Name: rs770430499
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.

rs770430499

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr14:77807039-77807055 (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(T)₁₀ / del(T)₈ / del(T)₆ / del…
del(T)₁₀ / del(T)₈ / del(T)₆ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT
Variation Type: Indel Insertion and Deletion
Frequency: del(T)₆=0.000004 (1/264690, TOPMED)
dupT=0.01116 (161/14430, ALFA)
dupT=0.17 (7/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ADCK1 : 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	14430	TTTTTTTTTTTTTTTTT=0.98884	TTTTTTT=0.00000, TTTTTTTTT=0.00000, TTTTTTTTTTT=0.00000, TTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTT=0.01116, TTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTT=0.00000	0.979349	0.001663	0.018988	32
European	Sub	11198	TTTTTTTTTTTTTTTTT=0.98562	TTTTTTT=0.00000, TTTTTTTTT=0.00000, TTTTTTTTTTT=0.00000, TTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTT=0.01438, TTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTT=0.00000	0.973388	0.002143	0.024469	32
African	Sub	1964	TTTTTTTTTTTTTTTTT=1.0000	TTTTTTT=0.0000, TTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	76	TTTTTTTTTTTTTTTTT=1.00	TTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	1888	TTTTTTTTTTTTTTTTT=1.0000	TTTTTTT=0.0000, TTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	104	TTTTTTTTTTTTTTTTT=1.000	TTTTTTT=0.000, TTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
East Asian	Sub	80	TTTTTTTTTTTTTTTTT=1.00	TTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	24	TTTTTTTTTTTTTTTTT=1.00	TTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	126	TTTTTTTTTTTTTTTTT=1.000	TTTTTTT=0.000, TTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Latin American 2	Sub	564	TTTTTTTTTTTTTTTTT=1.000	TTTTTTT=0.000, TTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	80	TTTTTTTTTTTTTTTTT=1.00	TTTTTTT=0.00, TTTTTTTTT=0.00, TTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	394	TTTTTTTTTTTTTTTTT=1.000	TTTTTTT=0.000, TTTTTTTTT=0.000, TTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
TopMed	Global	Study-wide	264690	(T)₁₇=0.999996	del(T)₆=0.000004
Allele Frequency Aggregator	Total	Global	14430	(T)₁₇=0.98884	del(T)₁₀=0.00000, del(T)₈=0.00000, del(T)₆=0.00000, del(T)₄=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.00000, dupT=0.01116, dupTT=0.00000, dupTTT=0.00000
Allele Frequency Aggregator	European	Sub	11198	(T)₁₇=0.98562	del(T)₁₀=0.00000, del(T)₈=0.00000, del(T)₆=0.00000, del(T)₄=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.00000, dupT=0.01438, dupTT=0.00000, dupTTT=0.00000
Allele Frequency Aggregator	African	Sub	1964	(T)₁₇=1.0000	del(T)₁₀=0.0000, del(T)₈=0.0000, del(T)₆=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	564	(T)₁₇=1.000	del(T)₁₀=0.000, del(T)₈=0.000, del(T)₆=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000
Allele Frequency Aggregator	Other	Sub	394	(T)₁₇=1.000	del(T)₁₀=0.000, del(T)₈=0.000, del(T)₆=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000
