Name: rs112425530
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.

rs112425530

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:37989624-37989635 (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: delTT / delT / dupT / dupTT / dupT…
delTT / delT / dupT / dupTT / dupTTT
Variation Type: Indel Insertion and Deletion
Frequency: dupT=0.085674 (22677/264690, TOPMED)
dupT=0.07873 (1744/22152, ALFA)
(T)₁₂=0.124 (85/688, 1000G) (+ 2 more)
dupT=0.114 (68/598, NorthernSweden)
dupT=0.12 (5/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: RMDN2 : Intron Variant
RMDN2-AS1 : 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	Alt HMOZ	HTRZ	HWEP
Total	Global	22152	TTTTTTTTTTTT=0.86322	TTTTTTTTTTT=0.05602, TTTTTTTTTTTTT=0.07873, TTTTTTTTTT=0.00059, TTTTTTTTTTTTTT=0.00144	0.827989	0.003995	0.168016	12
European	Sub	15991	TTTTTTTTTTTT=0.86561	TTTTTTTTTTT=0.05028, TTTTTTTTTTTTT=0.08230, TTTTTTTTTT=0.00063, TTTTTTTTTTTTTT=0.00119	0.823414	0.005461	0.171124	5
African	Sub	2699	TTTTTTTTTTTT=0.9278	TTTTTTTTTTT=0.0437, TTTTTTTTTTTTT=0.0267, TTTTTTTTTT=0.0004, TTTTTTTTTTTTTT=0.0015	0.94295	0.0	0.05705	1
African Others	Sub	84	TTTTTTTTTTTT=0.95	TTTTTTTTTTT=0.01, TTTTTTTTTTTTT=0.04, TTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00	0.95122	0.0	0.04878	0
African American	Sub	2615	TTTTTTTTTTTT=0.9270	TTTTTTTTTTT=0.0447, TTTTTTTTTTTTT=0.0264, TTTTTTTTTT=0.0004, TTTTTTTTTTTTTT=0.0015	0.942664	0.0	0.057336	1
Asian	Sub	160	TTTTTTTTTTTT=0.906	TTTTTTTTTTT=0.037, TTTTTTTTTTTTT=0.050, TTTTTTTTTT=0.006, TTTTTTTTTTTTTT=0.000	0.888889	0.0	0.111111	0
East Asian	Sub	106	TTTTTTTTTTTT=0.943	TTTTTTTTTTT=0.019, TTTTTTTTTTTTT=0.038, TTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000	0.92	0.0	0.08	0
Other Asian	Sub	54	TTTTTTTTTTTT=0.83	TTTTTTTTTTT=0.07, TTTTTTTTTTTTT=0.07, TTTTTTTTTT=0.02, TTTTTTTTTTTTTT=0.00	0.818182	0.0	0.181818	0
Latin American 1	Sub	122	TTTTTTTTTTTT=1.000	TTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Latin American 2	Sub	512	TTTTTTTTTTTT=1.000	TTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	64	TTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	2604	TTTTTTTTTTTT=0.7423	TTTTTTTTTTT=0.1202, TTTTTTTTTTTTT=0.1336, TTTTTTTTTT=0.0004, TTTTTTTTTTTTTT=0.0035	0.650206	0.0	0.349794	23

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	- No frequency provided	dupT=0.085674
Allele Frequency Aggregator	Total	Global	22152	(T)₁₂=0.86322	delTT=0.00059, delT=0.05602, dupT=0.07873, dupTT=0.00144
Allele Frequency Aggregator	European	Sub	15991	(T)₁₂=0.86561	delTT=0.00063, delT=0.05028, dupT=0.08230, dupTT=0.00119
Allele Frequency Aggregator	African	Sub	2699	(T)₁₂=0.9278	delTT=0.0004, delT=0.0437, dupT=0.0267, dupTT=0.0015
Allele Frequency Aggregator	Other	Sub	2604	(T)₁₂=0.7423	delTT=0.0004, delT=0.1202, dupT=0.1336, dupTT=0.0035
Allele Frequency Aggregator	Latin American 2	Sub	512	(T)₁₂=1.000	delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000
