Name: rs11327088
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.

rs11327088

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr15:22872294-22872310 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: del(A)₇ / del(A)₅ / del(A)₄ / delA…
del(A)₇ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₅ / dup(A)₆ / dup(A)₇ / dup(A)₈ / insAAAG(A)₂₀
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₄=0.0150 (58/3854, ALSPAC)
del(A)₇=0.0000 (0/1428, ALFA)
del(A)₅=0.0000 (0/1428, ALFA) (+ 11 more)
del(A)₄=0.0000 (0/1428, ALFA)
delAAA=0.0000 (0/1428, ALFA)
delAA=0.0000 (0/1428, ALFA)
delA=0.0000 (0/1428, ALFA)
dupA=0.0000 (0/1428, ALFA)
dupAA=0.0000 (0/1428, ALFA)
dupAAA=0.0000 (0/1428, ALFA)
dup(A)₄=0.0000 (0/1428, ALFA)
dup(A)₅=0.0000 (0/1428, ALFA)
dup(A)₆=0.0000 (0/1428, ALFA)
(A)₁₇=0.38 (15/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: CYFIP1 : 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	1428	AAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	0.0	0.0	N/A
European	Sub	732	AAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African	Sub	580	AAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	16	AAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	564	AAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	20	AAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	20	AAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	0	AAAAAAAAAAAAAAAAA=0	AAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 1	Sub	30	AAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	28	AAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	0	AAAAAAAAAAAAAAAAA=0	AAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other	Sub	38	AAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00	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").

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	(A)₁₇=0.9850	del(A)₄=0.0150
Allele Frequency Aggregator	Total	Global	1428	(A)₁₇=1.0000	del(A)₇=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₄=0.0000, dup(A)₅=0.0000, dup(A)₆=0.0000
Allele Frequency Aggregator	European	Sub	732	(A)₁₇=1.000	del(A)₇=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000, dup(A)₆=0.000
Allele Frequency Aggregator	African	Sub	580	(A)₁₇=1.000	del(A)₇=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000, dup(A)₆=0.000
Allele Frequency Aggregator	Other	Sub	38	(A)₁₇=1.00	del(A)₇=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00, dup(A)₆=0.00
Allele Frequency Aggregator	Latin American 1	Sub	30	(A)₁₇=1.00	del(A)₇=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00, dup(A)₆=0.00
Allele Frequency Aggregator	Latin American 2	Sub	28	(A)₁₇=1.00	del(A)₇=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00, dup(A)₆=0.00
Allele Frequency Aggregator	Asian	Sub	20	(A)₁₇=1.00	del(A)₇=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00, dup(A)₆=0.00
Allele Frequency Aggregator	South Asian	Sub	0	(A)₁₇=0	del(A)₇=0, del(A)₅=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0, dup(A)₄=0, dup(A)₅=0, dup(A)₆=0
The Danish reference pan genome	Danish	Study-wide	40	(A)₁₇=0.38	delA=0.62

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 15	NC_000015.10:g.22872304_22872310del
GRCh38.p14 chr 15	NC_000015.10:g.22872306_22872310del
GRCh38.p14 chr 15	NC_000015.10:g.22872307_22872310del
GRCh38.p14 chr 15	NC_000015.10:g.22872308_22872310del
GRCh38.p14 chr 15	NC_000015.10:g.22872309_22872310del
GRCh38.p14 chr 15	NC_000015.10:g.22872310del
GRCh38.p14 chr 15	NC_000015.10:g.22872310dup
GRCh38.p14 chr 15	NC_000015.10:g.22872309_22872310dup
GRCh38.p14 chr 15	NC_000015.10:g.22872308_22872310dup
GRCh38.p14 chr 15	NC_000015.10:g.22872307_22872310dup
GRCh38.p14 chr 15	NC_000015.10:g.22872306_22872310dup
GRCh38.p14 chr 15	NC_000015.10:g.22872305_22872310dup
GRCh38.p14 chr 15	NC_000015.10:g.22872304_22872310dup
GRCh38.p14 chr 15	NC_000015.10:g.22872303_22872310dup
GRCh38.p14 chr 15	NC_000015.10:g.22872294_22872310A[20]GAAAAAAAAAAAAAAAAAAAA[1]
GRCh37.p13 chr 15	NC_000015.9:g.23000768_23000774del
GRCh37.p13 chr 15	NC_000015.9:g.23000770_23000774del