Allele Frequency Aggregator	Latin American 1	Sub	126	(T)₁₇=1.000	del(T)₁₀=0.000, del(T)₈=0.000, del(T)₆=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000
Allele Frequency Aggregator	Asian	Sub	104	(T)₁₇=1.000	del(T)₁₀=0.000, del(T)₈=0.000, del(T)₆=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000
Allele Frequency Aggregator	South Asian	Sub	80	(T)₁₇=1.00	del(T)₁₀=0.00, del(T)₈=0.00, del(T)₆=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00
The Danish reference pan genome	Danish	Study-wide	40	- No frequency provided	dupT=0.17

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 14	NC_000014.9:g.77807046_77807055del
GRCh38.p14 chr 14	NC_000014.9:g.77807048_77807055del
GRCh38.p14 chr 14	NC_000014.9:g.77807050_77807055del
GRCh38.p14 chr 14	NC_000014.9:g.77807052_77807055del
GRCh38.p14 chr 14	NC_000014.9:g.77807053_77807055del
GRCh38.p14 chr 14	NC_000014.9:g.77807054_77807055del
GRCh38.p14 chr 14	NC_000014.9:g.77807055del
GRCh38.p14 chr 14	NC_000014.9:g.77807055dup
GRCh38.p14 chr 14	NC_000014.9:g.77807054_77807055dup
GRCh38.p14 chr 14	NC_000014.9:g.77807053_77807055dup
GRCh37.p13 chr 14	NC_000014.8:g.78273389_78273398del
GRCh37.p13 chr 14	NC_000014.8:g.78273391_78273398del
GRCh37.p13 chr 14	NC_000014.8:g.78273393_78273398del
GRCh37.p13 chr 14	NC_000014.8:g.78273395_78273398del
GRCh37.p13 chr 14	NC_000014.8:g.78273396_78273398del
GRCh37.p13 chr 14	NC_000014.8:g.78273397_78273398del
GRCh37.p13 chr 14	NC_000014.8:g.78273398del
GRCh37.p13 chr 14	NC_000014.8:g.78273398dup
GRCh37.p13 chr 14	NC_000014.8:g.78273397_78273398dup
GRCh37.p13 chr 14	NC_000014.8:g.78273396_78273398dup

Gene: ADCK1, aarF domain containing kinase 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ADCK1 transcript variant 2	NM_001142545.2:c.-12+6876… NM_001142545.2:c.-12+6876_-12+6885del	N/A	Intron Variant
ADCK1 transcript variant 3	NM_001366485.2:c.-12+6876… NM_001366485.2:c.-12+6876_-12+6885del	N/A	Intron Variant
ADCK1 transcript variant 4	NM_001366486.2:c.-12+6876… NM_001366486.2:c.-12+6876_-12+6885del	N/A	Intron Variant
ADCK1 transcript variant 7	NM_001366487.2:c.-12+6876… NM_001366487.2:c.-12+6876_-12+6885del	N/A	Intron Variant
ADCK1 transcript variant 9	NM_001366488.2:c.-12+6876… NM_001366488.2:c.-12+6876_-12+6885del	N/A	Intron Variant
ADCK1 transcript variant 10	NM_001366489.2:c.-12+6876… NM_001366489.2:c.-12+6876_-12+6885del	N/A	Intron Variant
ADCK1 transcript variant 11	NM_001366490.2:c.-508+687… NM_001366490.2:c.-508+6876_-508+6885del	N/A	Intron Variant
ADCK1 transcript variant 1	NM_020421.4:c.-12+6876_-1… NM_020421.4:c.-12+6876_-12+6885del	N/A	Intron Variant
ADCK1 transcript variant 5	NR_158987.2:n.	N/A	Intron Variant
ADCK1 transcript variant 6	NR_158988.2:n.	N/A	Intron Variant
ADCK1 transcript variant 8	NR_158989.2:n.	N/A	Intron Variant
ADCK1 transcript variant X4	XM_011536985.2:c.	N/A	Genic Upstream Transcript Variant
ADCK1 transcript variant X3	XM_017021477.2:c.	N/A	Genic Upstream Transcript Variant
