Name: rs1553479692
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.

rs1553479692

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:96806536-96806554 (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(GC)₅ / del(GC)₄ / del(GC)₃ / d…
del(GC)₅ / del(GC)₄ / del(GC)₃ / delGCGC / delGC / dupGC / dupGCGC / dup(GC)₃ / dup(GC)₄ / dup(GC)₅ / dup(GC)₆ / dup(GC)₇
Variation Type: Indel Insertion and Deletion
Frequency: dupGC=0.00692 (97/14020, ALFA)
dupGC=0.1344 (518/3854, ALSPAC)
dupGC=0.1319 (489/3708, TWINSUK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CNNM4 : 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	14020	CGCGCGCGCGCGCGCGCGC=0.98695	CGCGCGCGC=0.00000, CGCGCGCGCGC=0.00000, CGCGCGCGCGCGC=0.00250, CGCGCGCGCGCGCGC=0.00000, CGCGCGCGCGCGCGCGC=0.00000, CGCGCGCGCGCGCGCGCGCGC=0.00692, CGCGCGCGCGCGCGCGCGCGCGC=0.00364, CGCGCGCGCGCGCGCGCGCGCGCGC=0.00000, CGCGCGCGCGCGCGCGCGCGCGCGCGC=0.00000, CGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.00000, CGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.00000	0.98896	0.000746	0.010294	32
European	Sub	10545	CGCGCGCGCGCGCGCGCGC=0.98265	CGCGCGCGC=0.00000, CGCGCGCGCGC=0.00000, CGCGCGCGCGCGC=0.00332, CGCGCGCGCGCGCGC=0.00000, CGCGCGCGCGCGCGCGC=0.00000, CGCGCGCGCGCGCGCGCGCGC=0.00920, CGCGCGCGCGCGCGCGCGCGCGC=0.00484, CGCGCGCGCGCGCGCGCGCGCGCGC=0.00000, CGCGCGCGCGCGCGCGCGCGCGCGCGC=0.00000, CGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.00000, CGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.00000	0.985099	0.001007	0.013894	32
African	Sub	2226	CGCGCGCGCGCGCGCGCGC=1.0000	CGCGCGCGC=0.0000, CGCGCGCGCGC=0.0000, CGCGCGCGCGCGC=0.0000, CGCGCGCGCGCGCGC=0.0000, CGCGCGCGCGCGCGCGC=0.0000, CGCGCGCGCGCGCGCGCGCGC=0.0000, CGCGCGCGCGCGCGCGCGCGCGC=0.0000, CGCGCGCGCGCGCGCGCGCGCGCGC=0.0000, CGCGCGCGCGCGCGCGCGCGCGCGCGC=0.0000, CGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.0000, CGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	84	CGCGCGCGCGCGCGCGCGC=1.00	CGCGCGCGC=0.00, CGCGCGCGCGC=0.00, CGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.00	1.0	0.0	0.0	N/A
African American	Sub	2142	CGCGCGCGCGCGCGCGCGC=1.0000	CGCGCGCGC=0.0000, CGCGCGCGCGC=0.0000, CGCGCGCGCGCGC=0.0000, CGCGCGCGCGCGCGC=0.0000, CGCGCGCGCGCGCGCGC=0.0000, CGCGCGCGCGCGCGCGCGCGC=0.0000, CGCGCGCGCGCGCGCGCGCGCGC=0.0000, CGCGCGCGCGCGCGCGCGCGCGCGC=0.0000, CGCGCGCGCGCGCGCGCGCGCGCGCGC=0.0000, CGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.0000, CGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	92	CGCGCGCGCGCGCGCGCGC=1.00	CGCGCGCGC=0.00, CGCGCGCGCGC=0.00, CGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	72	CGCGCGCGCGCGCGCGCGC=1.00	CGCGCGCGC=0.00, CGCGCGCGCGC=0.00, CGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	20	CGCGCGCGCGCGCGCGCGC=1.00	CGCGCGCGC=0.00, CGCGCGCGCGC=0.00, CGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	132	CGCGCGCGCGCGCGCGCGC=1.000	CGCGCGCGC=0.000, CGCGCGCGCGC=0.000, CGCGCGCGCGCGC=0.000, CGCGCGCGCGCGCGC=0.000, CGCGCGCGCGCGCGCGC=0.000, CGCGCGCGCGCGCGCGCGCGC=0.000, CGCGCGCGCGCGCGCGCGCGCGC=0.000, CGCGCGCGCGCGCGCGCGCGCGCGC=0.000, CGCGCGCGCGCGCGCGCGCGCGCGCGC=0.000, CGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.000, CGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.000	1.0	0.0	0.0	N/A
