Name: rs6169
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.

rs6169

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr11:30233638 (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: C>A / C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.454243 (130543/287386, ALFA)
C=0.453599 (120063/264690, TOPMED)
C=0.488324 (122462/250780, GnomAD_exome) (+ 24 more)
C=0.462565 (64736/139950, GnomAD)
C=0.485797 (58865/121172, ExAC)
C=0.37540 (29543/78698, PAGE_STUDY)
C=0.28233 (7978/28258, 14KJPN)
C=0.28124 (4713/16758, 8.3KJPN)
C=0.47154 (6131/13002, GO-ESP)
C=0.3852 (2467/6404, 1000G_30x)
C=0.3852 (1929/5008, 1000G)
T=0.4489 (2011/4480, Estonian)
T=0.4224 (1628/3854, ALSPAC)
T=0.4210 (1561/3708, TWINSUK)
C=0.3082 (903/2930, KOREAN)
C=0.3805 (720/1892, HapMap)
C=0.3068 (562/1832, Korea1K)
T=0.417 (416/998, GoNL)
C=0.334 (263/788, PRJEB37584)
C=0.370 (228/616, Vietnamese)
T=0.423 (254/600, NorthernSweden)
T=0.406 (217/534, MGP)
C=0.295 (130/440, SGDP_PRJ)
C=0.497 (151/304, FINRISK)
C=0.463 (100/216, Qatari)
C=0.47 (19/40, GENOME_DK)
C=0.15 (6/40, Siberian)

Clinical Significance: Reported in ClinVar
Gene : Consequence: FSHB : Stop Gained
ARL14EP-DT : Intron Variant
Publications: 6 citations
Genomic View: See rs on genome

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

Release Version: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	308498	C=0.541446	T=0.458554
European	Sub	260718	C=0.563402	T=0.436598
African	Sub	15244	C=0.29900	T=0.70100
African Others	Sub	554	C=0.226	T=0.774
African American	Sub	14690	C=0.30177	T=0.69823
Asian	Sub	3970	C=0.3406	T=0.6594
East Asian	Sub	3176	C=0.3218	T=0.6782
Other Asian	Sub	794	C=0.416	T=0.584
Latin American 1	Sub	1538	C=0.4694	T=0.5306
Latin American 2	Sub	8804	C=0.4699	T=0.5301
South Asian	Sub	378	C=0.474	T=0.526
Other	Sub	17846	C=0.51541	T=0.48459