GRCh37.p13 chr 15	NC_000015.9:g.23000771_23000774del
GRCh37.p13 chr 15	NC_000015.9:g.23000772_23000774del
GRCh37.p13 chr 15	NC_000015.9:g.23000773_23000774del
GRCh37.p13 chr 15	NC_000015.9:g.23000774del
GRCh37.p13 chr 15	NC_000015.9:g.23000774dup
GRCh37.p13 chr 15	NC_000015.9:g.23000773_23000774dup
GRCh37.p13 chr 15	NC_000015.9:g.23000772_23000774dup
GRCh37.p13 chr 15	NC_000015.9:g.23000771_23000774dup
GRCh37.p13 chr 15	NC_000015.9:g.23000770_23000774dup
GRCh37.p13 chr 15	NC_000015.9:g.23000769_23000774dup
GRCh37.p13 chr 15	NC_000015.9:g.23000768_23000774dup
GRCh37.p13 chr 15	NC_000015.9:g.23000767_23000774dup
GRCh37.p13 chr 15	NC_000015.9:g.23000758_23000774T[20]CTTTTTTTTTTTTTTTTTTTT[1]
CYFIP1 RefSeqGene	NG_054889.1:g.113607_113613del
CYFIP1 RefSeqGene	NG_054889.1:g.113609_113613del
CYFIP1 RefSeqGene	NG_054889.1:g.113610_113613del
CYFIP1 RefSeqGene	NG_054889.1:g.113611_113613del
CYFIP1 RefSeqGene	NG_054889.1:g.113612_113613del
CYFIP1 RefSeqGene	NG_054889.1:g.113613del
CYFIP1 RefSeqGene	NG_054889.1:g.113613dup
CYFIP1 RefSeqGene	NG_054889.1:g.113612_113613dup
CYFIP1 RefSeqGene	NG_054889.1:g.113611_113613dup
CYFIP1 RefSeqGene	NG_054889.1:g.113610_113613dup
CYFIP1 RefSeqGene	NG_054889.1:g.113609_113613dup
CYFIP1 RefSeqGene	NG_054889.1:g.113608_113613dup
CYFIP1 RefSeqGene	NG_054889.1:g.113607_113613dup
CYFIP1 RefSeqGene	NG_054889.1:g.113606_113613dup
CYFIP1 RefSeqGene	NG_054889.1:g.113597_113613T[20]CTTTTTTTTTTTTTTTTTTTT[1]
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.3766386dup
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.3766381_3766386del
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.3766383_3766386del
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.3766384_3766386del
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.3766385_3766386del
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.3766386del
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.3766385_3766386dup
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.3766384_3766386dup
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.3766383_3766386dup
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.3766382_3766386dup
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.3766381_3766386dup
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.3766380_3766386dup
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.3766379_3766386dup
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.3766378_3766386dup
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.3766371_3766386A[20]GAAAAAAAAAAAAAAAAAAAA[1]

Gene: CYFIP1, cytoplasmic FMR1 interacting protein 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
CYFIP1 transcript variant 10	NM_001033028.3:c.2304+525… NM_001033028.3:c.2304+525_2304+531del	N/A	Intron Variant
CYFIP1 transcript variant 2	NM_001287810.4:c.3597+525… NM_001287810.4:c.3597+525_3597+531del	N/A	Intron Variant
CYFIP1 transcript variant 5	NM_001324119.2:c.3699+525… NM_001324119.2:c.3699+525_3699+531del	N/A	Intron Variant
CYFIP1 transcript variant 3	NM_001324120.2:c.3597+525… NM_001324120.2:c.3597+525_3597+531del	N/A	Intron Variant
CYFIP1 transcript variant 9	NM_001324122.3:c.1917+525… NM_001324122.3:c.1917+525_1917+531del	N/A	Intron Variant
CYFIP1 transcript variant 4	NM_001324123.3:c.3597+525… NM_001324123.3:c.3597+525_3597+531del	N/A	Intron Variant
CYFIP1 transcript variant 6	NM_001324124.3:c.3507+525… NM_001324124.3:c.3507+525_3507+531del	N/A	Intron Variant
CYFIP1 transcript variant 7	NM_001324125.3:c.3231+525… NM_001324125.3:c.3231+525_3231+531del	N/A	Intron Variant
CYFIP1 transcript variant 8	NM_001324126.3:c.3495+525… NM_001324126.3:c.3495+525_3495+531del	N/A	Intron Variant
CYFIP1 transcript variant 1	NM_014608.6:c.3597+525_35… NM_014608.6:c.3597+525_3597+531del	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	(A)₁₇=	del(A)₇	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅	dup(A)₆	dup(A)₇	dup(A)₈	insAAAG(A)₂₀
