Name: rs75244191
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.

rs75244191

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:869214-869225 (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: del(A)₈ / del(A)₅ / del(A)₄ / delA…
del(A)₈ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA
Variation Type: Indel Insertion and Deletion
Frequency: delA=0.00172 (25/14576, ALFA)
del(A)₄=0.0005 (2/4299, 1000G)
delAAA=0.0060 (23/3854, ALSPAC) (+ 1 more)
delAAA=0.0081 (30/3708, TWINSUK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: FAM41C : 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: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	14576	AAAAAAAAAAAA=0.99602	AAAAAAA=0.00000, AAAAAAAA=0.00000, AAAAAAAAA=0.00158, AAAAAAAAAA=0.00000, AAAAAAAAAAA=0.00172, AAAAAAAAAAAAA=0.00069, AAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAA=0.00000
European	Sub	11858	AAAAAAAAAAAA=0.99519	AAAAAAA=0.00000, AAAAAAAA=0.00000, AAAAAAAAA=0.00194, AAAAAAAAAA=0.00000, AAAAAAAAAAA=0.00211, AAAAAAAAAAAAA=0.00076, AAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAA=0.00000
African	Sub	1564	AAAAAAAAAAAA=1.0000	AAAAAAA=0.0000, AAAAAAAA=0.0000, AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000
African Others	Sub	52	AAAAAAAAAAAA=1.00	AAAAAAA=0.00, AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00
African American	Sub	1512	AAAAAAAAAAAA=1.0000	AAAAAAA=0.0000, AAAAAAAA=0.0000, AAAAAAAAA=0.0000, AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000
Asian	Sub	84	AAAAAAAAAAAA=1.00	AAAAAAA=0.00, AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00
East Asian	Sub	60	AAAAAAAAAAAA=1.00	AAAAAAA=0.00, AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00
Other Asian	Sub	24	AAAAAAAAAAAA=1.00	AAAAAAA=0.00, AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00
Latin American 1	Sub	112	AAAAAAAAAAAA=1.000	AAAAAAA=0.000, AAAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000
Latin American 2	Sub	500	AAAAAAAAAAAA=1.000	AAAAAAA=0.000, AAAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000
South Asian	Sub	84	AAAAAAAAAAAA=1.00	AAAAAAA=0.00, AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00
Other	Sub	374	AAAAAAAAAAAA=0.997	AAAAAAA=0.000, AAAAAAAA=0.000, AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.003, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000

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	14576	(A)₁₂=0.99602	del(A)₅=0.00000, del(A)₄=0.00000, delAAA=0.00158, delAA=0.00000, delA=0.00172, dupA=0.00069, dupAA=0.00000, dupAAA=0.00000
Allele Frequency Aggregator	European	Sub	11858	(A)₁₂=0.99519	del(A)₅=0.00000, del(A)₄=0.00000, delAAA=0.00194, delAA=0.00000, delA=0.00211, dupA=0.00076, dupAA=0.00000, dupAAA=0.00000
Allele Frequency Aggregator	African	Sub	1564	(A)₁₂=1.0000	del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	500	(A)₁₂=1.000	del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	Other	Sub	374	(A)₁₂=0.997	del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.003, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	Latin American 1	Sub	112	(A)₁₂=1.000	del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	South Asian	Sub	84	(A)₁₂=1.00	del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	Asian	Sub	84	(A)₁₂=1.00	del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