Allele Frequency Aggregator	Asian	Sub	160	(T)₁₂=0.906	delTT=0.006, delT=0.037, dupT=0.050, dupTT=0.000
Allele Frequency Aggregator	Latin American 1	Sub	122	(T)₁₂=1.000	delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000
Allele Frequency Aggregator	South Asian	Sub	64	(T)₁₂=1.00	delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00
1000Genomes	Global	Study-wide	688	(T)₁₂=0.124	delT=0.876
1000Genomes	African	Sub	328	(T)₁₂=0.162	delT=0.838
1000Genomes	East Asian	Sub	114	(T)₁₂=0.026	delT=0.974
1000Genomes	South Asian	Sub	113	(T)₁₂=0.159	delT=0.841
1000Genomes	Europe	Sub	76	(T)₁₂=0.12	delT=0.88
1000Genomes	American	Sub	57	(T)₁₂=0.04	delT=0.96
Northern Sweden	ACPOP	Study-wide	598	- No frequency provided	dupT=0.114
The Danish reference pan genome	Danish	Study-wide	40	- No frequency provided	dupT=0.12

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 2	NC_000002.12:g.37989634_37989635del
GRCh38.p14 chr 2	NC_000002.12:g.37989635del
GRCh38.p14 chr 2	NC_000002.12:g.37989635dup
GRCh38.p14 chr 2	NC_000002.12:g.37989634_37989635dup
GRCh38.p14 chr 2	NC_000002.12:g.37989633_37989635dup
GRCh37.p13 chr 2	NC_000002.11:g.38216777_38216778del
GRCh37.p13 chr 2	NC_000002.11:g.38216778del
GRCh37.p13 chr 2	NC_000002.11:g.38216778dup
GRCh37.p13 chr 2	NC_000002.11:g.38216777_38216778dup
GRCh37.p13 chr 2	NC_000002.11:g.38216776_38216778dup

Gene: RMDN2, regulator of microtubule dynamics 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RMDN2 transcript variant 2	NM_001170791.3:c.867+18_8… NM_001170791.3:c.867+18_867+19del	N/A	Intron Variant
RMDN2 transcript variant 3	NM_001170792.3:c.867+18_8… NM_001170792.3:c.867+18_867+19del	N/A	Intron Variant
RMDN2 transcript variant 4	NM_001170793.3:c.432+18_4… NM_001170793.3:c.432+18_432+19del	N/A	Intron Variant
RMDN2 transcript variant 5	NM_001322211.2:c.867+18_8… NM_001322211.2:c.867+18_867+19del	N/A	Intron Variant
RMDN2 transcript variant 6	NM_001322212.2:c.867+18_8… NM_001322212.2:c.867+18_867+19del	N/A	Intron Variant
RMDN2 transcript variant 1	NM_144713.5:c.1401+18_140… NM_144713.5:c.1401+18_1401+19del	N/A	Intron Variant
RMDN2 transcript variant X1	XM_011532614.4:c.1401+18_… XM_011532614.4:c.1401+18_1401+19del	N/A	Intron Variant
RMDN2 transcript variant X2	XM_011532615.4:c.1401+18_… XM_011532615.4:c.1401+18_1401+19del	N/A	Intron Variant
RMDN2 transcript variant X5	XM_011532616.3:c.867+18_8… XM_011532616.3:c.867+18_867+19del	N/A	Intron Variant
RMDN2 transcript variant X3	XM_017003474.2:c.1401+18_… XM_017003474.2:c.1401+18_1401+19del	N/A	Intron Variant
RMDN2 transcript variant X6	XM_017003476.3:c.867+18_8… XM_017003476.3:c.867+18_867+19del	N/A	Intron Variant
RMDN2 transcript variant X7	XM_017003477.3:c.867+18_8… XM_017003477.3:c.867+18_867+19del	N/A	Intron Variant
RMDN2 transcript variant X8	XM_017003478.2:c.867+18_8… XM_017003478.2:c.867+18_867+19del	N/A	Intron Variant
RMDN2 transcript variant X9	XM_047443518.1:c.867+18_8… XM_047443518.1:c.867+18_867+19del	N/A	Intron Variant
