Name: rs397761069
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.

rs397761069

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr15:22973312-22973335 (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)₁₄ / del(A)₁₃ / del(A)₁₂ / d…
del(A)₁₄ / del(A)₁₃ / del(A)₁₂ / del(A)₁₁ / del(A)₁₀ / del(A)₉ / del(A)₈ / del(A)₇ / del(A)₆ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₇
Variation Type: Indel Insertion and Deletion
Frequency: delA=0.0518 (440/8500, ALFA)
del(A)₄=0.07 (3/40, 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	8500	AAAAAAAAAAAAAAAAAAAAAAAA=0.8914	AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0134, AAAAAAAAAAAAAAAAAAAAA=0.0173, AAAAAAAAAAAAAAAAAAAAAA=0.0040, AAAAAAAAAAAAAAAAAAAAAAA=0.0518, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0205, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0016, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	0.904008	0.002901	0.093091	0
European	Sub	7354	AAAAAAAAAAAAAAAAAAAAAAAA=0.8748	AAAAAAAAAA=0.0000, AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0155, AAAAAAAAAAAAAAAAAAAAA=0.0200, AAAAAAAAAAAAAAAAAAAAAA=0.0046, AAAAAAAAAAAAAAAAAAAAAAA=0.0598, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0234, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0019, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	0.886992	0.003415	0.109593	0
African	Sub	460	AAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	14	AAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	446	AAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	70	AAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	56	AAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	14	AAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	58	AAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	330	AAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	52	AAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	176	AAAAAAAAAAAAAAAAAAAAAAAA=0.989	AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.011, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A

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

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	8500	(A)₂₄=0.8914	del(A)₁₄=0.0000, del(A)₁₃=0.0000, del(A)₁₂=0.0000, del(A)₁₁=0.0000, del(A)₁₀=0.0000, del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, del(A)₄=0.0134, delAAA=0.0173, delAA=0.0040, delA=0.0518, dupA=0.0205, dupAA=0.0016, dupAAA=0.0000
Allele Frequency Aggregator	European	Sub	7354	(A)₂₄=0.8748	del(A)₁₄=0.0000, del(A)₁₃=0.0000, del(A)₁₂=0.0000, del(A)₁₁=0.0000, del(A)₁₀=0.0000, del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, del(A)₄=0.0155, delAAA=0.0200, delAA=0.0046, delA=0.0598, dupA=0.0234, dupAA=0.0019, dupAAA=0.0000
Allele Frequency Aggregator	African	Sub	460	(A)₂₄=1.000	del(A)₁₄=0.000, del(A)₁₃=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=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
Allele Frequency Aggregator	Latin American 2	Sub	330	(A)₂₄=1.000	del(A)₁₄=0.000, del(A)₁₃=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=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
Allele Frequency Aggregator	Other	Sub	176	(A)₂₄=0.989	del(A)₁₄=0.000, del(A)₁₃=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.011, dupAA=0.000, dupAAA=0.000
Allele Frequency Aggregator	Asian	Sub	70	(A)₂₄=1.00	del(A)₁₄=0.00, del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=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
Allele Frequency Aggregator	Latin American 1	Sub	58	(A)₂₄=1.00	del(A)₁₄=0.00, del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=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
Allele Frequency Aggregator	South Asian	Sub	52	(A)₂₄=1.00	del(A)₁₄=0.00, del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=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
The Danish reference pan genome	Danish	Study-wide	40	(A)₂₄=0.93	del(A)₄=0.07

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.22973322_22973335del
GRCh38.p14 chr 15	NC_000015.10:g.22973323_22973335del
GRCh38.p14 chr 15	NC_000015.10:g.22973324_22973335del
GRCh38.p14 chr 15	NC_000015.10:g.22973325_22973335del
GRCh38.p14 chr 15	NC_000015.10:g.22973326_22973335del
GRCh38.p14 chr 15	NC_000015.10:g.22973327_22973335del
GRCh38.p14 chr 15	NC_000015.10:g.22973328_22973335del
GRCh38.p14 chr 15	NC_000015.10:g.22973329_22973335del
GRCh38.p14 chr 15	NC_000015.10:g.22973330_22973335del
GRCh38.p14 chr 15	NC_000015.10:g.22973331_22973335del
GRCh38.p14 chr 15	NC_000015.10:g.22973332_22973335del
GRCh38.p14 chr 15	NC_000015.10:g.22973333_22973335del
