)
G=0.472 (471/998, GoNL)
G=0.182 (144/792, PRJEB37584)
G=0.237 (144/608, Vietnamese)
G=0.378 (227/600, NorthernSweden)
A=0.337 (180/534, MGP)
G=0.228 (109/478, SGDP_PRJ)
G=0.275 (83/302, FINRISK)
G=0.389 (84/216, Qatari)
G=0.13 (7/52, Siberian)
G=0.38 (18/48, Ancient Sardinia)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: SPPL2C : Missense Variant
MAPT-AS1 : Intron Variant
Publications: 1 citation
Genomic View: See rs on genome

ALFA Allele Frequency
The ALFA project provide aggregate allele frequency from dbGaP. More information is available on the project page including descriptions, data access, and terms of use.

Release Version: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	302522	G=0.438685	A=0.561315, C=0.000000, T=0.000000
European	Sub	258110	G=0.440754	A=0.559246, C=0.000000, T=0.000000
African	Sub	12486	G=0.61861	A=0.38139, C=0.00000, T=0.00000
African Others	Sub	478	G=0.651	A=0.349, C=0.000, T=0.000
African American	Sub	12008	G=0.61734	A=0.38266, C=0.00000, T=0.00000
Asian	Sub	3738	G=0.2172	A=0.7828, C=0.0000, T=0.0000
East Asian	Sub	3032	G=0.1761	A=0.8239, C=0.0000, T=0.0000
Other Asian	Sub	706	G=0.394	A=0.606, C=0.000, T=0.000
Latin American 1	Sub	672	G=0.503	A=0.497, C=0.000, T=0.000
Latin American 2	Sub	5868	G=0.2957	A=0.7043, C=0.0000, T=0.0000
South Asian	Sub	5180	G=0.2274	A=0.7726, C=0.0000, T=0.0000
Other	Sub	16468	G=0.43490	A=0.56510, C=0.00000, T=0.00000

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	281334	G=0.435081	A=0.564919, C=0.000000, T=0.000000
Allele Frequency Aggregator	European	Sub	245086	G=0.441196	A=0.558804, C=0.000000, T=0.000000
Allele Frequency Aggregator	Other	Sub	14256	G=0.43385	A=0.56615, C=0.00000, T=0.00000
Allele Frequency Aggregator	African	Sub	6534	G=0.6159	A=0.3841, C=0.0000, T=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	5868	G=0.2957	A=0.7043, C=0.0000, T=0.0000
Allele Frequency Aggregator	South Asian	Sub	5180	G=0.2274	A=0.7726, C=0.0000, T=0.0000
Allele Frequency Aggregator	Asian	Sub	3738	G=0.2172	A=0.7828, C=0.0000, T=0.0000
Allele Frequency Aggregator	Latin American 1	Sub	672	G=0.503	A=0.497, C=0.000, T=0.000
TopMed	Global	Study-wide	264690	G=0.474476	A=0.525524
gnomAD - Exomes	Global	Study-wide	246836	G=0.373738	A=0.626262
gnomAD - Exomes	European	Sub	130874	G=0.413145	A=0.586855
gnomAD - Exomes	Asian	Sub	48996	G=0.22226	A=0.77774
gnomAD - Exomes	American	Sub	34582	G=0.28882	A=0.71118
gnomAD - Exomes	African	Sub	16214	G=0.62810	A=0.37190
gnomAD - Exomes	Ashkenazi Jewish	Sub	10070	G=0.46584	A=0.53416
gnomAD - Exomes	Other	Sub	6100	G=0.3982	A=0.6018
gnomAD - Genomes	Global	Study-wide	140074	G=0.470623	A=0.529377
gnomAD - Genomes	European	Sub	75880	G=0.41699	A=0.58301
gnomAD - Genomes	African	Sub	41952	G=0.61504	A=0.38496
gnomAD - Genomes	American	Sub	13648	G=0.39017	A=0.60983
gnomAD - Genomes	Ashkenazi Jewish	Sub	3316	G=0.4563	A=0.5437
gnomAD - Genomes	East Asian	Sub	3126	G=0.2015	A=0.7985
gnomAD - Genomes	Other	Sub	2152	G=0.4698	A=0.5302
