Name: rs1230678
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.

rs1230678

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:113755798 (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>C / T>G
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.261604 (69244/264690, TOPMED)
G=0.247879 (34658/139818, GnomAD)
T=0.40951 (11571/28256, 14KJPN) (+ 16 more)
G=0.24815 (4687/18888, ALFA)
T=0.41277 (6918/16760, 8.3KJPN)
G=0.3153 (2019/6404, 1000G_30x)
G=0.3213 (1609/5008, 1000G)
G=0.2585 (1158/4480, Estonian)
G=0.2496 (962/3854, ALSPAC)
G=0.2416 (896/3708, TWINSUK)
T=0.3590 (1052/2930, KOREAN)
T=0.3597 (659/1832, Korea1K)
G=0.223 (223/998, GoNL)
G=0.235 (141/600, NorthernSweden)
T=0.388 (107/276, SGDP_PRJ)
G=0.324 (70/216, Qatari)
T=0.476 (98/206, Vietnamese)
G=0.28 (11/40, GENOME_DK)
T=0.38 (10/26, Siberian)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: PHTF1 : Intron 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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	18888	T=0.75185	G=0.24815
European	Sub	14284	T=0.74678	G=0.25322
African	Sub	2946	T=0.8337	G=0.1663
African Others	Sub	114	T=0.798	G=0.202
African American	Sub	2832	T=0.8351	G=0.1649
Asian	Sub	112	T=0.464	G=0.536
East Asian	Sub	86	T=0.38	G=0.62
Other Asian	Sub	26	T=0.73	G=0.27
Latin American 1	Sub	146	T=0.699	G=0.301
Latin American 2	Sub	610	T=0.548	G=0.452
South Asian	Sub	98	T=0.83	G=0.17
Other	Sub	692	T=0.736	G=0.264

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	T=0.738396	G=0.261604
gnomAD - Genomes	Global	Study-wide	139818	T=0.752121	G=0.247879
gnomAD - Genomes	European	Sub	75760	T=0.74621	G=0.25379
gnomAD - Genomes	African	Sub	41882	T=0.82864	G=0.17136
gnomAD - Genomes	American	Sub	13596	T=0.63261	G=0.36739
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	T=0.7601	G=0.2399
gnomAD - Genomes	East Asian	Sub	3118	T=0.3881	G=0.6119
gnomAD - Genomes	Other	Sub	2144	T=0.7411	G=0.2589
14KJPN	JAPANESE	Study-wide	28256	T=0.40951	G=0.59049
Allele Frequency Aggregator	Total	Global	18888	T=0.75185	G=0.24815
Allele Frequency Aggregator	European	Sub	14284	T=0.74678	G=0.25322
Allele Frequency Aggregator	African	Sub	2946	T=0.8337	G=0.1663
Allele Frequency Aggregator	Other	Sub	692	T=0.736	G=0.264
Allele Frequency Aggregator	Latin American 2	Sub	610	T=0.548	G=0.452
Allele Frequency Aggregator	Latin American 1	Sub	146	T=0.699	G=0.301
Allele Frequency Aggregator	Asian	Sub	112	T=0.464	G=0.536
Allele Frequency Aggregator	South Asian	Sub	98	T=0.83	G=0.17
8.3KJPN	JAPANESE	Study-wide	16760	T=0.41277	G=0.58723
1000Genomes_30x	Global	Study-wide	6404	T=0.6847	G=0.3153
1000Genomes_30x	African	Sub	1786	T=0.8387	G=0.1613
1000Genomes_30x	Europe	Sub	1266	T=0.7409	G=0.2591
1000Genomes_30x	South Asian	Sub	1202	T=0.7762	G=0.2238
1000Genomes_30x	East Asian	Sub	1170	T=0.3889	G=0.6111
