Name: rs202144404
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.

rs202144404

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr9:19370455-19370467 (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)₄ / delAAA / delAA / delA / …
del(A)₄ / delAAA / delAA / delA / dupA / dupAAA / dup(A)₅
Variation Type: Indel Insertion and Deletion
Frequency: delAA=0.00005 (1/18482, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: DENND4C : 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	HTRZ	HWEP
Total	Global	18482	AAAAAAAAAAAAA=0.99995	AAAAAAAAAA=0.00000, AAAAAAAAAAA=0.00005, AAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAA=0.00000	0.999892	0.000108	0
European	Sub	14128	AAAAAAAAAAAAA=0.99993	AAAAAAAAAA=0.00000, AAAAAAAAAAA=0.00007, AAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAA=0.00000, AAAAAAAAAAAAAAAAAA=0.00000	0.999858	0.000142	0
African	Sub	2894	AAAAAAAAAAAAA=1.0000	AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	N/A
African Others	Sub	114	AAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	N/A
African American	Sub	2780	AAAAAAAAAAAAA=1.0000	AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	N/A
Asian	Sub	112	AAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	N/A
East Asian	Sub	86	AAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	N/A
Other Asian	Sub	26	AAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	N/A
Latin American 1	Sub	146	AAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	N/A
Latin American 2	Sub	606	AAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	N/A
South Asian	Sub	92	AAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	N/A
Other	Sub	504	AAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000	1.0	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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	18482	(A)₁₃=0.99995	delAAA=0.00000, delAA=0.00005, delA=0.00000, dupA=0.00000, dupAAA=0.00000, dup(A)₅=0.00000
Allele Frequency Aggregator	European	Sub	14128	(A)₁₃=0.99993	delAAA=0.00000, delAA=0.00007, delA=0.00000, dupA=0.00000, dupAAA=0.00000, dup(A)₅=0.00000
Allele Frequency Aggregator	African	Sub	2894	(A)₁₃=1.0000	delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAAA=0.0000, dup(A)₅=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	606	(A)₁₃=1.000	delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAAA=0.000, dup(A)₅=0.000
Allele Frequency Aggregator	Other	Sub	504	(A)₁₃=1.000	delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAAA=0.000, dup(A)₅=0.000
Allele Frequency Aggregator	Latin American 1	Sub	146	(A)₁₃=1.000	delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAAA=0.000, dup(A)₅=0.000
Allele Frequency Aggregator	Asian	Sub	112	(A)₁₃=1.000	delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAAA=0.000, dup(A)₅=0.000
Allele Frequency Aggregator	South Asian	Sub	92	(A)₁₃=1.00	delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAAA=0.00, dup(A)₅=0.00