Latin American 2	Sub	560	CGCGCGCGCGCGCGCGCGC=1.000	CGCGCGCGC=0.000, CGCGCGCGCGC=0.000, CGCGCGCGCGCGC=0.000, CGCGCGCGCGCGCGC=0.000, CGCGCGCGCGCGCGCGC=0.000, CGCGCGCGCGCGCGCGCGCGC=0.000, CGCGCGCGCGCGCGCGCGCGCGC=0.000, CGCGCGCGCGCGCGCGCGCGCGCGC=0.000, CGCGCGCGCGCGCGCGCGCGCGCGCGC=0.000, CGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.000, CGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	82	CGCGCGCGCGCGCGCGCGC=1.00	CGCGCGCGC=0.00, CGCGCGCGCGC=0.00, CGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.00, CGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.00	1.0	0.0	0.0	N/A
Other	Sub	383	CGCGCGCGCGCGCGCGCGC=1.000	CGCGCGCGC=0.000, CGCGCGCGCGC=0.000, CGCGCGCGCGCGC=0.000, CGCGCGCGCGCGCGC=0.000, CGCGCGCGCGCGCGCGC=0.000, CGCGCGCGCGCGCGCGCGCGC=0.000, CGCGCGCGCGCGCGCGCGCGCGC=0.000, CGCGCGCGCGCGCGCGCGCGCGCGC=0.000, CGCGCGCGCGCGCGCGCGCGCGCGCGC=0.000, CGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.000, CGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC=0.000	1.0	0.0	0.0	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
Allele Frequency Aggregator	Total	Global	14020	(CG)₉C=0.98695	del(GC)₅=0.00000, del(GC)₄=0.00000, del(GC)₃=0.00250, delGCGC=0.00000, delGC=0.00000, dupGC=0.00692, dupGCGC=0.00364, dup(GC)₃=0.00000, dup(GC)₄=0.00000, dup(GC)₅=0.00000, dup(GC)₆=0.00000
Allele Frequency Aggregator	European	Sub	10545	(CG)₉C=0.98265	del(GC)₅=0.00000, del(GC)₄=0.00000, del(GC)₃=0.00332, delGCGC=0.00000, delGC=0.00000, dupGC=0.00920, dupGCGC=0.00484, dup(GC)₃=0.00000, dup(GC)₄=0.00000, dup(GC)₅=0.00000, dup(GC)₆=0.00000
Allele Frequency Aggregator	African	Sub	2226	(CG)₉C=1.0000	del(GC)₅=0.0000, del(GC)₄=0.0000, del(GC)₃=0.0000, delGCGC=0.0000, delGC=0.0000, dupGC=0.0000, dupGCGC=0.0000, dup(GC)₃=0.0000, dup(GC)₄=0.0000, dup(GC)₅=0.0000, dup(GC)₆=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	560	(CG)₉C=1.000	del(GC)₅=0.000, del(GC)₄=0.000, del(GC)₃=0.000, delGCGC=0.000, delGC=0.000, dupGC=0.000, dupGCGC=0.000, dup(GC)₃=0.000, dup(GC)₄=0.000, dup(GC)₅=0.000, dup(GC)₆=0.000
Allele Frequency Aggregator	Other	Sub	383	(CG)₉C=1.000	del(GC)₅=0.000, del(GC)₄=0.000, del(GC)₃=0.000, delGCGC=0.000, delGC=0.000, dupGC=0.000, dupGCGC=0.000, dup(GC)₃=0.000, dup(GC)₄=0.000, dup(GC)₅=0.000, dup(GC)₆=0.000
Allele Frequency Aggregator	Latin American 1	Sub	132	(CG)₉C=1.000	del(GC)₅=0.000, del(GC)₄=0.000, del(GC)₃=0.000, delGCGC=0.000, delGC=0.000, dupGC=0.000, dupGCGC=0.000, dup(GC)₃=0.000, dup(GC)₄=0.000, dup(GC)₅=0.000, dup(GC)₆=0.000
