Name: rs538842818
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.

rs538842818

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr22:19049827-19049845 (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(A)₈ / del(A)₆ / del(A)₅ / del(…
del(A)₈ / del(A)₆ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₅
Variation Type: Indel Insertion and Deletion
Frequency: delAA=0.0823 (633/7690, ALFA)
delAA=0.4289 (2148/5008, 1000G)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: DGCR2 : Intron Variant
DGCR11 : 2KB Upstream 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	7690	AAAAAAAAAAAAAAAAAAA=0.8395	AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0823, AAAAAAAAAAAAAAAAAA=0.0761, AAAAAAAAAAAAAAAAAAAA=0.0017, AAAAAAAAAAAAAAAAAAAAAAAA=0.0004, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000	0.848976	0.013757	0.137267	15
European	Sub	6958	AAAAAAAAAAAAAAAAAAA=0.8231	AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0907, AAAAAAAAAAAAAAAAAA=0.0839, AAAAAAAAAAAAAAAAAAAA=0.0019, AAAAAAAAAAAAAAAAAAAAAAAA=0.0004, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000	0.830351	0.015485	0.154164	11
African	Sub	374	AAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	12	AAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	362	AAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	34	AAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	26	AAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	8	AAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 1	Sub	28	AAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	178	AAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	14	AAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	104	AAAAAAAAAAAAAAAAAAA=0.971	AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.019, AAAAAAAAAAAAAAAAAA=0.010, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000	0.980392	0.0	0.019608	0

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
Allele Frequency Aggregator	Total	Global	7690	(A)₁₉=0.8395	del(A)₄=0.0000, delAAA=0.0000, delAA=0.0823, delA=0.0761, dupA=0.0017, dupAA=0.0000, dupAAA=0.0000, dup(A)₄=0.0000, dup(A)₅=0.0004
Allele Frequency Aggregator	European	Sub	6958	(A)₁₉=0.8231	del(A)₄=0.0000, delAAA=0.0000, delAA=0.0907, delA=0.0839, dupA=0.0019, dupAA=0.0000, dupAAA=0.0000, dup(A)₄=0.0000, dup(A)₅=0.0004
Allele Frequency Aggregator	African	Sub	374	(A)₁₉=1.000	del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000
Allele Frequency Aggregator	Latin American 2	Sub	178	(A)₁₉=1.000	del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000
Allele Frequency Aggregator	Other	Sub	104	(A)₁₉=0.971	del(A)₄=0.000, delAAA=0.000, delAA=0.019, delA=0.010, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000
Allele Frequency Aggregator	Asian	Sub	34	(A)₁₉=1.00	del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00
Allele Frequency Aggregator	Latin American 1	Sub	28	(A)₁₉=1.00	del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00
Allele Frequency Aggregator	South Asian	Sub	14	(A)₁₉=1.00	del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00
1000Genomes	Global	Study-wide	5008	(A)₁₉=0.5711	delAA=0.4289