ADCK1 transcript variant X1	XM_047431610.1:c.	N/A	Genic Upstream Transcript Variant
ADCK1 transcript variant X2	XM_047431611.1:c.	N/A	Genic 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	(T)₁₇=	del(T)₁₀	del(T)₈	del(T)₆	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT
GRCh38.p14 chr 14	NC_000014.9:g.77807039_77807055=	NC_000014.9:g.77807046_77807055del	NC_000014.9:g.77807048_77807055del	NC_000014.9:g.77807050_77807055del	NC_000014.9:g.77807052_77807055del	NC_000014.9:g.77807053_77807055del	NC_000014.9:g.77807054_77807055del	NC_000014.9:g.77807055del	NC_000014.9:g.77807055dup	NC_000014.9:g.77807054_77807055dup	NC_000014.9:g.77807053_77807055dup
GRCh37.p13 chr 14	NC_000014.8:g.78273382_78273398=	NC_000014.8:g.78273389_78273398del	NC_000014.8:g.78273391_78273398del	NC_000014.8:g.78273393_78273398del	NC_000014.8:g.78273395_78273398del	NC_000014.8:g.78273396_78273398del	NC_000014.8:g.78273397_78273398del	NC_000014.8:g.78273398del	NC_000014.8:g.78273398dup	NC_000014.8:g.78273397_78273398dup	NC_000014.8:g.78273396_78273398dup
ADCK1 transcript variant 2	NM_001142545.1:c.-12+6869=	NM_001142545.1:c.-12+6876_-12+6885del	NM_001142545.1:c.-12+6878_-12+6885del	NM_001142545.1:c.-12+6880_-12+6885del	NM_001142545.1:c.-12+6882_-12+6885del	NM_001142545.1:c.-12+6883_-12+6885del	NM_001142545.1:c.-12+6884_-12+6885del	NM_001142545.1:c.-12+6885del	NM_001142545.1:c.-12+6885dup	NM_001142545.1:c.-12+6884_-12+6885dup	NM_001142545.1:c.-12+6883_-12+6885dup
ADCK1 transcript variant 2	NM_001142545.2:c.-12+6869=	NM_001142545.2:c.-12+6876_-12+6885del	NM_001142545.2:c.-12+6878_-12+6885del	NM_001142545.2:c.-12+6880_-12+6885del	NM_001142545.2:c.-12+6882_-12+6885del	NM_001142545.2:c.-12+6883_-12+6885del	NM_001142545.2:c.-12+6884_-12+6885del	NM_001142545.2:c.-12+6885del	NM_001142545.2:c.-12+6885dup	NM_001142545.2:c.-12+6884_-12+6885dup	NM_001142545.2:c.-12+6883_-12+6885dup
ADCK1 transcript variant 3	NM_001366485.2:c.-12+6869=	NM_001366485.2:c.-12+6876_-12+6885del	NM_001366485.2:c.-12+6878_-12+6885del	NM_001366485.2:c.-12+6880_-12+6885del	NM_001366485.2:c.-12+6882_-12+6885del	NM_001366485.2:c.-12+6883_-12+6885del	NM_001366485.2:c.-12+6884_-12+6885del	NM_001366485.2:c.-12+6885del	NM_001366485.2:c.-12+6885dup	NM_001366485.2:c.-12+6884_-12+6885dup	NM_001366485.2:c.-12+6883_-12+6885dup
ADCK1 transcript variant 4	NM_001366486.2:c.-12+6869=	NM_001366486.2:c.-12+6876_-12+6885del	NM_001366486.2:c.-12+6878_-12+6885del	NM_001366486.2:c.-12+6880_-12+6885del	NM_001366486.2:c.-12+6882_-12+6885del	NM_001366486.2:c.-12+6883_-12+6885del	NM_001366486.2:c.-12+6884_-12+6885del	NM_001366486.2:c.-12+6885del	NM_001366486.2:c.-12+6885dup	NM_001366486.2:c.-12+6884_-12+6885dup	NM_001366486.2:c.-12+6883_-12+6885dup
ADCK1 transcript variant 7	NM_001366487.2:c.-12+6869=	NM_001366487.2:c.-12+6876_-12+6885del	NM_001366487.2:c.-12+6878_-12+6885del	NM_001366487.2:c.-12+6880_-12+6885del	NM_001366487.2:c.-12+6882_-12+6885del	NM_001366487.2:c.-12+6883_-12+6885del	NM_001366487.2:c.-12+6884_-12+6885del	NM_001366487.2:c.-12+6885del	NM_001366487.2:c.-12+6885dup	NM_001366487.2:c.-12+6884_-12+6885dup	NM_001366487.2:c.-12+6883_-12+6885dup