Allele Frequency Aggregator	Asian	Sub	92	(CG)₉C=1.00	del(GC)₅=0.00, del(GC)₄=0.00, del(GC)₃=0.00, delGCGC=0.00, delGC=0.00, dupGC=0.00, dupGCGC=0.00, dup(GC)₃=0.00, dup(GC)₄=0.00, dup(GC)₅=0.00, dup(GC)₆=0.00
Allele Frequency Aggregator	South Asian	Sub	82	(CG)₉C=1.00	del(GC)₅=0.00, del(GC)₄=0.00, del(GC)₃=0.00, delGCGC=0.00, delGC=0.00, dupGC=0.00, dupGCGC=0.00, dup(GC)₃=0.00, dup(GC)₄=0.00, dup(GC)₅=0.00, dup(GC)₆=0.00
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	- No frequency provided	dupGC=0.1344
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	- No frequency provided	dupGC=0.1319

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.96806537GC[4]
GRCh38.p14 chr 2	NC_000002.12:g.96806537GC[5]
GRCh38.p14 chr 2	NC_000002.12:g.96806537GC[6]
GRCh38.p14 chr 2	NC_000002.12:g.96806537GC[7]
GRCh38.p14 chr 2	NC_000002.12:g.96806537GC[8]
GRCh38.p14 chr 2	NC_000002.12:g.96806537GC[10]
GRCh38.p14 chr 2	NC_000002.12:g.96806537GC[11]
GRCh38.p14 chr 2	NC_000002.12:g.96806537GC[12]
GRCh38.p14 chr 2	NC_000002.12:g.96806537GC[13]
GRCh38.p14 chr 2	NC_000002.12:g.96806537GC[14]
GRCh38.p14 chr 2	NC_000002.12:g.96806537GC[15]
GRCh38.p14 chr 2	NC_000002.12:g.96806537GC[16]
GRCh37.p13 chr 2	NC_000002.11:g.97472274GC[4]
GRCh37.p13 chr 2	NC_000002.11:g.97472274GC[5]
GRCh37.p13 chr 2	NC_000002.11:g.97472274GC[6]
GRCh37.p13 chr 2	NC_000002.11:g.97472274GC[7]
GRCh37.p13 chr 2	NC_000002.11:g.97472274GC[8]
GRCh37.p13 chr 2	NC_000002.11:g.97472274GC[10]
GRCh37.p13 chr 2	NC_000002.11:g.97472274GC[11]
GRCh37.p13 chr 2	NC_000002.11:g.97472274GC[12]
GRCh37.p13 chr 2	NC_000002.11:g.97472274GC[13]
GRCh37.p13 chr 2	NC_000002.11:g.97472274GC[14]
GRCh37.p13 chr 2	NC_000002.11:g.97472274GC[15]
GRCh37.p13 chr 2	NC_000002.11:g.97472274GC[16]
CNNM4 RefSeqGene	NG_016608.1:g.50636GC[4]
CNNM4 RefSeqGene	NG_016608.1:g.50636GC[5]
CNNM4 RefSeqGene	NG_016608.1:g.50636GC[6]
CNNM4 RefSeqGene	NG_016608.1:g.50636GC[7]
CNNM4 RefSeqGene	NG_016608.1:g.50636GC[8]
CNNM4 RefSeqGene	NG_016608.1:g.50636GC[10]
CNNM4 RefSeqGene	NG_016608.1:g.50636GC[11]
CNNM4 RefSeqGene	NG_016608.1:g.50636GC[12]
CNNM4 RefSeqGene	NG_016608.1:g.50636GC[13]
CNNM4 RefSeqGene	NG_016608.1:g.50636GC[14]
CNNM4 RefSeqGene	NG_016608.1:g.50636GC[15]
CNNM4 RefSeqGene	NG_016608.1:g.50636GC[16]

Gene: CNNM4, cyclin and CBS domain divalent metal cation transport mediator 4 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CNNM4 transcript	NM_020184.4:c.1949-2025CG… NM_020184.4:c.1949-2025CG[4]	N/A	Intron Variant
CNNM4 transcript variant X2	XM_005263914.5:c.2012-202… XM_005263914.5:c.2012-2025CG[4]	N/A	Intron Variant
CNNM4 transcript variant X3	XM_005263915.5:c.1949-202… XM_005263915.5:c.1949-2025CG[4]	N/A	Intron Variant
CNNM4 transcript variant X7	XM_017003799.2:c.410-2025… XM_017003799.2:c.410-2025CG[4]	N/A	Intron Variant
