Name: rs930978218
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.

rs930978218

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr7:100591032-100591055 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: del(T)₁₀ / del(T)₉ / del(T)₈ / del…
del(T)₁₀ / del(T)₉ / del(T)₈ / del(T)₇ / del(T)₆ / del(T)₅ / del(T)₄ / delTTT / delTT / delT / dupT / dupTT / dupTTT / dup(T)₄ / dup(T)₅ / dup(T)₆ / dup(T)₇ / dup(T)₈ / dup(T)₉ / dup(T)₁₀ / dup(T)₁₁ / dup(T)₁₂ / dup(T)₁₃ / dup(T)₁₆ / dup(T)₁₇ / dup(T)₁₈ / dup(T)₂₃ / ins(T)₂₇ / ins(T)₂₈ / ins(T)₃₂ / ins(T)₃₉
Variation Type: Indel Insertion and Deletion
Frequency: dupT=0.06227 (766/12302, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: FBXO24 : Intron Variant
PCOLCE-AS1 : 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	12302	TTTTTTTTTTTTTTTTTTTTTTTT=0.90749	TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTT=0.00675, TTTTTTTTTTTTTTTTTTTTTTTTT=0.06227, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.01130, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00276, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00870, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00073, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00000	0.914846	0.030105	0.055049	32
European	Sub	10034	TTTTTTTTTTTTTTTTTTTTTTTT=0.88678	TTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTT=0.00000, TTTTTTTTTTTTTTTTTTTTTTT=0.00827, TTTTTTTTTTTTTTTTTTTTTTTTT=0.07614, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.01385, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00339, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.01066, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00090, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00000	0.894422	0.037187	0.068391	32
African	Sub	1520	TTTTTTTTTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
African Others	Sub	60	TTTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
African American	Sub	1460	TTTTTTTTTTTTTTTTTTTTTTTT=1.0000	TTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	1.0	0.0	0.0	N/A
Asian	Sub	46	TTTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	32	TTTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	14	TTTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	66	TTTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	322	TTTTTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	50	TTTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	1.0	0.0	0.0	N/A
Other	Sub	264	TTTTTTTTTTTTTTTTTTTTTTTT=0.992	TTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTT=0.008, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000, TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.000	0.992424	0.007576	0.0	32

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

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	12302	(T)₂₄=0.90749	del(T)₁₀=0.00000, del(T)₉=0.00000, del(T)₈=0.00000, del(T)₇=0.00000, del(T)₆=0.00000, del(T)₅=0.00000, del(T)₄=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.00675, dupT=0.06227, dupTT=0.01130, dupTTT=0.00276, dup(T)₄=0.00870, dup(T)₅=0.00073, dup(T)₆=0.00000
Allele Frequency Aggregator	European	Sub	10034	(T)₂₄=0.88678	del(T)₁₀=0.00000, del(T)₉=0.00000, del(T)₈=0.00000, del(T)₇=0.00000, del(T)₆=0.00000, del(T)₅=0.00000, del(T)₄=0.00000, delTTT=0.00000, delTT=0.00000, delT=0.00827, dupT=0.07614, dupTT=0.01385, dupTTT=0.00339, dup(T)₄=0.01066, dup(T)₅=0.00090, dup(T)₆=0.00000
Allele Frequency Aggregator	African	Sub	1520	(T)₂₄=1.0000	del(T)₁₀=0.0000, del(T)₉=0.0000, del(T)₈=0.0000, del(T)₇=0.0000, del(T)₆=0.0000, del(T)₅=0.0000, del(T)₄=0.0000, delTTT=0.0000, delTT=0.0000, delT=0.0000, dupT=0.0000, dupTT=0.0000, dupTTT=0.0000, dup(T)₄=0.0000, dup(T)₅=0.0000, dup(T)₆=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	322	(T)₂₄=1.000	del(T)₁₀=0.000, del(T)₉=0.000, del(T)₈=0.000, del(T)₇=0.000, del(T)₆=0.000, del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.000, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000, dup(T)₆=0.000
Allele Frequency Aggregator	Other	Sub	264	(T)₂₄=0.992	del(T)₁₀=0.000, del(T)₉=0.000, del(T)₈=0.000, del(T)₇=0.000, del(T)₆=0.000, del(T)₅=0.000, del(T)₄=0.000, delTTT=0.000, delTT=0.000, delT=0.000, dupT=0.008, dupTT=0.000, dupTTT=0.000, dup(T)₄=0.000, dup(T)₅=0.000, dup(T)₆=0.000
Allele Frequency Aggregator	Latin American 1	Sub	66	(T)₂₄=1.00	del(T)₁₀=0.00, del(T)₉=0.00, del(T)₈=0.00, del(T)₇=0.00, del(T)₆=0.00, del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00, dup(T)₆=0.00
Allele Frequency Aggregator	South Asian	Sub	50	(T)₂₄=1.00	del(T)₁₀=0.00, del(T)₉=0.00, del(T)₈=0.00, del(T)₇=0.00, del(T)₆=0.00, del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00, dup(T)₆=0.00
Allele Frequency Aggregator	Asian	Sub	46	(T)₂₄=1.00	del(T)₁₀=0.00, del(T)₉=0.00, del(T)₈=0.00, del(T)₇=0.00, del(T)₆=0.00, del(T)₅=0.00, del(T)₄=0.00, delTTT=0.00, delTT=0.00, delT=0.00, dupT=0.00, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00, dup(T)₆=0.00