1000Genomes_30x	American	Sub	980	T=0.572	G=0.428
1000Genomes	Global	Study-wide	5008	T=0.6787	G=0.3213
1000Genomes	African	Sub	1322	T=0.8343	G=0.1657
1000Genomes	East Asian	Sub	1008	T=0.3948	G=0.6052
1000Genomes	Europe	Sub	1006	T=0.7406	G=0.2594
1000Genomes	South Asian	Sub	978	T=0.774	G=0.226
1000Genomes	American	Sub	694	T=0.571	G=0.429
Genetic variation in the Estonian population	Estonian	Study-wide	4480	T=0.7415	G=0.2585
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	T=0.7504	G=0.2496
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	T=0.7584	G=0.2416
KOREAN population from KRGDB	KOREAN	Study-wide	2930	T=0.3590	C=0.0000, G=0.6410
Korean Genome Project	KOREAN	Study-wide	1832	T=0.3597	G=0.6403
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	T=0.777	G=0.223
Northern Sweden	ACPOP	Study-wide	600	T=0.765	G=0.235
SGDP_PRJ	Global	Study-wide	276	T=0.388	G=0.612
Qatari	Global	Study-wide	216	T=0.676	G=0.324
A Vietnamese Genetic Variation Database	Global	Study-wide	206	T=0.476	G=0.524
The Danish reference pan genome	Danish	Study-wide	40	T=0.72	G=0.28
Siberian	Global	Study-wide	26	T=0.38	G=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 1	NC_000001.11:g.113755798T>C
GRCh38.p14 chr 1	NC_000001.11:g.113755798T>G
GRCh37.p13 chr 1	NC_000001.10:g.114298420T>C
GRCh37.p13 chr 1	NC_000001.10:g.114298420T>G

Gene: PHTF1, putative homeodomain transcription factor 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PHTF1 transcript variant 2	NM_001323041.2:c.102+1901… NM_001323041.2:c.102+1901A>G	N/A	Intron Variant
PHTF1 transcript variant 3	NM_001323042.2:c.102+1901… NM_001323042.2:c.102+1901A>G	N/A	Intron Variant
PHTF1 transcript variant 4	NM_001323043.2:c.102+1901… NM_001323043.2:c.102+1901A>G	N/A	Intron Variant
PHTF1 transcript variant 5	NM_001323044.2:c.-109+190… NM_001323044.2:c.-109+1901A>G	N/A	Intron Variant
PHTF1 transcript variant 6	NM_001323045.2:c.-109+190… NM_001323045.2:c.-109+1901A>G	N/A	Intron Variant
PHTF1 transcript variant 7	NM_001323046.2:c.-368+190… NM_001323046.2:c.-368+1901A>G	N/A	Intron Variant
PHTF1 transcript variant 8	NM_001323047.2:c.102+1901… NM_001323047.2:c.102+1901A>G	N/A	Intron Variant
PHTF1 transcript variant 9	NM_001323048.2:c.102+1901… NM_001323048.2:c.102+1901A>G	N/A	Intron Variant
PHTF1 transcript variant 10	NM_001323049.2:c.102+1901… NM_001323049.2:c.102+1901A>G	N/A	Intron Variant
PHTF1 transcript variant 11	NM_001323050.2:c.-109+190… NM_001323050.2:c.-109+1901A>G	N/A	Intron Variant
PHTF1 transcript variant 12	NM_001323051.2:c.-109+190… NM_001323051.2:c.-109+1901A>G	N/A	Intron Variant
PHTF1 transcript variant 13	NM_001323052.2:c.102+1901… NM_001323052.2:c.102+1901A>G	N/A	Intron Variant
PHTF1 transcript variant 14	NM_001323053.2:c.102+1901… NM_001323053.2:c.102+1901A>G	N/A	Intron Variant
