Name: rs34983635
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.

rs34983635

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:173949130-173949140 (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: delGG / delG / dupG / dupGG / dupG…
delGG / delG / dupG / dupGG / dupGGG / dup(G)₄
Variation Type: Indel Insertion and Deletion
Frequency: delG=0.2696 (1350/5008, 1000G)
delGG=0.0000 (0/4788, ALFA)
delG=0.0000 (0/4788, ALFA) (+ 4 more)
dupG=0.0000 (0/4788, ALFA)
dupGG=0.0000 (0/4788, ALFA)
dupGGG=0.0000 (0/4788, ALFA)
delG=0.26 (10/38, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: RC3H1 : 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	4788	GGGGGGGGGGG=1.0000	GGGGGGGGG=0.0000, GGGGGGGGGG=0.0000, GGGGGGGGGGGG=0.0000, GGGGGGGGGGGGG=0.0000, GGGGGGGGGGGGGG=0.0000	1.0	N/A
European	Sub	3462	GGGGGGGGGGG=1.0000	GGGGGGGGG=0.0000, GGGGGGGGGG=0.0000, GGGGGGGGGGGG=0.0000, GGGGGGGGGGGGG=0.0000, GGGGGGGGGGGGGG=0.0000	1.0	N/A
African	Sub	696	GGGGGGGGGGG=1.000	GGGGGGGGG=0.000, GGGGGGGGGG=0.000, GGGGGGGGGGGG=0.000, GGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGG=0.000	1.0	N/A
African Others	Sub	22	GGGGGGGGGGG=1.00	GGGGGGGGG=0.00, GGGGGGGGGG=0.00, GGGGGGGGGGGG=0.00, GGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGG=0.00	1.0	N/A
African American	Sub	674	GGGGGGGGGGG=1.000	GGGGGGGGG=0.000, GGGGGGGGGG=0.000, GGGGGGGGGGGG=0.000, GGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGG=0.000	1.0	N/A
Asian	Sub	40	GGGGGGGGGGG=1.00	GGGGGGGGG=0.00, GGGGGGGGGG=0.00, GGGGGGGGGGGG=0.00, GGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGG=0.00	1.0	N/A
East Asian	Sub	26	GGGGGGGGGGG=1.00	GGGGGGGGG=0.00, GGGGGGGGGG=0.00, GGGGGGGGGGGG=0.00, GGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGG=0.00	1.0	N/A
Other Asian	Sub	14	GGGGGGGGGGG=1.00	GGGGGGGGG=0.00, GGGGGGGGGG=0.00, GGGGGGGGGGGG=0.00, GGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGG=0.00	1.0	N/A
Latin American 1	Sub	62	GGGGGGGGGGG=1.00	GGGGGGGGG=0.00, GGGGGGGGGG=0.00, GGGGGGGGGGGG=0.00, GGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGG=0.00	1.0	N/A
Latin American 2	Sub	318	GGGGGGGGGGG=1.000	GGGGGGGGG=0.000, GGGGGGGGGG=0.000, GGGGGGGGGGGG=0.000, GGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGG=0.000	1.0	N/A
South Asian	Sub	44	GGGGGGGGGGG=1.00	GGGGGGGGG=0.00, GGGGGGGGGG=0.00, GGGGGGGGGGGG=0.00, GGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGG=0.00	1.0	N/A
Other	Sub	166	GGGGGGGGGGG=1.000	GGGGGGGGG=0.000, GGGGGGGGGG=0.000, GGGGGGGGGGGG=0.000, GGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGG=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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
1000Genomes	Global	Study-wide	5008	(G)₁₁=0.7304	delG=0.2696
1000Genomes	African	Sub	1322	(G)₁₁=0.3495	delG=0.6505
1000Genomes	East Asian	Sub	1008	(G)₁₁=0.8363	delG=0.1637
1000Genomes	Europe	Sub	1006	(G)₁₁=0.9046	delG=0.0954
1000Genomes	South Asian	Sub	978	(G)₁₁=0.855	delG=0.145