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	287386	C=0.545757	T=0.454243
Allele Frequency Aggregator	European	Sub	247796	C=0.563125	T=0.436875
Allele Frequency Aggregator	Other	Sub	15626	C=0.51952	T=0.48048
Allele Frequency Aggregator	African	Sub	9274	C=0.3014	T=0.6986
Allele Frequency Aggregator	Latin American 2	Sub	8804	C=0.4699	T=0.5301
Allele Frequency Aggregator	Asian	Sub	3970	C=0.3406	T=0.6594
Allele Frequency Aggregator	Latin American 1	Sub	1538	C=0.4694	T=0.5306
Allele Frequency Aggregator	South Asian	Sub	378	C=0.474	T=0.526
TopMed	Global	Study-wide	264690	C=0.453599	T=0.546401
gnomAD - Exomes	Global	Study-wide	250780	C=0.488324	T=0.511676
gnomAD - Exomes	European	Sub	134892	C=0.551730	T=0.448270
gnomAD - Exomes	Asian	Sub	48952	C=0.39157	T=0.60843
gnomAD - Exomes	American	Sub	34516	C=0.45559	T=0.54441
gnomAD - Exomes	African	Sub	16248	C=0.28816	T=0.71184
gnomAD - Exomes	Ashkenazi Jewish	Sub	10060	C=0.52455	T=0.47545
gnomAD - Exomes	Other	Sub	6112	C=0.5213	T=0.4787
gnomAD - Genomes	Global	Study-wide	139950	C=0.462565	T=0.537435
gnomAD - Genomes	European	Sub	75802	C=0.55776	T=0.44224
gnomAD - Genomes	African	Sub	41926	C=0.29395	T=0.70605
gnomAD - Genomes	American	Sub	13626	C=0.46125	T=0.53875
gnomAD - Genomes	Ashkenazi Jewish	Sub	3324	C=0.5346	T=0.4654
gnomAD - Genomes	East Asian	Sub	3124	C=0.3342	T=0.6658
gnomAD - Genomes	Other	Sub	2148	C=0.4781	T=0.5219
ExAC	Global	Study-wide	121172	C=0.485797	T=0.514203
ExAC	Europe	Sub	73272	C=0.55047	T=0.44953
ExAC	Asian	Sub	25100	C=0.39127	T=0.60873
ExAC	American	Sub	11496	C=0.45633	T=0.54367
ExAC	African	Sub	10398	C=0.28602	T=0.71398
ExAC	Other	Sub	906	C=0.541	T=0.459
The PAGE Study	Global	Study-wide	78698	C=0.37540	T=0.62460
The PAGE Study	AfricanAmerican	Sub	32516	C=0.30530	T=0.69470
The PAGE Study	Mexican	Sub	10808	C=0.46077	T=0.53923
The PAGE Study	Asian	Sub	8318	C=0.2830	T=0.7170
The PAGE Study	PuertoRican	Sub	7916	C=0.4664	T=0.5336
The PAGE Study	NativeHawaiian	Sub	4534	C=0.4830	T=0.5170
The PAGE Study	Cuban	Sub	4230	C=0.4922	T=0.5078
The PAGE Study	Dominican	Sub	3828	C=0.3869	T=0.6131
The PAGE Study	CentralAmerican	Sub	2450	C=0.4204	T=0.5796
The PAGE Study	SouthAmerican	Sub	1982	C=0.4460	T=0.5540
The PAGE Study	NativeAmerican	Sub	1260	C=0.4540	T=0.5460
The PAGE Study	SouthAsian	Sub	856	C=0.410	T=0.590
14KJPN	JAPANESE	Study-wide	28258	C=0.28233	T=0.71767
8.3KJPN	JAPANESE	Study-wide	16758	C=0.28124	T=0.71876
GO Exome Sequencing Project	Global	Study-wide	13002	C=0.47154	T=0.52846
GO Exome Sequencing Project	European American	Sub	8598	C=0.5642	T=0.4358
GO Exome Sequencing Project	African American	Sub	4404	C=0.2906	T=0.7094
1000Genomes_30x	Global	Study-wide	6404	C=0.3852	T=0.6148
1000Genomes_30x	African	Sub	1786	C=0.2346	T=0.7654
1000Genomes_30x	Europe	Sub	1266	C=0.5561	T=0.4439
1000Genomes_30x	South Asian	Sub	1202	C=0.4101	T=0.5899
1000Genomes_30x	East Asian	Sub	1170	C=0.3308	T=0.6692
1000Genomes_30x	American	Sub	980	C=0.473	T=0.527
1000Genomes	Global	Study-wide	5008	C=0.3852	T=0.6148
1000Genomes	African	Sub	1322	C=0.2428	T=0.7572
1000Genomes	East Asian	Sub	1008	C=0.3304	T=0.6696
1000Genomes	Europe	Sub	1006	C=0.5497	T=0.4503
1000Genomes	South Asian	Sub	978	C=0.406	T=0.594
1000Genomes	American	Sub	694	C=0.468	T=0.532
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.5511	T=0.4489
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.5776	T=0.4224
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.5790	T=0.4210
KOREAN population from KRGDB	KOREAN	Study-wide	2930	C=0.3082	T=0.6918
HapMap	Global	Study-wide	1892	C=0.3805	T=0.6195
HapMap	American	Sub	770	C=0.448	T=0.552
HapMap	African	Sub	692	C=0.292	T=0.708
HapMap	Asian	Sub	254	C=0.311	T=0.689
HapMap	Europe	Sub	176	C=0.534	T=0.466
Korean Genome Project	KOREAN	Study-wide	1832	C=0.3068	T=0.6932
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.583	T=0.417
CNV burdens in cranial meningiomas	Global	Study-wide	788	C=0.334	T=0.666
CNV burdens in cranial meningiomas	CRM	Sub	788	C=0.334	T=0.666
A Vietnamese Genetic Variation Database	Global	Study-wide	616	C=0.370	T=0.630
Northern Sweden	ACPOP	Study-wide	600	C=0.577	T=0.423
Medical Genome Project healthy controls from Spanish population	Spanish controls	Study-wide	534	C=0.594	T=0.406
SGDP_PRJ	Global	Study-wide	440	C=0.295	T=0.705
FINRISK	Finnish from FINRISK project	Study-wide	304	C=0.497	T=0.503
Qatari	Global	Study-wide	216	C=0.463	T=0.537
The Danish reference pan genome	Danish	Study-wide	40	C=0.47	T=0.53
Siberian	Global	Study-wide	40	C=0.15	T=0.85

