Name: rs79722006
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.

rs79722006

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:170774565-170774583 (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)₇ / del(T)₅ / del(T)₄ / delT…
del(T)₇ / del(T)₅ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₁₂ / dup(T)₁₃
Variation Type: Indel Insertion and Deletion
Frequency: del(T)₇=0.0000 (0/7012, ALFA)
del(T)₅=0.0000 (0/7012, ALFA)
del(T)₄=0.0000 (0/7012, ALFA) (+ 6 more)
delTTT=0.0000 (0/7012, ALFA)
delTT=0.0000 (0/7012, ALFA)
delT=0.0000 (0/7012, ALFA)
dupT=0.0000 (0/7012, ALFA)
dupTTT=0.0000 (0/7012, ALFA)
del(T)₄=0.1916 (343/1790, Korea1K)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ERICH2 : 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	HWEP
Total	Global	7012	TTTTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
European	Sub	3818	TTTTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
African	Sub	2308	TTTTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
African Others	Sub	98	TTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
African American	Sub	2210	TTTTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	N/A
Asian	Sub	64	TTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
East Asian	Sub	46	TTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Other Asian	Sub	18	TTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Latin American 1	Sub	94	TTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Latin American 2	Sub	384	TTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	N/A
South Asian	Sub	40	TTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTT=0.00, TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	N/A
Other	Sub	304	TTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTT=0.000, TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	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	7012	(T)₁₉=1.0000	del(T)₇=0.0000, del(T)₅=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTTT=0.0000
Allele Frequency Aggregator	European	Sub	3818	(T)₁₉=1.0000	del(T)₇=0.0000, del(T)₅=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTTT=0.0000
Allele Frequency Aggregator	African	Sub	2308	(T)₁₉=1.0000	del(T)₇=0.0000, del(T)₅=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTTT=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	384	(T)₁₉=1.000	del(T)₇=0.000, del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTTT=0.000
Allele Frequency Aggregator	Other	Sub	304	(T)₁₉=1.000	del(T)₇=0.000, del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTTT=0.000
Allele Frequency Aggregator	Latin American 1	Sub	94	(T)₁₉=1.00	del(T)₇=0.00, del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTTT=0.00
Allele Frequency Aggregator	Asian	Sub	64	(T)₁₉=1.00	del(T)₇=0.00, del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTTT=0.00
Allele Frequency Aggregator	South Asian	Sub	40	(T)₁₉=1.00	del(T)₇=0.00, del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTTT=0.00
Korean Genome Project	KOREAN	Study-wide	1790	(T)₁₉=0.8084	del(T)₄=0.1916