PHTF1 transcript variant 1	NM_006608.3:c.102+1901A>G	N/A	Intron Variant
PHTF1 transcript variant 15	NR_136564.2:n.	N/A	Intron Variant
PHTF1 transcript variant 16	NR_136565.2:n.	N/A	Intron Variant
PHTF1 transcript variant 17	NR_136566.2:n.	N/A	Intron Variant
PHTF1 transcript variant 18	NR_136567.2:n.	N/A	Intron Variant
PHTF1 transcript variant 19	NR_136568.2: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	T=	C	G
GRCh38.p14 chr 1	NC_000001.11:g.113755798=	NC_000001.11:g.113755798T>C	NC_000001.11:g.113755798T>G
GRCh37.p13 chr 1	NC_000001.10:g.114298420=	NC_000001.10:g.114298420T>C	NC_000001.10:g.114298420T>G
PHTF1 transcript variant 2	NM_001323041.2:c.102+1901=	NM_001323041.2:c.102+1901A>G	NM_001323041.2:c.102+1901A>C
PHTF1 transcript variant 3	NM_001323042.2:c.102+1901=	NM_001323042.2:c.102+1901A>G	NM_001323042.2:c.102+1901A>C
PHTF1 transcript variant 4	NM_001323043.2:c.102+1901=	NM_001323043.2:c.102+1901A>G	NM_001323043.2:c.102+1901A>C
PHTF1 transcript variant 5	NM_001323044.2:c.-109+1901=	NM_001323044.2:c.-109+1901A>G	NM_001323044.2:c.-109+1901A>C
PHTF1 transcript variant 6	NM_001323045.2:c.-109+1901=	NM_001323045.2:c.-109+1901A>G	NM_001323045.2:c.-109+1901A>C
PHTF1 transcript variant 7	NM_001323046.2:c.-368+1901=	NM_001323046.2:c.-368+1901A>G	NM_001323046.2:c.-368+1901A>C
PHTF1 transcript variant 8	NM_001323047.2:c.102+1901=	NM_001323047.2:c.102+1901A>G	NM_001323047.2:c.102+1901A>C
PHTF1 transcript variant 9	NM_001323048.2:c.102+1901=	NM_001323048.2:c.102+1901A>G	NM_001323048.2:c.102+1901A>C
PHTF1 transcript variant 10	NM_001323049.2:c.102+1901=	NM_001323049.2:c.102+1901A>G	NM_001323049.2:c.102+1901A>C
PHTF1 transcript variant 11	NM_001323050.2:c.-109+1901=	NM_001323050.2:c.-109+1901A>G	NM_001323050.2:c.-109+1901A>C
PHTF1 transcript variant 12	NM_001323051.2:c.-109+1901=	NM_001323051.2:c.-109+1901A>G	NM_001323051.2:c.-109+1901A>C
PHTF1 transcript variant 13	NM_001323052.2:c.102+1901=	NM_001323052.2:c.102+1901A>G	NM_001323052.2:c.102+1901A>C
PHTF1 transcript variant 14	NM_001323053.2:c.102+1901=	NM_001323053.2:c.102+1901A>G	NM_001323053.2:c.102+1901A>C
PHTF1 transcript variant 1	NM_006608.2:c.102+1901=	NM_006608.2:c.102+1901A>G	NM_006608.2:c.102+1901A>C
PHTF1 transcript variant 1	NM_006608.3:c.102+1901=	NM_006608.3:c.102+1901A>G	NM_006608.3:c.102+1901A>C
PHTF1 transcript variant X1	XM_005270383.1:c.102+1901=	XM_005270383.1:c.102+1901A>G	XM_005270383.1:c.102+1901A>C
PHTF1 transcript variant X2	XM_005270384.1:c.102+1901=	XM_005270384.1:c.102+1901A>G	XM_005270384.1:c.102+1901A>C
PHTF1 transcript variant X4	XM_005270386.1:c.102+1901=	XM_005270386.1:c.102+1901A>G	XM_005270386.1:c.102+1901A>C
PHTF1 transcript variant X8	XM_005270387.1:c.102+1901=	XM_005270387.1:c.102+1901A>G	XM_005270387.1:c.102+1901A>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#.