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.30233638C>A
GRCh38.p14 chr 11	NC_000011.10:g.30233638C>T
GRCh37.p13 chr 11	NC_000011.9:g.30255185C>A
GRCh37.p13 chr 11	NC_000011.9:g.30255185C>T
FSHB RefSeqGene	NG_008144.1:g.7623C>A
FSHB RefSeqGene	NG_008144.1:g.7623C>T

Gene: FSHB, follicle stimulating hormone subunit beta (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
FSHB transcript variant 1	NM_000510.4:c.228C>A	Y [TAC] > * [TAA]	Coding Sequence Variant
follitropin subunit beta precursor	NP_000501.1:p.Tyr76Ter	Y (Tyr) > * (Ter)	Stop Gained
FSHB transcript variant 1	NM_000510.4:c.228C>T	Y [TAC] > Y [TAT]	Coding Sequence Variant
follitropin subunit beta precursor	NP_000501.1:p.Tyr76=	Y (Tyr) > Y (Tyr)	Synonymous Variant
FSHB transcript variant 2	NM_001018080.3:c.228C>A	Y [TAC] > * [TAA]	Coding Sequence Variant
follitropin subunit beta precursor	NP_001018090.1:p.Tyr76Ter	Y (Tyr) > * (Ter)	Stop Gained
FSHB transcript variant 2	NM_001018080.3:c.228C>T	Y [TAC] > Y [TAT]	Coding Sequence Variant
follitropin subunit beta precursor	NP_001018090.1:p.Tyr76=	Y (Tyr) > Y (Tyr)	Synonymous Variant
FSHB transcript variant 3	NM_001382289.1:c.228C>A	Y [TAC] > * [TAA]	Coding Sequence Variant
follitropin subunit beta precursor	NP_001369218.1:p.Tyr76Ter	Y (Tyr) > * (Ter)	Stop Gained
FSHB transcript variant 3	NM_001382289.1:c.228C>T	Y [TAC] > Y [TAT]	Coding Sequence Variant
follitropin subunit beta precursor	NP_001369218.1:p.Tyr76=	Y (Tyr) > Y (Tyr)	Synonymous Variant

Gene: ARL14EP-DT, uncharacterized ARL14EP-DT (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ARL14EP-DT transcript variant X2	XR_007062639.1:n.	N/A	Intron Variant
ARL14EP-DT transcript variant X1	XR_931152.3: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.

Allele: T (allele ID: 254134 )

ClinVar Accession	Disease Names	Clinical Significance
RCV000249738.1	not specified	Benign
RCV000324366.5	Hypogonadotropic hypogonadism 24 without anosmia	Benign
RCV001689809.4	not provided	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	C=	A	T
GRCh38.p14 chr 11	NC_000011.10:g.30233638=	NC_000011.10:g.30233638C>A	NC_000011.10:g.30233638C>T
GRCh37.p13 chr 11	NC_000011.9:g.30255185=	NC_000011.9:g.30255185C>A	NC_000011.9:g.30255185C>T
FSHB RefSeqGene	NG_008144.1:g.7623=	NG_008144.1:g.7623C>A	NG_008144.1:g.7623C>T
FSHB transcript variant 1	NM_000510.4:c.228=	NM_000510.4:c.228C>A	NM_000510.4:c.228C>T
FSHB transcript variant 1	NM_000510.3:c.228=	NM_000510.3:c.228C>A	NM_000510.3:c.228C>T
FSHB transcript variant 1	NM_000510.2:c.228=	NM_000510.2:c.228C>A	NM_000510.2:c.228C>T
FSHB transcript variant 2	NM_001018080.3:c.228=	NM_001018080.3:c.228C>A	NM_001018080.3:c.228C>T
FSHB transcript variant 2	NM_001018080.2:c.228=	NM_001018080.2:c.228C>A	NM_001018080.2:c.228C>T
FSHB transcript variant 2	NM_001018080.1:c.228=	NM_001018080.1:c.228C>A	NM_001018080.1:c.228C>T
FSHB transcript variant 3	NM_001382289.1:c.228=	NM_001382289.1:c.228C>A	NM_001382289.1:c.228C>T
follitropin subunit beta precursor	NP_000501.1:p.Tyr76=	NP_000501.1:p.Tyr76Ter	NP_000501.1:p.Tyr76=
follitropin subunit beta precursor	NP_001018090.1:p.Tyr76=	NP_001018090.1:p.Tyr76Ter	NP_001018090.1:p.Tyr76=
follitropin subunit beta precursor	NP_001369218.1:p.Tyr76=	NP_001369218.1:p.Tyr76Ter	NP_001369218.1:p.Tyr76=