ExAC	Global	Study-wide	121306	G=0.379116	A=0.620884
ExAC	Europe	Sub	73302	G=0.41693	A=0.58307
ExAC	Asian	Sub	25150	G=0.22083	A=0.77917
ExAC	American	Sub	11568	G=0.26210	A=0.73790
ExAC	African	Sub	10378	G=0.62546	A=0.37454
ExAC	Other	Sub	908	G=0.385	A=0.615
The PAGE Study	Global	Study-wide	78650	G=0.45964	A=0.54036
The PAGE Study	AfricanAmerican	Sub	32492	G=0.61120	A=0.38880
The PAGE Study	Mexican	Sub	10802	G=0.29939	A=0.70061
The PAGE Study	Asian	Sub	8314	G=0.1957	A=0.8043
The PAGE Study	PuertoRican	Sub	7912	G=0.4767	A=0.5233
The PAGE Study	NativeHawaiian	Sub	4534	G=0.2986	A=0.7014
The PAGE Study	Cuban	Sub	4228	G=0.5071	A=0.4929
The PAGE Study	Dominican	Sub	3826	G=0.5366	A=0.4634
The PAGE Study	CentralAmerican	Sub	2448	G=0.3346	A=0.6654
The PAGE Study	SouthAmerican	Sub	1980	G=0.2975	A=0.7025
The PAGE Study	NativeAmerican	Sub	1258	G=0.4157	A=0.5843
The PAGE Study	SouthAsian	Sub	856	G=0.207	A=0.793
14KJPN	JAPANESE	Study-wide	28252	G=0.19146	A=0.80854
8.3KJPN	JAPANESE	Study-wide	16754	G=0.19243	A=0.80757
GO Exome Sequencing Project	Global	Study-wide	13006	G=0.49823	A=0.50177
GO Exome Sequencing Project	European American	Sub	8600	G=0.4415	A=0.5585
GO Exome Sequencing Project	African American	Sub	4406	G=0.6089	A=0.3911
1000Genomes_30x	Global	Study-wide	6404	G=0.3962	A=0.6038
1000Genomes_30x	African	Sub	1786	G=0.6405	A=0.3595
1000Genomes_30x	Europe	Sub	1266	G=0.4384	A=0.5616
1000Genomes_30x	South Asian	Sub	1202	G=0.2238	A=0.7762
1000Genomes_30x	East Asian	Sub	1170	G=0.1957	A=0.8043
1000Genomes_30x	American	Sub	980	G=0.347	A=0.653
1000Genomes	Global	Study-wide	5008	G=0.3908	A=0.6092
1000Genomes	African	Sub	1322	G=0.6331	A=0.3669
1000Genomes	East Asian	Sub	1008	G=0.2014	A=0.7986
1000Genomes	Europe	Sub	1006	G=0.4443	A=0.5557
1000Genomes	South Asian	Sub	978	G=0.226	A=0.774
1000Genomes	American	Sub	694	G=0.359	A=0.641
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.3926	A=0.6074
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.4507	A=0.5493
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.4420	A=0.5580
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.1655	A=0.8345, C=0.0000
HapMap	Global	Study-wide	1892	G=0.4588	A=0.5412
HapMap	American	Sub	770	G=0.344	A=0.656
HapMap	African	Sub	692	G=0.663	A=0.337
HapMap	Asian	Sub	254	G=0.177	A=0.823
HapMap	Europe	Sub	176	G=0.562	A=0.438
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.472	A=0.528
CNV burdens in cranial meningiomas	Global	Study-wide	792	G=0.182	A=0.818
CNV burdens in cranial meningiomas	CRM	Sub	792	G=0.182	A=0.818
A Vietnamese Genetic Variation Database	Global	Study-wide	608	G=0.237	A=0.763
Northern Sweden	ACPOP	Study-wide	600	G=0.378	A=0.622
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	G=0.663	A=0.337
SGDP_PRJ	Global	Study-wide	478	G=0.228	A=0.772
FINRISK	Finnish from FINRISK project	Study-wide	302	G=0.275	A=0.725
Qatari	Global	Study-wide	216	G=0.389	A=0.611
Siberian	Global	Study-wide	52	G=0.13	A=0.87
