Name: rs71606648
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.

rs71606648

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr5:60884524-60884537 (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: delTTT / delTT / delT / dupT / dup…
delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₅ / dup(T)₆ / dup(T)₇ / dup(T)₈ / dup(T)₉ / dup(T)₁₀ / dup(T)₁₁ / dup(T)₁₂ / dup(T)₁₃ / dup(T)₁₄ / ins(T)₁₈ / ins(T)₁₉ / ins(T)₂₀ / ins(T)₂₆ / ins(T)₂₇ / ins(T)₂₈
Variation Type: Indel Insertion and Deletion
Frequency: delT=0.2656 (1481/5576, ALFA)
(T)₁₄=0.4357 (2182/5008, 1000G)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ERCC8 : 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	5576	TTTTTTTTTTTTTT=0.4736	TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.2656, TTTTTTTTTTTTTTTTT=0.1614, TTTTTTTTTTTTTTT=0.0898, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0050, TTTTTTTTTTTTTTTTTTTT=0.0039, TTTTTTTTTTTTTTTTTTT=0.0005, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000	0.548599	0.178891	0.27251	32
European	Sub	4932	TTTTTTTTTTTTTT=0.4063	TTTTTTTTTTT=0.0000, TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTT=0.2995, TTTTTTTTTTTTTTTTT=0.1821, TTTTTTTTTTTTTTT=0.1014, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0057, TTTTTTTTTTTTTTTTTTTT=0.0045, TTTTTTTTTTTTTTTTTTT=0.0006, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000	0.443626	0.220339	0.336035	32
African	Sub	482	TTTTTTTTTTTTTT=1.000	TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
African Others	Sub	18	TTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	464	TTTTTTTTTTTTTT=1.000	TTTTTTTTTTT=0.000, TTTTTTTTTTTT=0.000, TTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
Asian	Sub	6	TTTTTTTTTTTTTT=1.0	TTTTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
East Asian	Sub	6	TTTTTTTTTTTTTT=1.0	TTTTTTTTTTT=0.0, TTTTTTTTTTTT=0.0, TTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Other Asian	Sub	0	TTTTTTTTTTTTTT=0	TTTTTTTTTTT=0, TTTTTTTTTTTT=0, TTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Latin American 1	Sub	18	TTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	66	TTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	14	TTTTTTTTTTTTTT=1.00	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	58	TTTTTTTTTTTTTT=0.88	TTTTTTTTTTT=0.00, TTTTTTTTTTTT=0.00, TTTTTTTTTTTTT=0.07, TTTTTTTTTTTTTTTTT=0.03, TTTTTTTTTTTTTTT=0.02, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00	0.925926	0.037037	0.037037	7

Frequency tab displays a table of the reference and alternate allele frequencies reported by various studies and populations. Table lines, where Population="Global" refer to the entire study population, whereas lines, where Group="Sub", refer to a study-specific population subgroupings (i.e. AFR, CAU, etc.), if available. Frequency for the alternate allele (Alt Allele) is a ratio of samples observed-to-total, where the numerator (observed samples) is the number of chromosomes in the study with the minor allele present (found in "Sample size", where Group="Sub"), and the denominator (total samples) is the total number of all chromosomes in the study for the variant (found in "Sample size", where Group="Study-wide" and Population="Global").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	5576	(T)₁₄=0.4736	delTTT=0.0000, delTT=0.0000, delT=0.2656, dupT=0.0898, dupTT=0.0000, dupTTT=0.1614, dup(T)₄=0.0000, dup(T)₅=0.0005, dup(T)₆=0.0039, dup(T)₁₁=0.0050
Allele Frequency Aggregator	European	Sub	4932	(T)₁₄=0.4063	delTTT=0.0000, delTT=0.0000, delT=0.2995, dupT=0.1014, dupTT=0.0000, dupTTT=0.1821, dup(T)₄=0.0000, dup(T)₅=0.0006, dup(T)₆=0.0045, dup(T)₁₁=0.0057
Allele Frequency Aggregator	African	Sub	482	(T)₁₄=1.000	delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000, dup(T)₆=0.000, dup(T)₁₁=0.000
Allele Frequency Aggregator	Latin American 2	Sub	66	(T)₁₄=1.00	delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00, dup(T)₆=0.00, dup(T)₁₁=0.00
Allele Frequency Aggregator	Other	Sub	58	(T)₁₄=0.88	delTTT=0.00, delTT=0.00, delT=0.07, dupT=0.02, dupTT=0.00, dupTTT=0.03, dup(T)₄=0.00, dup(T)₅=0.00, dup(T)₆=0.00, dup(T)₁₁=0.00
Allele Frequency Aggregator	Latin American 1	Sub	18	(T)₁₄=1.00	delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00, dup(T)₆=0.00, dup(T)₁₁=0.00
Allele Frequency Aggregator	South Asian	Sub	14	(T)₁₄=1.00	delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00, dup(T)₆=0.00, dup(T)₁₁=0.00
Allele Frequency Aggregator	Asian	Sub	6	(T)₁₄=1.0	delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dupTTT=0.0, dup(T)₄=0.0, dup(T)₅=0.0, dup(T)₆=0.0, dup(T)₁₁=0.0
1000Genomes	Global	Study-wide	5008	(T)₁₄=0.4357	delT=0.5643