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#.

160 SubSNP, 27 Frequency, 3 ClinVar submissions

No	Submitter	Submission ID	Date (Build)
1	WIAF-CSNP	ss7790	Sep 19, 2000 (52)
2	SC_JCM	ss670550	Aug 11, 2000 (85)
3	YUSUKE	ss3242586	Sep 28, 2001 (100)
4	BCM_SSAHASNP	ss10690152	Jul 11, 2003 (116)
5	WI_SSAHASNP	ss12160062	Jul 11, 2003 (116)
6	SC_SNP	ss15978082	Feb 27, 2004 (120)
7	PERLEGEN	ss24481871	Sep 20, 2004 (123)
8	APPLERA_GI	ss48424264	Mar 13, 2006 (126)
9	MLAAN	ss49785058	Mar 13, 2006 (126)
10	ILLUMINA	ss75152306	Dec 07, 2007 (129)
11	AFFY	ss76526471	Dec 08, 2007 (130)
12	HGSV	ss81287772	Dec 15, 2007 (130)
13	BCMHGSC_JDW	ss88524536	Mar 23, 2008 (129)
14	BGI	ss102953188	Dec 01, 2009 (131)
15	SNP500CANCER	ss105434876	Feb 05, 2009 (130)
16	1000GENOMES	ss110268795	Jan 24, 2009 (130)
17	1000GENOMES	ss114413522	Jan 25, 2009 (130)
18	KRIBB_YJKIM	ss119337789	Dec 01, 2009 (131)
19	ILLUMINA-UK	ss119772162	Dec 01, 2009 (131)
20	ENSEMBL	ss132400352	Dec 01, 2009 (131)
21	GMI	ss156114686	Dec 01, 2009 (131)
22	SEATTLESEQ	ss159722970	Dec 01, 2009 (131)
23	ILLUMINA	ss160768672	Dec 01, 2009 (131)
24	COMPLETE_GENOMICS	ss169522525	Jul 04, 2010 (132)
25	COMPLETE_GENOMICS	ss170742633	Jul 04, 2010 (132)
26	ILLUMINA	ss173989340	Jul 04, 2010 (132)
27	BUSHMAN	ss202549031	Jul 04, 2010 (132)
28	BCM-HGSC-SUB	ss207709828	Jul 04, 2010 (132)
29	1000GENOMES	ss225171416	Jul 14, 2010 (132)
30	1000GENOMES	ss235505274	Jul 15, 2010 (132)
31	1000GENOMES	ss242148638	Jul 15, 2010 (132)
32	ILLUMINA	ss244304573	Jul 04, 2010 (132)
33	BL	ss255015097	May 09, 2011 (134)
34	GMI	ss280944645	May 04, 2012 (137)
35	PJP	ss291211842	May 09, 2011 (134)
36	NHLBI-ESP	ss342321506	May 09, 2011 (134)
37	ILLUMINA	ss481225767	May 04, 2012 (137)
38	ILLUMINA	ss481249262	May 04, 2012 (137)
39	ILLUMINA	ss482235783	Sep 08, 2015 (146)
40	ILLUMINA	ss485408179	May 04, 2012 (137)
41	1000GENOMES	ss491015102	May 04, 2012 (137)
42	CLINSEQ_SNP	ss491641846	May 04, 2012 (137)
43	ILLUMINA	ss537343045	Sep 08, 2015 (146)
44	TISHKOFF	ss562476757	Apr 25, 2013 (138)
45	SSMP	ss657968207	Apr 25, 2013 (138)
46	ILLUMINA	ss778938098	Aug 21, 2014 (142)
47	ILLUMINA	ss783149564	Sep 08, 2015 (146)
48	ILLUMINA	ss784105569	Aug 21, 2014 (142)
49	ILLUMINA	ss832408746	Sep 08, 2015 (146)
50	ILLUMINA	ss834399772	Aug 21, 2014 (142)
51	JMKIDD_LAB	ss974478484	Aug 21, 2014 (142)
52	EVA-GONL	ss988364113	Aug 21, 2014 (142)
53	JMKIDD_LAB	ss1067521534	Aug 21, 2014 (142)
54	JMKIDD_LAB	ss1077618365	Aug 21, 2014 (142)
55	1000GENOMES	ss1340679411	Aug 21, 2014 (142)
56	DDI	ss1426587925	Apr 01, 2015 (144)
57	EVA_GENOME_DK	ss1575622579	Apr 01, 2015 (144)
58	EVA_FINRISK	ss1584073836	Apr 01, 2015 (144)