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 9	NC_000009.12:g.19370464_19370467del
GRCh38.p14 chr 9	NC_000009.12:g.19370465_19370467del
GRCh38.p14 chr 9	NC_000009.12:g.19370466_19370467del
GRCh38.p14 chr 9	NC_000009.12:g.19370467del
GRCh38.p14 chr 9	NC_000009.12:g.19370467dup
GRCh38.p14 chr 9	NC_000009.12:g.19370465_19370467dup
GRCh38.p14 chr 9	NC_000009.12:g.19370463_19370467dup
GRCh37.p13 chr 9	NC_000009.11:g.19370462_19370465del
GRCh37.p13 chr 9	NC_000009.11:g.19370463_19370465del
GRCh37.p13 chr 9	NC_000009.11:g.19370464_19370465del
GRCh37.p13 chr 9	NC_000009.11:g.19370465del
GRCh37.p13 chr 9	NC_000009.11:g.19370465dup
GRCh37.p13 chr 9	NC_000009.11:g.19370463_19370465dup
GRCh37.p13 chr 9	NC_000009.11:g.19370461_19370465dup

Gene: DENND4C, DENN domain containing 4C (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
DENND4C transcript variant 3	NM_001330640.2:c.5675+477… NM_001330640.2:c.5675+477_5675+480del	N/A	Intron Variant
DENND4C transcript variant 10	NM_001386026.2:c.5429+477… NM_001386026.2:c.5429+477_5429+480del	N/A	Intron Variant
DENND4C transcript variant 11	NM_001386030.1:c.5423+477… NM_001386030.1:c.5423+477_5423+480del	N/A	Intron Variant
DENND4C transcript variant 12	NM_001386031.1:c.3980+477… NM_001386031.1:c.3980+477_3980+480del	N/A	Intron Variant
DENND4C transcript variant 8	NM_001386032.1:c.4169+477… NM_001386032.1:c.4169+477_4169+480del	N/A	Intron Variant
DENND4C transcript variant 9	NM_001386034.1:c.4169+477… NM_001386034.1:c.4169+477_4169+480del	N/A	Intron Variant
DENND4C transcript variant 13	NM_001386035.1:c.4619+477… NM_001386035.1:c.4619+477_4619+480del	N/A	Intron Variant
DENND4C transcript variant 14	NM_001386036.1:c.4493+477… NM_001386036.1:c.4493+477_4493+480del	N/A	Intron Variant
DENND4C transcript variant 15	NM_001386037.1:c.5468+477… NM_001386037.1:c.5468+477_5468+480del	N/A	Intron Variant
DENND4C transcript variant 16	NM_001386038.1:c.5636+477… NM_001386038.1:c.5636+477_5636+480del	N/A	Intron Variant
DENND4C transcript variant 17	NM_001386039.1:c.4169+477… NM_001386039.1:c.4169+477_4169+480del	N/A	Intron Variant
DENND4C transcript variant 18	NM_001386040.1:c.5657+477… NM_001386040.1:c.5657+477_5657+480del	N/A	Intron Variant
DENND4C transcript variant 19	NM_001386041.1:c.5318-129… NM_001386041.1:c.5318-1292_5318-1289del	N/A	Intron Variant
DENND4C transcript variant 20	NM_001386042.1:c.5528+477… NM_001386042.1:c.5528+477_5528+480del	N/A	Intron Variant
DENND4C transcript variant 7	NM_001386043.1:c.4967+477… NM_001386043.1:c.4967+477_4967+480del	N/A	Intron Variant
DENND4C transcript variant 6	NM_001386044.1:c.4967+477… NM_001386044.1:c.4967+477_4967+480del	N/A	Intron Variant
DENND4C transcript variant 21	NM_001386045.1:c.5675+477… NM_001386045.1:c.5675+477_5675+480del	N/A	Intron Variant
DENND4C transcript variant 22	NM_001386046.1:c.5285+477… NM_001386046.1:c.5285+477_5285+480del	N/A	Intron Variant