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 2	NC_000002.12:g.170774577_170774583del
GRCh38.p14 chr 2	NC_000002.12:g.170774579_170774583del
GRCh38.p14 chr 2	NC_000002.12:g.170774580_170774583del
GRCh38.p14 chr 2	NC_000002.12:g.170774581_170774583del
GRCh38.p14 chr 2	NC_000002.12:g.170774582_170774583del
GRCh38.p14 chr 2	NC_000002.12:g.170774583del
GRCh38.p14 chr 2	NC_000002.12:g.170774583dup
GRCh38.p14 chr 2	NC_000002.12:g.170774582_170774583dup
GRCh38.p14 chr 2	NC_000002.12:g.170774581_170774583dup
GRCh38.p14 chr 2	NC_000002.12:g.170774572_170774583dup
GRCh38.p14 chr 2	NC_000002.12:g.170774571_170774583dup
GRCh37.p13 chr 2	NC_000002.11:g.171631087_171631093del
GRCh37.p13 chr 2	NC_000002.11:g.171631089_171631093del
GRCh37.p13 chr 2	NC_000002.11:g.171631090_171631093del
GRCh37.p13 chr 2	NC_000002.11:g.171631091_171631093del
GRCh37.p13 chr 2	NC_000002.11:g.171631092_171631093del
GRCh37.p13 chr 2	NC_000002.11:g.171631093del
GRCh37.p13 chr 2	NC_000002.11:g.171631093dup
GRCh37.p13 chr 2	NC_000002.11:g.171631092_171631093dup
GRCh37.p13 chr 2	NC_000002.11:g.171631091_171631093dup
GRCh37.p13 chr 2	NC_000002.11:g.171631082_171631093dup
GRCh37.p13 chr 2	NC_000002.11:g.171631081_171631093dup

Gene: ERICH2, glutamate rich 2 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ERICH2 transcript variant 1	NM_001290030.2:c.507-2570… NM_001290030.2:c.507-2570_507-2564del	N/A	Intron Variant
ERICH2 transcript variant 3	NM_001290031.1:c.507-2570… NM_001290031.1:c.507-2570_507-2564del	N/A	Intron Variant
ERICH2 transcript variant 6	NM_001388467.1:c.-64-2570… NM_001388467.1:c.-64-2570_-64-2564del	N/A	Intron Variant
ERICH2 transcript variant 7	NM_001388468.1:c.-64-2570… NM_001388468.1:c.-64-2570_-64-2564del	N/A	Intron Variant
ERICH2 transcript variant 8	NM_001388469.1:c.61-2800_… NM_001388469.1:c.61-2800_61-2794del	N/A	Intron Variant
ERICH2 transcript variant 9	NM_001388470.1:c.-33-2800… NM_001388470.1:c.-33-2800_-33-2794del	N/A	Intron Variant
ERICH2 transcript variant 5	NM_001388471.1:c.507-2570… NM_001388471.1:c.507-2570_507-2564del	N/A	Intron Variant
ERICH2 transcript variant 2	NM_001289947.2:c.	N/A	Genic Upstream Transcript Variant
ERICH2 transcript variant 4	NR_110644.1:n.	N/A	Intron Variant
ERICH2 transcript variant X3	XM_011511001.3:c.-65+2139… XM_011511001.3:c.-65+2139_-65+2145del	N/A	Intron Variant
ERICH2 transcript variant X1	XM_017003875.2:c.507-2570… XM_017003875.2:c.507-2570_507-2564del	N/A	Intron Variant
ERICH2 transcript variant X2	XM_047443999.1:c.61-2800_… XM_047443999.1:c.61-2800_61-2794del	N/A	Intron Variant
ERICH2 transcript variant X4	XM_047444000.1:c.-64-2570… XM_047444000.1:c.-64-2570_-64-2564del	N/A	Intron 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)₁₉=	del(T)₇	del(T)₅	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₁₂	dup(T)₁₃
GRCh38.p14 chr 2	NC_000002.12:g.170774565_170774583=	NC_000002.12:g.170774577_170774583del	NC_000002.12:g.170774579_170774583del	NC_000002.12:g.170774580_170774583del	NC_000002.12:g.170774581_170774583del	NC_000002.12:g.170774582_170774583del	NC_000002.12:g.170774583del	NC_000002.12:g.170774583dup	NC_000002.12:g.170774582_170774583dup	NC_000002.12:g.170774581_170774583dup	NC_000002.12:g.170774572_170774583dup	NC_000002.12:g.170774571_170774583dup
