Name: rs6256
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.

rs6256

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr11:13492506 (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>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.121512 (32163/264690, TOPMED)
T=0.161057 (19544/121348, ExAC)
T=0.12523 (6955/55536, ALFA) (+ 19 more)
T=0.09923 (2804/28258, 14KJPN)
T=0.09715 (1628/16758, 8.3KJPN)
T=0.1494 (957/6404, 1000G_30x)
T=0.1514 (758/5008, 1000G)
T=0.1453 (651/4480, Estonian)
T=0.1570 (605/3854, ALSPAC)
T=0.1532 (568/3708, TWINSUK)
T=0.1290 (377/2922, KOREAN)
T=0.1255 (230/1832, Korea1K)
T=0.149 (149/998, GoNL)
T=0.110 (67/610, Vietnamese)
T=0.128 (77/600, NorthernSweden)
T=0.167 (89/534, MGP)
T=0.104 (34/328, HapMap)
T=0.152 (46/302, FINRISK)
T=0.319 (69/216, Qatari)
G=0.427 (64/150, SGDP_PRJ)
G=0.50 (6/12, Siberian)
T=0.50 (6/12, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: PTH : Stop Gained
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: 20231103111315

Population	Group	Sample Size	Ref Allele	Alt Allele	Ref HMOZ	Alt HMOZ	HTRZ	HWEP
Total	Global	55536	G=0.87477	A=0.00000, T=0.12523	0.770275	0.020743	0.208982	31
European	Sub	38422	G=0.86289	A=0.00000, T=0.13711	0.748373	0.022591	0.229035	11
African	Sub	5056	G=0.9598	A=0.0000, T=0.0402	0.924051	0.004351	0.071598	7
African Others	Sub	178	G=1.000	A=0.000, T=0.000	1.0	0.0	0.0	N/A
African American	Sub	4878	G=0.9584	A=0.0000, T=0.0416	0.921279	0.00451	0.074211	7
Asian	Sub	202	G=0.921	A=0.000, T=0.079	0.851485	0.009901	0.138614	0
East Asian	Sub	144	G=0.931	A=0.000, T=0.069	0.875	0.013889	0.111111	1
Other Asian	Sub	58	G=0.90	A=0.00, T=0.10	0.793103	0.0	0.206897	0
Latin American 1	Sub	504	G=0.867	A=0.000, T=0.133	0.761905	0.027778	0.210317	1
Latin American 2	Sub	4686	G=0.9341	A=0.0000, T=0.0659	0.876227	0.008109	0.115664	5
South Asian	Sub	108	G=0.852	A=0.000, T=0.148	0.740741	0.037037	0.222222	0
Other	Sub	6558	G=0.8359	A=0.0000, T=0.1641	0.702958	0.031107	0.265935	2