GRCh38.p14 chr 15	NC_000015.10:g.22872294_22872310=	NC_000015.10:g.22872304_22872310del	NC_000015.10:g.22872306_22872310del	NC_000015.10:g.22872307_22872310del	NC_000015.10:g.22872308_22872310del	NC_000015.10:g.22872309_22872310del	NC_000015.10:g.22872310del	NC_000015.10:g.22872310dup	NC_000015.10:g.22872309_22872310dup	NC_000015.10:g.22872308_22872310dup	NC_000015.10:g.22872307_22872310dup	NC_000015.10:g.22872306_22872310dup	NC_000015.10:g.22872305_22872310dup	NC_000015.10:g.22872304_22872310dup	NC_000015.10:g.22872303_22872310dup	NC_000015.10:g.22872294_22872310A[20]GAAAAAAAAAAAAAAAAAAAA[1]
GRCh37.p13 chr 15	NC_000015.9:g.23000758_23000774=	NC_000015.9:g.23000768_23000774del	NC_000015.9:g.23000770_23000774del	NC_000015.9:g.23000771_23000774del	NC_000015.9:g.23000772_23000774del	NC_000015.9:g.23000773_23000774del	NC_000015.9:g.23000774del	NC_000015.9:g.23000774dup	NC_000015.9:g.23000773_23000774dup	NC_000015.9:g.23000772_23000774dup	NC_000015.9:g.23000771_23000774dup	NC_000015.9:g.23000770_23000774dup	NC_000015.9:g.23000769_23000774dup	NC_000015.9:g.23000768_23000774dup	NC_000015.9:g.23000767_23000774dup	NC_000015.9:g.23000758_23000774T[20]CTTTTTTTTTTTTTTTTTTTT[1]
CYFIP1 RefSeqGene	NG_054889.1:g.113597_113613=	NG_054889.1:g.113607_113613del	NG_054889.1:g.113609_113613del	NG_054889.1:g.113610_113613del	NG_054889.1:g.113611_113613del	NG_054889.1:g.113612_113613del	NG_054889.1:g.113613del	NG_054889.1:g.113613dup	NG_054889.1:g.113612_113613dup	NG_054889.1:g.113611_113613dup	NG_054889.1:g.113610_113613dup	NG_054889.1:g.113609_113613dup	NG_054889.1:g.113608_113613dup	NG_054889.1:g.113607_113613dup	NG_054889.1:g.113606_113613dup	NG_054889.1:g.113597_113613T[20]CTTTTTTTTTTTTTTTTTTTT[1]
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.3766386dup	NW_021160017.1:g.3766381_3766386del	NW_021160017.1:g.3766383_3766386del	NW_021160017.1:g.3766384_3766386del	NW_021160017.1:g.3766385_3766386del	NW_021160017.1:g.3766386del	NW_021160017.1:g.3766371_3766386=	NW_021160017.1:g.3766385_3766386dup	NW_021160017.1:g.3766384_3766386dup	NW_021160017.1:g.3766383_3766386dup	NW_021160017.1:g.3766382_3766386dup	NW_021160017.1:g.3766381_3766386dup	NW_021160017.1:g.3766380_3766386dup	NW_021160017.1:g.3766379_3766386dup	NW_021160017.1:g.3766378_3766386dup	NW_021160017.1:g.3766371_3766386A[20]GAAAAAAAAAAAAAAAAAAAA[1]
CYFIP1 transcript variant 2	NM_001033028.1:c.2304+515=	NM_001033028.1:c.2304+525_2304+531del	NM_001033028.1:c.2304+527_2304+531del	NM_001033028.1:c.2304+528_2304+531del	NM_001033028.1:c.2304+529_2304+531del	NM_001033028.1:c.2304+530_2304+531del	NM_001033028.1:c.2304+531del	NM_001033028.1:c.2304+531dup	NM_001033028.1:c.2304+530_2304+531dup	NM_001033028.1:c.2304+529_2304+531dup	NM_001033028.1:c.2304+528_2304+531dup	NM_001033028.1:c.2304+527_2304+531dup	NM_001033028.1:c.2304+526_2304+531dup	NM_001033028.1:c.2304+525_2304+531dup	NM_001033028.1:c.2304+524_2304+531dup	NM_001033028.1:c.2304+531_2304+532insTTTCTTTTTTTTTTTTTTTTTTTT
CYFIP1 transcript variant 10	NM_001033028.3:c.2304+531=	NM_001033028.3:c.2304+525_2304+531del	NM_001033028.3:c.2304+527_2304+531del	NM_001033028.3:c.2304+528_2304+531del	NM_001033028.3:c.2304+529_2304+531del	NM_001033028.3:c.2304+530_2304+531del	NM_001033028.3:c.2304+531del	NM_001033028.3:c.2304+531dup	NM_001033028.3:c.2304+530_2304+531dup	NM_001033028.3:c.2304+529_2304+531dup	NM_001033028.3:c.2304+528_2304+531dup	NM_001033028.3:c.2304+527_2304+531dup	NM_001033028.3:c.2304+526_2304+531dup	NM_001033028.3:c.2304+525_2304+531dup	NM_001033028.3:c.2304+524_2304+531dup	NM_001033028.3:c.2304+531_2304+532insTTTTTTTTTTTTTTTTTTTTCTTT
CYFIP1 transcript variant 2	NM_001287810.4:c.3597+531=	NM_001287810.4:c.3597+525_3597+531del	NM_001287810.4:c.3597+527_3597+531del	NM_001287810.4:c.3597+528_3597+531del	NM_001287810.4:c.3597+529_3597+531del	NM_001287810.4:c.3597+530_3597+531del	NM_001287810.4:c.3597+531del	NM_001287810.4:c.3597+531dup	NM_001287810.4:c.3597+530_3597+531dup	NM_001287810.4:c.3597+529_3597+531dup	NM_001287810.4:c.3597+528_3597+531dup	NM_001287810.4:c.3597+527_3597+531dup	NM_001287810.4:c.3597+526_3597+531dup	NM_001287810.4:c.3597+525_3597+531dup	NM_001287810.4:c.3597+524_3597+531dup	NM_001287810.4:c.3597+531_3597+532insTTTTTTTTTTTTTTTTTTTTCTTT