GRCh38.p14 chr 15	NC_000015.10:g.22973334_22973335del
GRCh38.p14 chr 15	NC_000015.10:g.22973335del
GRCh38.p14 chr 15	NC_000015.10:g.22973335dup
GRCh38.p14 chr 15	NC_000015.10:g.22973334_22973335dup
GRCh38.p14 chr 15	NC_000015.10:g.22973333_22973335dup
GRCh38.p14 chr 15	NC_000015.10:g.22973329_22973335dup
GRCh37.p13 chr 15	NC_000015.9:g.22899743_22899756del
GRCh37.p13 chr 15	NC_000015.9:g.22899744_22899756del
GRCh37.p13 chr 15	NC_000015.9:g.22899745_22899756del
GRCh37.p13 chr 15	NC_000015.9:g.22899746_22899756del
GRCh37.p13 chr 15	NC_000015.9:g.22899747_22899756del
GRCh37.p13 chr 15	NC_000015.9:g.22899748_22899756del
GRCh37.p13 chr 15	NC_000015.9:g.22899749_22899756del
GRCh37.p13 chr 15	NC_000015.9:g.22899750_22899756del
GRCh37.p13 chr 15	NC_000015.9:g.22899751_22899756del
GRCh37.p13 chr 15	NC_000015.9:g.22899752_22899756del
GRCh37.p13 chr 15	NC_000015.9:g.22899753_22899756del
GRCh37.p13 chr 15	NC_000015.9:g.22899754_22899756del
GRCh37.p13 chr 15	NC_000015.9:g.22899755_22899756del
GRCh37.p13 chr 15	NC_000015.9:g.22899756del
GRCh37.p13 chr 15	NC_000015.9:g.22899756dup
GRCh37.p13 chr 15	NC_000015.9:g.22899755_22899756dup
GRCh37.p13 chr 15	NC_000015.9:g.22899754_22899756dup
GRCh37.p13 chr 15	NC_000015.9:g.22899750_22899756dup
CYFIP1 RefSeqGene	NG_054889.1:g.12582_12595del
CYFIP1 RefSeqGene	NG_054889.1:g.12583_12595del
CYFIP1 RefSeqGene	NG_054889.1:g.12584_12595del
CYFIP1 RefSeqGene	NG_054889.1:g.12585_12595del
CYFIP1 RefSeqGene	NG_054889.1:g.12586_12595del
CYFIP1 RefSeqGene	NG_054889.1:g.12587_12595del
CYFIP1 RefSeqGene	NG_054889.1:g.12588_12595del
CYFIP1 RefSeqGene	NG_054889.1:g.12589_12595del
CYFIP1 RefSeqGene	NG_054889.1:g.12590_12595del
CYFIP1 RefSeqGene	NG_054889.1:g.12591_12595del
CYFIP1 RefSeqGene	NG_054889.1:g.12592_12595del
CYFIP1 RefSeqGene	NG_054889.1:g.12593_12595del
CYFIP1 RefSeqGene	NG_054889.1:g.12594_12595del
CYFIP1 RefSeqGene	NG_054889.1:g.12595del
CYFIP1 RefSeqGene	NG_054889.1:g.12595dup
CYFIP1 RefSeqGene	NG_054889.1:g.12594_12595dup
CYFIP1 RefSeqGene	NG_054889.1:g.12593_12595dup
CYFIP1 RefSeqGene	NG_054889.1:g.12589_12595dup
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.3867407_3867420del
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.3867408_3867420del
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.3867409_3867420del
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.3867410_3867420del
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.3867411_3867420del
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.3867412_3867420del
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.3867413_3867420del
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.3867414_3867420del
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.3867415_3867420del
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.3867416_3867420del
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.3867417_3867420del
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.3867418_3867420del
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.3867419_3867420del
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.3867420del
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.3867420dup
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.3867419_3867420dup
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.3867418_3867420dup
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.3867414_3867420dup
GRCh38.p14 chr 15 alt locus HSCHR15_1_CTG3	NT_187603.1:g.70341_70342dup
GRCh38.p14 chr 15 alt locus HSCHR15_1_CTG3	NT_187603.1:g.70331_70342del
GRCh38.p14 chr 15 alt locus HSCHR15_1_CTG3	NT_187603.1:g.70332_70342del
GRCh38.p14 chr 15 alt locus HSCHR15_1_CTG3	NT_187603.1:g.70333_70342del
GRCh38.p14 chr 15 alt locus HSCHR15_1_CTG3	NT_187603.1:g.70334_70342del
GRCh38.p14 chr 15 alt locus HSCHR15_1_CTG3	NT_187603.1:g.70335_70342del
GRCh38.p14 chr 15 alt locus HSCHR15_1_CTG3	NT_187603.1:g.70336_70342del
GRCh38.p14 chr 15 alt locus HSCHR15_1_CTG3	NT_187603.1:g.70337_70342del
GRCh38.p14 chr 15 alt locus HSCHR15_1_CTG3	NT_187603.1:g.70338_70342del
GRCh38.p14 chr 15 alt locus HSCHR15_1_CTG3	NT_187603.1:g.70339_70342del
GRCh38.p14 chr 15 alt locus HSCHR15_1_CTG3	NT_187603.1:g.70340_70342del
GRCh38.p14 chr 15 alt locus HSCHR15_1_CTG3	NT_187603.1:g.70341_70342del
GRCh38.p14 chr 15 alt locus HSCHR15_1_CTG3	NT_187603.1:g.70342del
GRCh38.p14 chr 15 alt locus HSCHR15_1_CTG3	NT_187603.1:g.70342dup
GRCh38.p14 chr 15 alt locus HSCHR15_1_CTG3	NT_187603.1:g.70340_70342dup
GRCh38.p14 chr 15 alt locus HSCHR15_1_CTG3	NT_187603.1:g.70339_70342dup
GRCh38.p14 chr 15 alt locus HSCHR15_1_CTG3	NT_187603.1:g.70338_70342dup