1000Genomes	Global	Study-wide	4299	(A)₁₂=0.9995	del(A)₄=0.0005
1000Genomes	Europe	Sub	983	(A)₁₂=1.000	del(A)₄=0.000
1000Genomes	African	Sub	937	(A)₁₂=1.000	del(A)₄=0.000
1000Genomes	South Asian	Sub	918	(A)₁₂=0.998	del(A)₄=0.002
1000Genomes	East Asian	Sub	832	(A)₁₂=1.000	del(A)₄=0.000
1000Genomes	American	Sub	629	(A)₁₂=1.000	del(A)₄=0.000
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	(A)₁₂=0.9940	delAAA=0.0060
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	(A)₁₂=0.9919	delAAA=0.0081

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.869218_869225del
GRCh38.p14 chr 1	NC_000001.11:g.869221_869225del
GRCh38.p14 chr 1	NC_000001.11:g.869222_869225del
GRCh38.p14 chr 1	NC_000001.11:g.869223_869225del
GRCh38.p14 chr 1	NC_000001.11:g.869224_869225del
GRCh38.p14 chr 1	NC_000001.11:g.869225del
GRCh38.p14 chr 1	NC_000001.11:g.869225dup
GRCh38.p14 chr 1	NC_000001.11:g.869224_869225dup
GRCh38.p14 chr 1	NC_000001.11:g.869223_869225dup
GRCh37.p13 chr 1	NC_000001.10:g.804598_804605del
GRCh37.p13 chr 1	NC_000001.10:g.804601_804605del
GRCh37.p13 chr 1	NC_000001.10:g.804602_804605del
GRCh37.p13 chr 1	NC_000001.10:g.804603_804605del
GRCh37.p13 chr 1	NC_000001.10:g.804604_804605del
GRCh37.p13 chr 1	NC_000001.10:g.804605del
GRCh37.p13 chr 1	NC_000001.10:g.804605dup
GRCh37.p13 chr 1	NC_000001.10:g.804604_804605dup
GRCh37.p13 chr 1	NC_000001.10:g.804603_804605dup

Gene: FAM41C, family with sequence similarity 41 member C (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
FAM41C transcript	NR_027055.1: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	(A)₁₂=	del(A)₈	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA
GRCh38.p14 chr 1	NC_000001.11:g.869214_869225=	NC_000001.11:g.869218_869225del	NC_000001.11:g.869221_869225del	NC_000001.11:g.869222_869225del	NC_000001.11:g.869223_869225del	NC_000001.11:g.869224_869225del	NC_000001.11:g.869225del	NC_000001.11:g.869225dup	NC_000001.11:g.869224_869225dup	NC_000001.11:g.869223_869225dup
GRCh37.p13 chr 1	NC_000001.10:g.804594_804605=	NC_000001.10:g.804598_804605del	NC_000001.10:g.804601_804605del	NC_000001.10:g.804602_804605del	NC_000001.10:g.804603_804605del	NC_000001.10:g.804604_804605del	NC_000001.10:g.804605del	NC_000001.10:g.804605dup	NC_000001.10:g.804604_804605dup	NC_000001.10:g.804603_804605dup

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#.

53 SubSNP, 26 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	GMI	ss154521627	Dec 01, 2009 (131)
2	BUSHMAN	ss193081901	Jul 04, 2010 (132)
3	GMI	ss287939328	May 04, 2012 (137)
4	SSMP	ss663207336	Apr 01, 2015 (144)
5	1000GENOMES	ss1367645430	Aug 21, 2014 (142)
6	1000GENOMES	ss1367645431	Aug 21, 2014 (142)
7	1000GENOMES	ss1367645432	Aug 21, 2014 (142)
8	EVA_UK10K_ALSPAC	ss1700142711	Apr 01, 2015 (144)