Ancient Sardinia genome-wide 1240k capture data generation and analysis	Global	Study-wide	48	G=0.38	A=0.62

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 17	NC_000017.11:g.45845814G>A
GRCh38.p14 chr 17	NC_000017.11:g.45845814G>C
GRCh38.p14 chr 17	NC_000017.11:g.45845814G>T
GRCh37.p13 chr 17	NC_000017.10:g.43923180G>A
GRCh37.p13 chr 17	NC_000017.10:g.43923180G>C
GRCh37.p13 chr 17	NC_000017.10:g.43923180G>T
GRCh38.p14 chr 17 alt locus HSCHR17_1_CTG5	NT_167251.2:g.942367C>T
GRCh38.p14 chr 17 alt locus HSCHR17_1_CTG5	NT_167251.2:g.942367C>G
GRCh38.p14 chr 17 alt locus HSCHR17_1_CTG5	NT_167251.2:g.942367C>A
GRCh37.p13 chr 17 alt locus HSCHR17_1_CTG5	NT_167251.1:g.944360C>T
GRCh37.p13 chr 17 alt locus HSCHR17_1_CTG5	NT_167251.1:g.944360C>G
GRCh37.p13 chr 17 alt locus HSCHR17_1_CTG5	NT_167251.1:g.944360C>A
GRCh38.p14 chr 17 alt locus HSCHR17_2_CTG5	NT_187663.1:g.547935A>G
GRCh38.p14 chr 17 alt locus HSCHR17_2_CTG5	NT_187663.1:g.547935A>C
GRCh38.p14 chr 17 alt locus HSCHR17_2_CTG5	NT_187663.1:g.547935A>T

Gene: SPPL2C, signal peptide peptidase like 2C (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
SPPL2C transcript	NM_175882.3:c.908G>A	R [CGC] > H [CAC]	Coding Sequence Variant
signal peptide peptidase-like 2C precursor	NP_787078.2:p.Arg303His	R (Arg) > H (His)	Missense Variant
SPPL2C transcript	NM_175882.3:c.908G>C	R [CGC] > P [CCC]	Coding Sequence Variant
signal peptide peptidase-like 2C precursor	NP_787078.2:p.Arg303Pro	R (Arg) > P (Pro)	Missense Variant
SPPL2C transcript	NM_175882.3:c.908G>T	R [CGC] > L [CTC]	Coding Sequence Variant
signal peptide peptidase-like 2C precursor	NP_787078.2:p.Arg303Leu	R (Arg) > L (Leu)	Missense Variant

Gene: MAPT-AS1, MAPT antisense RNA 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
MAPT-AS1 transcript	NR_024559.1:n.	N/A	Intron Variant

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

Not Reported in ClinVar

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

Placement	G=	A	C	T
GRCh38.p14 chr 17	NC_000017.11:g.45845814=	NC_000017.11:g.45845814G>A	NC_000017.11:g.45845814G>C	NC_000017.11:g.45845814G>T
GRCh37.p13 chr 17	NC_000017.10:g.43923180=	NC_000017.10:g.43923180G>A	NC_000017.10:g.43923180G>C	NC_000017.10:g.43923180G>T
GRCh38.p14 chr 17 alt locus HSCHR17_1_CTG5	NT_167251.2:g.942367=	NT_167251.2:g.942367C>T	NT_167251.2:g.942367C>G	NT_167251.2:g.942367C>A
GRCh37.p13 chr 17 alt locus HSCHR17_1_CTG5	NT_167251.1:g.944360=	NT_167251.1:g.944360C>T	NT_167251.1:g.944360C>G	NT_167251.1:g.944360C>A
GRCh38.p14 chr 17 alt locus HSCHR17_2_CTG5	NT_187663.1:g.547935A>G	NT_187663.1:g.547935=	NT_187663.1:g.547935A>C	NT_187663.1:g.547935A>T
SPPL2C transcript	NM_175882.3:c.908=	NM_175882.3:c.908G>A	NM_175882.3:c.908G>C	NM_175882.3:c.908G>T
SPPL2C transcript	NM_175882.2:c.908=	NM_175882.2:c.908G>A	NM_175882.2:c.908G>C	NM_175882.2:c.908G>T
signal peptide peptidase-like 2C precursor	NP_787078.2:p.Arg303=	NP_787078.2:p.Arg303His	NP_787078.2:p.Arg303Pro	NP_787078.2:p.Arg303Leu

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#.