CNNM4 transcript variant X1	XM_047443911.1:c.2012-202… XM_047443911.1:c.2012-2025CG[4]	N/A	Intron Variant
CNNM4 transcript variant X4	XM_047443912.1:c.1949-660… XM_047443912.1:c.1949-660CG[4]	N/A	Intron Variant
CNNM4 transcript variant X6	XM_011510956.4:c.	N/A	Genic Downstream Transcript Variant
CNNM4 transcript variant X5	XR_007071513.1: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	(CG)₉C=	del(GC)₅	del(GC)₄	del(GC)₃	delGCGC	delGC	dupGC	dupGCGC	dup(GC)₃	dup(GC)₄	dup(GC)₅	dup(GC)₆	dup(GC)₇
GRCh38.p14 chr 2	NC_000002.12:g.96806536_96806554=	NC_000002.12:g.96806537GC[4]	NC_000002.12:g.96806537GC[5]	NC_000002.12:g.96806537GC[6]	NC_000002.12:g.96806537GC[7]	NC_000002.12:g.96806537GC[8]	NC_000002.12:g.96806537GC[10]	NC_000002.12:g.96806537GC[11]	NC_000002.12:g.96806537GC[12]	NC_000002.12:g.96806537GC[13]	NC_000002.12:g.96806537GC[14]	NC_000002.12:g.96806537GC[15]	NC_000002.12:g.96806537GC[16]
GRCh37.p13 chr 2	NC_000002.11:g.97472273_97472291=	NC_000002.11:g.97472274GC[4]	NC_000002.11:g.97472274GC[5]	NC_000002.11:g.97472274GC[6]	NC_000002.11:g.97472274GC[7]	NC_000002.11:g.97472274GC[8]	NC_000002.11:g.97472274GC[10]	NC_000002.11:g.97472274GC[11]	NC_000002.11:g.97472274GC[12]	NC_000002.11:g.97472274GC[13]	NC_000002.11:g.97472274GC[14]	NC_000002.11:g.97472274GC[15]	NC_000002.11:g.97472274GC[16]
CNNM4 RefSeqGene	NG_016608.1:g.50635_50653=	NG_016608.1:g.50636GC[4]	NG_016608.1:g.50636GC[5]	NG_016608.1:g.50636GC[6]	NG_016608.1:g.50636GC[7]	NG_016608.1:g.50636GC[8]	NG_016608.1:g.50636GC[10]	NG_016608.1:g.50636GC[11]	NG_016608.1:g.50636GC[12]	NG_016608.1:g.50636GC[13]	NG_016608.1:g.50636GC[14]	NG_016608.1:g.50636GC[15]	NG_016608.1:g.50636GC[16]
CNNM4 transcript	NM_020184.3:c.1949-2025=	NM_020184.3:c.1949-2025CG[4]	NM_020184.3:c.1949-2025CG[5]	NM_020184.3:c.1949-2025CG[6]	NM_020184.3:c.1949-2025CG[7]	NM_020184.3:c.1949-2025CG[8]	NM_020184.3:c.1949-2025CG[10]	NM_020184.3:c.1949-2025CG[11]	NM_020184.3:c.1949-2025CG[12]	NM_020184.3:c.1949-2025CG[13]	NM_020184.3:c.1949-2025CG[14]	NM_020184.3:c.1949-2025CG[15]	NM_020184.3:c.1949-2025CG[16]
CNNM4 transcript	NM_020184.4:c.1949-2025=	NM_020184.4:c.1949-2025CG[4]	NM_020184.4:c.1949-2025CG[5]	NM_020184.4:c.1949-2025CG[6]	NM_020184.4:c.1949-2025CG[7]	NM_020184.4:c.1949-2025CG[8]	NM_020184.4:c.1949-2025CG[10]	NM_020184.4:c.1949-2025CG[11]	NM_020184.4:c.1949-2025CG[12]	NM_020184.4:c.1949-2025CG[13]	NM_020184.4:c.1949-2025CG[14]	NM_020184.4:c.1949-2025CG[15]	NM_020184.4:c.1949-2025CG[16]
CNNM4 transcript variant X1	XM_005263914.1:c.2012-2025=	XM_005263914.1:c.2012-2025CG[4]	XM_005263914.1:c.2012-2025CG[5]	XM_005263914.1:c.2012-2025CG[6]	XM_005263914.1:c.2012-2025CG[7]	XM_005263914.1:c.2012-2025CG[8]	XM_005263914.1:c.2012-2025CG[10]	XM_005263914.1:c.2012-2025CG[11]	XM_005263914.1:c.2012-2025CG[12]	XM_005263914.1:c.2012-2025CG[13]	XM_005263914.1:c.2012-2025CG[14]	XM_005263914.1:c.2012-2025CG[15]	XM_005263914.1:c.2012-2025CG[16]