RMDN2 transcript variant X10	XM_047443519.1:c.867+18_8… XM_047443519.1:c.867+18_867+19del	N/A	Intron Variant
RMDN2 transcript variant X11	XM_047443520.1:c.432+18_4… XM_047443520.1:c.432+18_432+19del	N/A	Intron Variant
RMDN2 transcript variant X12	XM_047443521.1:c.432+18_4… XM_047443521.1:c.432+18_432+19del	N/A	Intron Variant
RMDN2 transcript variant X4	XR_939668.4:n.	N/A	Intron Variant

Gene: RMDN2-AS1, RMDN2 antisense RNA 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RMDN2-AS1 transcript	NR_102712.1: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	(T)₁₂=	delTT	delT	dupT	dupTT	dupTTT
GRCh38.p14 chr 2	NC_000002.12:g.37989624_37989635=	NC_000002.12:g.37989634_37989635del	NC_000002.12:g.37989635del	NC_000002.12:g.37989635dup	NC_000002.12:g.37989634_37989635dup	NC_000002.12:g.37989633_37989635dup
GRCh37.p13 chr 2	NC_000002.11:g.38216767_38216778=	NC_000002.11:g.38216777_38216778del	NC_000002.11:g.38216778del	NC_000002.11:g.38216778dup	NC_000002.11:g.38216777_38216778dup	NC_000002.11:g.38216776_38216778dup
RMDN2 transcript variant 3	NM_001170791.1:c.867+8=	NM_001170791.1:c.867+18_867+19del	NM_001170791.1:c.867+19del	NM_001170791.1:c.867+19dup	NM_001170791.1:c.867+18_867+19dup	NM_001170791.1:c.867+17_867+19dup
RMDN2 transcript variant 2	NM_001170791.3:c.867+8=	NM_001170791.3:c.867+18_867+19del	NM_001170791.3:c.867+19del	NM_001170791.3:c.867+19dup	NM_001170791.3:c.867+18_867+19dup	NM_001170791.3:c.867+17_867+19dup
RMDN2 transcript variant 2	NM_001170792.1:c.867+8=	NM_001170792.1:c.867+18_867+19del	NM_001170792.1:c.867+19del	NM_001170792.1:c.867+19dup	NM_001170792.1:c.867+18_867+19dup	NM_001170792.1:c.867+17_867+19dup
RMDN2 transcript variant 3	NM_001170792.3:c.867+8=	NM_001170792.3:c.867+18_867+19del	NM_001170792.3:c.867+19del	NM_001170792.3:c.867+19dup	NM_001170792.3:c.867+18_867+19dup	NM_001170792.3:c.867+17_867+19dup
RMDN2 transcript variant 4	NM_001170793.1:c.432+8=	NM_001170793.1:c.432+18_432+19del	NM_001170793.1:c.432+19del	NM_001170793.1:c.432+19dup	NM_001170793.1:c.432+18_432+19dup	NM_001170793.1:c.432+17_432+19dup
RMDN2 transcript variant 4	NM_001170793.3:c.432+8=	NM_001170793.3:c.432+18_432+19del	NM_001170793.3:c.432+19del	NM_001170793.3:c.432+19dup	NM_001170793.3:c.432+18_432+19dup	NM_001170793.3:c.432+17_432+19dup
RMDN2 transcript variant 5	NM_001322211.2:c.867+8=	NM_001322211.2:c.867+18_867+19del	NM_001322211.2:c.867+19del	NM_001322211.2:c.867+19dup	NM_001322211.2:c.867+18_867+19dup	NM_001322211.2:c.867+17_867+19dup
RMDN2 transcript variant 6	NM_001322212.2:c.867+8=	NM_001322212.2:c.867+18_867+19del	NM_001322212.2:c.867+19del	NM_001322212.2:c.867+19dup	NM_001322212.2:c.867+18_867+19dup	NM_001322212.2:c.867+17_867+19dup
RMDN2 transcript variant 1	NM_144713.3:c.1401+8=	NM_144713.3:c.1401+18_1401+19del	NM_144713.3:c.1401+19del	NM_144713.3:c.1401+19dup	NM_144713.3:c.1401+18_1401+19dup	NM_144713.3:c.1401+17_1401+19dup