169 SubSNP, 26 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	KWOK	ss312611	Jul 12, 2000 (79)
2	KWOK	ss1246069	Oct 04, 2000 (86)
3	KWOK	ss1844524	Oct 18, 2000 (87)
4	SC_JCM	ss3534633	Sep 28, 2001 (100)
5	SSAHASNP	ss21381353	Apr 05, 2004 (121)
6	PERLEGEN	ss24592479	Sep 20, 2004 (123)
7	ILLUMINA	ss65726911	Oct 16, 2006 (127)
8	ILLUMINA	ss66613473	Dec 02, 2006 (127)
9	ILLUMINA	ss67254043	Dec 02, 2006 (127)
10	ILLUMINA	ss67652124	Dec 02, 2006 (127)
11	PERLEGEN	ss69196852	May 18, 2007 (127)
12	ILLUMINA	ss70732391	May 23, 2008 (130)
13	ILLUMINA	ss71302046	May 18, 2007 (127)
14	ILLUMINA	ss75445130	Dec 06, 2007 (129)
15	ILLUMINA	ss79134893	Dec 14, 2007 (130)
16	HGSV	ss80894914	Dec 14, 2007 (130)
17	KRIBB_YJKIM	ss83399613	Dec 14, 2007 (130)
18	HGSV	ss86018601	Dec 14, 2007 (130)
19	BCMHGSC_JDW	ss90596524	Mar 24, 2008 (129)
20	HUMANGENOME_JCVI	ss96547190	Feb 04, 2009 (130)
21	1000GENOMES	ss113563776	Jan 25, 2009 (137)
22	ILLUMINA-UK	ss118061006	Feb 14, 2009 (130)
23	ILLUMINA	ss122034507	Dec 01, 2009 (131)
24	ENSEMBL	ss136561838	Dec 01, 2009 (131)
25	ILLUMINA	ss153912030	Dec 01, 2009 (131)
26	ILLUMINA	ss159389847	Dec 01, 2009 (131)
27	SEATTLESEQ	ss159735623	Dec 01, 2009 (131)
28	ILLUMINA	ss160547296	Dec 01, 2009 (131)
29	COMPLETE_GENOMICS	ss168206234	Jul 04, 2010 (132)
30	ILLUMINA	ss171255953	Jul 04, 2010 (132)
31	COMPLETE_GENOMICS	ss171440979	Jul 04, 2010 (132)
32	ILLUMINA	ss173342936	Jul 04, 2010 (132)
33	BUSHMAN	ss202543704	Jul 04, 2010 (132)
34	BCM-HGSC-SUB	ss207944547	Jul 04, 2010 (132)
35	1000GENOMES	ss227556872	Jul 14, 2010 (137)
36	1000GENOMES	ss237250454	Jul 15, 2010 (137)
37	1000GENOMES	ss243546716	Jul 15, 2010 (137)
38	GMI	ss282773267	May 04, 2012 (137)
39	PJP	ss292055652	May 09, 2011 (137)
40	NHLBI-ESP	ss342456763	May 09, 2011 (137)
41	ILLUMINA	ss480568074	May 04, 2012 (137)
42	ILLUMINA	ss480582546	May 04, 2012 (137)
43	ILLUMINA	ss481403427	Sep 08, 2015 (146)
44	ILLUMINA	ss485079614	May 04, 2012 (137)
45	1000GENOMES	ss491125633	May 04, 2012 (137)
46	EXOME_CHIP	ss491523764	May 04, 2012 (137)
47	CLINSEQ_SNP	ss491738281	May 04, 2012 (137)
48	ILLUMINA	ss537090441	Sep 08, 2015 (146)
49	TISHKOFF	ss565285743	Apr 25, 2013 (138)
50	SSMP	ss661089304	Apr 25, 2013 (138)
51	ROSENBERGLAB	ss749613614	Aug 21, 2014 (142)
52	ILLUMINA	ss778496082	Sep 08, 2015 (146)
53	ILLUMINA	ss782986106	Aug 21, 2014 (142)
54	ILLUMINA	ss783947014	Sep 08, 2015 (146)
55	ILLUMINA	ss825465411	Apr 01, 2015 (144)
56	ILLUMINA	ss832242781	Apr 01, 2015 (144)
57	ILLUMINA	ss832901602	Aug 21, 2014 (142)
58	ILLUMINA	ss833492432	Aug 21, 2014 (142)