DENND4C transcript variant 4	NM_001386047.1:c.5675+477… NM_001386047.1:c.5675+477_5675+480del	N/A	Intron Variant
DENND4C transcript variant 5	NM_001386048.1:c.4967+477… NM_001386048.1:c.4967+477_4967+480del	N/A	Intron Variant
DENND4C transcript variant 1	NM_017925.7:c.5528+477_55… NM_017925.7:c.5528+477_5528+480del	N/A	Intron Variant
DENND4C transcript variant 2	NR_073201.4:n.	N/A	Intron Variant
DENND4C transcript variant 23	NR_169842.1:n.	N/A	Intron Variant
DENND4C transcript variant 24	NR_169843.1:n.	N/A	Intron Variant
DENND4C transcript variant 25	NR_169844.1:n.	N/A	Intron Variant
DENND4C transcript variant 26	NR_169845.1:n.	N/A	Intron Variant
DENND4C transcript variant 27	NR_169846.1:n.	N/A	Intron Variant
DENND4C transcript variant 28	NR_169847.1:n.	N/A	Intron Variant
DENND4C transcript variant 29	NR_169848.1:n.	N/A	Intron Variant
DENND4C transcript variant 30	NR_169849.1:n.	N/A	Intron Variant
DENND4C transcript variant 31	NR_169850.1:n.	N/A	Intron Variant
DENND4C transcript variant 32	NR_169851.1:n.	N/A	Intron Variant
DENND4C transcript variant 33	NR_169852.1:n.	N/A	Intron Variant
DENND4C transcript variant 34	NR_169853.1:n.	N/A	Intron Variant
DENND4C transcript variant 35	NR_169854.1:n.	N/A	Intron Variant
DENND4C transcript variant X1	XM_047423584.1:c.5528+477… XM_047423584.1:c.5528+477_5528+480del	N/A	Intron Variant
DENND4C transcript variant X2	XM_047423585.1:c.5675+477… XM_047423585.1:c.5675+477_5675+480del	N/A	Intron Variant
DENND4C transcript variant X3	XM_047423586.1:c.5321+477… XM_047423586.1:c.5321+477_5321+480del	N/A	Intron Variant
DENND4C transcript variant X4	XM_011517959.4:c.	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

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)₁₃=	del(A)₄	delAAA	delAA	delA	dupA	dupAAA	dup(A)₅
GRCh38.p14 chr 9	NC_000009.12:g.19370455_19370467=	NC_000009.12:g.19370464_19370467del	NC_000009.12:g.19370465_19370467del	NC_000009.12:g.19370466_19370467del	NC_000009.12:g.19370467del	NC_000009.12:g.19370467dup	NC_000009.12:g.19370465_19370467dup	NC_000009.12:g.19370463_19370467dup
GRCh37.p13 chr 9	NC_000009.11:g.19370453_19370465=	NC_000009.11:g.19370462_19370465del	NC_000009.11:g.19370463_19370465del	NC_000009.11:g.19370464_19370465del	NC_000009.11:g.19370465del	NC_000009.11:g.19370465dup	NC_000009.11:g.19370463_19370465dup	NC_000009.11:g.19370461_19370465dup
DENND4C transcript variant 3	NM_001330640.2:c.5675+468=	NM_001330640.2:c.5675+477_5675+480del	NM_001330640.2:c.5675+478_5675+480del	NM_001330640.2:c.5675+479_5675+480del	NM_001330640.2:c.5675+480del	NM_001330640.2:c.5675+480dup	NM_001330640.2:c.5675+478_5675+480dup	NM_001330640.2:c.5675+476_5675+480dup
DENND4C transcript variant 10	NM_001386026.2:c.5429+468=	NM_001386026.2:c.5429+477_5429+480del	NM_001386026.2:c.5429+478_5429+480del	NM_001386026.2:c.5429+479_5429+480del	NM_001386026.2:c.5429+480del	NM_001386026.2:c.5429+480dup	NM_001386026.2:c.5429+478_5429+480dup	NM_001386026.2:c.5429+476_5429+480dup