ADCK1 transcript variant 9	NM_001366488.2:c.-12+6869=	NM_001366488.2:c.-12+6876_-12+6885del	NM_001366488.2:c.-12+6878_-12+6885del	NM_001366488.2:c.-12+6880_-12+6885del	NM_001366488.2:c.-12+6882_-12+6885del	NM_001366488.2:c.-12+6883_-12+6885del	NM_001366488.2:c.-12+6884_-12+6885del	NM_001366488.2:c.-12+6885del	NM_001366488.2:c.-12+6885dup	NM_001366488.2:c.-12+6884_-12+6885dup	NM_001366488.2:c.-12+6883_-12+6885dup
ADCK1 transcript variant 10	NM_001366489.2:c.-12+6869=	NM_001366489.2:c.-12+6876_-12+6885del	NM_001366489.2:c.-12+6878_-12+6885del	NM_001366489.2:c.-12+6880_-12+6885del	NM_001366489.2:c.-12+6882_-12+6885del	NM_001366489.2:c.-12+6883_-12+6885del	NM_001366489.2:c.-12+6884_-12+6885del	NM_001366489.2:c.-12+6885del	NM_001366489.2:c.-12+6885dup	NM_001366489.2:c.-12+6884_-12+6885dup	NM_001366489.2:c.-12+6883_-12+6885dup
ADCK1 transcript variant 11	NM_001366490.2:c.-508+6869=	NM_001366490.2:c.-508+6876_-508+6885del	NM_001366490.2:c.-508+6878_-508+6885del	NM_001366490.2:c.-508+6880_-508+6885del	NM_001366490.2:c.-508+6882_-508+6885del	NM_001366490.2:c.-508+6883_-508+6885del	NM_001366490.2:c.-508+6884_-508+6885del	NM_001366490.2:c.-508+6885del	NM_001366490.2:c.-508+6885dup	NM_001366490.2:c.-508+6884_-508+6885dup	NM_001366490.2:c.-508+6883_-508+6885dup
ADCK1 transcript variant 1	NM_020421.3:c.-12+6869=	NM_020421.3:c.-12+6876_-12+6885del	NM_020421.3:c.-12+6878_-12+6885del	NM_020421.3:c.-12+6880_-12+6885del	NM_020421.3:c.-12+6882_-12+6885del	NM_020421.3:c.-12+6883_-12+6885del	NM_020421.3:c.-12+6884_-12+6885del	NM_020421.3:c.-12+6885del	NM_020421.3:c.-12+6885dup	NM_020421.3:c.-12+6884_-12+6885dup	NM_020421.3:c.-12+6883_-12+6885dup
ADCK1 transcript variant 1	NM_020421.4:c.-12+6869=	NM_020421.4:c.-12+6876_-12+6885del	NM_020421.4:c.-12+6878_-12+6885del	NM_020421.4:c.-12+6880_-12+6885del	NM_020421.4:c.-12+6882_-12+6885del	NM_020421.4:c.-12+6883_-12+6885del	NM_020421.4:c.-12+6884_-12+6885del	NM_020421.4:c.-12+6885del	NM_020421.4:c.-12+6885dup	NM_020421.4:c.-12+6884_-12+6885dup	NM_020421.4:c.-12+6883_-12+6885dup
ADCK1 transcript variant X1	XM_005267885.1:c.-12+6869=	XM_005267885.1:c.-12+6876_-12+6885del	XM_005267885.1:c.-12+6878_-12+6885del	XM_005267885.1:c.-12+6880_-12+6885del	XM_005267885.1:c.-12+6882_-12+6885del	XM_005267885.1:c.-12+6883_-12+6885del	XM_005267885.1:c.-12+6884_-12+6885del	XM_005267885.1:c.-12+6885del	XM_005267885.1:c.-12+6885dup	XM_005267885.1:c.-12+6884_-12+6885dup	XM_005267885.1:c.-12+6883_-12+6885dup
ADCK1 transcript variant X2	XM_005267886.1:c.-12+6869=	XM_005267886.1:c.-12+6876_-12+6885del	XM_005267886.1:c.-12+6878_-12+6885del	XM_005267886.1:c.-12+6880_-12+6885del	XM_005267886.1:c.-12+6882_-12+6885del	XM_005267886.1:c.-12+6883_-12+6885del	XM_005267886.1:c.-12+6884_-12+6885del	XM_005267886.1:c.-12+6885del	XM_005267886.1:c.-12+6885dup	XM_005267886.1:c.-12+6884_-12+6885dup	XM_005267886.1:c.-12+6883_-12+6885dup

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#.