1000Genomes	African	Sub	1322	(T)₁₄=0.7504	delT=0.2496
1000Genomes	East Asian	Sub	1008	(T)₁₄=0.1776	delT=0.8224
1000Genomes	Europe	Sub	1006	(T)₁₄=0.3290	delT=0.6710
1000Genomes	South Asian	Sub	978	(T)₁₄=0.417	delT=0.583
1000Genomes	American	Sub	694	(T)₁₄=0.392	delT=0.608

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 5	NC_000005.10:g.60884535_60884537del
GRCh38.p14 chr 5	NC_000005.10:g.60884536_60884537del
GRCh38.p14 chr 5	NC_000005.10:g.60884537del
GRCh38.p14 chr 5	NC_000005.10:g.60884537dup
GRCh38.p14 chr 5	NC_000005.10:g.60884536_60884537dup
GRCh38.p14 chr 5	NC_000005.10:g.60884535_60884537dup
GRCh38.p14 chr 5	NC_000005.10:g.60884534_60884537dup
GRCh38.p14 chr 5	NC_000005.10:g.60884533_60884537dup
GRCh38.p14 chr 5	NC_000005.10:g.60884532_60884537dup
GRCh38.p14 chr 5	NC_000005.10:g.60884531_60884537dup
GRCh38.p14 chr 5	NC_000005.10:g.60884530_60884537dup
GRCh38.p14 chr 5	NC_000005.10:g.60884529_60884537dup
GRCh38.p14 chr 5	NC_000005.10:g.60884528_60884537dup
GRCh38.p14 chr 5	NC_000005.10:g.60884527_60884537dup
GRCh38.p14 chr 5	NC_000005.10:g.60884526_60884537dup
GRCh38.p14 chr 5	NC_000005.10:g.60884525_60884537dup
GRCh38.p14 chr 5	NC_000005.10:g.60884524_60884537dup
GRCh38.p14 chr 5	NC_000005.10:g.60884537_60884538insTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 5	NC_000005.10:g.60884537_60884538insTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 5	NC_000005.10:g.60884537_60884538insTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 5	NC_000005.10:g.60884537_60884538insTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 5	NC_000005.10:g.60884537_60884538insTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 5	NC_000005.10:g.60884537_60884538insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 5	NC_000005.9:g.60180362_60180364del
GRCh37.p13 chr 5	NC_000005.9:g.60180363_60180364del
GRCh37.p13 chr 5	NC_000005.9:g.60180364del
GRCh37.p13 chr 5	NC_000005.9:g.60180364dup
GRCh37.p13 chr 5	NC_000005.9:g.60180363_60180364dup
GRCh37.p13 chr 5	NC_000005.9:g.60180362_60180364dup
GRCh37.p13 chr 5	NC_000005.9:g.60180361_60180364dup
GRCh37.p13 chr 5	NC_000005.9:g.60180360_60180364dup
GRCh37.p13 chr 5	NC_000005.9:g.60180359_60180364dup
GRCh37.p13 chr 5	NC_000005.9:g.60180358_60180364dup
GRCh37.p13 chr 5	NC_000005.9:g.60180357_60180364dup
GRCh37.p13 chr 5	NC_000005.9:g.60180356_60180364dup
GRCh37.p13 chr 5	NC_000005.9:g.60180355_60180364dup
GRCh37.p13 chr 5	NC_000005.9:g.60180354_60180364dup
GRCh37.p13 chr 5	NC_000005.9:g.60180353_60180364dup
GRCh37.p13 chr 5	NC_000005.9:g.60180352_60180364dup
GRCh37.p13 chr 5	NC_000005.9:g.60180351_60180364dup
GRCh37.p13 chr 5	NC_000005.9:g.60180364_60180365insTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 5	NC_000005.9:g.60180364_60180365insTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 5	NC_000005.9:g.60180364_60180365insTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 5	NC_000005.9:g.60180364_60180365insTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 5	NC_000005.9:g.60180364_60180365insTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 5	NC_000005.9:g.60180364_60180365insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ERCC8 RefSeqGene (LRG_466)	NG_009289.1:g.65553_65555del
ERCC8 RefSeqGene (LRG_466)	NG_009289.1:g.65554_65555del
ERCC8 RefSeqGene (LRG_466)	NG_009289.1:g.65555del
ERCC8 RefSeqGene (LRG_466)	NG_009289.1:g.65555dup
ERCC8 RefSeqGene (LRG_466)	NG_009289.1:g.65554_65555dup
ERCC8 RefSeqGene (LRG_466)	NG_009289.1:g.65553_65555dup
ERCC8 RefSeqGene (LRG_466)	NG_009289.1:g.65552_65555dup
ERCC8 RefSeqGene (LRG_466)	NG_009289.1:g.65551_65555dup
ERCC8 RefSeqGene (LRG_466)	NG_009289.1:g.65550_65555dup
ERCC8 RefSeqGene (LRG_466)	NG_009289.1:g.65549_65555dup
ERCC8 RefSeqGene (LRG_466)	NG_009289.1:g.65548_65555dup
ERCC8 RefSeqGene (LRG_466)	NG_009289.1:g.65547_65555dup
ERCC8 RefSeqGene (LRG_466)	NG_009289.1:g.65546_65555dup
ERCC8 RefSeqGene (LRG_466)	NG_009289.1:g.65545_65555dup
ERCC8 RefSeqGene (LRG_466)	NG_009289.1:g.65544_65555dup
ERCC8 RefSeqGene (LRG_466)	NG_009289.1:g.65543_65555dup
ERCC8 RefSeqGene (LRG_466)	NG_009289.1:g.65542_65555dup
ERCC8 RefSeqGene (LRG_466)	NG_009289.1:g.65555_65556insAAAAAAAAAAAAAAAAAA
ERCC8 RefSeqGene (LRG_466)	NG_009289.1:g.65555_65556insAAAAAAAAAAAAAAAAAAA
ERCC8 RefSeqGene (LRG_466)	NG_009289.1:g.65555_65556insAAAAAAAAAAAAAAAAAAAA
ERCC8 RefSeqGene (LRG_466)	NG_009289.1:g.65555_65556insAAAAAAAAAAAAAAAAAAAAAAAAAA
ERCC8 RefSeqGene (LRG_466)	NG_009289.1:g.65555_65556insAAAAAAAAAAAAAAAAAAAAAAAAAAA