DENND4C transcript variant 11	NM_001386030.1:c.5423+468=	NM_001386030.1:c.5423+477_5423+480del	NM_001386030.1:c.5423+478_5423+480del	NM_001386030.1:c.5423+479_5423+480del	NM_001386030.1:c.5423+480del	NM_001386030.1:c.5423+480dup	NM_001386030.1:c.5423+478_5423+480dup	NM_001386030.1:c.5423+476_5423+480dup
DENND4C transcript variant 12	NM_001386031.1:c.3980+468=	NM_001386031.1:c.3980+477_3980+480del	NM_001386031.1:c.3980+478_3980+480del	NM_001386031.1:c.3980+479_3980+480del	NM_001386031.1:c.3980+480del	NM_001386031.1:c.3980+480dup	NM_001386031.1:c.3980+478_3980+480dup	NM_001386031.1:c.3980+476_3980+480dup
DENND4C transcript variant 8	NM_001386032.1:c.4169+468=	NM_001386032.1:c.4169+477_4169+480del	NM_001386032.1:c.4169+478_4169+480del	NM_001386032.1:c.4169+479_4169+480del	NM_001386032.1:c.4169+480del	NM_001386032.1:c.4169+480dup	NM_001386032.1:c.4169+478_4169+480dup	NM_001386032.1:c.4169+476_4169+480dup
DENND4C transcript variant 9	NM_001386034.1:c.4169+468=	NM_001386034.1:c.4169+477_4169+480del	NM_001386034.1:c.4169+478_4169+480del	NM_001386034.1:c.4169+479_4169+480del	NM_001386034.1:c.4169+480del	NM_001386034.1:c.4169+480dup	NM_001386034.1:c.4169+478_4169+480dup	NM_001386034.1:c.4169+476_4169+480dup
DENND4C transcript variant 13	NM_001386035.1:c.4619+468=	NM_001386035.1:c.4619+477_4619+480del	NM_001386035.1:c.4619+478_4619+480del	NM_001386035.1:c.4619+479_4619+480del	NM_001386035.1:c.4619+480del	NM_001386035.1:c.4619+480dup	NM_001386035.1:c.4619+478_4619+480dup	NM_001386035.1:c.4619+476_4619+480dup
DENND4C transcript variant 14	NM_001386036.1:c.4493+468=	NM_001386036.1:c.4493+477_4493+480del	NM_001386036.1:c.4493+478_4493+480del	NM_001386036.1:c.4493+479_4493+480del	NM_001386036.1:c.4493+480del	NM_001386036.1:c.4493+480dup	NM_001386036.1:c.4493+478_4493+480dup	NM_001386036.1:c.4493+476_4493+480dup
DENND4C transcript variant 15	NM_001386037.1:c.5468+468=	NM_001386037.1:c.5468+477_5468+480del	NM_001386037.1:c.5468+478_5468+480del	NM_001386037.1:c.5468+479_5468+480del	NM_001386037.1:c.5468+480del	NM_001386037.1:c.5468+480dup	NM_001386037.1:c.5468+478_5468+480dup	NM_001386037.1:c.5468+476_5468+480dup
DENND4C transcript variant 16	NM_001386038.1:c.5636+468=	NM_001386038.1:c.5636+477_5636+480del	NM_001386038.1:c.5636+478_5636+480del	NM_001386038.1:c.5636+479_5636+480del	NM_001386038.1:c.5636+480del	NM_001386038.1:c.5636+480dup	NM_001386038.1:c.5636+478_5636+480dup	NM_001386038.1:c.5636+476_5636+480dup
DENND4C transcript variant 17	NM_001386039.1:c.4169+468=	NM_001386039.1:c.4169+477_4169+480del	NM_001386039.1:c.4169+478_4169+480del	NM_001386039.1:c.4169+479_4169+480del	NM_001386039.1:c.4169+480del	NM_001386039.1:c.4169+480dup	NM_001386039.1:c.4169+478_4169+480dup	NM_001386039.1:c.4169+476_4169+480dup
DENND4C transcript variant 18	NM_001386040.1:c.5657+468=	NM_001386040.1:c.5657+477_5657+480del	NM_001386040.1:c.5657+478_5657+480del	NM_001386040.1:c.5657+479_5657+480del	NM_001386040.1:c.5657+480del	NM_001386040.1:c.5657+480dup	NM_001386040.1:c.5657+478_5657+480dup	NM_001386040.1:c.5657+476_5657+480dup