1000Genomes	American	Sub	694	(G)₁₁=0.875	delG=0.125
Allele Frequency Aggregator	Total	Global	4788	(G)₁₁=1.0000	delGG=0.0000, delG=0.0000, dupG=0.0000, dupGG=0.0000, dupGGG=0.0000
Allele Frequency Aggregator	European	Sub	3462	(G)₁₁=1.0000	delGG=0.0000, delG=0.0000, dupG=0.0000, dupGG=0.0000, dupGGG=0.0000
Allele Frequency Aggregator	African	Sub	696	(G)₁₁=1.000	delGG=0.000, delG=0.000, dupG=0.000, dupGG=0.000, dupGGG=0.000
Allele Frequency Aggregator	Latin American 2	Sub	318	(G)₁₁=1.000	delGG=0.000, delG=0.000, dupG=0.000, dupGG=0.000, dupGGG=0.000
Allele Frequency Aggregator	Other	Sub	166	(G)₁₁=1.000	delGG=0.000, delG=0.000, dupG=0.000, dupGG=0.000, dupGGG=0.000
Allele Frequency Aggregator	Latin American 1	Sub	62	(G)₁₁=1.00	delGG=0.00, delG=0.00, dupG=0.00, dupGG=0.00, dupGGG=0.00
Allele Frequency Aggregator	South Asian	Sub	44	(G)₁₁=1.00	delGG=0.00, delG=0.00, dupG=0.00, dupGG=0.00, dupGGG=0.00
Allele Frequency Aggregator	Asian	Sub	40	(G)₁₁=1.00	delGG=0.00, delG=0.00, dupG=0.00, dupGG=0.00, dupGGG=0.00
The Danish reference pan genome	Danish	Study-wide	38	(G)₁₁=0.74	delG=0.26

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.173949139_173949140del
GRCh38.p14 chr 1	NC_000001.11:g.173949140del
GRCh38.p14 chr 1	NC_000001.11:g.173949140dup
GRCh38.p14 chr 1	NC_000001.11:g.173949139_173949140dup
GRCh38.p14 chr 1	NC_000001.11:g.173949138_173949140dup
GRCh38.p14 chr 1	NC_000001.11:g.173949137_173949140dup
GRCh37.p13 chr 1	NC_000001.10:g.173918277_173918278del
GRCh37.p13 chr 1	NC_000001.10:g.173918278del
GRCh37.p13 chr 1	NC_000001.10:g.173918278dup
GRCh37.p13 chr 1	NC_000001.10:g.173918277_173918278dup
GRCh37.p13 chr 1	NC_000001.10:g.173918276_173918278dup
GRCh37.p13 chr 1	NC_000001.10:g.173918275_173918278dup

Gene: RC3H1, ring finger and CCCH-type domains 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
RC3H1 transcript variant 1	NM_001300850.1:c.2524-154… NM_001300850.1:c.2524-1549_2524-1548del	N/A	Intron Variant
RC3H1 transcript variant 3	NM_001300851.1:c.2524-154… NM_001300851.1:c.2524-1549_2524-1548del	N/A	Intron Variant
RC3H1 transcript variant 4	NM_001300852.1:c.2524-154… NM_001300852.1:c.2524-1549_2524-1548del	N/A	Intron Variant
RC3H1 transcript variant 2	NM_172071.4:c.2524-1549_2… NM_172071.4:c.2524-1549_2524-1548del	N/A	Intron Variant
RC3H1 transcript variant X8	XM_005244921.4:c.2461-154… XM_005244921.4:c.2461-1549_2461-1548del	N/A	Intron Variant
RC3H1 transcript variant X1	XM_047447089.1:c.2524-154… XM_047447089.1:c.2524-1549_2524-1548del	N/A	Intron Variant
RC3H1 transcript variant X2	XM_047447090.1:c.2524-154… XM_047447090.1:c.2524-1549_2524-1548del	N/A	Intron Variant
RC3H1 transcript variant X3	XM_047447091.1:c.2524-154… XM_047447091.1:c.2524-1549_2524-1548del	N/A	Intron Variant
RC3H1 transcript variant X4	XM_047447092.1:c.2524-154… XM_047447092.1:c.2524-1549_2524-1548del	N/A	Intron Variant