ERCC8 RefSeqGene (LRG_466)	NG_009289.1:g.65555_65556insAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Gene: ERCC8, ERCC excision repair 8, CSA ubiquitin ligase complex subunit (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ERCC8 transcript variant 1	NM_000082.4:c.1122+2914_1… NM_000082.4:c.1122+2914_1122+2916del	N/A	Intron Variant
ERCC8 transcript variant 2	NM_001007233.3:c.948+2914… NM_001007233.3:c.948+2914_948+2916del	N/A	Intron Variant
ERCC8 transcript variant 4	NM_001290285.2:c.663+2914… NM_001290285.2:c.663+2914_663+2916del	N/A	Intron Variant
ERCC8 transcript variant 3	NM_001007234.3: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	(T)₁₄=	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₅	dup(T)₆	dup(T)₇	dup(T)₈	dup(T)₉	dup(T)₁₀	dup(T)₁₁	dup(T)₁₂	dup(T)₁₃	dup(T)₁₄	ins(T)₁₈	ins(T)₁₉	ins(T)₂₀	ins(T)₂₆	ins(T)₂₇	ins(T)₂₈
GRCh38.p14 chr 5	NC_000005.10:g.60884524_60884537=	NC_000005.10:g.60884535_60884537del	NC_000005.10:g.60884536_60884537del	NC_000005.10:g.60884537del	NC_000005.10:g.60884537dup	NC_000005.10:g.60884536_60884537dup	NC_000005.10:g.60884535_60884537dup	NC_000005.10:g.60884534_60884537dup	NC_000005.10:g.60884533_60884537dup	NC_000005.10:g.60884532_60884537dup	NC_000005.10:g.60884531_60884537dup	NC_000005.10:g.60884530_60884537dup	NC_000005.10:g.60884529_60884537dup	NC_000005.10:g.60884528_60884537dup	NC_000005.10:g.60884527_60884537dup	NC_000005.10:g.60884526_60884537dup	NC_000005.10:g.60884525_60884537dup	NC_000005.10:g.60884524_60884537dup	NC_000005.10:g.60884537_60884538insTTTTTTTTTTTTTTTTTT	NC_000005.10:g.60884537_60884538insTTTTTTTTTTTTTTTTTTT	NC_000005.10:g.60884537_60884538insTTTTTTTTTTTTTTTTTTTT	NC_000005.10:g.60884537_60884538insTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000005.10:g.60884537_60884538insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000005.10:g.60884537_60884538insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 5	NC_000005.9:g.60180351_60180364=	NC_000005.9:g.60180362_60180364del	NC_000005.9:g.60180363_60180364del	NC_000005.9:g.60180364del	NC_000005.9:g.60180364dup	NC_000005.9:g.60180363_60180364dup	NC_000005.9:g.60180362_60180364dup	NC_000005.9:g.60180361_60180364dup	NC_000005.9:g.60180360_60180364dup	NC_000005.9:g.60180359_60180364dup	NC_000005.9:g.60180358_60180364dup	NC_000005.9:g.60180357_60180364dup	NC_000005.9:g.60180356_60180364dup	NC_000005.9:g.60180355_60180364dup	NC_000005.9:g.60180354_60180364dup	NC_000005.9:g.60180353_60180364dup	NC_000005.9:g.60180352_60180364dup	NC_000005.9:g.60180351_60180364dup	NC_000005.9:g.60180364_60180365insTTTTTTTTTTTTTTTTTT	NC_000005.9:g.60180364_60180365insTTTTTTTTTTTTTTTTTTT	NC_000005.9:g.60180364_60180365insTTTTTTTTTTTTTTTTTTTT	NC_000005.9:g.60180364_60180365insTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000005.9:g.60180364_60180365insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000005.9:g.60180364_60180365insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
ERCC8 RefSeqGene (LRG_466)	NG_009289.1:g.65542_65555=	NG_009289.1:g.65553_65555del	NG_009289.1:g.65554_65555del	NG_009289.1:g.65555del	NG_009289.1:g.65555dup	NG_009289.1:g.65554_65555dup	NG_009289.1:g.65553_65555dup	NG_009289.1:g.65552_65555dup	NG_009289.1:g.65551_65555dup	NG_009289.1:g.65550_65555dup	NG_009289.1:g.65549_65555dup	NG_009289.1:g.65548_65555dup	NG_009289.1:g.65547_65555dup	NG_009289.1:g.65546_65555dup	NG_009289.1:g.65545_65555dup	NG_009289.1:g.65544_65555dup	NG_009289.1:g.65543_65555dup	NG_009289.1:g.65542_65555dup	NG_009289.1:g.65555_65556insAAAAAAAAAAAAAAAAAA	NG_009289.1:g.65555_65556insAAAAAAAAAAAAAAAAAAA	NG_009289.1:g.65555_65556insAAAAAAAAAAAAAAAAAAAA	NG_009289.1:g.65555_65556insAAAAAAAAAAAAAAAAAAAAAAAAAA	NG_009289.1:g.65555_65556insAAAAAAAAAAAAAAAAAAAAAAAAAAA	NG_009289.1:g.65555_65556insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
ERCC8 transcript variant 1	NM_000082.3:c.1122+2916=	NM_000082.3:c.1122+2914_1122+2916del	NM_000082.3:c.1122+2915_1122+2916del	NM_000082.3:c.1122+2916del	NM_000082.3:c.1122+2916dup	NM_000082.3:c.1122+2915_1122+2916dup	NM_000082.3:c.1122+2914_1122+2916dup	NM_000082.3:c.1122+2913_1122+2916dup	NM_000082.3:c.1122+2912_1122+2916dup	NM_000082.3:c.1122+2911_1122+2916dup	NM_000082.3:c.1122+2910_1122+2916dup	NM_000082.3:c.1122+2909_1122+2916dup	NM_000082.3:c.1122+2908_1122+2916dup	NM_000082.3:c.1122+2907_1122+2916dup	NM_000082.3:c.1122+2906_1122+2916dup	NM_000082.3:c.1122+2905_1122+2916dup	NM_000082.3:c.1122+2904_1122+2916dup	NM_000082.3:c.1122+2903_1122+2916dup	NM_000082.3:c.1122+2916_1122+2917insAAAAAAAAAAAAAAAAAA	NM_000082.3:c.1122+2916_1122+2917insAAAAAAAAAAAAAAAAAAA	NM_000082.3:c.1122+2916_1122+2917insAAAAAAAAAAAAAAAAAAAA	NM_000082.3:c.1122+2916_1122+2917insAAAAAAAAAAAAAAAAAAAAAAAAAA	NM_000082.3:c.1122+2916_1122+2917insAAAAAAAAAAAAAAAAAAAAAAAAAAA	NM_000082.3:c.1122+2916_1122+2917insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