DENND4C transcript variant 19	NM_001386041.1:c.5318-1301=	NM_001386041.1:c.5318-1292_5318-1289del	NM_001386041.1:c.5318-1291_5318-1289del	NM_001386041.1:c.5318-1290_5318-1289del	NM_001386041.1:c.5318-1289del	NM_001386041.1:c.5318-1289dup	NM_001386041.1:c.5318-1291_5318-1289dup	NM_001386041.1:c.5318-1293_5318-1289dup
DENND4C transcript variant 20	NM_001386042.1:c.5528+468=	NM_001386042.1:c.5528+477_5528+480del	NM_001386042.1:c.5528+478_5528+480del	NM_001386042.1:c.5528+479_5528+480del	NM_001386042.1:c.5528+480del	NM_001386042.1:c.5528+480dup	NM_001386042.1:c.5528+478_5528+480dup	NM_001386042.1:c.5528+476_5528+480dup
DENND4C transcript variant 7	NM_001386043.1:c.4967+468=	NM_001386043.1:c.4967+477_4967+480del	NM_001386043.1:c.4967+478_4967+480del	NM_001386043.1:c.4967+479_4967+480del	NM_001386043.1:c.4967+480del	NM_001386043.1:c.4967+480dup	NM_001386043.1:c.4967+478_4967+480dup	NM_001386043.1:c.4967+476_4967+480dup
DENND4C transcript variant 6	NM_001386044.1:c.4967+468=	NM_001386044.1:c.4967+477_4967+480del	NM_001386044.1:c.4967+478_4967+480del	NM_001386044.1:c.4967+479_4967+480del	NM_001386044.1:c.4967+480del	NM_001386044.1:c.4967+480dup	NM_001386044.1:c.4967+478_4967+480dup	NM_001386044.1:c.4967+476_4967+480dup
DENND4C transcript variant 21	NM_001386045.1:c.5675+468=	NM_001386045.1:c.5675+477_5675+480del	NM_001386045.1:c.5675+478_5675+480del	NM_001386045.1:c.5675+479_5675+480del	NM_001386045.1:c.5675+480del	NM_001386045.1:c.5675+480dup	NM_001386045.1:c.5675+478_5675+480dup	NM_001386045.1:c.5675+476_5675+480dup
DENND4C transcript variant 22	NM_001386046.1:c.5285+468=	NM_001386046.1:c.5285+477_5285+480del	NM_001386046.1:c.5285+478_5285+480del	NM_001386046.1:c.5285+479_5285+480del	NM_001386046.1:c.5285+480del	NM_001386046.1:c.5285+480dup	NM_001386046.1:c.5285+478_5285+480dup	NM_001386046.1:c.5285+476_5285+480dup
DENND4C transcript variant 4	NM_001386047.1:c.5675+468=	NM_001386047.1:c.5675+477_5675+480del	NM_001386047.1:c.5675+478_5675+480del	NM_001386047.1:c.5675+479_5675+480del	NM_001386047.1:c.5675+480del	NM_001386047.1:c.5675+480dup	NM_001386047.1:c.5675+478_5675+480dup	NM_001386047.1:c.5675+476_5675+480dup
DENND4C transcript variant 5	NM_001386048.1:c.4967+468=	NM_001386048.1:c.4967+477_4967+480del	NM_001386048.1:c.4967+478_4967+480del	NM_001386048.1:c.4967+479_4967+480del	NM_001386048.1:c.4967+480del	NM_001386048.1:c.4967+480dup	NM_001386048.1:c.4967+478_4967+480dup	NM_001386048.1:c.4967+476_4967+480dup
DENND4C transcript variant 1	NM_017925.5:c.5528+468=	NM_017925.5:c.5528+477_5528+480del	NM_017925.5:c.5528+478_5528+480del	NM_017925.5:c.5528+479_5528+480del	NM_017925.5:c.5528+480del	NM_017925.5:c.5528+480dup	NM_017925.5:c.5528+478_5528+480dup	NM_017925.5:c.5528+476_5528+480dup