27 SubSNP, 18 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	EVA_GENOME_DK	ss1574789263	Apr 01, 2015 (144)
2	SWEGEN	ss3012500415	Nov 08, 2017 (151)
3	EVA_DECODE	ss3697043515	Jul 13, 2019 (153)
4	EVA_DECODE	ss3697043517	Jul 13, 2019 (153)
5	EVA_DECODE	ss3697043518	Jul 13, 2019 (153)
6	EVA_DECODE	ss3697043519	Jul 13, 2019 (153)
7	EVA_DECODE	ss3697043520	Jul 13, 2019 (153)
8	PACBIO	ss3787717260	Jul 13, 2019 (153)
9	GNOMAD	ss4281196853	Apr 27, 2021 (155)
10	GNOMAD	ss4281196855	Apr 27, 2021 (155)
11	GNOMAD	ss4281196856	Apr 27, 2021 (155)
12	GNOMAD	ss4281196857	Apr 27, 2021 (155)
13	GNOMAD	ss4281196858	Apr 27, 2021 (155)
14	GNOMAD	ss4281196859	Apr 27, 2021 (155)
15	GNOMAD	ss4281196860	Apr 27, 2021 (155)
16	GNOMAD	ss4281196861	Apr 27, 2021 (155)
17	GNOMAD	ss4281196862	Apr 27, 2021 (155)
18	TOPMED	ss4976918659	Apr 27, 2021 (155)
19	TOMMO_GENOMICS	ss5214060842	Apr 27, 2021 (155)
20	TOMMO_GENOMICS	ss5214060843	Apr 27, 2021 (155)
21	TOMMO_GENOMICS	ss5214060844	Apr 27, 2021 (155)
22	1000G_HIGH_COVERAGE	ss5296863393	Oct 16, 2022 (156)
23	HUGCELL_USP	ss5490844969	Oct 16, 2022 (156)
24	HUGCELL_USP	ss5490844970	Oct 16, 2022 (156)
25	TOMMO_GENOMICS	ss5767108230	Oct 16, 2022 (156)
26	TOMMO_GENOMICS	ss5767108231	Oct 16, 2022 (156)
27	TOMMO_GENOMICS	ss5767108232	Oct 16, 2022 (156)
28	The Danish reference pan genome	NC_000014.8 - 78273382	Apr 27, 2020 (154)
29	gnomAD - Genomes Submission ignored due to conflicting rows: Row 456449951 (NC_000014.9:77807038::T 5454/92510) Row 456449953 (NC_000014.9:77807038::TT 25/92508) Row 456449954 (NC_000014.9:77807038::TTT 4/92608)...	-	Apr 27, 2021 (155)
30	gnomAD - Genomes Submission ignored due to conflicting rows: Row 456449951 (NC_000014.9:77807038::T 5454/92510) Row 456449953 (NC_000014.9:77807038::TT 25/92508) Row 456449954 (NC_000014.9:77807038::TTT 4/92608)...	-	Apr 27, 2021 (155)
31	gnomAD - Genomes Submission ignored due to conflicting rows: Row 456449951 (NC_000014.9:77807038::T 5454/92510) Row 456449953 (NC_000014.9:77807038::TT 25/92508) Row 456449954 (NC_000014.9:77807038::TTT 4/92608)...	-	Apr 27, 2021 (155)
32	gnomAD - Genomes Submission ignored due to conflicting rows: Row 456449951 (NC_000014.9:77807038::T 5454/92510) Row 456449953 (NC_000014.9:77807038::TT 25/92508) Row 456449954 (NC_000014.9:77807038::TTT 4/92608)...	-	Apr 27, 2021 (155)
33	gnomAD - Genomes Submission ignored due to conflicting rows: Row 456449951 (NC_000014.9:77807038::T 5454/92510) Row 456449953 (NC_000014.9:77807038::TT 25/92508) Row 456449954 (NC_000014.9:77807038::TTT 4/92608)...	-	Apr 27, 2021 (155)
34	gnomAD - Genomes Submission ignored due to conflicting rows: Row 456449951 (NC_000014.9:77807038::T 5454/92510) Row 456449953 (NC_000014.9:77807038::TT 25/92508) Row 456449954 (NC_000014.9:77807038::TTT 4/92608)...	-	Apr 27, 2021 (155)
35	gnomAD - Genomes Submission ignored due to conflicting rows: Row 456449951 (NC_000014.9:77807038::T 5454/92510) Row 456449953 (NC_000014.9:77807038::TT 25/92508) Row 456449954 (NC_000014.9:77807038::TTT 4/92608)...	-	Apr 27, 2021 (155)
36	gnomAD - Genomes Submission ignored due to conflicting rows: Row 456449951 (NC_000014.9:77807038::T 5454/92510) Row 456449953 (NC_000014.9:77807038::TT 25/92508) Row 456449954 (NC_000014.9:77807038::TTT 4/92608)...	-	Apr 27, 2021 (155)