CYFIP1 transcript variant 5	NM_001324119.2:c.3699+531=	NM_001324119.2:c.3699+525_3699+531del	NM_001324119.2:c.3699+527_3699+531del	NM_001324119.2:c.3699+528_3699+531del	NM_001324119.2:c.3699+529_3699+531del	NM_001324119.2:c.3699+530_3699+531del	NM_001324119.2:c.3699+531del	NM_001324119.2:c.3699+531dup	NM_001324119.2:c.3699+530_3699+531dup	NM_001324119.2:c.3699+529_3699+531dup	NM_001324119.2:c.3699+528_3699+531dup	NM_001324119.2:c.3699+527_3699+531dup	NM_001324119.2:c.3699+526_3699+531dup	NM_001324119.2:c.3699+525_3699+531dup	NM_001324119.2:c.3699+524_3699+531dup	NM_001324119.2:c.3699+531_3699+532insTTTTTTTTTTTTTTTTTTTTCTTT
CYFIP1 transcript variant 3	NM_001324120.2:c.3597+531=	NM_001324120.2:c.3597+525_3597+531del	NM_001324120.2:c.3597+527_3597+531del	NM_001324120.2:c.3597+528_3597+531del	NM_001324120.2:c.3597+529_3597+531del	NM_001324120.2:c.3597+530_3597+531del	NM_001324120.2:c.3597+531del	NM_001324120.2:c.3597+531dup	NM_001324120.2:c.3597+530_3597+531dup	NM_001324120.2:c.3597+529_3597+531dup	NM_001324120.2:c.3597+528_3597+531dup	NM_001324120.2:c.3597+527_3597+531dup	NM_001324120.2:c.3597+526_3597+531dup	NM_001324120.2:c.3597+525_3597+531dup	NM_001324120.2:c.3597+524_3597+531dup	NM_001324120.2:c.3597+531_3597+532insTTTTTTTTTTTTTTTTTTTTCTTT
CYFIP1 transcript variant 9	NM_001324122.3:c.1917+531=	NM_001324122.3:c.1917+525_1917+531del	NM_001324122.3:c.1917+527_1917+531del	NM_001324122.3:c.1917+528_1917+531del	NM_001324122.3:c.1917+529_1917+531del	NM_001324122.3:c.1917+530_1917+531del	NM_001324122.3:c.1917+531del	NM_001324122.3:c.1917+531dup	NM_001324122.3:c.1917+530_1917+531dup	NM_001324122.3:c.1917+529_1917+531dup	NM_001324122.3:c.1917+528_1917+531dup	NM_001324122.3:c.1917+527_1917+531dup	NM_001324122.3:c.1917+526_1917+531dup	NM_001324122.3:c.1917+525_1917+531dup	NM_001324122.3:c.1917+524_1917+531dup	NM_001324122.3:c.1917+531_1917+532insTTTTTTTTTTTTTTTTTTTTCTTT
CYFIP1 transcript variant 4	NM_001324123.3:c.3597+531=	NM_001324123.3:c.3597+525_3597+531del	NM_001324123.3:c.3597+527_3597+531del	NM_001324123.3:c.3597+528_3597+531del	NM_001324123.3:c.3597+529_3597+531del	NM_001324123.3:c.3597+530_3597+531del	NM_001324123.3:c.3597+531del	NM_001324123.3:c.3597+531dup	NM_001324123.3:c.3597+530_3597+531dup	NM_001324123.3:c.3597+529_3597+531dup	NM_001324123.3:c.3597+528_3597+531dup	NM_001324123.3:c.3597+527_3597+531dup	NM_001324123.3:c.3597+526_3597+531dup	NM_001324123.3:c.3597+525_3597+531dup	NM_001324123.3:c.3597+524_3597+531dup	NM_001324123.3:c.3597+531_3597+532insTTTTTTTTTTTTTTTTTTTTCTTT
CYFIP1 transcript variant 6	NM_001324124.3:c.3507+531=	NM_001324124.3:c.3507+525_3507+531del	NM_001324124.3:c.3507+527_3507+531del	NM_001324124.3:c.3507+528_3507+531del	NM_001324124.3:c.3507+529_3507+531del	NM_001324124.3:c.3507+530_3507+531del	NM_001324124.3:c.3507+531del	NM_001324124.3:c.3507+531dup	NM_001324124.3:c.3507+530_3507+531dup	NM_001324124.3:c.3507+529_3507+531dup	NM_001324124.3:c.3507+528_3507+531dup	NM_001324124.3:c.3507+527_3507+531dup	NM_001324124.3:c.3507+526_3507+531dup	NM_001324124.3:c.3507+525_3507+531dup	NM_001324124.3:c.3507+524_3507+531dup	NM_001324124.3:c.3507+531_3507+532insTTTTTTTTTTTTTTTTTTTTCTTT
CYFIP1 transcript variant 7	NM_001324125.3:c.3231+531=	NM_001324125.3:c.3231+525_3231+531del	NM_001324125.3:c.3231+527_3231+531del	NM_001324125.3:c.3231+528_3231+531del	NM_001324125.3:c.3231+529_3231+531del	NM_001324125.3:c.3231+530_3231+531del	NM_001324125.3:c.3231+531del	NM_001324125.3:c.3231+531dup	NM_001324125.3:c.3231+530_3231+531dup	NM_001324125.3:c.3231+529_3231+531dup	NM_001324125.3:c.3231+528_3231+531dup	NM_001324125.3:c.3231+527_3231+531dup	NM_001324125.3:c.3231+526_3231+531dup	NM_001324125.3:c.3231+525_3231+531dup	NM_001324125.3:c.3231+524_3231+531dup	NM_001324125.3:c.3231+531_3231+532insTTTTTTTTTTTTTTTTTTTTCTTT