GRCh38.p14 chr 15 alt locus HSCHR15_1_CTG3	NT_187603.1:g.70334_70342dup

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

Molecule type	Change	Amino acid[Codon]	SO Term
CYFIP1 transcript variant 2	NM_001287810.4:c.-126+696… NM_001287810.4:c.-126+6962_-126+6975del	N/A	Intron Variant
CYFIP1 transcript variant 5	NM_001324119.2:c.96+7471_… NM_001324119.2:c.96+7471_96+7484del	N/A	Intron Variant
CYFIP1 transcript variant 3	NM_001324120.2:c.-7+7243_… NM_001324120.2:c.-7+7243_-7+7256del	N/A	Intron Variant
CYFIP1 transcript variant 9	NM_001324122.3:c.-1835+69… NM_001324122.3:c.-1835+6962_-1835+6975del	N/A	Intron Variant
CYFIP1 transcript variant 4	NM_001324123.3:c.-34+6962… NM_001324123.3:c.-34+6962_-34+6975del	N/A	Intron Variant
CYFIP1 transcript variant 6	NM_001324124.3:c.-7+6962_… NM_001324124.3:c.-7+6962_-7+6975del	N/A	Intron Variant
CYFIP1 transcript variant 7	NM_001324125.3:c.-82+6962… NM_001324125.3:c.-82+6962_-82+6975del	N/A	Intron Variant
CYFIP1 transcript variant 8	NM_001324126.3:c.-7+6962_… NM_001324126.3:c.-7+6962_-7+6975del	N/A	Intron Variant
CYFIP1 transcript variant 1	NM_014608.6:c.-7+6962_-7+… NM_014608.6:c.-7+6962_-7+6975del	N/A	Intron Variant
CYFIP1 transcript variant 10	NM_001033028.3:c.	N/A	Genic Upstream Transcript Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	(A)₂₄=	del(A)₁₄	del(A)₁₃	del(A)₁₂	del(A)₁₁	del(A)₁₀	del(A)₉	del(A)₈	del(A)₇	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₇
GRCh38.p14 chr 15	NC_000015.10:g.22973312_22973335=	NC_000015.10:g.22973322_22973335del	NC_000015.10:g.22973323_22973335del	NC_000015.10:g.22973324_22973335del	NC_000015.10:g.22973325_22973335del	NC_000015.10:g.22973326_22973335del	NC_000015.10:g.22973327_22973335del	NC_000015.10:g.22973328_22973335del	NC_000015.10:g.22973329_22973335del	NC_000015.10:g.22973330_22973335del	NC_000015.10:g.22973331_22973335del	NC_000015.10:g.22973332_22973335del	NC_000015.10:g.22973333_22973335del	NC_000015.10:g.22973334_22973335del	NC_000015.10:g.22973335del	NC_000015.10:g.22973335dup	NC_000015.10:g.22973334_22973335dup	NC_000015.10:g.22973333_22973335dup	NC_000015.10:g.22973329_22973335dup
GRCh37.p13 chr 15	NC_000015.9:g.22899733_22899756=	NC_000015.9:g.22899743_22899756del	NC_000015.9:g.22899744_22899756del	NC_000015.9:g.22899745_22899756del	NC_000015.9:g.22899746_22899756del	NC_000015.9:g.22899747_22899756del	NC_000015.9:g.22899748_22899756del	NC_000015.9:g.22899749_22899756del	NC_000015.9:g.22899750_22899756del	NC_000015.9:g.22899751_22899756del	NC_000015.9:g.22899752_22899756del	NC_000015.9:g.22899753_22899756del	NC_000015.9:g.22899754_22899756del	NC_000015.9:g.22899755_22899756del	NC_000015.9:g.22899756del	NC_000015.9:g.22899756dup	NC_000015.9:g.22899755_22899756dup	NC_000015.9:g.22899754_22899756dup	NC_000015.9:g.22899750_22899756dup
CYFIP1 RefSeqGene	NG_054889.1:g.12572_12595=	NG_054889.1:g.12582_12595del	NG_054889.1:g.12583_12595del	NG_054889.1:g.12584_12595del	NG_054889.1:g.12585_12595del	NG_054889.1:g.12586_12595del	NG_054889.1:g.12587_12595del	NG_054889.1:g.12588_12595del	NG_054889.1:g.12589_12595del	NG_054889.1:g.12590_12595del	NG_054889.1:g.12591_12595del	NG_054889.1:g.12592_12595del	NG_054889.1:g.12593_12595del	NG_054889.1:g.12594_12595del	NG_054889.1:g.12595del	NG_054889.1:g.12595dup	NG_054889.1:g.12594_12595dup	NG_054889.1:g.12593_12595dup	NG_054889.1:g.12589_12595dup
GRCh38.p14 chr 15 fix patch HG2365_PATCH	NW_021160017.1:g.3867396_3867420=	NW_021160017.1:g.3867407_3867420del	NW_021160017.1:g.3867408_3867420del	NW_021160017.1:g.3867409_3867420del	NW_021160017.1:g.3867410_3867420del	NW_021160017.1:g.3867411_3867420del	NW_021160017.1:g.3867412_3867420del	NW_021160017.1:g.3867413_3867420del	NW_021160017.1:g.3867414_3867420del	NW_021160017.1:g.3867415_3867420del	NW_021160017.1:g.3867416_3867420del	NW_021160017.1:g.3867417_3867420del	NW_021160017.1:g.3867418_3867420del	NW_021160017.1:g.3867419_3867420del	NW_021160017.1:g.3867420del	NW_021160017.1:g.3867420dup	NW_021160017.1:g.3867419_3867420dup	NW_021160017.1:g.3867418_3867420dup	NW_021160017.1:g.3867414_3867420dup
GRCh38.p14 chr 15 alt locus HSCHR15_1_CTG3	NT_187603.1:g.70341_70342dup	NT_187603.1:g.70331_70342del	NT_187603.1:g.70332_70342del	NT_187603.1:g.70333_70342del	NT_187603.1:g.70334_70342del	NT_187603.1:g.70335_70342del	NT_187603.1:g.70336_70342del	NT_187603.1:g.70337_70342del	NT_187603.1:g.70338_70342del	NT_187603.1:g.70339_70342del	NT_187603.1:g.70340_70342del	NT_187603.1:g.70341_70342del	NT_187603.1:g.70342del	NT_187603.1:g.70321_70342=	NT_187603.1:g.70342dup	NT_187603.1:g.70340_70342dup	NT_187603.1:g.70339_70342dup	NT_187603.1:g.70338_70342dup	NT_187603.1:g.70334_70342dup