1000Genomes	African	Sub	1322	(A)₁₉=0.4009	delAA=0.5991
1000Genomes	East Asian	Sub	1008	(A)₁₉=0.6835	delAA=0.3165
1000Genomes	Europe	Sub	1006	(A)₁₉=0.6630	delAA=0.3370
1000Genomes	South Asian	Sub	978	(A)₁₉=0.603	delAA=0.397
1000Genomes	American	Sub	694	(A)₁₉=0.553	delAA=0.447

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 22	NC_000022.11:g.19049838_19049845del
GRCh38.p14 chr 22	NC_000022.11:g.19049840_19049845del
GRCh38.p14 chr 22	NC_000022.11:g.19049841_19049845del
GRCh38.p14 chr 22	NC_000022.11:g.19049842_19049845del
GRCh38.p14 chr 22	NC_000022.11:g.19049843_19049845del
GRCh38.p14 chr 22	NC_000022.11:g.19049844_19049845del
GRCh38.p14 chr 22	NC_000022.11:g.19049845del
GRCh38.p14 chr 22	NC_000022.11:g.19049845dup
GRCh38.p14 chr 22	NC_000022.11:g.19049844_19049845dup
GRCh38.p14 chr 22	NC_000022.11:g.19049843_19049845dup
GRCh38.p14 chr 22	NC_000022.11:g.19049842_19049845dup
GRCh38.p14 chr 22	NC_000022.11:g.19049841_19049845dup
GRCh37.p13 chr 22	NC_000022.10:g.19037351_19037358del
GRCh37.p13 chr 22	NC_000022.10:g.19037353_19037358del
GRCh37.p13 chr 22	NC_000022.10:g.19037354_19037358del
GRCh37.p13 chr 22	NC_000022.10:g.19037355_19037358del
GRCh37.p13 chr 22	NC_000022.10:g.19037356_19037358del
GRCh37.p13 chr 22	NC_000022.10:g.19037357_19037358del
GRCh37.p13 chr 22	NC_000022.10:g.19037358del
GRCh37.p13 chr 22	NC_000022.10:g.19037358dup
GRCh37.p13 chr 22	NC_000022.10:g.19037357_19037358dup
GRCh37.p13 chr 22	NC_000022.10:g.19037356_19037358dup
GRCh37.p13 chr 22	NC_000022.10:g.19037355_19037358dup
GRCh37.p13 chr 22	NC_000022.10:g.19037354_19037358dup
DGCR2 RefSeqGene	NG_021333.2:g.77621_77628del
DGCR2 RefSeqGene	NG_021333.2:g.77623_77628del
DGCR2 RefSeqGene	NG_021333.2:g.77624_77628del
DGCR2 RefSeqGene	NG_021333.2:g.77625_77628del
DGCR2 RefSeqGene	NG_021333.2:g.77626_77628del
DGCR2 RefSeqGene	NG_021333.2:g.77627_77628del
DGCR2 RefSeqGene	NG_021333.2:g.77628del
DGCR2 RefSeqGene	NG_021333.2:g.77628dup
DGCR2 RefSeqGene	NG_021333.2:g.77627_77628dup
DGCR2 RefSeqGene	NG_021333.2:g.77626_77628dup
DGCR2 RefSeqGene	NG_021333.2:g.77625_77628dup
DGCR2 RefSeqGene	NG_021333.2:g.77624_77628dup

Gene: DGCR2, DiGeorge syndrome critical region gene 2 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
DGCR2 transcript variant 2	NM_001173533.2:c.680-1191… NM_001173533.2:c.680-1191_680-1184del	N/A	Intron Variant
DGCR2 transcript variant 3	NM_001173534.2:c.671-1191… NM_001173534.2:c.671-1191_671-1184del	N/A	Intron Variant
DGCR2 transcript variant 4	NM_001184781.2:c.794-1191… NM_001184781.2:c.794-1191_794-1184del	N/A	Intron Variant
DGCR2 transcript variant 1	NM_005137.3:c.803-1191_80… NM_005137.3:c.803-1191_803-1184del	N/A	Intron Variant
DGCR2 transcript variant 5	NR_033674.2:n.	N/A	Intron Variant

Gene: DGCR11, DiGeorge syndrome critical region gene 11 (minus strand) : 2KB Upstream Variant

Molecule type	Change	Amino acid[Codon]	SO Term
DGCR11 transcript	NR_024157.1:n.	N/A	Upstream Transcript Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	(A)₁₉=	del(A)₈	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅
GRCh38.p14 chr 22	NC_000022.11:g.19049827_19049845=	NC_000022.11:g.19049838_19049845del	NC_000022.11:g.19049840_19049845del	NC_000022.11:g.19049841_19049845del	NC_000022.11:g.19049842_19049845del	NC_000022.11:g.19049843_19049845del	NC_000022.11:g.19049844_19049845del	NC_000022.11:g.19049845del	NC_000022.11:g.19049845dup	NC_000022.11:g.19049844_19049845dup	NC_000022.11:g.19049843_19049845dup	NC_000022.11:g.19049842_19049845dup	NC_000022.11:g.19049841_19049845dup
GRCh37.p13 chr 22	NC_000022.10:g.19037340_19037358=	NC_000022.10:g.19037351_19037358del	NC_000022.10:g.19037353_19037358del	NC_000022.10:g.19037354_19037358del	NC_000022.10:g.19037355_19037358del	NC_000022.10:g.19037356_19037358del	NC_000022.10:g.19037357_19037358del	NC_000022.10:g.19037358del	NC_000022.10:g.19037358dup	NC_000022.10:g.19037357_19037358dup	NC_000022.10:g.19037356_19037358dup	NC_000022.10:g.19037355_19037358dup	NC_000022.10:g.19037354_19037358dup
DGCR2 RefSeqGene	NG_021333.2:g.77610_77628=	NG_021333.2:g.77621_77628del	NG_021333.2:g.77623_77628del	NG_021333.2:g.77624_77628del	NG_021333.2:g.77625_77628del	NG_021333.2:g.77626_77628del	NG_021333.2:g.77627_77628del	NG_021333.2:g.77628del	NG_021333.2:g.77628dup	NG_021333.2:g.77627_77628dup	NG_021333.2:g.77626_77628dup	NG_021333.2:g.77625_77628dup	NG_021333.2:g.77624_77628dup
DGCR2 transcript variant 2	NM_001173533.1:c.680-1184=	NM_001173533.1:c.680-1191_680-1184del	NM_001173533.1:c.680-1189_680-1184del	NM_001173533.1:c.680-1188_680-1184del	NM_001173533.1:c.680-1187_680-1184del	NM_001173533.1:c.680-1186_680-1184del	NM_001173533.1:c.680-1185_680-1184del	NM_001173533.1:c.680-1184del	NM_001173533.1:c.680-1184dup	NM_001173533.1:c.680-1185_680-1184dup	NM_001173533.1:c.680-1186_680-1184dup	NM_001173533.1:c.680-1187_680-1184dup	NM_001173533.1:c.680-1188_680-1184dup
DGCR2 transcript variant 2	NM_001173533.2:c.680-1184=	NM_001173533.2:c.680-1191_680-1184del	NM_001173533.2:c.680-1189_680-1184del	NM_001173533.2:c.680-1188_680-1184del	NM_001173533.2:c.680-1187_680-1184del	NM_001173533.2:c.680-1186_680-1184del	NM_001173533.2:c.680-1185_680-1184del	NM_001173533.2:c.680-1184del	NM_001173533.2:c.680-1184dup	NM_001173533.2:c.680-1185_680-1184dup	NM_001173533.2:c.680-1186_680-1184dup	NM_001173533.2:c.680-1187_680-1184dup	NM_001173533.2:c.680-1188_680-1184dup
DGCR2 transcript variant 3	NM_001173534.1:c.671-1184=	NM_001173534.1:c.671-1191_671-1184del	NM_001173534.1:c.671-1189_671-1184del	NM_001173534.1:c.671-1188_671-1184del	NM_001173534.1:c.671-1187_671-1184del	NM_001173534.1:c.671-1186_671-1184del	NM_001173534.1:c.671-1185_671-1184del	NM_001173534.1:c.671-1184del	NM_001173534.1:c.671-1184dup	NM_001173534.1:c.671-1185_671-1184dup	NM_001173534.1:c.671-1186_671-1184dup	NM_001173534.1:c.671-1187_671-1184dup	NM_001173534.1:c.671-1188_671-1184dup
DGCR2 transcript variant 3	NM_001173534.2:c.671-1184=	NM_001173534.2:c.671-1191_671-1184del	NM_001173534.2:c.671-1189_671-1184del	NM_001173534.2:c.671-1188_671-1184del	NM_001173534.2:c.671-1187_671-1184del	NM_001173534.2:c.671-1186_671-1184del	NM_001173534.2:c.671-1185_671-1184del	NM_001173534.2:c.671-1184del	NM_001173534.2:c.671-1184dup	NM_001173534.2:c.671-1185_671-1184dup	NM_001173534.2:c.671-1186_671-1184dup	NM_001173534.2:c.671-1187_671-1184dup	NM_001173534.2:c.671-1188_671-1184dup