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 7	NC_000007.14:g.100591046_100591055del
GRCh38.p14 chr 7	NC_000007.14:g.100591047_100591055del
GRCh38.p14 chr 7	NC_000007.14:g.100591048_100591055del
GRCh38.p14 chr 7	NC_000007.14:g.100591049_100591055del
GRCh38.p14 chr 7	NC_000007.14:g.100591050_100591055del
GRCh38.p14 chr 7	NC_000007.14:g.100591051_100591055del
GRCh38.p14 chr 7	NC_000007.14:g.100591052_100591055del
GRCh38.p14 chr 7	NC_000007.14:g.100591053_100591055del
GRCh38.p14 chr 7	NC_000007.14:g.100591054_100591055del
GRCh38.p14 chr 7	NC_000007.14:g.100591055del
GRCh38.p14 chr 7	NC_000007.14:g.100591055dup
GRCh38.p14 chr 7	NC_000007.14:g.100591054_100591055dup
GRCh38.p14 chr 7	NC_000007.14:g.100591053_100591055dup
GRCh38.p14 chr 7	NC_000007.14:g.100591052_100591055dup
GRCh38.p14 chr 7	NC_000007.14:g.100591051_100591055dup
GRCh38.p14 chr 7	NC_000007.14:g.100591050_100591055dup
GRCh38.p14 chr 7	NC_000007.14:g.100591049_100591055dup
GRCh38.p14 chr 7	NC_000007.14:g.100591048_100591055dup
GRCh38.p14 chr 7	NC_000007.14:g.100591047_100591055dup
GRCh38.p14 chr 7	NC_000007.14:g.100591046_100591055dup
GRCh38.p14 chr 7	NC_000007.14:g.100591045_100591055dup
GRCh38.p14 chr 7	NC_000007.14:g.100591044_100591055dup
GRCh38.p14 chr 7	NC_000007.14:g.100591043_100591055dup
GRCh38.p14 chr 7	NC_000007.14:g.100591040_100591055dup
GRCh38.p14 chr 7	NC_000007.14:g.100591039_100591055dup
GRCh38.p14 chr 7	NC_000007.14:g.100591038_100591055dup
GRCh38.p14 chr 7	NC_000007.14:g.100591033_100591055dup
GRCh38.p14 chr 7	NC_000007.14:g.100591055_100591056insTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 7	NC_000007.14:g.100591055_100591056insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 7	NC_000007.14:g.100591055_100591056insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh38.p14 chr 7	NC_000007.14:g.100591055_100591056insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 7	NC_000007.13:g.100188669_100188678del
GRCh37.p13 chr 7	NC_000007.13:g.100188670_100188678del
GRCh37.p13 chr 7	NC_000007.13:g.100188671_100188678del
GRCh37.p13 chr 7	NC_000007.13:g.100188672_100188678del
GRCh37.p13 chr 7	NC_000007.13:g.100188673_100188678del
GRCh37.p13 chr 7	NC_000007.13:g.100188674_100188678del
GRCh37.p13 chr 7	NC_000007.13:g.100188675_100188678del