RMDN2 transcript variant 1	NM_144713.5:c.1401+8=	NM_144713.5:c.1401+18_1401+19del	NM_144713.5:c.1401+19del	NM_144713.5:c.1401+19dup	NM_144713.5:c.1401+18_1401+19dup	NM_144713.5:c.1401+17_1401+19dup
RMDN2 transcript variant X1	XM_005264161.1:c.867+8=	XM_005264161.1:c.867+18_867+19del	XM_005264161.1:c.867+19del	XM_005264161.1:c.867+19dup	XM_005264161.1:c.867+18_867+19dup	XM_005264161.1:c.867+17_867+19dup
RMDN2 transcript variant X2	XM_005264162.1:c.432+8=	XM_005264162.1:c.432+18_432+19del	XM_005264162.1:c.432+19del	XM_005264162.1:c.432+19dup	XM_005264162.1:c.432+18_432+19dup	XM_005264162.1:c.432+17_432+19dup
RMDN2 transcript variant X1	XM_011532614.4:c.1401+8=	XM_011532614.4:c.1401+18_1401+19del	XM_011532614.4:c.1401+19del	XM_011532614.4:c.1401+19dup	XM_011532614.4:c.1401+18_1401+19dup	XM_011532614.4:c.1401+17_1401+19dup
RMDN2 transcript variant X2	XM_011532615.4:c.1401+8=	XM_011532615.4:c.1401+18_1401+19del	XM_011532615.4:c.1401+19del	XM_011532615.4:c.1401+19dup	XM_011532615.4:c.1401+18_1401+19dup	XM_011532615.4:c.1401+17_1401+19dup
RMDN2 transcript variant X5	XM_011532616.3:c.867+8=	XM_011532616.3:c.867+18_867+19del	XM_011532616.3:c.867+19del	XM_011532616.3:c.867+19dup	XM_011532616.3:c.867+18_867+19dup	XM_011532616.3:c.867+17_867+19dup
RMDN2 transcript variant X3	XM_017003474.2:c.1401+8=	XM_017003474.2:c.1401+18_1401+19del	XM_017003474.2:c.1401+19del	XM_017003474.2:c.1401+19dup	XM_017003474.2:c.1401+18_1401+19dup	XM_017003474.2:c.1401+17_1401+19dup
RMDN2 transcript variant X6	XM_017003476.3:c.867+8=	XM_017003476.3:c.867+18_867+19del	XM_017003476.3:c.867+19del	XM_017003476.3:c.867+19dup	XM_017003476.3:c.867+18_867+19dup	XM_017003476.3:c.867+17_867+19dup
RMDN2 transcript variant X7	XM_017003477.3:c.867+8=	XM_017003477.3:c.867+18_867+19del	XM_017003477.3:c.867+19del	XM_017003477.3:c.867+19dup	XM_017003477.3:c.867+18_867+19dup	XM_017003477.3:c.867+17_867+19dup
RMDN2 transcript variant X8	XM_017003478.2:c.867+8=	XM_017003478.2:c.867+18_867+19del	XM_017003478.2:c.867+19del	XM_017003478.2:c.867+19dup	XM_017003478.2:c.867+18_867+19dup	XM_017003478.2:c.867+17_867+19dup
RMDN2 transcript variant X9	XM_047443518.1:c.867+8=	XM_047443518.1:c.867+18_867+19del	XM_047443518.1:c.867+19del	XM_047443518.1:c.867+19dup	XM_047443518.1:c.867+18_867+19dup	XM_047443518.1:c.867+17_867+19dup
RMDN2 transcript variant X10	XM_047443519.1:c.867+8=	XM_047443519.1:c.867+18_867+19del	XM_047443519.1:c.867+19del	XM_047443519.1:c.867+19dup	XM_047443519.1:c.867+18_867+19dup	XM_047443519.1:c.867+17_867+19dup
RMDN2 transcript variant X11	XM_047443520.1:c.432+8=	XM_047443520.1:c.432+18_432+19del	XM_047443520.1:c.432+19del	XM_047443520.1:c.432+19dup	XM_047443520.1:c.432+18_432+19dup	XM_047443520.1:c.432+17_432+19dup
RMDN2 transcript variant X12	XM_047443521.1:c.432+8=	XM_047443521.1:c.432+18_432+19del	XM_047443521.1:c.432+19del	XM_047443521.1:c.432+19dup	XM_047443521.1:c.432+18_432+19dup	XM_047443521.1:c.432+17_432+19dup

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#.