DENND4C transcript variant 1	NM_017925.7:c.5528+468=	NM_017925.7:c.5528+477_5528+480del	NM_017925.7:c.5528+478_5528+480del	NM_017925.7:c.5528+479_5528+480del	NM_017925.7:c.5528+480del	NM_017925.7:c.5528+480dup	NM_017925.7:c.5528+478_5528+480dup	NM_017925.7:c.5528+476_5528+480dup
DENND4C transcript variant X1	XM_047423584.1:c.5528+468=	XM_047423584.1:c.5528+477_5528+480del	XM_047423584.1:c.5528+478_5528+480del	XM_047423584.1:c.5528+479_5528+480del	XM_047423584.1:c.5528+480del	XM_047423584.1:c.5528+480dup	XM_047423584.1:c.5528+478_5528+480dup	XM_047423584.1:c.5528+476_5528+480dup
DENND4C transcript variant X2	XM_047423585.1:c.5675+468=	XM_047423585.1:c.5675+477_5675+480del	XM_047423585.1:c.5675+478_5675+480del	XM_047423585.1:c.5675+479_5675+480del	XM_047423585.1:c.5675+480del	XM_047423585.1:c.5675+480dup	XM_047423585.1:c.5675+478_5675+480dup	XM_047423585.1:c.5675+476_5675+480dup
DENND4C transcript variant X3	XM_047423586.1:c.5321+468=	XM_047423586.1:c.5321+477_5321+480del	XM_047423586.1:c.5321+478_5321+480del	XM_047423586.1:c.5321+479_5321+480del	XM_047423586.1:c.5321+480del	XM_047423586.1:c.5321+480dup	XM_047423586.1:c.5321+478_5321+480dup	XM_047423586.1:c.5321+476_5321+480dup

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#.

23 SubSNP, 15 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	GMI	ss288951121	May 04, 2012 (137)
2	SSIP	ss947235480	Aug 21, 2014 (142)
3	HAMMER_LAB	ss1805914181	Sep 08, 2015 (146)
4	JJLAB	ss2030955425	Sep 14, 2016 (149)
5	SWEGEN	ss3004502434	Nov 08, 2017 (151)
6	PACBIO	ss3786368855	Jul 13, 2019 (153)
7	EVA	ss3831576959	Apr 26, 2020 (154)
8	GNOMAD	ss4198838680	Apr 26, 2021 (155)
9	GNOMAD	ss4198838681	Apr 26, 2021 (155)
10	GNOMAD	ss4198838682	Apr 26, 2021 (155)
11	GNOMAD	ss4198838683	Apr 26, 2021 (155)
12	GNOMAD	ss4198838684	Apr 26, 2021 (155)
13	GNOMAD	ss4198838685	Apr 26, 2021 (155)
14	TOPMED	ss4815259378	Apr 26, 2021 (155)
15	TOPMED	ss4815259379	Apr 26, 2021 (155)
16	TOMMO_GENOMICS	ss5192417900	Apr 26, 2021 (155)
17	TOMMO_GENOMICS	ss5192417901	Apr 26, 2021 (155)
18	TOMMO_GENOMICS	ss5192417902	Apr 26, 2021 (155)
19	1000G_HIGH_COVERAGE	ss5280057065	Oct 16, 2022 (156)
20	HUGCELL_USP	ss5476308939	Oct 16, 2022 (156)
21	TOMMO_GENOMICS	ss5735561405	Oct 16, 2022 (156)
22	TOMMO_GENOMICS	ss5735561406	Oct 16, 2022 (156)
23	TOMMO_GENOMICS	ss5735561407	Oct 16, 2022 (156)
24	gnomAD - Genomes Submission ignored due to conflicting rows: Row 320286005 (NC_000009.12:19370454::A 144/117850) Row 320286006 (NC_000009.12:19370454::AAA 1/118006) Row 320286007 (NC_000009.12:19370454::AAAAA 1/118006)...	-	Apr 26, 2021 (155)
25	gnomAD - Genomes Submission ignored due to conflicting rows: Row 320286005 (NC_000009.12:19370454::A 144/117850) Row 320286006 (NC_000009.12:19370454::AAA 1/118006) Row 320286007 (NC_000009.12:19370454::AAAAA 1/118006)...	-	Apr 26, 2021 (155)
26	gnomAD - Genomes Submission ignored due to conflicting rows: Row 320286005 (NC_000009.12:19370454::A 144/117850) Row 320286006 (NC_000009.12:19370454::AAA 1/118006) Row 320286007 (NC_000009.12:19370454::AAAAA 1/118006)...	-	Apr 26, 2021 (155)