GRCh37.p13 chr 7	NC_000007.13:g.100188676_100188678del
GRCh37.p13 chr 7	NC_000007.13:g.100188677_100188678del
GRCh37.p13 chr 7	NC_000007.13:g.100188678del
GRCh37.p13 chr 7	NC_000007.13:g.100188678dup
GRCh37.p13 chr 7	NC_000007.13:g.100188677_100188678dup
GRCh37.p13 chr 7	NC_000007.13:g.100188676_100188678dup
GRCh37.p13 chr 7	NC_000007.13:g.100188675_100188678dup
GRCh37.p13 chr 7	NC_000007.13:g.100188674_100188678dup
GRCh37.p13 chr 7	NC_000007.13:g.100188673_100188678dup
GRCh37.p13 chr 7	NC_000007.13:g.100188672_100188678dup
GRCh37.p13 chr 7	NC_000007.13:g.100188671_100188678dup
GRCh37.p13 chr 7	NC_000007.13:g.100188670_100188678dup
GRCh37.p13 chr 7	NC_000007.13:g.100188669_100188678dup
GRCh37.p13 chr 7	NC_000007.13:g.100188668_100188678dup
GRCh37.p13 chr 7	NC_000007.13:g.100188667_100188678dup
GRCh37.p13 chr 7	NC_000007.13:g.100188666_100188678dup
GRCh37.p13 chr 7	NC_000007.13:g.100188663_100188678dup
GRCh37.p13 chr 7	NC_000007.13:g.100188662_100188678dup
GRCh37.p13 chr 7	NC_000007.13:g.100188661_100188678dup
GRCh37.p13 chr 7	NC_000007.13:g.100188656_100188678dup
GRCh37.p13 chr 7	NC_000007.13:g.100188678_100188679insTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 7	NC_000007.13:g.100188678_100188679insTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 7	NC_000007.13:g.100188678_100188679insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 7	NC_000007.13:g.100188678_100188679insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Gene: FBXO24, F-box protein 24 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
FBXO24 transcript variant 4	NM_001163499.2:c.287-621_… NM_001163499.2:c.287-621_287-612del	N/A	Intron Variant
FBXO24 transcript variant 3	NM_012172.5:c.437-621_437… NM_012172.5:c.437-621_437-612del	N/A	Intron Variant
FBXO24 transcript variant 1	NM_033506.3:c.323-621_323… NM_033506.3:c.323-621_323-612del	N/A	Intron Variant
FBXO24 transcript variant X2	XM_005250259.5:c.437-621_… XM_005250259.5:c.437-621_437-612del	N/A	Intron Variant
FBXO24 transcript variant X1	XM_011516022.1:c.338-621_… XM_011516022.1:c.338-621_338-612del	N/A	Intron Variant
FBXO24 transcript variant X3	XM_047420182.1:c.323-621_… XM_047420182.1:c.323-621_323-612del	N/A	Intron Variant
FBXO24 transcript variant X4	XM_047420183.1:c.-182-621… XM_047420183.1:c.-182-621_-182-612del	N/A	Intron Variant