CYFIP1 transcript variant 8	NM_001324126.3:c.3495+531=	NM_001324126.3:c.3495+525_3495+531del	NM_001324126.3:c.3495+527_3495+531del	NM_001324126.3:c.3495+528_3495+531del	NM_001324126.3:c.3495+529_3495+531del	NM_001324126.3:c.3495+530_3495+531del	NM_001324126.3:c.3495+531del	NM_001324126.3:c.3495+531dup	NM_001324126.3:c.3495+530_3495+531dup	NM_001324126.3:c.3495+529_3495+531dup	NM_001324126.3:c.3495+528_3495+531dup	NM_001324126.3:c.3495+527_3495+531dup	NM_001324126.3:c.3495+526_3495+531dup	NM_001324126.3:c.3495+525_3495+531dup	NM_001324126.3:c.3495+524_3495+531dup	NM_001324126.3:c.3495+531_3495+532insTTTTTTTTTTTTTTTTTTTTCTTT
CYFIP1 transcript variant 1	NM_014608.2:c.3597+515=	NM_014608.2:c.3597+525_3597+531del	NM_014608.2:c.3597+527_3597+531del	NM_014608.2:c.3597+528_3597+531del	NM_014608.2:c.3597+529_3597+531del	NM_014608.2:c.3597+530_3597+531del	NM_014608.2:c.3597+531del	NM_014608.2:c.3597+531dup	NM_014608.2:c.3597+530_3597+531dup	NM_014608.2:c.3597+529_3597+531dup	NM_014608.2:c.3597+528_3597+531dup	NM_014608.2:c.3597+527_3597+531dup	NM_014608.2:c.3597+526_3597+531dup	NM_014608.2:c.3597+525_3597+531dup	NM_014608.2:c.3597+524_3597+531dup	NM_014608.2:c.3597+531_3597+532insTTTCTTTTTTTTTTTTTTTTTTTT
CYFIP1 transcript variant 1	NM_014608.6:c.3597+531=	NM_014608.6:c.3597+525_3597+531del	NM_014608.6:c.3597+527_3597+531del	NM_014608.6:c.3597+528_3597+531del	NM_014608.6:c.3597+529_3597+531del	NM_014608.6:c.3597+530_3597+531del	NM_014608.6:c.3597+531del	NM_014608.6:c.3597+531dup	NM_014608.6:c.3597+530_3597+531dup	NM_014608.6:c.3597+529_3597+531dup	NM_014608.6:c.3597+528_3597+531dup	NM_014608.6:c.3597+527_3597+531dup	NM_014608.6:c.3597+526_3597+531dup	NM_014608.6:c.3597+525_3597+531dup	NM_014608.6:c.3597+524_3597+531dup	NM_014608.6:c.3597+531_3597+532insTTTTTTTTTTTTTTTTTTTTCTTT
CYFIP1 transcript variant X1	XM_005272542.1:c.3603+515=	XM_005272542.1:c.3603+525_3603+531del	XM_005272542.1:c.3603+527_3603+531del	XM_005272542.1:c.3603+528_3603+531del	XM_005272542.1:c.3603+529_3603+531del	XM_005272542.1:c.3603+530_3603+531del	XM_005272542.1:c.3603+531del	XM_005272542.1:c.3603+531dup	XM_005272542.1:c.3603+530_3603+531dup	XM_005272542.1:c.3603+529_3603+531dup	XM_005272542.1:c.3603+528_3603+531dup	XM_005272542.1:c.3603+527_3603+531dup	XM_005272542.1:c.3603+526_3603+531dup	XM_005272542.1:c.3603+525_3603+531dup	XM_005272542.1:c.3603+524_3603+531dup	XM_005272542.1:c.3603+531_3603+532insTTTCTTTTTTTTTTTTTTTTTTTT
CYFIP1 transcript variant X2	XM_005272543.1:c.3597+515=	XM_005272543.1:c.3597+525_3597+531del	XM_005272543.1:c.3597+527_3597+531del	XM_005272543.1:c.3597+528_3597+531del	XM_005272543.1:c.3597+529_3597+531del	XM_005272543.1:c.3597+530_3597+531del	XM_005272543.1:c.3597+531del	XM_005272543.1:c.3597+531dup	XM_005272543.1:c.3597+530_3597+531dup	XM_005272543.1:c.3597+529_3597+531dup	XM_005272543.1:c.3597+528_3597+531dup	XM_005272543.1:c.3597+527_3597+531dup	XM_005272543.1:c.3597+526_3597+531dup	XM_005272543.1:c.3597+525_3597+531dup	XM_005272543.1:c.3597+524_3597+531dup	XM_005272543.1:c.3597+531_3597+532insTTTCTTTTTTTTTTTTTTTTTTTT
CYFIP1 transcript variant X3	XM_005272544.1:c.3597+515=	XM_005272544.1:c.3597+525_3597+531del	XM_005272544.1:c.3597+527_3597+531del	XM_005272544.1:c.3597+528_3597+531del	XM_005272544.1:c.3597+529_3597+531del	XM_005272544.1:c.3597+530_3597+531del	XM_005272544.1:c.3597+531del	XM_005272544.1:c.3597+531dup	XM_005272544.1:c.3597+530_3597+531dup	XM_005272544.1:c.3597+529_3597+531dup	XM_005272544.1:c.3597+528_3597+531dup	XM_005272544.1:c.3597+527_3597+531dup	XM_005272544.1:c.3597+526_3597+531dup	XM_005272544.1:c.3597+525_3597+531dup	XM_005272544.1:c.3597+524_3597+531dup	XM_005272544.1:c.3597+531_3597+532insTTTCTTTTTTTTTTTTTTTTTTTT
CYFIP1 transcript variant X4	XM_005272545.1:c.3591+515=	XM_005272545.1:c.3591+525_3591+531del	XM_005272545.1:c.3591+527_3591+531del	XM_005272545.1:c.3591+528_3591+531del	XM_005272545.1:c.3591+529_3591+531del	XM_005272545.1:c.3591+530_3591+531del	XM_005272545.1:c.3591+531del	XM_005272545.1:c.3591+531dup	XM_005272545.1:c.3591+530_3591+531dup	XM_005272545.1:c.3591+529_3591+531dup	XM_005272545.1:c.3591+528_3591+531dup	XM_005272545.1:c.3591+527_3591+531dup	XM_005272545.1:c.3591+526_3591+531dup	XM_005272545.1:c.3591+525_3591+531dup	XM_005272545.1:c.3591+524_3591+531dup	XM_005272545.1:c.3591+531_3591+532insTTTCTTTTTTTTTTTTTTTTTTTT

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#.