DGCR2 transcript variant 4	NM_001184781.1:c.794-1184=	NM_001184781.1:c.794-1191_794-1184del	NM_001184781.1:c.794-1189_794-1184del	NM_001184781.1:c.794-1188_794-1184del	NM_001184781.1:c.794-1187_794-1184del	NM_001184781.1:c.794-1186_794-1184del	NM_001184781.1:c.794-1185_794-1184del	NM_001184781.1:c.794-1184del	NM_001184781.1:c.794-1184dup	NM_001184781.1:c.794-1185_794-1184dup	NM_001184781.1:c.794-1186_794-1184dup	NM_001184781.1:c.794-1187_794-1184dup	NM_001184781.1:c.794-1188_794-1184dup
DGCR2 transcript variant 4	NM_001184781.2:c.794-1184=	NM_001184781.2:c.794-1191_794-1184del	NM_001184781.2:c.794-1189_794-1184del	NM_001184781.2:c.794-1188_794-1184del	NM_001184781.2:c.794-1187_794-1184del	NM_001184781.2:c.794-1186_794-1184del	NM_001184781.2:c.794-1185_794-1184del	NM_001184781.2:c.794-1184del	NM_001184781.2:c.794-1184dup	NM_001184781.2:c.794-1185_794-1184dup	NM_001184781.2:c.794-1186_794-1184dup	NM_001184781.2:c.794-1187_794-1184dup	NM_001184781.2:c.794-1188_794-1184dup
DGCR2 transcript variant 1	NM_005137.2:c.803-1184=	NM_005137.2:c.803-1191_803-1184del	NM_005137.2:c.803-1189_803-1184del	NM_005137.2:c.803-1188_803-1184del	NM_005137.2:c.803-1187_803-1184del	NM_005137.2:c.803-1186_803-1184del	NM_005137.2:c.803-1185_803-1184del	NM_005137.2:c.803-1184del	NM_005137.2:c.803-1184dup	NM_005137.2:c.803-1185_803-1184dup	NM_005137.2:c.803-1186_803-1184dup	NM_005137.2:c.803-1187_803-1184dup	NM_005137.2:c.803-1188_803-1184dup
DGCR2 transcript variant 1	NM_005137.3:c.803-1184=	NM_005137.3:c.803-1191_803-1184del	NM_005137.3:c.803-1189_803-1184del	NM_005137.3:c.803-1188_803-1184del	NM_005137.3:c.803-1187_803-1184del	NM_005137.3:c.803-1186_803-1184del	NM_005137.3:c.803-1185_803-1184del	NM_005137.3:c.803-1184del	NM_005137.3:c.803-1184dup	NM_005137.3:c.803-1185_803-1184dup	NM_005137.3:c.803-1186_803-1184dup	NM_005137.3:c.803-1187_803-1184dup	NM_005137.3:c.803-1188_803-1184dup

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#.

52 SubSNP, 24 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SSMP	ss664515855	Apr 01, 2015 (144)
2	SSIP	ss947414006	Aug 21, 2014 (142)
3	1000GENOMES	ss1378891796	Aug 21, 2014 (142)
4	EVA_UK10K_ALSPAC	ss1709539391	Apr 01, 2015 (144)
5	EVA_UK10K_TWINSUK	ss1709539517	Apr 01, 2015 (144)
6	EVA_UK10K_TWINSUK	ss1710836949	Jan 10, 2018 (151)
7	EVA_UK10K_ALSPAC	ss1710836950	Jan 10, 2018 (151)
8	MCHAISSO	ss3064022532	Nov 08, 2017 (151)
9	MCHAISSO	ss3065848917	Nov 08, 2017 (151)
10	EVA_DECODE	ss3707940449	Jul 13, 2019 (153)
11	EVA_DECODE	ss3707940450	Jul 13, 2019 (153)
12	EVA_DECODE	ss3707940451	Jul 13, 2019 (153)
13	EVA_DECODE	ss3707940452	Jul 13, 2019 (153)
14	EVA_DECODE	ss3707940453	Jul 13, 2019 (153)
15	EVA_DECODE	ss3707940454	Jul 13, 2019 (153)
16	PACBIO	ss3788791356	Jul 13, 2019 (153)
17	PACBIO	ss3793662742	Jul 13, 2019 (153)
18	PACBIO	ss3798549060	Jul 13, 2019 (153)
19	PACBIO	ss3798549061	Jul 13, 2019 (153)
20	KHV_HUMAN_GENOMES	ss3822390111	Jul 13, 2019 (153)
21	EVA	ss3835923828	Apr 27, 2020 (154)
