Name: rs61416767
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.

rs61416767

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:131168870-131168885 (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(T)₉ / del(T)₈ / del(T)₆ / del(…
del(T)₉ / del(T)₈ / del(T)₆ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₉ / dup(T)₁₀
Variation Type: Indel Insertion and Deletion
Frequency: del(T)₉=0.000004 (1/264690, TOPMED)
del(T)₉=0.0000 (0/6854, ALFA)
del(T)₈=0.0000 (0/6854, ALFA) (+ 6 more)
del(T)₆=0.0000 (0/6854, ALFA)
delTT=0.0000 (0/6854, ALFA)
delT=0.0000 (0/6854, ALFA)
dupT=0.0000 (0/6854, ALFA)
dupTT=0.0000 (0/6854, ALFA)
dupTTT=0.0000 (0/6854, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: MKLN1 : 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	Ref HMOZ	HWEP
Total	Global	6854	TTTTTTTTTTTTTTTT=1.0000	TTTTTTT=0.0000, TTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
European	Sub	5416	TTTTTTTTTTTTTTTT=1.0000	TTTTTTT=0.0000, TTTTTTTT=0.0000, TTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
African	Sub	986	TTTTTTTTTTTTTTTT=1.000	TTTTTTT=0.000, TTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000	1.0	N/A
African Others	Sub	42	TTTTTTTTTTTTTTTT=1.00	TTTTTTT=0.00, TTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
African American	Sub	944	TTTTTTTTTTTTTTTT=1.000	TTTTTTT=0.000, TTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000	1.0	N/A
Asian	Sub	24	TTTTTTTTTTTTTTTT=1.00	TTTTTTT=0.00, TTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
East Asian	Sub	20	TTTTTTTTTTTTTTTT=1.00	TTTTTTT=0.00, TTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Other Asian	Sub	4	TTTTTTTTTTTTTTTT=1.0	TTTTTTT=0.0, TTTTTTTT=0.0, TTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0	1.0	N/A
Latin American 1	Sub	64	TTTTTTTTTTTTTTTT=1.00	TTTTTTT=0.00, TTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Latin American 2	Sub	124	TTTTTTTTTTTTTTTT=1.000	TTTTTTT=0.000, TTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000	1.0	N/A
South Asian	Sub	40	TTTTTTTTTTTTTTTT=1.00	TTTTTTT=0.00, TTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Other	Sub	200	TTTTTTTTTTTTTTTT=1.000	TTTTTTT=0.000, TTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000	1.0	N/A

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)₁₆=0.999996	del(T)₉=0.000004
Allele Frequency Aggregator	Total	Global	6854	(T)₁₆=1.0000	del(T)₉=0.0000, del(T)₈=0.0000, del(T)₆=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000
Allele Frequency Aggregator	European	Sub	5416	(T)₁₆=1.0000	del(T)₉=0.0000, del(T)₈=0.0000, del(T)₆=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000
Allele Frequency Aggregator	African	Sub	986	(T)₁₆=1.000	del(T)₉=0.000, del(T)₈=0.000, del(T)₆=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000
Allele Frequency Aggregator	Other	Sub	200	(T)₁₆=1.000	del(T)₉=0.000, del(T)₈=0.000, del(T)₆=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000
Allele Frequency Aggregator	Latin American 2	Sub	124	(T)₁₆=1.000	del(T)₉=0.000, del(T)₈=0.000, del(T)₆=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000
Allele Frequency Aggregator	Latin American 1	Sub	64	(T)₁₆=1.00	del(T)₉=0.00, del(T)₈=0.00, del(T)₆=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00
Allele Frequency Aggregator	South Asian	Sub	40	(T)₁₆=1.00	del(T)₉=0.00, del(T)₈=0.00, del(T)₆=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00
Allele Frequency Aggregator	Asian	Sub	24	(T)₁₆=1.00	del(T)₉=0.00, del(T)₈=0.00, del(T)₆=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00