9	EVA_UK10K_TWINSUK	ss1700153597	Apr 01, 2015 (144)
10	SWEGEN	ss2986149574	Nov 08, 2017 (151)
11	MCHAISSO	ss3063573525	Nov 08, 2017 (151)
12	EVA_DECODE	ss3685992562	Jul 12, 2019 (153)
13	EVA_DECODE	ss3685992563	Jul 12, 2019 (153)
14	EVA_DECODE	ss3685992564	Jul 12, 2019 (153)
15	EVA_DECODE	ss3685992565	Jul 12, 2019 (153)
16	ACPOP	ss3726716561	Jul 12, 2019 (153)
17	ACPOP	ss3726716562	Jul 12, 2019 (153)
18	ACPOP	ss3726716563	Jul 12, 2019 (153)
19	PACBIO	ss3783302207	Jul 12, 2019 (153)
20	KHV_HUMAN_GENOMES	ss3798743932	Jul 12, 2019 (153)
21	GNOMAD	ss3986931521	Apr 25, 2021 (155)
22	GNOMAD	ss3986931522	Apr 25, 2021 (155)
23	GNOMAD	ss3986931523	Apr 25, 2021 (155)
24	GNOMAD	ss3986931524	Apr 25, 2021 (155)
25	GNOMAD	ss3986931525	Apr 25, 2021 (155)
26	GNOMAD	ss3986931526	Apr 25, 2021 (155)
27	GNOMAD	ss3986931527	Apr 25, 2021 (155)
28	TOPMED	ss4436441393	Apr 25, 2021 (155)
29	TOPMED	ss4436441394	Apr 25, 2021 (155)
30	TOMMO_GENOMICS	ss5142053638	Apr 25, 2021 (155)
31	TOMMO_GENOMICS	ss5142053639	Apr 25, 2021 (155)
32	TOMMO_GENOMICS	ss5142053640	Apr 25, 2021 (155)
33	TOMMO_GENOMICS	ss5142053641	Apr 25, 2021 (155)
34	TOMMO_GENOMICS	ss5142053642	Apr 25, 2021 (155)
35	1000G_HIGH_COVERAGE	ss5240864519	Oct 12, 2022 (156)
36	1000G_HIGH_COVERAGE	ss5240864520	Oct 12, 2022 (156)
37	1000G_HIGH_COVERAGE	ss5240864521	Oct 12, 2022 (156)
38	1000G_HIGH_COVERAGE	ss5240864523	Oct 12, 2022 (156)
39	HUGCELL_USP	ss5442112725	Oct 12, 2022 (156)
40	HUGCELL_USP	ss5442112726	Oct 12, 2022 (156)
41	HUGCELL_USP	ss5442112727	Oct 12, 2022 (156)
42	HUGCELL_USP	ss5442112728	Oct 12, 2022 (156)
43	HUGCELL_USP	ss5442112729	Oct 12, 2022 (156)
44	HUGCELL_USP	ss5442112730	Oct 12, 2022 (156)
45	TOMMO_GENOMICS	ss5666193357	Oct 12, 2022 (156)
46	TOMMO_GENOMICS	ss5666193358	Oct 12, 2022 (156)
47	TOMMO_GENOMICS	ss5666193359	Oct 12, 2022 (156)
48	TOMMO_GENOMICS	ss5666193361	Oct 12, 2022 (156)
49	YY_MCH	ss5800244062	Oct 12, 2022 (156)
50	EVA	ss5831418825	Oct 12, 2022 (156)
51	EVA	ss5848748922	Oct 12, 2022 (156)
52	EVA	ss5906705384	Oct 12, 2022 (156)
53	EVA	ss5936583123	Oct 12, 2022 (156)
54	1000Genomes	NC_000001.10 - 804594	Oct 11, 2018 (152)
55	The Avon Longitudinal Study of Parents and Children	NC_000001.10 - 804594	Oct 11, 2018 (152)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 72441 (NC_000001.11:869213::A 308/129068) Row 72442 (NC_000001.11:869213::AA 812/129076) Row 72443 (NC_000001.11:869213::AAA 1/129092)...	-	Apr 25, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 72441 (NC_000001.11:869213::A 308/129068) Row 72442 (NC_000001.11:869213::AA 812/129076) Row 72443 (NC_000001.11:869213::AAA 1/129092)...	-	Apr 25, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 72441 (NC_000001.11:869213::A 308/129068) Row 72442 (NC_000001.11:869213::AA 812/129076) Row 72443 (NC_000001.11:869213::AAA 1/129092)...	-	Apr 25, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 72441 (NC_000001.11:869213::A 308/129068) Row 72442 (NC_000001.11:869213::AA 812/129076) Row 72443 (NC_000001.11:869213::AAA 1/129092)...	