59	EVA_DECODE	ss1598040422	Apr 01, 2015 (144)
60	EVA_UK10K_ALSPAC	ss1626287229	Apr 01, 2015 (144)
61	EVA_UK10K_TWINSUK	ss1669281262	Apr 01, 2015 (144)
62	EVA_EXAC	ss1690306254	Apr 01, 2015 (144)
63	EVA_MGP	ss1711287060	Apr 01, 2015 (144)
64	EVA_SVP	ss1713245288	Apr 01, 2015 (144)
65	ILLUMINA	ss1752012668	Sep 08, 2015 (146)
66	HAMMER_LAB	ss1806758566	Sep 08, 2015 (146)
67	WEILL_CORNELL_DGM	ss1931724620	Feb 12, 2016 (147)
68	ILLUMINA	ss1946306254	Feb 12, 2016 (147)
69	ILLUMINA	ss1959337320	Feb 12, 2016 (147)
70	GENOMED	ss1967331972	Jul 19, 2016 (147)
71	JJLAB	ss2026609563	Sep 14, 2016 (149)
72	USC_VALOUEV	ss2154898243	Dec 20, 2016 (150)
73	HUMAN_LONGEVITY	ss2181338391	Dec 20, 2016 (150)
74	SYSTEMSBIOZJU	ss2627778284	Nov 08, 2017 (151)
75	ILLUMINA	ss2632819628	Nov 08, 2017 (151)
76	GRF	ss2699177379	Nov 08, 2017 (151)
77	ILLUMINA	ss2710732473	Nov 08, 2017 (151)
78	GNOMAD	ss2738873418	Nov 08, 2017 (151)
79	GNOMAD	ss2748583966	Nov 08, 2017 (151)
80	GNOMAD	ss2897907856	Nov 08, 2017 (151)
81	SWEGEN	ss3007828427	Nov 08, 2017 (151)
82	ILLUMINA	ss3021322064	Nov 08, 2017 (151)
83	EVA_SAMSUNG_MC	ss3023066532	Nov 08, 2017 (151)
84	BIOINF_KMB_FNS_UNIBA	ss3027103191	Nov 08, 2017 (151)
85	CSHL	ss3349524523	Nov 08, 2017 (151)
86	ILLUMINA	ss3625598728	Oct 12, 2018 (152)
87	ILLUMINA	ss3626631155	Oct 12, 2018 (152)
88	ILLUMINA	ss3630837820	Oct 12, 2018 (152)
89	ILLUMINA	ss3632981249	Oct 12, 2018 (152)
90	ILLUMINA	ss3633680186	Oct 12, 2018 (152)
91	ILLUMINA	ss3634447768	Oct 12, 2018 (152)
92	ILLUMINA	ss3635371953	Oct 12, 2018 (152)
93	ILLUMINA	ss3636132379	Oct 12, 2018 (152)
94	ILLUMINA	ss3637122781	Oct 12, 2018 (152)
95	ILLUMINA	ss3637899240	Oct 12, 2018 (152)
96	ILLUMINA	ss3640155107	Oct 12, 2018 (152)
97	ILLUMINA	ss3642898329	Oct 12, 2018 (152)
98	ILLUMINA	ss3644559059	Oct 12, 2018 (152)
99	OMUKHERJEE_ADBS	ss3646423921	Oct 12, 2018 (152)
100	ILLUMINA	ss3651685012	Oct 12, 2018 (152)
101	EGCUT_WGS	ss3675232249	Jul 13, 2019 (153)
102	EVA_DECODE	ss3691493361	Jul 13, 2019 (153)
103	ILLUMINA	ss3725229008	Jul 13, 2019 (153)
104	ACPOP	ss3738050746	Jul 13, 2019 (153)
105	ILLUMINA	ss3744083032	Jul 13, 2019 (153)
106	ILLUMINA	ss3744748664	Jul 13, 2019 (153)
107	EVA	ss3749117182	Jul 13, 2019 (153)
108	PAGE_CC	ss3771615574	Jul 13, 2019 (153)
109	ILLUMINA	ss3772248700	Jul 13, 2019 (153)
110	PACBIO	ss3786912408	Jul 13, 2019 (153)
111	PACBIO	ss3792060513	Jul 13, 2019 (153)
112	PACBIO	ss3796942636	Jul 13, 2019 (153)
113	KHV_HUMAN_GENOMES	ss3814467688	Jul 13, 2019 (153)
114	EVA	ss3824603544	Apr 26, 2020 (154)
115	EVA	ss3825527380	Apr 26, 2020 (154)
116	EVA	ss3825542819	Apr 26, 2020 (154)
117	EVA	ss3825795390	Apr 26, 2020 (154)
118	EVA	ss3832556173	Apr 26, 2020 (154)