CYFIP1 transcript variant 2	NM_001287810.4:c.-126+6975=	NM_001287810.4:c.-126+6962_-126+6975del	NM_001287810.4:c.-126+6963_-126+6975del	NM_001287810.4:c.-126+6964_-126+6975del	NM_001287810.4:c.-126+6965_-126+6975del	NM_001287810.4:c.-126+6966_-126+6975del	NM_001287810.4:c.-126+6967_-126+6975del	NM_001287810.4:c.-126+6968_-126+6975del	NM_001287810.4:c.-126+6969_-126+6975del	NM_001287810.4:c.-126+6970_-126+6975del	NM_001287810.4:c.-126+6971_-126+6975del	NM_001287810.4:c.-126+6972_-126+6975del	NM_001287810.4:c.-126+6973_-126+6975del	NM_001287810.4:c.-126+6974_-126+6975del	NM_001287810.4:c.-126+6975del	NM_001287810.4:c.-126+6975dup	NM_001287810.4:c.-126+6974_-126+6975dup	NM_001287810.4:c.-126+6973_-126+6975dup	NM_001287810.4:c.-126+6969_-126+6975dup
CYFIP1 transcript variant 5	NM_001324119.2:c.96+7484=	NM_001324119.2:c.96+7471_96+7484del	NM_001324119.2:c.96+7472_96+7484del	NM_001324119.2:c.96+7473_96+7484del	NM_001324119.2:c.96+7474_96+7484del	NM_001324119.2:c.96+7475_96+7484del	NM_001324119.2:c.96+7476_96+7484del	NM_001324119.2:c.96+7477_96+7484del	NM_001324119.2:c.96+7478_96+7484del	NM_001324119.2:c.96+7479_96+7484del	NM_001324119.2:c.96+7480_96+7484del	NM_001324119.2:c.96+7481_96+7484del	NM_001324119.2:c.96+7482_96+7484del	NM_001324119.2:c.96+7483_96+7484del	NM_001324119.2:c.96+7484del	NM_001324119.2:c.96+7484dup	NM_001324119.2:c.96+7483_96+7484dup	NM_001324119.2:c.96+7482_96+7484dup	NM_001324119.2:c.96+7478_96+7484dup
CYFIP1 transcript variant 3	NM_001324120.2:c.-7+7256=	NM_001324120.2:c.-7+7243_-7+7256del	NM_001324120.2:c.-7+7244_-7+7256del	NM_001324120.2:c.-7+7245_-7+7256del	NM_001324120.2:c.-7+7246_-7+7256del	NM_001324120.2:c.-7+7247_-7+7256del	NM_001324120.2:c.-7+7248_-7+7256del	NM_001324120.2:c.-7+7249_-7+7256del	NM_001324120.2:c.-7+7250_-7+7256del	NM_001324120.2:c.-7+7251_-7+7256del	NM_001324120.2:c.-7+7252_-7+7256del	NM_001324120.2:c.-7+7253_-7+7256del	NM_001324120.2:c.-7+7254_-7+7256del	NM_001324120.2:c.-7+7255_-7+7256del	NM_001324120.2:c.-7+7256del	NM_001324120.2:c.-7+7256dup	NM_001324120.2:c.-7+7255_-7+7256dup	NM_001324120.2:c.-7+7254_-7+7256dup	NM_001324120.2:c.-7+7250_-7+7256dup
CYFIP1 transcript variant 9	NM_001324122.3:c.-1835+6975=	NM_001324122.3:c.-1835+6962_-1835+6975del	NM_001324122.3:c.-1835+6963_-1835+6975del	NM_001324122.3:c.-1835+6964_-1835+6975del	NM_001324122.3:c.-1835+6965_-1835+6975del	NM_001324122.3:c.-1835+6966_-1835+6975del	NM_001324122.3:c.-1835+6967_-1835+6975del	NM_001324122.3:c.-1835+6968_-1835+6975del	NM_001324122.3:c.-1835+6969_-1835+6975del	NM_001324122.3:c.-1835+6970_-1835+6975del	NM_001324122.3:c.-1835+6971_-1835+6975del	NM_001324122.3:c.-1835+6972_-1835+6975del	NM_001324122.3:c.-1835+6973_-1835+6975del	NM_001324122.3:c.-1835+6974_-1835+6975del	NM_001324122.3:c.-1835+6975del	NM_001324122.3:c.-1835+6975dup	NM_001324122.3:c.-1835+6974_-1835+6975dup	NM_001324122.3:c.-1835+6973_-1835+6975dup	NM_001324122.3:c.-1835+6969_-1835+6975dup
CYFIP1 transcript variant 4	NM_001324123.3:c.-34+6975=	NM_001324123.3:c.-34+6962_-34+6975del	NM_001324123.3:c.-34+6963_-34+6975del	NM_001324123.3:c.-34+6964_-34+6975del	NM_001324123.3:c.-34+6965_-34+6975del	NM_001324123.3:c.-34+6966_-34+6975del	NM_001324123.3:c.-34+6967_-34+6975del	NM_001324123.3:c.-34+6968_-34+6975del	NM_001324123.3:c.-34+6969_-34+6975del	NM_001324123.3:c.-34+6970_-34+6975del	NM_001324123.3:c.-34+6971_-34+6975del	NM_001324123.3:c.-34+6972_-34+6975del	NM_001324123.3:c.-34+6973_-34+6975del	NM_001324123.3:c.-34+6974_-34+6975del	NM_001324123.3:c.-34+6975del	NM_001324123.3:c.-34+6975dup	NM_001324123.3:c.-34+6974_-34+6975dup	NM_001324123.3:c.-34+6973_-34+6975dup	NM_001324123.3:c.-34+6969_-34+6975dup
CYFIP1 transcript variant 6	NM_001324124.3:c.-7+6975=	NM_001324124.3:c.-7+6962_-7+6975del	NM_001324124.3:c.-7+6963_-7+6975del	NM_001324124.3:c.-7+6964_-7+6975del	NM_001324124.3:c.-7+6965_-7+6975del	NM_001324124.3:c.-7+6966_-7+6975del	NM_001324124.3:c.-7+6967_-7+6975del	NM_001324124.3:c.-7+6968_-7+6975del	NM_001324124.3:c.-7+6969_-7+6975del	NM_001324124.3:c.-7+6970_-7+6975del	NM_001324124.3:c.-7+6971_-7+6975del	NM_001324124.3:c.-7+6972_-7+6975del	NM_001324124.3:c.-7+6973_-7+6975del	NM_001324124.3:c.-7+6974_-7+6975del	NM_001324124.3:c.-7+6975del	NM_001324124.3:c.-7+6975dup	NM_001324124.3:c.-7+6974_-7+6975dup	NM_001324124.3:c.-7+6973_-7+6975dup	NM_001324124.3:c.-7+6969_-7+6975dup