59	ILLUMINA	ss833952137	Sep 08, 2015 (146)
60	EVA-GONL	ss993129626	Aug 21, 2014 (142)
61	JMKIDD_LAB	ss1067572311	Aug 21, 2014 (142)
62	JMKIDD_LAB	ss1081072604	Aug 21, 2014 (142)
63	1000GENOMES	ss1358744513	Aug 21, 2014 (142)
64	DDI	ss1428038893	Apr 01, 2015 (144)
65	EVA_FINRISK	ss1584106836	Apr 01, 2015 (144)
66	EVA_UK10K_ALSPAC	ss1635695172	Apr 01, 2015 (144)
67	EVA_UK10K_TWINSUK	ss1678689205	Apr 01, 2015 (144)
68	EVA_EXAC	ss1692827854	Apr 01, 2015 (144)
69	EVA_MGP	ss1711463505	Apr 01, 2015 (144)
70	EVA_SVP	ss1713583938	Apr 01, 2015 (144)
71	ILLUMINA	ss1752227394	Sep 08, 2015 (146)
72	HAMMER_LAB	ss1808792413	Sep 08, 2015 (146)
73	WEILL_CORNELL_DGM	ss1936590892	Feb 12, 2016 (147)
74	ILLUMINA	ss1946451742	Feb 12, 2016 (147)
75	ILLUMINA	ss1959749890	Feb 12, 2016 (147)
76	GENOMED	ss1968393654	Jul 19, 2016 (147)
77	JJLAB	ss2029071559	Sep 14, 2016 (149)
78	USC_VALOUEV	ss2157544528	Dec 20, 2016 (150)
79	HUMAN_LONGEVITY	ss2217016864	Dec 20, 2016 (150)
80	SYSTEMSBIOZJU	ss2629031542	Nov 08, 2017 (151)
81	ILLUMINA	ss2633399281	Nov 08, 2017 (151)
82	ILLUMINA	ss2635070610	Nov 08, 2017 (151)
83	GRF	ss2702105942	Nov 08, 2017 (151)
84	ILLUMINA	ss2710850113	Nov 08, 2017 (151)
85	GNOMAD	ss2742794730	Nov 08, 2017 (151)
86	GNOMAD	ss2749797684	Nov 08, 2017 (151)
87	AFFY	ss2985097717	Nov 08, 2017 (151)
88	AFFY	ss2985732386	Nov 08, 2017 (151)
89	SWEGEN	ss3015573479	Nov 08, 2017 (151)
90	ILLUMINA	ss3021783539	Nov 08, 2017 (151)
91	EVA_SAMSUNG_MC	ss3023070745	Nov 08, 2017 (151)
92	BIOINF_KMB_FNS_UNIBA	ss3028356534	Nov 08, 2017 (151)
93	ILLUMINA	ss3625712183	Oct 12, 2018 (152)
94	ILLUMINA	ss3627675066	Oct 12, 2018 (152)
95	ILLUMINA	ss3631380181	Oct 12, 2018 (152)
96	ILLUMINA	ss3633142194	Oct 12, 2018 (152)
97	ILLUMINA	ss3633849789	Oct 12, 2018 (152)
98	ILLUMINA	ss3634676769	Oct 12, 2018 (152)
99	ILLUMINA	ss3635537529	Oct 12, 2018 (152)
100	ILLUMINA	ss3636366308	Oct 12, 2018 (152)
101	ILLUMINA	ss3637289080	Oct 12, 2018 (152)
102	ILLUMINA	ss3638163005	Oct 12, 2018 (152)
103	ILLUMINA	ss3639090467	Oct 12, 2018 (152)
104	ILLUMINA	ss3639552282	Oct 12, 2018 (152)
105	ILLUMINA	ss3640384081	Oct 12, 2018 (152)
106	ILLUMINA	ss3641081307	Oct 12, 2018 (152)
107	ILLUMINA	ss3641376805	Oct 12, 2018 (152)
108	ILLUMINA	ss3643141303	Oct 12, 2018 (152)
109	ILLUMINA	ss3644689390	Oct 12, 2018 (152)
110	OMUKHERJEE_ADBS	ss3646512497	Oct 12, 2018 (152)
111	ILLUMINA	ss3652200385	Oct 12, 2018 (152)
112	ILLUMINA	ss3652200386	Oct 12, 2018 (152)
113	ILLUMINA	ss3653869082	Oct 12, 2018 (152)
114	EGCUT_WGS	ss3682455694	Jul 13, 2019 (153)
115	EVA_DECODE	ss3700511705	Jul 13, 2019 (153)