-	Apr 25, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 72441 (NC_000001.11:869213::A 308/129068) Row 72442 (NC_000001.11:869213::AA 812/129076) Row 72443 (NC_000001.11:869213::AAA 1/129092)...	-	Apr 25, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 72441 (NC_000001.11:869213::A 308/129068) Row 72442 (NC_000001.11:869213::AA 812/129076) Row 72443 (NC_000001.11:869213::AAA 1/129092)...	-	Apr 25, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 72441 (NC_000001.11:869213::A 308/129068) Row 72442 (NC_000001.11:869213::AA 812/129076) Row 72443 (NC_000001.11:869213::AAA 1/129092)...	-	Apr 25, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 72441 (NC_000001.11:869213::A 308/129068) Row 72442 (NC_000001.11:869213::AA 812/129076) Row 72443 (NC_000001.11:869213::AAA 1/129092)...	-	Apr 25, 2021 (155)
64	Northern Sweden Submission ignored due to conflicting rows: Row 1426 (NC_000001.10:804593:AAA: 6/600) Row 1427 (NC_000001.10:804593::A 1/600) Row 1428 (NC_000001.10:804593:A: 2/600)	-	Jul 12, 2019 (153)
65	Northern Sweden Submission ignored due to conflicting rows: Row 1426 (NC_000001.10:804593:AAA: 6/600) Row 1427 (NC_000001.10:804593::A 1/600) Row 1428 (NC_000001.10:804593:A: 2/600)	-	Jul 12, 2019 (153)
66	Northern Sweden Submission ignored due to conflicting rows: Row 1426 (NC_000001.10:804593:AAA: 6/600) Row 1427 (NC_000001.10:804593::A 1/600) Row 1428 (NC_000001.10:804593:A: 2/600)	-	Jul 12, 2019 (153)
67	8.3KJPN Submission ignored due to conflicting rows: Row 22945 (NC_000001.10:804593:A: 4132/16760) Row 22946 (NC_000001.10:804593::A 33/16760) Row 22947 (NC_000001.10:804593:AA: 2/16760)...	-	Apr 25, 2021 (155)
68	8.3KJPN Submission ignored due to conflicting rows: Row 22945 (NC_000001.10:804593:A: 4132/16760) Row 22946 (NC_000001.10:804593::A 33/16760) Row 22947 (NC_000001.10:804593:AA: 2/16760)...	-	Apr 25, 2021 (155)
69	8.3KJPN Submission ignored due to conflicting rows: Row 22945 (NC_000001.10:804593:A: 4132/16760) Row 22946 (NC_000001.10:804593::A 33/16760) Row 22947 (NC_000001.10:804593:AA: 2/16760)...	-	Apr 25, 2021 (155)
70	8.3KJPN Submission ignored due to conflicting rows: Row 22945 (NC_000001.10:804593:A: 4132/16760) Row 22946 (NC_000001.10:804593::A 33/16760) Row 22947 (NC_000001.10:804593:AA: 2/16760)...	-	Apr 25, 2021 (155)
71	8.3KJPN Submission ignored due to conflicting rows: Row 22945 (NC_000001.10:804593:A: 4132/16760) Row 22946 (NC_000001.10:804593::A 33/16760) Row 22947 (NC_000001.10:804593:AA: 2/16760)...	-	Apr 25, 2021 (155)
72	14KJPN Submission ignored due to conflicting rows: Row 30461 (NC_000001.11:869213:AA: 5/28258) Row 30462 (NC_000001.11:869213:A: 6999/28258) Row 30463 (NC_000001.11:869213::A 46/28258)...	-	Oct 12, 2022 (156)
73	14KJPN Submission ignored due to conflicting rows: Row 30461 (NC_000001.11:869213:AA: 5/28258) Row 30462 (NC_000001.11:869213:A: 6999/28258) Row 30463 (NC_000001.11:869213::A 46/28258)...	-	Oct 12, 2022 (156)
74	14KJPN Submission ignored due to conflicting rows: Row 30461 (NC_000001.11:869213:AA: 5/28258) Row 30462 (NC_000001.11:869213:A: 6999/28258) Row 30463 (NC_000001.11:869213::A 46/28258)...	-	Oct 12, 2022 (156)