63 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	KWOK	ss1826760	Oct 18, 2000 (87)
2	SC_JCM	ss3961760	Sep 28, 2001 (100)
3	CSHL-HAPMAP	ss17353614	Feb 27, 2004 (120)
4	CSHL-HAPMAP	ss19853461	Feb 27, 2004 (120)
5	ABI	ss41086773	Mar 14, 2006 (126)
6	BCMHGSC_JDW	ss87727228	Mar 23, 2008 (129)
7	ENSEMBL	ss138063440	Dec 01, 2009 (131)
8	GMI	ss155552600	Dec 01, 2009 (131)
9	ENSEMBL	ss161160623	Dec 01, 2009 (131)
10	1000GENOMES	ss230698669	Jul 14, 2010 (132)
11	1000GENOMES	ss238354934	Jul 15, 2010 (132)
12	GMI	ss275984702	May 04, 2012 (137)
13	GMI	ss284124175	Apr 25, 2013 (138)
14	PJP	ss290602298	May 09, 2011 (134)
15	TISHKOFF	ss554594838	Apr 25, 2013 (138)
16	SSMP	ss648324057	Apr 25, 2013 (138)
17	EVA-GONL	ss975588058	Aug 21, 2014 (142)
18	JMKIDD_LAB	ss1068205966	Aug 21, 2014 (142)
19	1000GENOMES	ss1292500452	Aug 21, 2014 (142)
20	DDI	ss1425942520	Apr 01, 2015 (144)
21	EVA_GENOME_DK	ss1574334266	Apr 01, 2015 (144)
22	EVA_DECODE	ss1584968925	Apr 01, 2015 (144)
23	EVA_UK10K_ALSPAC	ss1601026424	Apr 01, 2015 (144)
24	EVA_UK10K_TWINSUK	ss1644020457	Apr 01, 2015 (144)
25	WEILL_CORNELL_DGM	ss1918788305	Feb 12, 2016 (147)
26	GENOMED	ss1966845443	Jul 19, 2016 (147)
27	JJLAB	ss2019918564	Sep 14, 2016 (149)
28	USC_VALOUEV	ss2147937355	Dec 20, 2016 (150)
29	HUMAN_LONGEVITY	ss2165853936	Dec 20, 2016 (150)
30	SYSTEMSBIOZJU	ss2624468937	Nov 08, 2017 (151)
31	GRF	ss2697867686	Nov 08, 2017 (151)
32	GNOMAD	ss2759755267	Nov 08, 2017 (151)
33	SWEGEN	ss2987466666	Nov 08, 2017 (151)
34	BIOINF_KMB_FNS_UNIBA	ss3023723832	Nov 08, 2017 (151)
35	CSHL	ss3343643033	Nov 08, 2017 (151)
36	EGCUT_WGS	ss3655555552	Jul 12, 2019 (153)
37	EVA_DECODE	ss3687564517	Jul 12, 2019 (153)
38	ACPOP	ss3727403409	Jul 12, 2019 (153)
39	EVA	ss3746693085	Jul 12, 2019 (153)
40	PACBIO	ss3783524477	Jul 12, 2019 (153)
41	PACBIO	ss3789165521	Jul 12, 2019 (153)
42	PACBIO	ss3794038454	Jul 12, 2019 (153)
43	KHV_HUMAN_GENOMES	ss3799695844	Jul 12, 2019 (153)
44	EVA	ss3826378937	Apr 25, 2020 (154)
45	EVA	ss3836581165	Apr 25, 2020 (154)
46	EVA	ss3841989608	Apr 25, 2020 (154)
47	SGDP_PRJ	ss3849685248	Apr 25, 2020 (154)
48	KRGDB	ss3894783853	Apr 25, 2020 (154)
49	KOGIC	ss3945282310	Apr 25, 2020 (154)
50	TOPMED	ss4464206964	Apr 25, 2021 (155)
51	TOMMO_GENOMICS	ss5145758764	Apr 25, 2021 (155)
52	1000G_HIGH_COVERAGE	ss5243668527	Oct 12, 2022 (156)
53	EVA	ss5321292262	Oct 12, 2022 (156)
54	HUGCELL_USP	ss5444585958	Oct 12, 2022 (156)
55	EVA	ss5506002874	Oct 12, 2022 (156)
56	1000G_HIGH_COVERAGE	ss5516692184	Oct 12, 2022 (156)
57	SANFORD_IMAGENETICS	ss5626332022	Oct 12, 2022 (156)
58	TOMMO_GENOMICS	ss5671050670	Oct 12, 2022 (156)
59	YY_MCH	ss5800946547	Oct 12, 2022 (156)
60	EVA	ss5832506989	Oct 12, 2022 (156)
61	EVA	ss5849074808	Oct 12, 2022 (156)
62	EVA	ss5909868860	Oct 12, 2022 (156)
63	EVA	ss5938199698	Oct 12, 2022 (156)
64	1000Genomes	NC_000001.10 - 114298420	Oct 11, 2018 (152)