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=0.878488	T=0.121512
ExAC	Global	Study-wide	121348	G=0.838943	T=0.161057
ExAC	Europe	Sub	73340	G=0.84268	T=0.15732
ExAC	Asian	Sub	25160	G=0.74734	T=0.25266
ExAC	American	Sub	11534	G=0.92839	T=0.07161
ExAC	African	Sub	10406	G=0.93696	T=0.06304
ExAC	Other	Sub	908	G=0.816	T=0.184
Allele Frequency Aggregator	Total	Global	55536	G=0.87477	A=0.00000, T=0.12523
Allele Frequency Aggregator	European	Sub	38422	G=0.86289	A=0.00000, T=0.13711
Allele Frequency Aggregator	Other	Sub	6558	G=0.8359	A=0.0000, T=0.1641
Allele Frequency Aggregator	African	Sub	5056	G=0.9598	A=0.0000, T=0.0402
Allele Frequency Aggregator	Latin American 2	Sub	4686	G=0.9341	A=0.0000, T=0.0659
Allele Frequency Aggregator	Latin American 1	Sub	504	G=0.867	A=0.000, T=0.133
Allele Frequency Aggregator	Asian	Sub	202	G=0.921	A=0.000, T=0.079
Allele Frequency Aggregator	South Asian	Sub	108	G=0.852	A=0.000, T=0.148
14KJPN	JAPANESE	Study-wide	28258	G=0.90077	T=0.09923
8.3KJPN	JAPANESE	Study-wide	16758	G=0.90285	T=0.09715
1000Genomes_30x	Global	Study-wide	6404	G=0.8506	T=0.1494
1000Genomes_30x	African	Sub	1786	G=0.9513	T=0.0487
1000Genomes_30x	Europe	Sub	1266	G=0.8270	T=0.1730
1000Genomes_30x	South Asian	Sub	1202	G=0.6656	T=0.3344
1000Genomes_30x	East Asian	Sub	1170	G=0.8795	T=0.1205
1000Genomes_30x	American	Sub	980	G=0.890	T=0.110
1000Genomes	Global	Study-wide	5008	G=0.8486	T=0.1514
1000Genomes	African	Sub	1322	G=0.9523	T=0.0477
1000Genomes	East Asian	Sub	1008	G=0.8790	T=0.1210
1000Genomes	Europe	Sub	1006	G=0.8290	T=0.1710
1000Genomes	South Asian	Sub	978	G=0.665	T=0.335
1000Genomes	American	Sub	694	G=0.895	T=0.105
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.8547	T=0.1453
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	G=0.8430	T=0.1570
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	G=0.8468	T=0.1532
KOREAN population from KRGDB	KOREAN	Study-wide	2922	G=0.8710	T=0.1290
Korean Genome Project	KOREAN	Study-wide	1832	G=0.8745	T=0.1255
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.851	T=0.149
A Vietnamese Genetic Variation Database	Global	Study-wide	610	G=0.890	T=0.110
Northern Sweden	ACPOP	Study-wide	600	G=0.872	T=0.128
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	G=0.833	T=0.167
HapMap	Global	Study-wide	328	G=0.896	T=0.104
HapMap	American	Sub	120	G=0.875	T=0.125
HapMap	African	Sub	118	G=0.949	T=0.051
HapMap	Asian	Sub	90	G=0.86	T=0.14
FINRISK	Finnish from FINRISK project	Study-wide	302	G=0.848	T=0.152
Qatari	Global	Study-wide	216	G=0.681	T=0.319
SGDP_PRJ	Global	Study-wide	150	G=0.427	T=0.573
Siberian	Global	Study-wide	12	G=0.50	T=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 11	NC_000011.10:g.13492506G>A
GRCh38.p14 chr 11	NC_000011.10:g.13492506G>T
GRCh37.p13 chr 11	NC_000011.9:g.13514053G>A
GRCh37.p13 chr 11	NC_000011.9:g.13514053G>T
PTH RefSeqGene	NG_008962.1:g.8515C>T
PTH RefSeqGene	NG_008962.1:g.8515C>A

Gene: PTH, parathyroid hormone (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PTH transcript variant 1	NM_000315.4:c.247C>T	R [CGA] > * [TGA]	Coding Sequence Variant
parathyroid hormone isoform 1 preproprotein	NP_000306.1:p.Arg83Ter	R (Arg) > * (Ter)	Stop Gained
PTH transcript variant 1	NM_000315.4:c.247C>A	R [CGA] > R [AGA]	Coding Sequence Variant
parathyroid hormone isoform 1 preproprotein	NP_000306.1:p.Arg83=	R (Arg) > R (Arg)	Synonymous Variant
PTH transcript variant 2	NM_001316352.2:c.343C>T	R [CGA] > * [TGA]	Coding Sequence Variant
parathyroid hormone isoform 2	NP_001303281.1:p.Arg115Ter	R (Arg) > * (Ter)	Stop Gained
PTH transcript variant 2	NM_001316352.2:c.343C>A	R [CGA] > R [AGA]	Coding Sequence Variant
parathyroid hormone isoform 2	NP_001303281.1:p.Arg115=	R (Arg) > R (Arg)	Synonymous 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: 28798 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000014767.26	Primary hyperparathyroidism	Pathogenic
RCV002221476.2	Familial hypoparathyroidism	Likely-Pathogenic