GRCh37.p13 chr 2	NC_000002.11:g.171631075_171631093=	NC_000002.11:g.171631087_171631093del	NC_000002.11:g.171631089_171631093del	NC_000002.11:g.171631090_171631093del	NC_000002.11:g.171631091_171631093del	NC_000002.11:g.171631092_171631093del	NC_000002.11:g.171631093del	NC_000002.11:g.171631093dup	NC_000002.11:g.171631092_171631093dup	NC_000002.11:g.171631091_171631093dup	NC_000002.11:g.171631082_171631093dup	NC_000002.11:g.171631081_171631093dup
ERICH2 transcript variant 1	NM_001290030.2:c.507-2582=	NM_001290030.2:c.507-2570_507-2564del	NM_001290030.2:c.507-2568_507-2564del	NM_001290030.2:c.507-2567_507-2564del	NM_001290030.2:c.507-2566_507-2564del	NM_001290030.2:c.507-2565_507-2564del	NM_001290030.2:c.507-2564del	NM_001290030.2:c.507-2564dup	NM_001290030.2:c.507-2565_507-2564dup	NM_001290030.2:c.507-2566_507-2564dup	NM_001290030.2:c.507-2575_507-2564dup	NM_001290030.2:c.507-2576_507-2564dup
ERICH2 transcript variant 3	NM_001290031.1:c.507-2582=	NM_001290031.1:c.507-2570_507-2564del	NM_001290031.1:c.507-2568_507-2564del	NM_001290031.1:c.507-2567_507-2564del	NM_001290031.1:c.507-2566_507-2564del	NM_001290031.1:c.507-2565_507-2564del	NM_001290031.1:c.507-2564del	NM_001290031.1:c.507-2564dup	NM_001290031.1:c.507-2565_507-2564dup	NM_001290031.1:c.507-2566_507-2564dup	NM_001290031.1:c.507-2575_507-2564dup	NM_001290031.1:c.507-2576_507-2564dup
ERICH2 transcript variant 6	NM_001388467.1:c.-64-2582=	NM_001388467.1:c.-64-2570_-64-2564del	NM_001388467.1:c.-64-2568_-64-2564del	NM_001388467.1:c.-64-2567_-64-2564del	NM_001388467.1:c.-64-2566_-64-2564del	NM_001388467.1:c.-64-2565_-64-2564del	NM_001388467.1:c.-64-2564del	NM_001388467.1:c.-64-2564dup	NM_001388467.1:c.-64-2565_-64-2564dup	NM_001388467.1:c.-64-2566_-64-2564dup	NM_001388467.1:c.-64-2575_-64-2564dup	NM_001388467.1:c.-64-2576_-64-2564dup
ERICH2 transcript variant 7	NM_001388468.1:c.-64-2582=	NM_001388468.1:c.-64-2570_-64-2564del	NM_001388468.1:c.-64-2568_-64-2564del	NM_001388468.1:c.-64-2567_-64-2564del	NM_001388468.1:c.-64-2566_-64-2564del	NM_001388468.1:c.-64-2565_-64-2564del	NM_001388468.1:c.-64-2564del	NM_001388468.1:c.-64-2564dup	NM_001388468.1:c.-64-2565_-64-2564dup	NM_001388468.1:c.-64-2566_-64-2564dup	NM_001388468.1:c.-64-2575_-64-2564dup	NM_001388468.1:c.-64-2576_-64-2564dup
ERICH2 transcript variant 8	NM_001388469.1:c.61-2812=	NM_001388469.1:c.61-2800_61-2794del	NM_001388469.1:c.61-2798_61-2794del	NM_001388469.1:c.61-2797_61-2794del	NM_001388469.1:c.61-2796_61-2794del	NM_001388469.1:c.61-2795_61-2794del	NM_001388469.1:c.61-2794del	NM_001388469.1:c.61-2794dup	NM_001388469.1:c.61-2795_61-2794dup	NM_001388469.1:c.61-2796_61-2794dup	NM_001388469.1:c.61-2805_61-2794dup	NM_001388469.1:c.61-2806_61-2794dup