37	gnomAD - Genomes Submission ignored due to conflicting rows: Row 456449951 (NC_000014.9:77807038::T 5454/92510) Row 456449953 (NC_000014.9:77807038::TT 25/92508) Row 456449954 (NC_000014.9:77807038::TTT 4/92608)...	-	Apr 27, 2021 (155)
38	8.3KJPN Submission ignored due to conflicting rows: Row 72030149 (NC_000014.8:78273381:TT: 26/16722) Row 72030150 (NC_000014.8:78273381:T: 40/16722) Row 72030151 (NC_000014.8:78273381::T 35/16722)	-	Apr 27, 2021 (155)
39	8.3KJPN Submission ignored due to conflicting rows: Row 72030149 (NC_000014.8:78273381:TT: 26/16722) Row 72030150 (NC_000014.8:78273381:T: 40/16722) Row 72030151 (NC_000014.8:78273381::T 35/16722)	-	Apr 27, 2021 (155)
40	8.3KJPN Submission ignored due to conflicting rows: Row 72030149 (NC_000014.8:78273381:TT: 26/16722) Row 72030150 (NC_000014.8:78273381:T: 40/16722) Row 72030151 (NC_000014.8:78273381::T 35/16722)	-	Apr 27, 2021 (155)
41	14KJPN Submission ignored due to conflicting rows: Row 100945334 (NC_000014.9:77807038:TT: 30/26888) Row 100945335 (NC_000014.9:77807038:T: 47/26888) Row 100945336 (NC_000014.9:77807038::T 49/26888)	-	Oct 16, 2022 (156)
42	14KJPN Submission ignored due to conflicting rows: Row 100945334 (NC_000014.9:77807038:TT: 30/26888) Row 100945335 (NC_000014.9:77807038:T: 47/26888) Row 100945336 (NC_000014.9:77807038::T 49/26888)	-	Oct 16, 2022 (156)
43	14KJPN Submission ignored due to conflicting rows: Row 100945334 (NC_000014.9:77807038:TT: 30/26888) Row 100945335 (NC_000014.9:77807038:T: 47/26888) Row 100945336 (NC_000014.9:77807038::T 49/26888)	-	Oct 16, 2022 (156)
44	TopMed	NC_000014.9 - 77807039	Apr 27, 2021 (155)
45	ALFA	NC_000014.9 - 77807039	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
ss4281196862	NC_000014.9:77807038:TTTTTTTTTT:	NC_000014.9:77807038:TTTTTTTTTTTTT… NC_000014.9:77807038:TTTTTTTTTTTTTTTTT:TTTTTTT	(self)
3906798207	NC_000014.9:77807038:TTTTTTTTTTTTT… NC_000014.9:77807038:TTTTTTTTTTTTTTTTT:TTTTTTT	NC_000014.9:77807038:TTTTTTTTTTTTT… NC_000014.9:77807038:TTTTTTTTTTTTTTTTT:TTTTTTT	(self)
3906798207	NC_000014.9:77807038:TTTTTTTTTTTTT… NC_000014.9:77807038:TTTTTTTTTTTTTTTTT:TTTTTTTTT	NC_000014.9:77807038:TTTTTTTTTTTTT… NC_000014.9:77807038:TTTTTTTTTTTTTTTTT:TTTTTTTTT	(self)
192464318, ss4281196861, ss4976918659	NC_000014.9:77807038:TTTTTT:	NC_000014.9:77807038:TTTTTTTTTTTTT… NC_000014.9:77807038:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
3906798207	NC_000014.9:77807038:TTTTTTTTTTTTT… NC_000014.9:77807038:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000014.9:77807038:TTTTTTTTTTTTT… NC_000014.9:77807038:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss4281196860	NC_000014.9:77807038:TTTT:	NC_000014.9:77807038:TTTTTTTTTTTTT… NC_000014.9:77807038:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
3906798207	NC_000014.9:77807038:TTTTTTTTTTTTT… NC_000014.9:77807038:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000014.9:77807038:TTTTTTTTTTTTT… NC_000014.9:77807038:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss3697043515, ss4281196859	NC_000014.9:77807038:TTT:	NC_000014.9:77807038:TTTTTTTTTTTTT… NC_000014.9:77807038:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