CYFIP1 transcript variant 7	NM_001324125.3:c.-82+6975=	NM_001324125.3:c.-82+6962_-82+6975del	NM_001324125.3:c.-82+6963_-82+6975del	NM_001324125.3:c.-82+6964_-82+6975del	NM_001324125.3:c.-82+6965_-82+6975del	NM_001324125.3:c.-82+6966_-82+6975del	NM_001324125.3:c.-82+6967_-82+6975del	NM_001324125.3:c.-82+6968_-82+6975del	NM_001324125.3:c.-82+6969_-82+6975del	NM_001324125.3:c.-82+6970_-82+6975del	NM_001324125.3:c.-82+6971_-82+6975del	NM_001324125.3:c.-82+6972_-82+6975del	NM_001324125.3:c.-82+6973_-82+6975del	NM_001324125.3:c.-82+6974_-82+6975del	NM_001324125.3:c.-82+6975del	NM_001324125.3:c.-82+6975dup	NM_001324125.3:c.-82+6974_-82+6975dup	NM_001324125.3:c.-82+6973_-82+6975dup	NM_001324125.3:c.-82+6969_-82+6975dup
CYFIP1 transcript variant 8	NM_001324126.3:c.-7+6975=	NM_001324126.3:c.-7+6962_-7+6975del	NM_001324126.3:c.-7+6963_-7+6975del	NM_001324126.3:c.-7+6964_-7+6975del	NM_001324126.3:c.-7+6965_-7+6975del	NM_001324126.3:c.-7+6966_-7+6975del	NM_001324126.3:c.-7+6967_-7+6975del	NM_001324126.3:c.-7+6968_-7+6975del	NM_001324126.3:c.-7+6969_-7+6975del	NM_001324126.3:c.-7+6970_-7+6975del	NM_001324126.3:c.-7+6971_-7+6975del	NM_001324126.3:c.-7+6972_-7+6975del	NM_001324126.3:c.-7+6973_-7+6975del	NM_001324126.3:c.-7+6974_-7+6975del	NM_001324126.3:c.-7+6975del	NM_001324126.3:c.-7+6975dup	NM_001324126.3:c.-7+6974_-7+6975dup	NM_001324126.3:c.-7+6973_-7+6975dup	NM_001324126.3:c.-7+6969_-7+6975dup
CYFIP1 transcript variant 1	NM_014608.2:c.-7+6952=	NM_014608.2:c.-7+6962_-7+6975del	NM_014608.2:c.-7+6963_-7+6975del	NM_014608.2:c.-7+6964_-7+6975del	NM_014608.2:c.-7+6965_-7+6975del	NM_014608.2:c.-7+6966_-7+6975del	NM_014608.2:c.-7+6967_-7+6975del	NM_014608.2:c.-7+6968_-7+6975del	NM_014608.2:c.-7+6969_-7+6975del	NM_014608.2:c.-7+6970_-7+6975del	NM_014608.2:c.-7+6971_-7+6975del	NM_014608.2:c.-7+6972_-7+6975del	NM_014608.2:c.-7+6973_-7+6975del	NM_014608.2:c.-7+6974_-7+6975del	NM_014608.2:c.-7+6975del	NM_014608.2:c.-7+6975dup	NM_014608.2:c.-7+6974_-7+6975dup	NM_014608.2:c.-7+6973_-7+6975dup	NM_014608.2:c.-7+6969_-7+6975dup
CYFIP1 transcript variant 1	NM_014608.6:c.-7+6975=	NM_014608.6:c.-7+6962_-7+6975del	NM_014608.6:c.-7+6963_-7+6975del	NM_014608.6:c.-7+6964_-7+6975del	NM_014608.6:c.-7+6965_-7+6975del	NM_014608.6:c.-7+6966_-7+6975del	NM_014608.6:c.-7+6967_-7+6975del	NM_014608.6:c.-7+6968_-7+6975del	NM_014608.6:c.-7+6969_-7+6975del	NM_014608.6:c.-7+6970_-7+6975del	NM_014608.6:c.-7+6971_-7+6975del	NM_014608.6:c.-7+6972_-7+6975del	NM_014608.6:c.-7+6973_-7+6975del	NM_014608.6:c.-7+6974_-7+6975del	NM_014608.6:c.-7+6975del	NM_014608.6:c.-7+6975dup	NM_014608.6:c.-7+6974_-7+6975dup	NM_014608.6:c.-7+6973_-7+6975dup	NM_014608.6:c.-7+6969_-7+6975dup
CYFIP1 transcript variant X2	XM_005272543.1:c.-34+6952=	XM_005272543.1:c.-34+6962_-34+6975del	XM_005272543.1:c.-34+6963_-34+6975del	XM_005272543.1:c.-34+6964_-34+6975del	XM_005272543.1:c.-34+6965_-34+6975del	XM_005272543.1:c.-34+6966_-34+6975del	XM_005272543.1:c.-34+6967_-34+6975del	XM_005272543.1:c.-34+6968_-34+6975del	XM_005272543.1:c.-34+6969_-34+6975del	XM_005272543.1:c.-34+6970_-34+6975del	XM_005272543.1:c.-34+6971_-34+6975del	XM_005272543.1:c.-34+6972_-34+6975del	XM_005272543.1:c.-34+6973_-34+6975del	XM_005272543.1:c.-34+6974_-34+6975del	XM_005272543.1:c.-34+6975del	XM_005272543.1:c.-34+6975dup	XM_005272543.1:c.-34+6974_-34+6975dup	XM_005272543.1:c.-34+6973_-34+6975dup	XM_005272543.1:c.-34+6969_-34+6975dup
CYFIP1 transcript variant X3	XM_005272544.1:c.-126+6952=	XM_005272544.1:c.-126+6962_-126+6975del	XM_005272544.1:c.-126+6963_-126+6975del	XM_005272544.1:c.-126+6964_-126+6975del	XM_005272544.1:c.-126+6965_-126+6975del	XM_005272544.1:c.-126+6966_-126+6975del	XM_005272544.1:c.-126+6967_-126+6975del	XM_005272544.1:c.-126+6968_-126+6975del	XM_005272544.1:c.-126+6969_-126+6975del	XM_005272544.1:c.-126+6970_-126+6975del	XM_005272544.1:c.-126+6971_-126+6975del	XM_005272544.1:c.-126+6972_-126+6975del	XM_005272544.1:c.-126+6973_-126+6975del	XM_005272544.1:c.-126+6974_-126+6975del	XM_005272544.1:c.-126+6975del	XM_005272544.1:c.-126+6975dup	XM_005272544.1:c.-126+6974_-126+6975dup	XM_005272544.1:c.-126+6973_-126+6975dup	XM_005272544.1:c.-126+6969_-126+6975dup
CYFIP1 transcript variant X4	XM_005272545.1:c.-7+6952=	XM_005272545.1:c.-7+6962_-7+6975del	XM_005272545.1:c.-7+6963_-7+6975del	XM_005272545.1:c.-7+6964_-7+6975del	XM_005272545.1:c.-7+6965_-7+6975del	XM_005272545.1:c.-7+6966_-7+6975del	XM_005272545.1:c.-7+6967_-7+6975del	XM_005272545.1:c.-7+6968_-7+6975del	XM_005272545.1:c.-7+6969_-7+6975del	XM_005272545.1:c.-7+6970_-7+6975del	XM_005272545.1:c.-7+6971_-7+6975del	XM_005272545.1:c.-7+6972_-7+6975del	XM_005272545.1:c.-7+6973_-7+6975del	XM_005272545.1:c.-7+6974_-7+6975del	XM_005272545.1:c.-7+6975del	XM_005272545.1:c.-7+6975dup	XM_005272545.1:c.-7+6974_-7+6975dup	XM_005272545.1:c.-7+6973_-7+6975dup	XM_005272545.1:c.-7+6969_-7+6975dup