CNNM4 transcript variant X2	XM_005263914.5:c.2012-2025=	XM_005263914.5:c.2012-2025CG[4]	XM_005263914.5:c.2012-2025CG[5]	XM_005263914.5:c.2012-2025CG[6]	XM_005263914.5:c.2012-2025CG[7]	XM_005263914.5:c.2012-2025CG[8]	XM_005263914.5:c.2012-2025CG[10]	XM_005263914.5:c.2012-2025CG[11]	XM_005263914.5:c.2012-2025CG[12]	XM_005263914.5:c.2012-2025CG[13]	XM_005263914.5:c.2012-2025CG[14]	XM_005263914.5:c.2012-2025CG[15]	XM_005263914.5:c.2012-2025CG[16]
CNNM4 transcript variant X2	XM_005263915.1:c.1949-2025=	XM_005263915.1:c.1949-2025CG[4]	XM_005263915.1:c.1949-2025CG[5]	XM_005263915.1:c.1949-2025CG[6]	XM_005263915.1:c.1949-2025CG[7]	XM_005263915.1:c.1949-2025CG[8]	XM_005263915.1:c.1949-2025CG[10]	XM_005263915.1:c.1949-2025CG[11]	XM_005263915.1:c.1949-2025CG[12]	XM_005263915.1:c.1949-2025CG[13]	XM_005263915.1:c.1949-2025CG[14]	XM_005263915.1:c.1949-2025CG[15]	XM_005263915.1:c.1949-2025CG[16]
CNNM4 transcript variant X3	XM_005263915.5:c.1949-2025=	XM_005263915.5:c.1949-2025CG[4]	XM_005263915.5:c.1949-2025CG[5]	XM_005263915.5:c.1949-2025CG[6]	XM_005263915.5:c.1949-2025CG[7]	XM_005263915.5:c.1949-2025CG[8]	XM_005263915.5:c.1949-2025CG[10]	XM_005263915.5:c.1949-2025CG[11]	XM_005263915.5:c.1949-2025CG[12]	XM_005263915.5:c.1949-2025CG[13]	XM_005263915.5:c.1949-2025CG[14]	XM_005263915.5:c.1949-2025CG[15]	XM_005263915.5:c.1949-2025CG[16]
CNNM4 transcript variant X7	XM_017003799.2:c.410-2025=	XM_017003799.2:c.410-2025CG[4]	XM_017003799.2:c.410-2025CG[5]	XM_017003799.2:c.410-2025CG[6]	XM_017003799.2:c.410-2025CG[7]	XM_017003799.2:c.410-2025CG[8]	XM_017003799.2:c.410-2025CG[10]	XM_017003799.2:c.410-2025CG[11]	XM_017003799.2:c.410-2025CG[12]	XM_017003799.2:c.410-2025CG[13]	XM_017003799.2:c.410-2025CG[14]	XM_017003799.2:c.410-2025CG[15]	XM_017003799.2:c.410-2025CG[16]
CNNM4 transcript variant X1	XM_047443911.1:c.2012-2025=	XM_047443911.1:c.2012-2025CG[4]	XM_047443911.1:c.2012-2025CG[5]	XM_047443911.1:c.2012-2025CG[6]	XM_047443911.1:c.2012-2025CG[7]	XM_047443911.1:c.2012-2025CG[8]	XM_047443911.1:c.2012-2025CG[10]	XM_047443911.1:c.2012-2025CG[11]	XM_047443911.1:c.2012-2025CG[12]	XM_047443911.1:c.2012-2025CG[13]	XM_047443911.1:c.2012-2025CG[14]	XM_047443911.1:c.2012-2025CG[15]	XM_047443911.1:c.2012-2025CG[16]
CNNM4 transcript variant X4	XM_047443912.1:c.1949-660=	XM_047443912.1:c.1949-660CG[4]	XM_047443912.1:c.1949-660CG[5]	XM_047443912.1:c.1949-660CG[6]	XM_047443912.1:c.1949-660CG[7]	XM_047443912.1:c.1949-660CG[8]	XM_047443912.1:c.1949-660CG[10]	XM_047443912.1:c.1949-660CG[11]	XM_047443912.1:c.1949-660CG[12]	XM_047443912.1:c.1949-660CG[13]	XM_047443912.1:c.1949-660CG[14]	XM_047443912.1:c.1949-660CG[15]	XM_047443912.1:c.1949-660CG[16]

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#.