116	ILLUMINA	ss3725624705	Jul 13, 2019 (153)
117	ACPOP	ss3742044451	Jul 13, 2019 (153)
118	ILLUMINA	ss3744150453	Jul 13, 2019 (153)
119	ILLUMINA	ss3744444985	Jul 13, 2019 (153)
120	ILLUMINA	ss3744977062	Jul 13, 2019 (153)
121	EVA	ss3754693286	Jul 13, 2019 (153)
122	PAGE_CC	ss3771930210	Jul 13, 2019 (153)
123	ILLUMINA	ss3772474920	Jul 13, 2019 (153)
124	PACBIO	ss3788211416	Jul 13, 2019 (153)
125	PACBIO	ss3793167374	Jul 13, 2019 (153)
126	PACBIO	ss3798053233	Jul 13, 2019 (153)
127	KHV_HUMAN_GENOMES	ss3819961602	Jul 13, 2019 (153)
128	EVA	ss3825123902	Apr 27, 2020 (154)
129	EVA	ss3825531540	Apr 27, 2020 (154)
130	EVA	ss3825546250	Apr 27, 2020 (154)
131	EVA	ss3825901250	Apr 27, 2020 (154)
132	EVA	ss3834878616	Apr 27, 2020 (154)
133	EVA	ss3841049417	Apr 27, 2020 (154)
134	EVA	ss3846546474	Apr 27, 2020 (154)
135	HGDP	ss3847564584	Apr 27, 2020 (154)
136	SGDP_PRJ	ss3885796532	Apr 27, 2020 (154)
137	KRGDB	ss3935495552	Apr 27, 2020 (154)
138	FSA-LAB	ss3984117216	Apr 27, 2021 (155)
139	EVA	ss3984723579	Apr 27, 2021 (155)
140	EVA	ss3985792199	Apr 27, 2021 (155)
141	EVA	ss3986074828	Apr 27, 2021 (155)
142	EVA	ss3986730549	Apr 27, 2021 (155)
143	TOPMED	ss5036777962	Apr 27, 2021 (155)
144	TOMMO_GENOMICS	ss5222528347	Apr 27, 2021 (155)
145	EVA	ss5236943838	Apr 27, 2021 (155)
146	EVA	ss5237239572	Apr 27, 2021 (155)
147	1000G_HIGH_COVERAGE	ss5303214989	Oct 16, 2022 (156)
148	EVA	ss5315888033	Oct 16, 2022 (156)
149	EVA	ss5427740143	Oct 16, 2022 (156)
150	HUGCELL_USP	ss5496259295	Oct 16, 2022 (156)
151	EVA	ss5511772597	Oct 16, 2022 (156)
152	1000G_HIGH_COVERAGE	ss5606973440	Oct 16, 2022 (156)
153	EVA	ss5623971543	Oct 16, 2022 (156)
154	SANFORD_IMAGENETICS	ss5624397726	Oct 16, 2022 (156)
155	SANFORD_IMAGENETICS	ss5660147967	Oct 16, 2022 (156)
156	TOMMO_GENOMICS	ss5778776554	Oct 16, 2022 (156)
157	EVA	ss5799976134	Oct 16, 2022 (156)
158	EVA	ss5800209392	Oct 16, 2022 (156)
159	YY_MCH	ss5816560929	Oct 16, 2022 (156)
160	EVA	ss5834015069	Oct 16, 2022 (156)
161	EVA	ss5847475097	Oct 16, 2022 (156)
162	EVA	ss5847799058	Oct 16, 2022 (156)
163	EVA	ss5848451299	Oct 16, 2022 (156)
164	EVA	ss5851816152	Oct 16, 2022 (156)
165	EVA	ss5936567966	Oct 16, 2022 (156)
166	EVA	ss5951539250	Oct 16, 2022 (156)
167	EVA	ss5979508017	Oct 16, 2022 (156)
168	EVA	ss5980969218	Oct 16, 2022 (156)
169	EVA	ss5981301941	Oct 16, 2022 (156)
170	1000Genomes	NC_000017.10 - 43923180	Oct 12, 2018 (152)
171	1000Genomes_30x	NC_000017.11 - 45845814	Oct 16, 2022 (156)
172	The Avon Longitudinal Study of Parents and Children	NC_000017.10 - 43923180	Oct 12, 2018 (152)