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 7	NC_000007.14:g.131168877_131168885del
GRCh38.p14 chr 7	NC_000007.14:g.131168878_131168885del
GRCh38.p14 chr 7	NC_000007.14:g.131168880_131168885del
GRCh38.p14 chr 7	NC_000007.14:g.131168882_131168885del
GRCh38.p14 chr 7	NC_000007.14:g.131168883_131168885del
GRCh38.p14 chr 7	NC_000007.14:g.131168884_131168885del
GRCh38.p14 chr 7	NC_000007.14:g.131168885del
GRCh38.p14 chr 7	NC_000007.14:g.131168885dup
GRCh38.p14 chr 7	NC_000007.14:g.131168884_131168885dup
GRCh38.p14 chr 7	NC_000007.14:g.131168883_131168885dup
GRCh38.p14 chr 7	NC_000007.14:g.131168877_131168885dup
GRCh38.p14 chr 7	NC_000007.14:g.131168876_131168885dup
GRCh37.p13 chr 7	NC_000007.13:g.130853636_130853644del
GRCh37.p13 chr 7	NC_000007.13:g.130853637_130853644del
GRCh37.p13 chr 7	NC_000007.13:g.130853639_130853644del
GRCh37.p13 chr 7	NC_000007.13:g.130853641_130853644del
GRCh37.p13 chr 7	NC_000007.13:g.130853642_130853644del
GRCh37.p13 chr 7	NC_000007.13:g.130853643_130853644del
GRCh37.p13 chr 7	NC_000007.13:g.130853644del
GRCh37.p13 chr 7	NC_000007.13:g.130853644dup
GRCh37.p13 chr 7	NC_000007.13:g.130853643_130853644dup
GRCh37.p13 chr 7	NC_000007.13:g.130853642_130853644dup
GRCh37.p13 chr 7	NC_000007.13:g.130853636_130853644dup
GRCh37.p13 chr 7	NC_000007.13:g.130853635_130853644dup

Gene: MKLN1, muskelin 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
MKLN1 transcript variant 1	NM_001145354.2:c.29+25936… NM_001145354.2:c.29+25936_29+25944del	N/A	Intron Variant
MKLN1 transcript variant 3	NM_001321316.2:c.	N/A	Genic Upstream Transcript Variant
MKLN1 transcript variant 2	NM_013255.5:c.	N/A	Genic Upstream Transcript Variant
MKLN1 transcript variant X2	XM_047420401.1:c.29+25936… XM_047420401.1:c.29+25936_29+25944del	N/A	Intron Variant
MKLN1 transcript variant X1	XM_006715993.4:c.	N/A	Genic Upstream Transcript Variant
MKLN1 transcript variant X3	XM_011516224.4:c.	N/A	Genic Upstream Transcript Variant
MKLN1 transcript variant X4	XM_047420402.1:c.	N/A	Genic Upstream Transcript 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)₁₆=	del(T)₉	del(T)₈	del(T)₆	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₉	dup(T)₁₀