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, 30 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss40557012	Dec 03, 2013 (138)
2	HGSV	ss79991146	Aug 21, 2014 (142)
3	HUMANGENOME_JCVI	ss95652721	Dec 05, 2013 (138)
4	HUMANGENOME_JCVI	ss96785695	Dec 05, 2013 (138)
5	EVA_GENOME_DK	ss1574828808	Apr 01, 2015 (144)
6	SWEGEN	ss3012932172	Nov 08, 2017 (151)
7	URBANLAB	ss3650305703	Oct 12, 2018 (152)
8	EVA_DECODE	ss3697506773	Jul 13, 2019 (153)
9	EVA_DECODE	ss3697506774	Jul 13, 2019 (153)
10	EVA_DECODE	ss3697506775	Jul 13, 2019 (153)
11	EVA_DECODE	ss3697506776	Jul 13, 2019 (153)
12	EVA_DECODE	ss3697506777	Jul 13, 2019 (153)
13	EVA_DECODE	ss3697506778	Jul 13, 2019 (153)
14	PACBIO	ss3787787657	Jul 13, 2019 (153)
15	PACBIO	ss3792808363	Jul 13, 2019 (153)
16	PACBIO	ss3792808364	Jul 13, 2019 (153)
17	PACBIO	ss3797692778	Jul 13, 2019 (153)
18	PACBIO	ss3797692779	Jul 13, 2019 (153)
19	GNOMAD	ss4285282954	Apr 27, 2021 (155)
20	GNOMAD	ss4285282955	Apr 27, 2021 (155)
21	GNOMAD	ss4285282956	Apr 27, 2021 (155)
22	GNOMAD	ss4285282957	Apr 27, 2021 (155)
23	GNOMAD	ss4285282958	Apr 27, 2021 (155)
24	GNOMAD	ss4285282959	Apr 27, 2021 (155)
25	GNOMAD	ss4285282960	Apr 27, 2021 (155)
26	GNOMAD	ss4285282961	Apr 27, 2021 (155)
27	GNOMAD	ss4285282962	Apr 27, 2021 (155)
28	GNOMAD	ss4285282963	Apr 27, 2021 (155)
29	GNOMAD	ss4285282964	Apr 27, 2021 (155)
30	GNOMAD	ss4285282965	Apr 27, 2021 (155)
31	GNOMAD	ss4285282966	Apr 27, 2021 (155)
32	GNOMAD	ss4285282967	Apr 27, 2021 (155)
33	GNOMAD	ss4285282968	Apr 27, 2021 (155)
34	GNOMAD	ss4285282969	Apr 27, 2021 (155)
35	GNOMAD	ss4285282970	Apr 27, 2021 (155)
36	TOMMO_GENOMICS	ss5215205321	Apr 27, 2021 (155)
37	TOMMO_GENOMICS	ss5215205322	Apr 27, 2021 (155)
38	TOMMO_GENOMICS	ss5215205323	Apr 27, 2021 (155)
39	TOMMO_GENOMICS	ss5215205324	Apr 27, 2021 (155)
40	TOMMO_GENOMICS	ss5215205325	Apr 27, 2021 (155)
41	TOMMO_GENOMICS	ss5215205326	Apr 27, 2021 (155)
42	1000G_HIGH_COVERAGE	ss5297713917	Oct 16, 2022 (156)
43	1000G_HIGH_COVERAGE	ss5297713918	Oct 16, 2022 (156)
44	1000G_HIGH_COVERAGE	ss5297713919	Oct 16, 2022 (156)
45	1000G_HIGH_COVERAGE	ss5297713920	Oct 16, 2022 (156)
46	1000G_HIGH_COVERAGE	ss5297713921	Oct 16, 2022 (156)
47	HUGCELL_USP	ss5491553439	Oct 16, 2022 (156)
48	HUGCELL_USP	ss5491553440	Oct 16, 2022 (156)
49	HUGCELL_USP	ss5491553441	Oct 16, 2022 (156)
50	HUGCELL_USP	ss5491553442	Oct 16, 2022 (156)
51	HUGCELL_USP	ss5491553443	Oct 16, 2022 (156)
52	TOMMO_GENOMICS	ss5768740764	Oct 16, 2022 (156)
53	TOMMO_GENOMICS	ss5768740765	Oct 16, 2022 (156)
54	TOMMO_GENOMICS	ss5768740766	Oct 16, 2022 (156)
55	TOMMO_GENOMICS	ss5768740768	Oct 16, 2022 (156)
56	TOMMO_GENOMICS	ss5768740769	Oct 16, 2022 (156)
57	The Danish reference pan genome	NC_000015.9 - 22899733	Apr 27, 2020 (154)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 463180381 (NC_000015.10:22973311::A 3345/65514) Row 463180382 (NC_000015.10:22973311::AA 192/67682) Row 463180383 (NC_000015.10:22973311::AAA 8/67758)...	-	Apr 27, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 463180381 (NC_000015.10:22973311::A 3345/65514) Row 463180382 (NC_000015.10:22973311::AA 192/67682) Row 463180383 (NC_000015.10:22973311::AAA 8/67758)...	-	Apr 27, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 463180381 (NC_000015.10:22973311::A 3345/65514) Row 463180382 (NC_000015.10:22973311::AA 192/67682) Row 463180383 (NC_000015.10:22973311::AAA 8/67758)...	-	Apr 27, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 463180381 (NC_000015.10:22973311::A 3345/65514) Row 463180382 (NC_000015.10:22973311::AA 192/67682) Row 463180383 (NC_000015.10:22973311::AAA 8/67758)...	-	Apr 27, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 463180381 (NC_000015.10:22973311::A 3345/65514) Row 463180382 (NC_000015.10:22973311::AA 192/67682) Row 463180383 (NC_000015.10:22973311::AAA 8/67758)...	-	Apr 27, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 463180381 (NC_000015.10:22973311::A 3345/65514) Row 463180382 (NC_000015.10:22973311::AA 192/67682) Row 463180383 (NC_000015.10:22973311::AAA 8/67758)...	-	Apr 27, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 463180381 (NC_000015.10:22973311::A 3345/65514) Row 463180382 (NC_000015.10:22973311::AA 192/67682) Row 463180383 (NC_000015.10:22973311::AAA 8/67758)...	-	Apr 27, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 463180381 (NC_000015.10:22973311::A 3345/65514) Row 463180382 (NC_000015.10:22973311::AA 192/67682) Row 463180383 (NC_000015.10:22973311::AAA 8/67758)...	