42 SubSNP, 18 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BUSHMAN	ss193535040	Jul 04, 2010 (132)
2	BILGI_BIOE	ss666144920	Apr 25, 2013 (138)
3	SSIP	ss947050331	Aug 21, 2014 (142)
4	1000GENOMES	ss1368177912	Aug 21, 2014 (142)
5	1000GENOMES	ss1368177913	Aug 21, 2014 (142)
6	EVA_GENOME_DK	ss1575387352	Apr 01, 2015 (144)
7	EVA_EXAC	ss1711670553	Apr 01, 2015 (144)
8	EVA_EXAC	ss1711670554	Apr 01, 2015 (144)
9	EVA_EXAC	ss1711670555	Apr 01, 2015 (144)
10	EVA_EXAC	ss1711670556	Jan 10, 2018 (151)
11	EVA_EXAC	ss1711670557	Apr 01, 2015 (144)
12	SWEGEN	ss2989309929	Nov 08, 2017 (151)
13	EVA_DECODE	ss3703651933	Jul 13, 2019 (153)
14	EVA_DECODE	ss3703651934	Jul 13, 2019 (153)
15	ACPOP	ss3728331178	Jul 13, 2019 (153)
16	PACBIO	ss3783833620	Jul 13, 2019 (153)
17	KHV_HUMAN_GENOMES	ss3800985565	Jul 13, 2019 (153)
18	EVA	ss3836870435	Apr 25, 2020 (154)
19	EVA	ss3842285370	Apr 25, 2020 (154)
20	FSA-LAB	ss3984173929	Apr 26, 2021 (155)
21	FSA-LAB	ss3984173930	Apr 26, 2021 (155)
22	GNOMAD	ss4039051244	Apr 26, 2021 (155)
23	GNOMAD	ss4039051245	Apr 26, 2021 (155)
24	GNOMAD	ss4039051246	Apr 26, 2021 (155)
25	GNOMAD	ss4039051247	Apr 26, 2021 (155)
26	TOPMED	ss4501229110	Apr 26, 2021 (155)
27	TOMMO_GENOMICS	ss5150789659	Apr 26, 2021 (155)
28	TOMMO_GENOMICS	ss5150789660	Apr 26, 2021 (155)
29	GENOMICARE	ss5240837867	Oct 13, 2022 (156)
30	GENOMICARE	ss5240837868	Oct 13, 2022 (156)
31	1000G_HIGH_COVERAGE	ss5247627209	Oct 13, 2022 (156)
32	1000G_HIGH_COVERAGE	ss5247627210	Oct 13, 2022 (156)
33	1000G_HIGH_COVERAGE	ss5247627211	Oct 13, 2022 (156)
34	HUGCELL_USP	ss5447870075	Oct 13, 2022 (156)
35	HUGCELL_USP	ss5447870076	Oct 13, 2022 (156)
36	HUGCELL_USP	ss5447870077	Oct 13, 2022 (156)
37	EVA	ss5624098593	Oct 13, 2022 (156)
38	TOMMO_GENOMICS	ss5679248017	Oct 13, 2022 (156)
39	TOMMO_GENOMICS	ss5679248018	Oct 13, 2022 (156)
40	EVA	ss5800048499	Oct 13, 2022 (156)
41	EVA	ss5800094057	Oct 13, 2022 (156)
42	YY_MCH	ss5802099850	Oct 13, 2022 (156)
43	1000Genomes	NC_000002.11 - 38216767	Oct 11, 2018 (152)
44	ExAC Submission ignored due to conflicting rows: Row 6138887 (NC_000002.11:38216766:TT: 22/83550) Row 6138888 (NC_000002.11:38216766:T: 12148/83550) Row 6138889 (NC_000002.11:38216766::T 16536/83550) Row 6138890 (NC_000002.11:38216766::TT 218/83550) Row 6138891 (NC_000002.11:38216766::TTT 2/83550)	-	Oct 11, 2018 (152)
45	ExAC Submission ignored due to conflicting rows: Row 6138887 (NC_000002.11:38216766:TT: 22/83550) Row 6138888 (NC_000002.11:38216766:T: 12148/83550) Row 6138889 (NC_000002.11:38216766::T 16536/83550) Row 6138890 (NC_000002.11:38216766::TT 218/83550) Row 6138891 (NC_000002.11:38216766::TTT 2/83550)	-	Oct 11, 2018 (152)
46	ExAC Submission ignored due to conflicting rows: Row 6138887 (NC_000002.11:38216766:TT: 22/83550) Row 6138888 (NC_000002.11:38216766:T: 12148/83550) Row 6138889 (NC_000002.11:38216766::T 16536/83550) Row 6138890 (NC_000002.11:38216766::TT 218/83550) Row 6138891 (NC_000002.11:38216766::TTT 2/83550)	-	Oct 11, 2018 (152)