119	EVA	ss3839829683	Apr 26, 2020 (154)
120	EVA	ss3845307169	Apr 26, 2020 (154)
121	SGDP_PRJ	ss3875945634	Apr 26, 2020 (154)
122	KRGDB	ss3924194989	Apr 26, 2020 (154)
123	KOGIC	ss3969477852	Apr 26, 2020 (154)
124	FSA-LAB	ss3983999203	Apr 26, 2021 (155)
125	EVA	ss3984648552	Apr 26, 2021 (155)
126	EVA	ss3986054228	Apr 26, 2021 (155)
127	EVA	ss3986519916	Apr 26, 2021 (155)
128	EVA	ss4017531079	Apr 26, 2021 (155)
129	TOPMED	ss4880080837	Apr 26, 2021 (155)
130	TOMMO_GENOMICS	ss5201308238	Apr 26, 2021 (155)
131	EVA	ss5236892741	Apr 26, 2021 (155)
132	EVA	ss5237213654	Apr 26, 2021 (155)
133	EVA	ss5237657153	Oct 16, 2022 (156)
134	1000G_HIGH_COVERAGE	ss5286891698	Oct 16, 2022 (156)
135	TRAN_CS_UWATERLOO	ss5314431531	Oct 16, 2022 (156)
136	EVA	ss5315538037	Oct 16, 2022 (156)
137	EVA	ss5398633617	Oct 16, 2022 (156)
138	HUGCELL_USP	ss5482142269	Oct 16, 2022 (156)
139	EVA	ss5510306447	Oct 16, 2022 (156)
140	1000G_HIGH_COVERAGE	ss5582274663	Oct 16, 2022 (156)
141	EVA	ss5623952862	Oct 16, 2022 (156)
142	EVA	ss5624019016	Oct 16, 2022 (156)
143	SANFORD_IMAGENETICS	ss5624271504	Oct 16, 2022 (156)
144	SANFORD_IMAGENETICS	ss5650922885	Oct 16, 2022 (156)
145	TOMMO_GENOMICS	ss5748237606	Oct 16, 2022 (156)
146	EVA	ss5799443003	Oct 16, 2022 (156)
147	EVA	ss5799839300	Oct 16, 2022 (156)
148	EVA	ss5800167180	Oct 16, 2022 (156)
149	YY_MCH	ss5812255466	Oct 16, 2022 (156)
150	EVA	ss5836457518	Oct 16, 2022 (156)
151	EVA	ss5847388954	Oct 16, 2022 (156)
152	EVA	ss5847627549	Oct 16, 2022 (156)
153	EVA	ss5848321403	Oct 16, 2022 (156)
154	EVA	ss5849923280	Oct 16, 2022 (156)
155	EVA	ss5919392338	Oct 16, 2022 (156)
156	EVA	ss5936548089	Oct 16, 2022 (156)
157	EVA	ss5942233894	Oct 16, 2022 (156)
158	EVA	ss5979354347	Oct 16, 2022 (156)
159	EVA	ss5980668826	Oct 16, 2022 (156)
160	EVA	ss5981266678	Oct 16, 2022 (156)
161	1000Genomes	NC_000011.9 - 30255185	Oct 12, 2018 (152)
162	1000Genomes_30x	NC_000011.10 - 30233638	Oct 16, 2022 (156)
163	The Avon Longitudinal Study of Parents and Children	NC_000011.9 - 30255185	Oct 12, 2018 (152)
164	Genetic variation in the Estonian population	NC_000011.9 - 30255185	Oct 12, 2018 (152)
165	ExAC	NC_000011.9 - 30255185	Oct 12, 2018 (152)
166	FINRISK	NC_000011.9 - 30255185	Apr 26, 2020 (154)
167	The Danish reference pan genome	NC_000011.9 - 30255185	Apr 26, 2020 (154)
168	gnomAD - Genomes	NC_000011.10 - 30233638	Apr 26, 2021 (155)
169	gnomAD - Exomes	NC_000011.9 - 30255185	Jul 13, 2019 (153)
170	GO Exome Sequencing Project	NC_000011.9 - 30255185	Oct 12, 2018 (152)
171	Genome of the Netherlands Release 5	NC_000011.9 - 30255185	Apr 26, 2020 (154)
172	HapMap	NC_000011.10 - 30233638	Apr 26, 2020 (154)
173	KOREAN population from KRGDB	NC_000011.9 - 30255185	Apr 26, 2020 (154)