ERCC8 transcript variant 1	NM_000082.4:c.1122+2916=	NM_000082.4:c.1122+2914_1122+2916del	NM_000082.4:c.1122+2915_1122+2916del	NM_000082.4:c.1122+2916del	NM_000082.4:c.1122+2916dup	NM_000082.4:c.1122+2915_1122+2916dup	NM_000082.4:c.1122+2914_1122+2916dup	NM_000082.4:c.1122+2913_1122+2916dup	NM_000082.4:c.1122+2912_1122+2916dup	NM_000082.4:c.1122+2911_1122+2916dup	NM_000082.4:c.1122+2910_1122+2916dup	NM_000082.4:c.1122+2909_1122+2916dup	NM_000082.4:c.1122+2908_1122+2916dup	NM_000082.4:c.1122+2907_1122+2916dup	NM_000082.4:c.1122+2906_1122+2916dup	NM_000082.4:c.1122+2905_1122+2916dup	NM_000082.4:c.1122+2904_1122+2916dup	NM_000082.4:c.1122+2903_1122+2916dup	NM_000082.4:c.1122+2916_1122+2917insAAAAAAAAAAAAAAAAAA	NM_000082.4:c.1122+2916_1122+2917insAAAAAAAAAAAAAAAAAAA	NM_000082.4:c.1122+2916_1122+2917insAAAAAAAAAAAAAAAAAAAA	NM_000082.4:c.1122+2916_1122+2917insAAAAAAAAAAAAAAAAAAAAAAAAAA	NM_000082.4:c.1122+2916_1122+2917insAAAAAAAAAAAAAAAAAAAAAAAAAAA	NM_000082.4:c.1122+2916_1122+2917insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
ERCC8 transcript variant 2	NM_001007233.3:c.948+2916=	NM_001007233.3:c.948+2914_948+2916del	NM_001007233.3:c.948+2915_948+2916del	NM_001007233.3:c.948+2916del	NM_001007233.3:c.948+2916dup	NM_001007233.3:c.948+2915_948+2916dup	NM_001007233.3:c.948+2914_948+2916dup	NM_001007233.3:c.948+2913_948+2916dup	NM_001007233.3:c.948+2912_948+2916dup	NM_001007233.3:c.948+2911_948+2916dup	NM_001007233.3:c.948+2910_948+2916dup	NM_001007233.3:c.948+2909_948+2916dup	NM_001007233.3:c.948+2908_948+2916dup	NM_001007233.3:c.948+2907_948+2916dup	NM_001007233.3:c.948+2906_948+2916dup	NM_001007233.3:c.948+2905_948+2916dup	NM_001007233.3:c.948+2904_948+2916dup	NM_001007233.3:c.948+2903_948+2916dup	NM_001007233.3:c.948+2916_948+2917insAAAAAAAAAAAAAAAAAA	NM_001007233.3:c.948+2916_948+2917insAAAAAAAAAAAAAAAAAAA	NM_001007233.3:c.948+2916_948+2917insAAAAAAAAAAAAAAAAAAAA	NM_001007233.3:c.948+2916_948+2917insAAAAAAAAAAAAAAAAAAAAAAAAAA	NM_001007233.3:c.948+2916_948+2917insAAAAAAAAAAAAAAAAAAAAAAAAAAA	NM_001007233.3:c.948+2916_948+2917insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
ERCC8 transcript variant 4	NM_001290285.2:c.663+2916=	NM_001290285.2:c.663+2914_663+2916del	NM_001290285.2:c.663+2915_663+2916del	NM_001290285.2:c.663+2916del	NM_001290285.2:c.663+2916dup	NM_001290285.2:c.663+2915_663+2916dup	NM_001290285.2:c.663+2914_663+2916dup	NM_001290285.2:c.663+2913_663+2916dup	NM_001290285.2:c.663+2912_663+2916dup	NM_001290285.2:c.663+2911_663+2916dup	NM_001290285.2:c.663+2910_663+2916dup	NM_001290285.2:c.663+2909_663+2916dup	NM_001290285.2:c.663+2908_663+2916dup	NM_001290285.2:c.663+2907_663+2916dup	NM_001290285.2:c.663+2906_663+2916dup	NM_001290285.2:c.663+2905_663+2916dup	NM_001290285.2:c.663+2904_663+2916dup	NM_001290285.2:c.663+2903_663+2916dup	NM_001290285.2:c.663+2916_663+2917insAAAAAAAAAAAAAAAAAA	NM_001290285.2:c.663+2916_663+2917insAAAAAAAAAAAAAAAAAAA	NM_001290285.2:c.663+2916_663+2917insAAAAAAAAAAAAAAAAAAAA	NM_001290285.2:c.663+2916_663+2917insAAAAAAAAAAAAAAAAAAAAAAAAAA	NM_001290285.2:c.663+2916_663+2917insAAAAAAAAAAAAAAAAAAAAAAAAAAA	NM_001290285.2:c.663+2916_663+2917insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
ERCC8 transcript variant X1	XM_005248423.1:c.924+2916=	XM_005248423.1:c.924+2914_924+2916del	XM_005248423.1:c.924+2915_924+2916del	XM_005248423.1:c.924+2916del	XM_005248423.1:c.924+2916dup	XM_005248423.1:c.924+2915_924+2916dup	XM_005248423.1:c.924+2914_924+2916dup	XM_005248423.1:c.924+2913_924+2916dup	XM_005248423.1:c.924+2912_924+2916dup	XM_005248423.1:c.924+2911_924+2916dup	XM_005248423.1:c.924+2910_924+2916dup	XM_005248423.1:c.924+2909_924+2916dup	XM_005248423.1:c.924+2908_924+2916dup	XM_005248423.1:c.924+2907_924+2916dup	XM_005248423.1:c.924+2906_924+2916dup	XM_005248423.1:c.924+2905_924+2916dup	XM_005248423.1:c.924+2904_924+2916dup	XM_005248423.1:c.924+2903_924+2916dup	XM_005248423.1:c.924+2916_924+2917insAAAAAAAAAAAAAAAAAA	XM_005248423.1:c.924+2916_924+2917insAAAAAAAAAAAAAAAAAAA	XM_005248423.1:c.924+2916_924+2917insAAAAAAAAAAAAAAAAAAAA	XM_005248423.1:c.924+2916_924+2917insAAAAAAAAAAAAAAAAAAAAAAAAAA	XM_005248423.1:c.924+2916_924+2917insAAAAAAAAAAAAAAAAAAAAAAAAAAA	XM_005248423.1:c.924+2916_924+2917insAAAAAAAAAAAAAAAAAAAAAAAAAAAA