47	ExAC Submission ignored due to conflicting rows: Row 6138887 (NC_000002.11:38216766:TT: 22/83550) Row 6138888 (NC_000002.11:38216766:T: 12148/83550) Row 6138889 (NC_000002.11:38216766::T 16536/83550) Row 6138890 (NC_000002.11:38216766::TT 218/83550) Row 6138891 (NC_000002.11:38216766::TTT 2/83550)	-	Oct 11, 2018 (152)
48	ExAC Submission ignored due to conflicting rows: Row 6138887 (NC_000002.11:38216766:TT: 22/83550) Row 6138888 (NC_000002.11:38216766:T: 12148/83550) Row 6138889 (NC_000002.11:38216766::T 16536/83550) Row 6138890 (NC_000002.11:38216766::TT 218/83550) Row 6138891 (NC_000002.11:38216766::TTT 2/83550)	-	Oct 11, 2018 (152)
49	The Danish reference pan genome	NC_000002.11 - 38216767	Apr 25, 2020 (154)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 54365828 (NC_000002.12:37989623::T 12502/129616) Row 54365829 (NC_000002.12:37989623::TT 29/129690) Row 54365830 (NC_000002.12:37989623:T: 4250/129554)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 54365828 (NC_000002.12:37989623::T 12502/129616) Row 54365829 (NC_000002.12:37989623::TT 29/129690) Row 54365830 (NC_000002.12:37989623:T: 4250/129554)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 54365828 (NC_000002.12:37989623::T 12502/129616) Row 54365829 (NC_000002.12:37989623::TT 29/129690) Row 54365830 (NC_000002.12:37989623:T: 4250/129554)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 54365828 (NC_000002.12:37989623::T 12502/129616) Row 54365829 (NC_000002.12:37989623::TT 29/129690) Row 54365830 (NC_000002.12:37989623:T: 4250/129554)...	-	Apr 26, 2021 (155)
54	Northern Sweden	NC_000002.11 - 38216767	Jul 13, 2019 (153)
55	8.3KJPN Submission ignored due to conflicting rows: Row 8758966 (NC_000002.11:38216766:T: 175/16760) Row 8758967 (NC_000002.11:38216766::T 48/16760)	-	Apr 26, 2021 (155)
56	8.3KJPN Submission ignored due to conflicting rows: Row 8758966 (NC_000002.11:38216766:T: 175/16760) Row 8758967 (NC_000002.11:38216766::T 48/16760)	-	Apr 26, 2021 (155)
57	14KJPN Submission ignored due to conflicting rows: Row 13085121 (NC_000002.12:37989623:T: 273/28258) Row 13085122 (NC_000002.12:37989623::T 75/28258)	-	Oct 13, 2022 (156)
58	14KJPN Submission ignored due to conflicting rows: Row 13085121 (NC_000002.12:37989623:T: 273/28258) Row 13085122 (NC_000002.12:37989623::T 75/28258)	-	Oct 13, 2022 (156)
59	TopMed	NC_000002.12 - 37989624	Apr 26, 2021 (155)
60	ALFA	NC_000002.12 - 37989624	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)
rs796112281	Nov 08, 2017 (151)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss1711670556	NC_000002.11:38216766:TT:	NC_000002.12:37989623:TTTTTTTTTTTT… NC_000002.12:37989623:TTTTTTTTTTTT:TTTTTTTTTT	(self)
ss4039051247	NC_000002.12:37989623:TT:	NC_000002.12:37989623:TTTTTTTTTTTT… NC_000002.12:37989623:TTTTTTTTTTTT:TTTTTTTTTT	(self)
11219454045	NC_000002.12:37989623:TTTTTTTTTTTT… NC_000002.12:37989623:TTTTTTTTTTTT:TTTTTTTTTT	NC_000002.12:37989623:TTTTTTTTTTTT… NC_000002.12:37989623:TTTTTTTTTTTT:TTTTTTTTTT	(self)