75	14KJPN Submission ignored due to conflicting rows: Row 30461 (NC_000001.11:869213:AA: 5/28258) Row 30462 (NC_000001.11:869213:A: 6999/28258) Row 30463 (NC_000001.11:869213::A 46/28258)...	-	Oct 12, 2022 (156)
76	TopMed Submission ignored due to conflicting rows: Row 47728 (NC_000001.11:869213:A: 25872/264690) Row 47729 (NC_000001.11:869213:AAAAA: 3/264690)	-	Apr 25, 2021 (155)
77	TopMed Submission ignored due to conflicting rows: Row 47728 (NC_000001.11:869213:A: 25872/264690) Row 47729 (NC_000001.11:869213:AAAAA: 3/264690)	-	Apr 25, 2021 (155)
78	UK 10K study - Twins	NC_000001.10 - 804594	Oct 11, 2018 (152)
79	ALFA	NC_000001.11 - 869214	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
ss3986931527	NC_000001.11:869213:AAAAAAAA:	NC_000001.11:869213:AAAAAAAAAAAA:A… NC_000001.11:869213:AAAAAAAAAAAA:AAAA	(self)
ss4436441394	NC_000001.11:869213:AAAAA:	NC_000001.11:869213:AAAAAAAAAAAA:A… NC_000001.11:869213:AAAAAAAAAAAA:AAAAAAA	(self)
12853368604	NC_000001.11:869213:AAAAAAAAAAAA:A… NC_000001.11:869213:AAAAAAAAAAAA:AAAAAAA	NC_000001.11:869213:AAAAAAAAAAAA:A… NC_000001.11:869213:AAAAAAAAAAAA:AAAAAAA	(self)
5228, ss1367645430, ss5142053641	NC_000001.10:804593:AAAA:	NC_000001.11:869213:AAAAAAAAAAAA:A… NC_000001.11:869213:AAAAAAAAAAAA:AAAAAAAA	(self)
ss3986931526, ss5442112730	NC_000001.11:869213:AAAA:	NC_000001.11:869213:AAAAAAAAAAAA:A… NC_000001.11:869213:AAAAAAAAAAAA:AAAAAAAA	(self)
12853368604	NC_000001.11:869213:AAAAAAAAAAAA:A… NC_000001.11:869213:AAAAAAAAAAAA:AAAAAAAA	NC_000001.11:869213:AAAAAAAAAAAA:A… NC_000001.11:869213:AAAAAAAAAAAA:AAAAAAAA	(self)
564, 564, ss1700142711, ss1700153597, ss2986149574, ss3726716561, ss5142053642, ss5831418825, ss5936583123	NC_000001.10:804593:AAA:	NC_000001.11:869213:AAAAAAAAAAAA:A… NC_000001.11:869213:AAAAAAAAAAAA:AAAAAAAAA	(self)
ss1367645431	NC_000001.10:804594:AAA:	NC_000001.11:869213:AAAAAAAAAAAA:A… NC_000001.11:869213:AAAAAAAAAAAA:AAAAAAAAA	(self)
ss3685992565, ss3986931525, ss5240864523, ss5442112727	NC_000001.11:869213:AAA:	NC_000001.11:869213:AAAAAAAAAAAA:A… NC_000001.11:869213:AAAAAAAAAAAA:AAAAAAAAA	(self)
12853368604	NC_000001.11:869213:AAAAAAAAAAAA:A… NC_000001.11:869213:AAAAAAAAAAAA:AAAAAAAAA	NC_000001.11:869213:AAAAAAAAAAAA:A… NC_000001.11:869213:AAAAAAAAAAAA:AAAAAAAAA	(self)
ss5142053640	NC_000001.10:804593:AA:	NC_000001.11:869213:AAAAAAAAAAAA:A… NC_000001.11:869213:AAAAAAAAAAAA:AAAAAAAAAA	(self)
ss3986931524, ss5442112728, ss5666193357	NC_000001.11:869213:AA:	NC_000001.11:869213:AAAAAAAAAAAA:A… NC_000001.11:869213:AAAAAAAAAAAA:AAAAAAAAAA	(self)
12853368604	NC_000001.11:869213:AAAAAAAAAAAA:A… NC_000001.11:869213:AAAAAAAAAAAA:AAAAAAAAAA	NC_000001.11:869213:AAAAAAAAAAAA:A… NC_000001.11:869213:AAAAAAAAAAAA:AAAAAAAAAA	(self)