GRCh38.p14 chr 7	NC_000007.14:g.131168870_131168885=	NC_000007.14:g.131168877_131168885del	NC_000007.14:g.131168878_131168885del	NC_000007.14:g.131168880_131168885del	NC_000007.14:g.131168882_131168885del	NC_000007.14:g.131168883_131168885del	NC_000007.14:g.131168884_131168885del	NC_000007.14:g.131168885del	NC_000007.14:g.131168885dup	NC_000007.14:g.131168884_131168885dup	NC_000007.14:g.131168883_131168885dup	NC_000007.14:g.131168877_131168885dup	NC_000007.14:g.131168876_131168885dup
GRCh37.p13 chr 7	NC_000007.13:g.130853629_130853644=	NC_000007.13:g.130853636_130853644del	NC_000007.13:g.130853637_130853644del	NC_000007.13:g.130853639_130853644del	NC_000007.13:g.130853641_130853644del	NC_000007.13:g.130853642_130853644del	NC_000007.13:g.130853643_130853644del	NC_000007.13:g.130853644del	NC_000007.13:g.130853644dup	NC_000007.13:g.130853643_130853644dup	NC_000007.13:g.130853642_130853644dup	NC_000007.13:g.130853636_130853644dup	NC_000007.13:g.130853635_130853644dup
MKLN1 transcript variant 1	NM_001145354.1:c.29+25929=	NM_001145354.1:c.29+25936_29+25944del	NM_001145354.1:c.29+25937_29+25944del	NM_001145354.1:c.29+25939_29+25944del	NM_001145354.1:c.29+25941_29+25944del	NM_001145354.1:c.29+25942_29+25944del	NM_001145354.1:c.29+25943_29+25944del	NM_001145354.1:c.29+25944del	NM_001145354.1:c.29+25944dup	NM_001145354.1:c.29+25943_29+25944dup	NM_001145354.1:c.29+25942_29+25944dup	NM_001145354.1:c.29+25936_29+25944dup	NM_001145354.1:c.29+25935_29+25944dup
MKLN1 transcript variant 1	NM_001145354.2:c.29+25929=	NM_001145354.2:c.29+25936_29+25944del	NM_001145354.2:c.29+25937_29+25944del	NM_001145354.2:c.29+25939_29+25944del	NM_001145354.2:c.29+25941_29+25944del	NM_001145354.2:c.29+25942_29+25944del	NM_001145354.2:c.29+25943_29+25944del	NM_001145354.2:c.29+25944del	NM_001145354.2:c.29+25944dup	NM_001145354.2:c.29+25943_29+25944dup	NM_001145354.2:c.29+25942_29+25944dup	NM_001145354.2:c.29+25936_29+25944dup	NM_001145354.2:c.29+25935_29+25944dup
MKLN1 transcript variant X2	XM_047420401.1:c.29+25929=	XM_047420401.1:c.29+25936_29+25944del	XM_047420401.1:c.29+25937_29+25944del	XM_047420401.1:c.29+25939_29+25944del	XM_047420401.1:c.29+25941_29+25944del	XM_047420401.1:c.29+25942_29+25944del	XM_047420401.1:c.29+25943_29+25944del	XM_047420401.1:c.29+25944del	XM_047420401.1:c.29+25944dup	XM_047420401.1:c.29+25943_29+25944dup	XM_047420401.1:c.29+25942_29+25944dup	XM_047420401.1:c.29+25936_29+25944dup	XM_047420401.1:c.29+25935_29+25944dup