174	Korean Genome Project	NC_000011.10 - 30233638	Apr 26, 2020 (154)
175	Medical Genome Project healthy controls from Spanish population	NC_000011.9 - 30255185	Apr 26, 2020 (154)
176	Northern Sweden	NC_000011.9 - 30255185	Jul 13, 2019 (153)
177	The PAGE Study	NC_000011.10 - 30233638	Jul 13, 2019 (153)
178	CNV burdens in cranial meningiomas	NC_000011.9 - 30255185	Apr 26, 2021 (155)
179	Qatari	NC_000011.9 - 30255185	Apr 26, 2020 (154)
180	SGDP_PRJ	NC_000011.9 - 30255185	Apr 26, 2020 (154)
181	Siberian	NC_000011.9 - 30255185	Apr 26, 2020 (154)
182	8.3KJPN	NC_000011.9 - 30255185	Apr 26, 2021 (155)
183	14KJPN	NC_000011.10 - 30233638	Oct 16, 2022 (156)
184	TopMed	NC_000011.10 - 30233638	Apr 26, 2021 (155)
185	UK 10K study - Twins	NC_000011.9 - 30255185	Oct 12, 2018 (152)
186	A Vietnamese Genetic Variation Database	NC_000011.9 - 30255185	Jul 13, 2019 (153)
187	ALFA	NC_000011.10 - 30233638	Apr 26, 2021 (155)
188	ClinVar	RCV000249738.1	Oct 12, 2018 (152)
189	ClinVar	RCV000324366.5	Oct 16, 2022 (156)
190	ClinVar	RCV001689809.4	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)
rs500604	Sep 19, 2000 (85)
rs17624344	Oct 08, 2004 (123)
rs56629964	May 25, 2008 (130)
rs59737409	May 25, 2008 (130)
rs386601843	Aug 21, 2014 (142)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss5799443003	NC_000011.9:30255184:C:A	NC_000011.10:30233637:C:A
ss76526471, ss81287772, ss88524536, ss110268795, ss114413522, ss119772162, ss169522525, ss170742633, ss202549031, ss207709828, ss255015097, ss280944645, ss291211842, ss481225767, ss491641846, ss1598040422, ss1713245288, ss3642898329	NC_000011.8:30211760:C:T	NC_000011.10:30233637:C:T	(self)
53182881, 29543291, 20970497, 557818, 70297, 2506357, 8085382, 1061147, 13179267, 31372383, 402820, 11335611, 198027, 13766550, 27962614, 7414597, 59277545, 29543291, 6563647, ss225171416, ss235505274, ss242148638, ss342321506, ss481249262, ss482235783, ss485408179, ss491015102, ss537343045, ss562476757, ss657968207, ss778938098, ss783149564, ss784105569, ss832408746, ss834399772, ss974478484, ss988364113, ss1067521534, ss1077618365, ss1340679411, ss1426587925, ss1575622579, ss1584073836, ss1626287229, ss1669281262, ss1690306254, ss1711287060, ss1752012668, ss1806758566, ss1931724620, ss1946306254, ss1959337320, ss1967331972, ss2026609563, ss2154898243, ss2627778284, ss2632819628, ss2699177379, ss2710732473, ss2738873418, ss2748583966, ss2897907856, ss3007828427, ss3021322064, ss3023066532, ss3349524523, ss3625598728, ss3626631155, ss3630837820, ss3632981249, ss3633680186, ss3634447768, ss3635371953, ss3636132379, ss3637122781, ss3637899240, ss3640155107, ss3644559059, ss3646