ss287939328	NC_000001.9:794456:A:	NC_000001.11:869213:AAAAAAAAAAAA:A… NC_000001.11:869213:AAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss663207336, ss3726716563, ss3783302207, ss5142053638	NC_000001.10:804593:A:	NC_000001.11:869213:AAAAAAAAAAAA:A… NC_000001.11:869213:AAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss1367645432	NC_000001.10:804596:A:	NC_000001.11:869213:AAAAAAAAAAAA:A… NC_000001.11:869213:AAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss3063573525, ss4436441393, ss5240864519, ss5442112725, ss5666193358, ss5800244062, ss5848748922, ss5906705384	NC_000001.11:869213:A:	NC_000001.11:869213:AAAAAAAAAAAA:A… NC_000001.11:869213:AAAAAAAAAAAA:AAAAAAAAAAA	(self)
12853368604	NC_000001.11:869213:AAAAAAAAAAAA:A… NC_000001.11:869213:AAAAAAAAAAAA:AAAAAAAAAAA	NC_000001.11:869213:AAAAAAAAAAAA:A… NC_000001.11:869213:AAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss3685992564	NC_000001.11:869215:A:	NC_000001.11:869213:AAAAAAAAAAAA:A… NC_000001.11:869213:AAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss3798743932	NC_000001.11:869216:A:	NC_000001.11:869213:AAAAAAAAAAAA:A… NC_000001.11:869213:AAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss154521627	NT_004350.19:283225:A:	NC_000001.11:869213:AAAAAAAAAAAA:A… NC_000001.11:869213:AAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss193081901	NT_032977.10:283225:A:	NC_000001.11:869213:AAAAAAAAAAAA:A… NC_000001.11:869213:AAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss3726716562, ss5142053639	NC_000001.10:804593::A	NC_000001.11:869213:AAAAAAAAAAAA:A… NC_000001.11:869213:AAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3986931521, ss5240864521, ss5442112726, ss5666193359	NC_000001.11:869213::A	NC_000001.11:869213:AAAAAAAAAAAA:A… NC_000001.11:869213:AAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
12853368604	NC_000001.11:869213:AAAAAAAAAAAA:A… NC_000001.11:869213:AAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000001.11:869213:AAAAAAAAAAAA:A… NC_000001.11:869213:AAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3685992563	NC_000001.11:869216::A	NC_000001.11:869213:AAAAAAAAAAAA:A… NC_000001.11:869213:AAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3986931522, ss5240864520, ss5442112729, ss5666193361	NC_000001.11:869213::AA	NC_000001.11:869213:AAAAAAAAAAAA:A… NC_000001.11:869213:AAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
12853368604	NC_000001.11:869213:AAAAAAAAAAAA:A… NC_000001.11:869213:AAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000001.11:869213:AAAAAAAAAAAA:A… NC_000001.11:869213:AAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3685992562	NC_000001.11:869216::AA	NC_000001.11:869213:AAAAAAAAAAAA:A… NC_000001.11:869213:AAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3986931523	NC_000001.11:869213::AAA	NC_000001.11:869213:AAAAAAAAAAAA:A… NC_000001.11:869213:AAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
12853368604	NC_000001.11:869213:AAAAAAAAAAAA:A… NC_000001.11:869213:AAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000001.11:869213:AAAAAAAAAAAA:A… NC_000001.11:869213:AAAAAAAAAAAA:AAAAAAAAAAAAAAA	(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 rs75244191

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

rs75244191