56 SubSNP, 29 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss81152715	Sep 08, 2015 (146)
2	GMI	ss289245787	May 04, 2012 (137)
3	PJP	ss294850475	May 09, 2011 (137)
4	SSMP	ss664259369	Apr 01, 2015 (144)
5	BILGI_BIOE	ss666641766	Apr 25, 2013 (138)
6	EVA_GENOME_DK	ss1574828898	Apr 01, 2015 (144)
7	EVA_UK10K_ALSPAC	ss1708215023	Apr 01, 2015 (144)
8	EVA_UK10K_TWINSUK	ss1708215041	Apr 01, 2015 (144)
9	EVA_UK10K_ALSPAC	ss1710656999	Apr 01, 2015 (144)
10	EVA_UK10K_TWINSUK	ss1710657000	Apr 01, 2015 (144)
11	EVA_UK10K_ALSPAC	ss1710657001	Jan 10, 2018 (151)
12	EVA_UK10K_TWINSUK	ss1710657002	Jan 10, 2018 (151)
13	HAMMER_LAB	ss1808109615	Sep 08, 2015 (146)
14	MCHAISSO	ss3064647066	Nov 08, 2017 (151)
15	MCHAISSO	ss3065577164	Nov 08, 2017 (151)
16	URBANLAB	ss3650305561	Oct 12, 2018 (152)
17	EVA_DECODE	ss3697504906	Jul 13, 2019 (153)
18	EVA_DECODE	ss3697504907	Jul 13, 2019 (153)
19	EVA_DECODE	ss3697504908	Jul 13, 2019 (153)
20	EVA_DECODE	ss3697504909	Jul 13, 2019 (153)
21	EVA_DECODE	ss3697504910	Jul 13, 2019 (153)
22	EVA_DECODE	ss3697504911	Jul 13, 2019 (153)
23	PACBIO	ss3787787924	Jul 13, 2019 (153)
24	EVA	ss3834134505	Apr 27, 2020 (154)
25	GNOMAD	ss4285268267	Apr 27, 2021 (155)
26	GNOMAD	ss4285268268	Apr 27, 2021 (155)
27	GNOMAD	ss4285268269	Apr 27, 2021 (155)
28	GNOMAD	ss4285268270	Apr 27, 2021 (155)
29	GNOMAD	ss4285268271	Apr 27, 2021 (155)
30	GNOMAD	ss4285268272	Apr 27, 2021 (155)
31	GNOMAD	ss4285268273	Apr 27, 2021 (155)
32	GNOMAD	ss4285268274	Apr 27, 2021 (155)
33	GNOMAD	ss4285268275	Apr 27, 2021 (155)
34	GNOMAD	ss4285268276	Apr 27, 2021 (155)
35	GNOMAD	ss4285268277	Apr 27, 2021 (155)
36	GNOMAD	ss4285268278	Apr 27, 2021 (155)
37	GNOMAD	ss4285268279	Apr 27, 2021 (155)
38	GNOMAD	ss4285268280	Apr 27, 2021 (155)
39	GNOMAD	ss4285268281	Apr 27, 2021 (155)
40	TOMMO_GENOMICS	ss5215209618	Apr 27, 2021 (155)
41	TOMMO_GENOMICS	ss5215209619	Apr 27, 2021 (155)
42	TOMMO_GENOMICS	ss5215209620	Apr 27, 2021 (155)
43	TOMMO_GENOMICS	ss5215209621	Apr 27, 2021 (155)
44	1000G_HIGH_COVERAGE	ss5297710680	Oct 16, 2022 (156)
45	1000G_HIGH_COVERAGE	ss5297710682	Oct 16, 2022 (156)
46	1000G_HIGH_COVERAGE	ss5297710683	Oct 16, 2022 (156)
47	1000G_HIGH_COVERAGE	ss5297710684	Oct 16, 2022 (156)
48	1000G_HIGH_COVERAGE	ss5297710685	Oct 16, 2022 (156)
49	HUGCELL_USP	ss5491550508	Oct 16, 2022 (156)
50	HUGCELL_USP	ss5491550509	Oct 16, 2022 (156)
51	HUGCELL_USP	ss5491550510	Oct 16, 2022 (156)
52	HUGCELL_USP	ss5491550511	Oct 16, 2022 (156)
53	TOMMO_GENOMICS	ss5768735050	Oct 16, 2022 (156)
54	TOMMO_GENOMICS	ss5768735051	Oct 16, 2022 (156)
55	TOMMO_GENOMICS	ss5768735052	Oct 16, 2022 (156)
56	TOMMO_GENOMICS	ss5768735054	Oct 16, 2022 (156)
57	The Avon Longitudinal Study of Parents and Children	NC_000015.9 - 23000758	Oct 12, 2018 (152)
58	The Danish reference pan genome	NC_000015.9 - 23000758	Apr 27, 2020 (154)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 463155826 (NC_000015.10:22872293::A 670/101944) Row 463155827 (NC_000015.10:22872293::AA 2/102000) Row 463155828 (NC_000015.10:22872293::AAA 23/102006)...	-	Apr 27, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 463155826 (NC_000015.10:22872293::A 670/101944) Row 463155827 (NC_000015.10:22872293::AA 2/102000) Row 463155828 (NC_000015.10:22872293::AAA 23/102006)...	-	Apr 27, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 463155826 (NC_000015.10:22872293::A 670/101944) Row 463155827 (NC_000015.10:22872293::AA 2/102000) Row 463155828 (NC_000015.10:22872293::AAA 23/102006)...	-	Apr 27, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 463155826 (NC_000015.10:22872293::A 670/101944) Row 463155827 (NC_000015.10:22872293::AA 2/102000) Row 463155828 (NC_000015.10:22872293::AAA 23/102006)...	-	Apr 27, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 463155826 (NC_000015.10:22872293::A 670/101944) Row 463155827 (NC_000015.10:22872293::AA 2/102000) Row 463155828 (NC_000015.10:22872293::AAA 23/102006)...	-	Apr 27, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 463155826 (NC_000015.10:22872293::A 670/101944) Row 463155827 (NC_000015.10:22872293::AA 2/102000) Row 463155828 (NC_000015.10:22872293::AAA 23/102006)...	-	Apr 27, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 463155826 (NC_000015.10:22872293::A 670/101944) Row 463155827 (NC_000015.10:22872293::AA 2/102000) Row 463155828 (NC_000015.10:22872293::AAA 23/102006)...	