ERCC8 transcript variant X2	XM_005248424.1:c.663+2916=	XM_005248424.1:c.663+2914_663+2916del	XM_005248424.1:c.663+2915_663+2916del	XM_005248424.1:c.663+2916del	XM_005248424.1:c.663+2916dup	XM_005248424.1:c.663+2915_663+2916dup	XM_005248424.1:c.663+2914_663+2916dup	XM_005248424.1:c.663+2913_663+2916dup	XM_005248424.1:c.663+2912_663+2916dup	XM_005248424.1:c.663+2911_663+2916dup	XM_005248424.1:c.663+2910_663+2916dup	XM_005248424.1:c.663+2909_663+2916dup	XM_005248424.1:c.663+2908_663+2916dup	XM_005248424.1:c.663+2907_663+2916dup	XM_005248424.1:c.663+2906_663+2916dup	XM_005248424.1:c.663+2905_663+2916dup	XM_005248424.1:c.663+2904_663+2916dup	XM_005248424.1:c.663+2903_663+2916dup	XM_005248424.1:c.663+2916_663+2917insAAAAAAAAAAAAAAAAAA	XM_005248424.1:c.663+2916_663+2917insAAAAAAAAAAAAAAAAAAA	XM_005248424.1:c.663+2916_663+2917insAAAAAAAAAAAAAAAAAAAA	XM_005248424.1:c.663+2916_663+2917insAAAAAAAAAAAAAAAAAAAAAAAAAA	XM_005248424.1:c.663+2916_663+2917insAAAAAAAAAAAAAAAAAAAAAAAAAAA	XM_005248424.1:c.663+2916_663+2917insAAAAAAAAAAAAAAAAAAAAAAAAAAAA

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#.

71 SubSNP, 41 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HUMANGENOME_JCVI	ss98676956	Feb 13, 2009 (130)
2	GMI	ss288632989	May 04, 2012 (137)
3	SSMP	ss663613005	Apr 01, 2015 (144)
4	BILGI_BIOE	ss666311771	Apr 25, 2013 (138)
5	1000GENOMES	ss1373861883	Aug 21, 2014 (142)
6	EVA_UK10K_ALSPAC	ss1704688586	Apr 01, 2015 (144)
7	EVA_UK10K_TWINSUK	ss1704688639	Apr 01, 2015 (144)
8	EVA_UK10K_TWINSUK	ss1710210671	Apr 01, 2015 (144)
9	EVA_UK10K_ALSPAC	ss1710210679	Apr 01, 2015 (144)
10	SWEGEN	ss2997000832	Nov 08, 2017 (151)
11	URBANLAB	ss3648070354	Oct 12, 2018 (152)
12	EVA_DECODE	ss3714766083	Jul 13, 2019 (153)
13	EVA_DECODE	ss3714766084	Jul 13, 2019 (153)
14	EVA_DECODE	ss3714766085	Jul 13, 2019 (153)
15	EVA_DECODE	ss3714766086	Jul 13, 2019 (153)
16	EVA_DECODE	ss3714766087	Jul 13, 2019 (153)
17	EVA_DECODE	ss3714766088	Jul 13, 2019 (153)
18	ACPOP	ss3732392236	Jul 13, 2019 (153)
19	ACPOP	ss3732392237	Jul 13, 2019 (153)
20	ACPOP	ss3732392238	Jul 13, 2019 (153)
21	PACBIO	ss3785121585	Jul 13, 2019 (153)
22	PACBIO	ss3785121586	Jul 13, 2019 (153)
23	PACBIO	ss3790526410	Jul 13, 2019 (153)
24	PACBIO	ss3795403052	Jul 13, 2019 (153)
25	KHV_HUMAN_GENOMES	ss3806651176	Jul 13, 2019 (153)
26	EVA	ss3829265776	Apr 26, 2020 (154)
27	KOGIC	ss3956765802	Apr 26, 2020 (154)
28	KOGIC	ss3956765803	Apr 26, 2020 (154)
29	KOGIC	ss3956765804	Apr 26, 2020 (154)
30	KOGIC	ss3956765805	Apr 26, 2020 (154)
31	GNOMAD	ss4105188288	Apr 26, 2021 (155)
32	GNOMAD	ss4105188289	Apr 26, 2021 (155)
33	GNOMAD	ss4105188290	Apr 26, 2021 (155)
34	GNOMAD	ss4105188291	Apr 26, 2021 (155)
35	GNOMAD	ss4105188292	Apr 26, 2021 (155)
36	GNOMAD	ss4105188293	Apr 26, 2021 (155)
37	GNOMAD	ss4105188294	Apr 26, 2021 (155)
38	GNOMAD	ss4105188296	Apr 26, 2021 (155)
39	GNOMAD	ss4105188297	Apr 26, 2021 (155)
40	GNOMAD	ss4105188298	Apr 26, 2021 (155)
41	GNOMAD	ss4105188299	Apr 26, 2021 (155)
42	GNOMAD	ss4105188300	Apr 26, 2021 (155)
43	GNOMAD	ss4105188301	Apr 26, 2021 (155)
44	GNOMAD	ss4105188302	Apr 26, 2021 (155)
45	GNOMAD	ss4105188303	Apr 26, 2021 (155)
46	GNOMAD	ss4105188304	Apr 26, 2021 (155)
47	GNOMAD	ss4105188305	Apr 26, 2021 (155)
48	GNOMAD	ss4105188306	Apr 26, 2021 (155)
49	GNOMAD	ss4105188307	Apr 26, 2021 (155)
50	GNOMAD	ss4105188308	Apr 26, 2021 (155)
51	GNOMAD	ss4105188310	Apr 26, 2021 (155)
52	GNOMAD	ss4105188311	Apr 26, 2021 (155)
53	TOMMO_GENOMICS	ss5171926793	Apr 26, 2021 (155)
54	TOMMO_GENOMICS	ss5171926794	Apr 26, 2021 (155)
55	TOMMO_GENOMICS	ss5171926795	Apr 26, 2021 (155)
56	1000G_HIGH_COVERAGE	ss5264119496	Oct 13, 2022 (156)
57	1000G_HIGH_COVERAGE	ss5264119497	Oct 13, 2022 (156)
58	1000G_HIGH_COVERAGE	ss5264119498	Oct 13, 2022 (156)
59	1000G_HIGH_COVERAGE	ss5264119499	Oct 13, 2022 (156)
60	1000G_HIGH_COVERAGE	ss5264119500	Oct 13, 2022 (156)
61	HUGCELL_USP	ss5462285576	Oct 13, 2022 (156)
62	HUGCELL_USP	ss5462285577	Oct 13, 2022 (156)
63	HUGCELL_USP	ss5462285578	Oct 13, 2022 (156)
64	HUGCELL_USP	ss5462285579	Oct 13, 2022 (156)
65	TOMMO_GENOMICS	ss5708375893	Oct 13, 2022 (156)
66	TOMMO_GENOMICS	ss5708375894	Oct 13, 2022 (156)
67	TOMMO_GENOMICS	ss5708375895	Oct 13, 2022 (156)
68	EVA	ss5834984013	Oct 13, 2022 (156)
69	EVA	ss5834984014	Oct 13, 2022 (156)
70	EVA	ss5834984015	Oct 13, 2022 (156)
71	EVA	ss5854830371	Oct 13, 2022 (156)
72	1000Genomes	NC_000005.9 - 60180351	Oct 12, 2018 (152)
73	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 14937421 (NC_000005.9:60180350::TTT 947/3854) Row 14937422 (NC_000005.9:60180350:T: 2051/3854)	-	Oct 12, 2018 (152)