7660966, ss1368177912, ss1711670555, ss2989309929, ss3783833620, ss5150789659, ss5240837867, ss5240837868	NC_000002.11:38216766:T:	NC_000002.12:37989623:TTTTTTTTTTTT… NC_000002.12:37989623:TTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss3703651933, ss4039051246, ss5247627209, ss5447870075, ss5679248017	NC_000002.12:37989623:T:	NC_000002.12:37989623:TTTTTTTTTTTT… NC_000002.12:37989623:TTTTTTTTTTTT:TTTTTTTTTTT	(self)
11219454045	NC_000002.12:37989623:TTTTTTTTTTTT… NC_000002.12:37989623:TTTTTTTTTTTT:TTTTTTTTTTT	NC_000002.12:37989623:TTTTTTTTTTTT… NC_000002.12:37989623:TTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss193535040	NT_022184.16:21843504:T:	NC_000002.12:37989623:TTTTTTTTTTTT… NC_000002.12:37989623:TTTTTTTTTTTT:TTTTTTTTTTT	(self)
660572, 1616043, ss666144920, ss947050331, ss1575387352, ss1711670553, ss3728331178, ss3836870435, ss3984173929, ss5150789660, ss5624098593, ss5800048499, ss5800094057	NC_000002.11:38216766::T	NC_000002.12:37989623:TTTTTTTTTTTT… NC_000002.12:37989623:TTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss1368177913	NC_000002.11:38216767::T	NC_000002.12:37989623:TTTTTTTTTTTT… NC_000002.12:37989623:TTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss3984173930	NC_000002.11:38216778::T	NC_000002.12:37989623:TTTTTTTTTTTT… NC_000002.12:37989623:TTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
305051989, ss3842285370, ss4039051244, ss4501229110, ss5247627210, ss5447870076, ss5679248018, ss5802099850	NC_000002.12:37989623::T	NC_000002.12:37989623:TTTTTTTTTTTT… NC_000002.12:37989623:TTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
11219454045	NC_000002.12:37989623:TTTTTTTTTTTT… NC_000002.12:37989623:TTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000002.12:37989623:TTTTTTTTTTTT… NC_000002.12:37989623:TTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss3703651934, ss3800985565	NC_000002.12:37989624::T	NC_000002.12:37989623:TTTTTTTTTTTT… NC_000002.12:37989623:TTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss1711670554	NC_000002.11:38216766::TT	NC_000002.12:37989623:TTTTTTTTTTTT… NC_000002.12:37989623:TTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss4039051245, ss5247627211, ss5447870077	NC_000002.12:37989623::TT	NC_000002.12:37989623:TTTTTTTTTTTT… NC_000002.12:37989623:TTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
11219454045	NC_000002.12:37989623:TTTTTTTTTTTT… NC_000002.12:37989623:TTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000002.12:37989623:TTTTTTTTTTTT… NC_000002.12:37989623:TTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss1711670557	NC_000002.11:38216766::TTT	NC_000002.12:37989623:TTTTTTTTTTTT… NC_000002.12:37989623:TTTTTTTTTTTT:TTTTTTTTTTTTTTT	(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 rs112425530

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

rs112425530