31 SubSNP, 20 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	YUSUKE	ss5022495	Oct 11, 2018 (152)
2	LUNTER	ss551103505	Apr 25, 2013 (138)
3	EVA_UK10K_TWINSUK	ss1702874425	Oct 11, 2018 (152)
4	EVA_UK10K_ALSPAC	ss1702874431	Oct 11, 2018 (152)
5	ACPOP	ss3728666518	Jul 13, 2019 (153)
6	ACPOP	ss3728666521	Jul 13, 2019 (153)
7	PACBIO	ss3783932509	Jul 13, 2019 (153)
8	PACBIO	ss3783932510	Jul 13, 2019 (153)
9	PACBIO	ss3789506648	Jul 13, 2019 (153)
10	PACBIO	ss3789506649	Jul 13, 2019 (153)
11	PACBIO	ss3794379445	Jul 13, 2019 (153)
12	PACBIO	ss3794379446	Jul 13, 2019 (153)
13	EVA	ss3842383972	Apr 25, 2020 (154)
14	GNOMAD	ss4046641718	Apr 27, 2021 (155)
15	GNOMAD	ss4046641719	Apr 27, 2021 (155)
16	GNOMAD	ss4046641720	Apr 27, 2021 (155)
17	GNOMAD	ss4046641721	Apr 27, 2021 (155)
18	GNOMAD	ss4046641722	Apr 27, 2021 (155)
19	GNOMAD	ss4046641723	Apr 27, 2021 (155)
20	GNOMAD	ss4046641726	Apr 27, 2021 (155)
21	GNOMAD	ss4046641727	Apr 27, 2021 (155)
22	GNOMAD	ss4046641728	Apr 27, 2021 (155)
23	GNOMAD	ss4046641729	Apr 27, 2021 (155)
24	GNOMAD	ss4046641730	Apr 27, 2021 (155)
25	TOMMO_GENOMICS	ss5152749232	Apr 27, 2021 (155)
26	TOMMO_GENOMICS	ss5152749233	Apr 27, 2021 (155)
27	HUGCELL_USP	ss5449118734	Oct 17, 2022 (156)
28	HUGCELL_USP	ss5449118737	Oct 17, 2022 (156)
29	HUGCELL_USP	ss5449118738	Oct 17, 2022 (156)
30	TOMMO_GENOMICS	ss5682546105	Oct 17, 2022 (156)
31	TOMMO_GENOMICS	ss5682546106	Oct 17, 2022 (156)
32	The Avon Longitudinal Study of Parents and Children	NC_000002.11 - 97472292	Oct 11, 2018 (152)
33	gnomAD - Genomes Submission ignored due to conflicting rows: Row 66839592 (NC_000002.12:96806535::CG 2206/114496) Row 66839593 (NC_000002.12:96806535::CGCG 1575/114496) Row 66839594 (NC_000002.12:96806535::CGCGCG 509/114534)...	-	Apr 27, 2021 (155)
34	gnomAD - Genomes Submission ignored due to conflicting rows: Row 66839592 (NC_000002.12:96806535::CG 2206/114496) Row 66839593 (NC_000002.12:96806535::CGCG 1575/114496) Row 66839594 (NC_000002.12:96806535::CGCGCG 509/114534)...	-	Apr 27, 2021 (155)
35	gnomAD - Genomes Submission ignored due to conflicting rows: Row 66839592 (NC_000002.12:96806535::CG 2206/114496) Row 66839593 (NC_000002.12:96806535::CGCG 1575/114496) Row 66839594 (NC_000002.12:96806535::CGCGCG 509/114534)...	-	Apr 27, 2021 (155)
36	gnomAD - Genomes Submission ignored due to conflicting rows: Row 66839592 (NC_000002.12:96806535::CG 2206/114496) Row 66839593 (NC_000002.12:96806535::CGCG 1575/114496) Row 66839594 (NC_000002.12:96806535::CGCGCG 509/114534)...	-	Apr 27, 2021 (155)
37	gnomAD - Genomes Submission ignored due to conflicting rows: Row 66839592 (NC_000002.12:96806535::CG 2206/114496) Row 66839593 (NC_000002.12:96806535::CGCG 1575/114496) Row 66839594 (NC_000002.12:96806535::CGCGCG 509/114534)...	-	Apr 27, 2021 (155)
38	gnomAD - Genomes Submission ignored due to conflicting rows: Row 66839592 (NC_000002.12:96806535::CG 2206/114496) Row 66839593 (NC_000002.12:96806535::CGCG 1575/114496) Row 66839594 (NC_000002.12:96806535::CGCGCG 509/114534)...	-	Apr 27, 2021 (155)
39	gnomAD - Genomes Submission ignored due to conflicting rows: Row 66839592 (NC_000002.12:96806535::CG 2206/114496) Row 66839593 (NC_000002.12:96806535::CGCG 1575/114496) Row 66839594 (NC_000002.12:96806535::CGCGCG 509/114534)...	-	Apr 27, 2021 (155)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 66839592 (NC_000002.12:96806535::CG 2206/114496) Row 66839593 (NC_000002.12:96806535::CGCG 1575/114496) Row 66839594 (NC_000002.12:96806535::CGCGCG 509/114534)...	-	Apr 27, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 66839592 (NC_000002.12:96806535::CG 2206/114496) Row 66839593 (NC_000002.12:96806535::CGCG 1575/114496) Row 66839594 (NC_000002.12:96806535::CGCGCG 509/114534)...	-	Apr 27, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 66839592 (NC_000002.12:96806535::CG 2206/114496) Row 66839593 (NC_000002.12:96806535::CGCG 1575/114496) Row 66839594 (NC_000002.12:96806535::CGCGCG 509/114534)...	-	Apr 27, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 66839592 (NC_000002.12:96806535::CG 2206/114496) Row 66839593 (NC_000002.12:96806535::CGCG 1575/114496) Row 66839594 (NC_000002.12:96806535::CGCGCG 509/114534)...	-	Apr 27, 2021 (155)