74	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 14937421 (NC_000005.9:60180350::TTT 947/3854) Row 14937422 (NC_000005.9:60180350:T: 2051/3854)	-	Oct 12, 2018 (152)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 189868528 (NC_000005.10:60884523::T 19444/117660) Row 189868529 (NC_000005.10:60884523::TT 186/117770) Row 189868530 (NC_000005.10:60884523::TTT 22152/117498)...	-	Apr 26, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 189868528 (NC_000005.10:60884523::T 19444/117660) Row 189868529 (NC_000005.10:60884523::TT 186/117770) Row 189868530 (NC_000005.10:60884523::TTT 22152/117498)...	-	Apr 26, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 189868528 (NC_000005.10:60884523::T 19444/117660) Row 189868529 (NC_000005.10:60884523::TT 186/117770) Row 189868530 (NC_000005.10:60884523::TTT 22152/117498)...	-	Apr 26, 2021 (155)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 189868528 (NC_000005.10:60884523::T 19444/117660) Row 189868529 (NC_000005.10:60884523::TT 186/117770) Row 189868530 (NC_000005.10:60884523::TTT 22152/117498)...	-	Apr 26, 2021 (155)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 189868528 (NC_000005.10:60884523::T 19444/117660) Row 189868529 (NC_000005.10:60884523::TT 186/117770) Row 189868530 (NC_000005.10:60884523::TTT 22152/117498)...	-	Apr 26, 2021 (155)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 189868528 (NC_000005.10:60884523::T 19444/117660) Row 189868529 (NC_000005.10:60884523::TT 186/117770) Row 189868530 (NC_000005.10:60884523::TTT 22152/117498)...	-	Apr 26, 2021 (155)
81	gnomAD - Genomes Submission ignored due to conflicting rows: Row 189868528 (NC_000005.10:60884523::T 19444/117660) Row 189868529 (NC_000005.10:60884523::TT 186/117770) Row 189868530 (NC_000005.10:60884523::TTT 22152/117498)...	-	Apr 26, 2021 (155)
82	gnomAD - Genomes Submission ignored due to conflicting rows: Row 189868528 (NC_000005.10:60884523::T 19444/117660) Row 189868529 (NC_000005.10:60884523::TT 186/117770) Row 189868530 (NC_000005.10:60884523::TTT 22152/117498)...	-	Apr 26, 2021 (155)
83	gnomAD - Genomes Submission ignored due to conflicting rows: Row 189868528 (NC_000005.10:60884523::T 19444/117660) Row 189868529 (NC_000005.10:60884523::TT 186/117770) Row 189868530 (NC_000005.10:60884523::TTT 22152/117498)...	-	Apr 26, 2021 (155)
84	gnomAD - Genomes Submission ignored due to conflicting rows: Row 189868528 (NC_000005.10:60884523::T 19444/117660) Row 189868529 (NC_000005.10:60884523::TT 186/117770) Row 189868530 (NC_000005.10:60884523::TTT 22152/117498)...	-	Apr 26, 2021 (155)
85	gnomAD - Genomes Submission ignored due to conflicting rows: Row 189868528 (NC_000005.10:60884523::T 19444/117660) Row 189868529 (NC_000005.10:60884523::TT 186/117770) Row 189868530 (NC_000005.10:60884523::TTT 22152/117498)...	-	Apr 26, 2021 (155)
86	gnomAD - Genomes Submission ignored due to conflicting rows: Row 189868528 (NC_000005.10:60884523::T 19444/117660) Row 189868529 (NC_000005.10:60884523::TT 186/117770) Row 189868530 (NC_000005.10:60884523::TTT 22152/117498)...	-	Apr 26, 2021 (155)
87	gnomAD - Genomes Submission ignored due to conflicting rows: Row 189868528 (NC_000005.10:60884523::T 19444/117660) Row 189868529 (NC_000005.10:60884523::TT 186/117770) Row 189868530 (NC_000005.10:60884523::TTT 22152/117498)...	-	Apr 26, 2021 (155)
88	gnomAD - Genomes Submission ignored due to conflicting rows: Row 189868528 (NC_000005.10:60884523::T 19444/117660) Row 189868529 (NC_000005.10:60884523::TT 186/117770) Row 189868530 (NC_000005.10:60884523::TTT 22152/117498)...	-	Apr 26, 2021 (155)
89	gnomAD - Genomes Submission ignored due to conflicting rows: Row 189868528 (NC_000005.10:60884523::T 19444/117660) Row 189868529 (NC_000005.10:60884523::TT 186/117770) Row 189868530 (NC_000005.10:60884523::TTT 22152/117498)...	-	Apr 26, 2021 (155)
90	gnomAD - Genomes Submission ignored due to conflicting rows: Row 189868528 (NC_000005.10:60884523::T 19444/117660) Row 189868529 (NC_000005.10:60884523::TT 186/117770) Row 189868530 (NC_000005.10:60884523::TTT 22152/117498)...	-	Apr 26, 2021 (155)
91	gnomAD - Genomes Submission ignored due to conflicting rows: Row 189868528 (NC_000005.10:60884523::T 19444/117660) Row 189868529 (NC_000005.10:60884523::TT 186/117770) Row 189868530 (NC_000005.10:60884523::TTT 22152/117498)...	-	Apr 26, 2021 (155)
92	gnomAD - Genomes Submission ignored due to conflicting rows: Row 189868528 (NC_000005.10:60884523::T 19444/117660) Row 189868529 (NC_000005.10:60884523::TT 186/117770) Row 189868530 (NC_000005.10:60884523::TTT 22152/117498)...	-	Apr 26, 2021 (155)
93	gnomAD - Genomes Submission ignored due to conflicting rows: Row 189868528 (NC_000005.10:60884523::T 19444/117660) Row 189868529 (NC_000005.10:60884523::TT 186/117770) Row 189868530 (NC_000005.10:60884523::TTT 22152/117498)...	-	Apr 26, 2021 (155)
94	gnomAD - Genomes Submission ignored due to conflicting rows: Row 189868528 (NC_000005.10:60884523::T 19444/117660) Row 189868529 (NC_000005.10:60884523::TT 186/117770) Row 189868530 (NC_000005.10:60884523::TTT 22152/117498)...	-	Apr 26, 2021 (155)