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#.

51 SubSNP, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss81671580	Dec 16, 2007 (129)
2	HGSV	ss81732430	Dec 16, 2007 (129)
3	HGSV	ss81938149	Dec 16, 2007 (129)
4	HGSV	ss83805763	Dec 16, 2007 (129)
5	HUMANGENOME_JCVI	ss95475402	Feb 13, 2009 (144)
6	HUMANGENOME_JCVI	ss98213999	Feb 05, 2009 (144)
7	PJP	ss295356635	May 09, 2011 (144)
8	PJP	ss295356636	Jan 10, 2018 (151)
9	SSMP	ss663746071	Apr 01, 2015 (144)
10	SYSTEMSBIOZJU	ss2626848814	Nov 08, 2017 (151)
11	SWEGEN	ss3002055696	Nov 08, 2017 (151)
12	URBANLAB	ss3648755277	Oct 12, 2018 (152)
13	EVA_DECODE	ss3720718180	Jul 13, 2019 (153)
14	EVA_DECODE	ss3720718181	Jul 13, 2019 (153)
15	EVA_DECODE	ss3720718182	Jul 13, 2019 (153)
16	EVA_DECODE	ss3720718183	Jul 13, 2019 (153)
17	EVA_DECODE	ss3720718184	Jul 13, 2019 (153)
18	ACPOP	ss3735082993	Jul 13, 2019 (153)
19	ACPOP	ss3735082994	Jul 13, 2019 (153)
20	PACBIO	ss3785961668	Jul 13, 2019 (153)
21	PACBIO	ss3796119976	Jul 13, 2019 (153)
22	EVA	ss3830826393	Apr 26, 2020 (154)
23	EVA	ss3838912231	Apr 26, 2020 (154)
24	EVA	ss3844368847	Apr 26, 2020 (154)
25	GNOMAD	ss4173342733	Apr 26, 2021 (155)
26	GNOMAD	ss4173342734	Apr 26, 2021 (155)
27	GNOMAD	ss4173342735	Apr 26, 2021 (155)
28	GNOMAD	ss4173342736	Apr 26, 2021 (155)
29	GNOMAD	ss4173342737	Apr 26, 2021 (155)
30	GNOMAD	ss4173342738	Apr 26, 2021 (155)
31	GNOMAD	ss4173342739	Apr 26, 2021 (155)
32	GNOMAD	ss4173342740	Apr 26, 2021 (155)
33	GNOMAD	ss4173342741	Apr 26, 2021 (155)
34	GNOMAD	ss4173342742	Apr 26, 2021 (155)
35	TOPMED	ss4764234692	Apr 26, 2021 (155)
36	TOMMO_GENOMICS	ss5185644799	Apr 26, 2021 (155)
37	TOMMO_GENOMICS	ss5185644800	Apr 26, 2021 (155)
38	TOMMO_GENOMICS	ss5185644801	Apr 26, 2021 (155)
39	TOMMO_GENOMICS	ss5185644802	Apr 26, 2021 (155)
40	1000G_HIGH_COVERAGE	ss5274785821	Oct 13, 2022 (156)
41	1000G_HIGH_COVERAGE	ss5274785822	Oct 13, 2022 (156)
42	1000G_HIGH_COVERAGE	ss5274785823	Oct 13, 2022 (156)
43	HUGCELL_USP	ss5471666641	Oct 13, 2022 (156)
44	HUGCELL_USP	ss5471666642	Oct 13, 2022 (156)
45	HUGCELL_USP	ss5471666643	Oct 13, 2022 (156)
46	HUGCELL_USP	ss5471666644	Oct 13, 2022 (156)
47	HUGCELL_USP	ss5471666645	Oct 13, 2022 (156)
48	TOMMO_GENOMICS	ss5726657831	Oct 13, 2022 (156)
49	TOMMO_GENOMICS	ss5726657832	Oct 13, 2022 (156)
50	TOMMO_GENOMICS	ss5726657833	Oct 13, 2022 (156)
51	TOMMO_GENOMICS	ss5726657835	Oct 13, 2022 (156)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 277054064 (NC_000007.14:131168869::T 34165/127838) Row 277054065 (NC_000007.14:131168869::TT 2648/127912) Row 277054066 (NC_000007.14:131168869::TTT 6/127940)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 277054064 (NC_000007.14:131168869::T 34165/127838) Row 277054065 (NC_000007.14:131168869::TT 2648/127912) Row 277054066 (NC_000007.14:131168869::TTT 6/127940)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 277054064 (NC_000007.14:131168869::T 34165/127838) Row 277054065 (NC_000007.14:131168869::TT 2648/127912) Row 277054066 (NC_000007.14:131168869::TTT 6/127940)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 277054064 (NC_000007.14:131168869::T 34165/127838) Row 277054065 (NC_000007.14:131168869::TT 2648/127912) Row 277054066 (NC_000007.14:131168869::TTT 6/127940)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 277054064 (NC_000007.14:131168869::T 34165/127838) Row 277054065 (NC_000007.14:131168869::TT 2648/127912) Row 277054066 (NC_000007.14:131168869::TTT 6/127940)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 277054064 (NC_000007.14:131168869::T 34165/127838) Row 277054065 (NC_000007.14:131168869::TT 2648/127912) Row 277054066 (NC_000007.14:131168869::TTT 6/127940)...	