44	Northern Sweden Submission ignored due to conflicting rows: Row 1951383 (NC_000002.11:97472272::CG 17/586) Row 1951386 (NC_000002.11:97472272::CGCG 3/586)	-	Jul 13, 2019 (153)
45	Northern Sweden Submission ignored due to conflicting rows: Row 1951383 (NC_000002.11:97472272::CG 17/586) Row 1951386 (NC_000002.11:97472272::CGCG 3/586)	-	Jul 13, 2019 (153)
46	8.3KJPN Submission ignored due to conflicting rows: Row 10718539 (NC_000002.11:97472272:CG: 195/16728) Row 10718540 (NC_000002.11:97472272::CG 946/16728)	-	Apr 27, 2021 (155)
47	8.3KJPN Submission ignored due to conflicting rows: Row 10718539 (NC_000002.11:97472272:CG: 195/16728) Row 10718540 (NC_000002.11:97472272::CG 946/16728)	-	Apr 27, 2021 (155)
48	14KJPN Submission ignored due to conflicting rows: Row 16383209 (NC_000002.12:96806535::CG 1611/28080) Row 16383210 (NC_000002.12:96806535:CG: 222/28080)	-	Oct 17, 2022 (156)
49	14KJPN Submission ignored due to conflicting rows: Row 16383209 (NC_000002.12:96806535::CG 1611/28080) Row 16383210 (NC_000002.12:96806535:CG: 222/28080)	-	Oct 17, 2022 (156)
50	UK 10K study - Twins	NC_000002.11 - 97472292	Oct 11, 2018 (152)
51	ALFA	NC_000002.12 - 96806536	Apr 27, 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
ss4046641730	NC_000002.12:96806535:CGCGCGCGCG:	NC_000002.12:96806535:CGCGCGCGCGCG… NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGC	(self)
1870216243	NC_000002.12:96806535:CGCGCGCGCGCG… NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGC	NC_000002.12:96806535:CGCGCGCGCGCG… NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGC	(self)
ss4046641729	NC_000002.12:96806535:CGCGCGCG:	NC_000002.12:96806535:CGCGCGCGCGCG… NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGCGC	(self)
1870216243	NC_000002.12:96806535:CGCGCGCGCGCG… NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGCGC	NC_000002.12:96806535:CGCGCGCGCGCG… NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGCGC	(self)
ss4046641728	NC_000002.12:96806535:CGCGCG:	NC_000002.12:96806535:CGCGCGCGCGCG… NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGCGCGC	(self)
1870216243	NC_000002.12:96806535:CGCGCGCGCGCG… NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGCGCGC	NC_000002.12:96806535:CGCGCGCGCGCG… NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGCGCGC	(self)
ss3783932509, ss3789506648, ss3794379445	NC_000002.11:97472272:CGCG:	NC_000002.12:96806535:CGCGCGCGCGCG… NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGCGCGCGC	(self)
ss4046641727	NC_000002.12:96806535:CGCG:	NC_000002.12:96806535:CGCGCGCGCGCG… NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGCGCGCGC	(self)
1870216243	NC_000002.12:96806535:CGCGCGCGCGCG… NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGCGCGCGC	NC_000002.12:96806535:CGCGCGCGCGCG… NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGCGCGCGC	(self)
ss5152749232	NC_000002.11:97472272:CG:	NC_000002.12:96806535:CGCGCGCGCGCG… NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGCGCGCGCGC	(self)
ss3842383972, ss4046641726, ss5449118738, ss5682546106	NC_000002.12:96806535:CG:	NC_000002.12:96806535:CGCGCGCGCGCG… NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGCGCGCGCGC	(self)