27	gnomAD - Genomes Submission ignored due to conflicting rows: Row 320286005 (NC_000009.12:19370454::A 144/117850) Row 320286006 (NC_000009.12:19370454::AAA 1/118006) Row 320286007 (NC_000009.12:19370454::AAAAA 1/118006)...	-	Apr 26, 2021 (155)
28	gnomAD - Genomes Submission ignored due to conflicting rows: Row 320286005 (NC_000009.12:19370454::A 144/117850) Row 320286006 (NC_000009.12:19370454::AAA 1/118006) Row 320286007 (NC_000009.12:19370454::AAAAA 1/118006)...	-	Apr 26, 2021 (155)
29	gnomAD - Genomes Submission ignored due to conflicting rows: Row 320286005 (NC_000009.12:19370454::A 144/117850) Row 320286006 (NC_000009.12:19370454::AAA 1/118006) Row 320286007 (NC_000009.12:19370454::AAAAA 1/118006)...	-	Apr 26, 2021 (155)
30	8.3KJPN Submission ignored due to conflicting rows: Row 50387207 (NC_000009.11:19370452:A: 80/16760) Row 50387208 (NC_000009.11:19370452::A 132/16760) Row 50387209 (NC_000009.11:19370452:AAAA: 1/16760)	-	Apr 26, 2021 (155)
31	8.3KJPN Submission ignored due to conflicting rows: Row 50387207 (NC_000009.11:19370452:A: 80/16760) Row 50387208 (NC_000009.11:19370452::A 132/16760) Row 50387209 (NC_000009.11:19370452:AAAA: 1/16760)	-	Apr 26, 2021 (155)
32	8.3KJPN Submission ignored due to conflicting rows: Row 50387207 (NC_000009.11:19370452:A: 80/16760) Row 50387208 (NC_000009.11:19370452::A 132/16760) Row 50387209 (NC_000009.11:19370452:AAAA: 1/16760)	-	Apr 26, 2021 (155)
33	14KJPN Submission ignored due to conflicting rows: Row 69398509 (NC_000009.12:19370454:A: 117/28258) Row 69398510 (NC_000009.12:19370454::A 222/28258) Row 69398511 (NC_000009.12:19370454:AAAA: 1/28258)	-	Oct 16, 2022 (156)
34	14KJPN Submission ignored due to conflicting rows: Row 69398509 (NC_000009.12:19370454:A: 117/28258) Row 69398510 (NC_000009.12:19370454::A 222/28258) Row 69398511 (NC_000009.12:19370454:AAAA: 1/28258)	-	Oct 16, 2022 (156)
35	14KJPN Submission ignored due to conflicting rows: Row 69398509 (NC_000009.12:19370454:A: 117/28258) Row 69398510 (NC_000009.12:19370454::A 222/28258) Row 69398511 (NC_000009.12:19370454:AAAA: 1/28258)	-	Oct 16, 2022 (156)
36	TopMed Submission ignored due to conflicting rows: Row 652636939 (NC_000009.12:19370454::AAAAA 1/264690) Row 652636940 (NC_000009.12:19370454:AAA: 9/264690)	-	Apr 26, 2021 (155)
37	TopMed Submission ignored due to conflicting rows: Row 652636939 (NC_000009.12:19370454::AAAAA 1/264690) Row 652636940 (NC_000009.12:19370454:AAA: 9/264690)	-	Apr 26, 2021 (155)
38	ALFA	NC_000009.12 - 19370455	Apr 26, 2021 (155)

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

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss5192417902	NC_000009.11:19370452:AAAA:	NC_000009.12:19370454:AAAAAAAAAAAA… NC_000009.12:19370454:AAAAAAAAAAAAA:AAAAAAAAA	(self)
ss5735561407	NC_000009.12:19370454:AAAA:	NC_000009.12:19370454:AAAAAAAAAAAA… NC_000009.12:19370454:AAAAAAAAAAAAA:AAAAAAAAA