ERICH2 transcript variant 9	NM_001388470.1:c.-33-2812=	NM_001388470.1:c.-33-2800_-33-2794del	NM_001388470.1:c.-33-2798_-33-2794del	NM_001388470.1:c.-33-2797_-33-2794del	NM_001388470.1:c.-33-2796_-33-2794del	NM_001388470.1:c.-33-2795_-33-2794del	NM_001388470.1:c.-33-2794del	NM_001388470.1:c.-33-2794dup	NM_001388470.1:c.-33-2795_-33-2794dup	NM_001388470.1:c.-33-2796_-33-2794dup	NM_001388470.1:c.-33-2805_-33-2794dup	NM_001388470.1:c.-33-2806_-33-2794dup
ERICH2 transcript variant 5	NM_001388471.1:c.507-2582=	NM_001388471.1:c.507-2570_507-2564del	NM_001388471.1:c.507-2568_507-2564del	NM_001388471.1:c.507-2567_507-2564del	NM_001388471.1:c.507-2566_507-2564del	NM_001388471.1:c.507-2565_507-2564del	NM_001388471.1:c.507-2564del	NM_001388471.1:c.507-2564dup	NM_001388471.1:c.507-2565_507-2564dup	NM_001388471.1:c.507-2566_507-2564dup	NM_001388471.1:c.507-2575_507-2564dup	NM_001388471.1:c.507-2576_507-2564dup
ERICH2 transcript variant X3	XM_011511001.3:c.-65+2127=	XM_011511001.3:c.-65+2139_-65+2145del	XM_011511001.3:c.-65+2141_-65+2145del	XM_011511001.3:c.-65+2142_-65+2145del	XM_011511001.3:c.-65+2143_-65+2145del	XM_011511001.3:c.-65+2144_-65+2145del	XM_011511001.3:c.-65+2145del	XM_011511001.3:c.-65+2145dup	XM_011511001.3:c.-65+2144_-65+2145dup	XM_011511001.3:c.-65+2143_-65+2145dup	XM_011511001.3:c.-65+2134_-65+2145dup	XM_011511001.3:c.-65+2133_-65+2145dup
ERICH2 transcript variant X1	XM_017003875.2:c.507-2582=	XM_017003875.2:c.507-2570_507-2564del	XM_017003875.2:c.507-2568_507-2564del	XM_017003875.2:c.507-2567_507-2564del	XM_017003875.2:c.507-2566_507-2564del	XM_017003875.2:c.507-2565_507-2564del	XM_017003875.2:c.507-2564del	XM_017003875.2:c.507-2564dup	XM_017003875.2:c.507-2565_507-2564dup	XM_017003875.2:c.507-2566_507-2564dup	XM_017003875.2:c.507-2575_507-2564dup	XM_017003875.2:c.507-2576_507-2564dup
ERICH2 transcript variant X2	XM_047443999.1:c.61-2812=	XM_047443999.1:c.61-2800_61-2794del	XM_047443999.1:c.61-2798_61-2794del	XM_047443999.1:c.61-2797_61-2794del	XM_047443999.1:c.61-2796_61-2794del	XM_047443999.1:c.61-2795_61-2794del	XM_047443999.1:c.61-2794del	XM_047443999.1:c.61-2794dup	XM_047443999.1:c.61-2795_61-2794dup	XM_047443999.1:c.61-2796_61-2794dup	XM_047443999.1:c.61-2805_61-2794dup	XM_047443999.1:c.61-2806_61-2794dup
ERICH2 transcript variant X4	XM_047444000.1:c.-64-2582=	XM_047444000.1:c.-64-2570_-64-2564del	XM_047444000.1:c.-64-2568_-64-2564del	XM_047444000.1:c.-64-2567_-64-2564del	XM_047444000.1:c.-64-2566_-64-2564del	XM_047444000.1:c.-64-2565_-64-2564del	XM_047444000.1:c.-64-2564del	XM_047444000.1:c.-64-2564dup	XM_047444000.1:c.-64-2565_-64-2564dup	XM_047444000.1:c.-64-2566_-64-2564dup	XM_047444000.1:c.-64-2575_-64-2564dup	XM_047444000.1:c.-64-2576_-64-2564dup
ERICH2 transcript	XM_209489.8:c.-64-2582=	XM_209489.8:c.-64-2570_-64-2564del	XM_209489.8:c.-64-2568_-64-2564del	XM_209489.8:c.-64-2567_-64-2564del	XM_209489.8:c.-64-2566_-64-2564del	XM_209489.8:c.-64-2565_-64-2564del	XM_209489.8:c.-64-2564del	XM_209489.8:c.-64-2564dup	XM_209489.8:c.-64-2565_-64-2564dup	XM_209489.8:c.-64-2566_-64-2564dup	XM_209489.8:c.-64-2575_-64-2564dup	XM_209489.8:c.-64-2576_-64-2564dup

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#.