RC3H1 transcript variant X5	XM_047447093.1:c.2524-154… XM_047447093.1:c.2524-1549_2524-1548del	N/A	Intron Variant
RC3H1 transcript variant X6	XM_047447094.1:c.2524-154… XM_047447094.1:c.2524-1549_2524-1548del	N/A	Intron Variant
RC3H1 transcript variant X7	XM_047447095.1:c.2524-154… XM_047447095.1:c.2524-1549_2524-1548del	N/A	Intron Variant
RC3H1 transcript variant X9	XM_047447096.1:c.2461-154… XM_047447096.1:c.2461-1549_2461-1548del	N/A	Intron Variant
RC3H1 transcript variant X10	XM_047447097.1:c.2461-154… XM_047447097.1:c.2461-1549_2461-1548del	N/A	Intron Variant
RC3H1 transcript variant X11	XM_047447101.1:c.2461-154… XM_047447101.1:c.2461-1549_2461-1548del	N/A	Intron Variant
RC3H1 transcript variant X12	XM_047447102.1:c.2461-154… XM_047447102.1:c.2461-1549_2461-1548del	N/A	Intron Variant
RC3H1 transcript variant X13	XM_047447103.1:c.2524-154… XM_047447103.1:c.2524-1549_2524-1548del	N/A	Intron Variant
RC3H1 transcript variant X14	XM_047447104.1:c.2524-154… XM_047447104.1:c.2524-1549_2524-1548del	N/A	Intron Variant
RC3H1 transcript variant X15	XM_047447105.1:c.2524-154… XM_047447105.1:c.2524-1549_2524-1548del	N/A	Intron Variant
RC3H1 transcript variant X16	XM_047447106.1:c.2461-154… XM_047447106.1:c.2461-1549_2461-1548del	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	(G)₁₁=	delGG	delG	dupG	dupGG	dupGGG	dup(G)₄
GRCh38.p14 chr 1	NC_000001.11:g.173949130_173949140=	NC_000001.11:g.173949139_173949140del	NC_000001.11:g.173949140del	NC_000001.11:g.173949140dup	NC_000001.11:g.173949139_173949140dup	NC_000001.11:g.173949138_173949140dup	NC_000001.11:g.173949137_173949140dup
GRCh37.p13 chr 1	NC_000001.10:g.173918268_173918278=	NC_000001.10:g.173918277_173918278del	NC_000001.10:g.173918278del	NC_000001.10:g.173918278dup	NC_000001.10:g.173918277_173918278dup	NC_000001.10:g.173918276_173918278dup	NC_000001.10:g.173918275_173918278dup
RC3H1 transcript variant 1	NM_001300850.1:c.2524-1548=	NM_001300850.1:c.2524-1549_2524-1548del	NM_001300850.1:c.2524-1548del	NM_001300850.1:c.2524-1548dup	NM_001300850.1:c.2524-1549_2524-1548dup	NM_001300850.1:c.2524-1550_2524-1548dup	NM_001300850.1:c.2524-1551_2524-1548dup
RC3H1 transcript variant 3	NM_001300851.1:c.2524-1548=	NM_001300851.1:c.2524-1549_2524-1548del	NM_001300851.1:c.2524-1548del	NM_001300851.1:c.2524-1548dup	NM_001300851.1:c.2524-1549_2524-1548dup	NM_001300851.1:c.2524-1550_2524-1548dup	NM_001300851.1:c.2524-1551_2524-1548dup
RC3H1 transcript variant 4	NM_001300852.1:c.2524-1548=	NM_001300852.1:c.2524-1549_2524-1548del	NM_001300852.1:c.2524-1548del	NM_001300852.1:c.2524-1548dup	NM_001300852.1:c.2524-1549_2524-1548dup	NM_001300852.1:c.2524-1550_2524-1548dup	NM_001300852.1:c.2524-1551_2524-1548dup
RC3H1 transcript	NM_172071.2:c.2524-1548=	NM_172071.2:c.2524-1549_2524-1548del	NM_172071.2:c.2524-1548del	NM_172071.2:c.2524-1548dup	NM_172071.2:c.2524-1549_2524-1548dup	NM_172071.2:c.2524-1550_2524-1548dup	NM_172071.2:c.2524-1551_2524-1548dup