Allele: T (allele ID: 254060 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000245073.1	not specified	Benign
RCV000334070.3	Familial hypoparathyroidism	Benign
RCV001707571.1	not provided	Benign
RCV001795388.2	Hypoparathyroidism, familial isolated 1	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	T
GRCh38.p14 chr 11	NC_000011.10:g.13492506=	NC_000011.10:g.13492506G>A	NC_000011.10:g.13492506G>T
GRCh37.p13 chr 11	NC_000011.9:g.13514053=	NC_000011.9:g.13514053G>A	NC_000011.9:g.13514053G>T
PTH RefSeqGene	NG_008962.1:g.8515=	NG_008962.1:g.8515C>T	NG_008962.1:g.8515C>A
PTH transcript variant 1	NM_000315.4:c.247=	NM_000315.4:c.247C>T	NM_000315.4:c.247C>A
PTH transcript variant 1	NM_000315.3:c.247=	NM_000315.3:c.247C>T	NM_000315.3:c.247C>A
PTH transcript	NM_000315.2:c.247=	NM_000315.2:c.247C>T	NM_000315.2:c.247C>A
PTH transcript variant 2	NM_001316352.2:c.343=	NM_001316352.2:c.343C>T	NM_001316352.2:c.343C>A
PTH transcript variant 2	NM_001316352.1:c.343=	NM_001316352.1:c.343C>T	NM_001316352.1:c.343C>A
parathyroid hormone isoform 1 preproprotein	NP_000306.1:p.Arg83=	NP_000306.1:p.Arg83Ter	NP_000306.1:p.Arg83=
parathyroid hormone isoform 2	NP_001303281.1:p.Arg115=	NP_001303281.1:p.Arg115Ter	NP_001303281.1:p.Arg115=

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#.