-	Apr 27, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 463155826 (NC_000015.10:22872293::A 670/101944) Row 463155827 (NC_000015.10:22872293::AA 2/102000) Row 463155828 (NC_000015.10:22872293::AAA 23/102006)...	-	Apr 27, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 463155826 (NC_000015.10:22872293::A 670/101944) Row 463155827 (NC_000015.10:22872293::AA 2/102000) Row 463155828 (NC_000015.10:22872293::AAA 23/102006)...	-	Apr 27, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 463155826 (NC_000015.10:22872293::A 670/101944) Row 463155827 (NC_000015.10:22872293::AA 2/102000) Row 463155828 (NC_000015.10:22872293::AAA 23/102006)...	-	Apr 27, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 463155826 (NC_000015.10:22872293::A 670/101944) Row 463155827 (NC_000015.10:22872293::AA 2/102000) Row 463155828 (NC_000015.10:22872293::AAA 23/102006)...	-	Apr 27, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 463155826 (NC_000015.10:22872293::A 670/101944) Row 463155827 (NC_000015.10:22872293::AA 2/102000) Row 463155828 (NC_000015.10:22872293::AAA 23/102006)...	-	Apr 27, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 463155826 (NC_000015.10:22872293::A 670/101944) Row 463155827 (NC_000015.10:22872293::AA 2/102000) Row 463155828 (NC_000015.10:22872293::AAA 23/102006)...	-	Apr 27, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 463155826 (NC_000015.10:22872293::A 670/101944) Row 463155827 (NC_000015.10:22872293::AA 2/102000) Row 463155828 (NC_000015.10:22872293::AAA 23/102006)...	-	Apr 27, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 463155826 (NC_000015.10:22872293::A 670/101944) Row 463155827 (NC_000015.10:22872293::AA 2/102000) Row 463155828 (NC_000015.10:22872293::AAA 23/102006)...	-	Apr 27, 2021 (155)
74	8.3KJPN Submission ignored due to conflicting rows: Row 73178925 (NC_000015.9:23000757:T: 8851/16716) Row 73178926 (NC_000015.9:23000757::T 133/16716) Row 73178927 (NC_000015.9:23000757:TT: 15/16716)...	-	Apr 27, 2021 (155)
75	8.3KJPN Submission ignored due to conflicting rows: Row 73178925 (NC_000015.9:23000757:T: 8851/16716) Row 73178926 (NC_000015.9:23000757::T 133/16716) Row 73178927 (NC_000015.9:23000757:TT: 15/16716)...	-	Apr 27, 2021 (155)
76	8.3KJPN Submission ignored due to conflicting rows: Row 73178925 (NC_000015.9:23000757:T: 8851/16716) Row 73178926 (NC_000015.9:23000757::T 133/16716) Row 73178927 (NC_000015.9:23000757:TT: 15/16716)...	-	Apr 27, 2021 (155)
77	8.3KJPN Submission ignored due to conflicting rows: Row 73178925 (NC_000015.9:23000757:T: 8851/16716) Row 73178926 (NC_000015.9:23000757::T 133/16716) Row 73178927 (NC_000015.9:23000757:TT: 15/16716)...	-	Apr 27, 2021 (155)
78	14KJPN Submission ignored due to conflicting rows: Row 102572154 (NC_000015.10:22872293:A: 12743/25874) Row 102572155 (NC_000015.10:22872293::A 172/25874) Row 102572156 (NC_000015.10:22872293:AA: 25/25874)...	-	Oct 16, 2022 (156)
79	14KJPN Submission ignored due to conflicting rows: Row 102572154 (NC_000015.10:22872293:A: 12743/25874) Row 102572155 (NC_000015.10:22872293::A 172/25874) Row 102572156 (NC_000015.10:22872293:AA: 25/25874)...	-	Oct 16, 2022 (156)
80	14KJPN Submission ignored due to conflicting rows: Row 102572154 (NC_000015.10:22872293:A: 12743/25874) Row 102572155 (NC_000015.10:22872293::A 172/25874) Row 102572156 (NC_000015.10:22872293:AA: 25/25874)...	-	Oct 16, 2022 (156)
81	14KJPN Submission ignored due to conflicting rows: Row 102572154 (NC_000015.10:22872293:A: 12743/25874) Row 102572155 (NC_000015.10:22872293::A 172/25874) Row 102572156 (NC_000015.10:22872293:AA: 25/25874)...	-	Oct 16, 2022 (156)
82	UK 10K study - Twins Submission ignored due to conflicting rows: Row 36489114 (NC_000015.9:23000760:T: 2919/3708) Row 36489115 (NC_000015.9:23000759:TT: 195/3708) Row 36489116 (NC_000015.9:23000757:TTTT: 65/3708)	-	Apr 27, 2020 (154)
83	UK 10K study - Twins Submission ignored due to conflicting rows: Row 36489114 (NC_000015.9:23000760:T: 2919/3708) Row 36489115 (NC_000015.9:23000759:TT: 195/3708) Row 36489116 (NC_000015.9:23000757:TTTT: 65/3708)	-	Apr 27, 2020 (154)
84	UK 10K study - Twins	-	Oct 12, 2018 (152)
85	ALFA	NC_000015.10 - 22872294	Apr 27, 2021 (155)

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

Associated ID	History Updated (Build)
