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dbSNP Short Genetic Variations

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.


Current Build 155

Released April 9, 2021

Homo sapiens
chr1:94422-94425 (GRCh38.p13) 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.

Variation Type
Indel Insertion and Deletion
delC=0.034184 (3577/104640, GnomAD)
delC=0.27640 (4627/16740, 8.3KJPN)
delC=0.03060 (496/16208, ALFA) (+ 2 more)
delC=0.051 (30/594, NorthernSweden)
delC=0.05 (2/38, GENOME_DK)
Clinical Significance
Not Reported in ClinVar
Gene : Consequence
LOC100996442 : Intron Variant
0 citations
Genomic View
See rs on genome

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.p13 chr 1 NC_000001.11:g.94425del
GRCh37.p13 chr 1 NC_000001.10:g.94425del
Gene: LOC100996442, uncharacterized LOC100996442 (minus strand)
Molecule type Change Amino acid[Codon] SO Term
LOC100996442 transcript variant X4 XR_001737578.2:n. N/A Intron Variant
LOC100996442 transcript variant X8 XR_001737580.2:n. N/A Intron Variant
LOC100996442 transcript variant X11 XR_001737581.2:n. N/A Intron Variant
LOC100996442 transcript variant X12 XR_001737582.2:n. N/A Intron Variant
LOC100996442 transcript variant X13 XR_001737583.2:n. N/A Intron Variant
LOC100996442 transcript variant X14 XR_001737584.2:n. N/A Intron Variant
LOC100996442 transcript variant X5 XR_001737579.2:n. N/A Genic Downstream Transcript Variant
LOC100996442 transcript variant X1 XR_002958514.1:n. N/A Genic Downstream Transcript Variant
LOC100996442 transcript variant X2 XR_002958515.1:n. N/A Genic Downstream Transcript Variant
LOC100996442 transcript variant X3 XR_002958516.1:n. N/A Genic Downstream Transcript Variant
LOC100996442 transcript variant X6 XR_002958517.1:n. N/A Genic Downstream Transcript Variant
LOC100996442 transcript variant X7 XR_002958518.1:n. N/A Genic Downstream Transcript Variant
LOC100996442 transcript variant X9 XR_002958519.1:n. N/A Genic Downstream Transcript Variant
LOC100996442 transcript variant X10 XR_002958520.1:n. N/A Genic Downstream 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

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: 20201027095038
Population Group Sample Size Ref Allele Alt Allele
Total Global 16208 CCCC=0.96940 CCC=0.03060
European Sub 11956 CCCC=0.97424 CCC=0.02576
African Sub 2816 CCCC=0.9915 CCC=0.0085
African Others Sub 108 CCCC=1.000 CCC=0.000
African American Sub 2708 CCCC=0.9911 CCC=0.0089
Asian Sub 108 CCCC=0.676 CCC=0.324
East Asian Sub 84 CCCC=0.65 CCC=0.35
Other Asian Sub 24 CCCC=0.75 CCC=0.25
Latin American 1 Sub 146 CCCC=0.973 CCC=0.027
Latin American 2 Sub 610 CCCC=0.834 CCC=0.166
South Asian Sub 94 CCCC=0.99 CCC=0.01
Other Sub 478 CCCC=0.952 CCC=0.048


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").

Study Population Group Sample Size Ref Allele Alt Allele
gnomAD - Genomes Global Study-wide 104640 (C)4=0.965816 delC=0.034184
gnomAD - Genomes European Sub 54928 (C)4=0.97575 delC=0.02425
gnomAD - Genomes African Sub 33722 (C)4=0.99170 delC=0.00830
gnomAD - Genomes American Sub 9534 (C)4=0.8859 delC=0.1141
gnomAD - Genomes Ashkenazi Jewish Sub 2508 (C)4=0.9789 delC=0.0211
gnomAD - Genomes East Asian Sub 2456 (C)4=0.6983 delC=0.3017
gnomAD - Genomes Other Sub 1492 (C)4=0.9444 delC=0.0556
8.3KJPN JAPANESE Study-wide 16740 (C)4=0.72360 delC=0.27640
Northern Sweden ACPOP Study-wide 594 (C)4=0.949 delC=0.051
The Danish reference pan genome Danish Study-wide 38 (C)4=0.95 delC=0.05

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 (C)4= delC
GRCh38.p13 chr 1 NC_000001.11:g.94422_94425= NC_000001.11:g.94425del
GRCh37.p13 chr 1 NC_000001.10:g.94422_94425= NC_000001.10:g.94425del

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#.

9 SubSNP, 5 Frequency submissions
No Submitter Submission ID Date (Build)
1 1000GENOMES ss498763765 May 04, 2012 (137)
2 EVA_GENOME_DK ss1573867089 Apr 01, 2015 (144)
3 GNOMAD ss2750607570 Nov 08, 2017 (151)
4 SWEGEN ss2986142642 Nov 08, 2017 (151)
5 MCHAISSO ss3063573417 Nov 08, 2017 (151)
6 TOPMED ss3066329444 Nov 08, 2017 (151)
7 EVA_DECODE ss3685990747 Jul 12, 2019 (153)
8 ACPOP ss3726715309 Jul 12, 2019 (153)
9 TOMMO_GENOMICS ss5142034942 Apr 25, 2021 (155)
10 The Danish reference pan genome NC_000001.10 - 94422 Apr 25, 2020 (154)
11 gnomAD - Genomes NC_000001.11 - 94422 Apr 25, 2021 (155)
12 Northern Sweden NC_000001.10 - 94422 Jul 12, 2019 (153)
13 8.3KJPN NC_000001.10 - 94422 Apr 25, 2021 (155)
14 ALFA NC_000001.11 - 94422 Apr 25, 2021 (155)

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

Added to this RefSNP Cluster:
Submission IDs Observation SPDI Canonical SPDI Source RSIDs
120147, 174, 4249, ss498763765, ss1573867089, ss2750607570, ss2986142642, ss3726715309, ss5142034942 NC_000001.10:94421:C: NC_000001.11:94421:CCCC:CCC (self)
11204, ss3063573417, ss3066329444, ss3685990747 NC_000001.11:94421:C: NC_000001.11:94421:CCCC:CCC (self)
10520365657 NC_000001.11:94421:CCCC:CCC NC_000001.11:94421:CCCC:CCC

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

No publications for rs200856736


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.

Software version is: 2.0.1.post596+ae089ad