RC3H1 transcript variant 2	NM_172071.4:c.2524-1548=	NM_172071.4:c.2524-1549_2524-1548del	NM_172071.4:c.2524-1548del	NM_172071.4:c.2524-1548dup	NM_172071.4:c.2524-1549_2524-1548dup	NM_172071.4:c.2524-1550_2524-1548dup	NM_172071.4:c.2524-1551_2524-1548dup
RC3H1 transcript variant X1	XM_005244918.1:c.2524-1548=	XM_005244918.1:c.2524-1549_2524-1548del	XM_005244918.1:c.2524-1548del	XM_005244918.1:c.2524-1548dup	XM_005244918.1:c.2524-1549_2524-1548dup	XM_005244918.1:c.2524-1550_2524-1548dup	XM_005244918.1:c.2524-1551_2524-1548dup
RC3H1 transcript variant X2	XM_005244919.1:c.2524-1548=	XM_005244919.1:c.2524-1549_2524-1548del	XM_005244919.1:c.2524-1548del	XM_005244919.1:c.2524-1548dup	XM_005244919.1:c.2524-1549_2524-1548dup	XM_005244919.1:c.2524-1550_2524-1548dup	XM_005244919.1:c.2524-1551_2524-1548dup
RC3H1 transcript variant X3	XM_005244920.1:c.2524-1548=	XM_005244920.1:c.2524-1549_2524-1548del	XM_005244920.1:c.2524-1548del	XM_005244920.1:c.2524-1548dup	XM_005244920.1:c.2524-1549_2524-1548dup	XM_005244920.1:c.2524-1550_2524-1548dup	XM_005244920.1:c.2524-1551_2524-1548dup
RC3H1 transcript variant X4	XM_005244921.1:c.2461-1548=	XM_005244921.1:c.2461-1549_2461-1548del	XM_005244921.1:c.2461-1548del	XM_005244921.1:c.2461-1548dup	XM_005244921.1:c.2461-1549_2461-1548dup	XM_005244921.1:c.2461-1550_2461-1548dup	XM_005244921.1:c.2461-1551_2461-1548dup
RC3H1 transcript variant X8	XM_005244921.4:c.2461-1548=	XM_005244921.4:c.2461-1549_2461-1548del	XM_005244921.4:c.2461-1548del	XM_005244921.4:c.2461-1548dup	XM_005244921.4:c.2461-1549_2461-1548dup	XM_005244921.4:c.2461-1550_2461-1548dup	XM_005244921.4:c.2461-1551_2461-1548dup
RC3H1 transcript variant X1	XM_047447089.1:c.2524-1548=	XM_047447089.1:c.2524-1549_2524-1548del	XM_047447089.1:c.2524-1548del	XM_047447089.1:c.2524-1548dup	XM_047447089.1:c.2524-1549_2524-1548dup	XM_047447089.1:c.2524-1550_2524-1548dup	XM_047447089.1:c.2524-1551_2524-1548dup
RC3H1 transcript variant X2	XM_047447090.1:c.2524-1548=	XM_047447090.1:c.2524-1549_2524-1548del	XM_047447090.1:c.2524-1548del	XM_047447090.1:c.2524-1548dup	XM_047447090.1:c.2524-1549_2524-1548dup	XM_047447090.1:c.2524-1550_2524-1548dup	XM_047447090.1:c.2524-1551_2524-1548dup
RC3H1 transcript variant X3	XM_047447091.1:c.2524-1548=	XM_047447091.1:c.2524-1549_2524-1548del	XM_047447091.1:c.2524-1548del	XM_047447091.1:c.2524-1548dup	XM_047447091.1:c.2524-1549_2524-1548dup	XM_047447091.1:c.2524-1550_2524-1548dup	XM_047447091.1:c.2524-1551_2524-1548dup
RC3H1 transcript variant X4	XM_047447092.1:c.2524-1548=	XM_047447092.1:c.2524-1549_2524-1548del	XM_047447092.1:c.2524-1548del	XM_047447092.1:c.2524-1548dup	XM_047447092.1:c.2524-1549_2524-1548dup	XM_047447092.1:c.2524-1550_2524-1548dup	XM_047447092.1:c.2524-1551_2524-1548dup
RC3H1 transcript variant X5	XM_047447093.1:c.2524-1548=	XM_047447093.1:c.2524-1549_2524-1548del	XM_047447093.1:c.2524-1548del	XM_047447093.1:c.2524-1548dup	XM_047447093.1:c.2524-1549_2524-1548dup	XM_047447093.1:c.2524-1550_2524-1548dup	XM_047447093.1:c.2524-1551_2524-1548dup