-	Apr 26, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 277054064 (NC_000007.14:131168869::T 34165/127838) Row 277054065 (NC_000007.14:131168869::TT 2648/127912) Row 277054066 (NC_000007.14:131168869::TTT 6/127940)...	-	Apr 26, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 277054064 (NC_000007.14:131168869::T 34165/127838) Row 277054065 (NC_000007.14:131168869::TT 2648/127912) Row 277054066 (NC_000007.14:131168869::TTT 6/127940)...	-	Apr 26, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 277054064 (NC_000007.14:131168869::T 34165/127838) Row 277054065 (NC_000007.14:131168869::TT 2648/127912) Row 277054066 (NC_000007.14:131168869::TTT 6/127940)...	-	Apr 26, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 277054064 (NC_000007.14:131168869::T 34165/127838) Row 277054065 (NC_000007.14:131168869::TT 2648/127912) Row 277054066 (NC_000007.14:131168869::TTT 6/127940)...	-	Apr 26, 2021 (155)
62	Northern Sweden Submission ignored due to conflicting rows: Row 8367858 (NC_000007.13:130853628:T: 66/598) Row 8367859 (NC_000007.13:130853628::T 103/598)	-	Jul 13, 2019 (153)
63	Northern Sweden Submission ignored due to conflicting rows: Row 8367858 (NC_000007.13:130853628:T: 66/598) Row 8367859 (NC_000007.13:130853628::T 103/598)	-	Jul 13, 2019 (153)
64	8.3KJPN Submission ignored due to conflicting rows: Row 43614106 (NC_000007.13:130853628::T 8311/16684) Row 43614107 (NC_000007.13:130853628:T: 807/16684) Row 43614108 (NC_000007.13:130853628::TT 102/16684)...	-	Apr 26, 2021 (155)
65	8.3KJPN Submission ignored due to conflicting rows: Row 43614106 (NC_000007.13:130853628::T 8311/16684) Row 43614107 (NC_000007.13:130853628:T: 807/16684) Row 43614108 (NC_000007.13:130853628::TT 102/16684)...	-	Apr 26, 2021 (155)
66	8.3KJPN Submission ignored due to conflicting rows: Row 43614106 (NC_000007.13:130853628::T 8311/16684) Row 43614107 (NC_000007.13:130853628:T: 807/16684) Row 43614108 (NC_000007.13:130853628::TT 102/16684)...	-	Apr 26, 2021 (155)
67	8.3KJPN Submission ignored due to conflicting rows: Row 43614106 (NC_000007.13:130853628::T 8311/16684) Row 43614107 (NC_000007.13:130853628:T: 807/16684) Row 43614108 (NC_000007.13:130853628::TT 102/16684)...	-	Apr 26, 2021 (155)
68	14KJPN Submission ignored due to conflicting rows: Row 60494935 (NC_000007.14:131168869::T 14386/28256) Row 60494936 (NC_000007.14:131168869:T: 1376/28256) Row 60494937 (NC_000007.14:131168869::TT 199/28256)...	-	Oct 13, 2022 (156)
69	14KJPN Submission ignored due to conflicting rows: Row 60494935 (NC_000007.14:131168869::T 14386/28256) Row 60494936 (NC_000007.14:131168869:T: 1376/28256) Row 60494937 (NC_000007.14:131168869::TT 199/28256)...	-	Oct 13, 2022 (156)
70	14KJPN Submission ignored due to conflicting rows: Row 60494935 (NC_000007.14:131168869::T 14386/28256) Row 60494936 (NC_000007.14:131168869:T: 1376/28256) Row 60494937 (NC_000007.14:131168869::TT 199/28256)...	-	Oct 13, 2022 (156)
71	14KJPN Submission ignored due to conflicting rows: Row 60494935 (NC_000007.14:131168869::T 14386/28256) Row 60494936 (NC_000007.14:131168869:T: 1376/28256) Row 60494937 (NC_000007.14:131168869::TT 199/28256)...	-	Oct 13, 2022 (156)
72	TopMed	NC_000007.14 - 131168870	Apr 26, 2021 (155)
73	ALFA	NC_000007.14 - 131168870	Apr 26, 2021 (155)