173	Genetic variation in the Estonian population	NC_000017.10 - 43923180	Oct 12, 2018 (152)
174	ExAC	NC_000017.10 - 43923180	Oct 12, 2018 (152)
175	FINRISK	NC_000017.10 - 43923180	Apr 27, 2020 (154)
176	gnomAD - Genomes	NC_000017.11 - 45845814	Apr 27, 2021 (155)
177	gnomAD - Exomes	NC_000017.10 - 43923180	Jul 13, 2019 (153)
178	GO Exome Sequencing Project	NC_000017.10 - 43923180	Oct 12, 2018 (152)
179	Genome of the Netherlands Release 5	NC_000017.10 - 43923180	Apr 27, 2020 (154)
180	HapMap	NC_000017.11 - 45845814	Apr 27, 2020 (154)
181	KOREAN population from KRGDB	NC_000017.10 - 43923180	Apr 27, 2020 (154)
182	Medical Genome Project healthy controls from Spanish population	NC_000017.10 - 43923180	Apr 27, 2020 (154)
183	Northern Sweden	NC_000017.10 - 43923180	Jul 13, 2019 (153)
184	The PAGE Study	NC_000017.11 - 45845814	Jul 13, 2019 (153)
185	Ancient Sardinia genome-wide 1240k capture data generation and analysis	NC_000017.10 - 43923180	Apr 27, 2021 (155)
186	CNV burdens in cranial meningiomas	NC_000017.10 - 43923180	Apr 27, 2021 (155)
187	Qatari	NC_000017.10 - 43923180	Apr 27, 2020 (154)
188	SGDP_PRJ	NC_000017.10 - 43923180	Apr 27, 2020 (154)
189	Siberian	NC_000017.10 - 43923180	Apr 27, 2020 (154)
190	8.3KJPN	NC_000017.10 - 43923180	Apr 27, 2021 (155)
191	14KJPN	NC_000017.11 - 45845814	Oct 16, 2022 (156)
192	TopMed	NC_000017.11 - 45845814	Apr 27, 2021 (155)
193	UK 10K study - Twins	NC_000017.10 - 43923180	Oct 12, 2018 (152)
194	A Vietnamese Genetic Variation Database	NC_000017.10 - 43923180	Jul 13, 2019 (153)
195	ALFA	NC_000017.11 - 45845814	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)
rs17690422	Oct 08, 2004 (123)
rs57248845	May 23, 2008 (130)
rs115372537	May 04, 2012 (137)
rs117233379	Aug 16, 2010 (132)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss80894914, ss86018601, ss90596524, ss113563776, ss118061006, ss160547296, ss168206234, ss171440979, ss202543704, ss207944547, ss282773267, ss292055652, ss480568074, ss491738281, ss749613614, ss825465411, ss1713583938, ss2635070610, ss3639090467, ss3639552282, ss3643141303, ss3847564584	NC_000017.9:41278959:A:A	NC_000017.11:45845813:G:A	(self)
71989609, 39895827, 28193942, 3274770, 103297, 12099767, 1580980, 17780288, 42672946, 579265, 15329316, 1018126, 273127, 18632814, 37813512, 10060882, 80497654, 39895827, 