RC3H1 transcript variant X6	XM_047447094.1:c.2524-1548=	XM_047447094.1:c.2524-1549_2524-1548del	XM_047447094.1:c.2524-1548del	XM_047447094.1:c.2524-1548dup	XM_047447094.1:c.2524-1549_2524-1548dup	XM_047447094.1:c.2524-1550_2524-1548dup	XM_047447094.1:c.2524-1551_2524-1548dup
RC3H1 transcript variant X7	XM_047447095.1:c.2524-1548=	XM_047447095.1:c.2524-1549_2524-1548del	XM_047447095.1:c.2524-1548del	XM_047447095.1:c.2524-1548dup	XM_047447095.1:c.2524-1549_2524-1548dup	XM_047447095.1:c.2524-1550_2524-1548dup	XM_047447095.1:c.2524-1551_2524-1548dup
RC3H1 transcript variant X9	XM_047447096.1:c.2461-1548=	XM_047447096.1:c.2461-1549_2461-1548del	XM_047447096.1:c.2461-1548del	XM_047447096.1:c.2461-1548dup	XM_047447096.1:c.2461-1549_2461-1548dup	XM_047447096.1:c.2461-1550_2461-1548dup	XM_047447096.1:c.2461-1551_2461-1548dup
RC3H1 transcript variant X10	XM_047447097.1:c.2461-1548=	XM_047447097.1:c.2461-1549_2461-1548del	XM_047447097.1:c.2461-1548del	XM_047447097.1:c.2461-1548dup	XM_047447097.1:c.2461-1549_2461-1548dup	XM_047447097.1:c.2461-1550_2461-1548dup	XM_047447097.1:c.2461-1551_2461-1548dup
RC3H1 transcript variant X11	XM_047447101.1:c.2461-1548=	XM_047447101.1:c.2461-1549_2461-1548del	XM_047447101.1:c.2461-1548del	XM_047447101.1:c.2461-1548dup	XM_047447101.1:c.2461-1549_2461-1548dup	XM_047447101.1:c.2461-1550_2461-1548dup	XM_047447101.1:c.2461-1551_2461-1548dup
RC3H1 transcript variant X12	XM_047447102.1:c.2461-1548=	XM_047447102.1:c.2461-1549_2461-1548del	XM_047447102.1:c.2461-1548del	XM_047447102.1:c.2461-1548dup	XM_047447102.1:c.2461-1549_2461-1548dup	XM_047447102.1:c.2461-1550_2461-1548dup	XM_047447102.1:c.2461-1551_2461-1548dup
RC3H1 transcript variant X13	XM_047447103.1:c.2524-1548=	XM_047447103.1:c.2524-1549_2524-1548del	XM_047447103.1:c.2524-1548del	XM_047447103.1:c.2524-1548dup	XM_047447103.1:c.2524-1549_2524-1548dup	XM_047447103.1:c.2524-1550_2524-1548dup	XM_047447103.1:c.2524-1551_2524-1548dup
RC3H1 transcript variant X14	XM_047447104.1:c.2524-1548=	XM_047447104.1:c.2524-1549_2524-1548del	XM_047447104.1:c.2524-1548del	XM_047447104.1:c.2524-1548dup	XM_047447104.1:c.2524-1549_2524-1548dup	XM_047447104.1:c.2524-1550_2524-1548dup	XM_047447104.1:c.2524-1551_2524-1548dup
RC3H1 transcript variant X15	XM_047447105.1:c.2524-1548=	XM_047447105.1:c.2524-1549_2524-1548del	XM_047447105.1:c.2524-1548del	XM_047447105.1:c.2524-1548dup	XM_047447105.1:c.2524-1549_2524-1548dup	XM_047447105.1:c.2524-1550_2524-1548dup	XM_047447105.1:c.2524-1551_2524-1548dup
RC3H1 transcript variant X16	XM_047447106.1:c.2461-1548=	XM_047447106.1:c.2461-1549_2461-1548del	XM_047447106.1:c.2461-1548del	XM_047447106.1:c.2461-1548dup	XM_047447106.1:c.2461-1549_2461-1548dup	XM_047447106.1:c.2461-1550_2461-1548dup	XM_047447106.1:c.2461-1551_2461-1548dup

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#.