rs35735767	May 23, 2006 (127)
rs60655757	May 11, 2012 (137)
rs148090925	May 11, 2012 (137)
rs373544708	May 13, 2013 (138)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss5215209621	NC_000015.9:23000757:TTTTTTT:	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
ss4285268281, ss5768735054	NC_000015.10:22872293:AAAAAAA:	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
3985344686	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAA	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
ss3697504911, ss4285268280	NC_000015.10:22872293:AAAAA:	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
3985344686	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
36489116, ss1708215023, ss1708215041, ss3834134505	NC_000015.9:23000757:TTTT:	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4285268279, ss5297710682, ss5491550510	NC_000015.10:22872293:AAAA:	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
3985344686	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3697504910	NC_000015.10:22872294:AAAA:	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4285268278	NC_000015.10:22872293:AAA:	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
3985344686	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss3697504909	NC_000015.10:22872295:AAA:	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss1808109615, ss5215209620	NC_000015.9:23000757:TT:	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss1710657001, ss1710657002	NC_000015.9:23000759:TT:	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4285268277, ss5297710684, ss5491550508, ss5768735052	NC_000015.10:22872293:AA:	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
3985344686	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3697504908	NC_000015.10:22872296:AA:	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss289245787, ss294850475	NC_000015.8:20552198:T:	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss81152715	NC_000015.8:20552214:T:	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
476415, ss664259369, ss666641766, ss1574828898, ss3787787924, ss5215209618	NC_000015.9:23000757:T:	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss1710656999, ss1710657000	NC_000015.9:23000760:T:	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3064647066, ss3065577164, ss3650305561, ss4285268276, ss5297710680, ss5491550509, ss5768735050	NC_000015.10:22872293:A:	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
3985344686	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3697504907	NC_000015.10:22872297:A:	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss5215209619	NC_000015.9:23000757::T	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4285268267, ss5297710683, ss5491550511, ss5768735051	NC_000015.10:22872293::A	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
3985344686	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3697504906	NC_000015.10:22872298::A	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4285268268	NC_000015.10:22872293::AA	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
3985344686	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4285268269	NC_000015.10:22872293::AAA	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
3985344686	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4285268270, ss5297710685	NC_000015.10:22872293::AAAA	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
3985344686	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4285268271	NC_000015.10:22872293::AAAAA	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
3985344686	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4285268272	NC_000015.10:22872293::AAAAAA	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
3985344686	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4285268273	NC_000015.10:22872293::AAAAAAA	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4285268274	NC_000015.10:22872293::AAAAAAAA	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4285268275	NC_000015.10:22872293::AAAAAAAAAAA… NC_000015.10:22872293::AAAAAAAAAAAAAAAAAAAAGAAA	NC_000015.10:22872293:AAAAAAAAAAAA… NC_000015.10:22872293:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAA	(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 rs11327088

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

rs11327088