38 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss41733529	Mar 15, 2016 (147)
2	BCMHGSC_JDW	ss103638072	Dec 06, 2013 (138)
3	GMI	ss288253140	May 04, 2012 (137)
4	BILGI_BIOE	ss666175555	Apr 25, 2013 (138)
5	EVA_UK10K_ALSPAC	ss1703280582	Apr 01, 2015 (144)
6	EVA_UK10K_TWINSUK	ss1703280584	Apr 01, 2015 (144)
7	EVA_UK10K_TWINSUK	ss1710038352	Apr 01, 2015 (144)
8	EVA_UK10K_ALSPAC	ss1710038355	Apr 01, 2015 (144)
9	SWEGEN	ss2990857905	Nov 08, 2017 (151)
10	BEROUKHIMLAB	ss3644106830	Oct 11, 2018 (152)
11	EVA_DECODE	ss3705417055	Jul 13, 2019 (153)
12	EVA_DECODE	ss3705417056	Jul 13, 2019 (153)
13	EVA_DECODE	ss3705417058	Jul 13, 2019 (153)
14	EVA_DECODE	ss3705417059	Jul 13, 2019 (153)
15	EVA_DECODE	ss3705417062	Jul 13, 2019 (153)
16	EVA	ss3827352220	Apr 25, 2020 (154)
17	KOGIC	ss3949491125	Apr 25, 2020 (154)
18	GNOMAD	ss4055543534	Apr 26, 2021 (155)
19	GNOMAD	ss4055543549	Apr 26, 2021 (155)
20	GNOMAD	ss4055543550	Apr 26, 2021 (155)
21	GNOMAD	ss4055543551	Apr 26, 2021 (155)
22	GNOMAD	ss4055543552	Apr 26, 2021 (155)
23	GNOMAD	ss4055543553	Apr 26, 2021 (155)
24	GNOMAD	ss4055543554	Apr 26, 2021 (155)
25	GNOMAD	ss4055543555	Apr 26, 2021 (155)
26	GNOMAD	ss4055543556	Apr 26, 2021 (155)
27	GNOMAD	ss4055543557	Apr 26, 2021 (155)
28	TOMMO_GENOMICS	ss5155098808	Apr 26, 2021 (155)
29	TOMMO_GENOMICS	ss5155098809	Apr 26, 2021 (155)
30	HUGCELL_USP	ss5450675287	Oct 12, 2022 (156)
31	HUGCELL_USP	ss5450675288	Oct 12, 2022 (156)
32	HUGCELL_USP	ss5450675290	Oct 12, 2022 (156)
33	SANFORD_IMAGENETICS	ss5630348011	Oct 12, 2022 (156)
34	TOMMO_GENOMICS	ss5685576860	Oct 12, 2022 (156)
35	TOMMO_GENOMICS	ss5685576861	Oct 12, 2022 (156)
36	TOMMO_GENOMICS	ss5685576863	Oct 12, 2022 (156)
37	YY_MCH	ss5802961958	Oct 12, 2022 (156)
38	EVA	ss5852829802	Oct 12, 2022 (156)
39	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 6328068 (NC_000002.11:171631074:TTTT: 1066/3854) Row 6328069 (NC_000002.11:171631074::TTT 143/3854)	-	Oct 11, 2018 (152)
40	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 6328068 (NC_000002.11:171631074:TTTT: 1066/3854) Row 6328069 (NC_000002.11:171631074::TTT 143/3854)	-	Oct 11, 2018 (152)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 81741816 (NC_000002.12:170774564::T 4/89784) Row 81741831 (NC_000002.12:170774564::TTT 8/89776) Row 81741832 (NC_000002.12:170774564::TTTTTTTTTTTT 2/89782)...	-	Apr 26, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 81741816 (NC_000002.12:170774564::T 4/89784) Row 81741831 (NC_000002.12:170774564::TTT 8/89776) Row 81741832 (NC_000002.12:170774564::TTTTTTTTTTTT 2/89782)...	-	Apr 26, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 81741816 (NC_000002.12:170774564::T 4/89784) Row 81741831 (NC_000002.12:170774564::TTT 8/89776) Row 81741832 (NC_000002.12:170774564::TTTTTTTTTTTT 2/89782)...	-	Apr 26, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 81741816 (NC_000002.12:170774564::T 4/89784) Row 81741831 (NC_000002.12:170774564::TTT 8/89776) Row 81741832 (NC_000002.12:170774564::TTTTTTTTTTTT 2/89782)...	