41 SubSNP, 22 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss41293242	Mar 14, 2006 (126)
2	HGSV	ss80398138	Sep 08, 2015 (146)
3	SSMP	ss663133098	Apr 01, 2015 (144)
4	1000GENOMES	ss1367898293	Aug 21, 2014 (142)
5	EVA_GENOME_DK	ss1574051119	Apr 01, 2015 (144)
6	EVA_UK10K_ALSPAC	ss1701414031	Apr 01, 2015 (144)
7	EVA_UK10K_TWINSUK	ss1701414032	Apr 01, 2015 (144)
8	EVA_UK10K_TWINSUK	ss1709957056	Oct 11, 2018 (152)
9	EVA_UK10K_ALSPAC	ss1709957063	Oct 11, 2018 (152)
10	MCHAISSO	ss3065335394	Nov 08, 2017 (151)
11	EVA_DECODE	ss3688045063	Jul 12, 2019 (153)
12	EVA_DECODE	ss3688045064	Jul 12, 2019 (153)
13	EVA_DECODE	ss3688045065	Jul 12, 2019 (153)
14	EVA_DECODE	ss3688045066	Jul 12, 2019 (153)
15	PACBIO	ss3783606297	Jul 12, 2019 (153)
16	PACBIO	ss3789231556	Jul 12, 2019 (153)
17	PACBIO	ss3794103613	Jul 12, 2019 (153)
18	KHV_HUMAN_GENOMES	ss3799975741	Jul 12, 2019 (153)
19	EVA	ss3826495704	Apr 25, 2020 (154)
20	GNOMAD	ss4006047948	Apr 25, 2021 (155)
21	GNOMAD	ss4006047949	Apr 25, 2021 (155)
22	GNOMAD	ss4006047950	Apr 25, 2021 (155)
23	GNOMAD	ss4006047951	Apr 25, 2021 (155)
24	GNOMAD	ss4006047952	Apr 25, 2021 (155)
25	TOMMO_GENOMICS	ss5147088822	Apr 25, 2021 (155)
26	TOMMO_GENOMICS	ss5147088823	Apr 25, 2021 (155)
27	TOMMO_GENOMICS	ss5147088824	Apr 25, 2021 (155)
28	TOMMO_GENOMICS	ss5147088825	Apr 25, 2021 (155)
29	TOMMO_GENOMICS	ss5147088826	Apr 25, 2021 (155)
30	HUGCELL_USP	ss5445300212	Oct 12, 2022 (156)
31	HUGCELL_USP	ss5445300214	Oct 12, 2022 (156)
32	HUGCELL_USP	ss5445300215	Oct 12, 2022 (156)
33	HUGCELL_USP	ss5445300216	Oct 12, 2022 (156)
34	TOMMO_GENOMICS	ss5674462160	Oct 12, 2022 (156)
35	TOMMO_GENOMICS	ss5674462161	Oct 12, 2022 (156)
36	TOMMO_GENOMICS	ss5674462162	Oct 12, 2022 (156)
37	TOMMO_GENOMICS	ss5674462163	Oct 12, 2022 (156)
38	TOMMO_GENOMICS	ss5674462165	Oct 12, 2022 (156)
39	EVA	ss5832851926	Oct 12, 2022 (156)
40	EVA	ss5832851927	Oct 12, 2022 (156)
41	EVA	ss5910782181	Oct 12, 2022 (156)
42	1000Genomes	NC_000001.10 - 173918268	Oct 11, 2018 (152)
43	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 2338616 (NC_000001.10:173918267:G: 588/3854) Row 2338617 (NC_000001.10:173918267::GG 71/3854)	-	Oct 11, 2018 (152)
44	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 2338616 (NC_000001.10:173918267:G: 588/3854) Row 2338617 (NC_000001.10:173918267::GG 71/3854)	-	Oct 11, 2018 (152)
45	The Danish reference pan genome	NC_000001.10 - 173918268	Apr 25, 2020 (154)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 30920460 (NC_000001.11:173949129::G 9228/71184) Row 30920461 (NC_000001.11:173949129::GG 228/71590) Row 30920462 (NC_000001.11:173949129::GGG 443/71498)...	-	Apr 25, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 30920460 (NC_000001.11:173949129::G 9228/71184) Row 30920461 (NC_000001.11:173949129::GG 228/71590) Row 30920462 (NC_000001.11:173949129::GGG 443/71498)...	-	Apr 25, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 30920460 (NC_000001.11:173949129::G 9228/71184) Row 30920461 (NC_000001.11:173949129::GG 228/71590) Row 30920462 (NC_000001.11:173949129::GGG 443/71498)...	-	Apr 25, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 30920460 (NC_000001.11:173949129::G 9228/71184) Row 30920461 (NC_000001.11:173949129::GG 228/71590) Row 30920462 (NC_000001.11:173949129::GGG 443/71498)...	-	Apr 25, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 30920460 (NC_000001.11:173949129::G 9228/71184) Row 30920461 (NC_000001.11:173949129::GG 228/71590) Row 30920462 (NC_000001.11:173949129::GGG 443/71498)...	-	Apr 25, 2021 (155)