22	GNOMAD	ss4362432803	Apr 27, 2021 (155)
23	GNOMAD	ss4362432804	Apr 27, 2021 (155)
24	GNOMAD	ss4362432805	Apr 27, 2021 (155)
25	GNOMAD	ss4362432806	Apr 27, 2021 (155)
26	GNOMAD	ss4362432807	Apr 27, 2021 (155)
27	GNOMAD	ss4362432808	Apr 27, 2021 (155)
28	GNOMAD	ss4362432809	Apr 27, 2021 (155)
29	GNOMAD	ss4362432810	Apr 27, 2021 (155)
30	GNOMAD	ss4362432811	Apr 27, 2021 (155)
31	GNOMAD	ss4362432812	Apr 27, 2021 (155)
32	GNOMAD	ss4362432813	Apr 27, 2021 (155)
33	GNOMAD	ss4362432814	Apr 27, 2021 (155)
34	TOMMO_GENOMICS	ss5232007733	Apr 27, 2021 (155)
35	TOMMO_GENOMICS	ss5232007734	Apr 27, 2021 (155)
36	TOMMO_GENOMICS	ss5232007735	Apr 27, 2021 (155)
37	1000G_HIGH_COVERAGE	ss5310633232	Oct 16, 2022 (156)
38	1000G_HIGH_COVERAGE	ss5310633233	Oct 16, 2022 (156)
39	1000G_HIGH_COVERAGE	ss5310633234	Oct 16, 2022 (156)
40	1000G_HIGH_COVERAGE	ss5310633235	Oct 16, 2022 (156)
41	1000G_HIGH_COVERAGE	ss5310633236	Oct 16, 2022 (156)
42	HUGCELL_USP	ss5502546866	Oct 16, 2022 (156)
43	HUGCELL_USP	ss5502546867	Oct 16, 2022 (156)
44	HUGCELL_USP	ss5502546868	Oct 16, 2022 (156)
45	HUGCELL_USP	ss5502546869	Oct 16, 2022 (156)
46	HUGCELL_USP	ss5502546870	Oct 16, 2022 (156)
47	TOMMO_GENOMICS	ss5792948018	Oct 16, 2022 (156)
48	TOMMO_GENOMICS	ss5792948019	Oct 16, 2022 (156)
49	TOMMO_GENOMICS	ss5792948020	Oct 16, 2022 (156)
50	EVA	ss5821889949	Oct 16, 2022 (156)
51	EVA	ss5821889950	Oct 16, 2022 (156)
52	EVA	ss5853343161	Oct 16, 2022 (156)
53	1000Genomes	NC_000022.10 - 19037340	Oct 12, 2018 (152)
54	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 44365678 (NC_000022.10:19037339:AAA: 253/3854) Row 44365679 (NC_000022.10:19037340:A: 1956/3854)	-	Oct 12, 2018 (152)
55	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 44365678 (NC_000022.10:19037339:AAA: 253/3854) Row 44365679 (NC_000022.10:19037340:A: 1956/3854)	-	Oct 12, 2018 (152)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 566345652 (NC_000022.11:19049826::A 1174/101282) Row 566345653 (NC_000022.11:19049826::AA 7/101440) Row 566345654 (NC_000022.11:19049826::AAA 57/101454)...	-	Apr 27, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 566345652 (NC_000022.11:19049826::A 1174/101282) Row 566345653 (NC_000022.11:19049826::AA 7/101440) Row 566345654 (NC_000022.11:19049826::AAA 57/101454)...	-	Apr 27, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 566345652 (NC_000022.11:19049826::A 1174/101282) Row 566345653 (NC_000022.11:19049826::AA 7/101440) Row 566345654 (NC_000022.11:19049826::AAA 57/101454)...	-	Apr 27, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 566345652 (NC_000022.11:19049826::A 1174/101282) Row 566345653 (NC_000022.11:19049826::AA 7/101440) Row 566345654 (NC_000022.11:19049826::AAA 57/101454)...	-	Apr 27, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 566345652 (NC_000022.11:19049826::A 1174/101282) Row 566345653 (NC_000022.11:19049826::AA 7/101440) Row 566345654 (NC_000022.11:19049826::AAA 57/101454)...	-	Apr 27, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 566345652 (NC_000022.11:19049826::A 1174/101282) Row 566345653 (NC_000022.11:19049826::AA 7/101440) Row 566345654 (NC_000022.11:19049826::AAA 57/101454)...	