101 SubSNP, 25 Frequency, 6 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	WIAF-CSNP	ss7879	Sep 19, 2000 (52)
2	SNP500CANCER	ss7986271	Jul 02, 2003 (116)
3	SC_SNP	ss15489702	Feb 27, 2004 (120)
4	CSHL-HAPMAP	ss19215347	Feb 27, 2004 (120)
5	SSAHASNP	ss20833761	Apr 05, 2004 (121)
6	PERLEGEN	ss24555810	Sep 20, 2004 (123)
7	ABI	ss39931016	Mar 14, 2006 (126)
8	KRIBB_YJKIM	ss80753439	Dec 15, 2007 (130)
9	BGI	ss102941627	Dec 01, 2009 (131)
10	GMI	ss155950721	Dec 01, 2009 (131)
11	SEATTLESEQ	ss159722735	Dec 01, 2009 (131)
12	ILLUMINA	ss160769576	Dec 01, 2009 (131)
13	ENSEMBL	ss161403816	Dec 01, 2009 (131)
14	BCM-HGSC-SUB	ss207885613	Jul 04, 2010 (132)
15	1000GENOMES	ss225103361	Jul 14, 2010 (132)
16	1000GENOMES	ss235455244	Jul 15, 2010 (132)
17	1000GENOMES	ss242106852	Jul 15, 2010 (132)
18	ILLUMINA	ss244304643	Jul 04, 2010 (132)
19	OMIM-CURATED-RECORDS	ss256302361	Aug 26, 2010 (132)
20	GMI	ss280892850	May 04, 2012 (137)
21	GMI	ss286321047	Apr 25, 2013 (138)
22	NHLBI-ESP	ss342319498	May 09, 2011 (134)
23	ILLUMINA	ss479872667	May 04, 2012 (137)
24	ILLUMINA	ss482238549	Sep 08, 2015 (146)
25	ILLUMINA	ss482777939	May 04, 2012 (137)
26	1000GENOMES	ss491013470	May 04, 2012 (137)
27	CLINSEQ_SNP	ss491640479	May 04, 2012 (137)
28	ILLUMINA	ss533352697	Sep 08, 2015 (146)
29	TISHKOFF	ss562399429	Apr 25, 2013 (138)
30	SSMP	ss657799422	Apr 25, 2013 (138)
31	ILLUMINA	ss779483508	Sep 08, 2015 (146)
32	ILLUMINA	ss781089837	Sep 08, 2015 (146)
33	ILLUMINA	ss834953552	Sep 08, 2015 (146)
34	EVA-GONL	ss988230414	Aug 21, 2014 (142)
35	JMKIDD_LAB	ss1067520788	Aug 21, 2014 (142)
36	JMKIDD_LAB	ss1077517608	Aug 21, 2014 (142)
37	1000GENOMES	ss1340191905	Aug 21, 2014 (142)
38	EVA_FINRISK	ss1584073314	Apr 01, 2015 (144)
39	EVA_DECODE	ss1597907663	Apr 01, 2015 (144)
40	EVA_UK10K_ALSPAC	ss1626030953	Apr 01, 2015 (144)
41	EVA_UK10K_TWINSUK	ss1669024986	Apr 01, 2015 (144)
42	EVA_EXAC	ss1690271101	Apr 01, 2015 (144)
43	EVA_MGP	ss1711284147	Apr 01, 2015 (144)
44	WEILL_CORNELL_DGM	ss1931593208	Feb 12, 2016 (147)
45	JJLAB	ss2026540535	Sep 14, 2016 (149)
46	USC_VALOUEV	ss2154827494	Dec 20, 2016 (150)
47	HUMAN_LONGEVITY	ss2180340447	Dec 20, 2016 (150)
48	SYSTEMSBIOZJU	ss2627739816	Nov 08, 2017 (151)
49	ILLUMINA	ss2632804467	Nov 08, 2017 (151)
50	GRF	ss2699099743	Nov 08, 2017 (151)
51	GNOMAD	ss2738817603	Nov 08, 2017 (151)
52	GNOMAD	ss2748567368	Nov 08, 2017 (151)
53	GNOMAD	ss2896535393	Nov 08, 2017 (151)
54	SWEGEN	ss3007629171	Nov 08, 2017 (151)
55	BIOINF_KMB_FNS_UNIBA	ss3027065782	Nov 08, 2017 (151)
56	CSHL	ss3349463843	Nov 08, 2017 (151)
57	ILLUMINA	ss3626605569	Oct 12, 2018 (152)
58	ILLUMINA	ss3630823520	Oct 12, 2018 (152)
59	ILLUMINA	ss3636126326	Oct 12, 2018 (152)
60	ILLUMINA	ss3641011568	Oct 12, 2018 (152)
61	OMUKHERJEE_ADBS	ss3646422724	Oct 12, 2018 (152)
62	EGCUT_WGS	ss3675028007	Jul 13, 2019 (153)
63	EVA_DECODE	ss3691252661	Jul 13, 2019 (153)
64	ACPOP	ss3737938382	Jul 13, 2019 (153)
65	EVA	ss3748967066	Jul 13, 2019 (153)
66	KHV_HUMAN_GENOMES	ss3814315787	Jul 13, 2019 (153)
67	EVA	ss3824596492	Apr 26, 2020 (154)
68	EVA	ss3825793669	Apr 26, 2020 (154)
69	EVA	ss3832490075	Apr 26, 2020 (154)
70	EVA	ss3839792209	Apr 26, 2020 (154)
71	EVA	ss3845268774	Apr 26, 2020 (154)
72	SGDP_PRJ	ss3875686087	Apr 26, 2020 (154)
73	KRGDB	ss3923918138	Apr 26, 2020 (154)
74	KOGIC	ss3969243938	Apr 26, 2020 (154)
75	FSA-LAB	ss3983997356	Apr 26, 2021 (155)
76	EVA	ss3986053877	Apr 26, 2021 (155)
77	EVA	ss3986516808	Apr 26, 2021 (155)
78	TOPMED	ss4875822321	Apr 26, 2021 (155)
79	TOMMO_GENOMICS	ss5200764317	Apr 26, 2021 (155)
80	EVA	ss5236891997	Apr 26, 2021 (155)
81	EVA	ss5237656937	Oct 16, 2022 (156)
82	1000G_HIGH_COVERAGE	ss5286468153	Oct 16, 2022 (156)
83	TRAN_CS_UWATERLOO	ss5314431143	Oct 16, 2022 (156)
84	EVA	ss5315528943	Oct 16, 2022 (156)
85	EVA	ss5397858173	Oct 16, 2022 (156)
86	HUGCELL_USP	ss5481766214	Oct 16, 2022 (156)
87	EVA	ss5510258258	Oct 16, 2022 (156)
88	1000G_HIGH_COVERAGE	ss5581621863	Oct 16, 2022 (156)
89	EVA	ss5624018107	Oct 16, 2022 (156)
90	SANFORD_IMAGENETICS	ss5650675615	Oct 16, 2022 (156)
91	TOMMO_GENOMICS	ss5747541010	Oct 16, 2022 (156)
92	EVA	ss5799442672	Oct 16, 2022 (156)
93	EVA	ss5800166411	Oct 16, 2022 (156)
94	YY_MCH	ss5812145653	Oct 16, 2022 (156)
95	EVA	ss5836290064	Oct 16, 2022 (156)
96	EVA	ss5848319317	Oct 16, 2022 (156)
97	EVA	ss5849867561	Oct 16, 2022 (156)
98	EVA	ss5918905649	Oct 16, 2022 (156)
99	EVA	ss5936547723	Oct 16, 2022 (156)
100	EVA	ss5941982719	Oct 16, 2022 (156)
101	EVA	ss5981266001	Oct 16, 2022 (156)
102	1000Genomes	NC_000011.9 - 13514053	Oct 12, 2018 (152)
103	1000Genomes_30x	NC_000011.10 - 13492506	Oct 16, 2022 (156)
104	The Avon Longitudinal Study of Parents and Children	NC_000011.9 - 13514053	Oct 12, 2018 (152)