51	8.3KJPN Submission ignored due to conflicting rows: Row 5058129 (NC_000001.10:173918267::G 1479/15180) Row 5058130 (NC_000001.10:173918267:G: 2949/15180) Row 5058131 (NC_000001.10:173918267::GG 187/15180)...	-	Apr 25, 2021 (155)
52	8.3KJPN Submission ignored due to conflicting rows: Row 5058129 (NC_000001.10:173918267::G 1479/15180) Row 5058130 (NC_000001.10:173918267:G: 2949/15180) Row 5058131 (NC_000001.10:173918267::GG 187/15180)...	-	Apr 25, 2021 (155)
53	8.3KJPN Submission ignored due to conflicting rows: Row 5058129 (NC_000001.10:173918267::G 1479/15180) Row 5058130 (NC_000001.10:173918267:G: 2949/15180) Row 5058131 (NC_000001.10:173918267::GG 187/15180)...	-	Apr 25, 2021 (155)
54	8.3KJPN Submission ignored due to conflicting rows: Row 5058129 (NC_000001.10:173918267::G 1479/15180) Row 5058130 (NC_000001.10:173918267:G: 2949/15180) Row 5058131 (NC_000001.10:173918267::GG 187/15180)...	-	Apr 25, 2021 (155)
55	8.3KJPN Submission ignored due to conflicting rows: Row 5058129 (NC_000001.10:173918267::G 1479/15180) Row 5058130 (NC_000001.10:173918267:G: 2949/15180) Row 5058131 (NC_000001.10:173918267::GG 187/15180)...	-	Apr 25, 2021 (155)
56	14KJPN Submission ignored due to conflicting rows: Row 8299264 (NC_000001.11:173949129:G: 5096/26406) Row 8299265 (NC_000001.11:173949129::G 2918/26406) Row 8299266 (NC_000001.11:173949129::GG 362/26406)...	-	Oct 12, 2022 (156)
57	14KJPN Submission ignored due to conflicting rows: Row 8299264 (NC_000001.11:173949129:G: 5096/26406) Row 8299265 (NC_000001.11:173949129::G 2918/26406) Row 8299266 (NC_000001.11:173949129::GG 362/26406)...	-	Oct 12, 2022 (156)
58	14KJPN Submission ignored due to conflicting rows: Row 8299264 (NC_000001.11:173949129:G: 5096/26406) Row 8299265 (NC_000001.11:173949129::G 2918/26406) Row 8299266 (NC_000001.11:173949129::GG 362/26406)...	-	Oct 12, 2022 (156)
59	14KJPN Submission ignored due to conflicting rows: Row 8299264 (NC_000001.11:173949129:G: 5096/26406) Row 8299265 (NC_000001.11:173949129::G 2918/26406) Row 8299266 (NC_000001.11:173949129::GG 362/26406)...	-	Oct 12, 2022 (156)
60	14KJPN Submission ignored due to conflicting rows: Row 8299264 (NC_000001.11:173949129:G: 5096/26406) Row 8299265 (NC_000001.11:173949129::G 2918/26406) Row 8299266 (NC_000001.11:173949129::GG 362/26406)...	-	Oct 12, 2022 (156)
61	UK 10K study - Twins Submission ignored due to conflicting rows: Row 2338616 (NC_000001.10:173918267:G: 524/3708) Row 2338617 (NC_000001.10:173918267::GG 33/3708)	-	Oct 11, 2018 (152)
62	UK 10K study - Twins Submission ignored due to conflicting rows: Row 2338616 (NC_000001.10:173918267:G: 524/3708) Row 2338617 (NC_000001.10:173918267::GG 33/3708)	-	Oct 11, 2018 (152)
63	ALFA	NC_000001.11 - 173949130	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).

Associated ID	History Updated (Build)
rs72420083	May 11, 2012 (137)
rs376409808	May 13, 2013 (138)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss5147088825	NC_000001.10:173918267:GG:	NC_000001.11:173949129:GGGGGGGGGGG… NC_000001.11:173949129:GGGGGGGGGGG:GGGGGGGGG	(self)
ss3688045066, ss4006047952, ss5674462163	NC_000001.11:173949129:GG:	NC_000001.11:173949129:GGGGGGGGGGG… NC_000001.11:173949129:GGGGGGGGGGG:GGGGGGGGG	(self)