-	Apr 26, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 81741816 (NC_000002.12:170774564::T 4/89784) Row 81741831 (NC_000002.12:170774564::TTT 8/89776) Row 81741832 (NC_000002.12:170774564::TTTTTTTTTTTT 2/89782)...	-	Apr 26, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 81741816 (NC_000002.12:170774564::T 4/89784) Row 81741831 (NC_000002.12:170774564::TTT 8/89776) Row 81741832 (NC_000002.12:170774564::TTTTTTTTTTTT 2/89782)...	-	Apr 26, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 81741816 (NC_000002.12:170774564::T 4/89784) Row 81741831 (NC_000002.12:170774564::TTT 8/89776) Row 81741832 (NC_000002.12:170774564::TTTTTTTTTTTT 2/89782)...	-	Apr 26, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 81741816 (NC_000002.12:170774564::T 4/89784) Row 81741831 (NC_000002.12:170774564::TTT 8/89776) Row 81741832 (NC_000002.12:170774564::TTTTTTTTTTTT 2/89782)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 81741816 (NC_000002.12:170774564::T 4/89784) Row 81741831 (NC_000002.12:170774564::TTT 8/89776) Row 81741832 (NC_000002.12:170774564::TTTTTTTTTTTT 2/89782)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 81741816 (NC_000002.12:170774564::T 4/89784) Row 81741831 (NC_000002.12:170774564::TTT 8/89776) Row 81741832 (NC_000002.12:170774564::TTTTTTTTTTTT 2/89782)...	-	Apr 26, 2021 (155)
51	Korean Genome Project	NC_000002.12 - 170774565	Apr 25, 2020 (154)
52	8.3KJPN Submission ignored due to conflicting rows: Row 13068115 (NC_000002.11:171631074:TTTT: 2556/14720) Row 13068116 (NC_000002.11:171631074:TTT: 278/14720)	-	Apr 26, 2021 (155)
53	8.3KJPN Submission ignored due to conflicting rows: Row 13068115 (NC_000002.11:171631074:TTTT: 2556/14720) Row 13068116 (NC_000002.11:171631074:TTT: 278/14720)	-	Apr 26, 2021 (155)
54	14KJPN Submission ignored due to conflicting rows: Row 19413964 (NC_000002.12:170774564:TTTT: 4426/28252) Row 19413965 (NC_000002.12:170774564:TTT: 488/28252) Row 19413967 (NC_000002.12:170774564::TTT 2/28252)	-	Oct 12, 2022 (156)
55	14KJPN Submission ignored due to conflicting rows: Row 19413964 (NC_000002.12:170774564:TTTT: 4426/28252) Row 19413965 (NC_000002.12:170774564:TTT: 488/28252) Row 19413967 (NC_000002.12:170774564::TTT 2/28252)	-	Oct 12, 2022 (156)
56	14KJPN Submission ignored due to conflicting rows: Row 19413964 (NC_000002.12:170774564:TTTT: 4426/28252) Row 19413965 (NC_000002.12:170774564:TTT: 488/28252) Row 19413967 (NC_000002.12:170774564::TTT 2/28252)	-	Oct 12, 2022 (156)
57	UK 10K study - Twins Submission ignored due to conflicting rows: Row 6328068 (NC_000002.11:171631074:TTTT: 1038/3708) Row 6328069 (NC_000002.11:171631074::TTT 166/3708)	-	Oct 11, 2018 (152)
58	UK 10K study - Twins Submission ignored due to conflicting rows: Row 6328068 (NC_000002.11:171631074:TTTT: 1038/3708) Row 6328069 (NC_000002.11:171631074::TTT 166/3708)	-	Oct 11, 2018 (152)