65	1000Genomes_30x	NC_000001.11 - 113755798	Oct 12, 2022 (156)
66	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 114298420	Oct 11, 2018 (152)
67	Genetic variation in the Estonian population	NC_000001.10 - 114298420	Oct 11, 2018 (152)
68	The Danish reference pan genome	NC_000001.10 - 114298420	Apr 25, 2020 (154)
69	gnomAD - Genomes	NC_000001.11 - 113755798	Apr 25, 2021 (155)
70	Genome of the Netherlands Release 5	NC_000001.10 - 114298420	Apr 25, 2020 (154)
71	KOREAN population from KRGDB	NC_000001.10 - 114298420	Apr 25, 2020 (154)
72	Korean Genome Project	NC_000001.11 - 113755798	Apr 25, 2020 (154)
73	Northern Sweden	NC_000001.10 - 114298420	Jul 12, 2019 (153)
74	Qatari	NC_000001.10 - 114298420	Apr 25, 2020 (154)
75	SGDP_PRJ	NC_000001.10 - 114298420	Apr 25, 2020 (154)
76	Siberian	NC_000001.10 - 114298420	Apr 25, 2020 (154)
77	8.3KJPN	NC_000001.10 - 114298420	Apr 25, 2021 (155)
78	14KJPN	NC_000001.11 - 113755798	Oct 12, 2022 (156)
79	TopMed	NC_000001.11 - 113755798	Apr 25, 2021 (155)
80	UK 10K study - Twins	NC_000001.10 - 114298420	Oct 11, 2018 (152)
81	A Vietnamese Genetic Variation Database	NC_000001.10 - 114298420	Jul 12, 2019 (153)
82	ALFA	NC_000001.11 - 113755798	Apr 25, 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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
1961247, ss3894783853	NC_000001.10:114298419:T:C	NC_000001.11:113755797:T:C	(self)
ss87727228, ss275984702, ss284124175, ss290602298, ss1584968925	NC_000001.9:114099942:T:G	NC_000001.11:113755797:T:G	(self)
3278799, 1813959, 1293800, 1671803, 788882, 1961247, 688274, 830235, 1702228, 453709, 3728071, 1813959, 392767, ss230698669, ss238354934, ss554594838, ss648324057, ss975588058, ss1068205966, ss1292500452, ss1425942520, ss1574334266, ss1601026424, ss1644020457, ss1918788305, ss1966845443, ss2019918564, ss2147937355, ss2624468937, ss2697867686, ss2759755267, ss2987466666, ss3343643033, ss3655555552, ss3727403409, ss3746693085, ss3783524477, ss3789165521, ss3794038454, ss3826378937, ss3836581165, ss3849685248, ss3894783853, ss5145758764, ss5321292262, ss5506002874, ss5626332022, ss5832506989, ss5938199698	NC_000001.10:114298419:T:G	NC_000001.11:113755797:T:G	(self)
4218119, 23191597, 1660311, 4887774, 27813299, 9438363634, ss2165853936, ss3023723832, ss3687564517, ss3799695844, ss3841989608, ss3945282310, ss4464206964, ss5243668527, ss5444585958, ss5516692184, ss5671050670, ss5800946547, ss5849074808, ss5909868860	NC_000001.11:113755797:T:G	NC_000001.11:113755797:T:G	(self)
ss17353614, ss19853461	NT_019273.16:5294367:T:G	NC_000001.11:113755797:T:G	(self)
ss1826760, ss3961760, ss41086773, ss138063440, ss155552600, ss161160623	NT_032977.9:84270337:T:G	NC_000001.11:113755797:T:G	(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 rs1230678

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

rs1230678