History tab displays RefSNPs (Associated ID) from previous builds (Build) that now support the current RefSNP, and the dates, when the history was updated for each Associated ID (History Updated).

Associated ID	History Updated (Build)
rs67013216	Jul 01, 2015 (144)
rs67013217	Feb 26, 2009 (130)
rs67013218	Feb 26, 2009 (130)
rs67207913	May 11, 2012 (137)
rs67207914	Feb 26, 2009 (130)
rs67207915	Feb 26, 2009 (130)
rs71168376	May 11, 2012 (137)
rs72340785	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
601612251, ss4173342742, ss4764234692	NC_000007.14:131168869:TTTTTTTTT:	NC_000007.14:131168869:TTTTTTTTTTT… NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTT	(self)
970125091	NC_000007.14:131168869:TTTTTTTTTTT… NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTT	NC_000007.14:131168869:TTTTTTTTTTT… NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTT	(self)
ss4173342741, ss5471666645	NC_000007.14:131168869:TTTTTTTT:	NC_000007.14:131168869:TTTTTTTTTTT… NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTTT	(self)
970125091	NC_000007.14:131168869:TTTTTTTTTTT… NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTTT	NC_000007.14:131168869:TTTTTTTTTTT… NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTTT	(self)
970125091	NC_000007.14:131168869:TTTTTTTTTTT… NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTTTTT	NC_000007.14:131168869:TTTTTTTTTTT… NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
ss4173342740	NC_000007.14:131168869:TTTT:	NC_000007.14:131168869:TTTTTTTTTTT… NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss4173342739	NC_000007.14:131168869:TTT:	NC_000007.14:131168869:TTTTTTTTTTT… NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss3720718180, ss4173342738, ss5471666642	NC_000007.14:131168869:TT:	NC_000007.14:131168869:TTTTTTTTTTT… NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
970125091	NC_000007.14:131168869:TTTTTTTTTTT… NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000007.14:131168869:TTTTTTTTTTT… NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss295356635	NC_000007.12:130504168:T:	NC_000007.14:131168869:TTTTTTTTTTT… NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3002055696, ss3735082993, ss3838912231, ss5185644800	NC_000007.13:130853628:T:	NC_000007.14:131168869:TTTTTTTTTTT… NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3648755277, ss3844368847, ss4173342737, ss5274785823, ss5471666643, ss5726657832	NC_000007.14:131168869:T:	NC_000007.14:131168869:TTTTTTTTTTT… NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
970125091	NC_000007.14:131168869:TTTTTTTTTTT… NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000007.14:131168869:TTTTTTTTTTT… NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3720718181	NC_000007.14:131168870:T:	NC_000007.14:131168869:TTTTTTTTTTT… NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss98213999	NT_007933.15:68886471:T:	NC_000007.14:131168869:TTTTTTTTTTT… NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss95475402	NT_007933.15:68886486:T:	NC_000007.14:131168869:TTTTTTTTTTT… NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss295356636	NC_000007.12:130504184::T	NC_000007.14:131168869:TTTTTTTTTTT… NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss663746071, ss2626848814, ss3735082994, ss3785961668, ss3796119976, ss3830826393, ss5185644799	NC_000007.13:130853628::T	NC_000007.14:131168869:TTTTTTTTTTT… NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4173342733, ss5274785821, ss5471666641, ss5726657831	NC_000007.14:131168869::T	NC_000007.14:131168869:TTTTTTTTTTT… NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
970125091	NC_000007.14:131168869:TTTTTTTTTTT… NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000007.14:131168869:TTTTTTTTTTT… NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3720718182	NC_000007.14:131168871::T	NC_000007.14:131168869:TTTTTTTTTTT… NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss81671580, ss81732430, ss81938149	NT_007933.15:68886487::T	NC_000007.14:131168869:TTTTTTTTTTT… NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss5185644801	NC_000007.13:130853628::TT	NC_000007.14:131168869:TTTTTTTTTTT… NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4173342734, ss5274785822, ss5471666644, ss5726657833	NC_000007.14:131168869::TT	NC_000007.14:131168869:TTTTTTTTTTT… NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
970125091	NC_000007.14:131168869:TTTTTTTTTTT… NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000007.14:131168869:TTTTTTTTTTT… NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3720718183	NC_000007.14:131168871::TT	NC_000007.14:131168869:TTTTTTTTTTT… NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss83805763	NT_007933.15:68886487::TT	NC_000007.14:131168869:TTTTTTTTTTT… NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss5185644802	NC_000007.13:130853628::TTT	NC_000007.14:131168869:TTTTTTTTTTT… NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4173342735, ss5726657835	NC_000007.14:131168869::TTT	NC_000007.14:131168869:TTTTTTTTTTT… NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
970125091	NC_000007.14:131168869:TTTTTTTTTTT… NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000007.14:131168869:TTTTTTTTTTT… NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4173342736	NC_000007.14:131168869::TTTTTTTTT	NC_000007.14:131168869:TTTTTTTTTTT… NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss3720718184	NC_000007.14:131168871::TTTTTTTTTT	NC_000007.14:131168869:TTTTTTTTTTT… NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
376200163, ss3544771246	NC_000007.14:131168869:TTTTTT:	NC_000007.14:131168869:TTTTTTTTTTT… NC_000007.14:131168869:TTTTTTTTTTTTTTTT:TTTTTTTTTT

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

No publications for rs61416767

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

rs61416767