2629031264	NC_000001.11:173949129:GGGGGGGGGGG… NC_000001.11:173949129:GGGGGGGGGGG:GGGGGGGGG	NC_000001.11:173949129:GGGGGGGGGGG… NC_000001.11:173949129:GGGGGGGGGGG:GGGGGGGGG	(self)
ss80398138	NC_000001.8:170649934:G:	NC_000001.11:173949129:GGGGGGGGGGG… NC_000001.11:173949129:GGGGGGGGGGG:GGGGGGGGGG	(self)
4276129, 181549, ss663133098, ss1367898293, ss1574051119, ss1701414031, ss1701414032, ss3826495704, ss5147088823, ss5832851926	NC_000001.10:173918267:G:	NC_000001.11:173949129:GGGGGGGGGGG… NC_000001.11:173949129:GGGGGGGGGGG:GGGGGGGGGG	(self)
ss3065335394, ss3799975741, ss5445300212, ss5674462160, ss5910782181	NC_000001.11:173949129:G:	NC_000001.11:173949129:GGGGGGGGGGG… NC_000001.11:173949129:GGGGGGGGGGG:GGGGGGGGGG	(self)
2629031264	NC_000001.11:173949129:GGGGGGGGGGG… NC_000001.11:173949129:GGGGGGGGGGG:GGGGGGGGGG	NC_000001.11:173949129:GGGGGGGGGGG… NC_000001.11:173949129:GGGGGGGGGGG:GGGGGGGGGG	(self)
ss3688045065	NC_000001.11:173949130:G:	NC_000001.11:173949129:GGGGGGGGGGG… NC_000001.11:173949129:GGGGGGGGGGG:GGGGGGGGGG	(self)
ss3783606297, ss3789231556, ss3794103613, ss5147088822	NC_000001.10:173918267::G	NC_000001.11:173949129:GGGGGGGGGGG… NC_000001.11:173949129:GGGGGGGGGGG:GGGGGGGGGGGG	(self)
ss4006047948, ss5445300214, ss5674462161	NC_000001.11:173949129::G	NC_000001.11:173949129:GGGGGGGGGGG… NC_000001.11:173949129:GGGGGGGGGGG:GGGGGGGGGGGG	(self)
2629031264	NC_000001.11:173949129:GGGGGGGGGGG… NC_000001.11:173949129:GGGGGGGGGGG:GGGGGGGGGGGG	NC_000001.11:173949129:GGGGGGGGGGG… NC_000001.11:173949129:GGGGGGGGGGG:GGGGGGGGGGGG	(self)
ss3688045064	NC_000001.11:173949131::G	NC_000001.11:173949129:GGGGGGGGGGG… NC_000001.11:173949129:GGGGGGGGGGG:GGGGGGGGGGGG	(self)
ss41293242	NT_004487.19:25406909::G	NC_000001.11:173949129:GGGGGGGGGGG… NC_000001.11:173949129:GGGGGGGGGGG:GGGGGGGGGGGG	(self)
ss5147088824, ss5832851927	NC_000001.10:173918267::GG	NC_000001.11:173949129:GGGGGGGGGGG… NC_000001.11:173949129:GGGGGGGGGGG:GGGGGGGGGGGGG	(self)
ss1709957056, ss1709957063	NC_000001.10:173918268::GG	NC_000001.11:173949129:GGGGGGGGGGG… NC_000001.11:173949129:GGGGGGGGGGG:GGGGGGGGGGGGG	(self)
ss4006047949, ss5445300215, ss5674462162	NC_000001.11:173949129::GG	NC_000001.11:173949129:GGGGGGGGGGG… NC_000001.11:173949129:GGGGGGGGGGG:GGGGGGGGGGGGG	(self)
2629031264	NC_000001.11:173949129:GGGGGGGGGGG… NC_000001.11:173949129:GGGGGGGGGGG:GGGGGGGGGGGGG	NC_000001.11:173949129:GGGGGGGGGGG… NC_000001.11:173949129:GGGGGGGGGGG:GGGGGGGGGGGGG	(self)
ss3688045063	NC_000001.11:173949131::GG	NC_000001.11:173949129:GGGGGGGGGGG… NC_000001.11:173949129:GGGGGGGGGGG:GGGGGGGGGGGGG	(self)
ss5147088826	NC_000001.10:173918267::GGG	NC_000001.11:173949129:GGGGGGGGGGG… NC_000001.11:173949129:GGGGGGGGGGG:GGGGGGGGGGGGGG	(self)
ss4006047950, ss5445300216, ss5674462165	NC_000001.11:173949129::GGG	NC_000001.11:173949129:GGGGGGGGGGG… NC_000001.11:173949129:GGGGGGGGGGG:GGGGGGGGGGGGGG	(self)
2629031264	NC_000001.11:173949129:GGGGGGGGGGG… NC_000001.11:173949129:GGGGGGGGGGG:GGGGGGGGGGGGGG	NC_000001.11:173949129:GGGGGGGGGGG… NC_000001.11:173949129:GGGGGGGGGGG:GGGGGGGGGGGGGG	(self)
ss4006047951	NC_000001.11:173949129::GGGG	NC_000001.11:173949129:GGGGGGGGGGG… NC_000001.11:173949129:GGGGGGGGGGG:GGGGGGGGGGGGGGG	(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 rs34983635

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

rs34983635