-	Apr 27, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 566345652 (NC_000022.11:19049826::A 1174/101282) Row 566345653 (NC_000022.11:19049826::AA 7/101440) Row 566345654 (NC_000022.11:19049826::AAA 57/101454)...	-	Apr 27, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 566345652 (NC_000022.11:19049826::A 1174/101282) Row 566345653 (NC_000022.11:19049826::AA 7/101440) Row 566345654 (NC_000022.11:19049826::AAA 57/101454)...	-	Apr 27, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 566345652 (NC_000022.11:19049826::A 1174/101282) Row 566345653 (NC_000022.11:19049826::AA 7/101440) Row 566345654 (NC_000022.11:19049826::AAA 57/101454)...	-	Apr 27, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 566345652 (NC_000022.11:19049826::A 1174/101282) Row 566345653 (NC_000022.11:19049826::AA 7/101440) Row 566345654 (NC_000022.11:19049826::AAA 57/101454)...	-	Apr 27, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 566345652 (NC_000022.11:19049826::A 1174/101282) Row 566345653 (NC_000022.11:19049826::AA 7/101440) Row 566345654 (NC_000022.11:19049826::AAA 57/101454)...	-	Apr 27, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 566345652 (NC_000022.11:19049826::A 1174/101282) Row 566345653 (NC_000022.11:19049826::AA 7/101440) Row 566345654 (NC_000022.11:19049826::AAA 57/101454)...	-	Apr 27, 2021 (155)
68	8.3KJPN Submission ignored due to conflicting rows: Row 89977040 (NC_000022.10:19037339:AA: 3461/16720) Row 89977041 (NC_000022.10:19037339:A: 2224/16720) Row 89977042 (NC_000022.10:19037339::A 1038/16720)	-	Apr 27, 2021 (155)
69	8.3KJPN Submission ignored due to conflicting rows: Row 89977040 (NC_000022.10:19037339:AA: 3461/16720) Row 89977041 (NC_000022.10:19037339:A: 2224/16720) Row 89977042 (NC_000022.10:19037339::A 1038/16720)	-	Apr 27, 2021 (155)
70	8.3KJPN Submission ignored due to conflicting rows: Row 89977040 (NC_000022.10:19037339:AA: 3461/16720) Row 89977041 (NC_000022.10:19037339:A: 2224/16720) Row 89977042 (NC_000022.10:19037339::A 1038/16720)	-	Apr 27, 2021 (155)
71	14KJPN Submission ignored due to conflicting rows: Row 126785122 (NC_000022.11:19049826:AA: 6140/28236) Row 126785123 (NC_000022.11:19049826:A: 3968/28236) Row 126785124 (NC_000022.11:19049826::A 1781/28236)	-	Oct 16, 2022 (156)
72	14KJPN Submission ignored due to conflicting rows: Row 126785122 (NC_000022.11:19049826:AA: 6140/28236) Row 126785123 (NC_000022.11:19049826:A: 3968/28236) Row 126785124 (NC_000022.11:19049826::A 1781/28236)	-	Oct 16, 2022 (156)
73	14KJPN Submission ignored due to conflicting rows: Row 126785122 (NC_000022.11:19049826:AA: 6140/28236) Row 126785123 (NC_000022.11:19049826:A: 3968/28236) Row 126785124 (NC_000022.11:19049826::A 1781/28236)	-	Oct 16, 2022 (156)
74	UK 10K study - Twins Submission ignored due to conflicting rows: Row 44365678 (NC_000022.10:19037339:AAA: 244/3708) Row 44365679 (NC_000022.10:19037340:A: 1854/3708)	-	Oct 12, 2018 (152)
75	UK 10K study - Twins Submission ignored due to conflicting rows: Row 44365678 (NC_000022.10:19037339:AAA: 244/3708) Row 44365679 (NC_000022.10:19037340:A: 1854/3708)	-	Oct 12, 2018 (152)