8826363, ss227556872, ss237250454, ss243546716, ss342456763, ss480582546, ss481403427, ss485079614, ss491125633, ss491523764, ss537090441, ss565285743, ss661089304, ss778496082, ss782986106, ss783947014, ss832242781, ss832901602, ss833492432, ss833952137, ss993129626, ss1067572311, ss1081072604, ss1358744513, ss1428038893, ss1584106836, ss1635695172, ss1678689205, ss1692827854, ss1711463505, ss1752227394, ss1808792413, ss1936590892, ss1946451742, ss1959749890, ss1968393654, ss2029071559, ss2157544528, ss2629031542, ss2633399281, ss2702105942, ss2710850113, ss2742794730, ss2749797684, ss2985097717, ss2985732386, ss3015573479, ss3021783539, ss3023070745, ss3625712183, ss3627675066, ss3631380181, ss3633142194, ss3633849789, ss3634676769, ss3635537529, ss3636366308, ss3637289080, ss3638163005, ss3640384081, ss3641081307, ss3641376805, ss3644689390, ss3646512497, ss3652200385, ss3652200386, ss3653869082, ss3682455694, ss3742044451, ss3744150453, ss3744444985, ss3744977062, ss3754693286, ss3772474920, ss3788211416, ss3793167374, ss3798053233, ss3825123902, ss3825531540, ss3825546250, ss3825901250, ss3834878616, ss3841049417, ss3885796532, ss3935495552, ss3984117216, ss3984723579, ss3985792199, ss3986074828, ss3986730549, ss5222528347, ss5315888033, ss5427740143, ss5511772597, ss5623971543, ss5624397726, ss5660147967, ss5799976134, ss5800209392, ss5834015069, ss5847475097, ss5847799058, ss5848451299, ss5936567966, ss5951539250, ss5979508017, ss5980969218, ss5981301941	NC_000017.10:43923179:G:A	NC_000017.11:45845813:G:A	(self)
94499375, 507929273, 1491425, 1151679, 112613658, 252323624, 1755313047, ss2217016864, ss3028356534, ss3700511705, ss3725624705, ss3771930210, ss3819961602, ss3846546474, ss5036777962, ss5236943838, ss5237239572, ss5303214989, ss5496259295, ss5606973440, ss5778776554, ss5816560929, ss5851816152	NC_000017.11:45845813:G:A	NC_000017.11:45845813:G:A	(self)
ss21381353	NT_010783.14:2577238:A:A	NC_000017.11:45845813:G:A	(self)
ss312611, ss1246069, ss1844524, ss3534633, ss24592479, ss65726911, ss66613473, ss67254043, ss67652124, ss69196852, ss70732391, ss71302046, ss75445130, ss79134893, ss83399613, ss96547190, ss122034507, ss136561838, ss153912030, ss159389847, ss159735623, ss171255953, ss173342936	NT_010783.15:9197331:G:A	NC_000017.11:45845813:G:A	(self)
42672946, ss3935495552	NC_000017.10:43923179:G:C	NC_000017.11:45845813:G:C	(self)
1755313047	NC_000017.11:45845813:G:C	NC_000017.11:45845813:G:C	(self)
1755313047	NC_000017.11:45845813:G:T	NC_000017.11:45845813:G:T	(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 rs242944

PMID	Title	Author	Year	Journal
22258127	Variations in CRHR1 are associated with persistent pulmonary hypertension of the newborn.	Byers HM et al.	2012	Pediatric research

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs242944