1870216243	NC_000002.12:96806535:CGCGCGCGCGCG… NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGCGCGCGCGC	NC_000002.12:96806535:CGCGCGCGCGCG… NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGCGCGCGCGC	(self)
ss551103505	NC_000002.10:96835999::CG	NC_000002.12:96806535:CGCGCGCGCGCG… NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGCGCGCGCGCGCGC	(self)
ss3728666518, ss3783932510, ss3789506649, ss3794379446, ss5152749233	NC_000002.11:97472272::CG	NC_000002.12:96806535:CGCGCGCGCGCG… NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGCGCGCGCGCGCGC	(self)
5169644, 5169644, ss1702874425, ss1702874431	NC_000002.11:97472291::GC	NC_000002.12:96806535:CGCGCGCGCGCG… NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGCGCGCGCGCGCGC	(self)
ss4046641718, ss5449118734, ss5682546105	NC_000002.12:96806535::CG	NC_000002.12:96806535:CGCGCGCGCGCG… NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGCGCGCGCGCGCGC	(self)
1870216243	NC_000002.12:96806535:CGCGCGCGCGCG… NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGCGCGCGCGCGCGC	NC_000002.12:96806535:CGCGCGCGCGCG… NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGCGCGCGCGCGCGC	(self)
ss5022495	NT_022171.15:2146120::GC	NC_000002.12:96806535:CGCGCGCGCGCG… NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGCGCGCGCGCGCGC	(self)
ss3728666521	NC_000002.11:97472272::CGCG	NC_000002.12:96806535:CGCGCGCGCGCG… NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGCGCGCGCGCGCGCGC	(self)
ss4046641719, ss5449118737	NC_000002.12:96806535::CGCG	NC_000002.12:96806535:CGCGCGCGCGCG… NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGCGCGCGCGCGCGCGC	(self)
1870216243	NC_000002.12:96806535:CGCGCGCGCGCG… NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGCGCGCGCGCGCGCGC	NC_000002.12:96806535:CGCGCGCGCGCG… NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGCGCGCGCGCGCGCGC	(self)
ss4046641720	NC_000002.12:96806535::CGCGCG	NC_000002.12:96806535:CGCGCGCGCGCG… NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGCGCGCGCGCGCGCGCGC	(self)
1870216243	NC_000002.12:96806535:CGCGCGCGCGCG… NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGCGCGCGCGCGCGCGCGC	NC_000002.12:96806535:CGCGCGCGCGCG… NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGCGCGCGCGCGCGCGCGC	(self)
ss4046641721	NC_000002.12:96806535::CGCGCGCG	NC_000002.12:96806535:CGCGCGCGCGCG… NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGCGCGCGCGCGCGCGCGCGC	(self)
1870216243	NC_000002.12:96806535:CGCGCGCGCGCG… NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGCGCGCGCGCGCGCGCGCGC	NC_000002.12:96806535:CGCGCGCGCGCG… NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGCGCGCGCGCGCGCGCGCGC	(self)
ss4046641722	NC_000002.12:96806535::CGCGCGCGCG	NC_000002.12:96806535:CGCGCGCGCGCG… NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGCGCGCGCGCGCGCGCGCGCGC	(self)
1870216243	NC_000002.12:96806535:CGCGCGCGCGCG… NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGCGCGCGCGCGCGCGCGCGCGC	NC_000002.12:96806535:CGCGCGCGCGCG… NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGCGCGCGCGCGCGCGCGCGCGC	(self)
1870216243	NC_000002.12:96806535:CGCGCGCGCGCG… NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC	NC_000002.12:96806535:CGCGCGCGCGCG… NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC	(self)
ss4046641723	NC_000002.12:96806535::CGCGCGCGCGC… NC_000002.12:96806535::CGCGCGCGCGCGCG	NC_000002.12:96806535:CGCGCGCGCGCG… NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3316637903	NC_000002.12:96806535::CGCGCGCGCGCG	NC_000002.12:96806535:CGCGCGCGCGCG… NC_000002.12:96806535:CGCGCGCGCGCGCGCGCGC:CGCGCGCGCGCGCGCGCGCGCGCGCGCGCGC

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

No publications for rs1553479692

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

rs1553479692