105	Genetic variation in the Estonian population	NC_000011.9 - 13514053	Oct 12, 2018 (152)
106	ExAC	NC_000011.9 - 13514053	Oct 12, 2018 (152)
107	FINRISK	NC_000011.9 - 13514053	Apr 26, 2020 (154)
108	gnomAD - Genomes Submission ignored due to conflicting rows: Row 371870267 (NC_000011.10:13492505:G:A 1/139516) Row 371870268 (NC_000011.10:13492505:G:T 17126/139476)	-	Apr 26, 2021 (155)
109	gnomAD - Genomes Submission ignored due to conflicting rows: Row 371870267 (NC_000011.10:13492505:G:A 1/139516) Row 371870268 (NC_000011.10:13492505:G:T 17126/139476)	-	Apr 26, 2021 (155)
110	gnomAD - Exomes Submission ignored due to conflicting rows: Row 8027989 (NC_000011.9:13514052:G:G 251395/251396, NC_000011.9:13514052:G:A 1/251396) Row 8027990 (NC_000011.9:13514052:G:G 211860/251396, NC_000011.9:13514052:G:T 39536/251396)	-	Jul 13, 2019 (153)
111	gnomAD - Exomes Submission ignored due to conflicting rows: Row 8027989 (NC_000011.9:13514052:G:G 251395/251396, NC_000011.9:13514052:G:A 1/251396) Row 8027990 (NC_000011.9:13514052:G:G 211860/251396, NC_000011.9:13514052:G:T 39536/251396)	-	Jul 13, 2019 (153)
112	Genome of the Netherlands Release 5	NC_000011.9 - 13514053	Apr 26, 2020 (154)
113	HapMap	NC_000011.10 - 13492506	Apr 26, 2020 (154)
114	KOREAN population from KRGDB	NC_000011.9 - 13514053	Apr 26, 2020 (154)
115	Korean Genome Project	NC_000011.10 - 13492506	Apr 26, 2020 (154)
116	Medical Genome Project healthy controls from Spanish population	NC_000011.9 - 13514053	Apr 26, 2020 (154)
117	Northern Sweden	NC_000011.9 - 13514053	Jul 13, 2019 (153)
118	Qatari	NC_000011.9 - 13514053	Apr 26, 2020 (154)
119	SGDP_PRJ	NC_000011.9 - 13514053	Apr 26, 2020 (154)
120	Siberian	NC_000011.9 - 13514053	Apr 26, 2020 (154)
121	8.3KJPN	NC_000011.9 - 13514053	Apr 26, 2021 (155)
122	14KJPN	NC_000011.10 - 13492506	Oct 16, 2022 (156)
123	TopMed	NC_000011.10 - 13492506	Apr 26, 2021 (155)
124	UK 10K study - Twins	NC_000011.9 - 13514053	Oct 12, 2018 (152)
125	A Vietnamese Genetic Variation Database	NC_000011.9 - 13514053	Jul 13, 2019 (153)
126	ALFA	NC_000011.10 - 13492506	Apr 26, 2021 (155)
127	ClinVar	RCV000014767.26	Apr 26, 2021 (155)
128	ClinVar	RCV000245073.1	Oct 12, 2018 (152)
129	ClinVar	RCV000334070.3	Oct 16, 2022 (156)
130	ClinVar	RCV001707571.1	Oct 16, 2022 (156)
131	ClinVar	RCV001795388.2	Oct 16, 2022 (156)
132	ClinVar	RCV002221476.2	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)
rs17526146	Oct 08, 2004 (123)
rs58961391	May 25, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss2738817603	NC_000011.9:13514052:G:A	NC_000011.10:13492505:G:A	(self)
RCV000014767.26, RCV002221476.2, 5253851005, ss256302361	NC_000011.10:13492505:G:A	NC_000011.10:13492505:G:A	(self)
ss207885613, ss280892850, ss286321047, ss482777939, ss491640479, ss1597907663	NC_000011.8:13470628:G:T	NC_000011.10:13492505:G:T	(self)
52677428, 29261614, 20766255, 519800, 69775, 13048863, 31095532, 399907, 11223247, 13635138, 27703067, 7343848, 58733624, 29261614, 6496458, ss225103361, ss235455244, ss242106852, ss342319498, ss479872667, ss482238549, ss491013470, ss533352697, ss562399429, ss657799422, ss779483508, ss781089837, ss834953552, ss988230414, ss1067520788, ss1077517608, ss1340191905, ss1584073314, ss1626030953, ss1669024986, ss1690271101, ss1711284147, ss1931593208, ss2026540535, ss2154827494, ss2627739816, ss2632804467, ss2699099743, ss2738817603, ss2748567368, ss2896535393, ss3007629171, ss3349463843, ss3626605569, ss3630823520, ss3636126326, ss3641011568, ss3646422724, ss3675028007, ss3737938382, ss3748967066, ss3824596492, ss3825793669, ss3832490075, ss3839792209, ss3875686087, ss3923918138, ss3983997356, ss3986053877, ss3986516808, ss5200764317, ss5315528943, ss5397858173, ss5510258258, ss5624018107, ss5650675615, ss5799442672, ss5800166411, ss5836290064, ss5848319317, ss5936547723, ss5941982719, ss5981266001	NC_000011.9:13514052:G:T	NC_000011.10:13492505:G:T	(self)
RCV000245073.1, RCV000334070.3, RCV001707571.1, RCV001795388.2, 69147798, 554007, 25621939, 81378114, 91367977, 5253851005, ss2180340447, ss3027065782, ss3691252661, ss3814315787, ss3845268774, ss3969243938, ss4875822321, ss5236891997, ss5237656937, ss5286468153, ss5314431143, ss5481766214, ss5581621863, ss5747541010, ss5812145653, ss5849867561, ss5918905649	NC_000011.10:13492505:G:T	NC_000011.10:13492505:G:T	(self)
ss15489702, ss19215347, ss20833761	NT_009237.16:12277992:G:T	NC_000011.10:13492505:G:T	(self)
ss7879, ss7986271, ss24555810, ss39931016, ss80753439, ss102941627, ss155950721, ss159722735, ss160769576, ss161403816, ss244304643	NT_009237.18:13454052:G:T	NC_000011.10:13492505:G:T	(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 rs6256