59	ALFA	NC_000002.12 - 170774565	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).

Associated ID	History Updated (Build)
rs201475581	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4055543557	NC_000002.12:170774564:TTTTTTT:	NC_000002.12:170774564:TTTTTTTTTTT… NC_000002.12:170774564:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
13109512071	NC_000002.12:170774564:TTTTTTTTTTT… NC_000002.12:170774564:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	NC_000002.12:170774564:TTTTTTTTTTT… NC_000002.12:170774564:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT	(self)
ss3705417055, ss4055543556	NC_000002.12:170774564:TTTTT:	NC_000002.12:170774564:TTTTTTTTTTT… NC_000002.12:170774564:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
13109512071	NC_000002.12:170774564:TTTTTTTTTTT… NC_000002.12:170774564:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000002.12:170774564:TTTTTTTTTTT… NC_000002.12:170774564:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss288253140	NC_000002.10:171339320:TTTT:	NC_000002.12:170774564:TTTTTTTTTTT… NC_000002.12:170774564:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss666175555, ss1703280582, ss1703280584, ss2990857905, ss3644106830, ss3827352220, ss5155098808, ss5630348011	NC_000002.11:171631074:TTTT:	NC_000002.12:170774564:TTTTTTTTTTT… NC_000002.12:170774564:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
5869126, ss3949491125, ss4055543555, ss5450675287, ss5685576860, ss5802961958, ss5852829802	NC_000002.12:170774564:TTTT:	NC_000002.12:170774564:TTTTTTTTTTT… NC_000002.12:170774564:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
13109512071	NC_000002.12:170774564:TTTTTTTTTTT… NC_000002.12:170774564:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000002.12:170774564:TTTTTTTTTTT… NC_000002.12:170774564:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss3705417056	NC_000002.12:170774565:TTTT:	NC_000002.12:170774564:TTTTTTTTTTT… NC_000002.12:170774564:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss5155098809	NC_000002.11:171631074:TTT:	NC_000002.12:170774564:TTTTTTTTTTT… NC_000002.12:170774564:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4055543554, ss5450675288, ss5685576861	NC_000002.12:170774564:TTT:	NC_000002.12:170774564:TTTTTTTTTTT… NC_000002.12:170774564:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
13109512071	NC_000002.12:170774564:TTTTTTTTTTT… NC_000002.12:170774564:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000002.12:170774564:TTTTTTTTTTT… NC_000002.12:170774564:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss4055543553, ss5450675290	NC_000002.12:170774564:TT:	NC_000002.12:170774564:TTTTTTTTTTT… NC_000002.12:170774564:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
13109512071	NC_000002.12:170774564:TTTTTTTTTTT… NC_000002.12:170774564:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000002.12:170774564:TTTTTTTTTTT… NC_000002.12:170774564:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4055543552	NC_000002.12:170774564:T:	NC_000002.12:170774564:TTTTTTTTTTT… NC_000002.12:170774564:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
13109512071	NC_000002.12:170774564:TTTTTTTTTTT… NC_000002.12:170774564:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000002.12:170774564:TTTTTTTTTTT… NC_000002.12:170774564:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss41733529, ss103638072	NT_005403.17:21840510:T:	NC_000002.12:170774564:TTTTTTTTTTT… NC_000002.12:170774564:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4055543534	NC_000002.12:170774564::T	NC_000002.12:170774564:TTTTTTTTTTT… NC_000002.12:170774564:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
13109512071	NC_000002.12:170774564:TTTTTTTTTTT… NC_000002.12:170774564:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000002.12:170774564:TTTTTTTTTTT… NC_000002.12:170774564:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss3705417062	NC_000002.12:170774566::T	NC_000002.12:170774564:TTTTTTTTTTT… NC_000002.12:170774564:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss3705417058	NC_000002.12:170774569::T	NC_000002.12:170774564:TTTTTTTTTTT… NC_000002.12:170774564:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss41733529	NT_005403.17:21840510:T:TT	NC_000002.12:170774564:TTTTTTTTTTT… NC_000002.12:170774564:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss3705417059	NC_000002.12:170774565::TT	NC_000002.12:170774564:TTTTTTTTTTT… NC_000002.12:170774564:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
	NC_000002.11:171631074::TTT	NC_000002.12:170774564:TTTTTTTTTTT… NC_000002.12:170774564:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss1710038352, ss1710038355	NC_000002.11:171631078::TTT	NC_000002.12:170774564:TTTTTTTTTTT… NC_000002.12:170774564:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4055543549, ss5685576863	NC_000002.12:170774564::TTT	NC_000002.12:170774564:TTTTTTTTTTT… NC_000002.12:170774564:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
13109512071	NC_000002.12:170774564:TTTTTTTTTTT… NC_000002.12:170774564:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000002.12:170774564:TTTTTTTTTTT… NC_000002.12:170774564:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss103638072	NT_005403.17:21840510:T:TTTT	NC_000002.12:170774564:TTTTTTTTTTT… NC_000002.12:170774564:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss4055543550	NC_000002.12:170774564::TTTTTTTTTT… NC_000002.12:170774564::TTTTTTTTTTTT	NC_000002.12:170774564:TTTTTTTTTTT… NC_000002.12:170774564:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4055543551	NC_000002.12:170774564::TTTTTTTTTT… NC_000002.12:170774564::TTTTTTTTTTTTT	NC_000002.12:170774564:TTTTTTTTTTT… NC_000002.12:170774564:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(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 rs79722006

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

rs79722006