-	Apr 27, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 463180381 (NC_000015.10:22973311::A 3345/65514) Row 463180382 (NC_000015.10:22973311::AA 192/67682) Row 463180383 (NC_000015.10:22973311::AAA 8/67758)...	-	Apr 27, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 463180381 (NC_000015.10:22973311::A 3345/65514) Row 463180382 (NC_000015.10:22973311::AA 192/67682) Row 463180383 (NC_000015.10:22973311::AAA 8/67758)...	-	Apr 27, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 463180381 (NC_000015.10:22973311::A 3345/65514) Row 463180382 (NC_000015.10:22973311::AA 192/67682) Row 463180383 (NC_000015.10:22973311::AAA 8/67758)...	-	Apr 27, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 463180381 (NC_000015.10:22973311::A 3345/65514) Row 463180382 (NC_000015.10:22973311::AA 192/67682) Row 463180383 (NC_000015.10:22973311::AAA 8/67758)...	-	Apr 27, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 463180381 (NC_000015.10:22973311::A 3345/65514) Row 463180382 (NC_000015.10:22973311::AA 192/67682) Row 463180383 (NC_000015.10:22973311::AAA 8/67758)...	-	Apr 27, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 463180381 (NC_000015.10:22973311::A 3345/65514) Row 463180382 (NC_000015.10:22973311::AA 192/67682) Row 463180383 (NC_000015.10:22973311::AAA 8/67758)...	-	Apr 27, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 463180381 (NC_000015.10:22973311::A 3345/65514) Row 463180382 (NC_000015.10:22973311::AA 192/67682) Row 463180383 (NC_000015.10:22973311::AAA 8/67758)...	-	Apr 27, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 463180381 (NC_000015.10:22973311::A 3345/65514) Row 463180382 (NC_000015.10:22973311::AA 192/67682) Row 463180383 (NC_000015.10:22973311::AAA 8/67758)...	-	Apr 27, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 463180381 (NC_000015.10:22973311::A 3345/65514) Row 463180382 (NC_000015.10:22973311::AA 192/67682) Row 463180383 (NC_000015.10:22973311::AAA 8/67758)...	-	Apr 27, 2021 (155)
75	8.3KJPN Submission ignored due to conflicting rows: Row 73174628 (NC_000015.9:22899732:TTTT: 732/16446) Row 73174629 (NC_000015.9:22899732::T 2027/16446) Row 73174630 (NC_000015.9:22899732:T: 528/16446)...	-	Apr 27, 2021 (155)
76	8.3KJPN Submission ignored due to conflicting rows: Row 73174628 (NC_000015.9:22899732:TTTT: 732/16446) Row 73174629 (NC_000015.9:22899732::T 2027/16446) Row 73174630 (NC_000015.9:22899732:T: 528/16446)...	-	Apr 27, 2021 (155)
77	8.3KJPN Submission ignored due to conflicting rows: Row 73174628 (NC_000015.9:22899732:TTTT: 732/16446) Row 73174629 (NC_000015.9:22899732::T 2027/16446) Row 73174630 (NC_000015.9:22899732:T: 528/16446)...	-	Apr 27, 2021 (155)
78	8.3KJPN Submission ignored due to conflicting rows: Row 73174628 (NC_000015.9:22899732:TTTT: 732/16446) Row 73174629 (NC_000015.9:22899732::T 2027/16446) Row 73174630 (NC_000015.9:22899732:T: 528/16446)...	-	Apr 27, 2021 (155)
79	8.3KJPN Submission ignored due to conflicting rows: Row 73174628 (NC_000015.9:22899732:TTTT: 732/16446) Row 73174629 (NC_000015.9:22899732::T 2027/16446) Row 73174630 (NC_000015.9:22899732:T: 528/16446)...	-	Apr 27, 2021 (155)
80	8.3KJPN Submission ignored due to conflicting rows: Row 73174628 (NC_000015.9:22899732:TTTT: 732/16446) Row 73174629 (NC_000015.9:22899732::T 2027/16446) Row 73174630 (NC_000015.9:22899732:T: 528/16446)...	-	Apr 27, 2021 (155)
81	14KJPN Submission ignored due to conflicting rows: Row 102577868 (NC_000015.10:22973311::A 3440/27512) Row 102577869 (NC_000015.10:22973311:AAAA: 1640/27512) Row 102577870 (NC_000015.10:22973311:A: 1107/27512)...	-	Oct 16, 2022 (156)
82	14KJPN Submission ignored due to conflicting rows: Row 102577868 (NC_000015.10:22973311::A 3440/27512) Row 102577869 (NC_000015.10:22973311:AAAA: 1640/27512) Row 102577870 (NC_000015.10:22973311:A: 1107/27512)...	-	Oct 16, 2022 (156)
83	14KJPN Submission ignored due to conflicting rows: Row 102577868 (NC_000015.10:22973311::A 3440/27512) Row 102577869 (NC_000015.10:22973311:AAAA: 1640/27512) Row 102577870 (NC_000015.10:22973311:A: 1107/27512)...	-	Oct 16, 2022 (156)
84	14KJPN Submission ignored due to conflicting rows: Row 102577868 (NC_000015.10:22973311::A 3440/27512) Row 102577869 (NC_000015.10:22973311:AAAA: 1640/27512) Row 102577870 (NC_000015.10:22973311:A: 1107/27512)...	-	Oct 16, 2022 (156)
85	14KJPN Submission ignored due to conflicting rows: Row 102577868 (NC_000015.10:22973311::A 3440/27512) Row 102577869 (NC_000015.10:22973311:AAAA: 1640/27512) Row 102577870 (NC_000015.10:22973311:A: 1107/27512)...	-	Oct 16, 2022 (156)
86	ALFA	NC_000015.10 - 22973312	Apr 27, 2021 (155)

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