PMID	Title	Author	Year	Journal
1425431	The carboxy-terminus of parathyroid hormone is essential for hormone processing and secretion.	Lim SK et al.	1992	Endocrinology
18551993	SNP combinations in chromosome-wide genes are associated with bone mineral density in Taiwanese women.	Lin GT et al.	2008	The Chinese journal of physiology
18784115	PTH mutation with primary hyperparathyroidism and undetectable intact PTH.	Au AY et al.	2008	The New England journal of medicine
21082232	Influence of gene variants related to calcium homeostasis on biochemical parameters of women with polycystic ovary syndrome.	Ranjzad F et al.	2011	Journal of assisted reproduction and genetics
21637951	A common variant in the adiponectin gene and polycystic ovary syndrome risk.	Ranjzad F et al.	2012	Molecular biology reports
22022476	Common genetic variants are associated with accelerated bone mineral density loss after hematopoietic cell transplantation.	Yao S et al.	2011	PloS one
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
26929638	Genetic polymorphisms of CASR and cancer risk: evidence from meta-analysis and HuGE review.	Jeong S et al.	2016	OncoTargets and therapy
28935272	Genome-wide association study evaluating single-nucleotide polymorphisms and outcomes in patients with advanced stage serous ovarian or primary peritoneal cancer: An NRG Oncology/Gynecologic Oncology Group study.	Moore KN et al.	2017	Gynecologic oncology
29969593	Polymorphisms of PTH (Parathyroid Hormone) Gene and Risk of Kidney Stone Disease: A Case-Control Study from West Bengal, India.	Mitra P et al.	2018	Urology
34063310	Parathyroid Hormone Gene and Genes Involved in the Maintenance of Vitamin D Levels Association with Mandibular Retrognathism.	Küchler EC et al.	2021	Journal of personalized medicine

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

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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).
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs6256