76	ALFA	NC_000022.11 - 19049827	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).

Associated ID	History Updated (Build)
rs796955520	Nov 08, 2017 (151)
rs796142771	Nov 08, 2017 (151)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4362432814	NC_000022.11:19049826:AAAAAAAA:	NC_000022.11:19049826:AAAAAAAAAAAA… NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss4362432813	NC_000022.11:19049826:AAAAAA:	NC_000022.11:19049826:AAAAAAAAAAAA… NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3707940454, ss4362432812	NC_000022.11:19049826:AAAAA:	NC_000022.11:19049826:AAAAAAAAAAAA… NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4362432811, ss5310633236	NC_000022.11:19049826:AAAA:	NC_000022.11:19049826:AAAAAAAAAAAA… NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
4466735295	NC_000022.11:19049826:AAAAAAAAAAAA… NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000022.11:19049826:AAAAAAAAAAAA… NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3707940453	NC_000022.11:19049827:AAAA:	NC_000022.11:19049826:AAAAAAAAAAAA… NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss1709539391, ss1709539517, ss3788791356, ss3798549060, ss5821889950	NC_000022.10:19037339:AAA:	NC_000022.11:19049826:AAAAAAAAAAAA… NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4362432810, ss5502546867	NC_000022.11:19049826:AAA:	NC_000022.11:19049826:AAAAAAAAAAAA… NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
4466735295	NC_000022.11:19049826:AAAAAAAAAAAA… NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000022.11:19049826:AAAAAAAAAAAA… NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3707940452	NC_000022.11:19049828:AAA:	NC_000022.11:19049826:AAAAAAAAAAAA… NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
80188385, ss1378891796, ss3793662742, ss3798549061, ss3835923828, ss5232007733, ss5821889949	NC_000022.10:19037339:AA:	NC_000022.11:19049826:AAAAAAAAAAAA… NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss1710836949, ss1710836950	NC_000022.10:19037340:AA:	NC_000022.11:19049826:AAAAAAAAAAAA… NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3064022532, ss3065848917, ss3822390111, ss4362432809, ss5310633233, ss5502546866, ss5792948018, ss5853343161	NC_000022.11:19049826:AA:	NC_000022.11:19049826:AAAAAAAAAAAA… NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
4466735295	NC_000022.11:19049826:AAAAAAAAAAAA… NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000022.11:19049826:AAAAAAAAAAAA… NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3707940451	NC_000022.11:19049829:AA:	NC_000022.11:19049826:AAAAAAAAAAAA… NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss5232007734	NC_000022.10:19037339:A:	NC_000022.11:19049826:AAAAAAAAAAAA… NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
	NC_000022.10:19037340:A:	NC_000022.11:19049826:AAAAAAAAAAAA… NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4362432808, ss5310633234, ss5502546868, ss5792948019	NC_000022.11:19049826:A:	NC_000022.11:19049826:AAAAAAAAAAAA… NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
4466735295	NC_000022.11:19049826:AAAAAAAAAAAA… NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000022.11:19049826:AAAAAAAAAAAA… NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3707940450	NC_000022.11:19049830:A:	NC_000022.11:19049826:AAAAAAAAAAAA… NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss664515855, ss5232007735	NC_000022.10:19037339::A	NC_000022.11:19049826:AAAAAAAAAAAA… NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss947414006	NC_000022.10:19037341::A	NC_000022.11:19049826:AAAAAAAAAAAA… NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4362432803, ss5310633232, ss5502546869, ss5792948020	NC_000022.11:19049826::A	NC_000022.11:19049826:AAAAAAAAAAAA… NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
4466735295	NC_000022.11:19049826:AAAAAAAAAAAA… NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000022.11:19049826:AAAAAAAAAAAA… NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3707940449	NC_000022.11:19049831::A	NC_000022.11:19049826:AAAAAAAAAAAA… NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4362432804	NC_000022.11:19049826::AA	NC_000022.11:19049826:AAAAAAAAAAAA… NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
4466735295	NC_000022.11:19049826:AAAAAAAAAAAA… NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000022.11:19049826:AAAAAAAAAAAA… NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4362432805, ss5310633235, ss5502546870	NC_000022.11:19049826::AAA	NC_000022.11:19049826:AAAAAAAAAAAA… NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
4466735295	NC_000022.11:19049826:AAAAAAAAAAAA… NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000022.11:19049826:AAAAAAAAAAAA… NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4362432806	NC_000022.11:19049826::AAAA	NC_000022.11:19049826:AAAAAAAAAAAA… NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
4466735295	NC_000022.11:19049826:AAAAAAAAAAAA… NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000022.11:19049826:AAAAAAAAAAAA… NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4362432807	NC_000022.11:19049826::AAAAA	NC_000022.11:19049826:AAAAAAAAAAAA… NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
4466735295	NC_000022.11:19049826:AAAAAAAAAAAA… NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000022.11:19049826:AAAAAAAAAAAA… NC_000022.11:19049826:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(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 rs538842818

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

rs538842818