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4285282970	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAA:	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
11316037215	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
11316037215	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss4285282969	NC_000015.10:22973311:AAAAAAAAAAAA:	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
11316037215	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss4285282968	NC_000015.10:22973311:AAAAAAAAAAA:	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
11316037215	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3012932172	NC_000015.9:22899732:TTTTTTTTTT:	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4285282967	NC_000015.10:22973311:AAAAAAAAAA:	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
11316037215	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4285282966	NC_000015.10:22973311:AAAAAAAAA:	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
11316037215	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4285282965	NC_000015.10:22973311:AAAAAAAA:	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
11316037215	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss5215205326	NC_000015.9:22899732:TTTTTTT:	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4285282964	NC_000015.10:22973311:AAAAAAA:	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
11316037215	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4285282963	NC_000015.10:22973311:AAAAAA:	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
11316037215	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3697506778, ss4285282962	NC_000015.10:22973311:AAAAA:	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
11316037215	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss79991146	NC_000015.8:20451193:TTTT:	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
476358, ss1574828808, ss5215205321	NC_000015.9:22899732:TTTT:	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4285282961, ss5297713917, ss5491553442, ss5768740765	NC_000015.10:22973311:AAAA:	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
11316037215	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3697506777	NC_000015.10:22973312:AAAA:	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3787787657, ss3792808363, ss3797692778, ss5215205325	NC_000015.9:22899732:TTT:	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4285282960, ss5297713918, ss5491553443, ss5768740768	NC_000015.10:22973311:AAA:	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
11316037215	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3697506776	NC_000015.10:22973313:AAA:	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4285282959, ss5297713921, ss5491553441	NC_000015.10:22973311:AA:	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
11316037215	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3697506775	NC_000015.10:22973314:AA:	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3792808364, ss3797692779, ss5215205323	NC_000015.9:22899732:T:	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3650305703, ss4285282958, ss5297713919, ss5491553439, ss5768740766	NC_000015.10:22973311:A:	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
11316037215	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3697506774	NC_000015.10:22973315:A:	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss40557012, ss95652721, ss96785695	NT_078094.2:253562:T:	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5215205322	NC_000015.9:22899732::T	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4285282954, ss5297713920, ss5491553440, ss5768740764	NC_000015.10:22973311::A	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
11316037215	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3697506773	NC_000015.10:22973316::A	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5215205324	NC_000015.9:22899732::TT	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4285282955, ss5768740769	NC_000015.10:22973311::AA	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
11316037215	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4285282956	NC_000015.10:22973311::AAA	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
11316037215	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4285282957	NC_000015.10:22973311::AAAAAAA	NC_000015.10:22973311:AAAAAAAAAAAA… NC_000015.10:22973311:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(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 rs397761069

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

rs397761069