ss4198838685, ss4815259379	NC_000009.12:19370454:AAA:	NC_000009.12:19370454:AAAAAAAAAAAA… NC_000009.12:19370454:AAAAAAAAAAAAA:AAAAAAAAAA	(self)
1522842484	NC_000009.12:19370454:AAAAAAAAAAAA… NC_000009.12:19370454:AAAAAAAAAAAAA:AAAAAAAAAA	NC_000009.12:19370454:AAAAAAAAAAAA… NC_000009.12:19370454:AAAAAAAAAAAAA:AAAAAAAAAA	(self)
ss4198838684	NC_000009.12:19370454:AA:	NC_000009.12:19370454:AAAAAAAAAAAA… NC_000009.12:19370454:AAAAAAAAAAAAA:AAAAAAAAAAA	(self)
1522842484	NC_000009.12:19370454:AAAAAAAAAAAA… NC_000009.12:19370454:AAAAAAAAAAAAA:AAAAAAAAAAA	NC_000009.12:19370454:AAAAAAAAAAAA… NC_000009.12:19370454:AAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss288951121	NC_000009.10:19360452:A:	NC_000009.12:19370454:AAAAAAAAAAAA… NC_000009.12:19370454:AAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss2030955425, ss3786368855, ss5192417900	NC_000009.11:19370452:A:	NC_000009.12:19370454:AAAAAAAAAAAA… NC_000009.12:19370454:AAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4198838683, ss5735561405	NC_000009.12:19370454:A:	NC_000009.12:19370454:AAAAAAAAAAAA… NC_000009.12:19370454:AAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
1522842484	NC_000009.12:19370454:AAAAAAAAAAAA… NC_000009.12:19370454:AAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000009.12:19370454:AAAAAAAAAAAA… NC_000009.12:19370454:AAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss947235480, ss1805914181, ss3004502434, ss3831576959, ss5192417901	NC_000009.11:19370452::A	NC_000009.12:19370454:AAAAAAAAAAAA… NC_000009.12:19370454:AAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4198838680, ss5280057065, ss5476308939, ss5735561406	NC_000009.12:19370454::A	NC_000009.12:19370454:AAAAAAAAAAAA… NC_000009.12:19370454:AAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
1522842484	NC_000009.12:19370454:AAAAAAAAAAAA… NC_000009.12:19370454:AAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000009.12:19370454:AAAAAAAAAAAA… NC_000009.12:19370454:AAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4198838681	NC_000009.12:19370454::AAA	NC_000009.12:19370454:AAAAAAAAAAAA… NC_000009.12:19370454:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
1522842484	NC_000009.12:19370454:AAAAAAAAAAAA… NC_000009.12:19370454:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000009.12:19370454:AAAAAAAAAAAA… NC_000009.12:19370454:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4198838682, ss4815259378	NC_000009.12:19370454::AAAAA	NC_000009.12:19370454:AAAAAAAAAAAA… NC_000009.12:19370454:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
1522842484	NC_000009.12:19370454:AAAAAAAAAAAA… NC_000009.12:19370454:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000009.12:19370454:AAAAAAAAAAAA… NC_000009.12:19370454:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(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 rs202144404

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

rs202144404