3906798207	NC_000014.9:77807038:TTTTTTTTTTTTT… NC_000014.9:77807038:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000014.9:77807038:TTTTTTTTTTTTT… NC_000014.9:77807038:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss5214060842	NC_000014.8:78273381:TT:	NC_000014.9:77807038:TTTTTTTTTTTTT… NC_000014.9:77807038:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss4281196858, ss5767108230	NC_000014.9:77807038:TT:	NC_000014.9:77807038:TTTTTTTTTTTTT… NC_000014.9:77807038:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
3906798207	NC_000014.9:77807038:TTTTTTTTTTTTT… NC_000014.9:77807038:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000014.9:77807038:TTTTTTTTTTTTT… NC_000014.9:77807038:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3697043517	NC_000014.9:77807039:TT:	NC_000014.9:77807038:TTTTTTTTTTTTT… NC_000014.9:77807038:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3787717260, ss5214060843	NC_000014.8:78273381:T:	NC_000014.9:77807038:TTTTTTTTTTTTT… NC_000014.9:77807038:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4281196857, ss5490844970, ss5767108231	NC_000014.9:77807038:T:	NC_000014.9:77807038:TTTTTTTTTTTTT… NC_000014.9:77807038:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
3906798207	NC_000014.9:77807038:TTTTTTTTTTTTT… NC_000014.9:77807038:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000014.9:77807038:TTTTTTTTTTTTT… NC_000014.9:77807038:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3697043518	NC_000014.9:77807040:T:	NC_000014.9:77807038:TTTTTTTTTTTTT… NC_000014.9:77807038:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
462641, ss1574789263, ss3012500415, ss5214060844	NC_000014.8:78273381::T	NC_000014.9:77807038:TTTTTTTTTTTTT… NC_000014.9:77807038:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4281196853, ss5296863393, ss5490844969, ss5767108232	NC_000014.9:77807038::T	NC_000014.9:77807038:TTTTTTTTTTTTT… NC_000014.9:77807038:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
3906798207	NC_000014.9:77807038:TTTTTTTTTTTTT… NC_000014.9:77807038:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000014.9:77807038:TTTTTTTTTTTTT… NC_000014.9:77807038:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3697043519	NC_000014.9:77807041::T	NC_000014.9:77807038:TTTTTTTTTTTTT… NC_000014.9:77807038:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4281196855	NC_000014.9:77807038::TT	NC_000014.9:77807038:TTTTTTTTTTTTT… NC_000014.9:77807038:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
3906798207	NC_000014.9:77807038:TTTTTTTTTTTTT… NC_000014.9:77807038:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000014.9:77807038:TTTTTTTTTTTTT… NC_000014.9:77807038:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss3697043520	NC_000014.9:77807041::TT	NC_000014.9:77807038:TTTTTTTTTTTTT… NC_000014.9:77807038:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4281196856	NC_000014.9:77807038::TTT	NC_000014.9:77807038:TTTTTTTTTTTTT… NC_000014.9:77807038:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
3906798207	NC_000014.9:77807038:TTTTTTTTTTTTT… NC_000014.9:77807038:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000014.9:77807038:TTTTTTTTTTTTT… NC_000014.9:77807038:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(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 rs770430499

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

rs770430499