95	gnomAD - Genomes Submission ignored due to conflicting rows: Row 189868528 (NC_000005.10:60884523::T 19444/117660) Row 189868529 (NC_000005.10:60884523::TT 186/117770) Row 189868530 (NC_000005.10:60884523::TTT 22152/117498)...	-	Apr 26, 2021 (155)
96	gnomAD - Genomes Submission ignored due to conflicting rows: Row 189868528 (NC_000005.10:60884523::T 19444/117660) Row 189868529 (NC_000005.10:60884523::TT 186/117770) Row 189868530 (NC_000005.10:60884523::TTT 22152/117498)...	-	Apr 26, 2021 (155)
97	Korean Genome Project Submission ignored due to conflicting rows: Row 13143803 (NC_000005.10:60884525::T 124/1830) Row 13143804 (NC_000005.10:60884524:T: 1253/1830) Row 13143805 (NC_000005.10:60884523:TT: 70/1830)...	-	Apr 26, 2020 (154)
98	Korean Genome Project Submission ignored due to conflicting rows: Row 13143803 (NC_000005.10:60884525::T 124/1830) Row 13143804 (NC_000005.10:60884524:T: 1253/1830) Row 13143805 (NC_000005.10:60884523:TT: 70/1830)...	-	Apr 26, 2020 (154)
99	Korean Genome Project Submission ignored due to conflicting rows: Row 13143803 (NC_000005.10:60884525::T 124/1830) Row 13143804 (NC_000005.10:60884524:T: 1253/1830) Row 13143805 (NC_000005.10:60884523:TT: 70/1830)...	-	Apr 26, 2020 (154)
100	Korean Genome Project Submission ignored due to conflicting rows: Row 13143803 (NC_000005.10:60884525::T 124/1830) Row 13143804 (NC_000005.10:60884524:T: 1253/1830) Row 13143805 (NC_000005.10:60884523:TT: 70/1830)...	-	Apr 26, 2020 (154)
101	Northern Sweden Submission ignored due to conflicting rows: Row 5677101 (NC_000005.9:60180350:T: 247/588) Row 5677102 (NC_000005.9:60180350::TTT 85/588) Row 5677103 (NC_000005.9:60180350::T 39/588)	-	Jul 13, 2019 (153)
102	Northern Sweden Submission ignored due to conflicting rows: Row 5677101 (NC_000005.9:60180350:T: 247/588) Row 5677102 (NC_000005.9:60180350::TTT 85/588) Row 5677103 (NC_000005.9:60180350::T 39/588)	-	Jul 13, 2019 (153)
103	Northern Sweden Submission ignored due to conflicting rows: Row 5677101 (NC_000005.9:60180350:T: 247/588) Row 5677102 (NC_000005.9:60180350::TTT 85/588) Row 5677103 (NC_000005.9:60180350::T 39/588)	-	Jul 13, 2019 (153)
104	8.3KJPN Submission ignored due to conflicting rows: Row 29896100 (NC_000005.9:60180350:T: 12786/16752) Row 29896101 (NC_000005.9:60180350::T 864/16752) Row 29896102 (NC_000005.9:60180350::TT 5/16752)	-	Apr 26, 2021 (155)
105	8.3KJPN Submission ignored due to conflicting rows: Row 29896100 (NC_000005.9:60180350:T: 12786/16752) Row 29896101 (NC_000005.9:60180350::T 864/16752) Row 29896102 (NC_000005.9:60180350::TT 5/16752)	-	Apr 26, 2021 (155)
106	8.3KJPN Submission ignored due to conflicting rows: Row 29896100 (NC_000005.9:60180350:T: 12786/16752) Row 29896101 (NC_000005.9:60180350::T 864/16752) Row 29896102 (NC_000005.9:60180350::TT 5/16752)	-	Apr 26, 2021 (155)
107	14KJPN Submission ignored due to conflicting rows: Row 42212997 (NC_000005.10:60884523:T: 21312/28258) Row 42212998 (NC_000005.10:60884523::T 1496/28258) Row 42212999 (NC_000005.10:60884523::TT 6/28258)	-	Oct 13, 2022 (156)
108	14KJPN Submission ignored due to conflicting rows: Row 42212997 (NC_000005.10:60884523:T: 21312/28258) Row 42212998 (NC_000005.10:60884523::T 1496/28258) Row 42212999 (NC_000005.10:60884523::TT 6/28258)	-	Oct 13, 2022 (156)
109	14KJPN Submission ignored due to conflicting rows: Row 42212997 (NC_000005.10:60884523:T: 21312/28258) Row 42212998 (NC_000005.10:60884523::T 1496/28258) Row 42212999 (NC_000005.10:60884523::TT 6/28258)	-	Oct 13, 2022 (156)
110	UK 10K study - Twins Submission ignored due to conflicting rows: Row 14937421 (NC_000005.9:60180350::TTT 980/3708) Row 14937422 (NC_000005.9:60180350:T: 1884/3708)	-	Oct 12, 2018 (152)
111	UK 10K study - Twins Submission ignored due to conflicting rows: Row 14937421 (NC_000005.9:60180350::TTT 980/3708) Row 14937422 (NC_000005.9:60180350:T: 1884/3708)	-	Oct 12, 2018 (152)
112	ALFA	NC_000005.10 - 60884524	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
9374785933	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss3956765804, ss4105188311	NC_000005.10:60884523:TT:	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
9374785933	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss288632989	NC_000005.8:60216107:T:	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
26870182, ss663613005, ss666311771, ss1373861883, ss1704688586, ss1704688639, ss2997000832, ss3732392236, ss3785121585, ss3790526410, ss3795403052, ss5171926793, ss5834984013	NC_000005.9:60180350:T:	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss3714766083, ss3806651176, ss4105188310, ss5264119496, ss5462285576, ss5708375893, ss5854830371	NC_000005.10:60884523:T:	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