423921, ss3651685012, ss3675232249, ss3738050746, ss3744083032, ss3744748664, ss3749117182, ss3772248700, ss3786912408, ss3792060513, ss3796942636, ss3824603544, ss3825527380, ss3825542819, ss3825795390, ss3832556173, ss3839829683, ss3875945634, ss3924194989, ss3983999203, ss3984648552, ss3986054228, ss3986519916, ss4017531079, ss5201308238, ss5315538037, ss5398633617, ss5510306447, ss5623952862, ss5624019016, ss5624271504, ss5650922885, ss5799839300, ss5800167180, ss5836457518, ss5847388954, ss5847627549, ss5848321403, ss5936548089, ss5942233894, ss5979354347, ss5980668826, ss5981266678	NC_000011.9:30255184:C:T	NC_000011.10:30233637:C:T	(self)
RCV000249738.1, RCV000324366.5, RCV001689809.4, 69800598, 375384511, 582214, 25855853, 837043, 82074710, 95626493, 1308517921, ss2181338391, ss3027103191, ss3691493361, ss3725229008, ss3771615574, ss3814467688, ss3845307169, ss3969477852, ss4880080837, ss5236892741, ss5237213654, ss5237657153, ss5286891698, ss5314431531, ss5482142269, ss5582274663, ss5748237606, ss5812255466, ss5849923280, ss5919392338	NC_000011.10:30233637:C:T	NC_000011.10:30233637:C:T	(self)
ss10690152, ss12160062	NT_009237.15:21656288:C:T	NC_000011.10:30233637:C:T	(self)
ss15978082	NT_009237.16:29019124:C:T	NC_000011.10:30233637:C:T	(self)
ss7790, ss670550, ss3242586, ss24481871, ss48424264, ss49785058, ss75152306, ss102953188, ss105434876, ss119337789, ss132400352, ss156114686, ss159722970, ss160768672, ss173989340, ss244304573	NT_009237.18:30195184:C:T	NC_000011.10:30233637:C:T	(self)

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

6 citations for rs6169

PMID	Title	Author	Year	Journal
17227474	Haplotype structure of FSHB, the beta-subunit gene for fertility-associated follicle-stimulating hormone: possible influence of balancing selection.	Grigorova M et al.	2007	Annals of human genetics
18603647	Functional genetic polymorphisms and female reproductive disorders: Part I: Polycystic ovary syndrome and ovarian response.	Simoni M et al.	2008	Human reproduction update
20734064	A large-scale candidate gene association study of age at menarche and age at natural menopause.	He C et al.	2010	Human genetics
25741868	Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.	Richards S et al.	2015	Genetics in medicine
30596735	Identification of selected genetic polymorphisms in polycystic ovary syndrome in Sri Lankan women using low cost genotyping techniques.	Branavan U et al.	2018	PloS one
30817750	Reproducibility of pharmacogenetics findings for paclitaxel in a heterogeneous population of patients with lung cancer.	Sissung TM et al.	2019	PloS one

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

rs6169