9374785933	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss3956765803	NC_000005.10:60884524:T:	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTT	(self)
ss3732392238, ss5171926794	NC_000005.9:60180350::T	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss4105188288, ss5264119498, ss5462285579, ss5708375894	NC_000005.10:60884523::T	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
9374785933	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3714766084	NC_000005.10:60884524::T	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3956765802	NC_000005.10:60884525::T	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss5171926795	NC_000005.9:60180350::TT	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4105188289, ss5264119499, ss5462285577, ss5708375895	NC_000005.10:60884523::TT	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
9374785933	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3714766085	NC_000005.10:60884524::TT	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss3732392237, ss3785121586, ss3829265776, ss5834984014	NC_000005.9:60180350::TTT	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss1710210671, ss1710210679	NC_000005.9:60180351::TTT	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3648070354, ss4105188290, ss5264119497, ss5462285578	NC_000005.10:60884523::TTT	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
9374785933	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3714766086	NC_000005.10:60884524::TTT	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss3956765805	NC_000005.10:60884525::TTT	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss98676956	NT_006713.15:10774709::TTT	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss5834984015	NC_000005.9:60180350::TTTT	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
ss4105188291, ss5264119500	NC_000005.10:60884523::TTTT	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
9374785933	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss3714766087	NC_000005.10:60884524::TTTT	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4105188292	NC_000005.10:60884523::TTTTT	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
9374785933	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4105188293	NC_000005.10:60884523::TTTTTT	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
9374785933	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss3714766088	NC_000005.10:60884524::TTTTTT	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4105188294	NC_000005.10:60884523::TTTTTTT	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4105188296	NC_000005.10:60884523::TTTTTTTT	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4105188297	NC_000005.10:60884523::TTTTTTTTT	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4105188298	NC_000005.10:60884523::TTTTTTTTTT	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4105188299	NC_000005.10:60884523::TTTTTTTTTTT	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
9374785933	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4105188300	NC_000005.10:60884523::TTTTTTTTTTTT	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4105188301	NC_000005.10:60884523::TTTTTTTTTTT… NC_000005.10:60884523::TTTTTTTTTTTTT	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4105188302	NC_000005.10:60884523::TTTTTTTTTTT… NC_000005.10:60884523::TTTTTTTTTTTTTT	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4105188303	NC_000005.10:60884523::TTTTTTTTTTT… NC_000005.10:60884523::TTTTTTTTTTTTTTTTTT	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4105188304	NC_000005.10:60884523::TTTTTTTTTTT… NC_000005.10:60884523::TTTTTTTTTTTTTTTTTTT	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4105188305	NC_000005.10:60884523::TTTTTTTTTTT… NC_000005.10:60884523::TTTTTTTTTTTTTTTTTTTT	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4105188306	NC_000005.10:60884523::TTTTTTTTTTT… NC_000005.10:60884523::TTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4105188307	NC_000005.10:60884523::TTTTTTTTTTT… NC_000005.10:60884523::TTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4105188308	NC_000005.10:60884523::TTTTTTTTTTT… NC_000005.10:60884523::TTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000005.10:60884523:TTTTTTTTTTTT… NC_000005.10:60884523:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(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 rs71606648

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

rs71606648