Gene: PCOLCE-AS1, PCOLCE antisense RNA 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PCOLCE-AS1 transcript	NR_038910.1:n.	N/A	Intron Variant

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

Not Reported in ClinVar

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

Placement	(T)₂₄=	del(T)₁₀	del(T)₉	del(T)₈	del(T)₇	del(T)₆	del(T)₅	del(T)₄	delTTT	delTT	delT	dupT	dupTT	dupTTT	dup(T)₄	dup(T)₅	dup(T)₆	dup(T)₇	dup(T)₈	dup(T)₉	dup(T)₁₀	dup(T)₁₁	dup(T)₁₂	dup(T)₁₃	dup(T)₁₆	dup(T)₁₇	dup(T)₁₈	dup(T)₂₃	ins(T)₂₇	ins(T)₂₈	ins(T)₃₂	ins(T)₃₉
GRCh38.p14 chr 7	NC_000007.14:g.100591032_100591055=	NC_000007.14:g.100591046_100591055del	NC_000007.14:g.100591047_100591055del	NC_000007.14:g.100591048_100591055del	NC_000007.14:g.100591049_100591055del	NC_000007.14:g.100591050_100591055del	NC_000007.14:g.100591051_100591055del	NC_000007.14:g.100591052_100591055del	NC_000007.14:g.100591053_100591055del	NC_000007.14:g.100591054_100591055del	NC_000007.14:g.100591055del	NC_000007.14:g.100591055dup	NC_000007.14:g.100591054_100591055dup	NC_000007.14:g.100591053_100591055dup	NC_000007.14:g.100591052_100591055dup	NC_000007.14:g.100591051_100591055dup	NC_000007.14:g.100591050_100591055dup	NC_000007.14:g.100591049_100591055dup	NC_000007.14:g.100591048_100591055dup	NC_000007.14:g.100591047_100591055dup	NC_000007.14:g.100591046_100591055dup	NC_000007.14:g.100591045_100591055dup	NC_000007.14:g.100591044_100591055dup	NC_000007.14:g.100591043_100591055dup	NC_000007.14:g.100591040_100591055dup	NC_000007.14:g.100591039_100591055dup	NC_000007.14:g.100591038_100591055dup	NC_000007.14:g.100591033_100591055dup	NC_000007.14:g.100591055_100591056insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000007.14:g.100591055_100591056insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000007.14:g.100591055_100591056insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000007.14:g.100591055_100591056insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 7	NC_000007.13:g.100188655_100188678=	NC_000007.13:g.100188669_100188678del	NC_000007.13:g.100188670_100188678del	NC_000007.13:g.100188671_100188678del	NC_000007.13:g.100188672_100188678del	NC_000007.13:g.100188673_100188678del	NC_000007.13:g.100188674_100188678del	NC_000007.13:g.100188675_100188678del	NC_000007.13:g.100188676_100188678del	NC_000007.13:g.100188677_100188678del	NC_000007.13:g.100188678del	NC_000007.13:g.100188678dup	NC_000007.13:g.100188677_100188678dup	NC_000007.13:g.100188676_100188678dup	NC_000007.13:g.100188675_100188678dup	NC_000007.13:g.100188674_100188678dup	NC_000007.13:g.100188673_100188678dup	NC_000007.13:g.100188672_100188678dup	NC_000007.13:g.100188671_100188678dup	NC_000007.13:g.100188670_100188678dup	NC_000007.13:g.100188669_100188678dup	NC_000007.13:g.100188668_100188678dup	NC_000007.13:g.100188667_100188678dup	NC_000007.13:g.100188666_100188678dup	NC_000007.13:g.100188663_100188678dup	NC_000007.13:g.100188662_100188678dup	NC_000007.13:g.100188661_100188678dup	NC_000007.13:g.100188656_100188678dup	NC_000007.13:g.100188678_100188679insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000007.13:g.100188678_100188679insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000007.13:g.100188678_100188679insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000007.13:g.100188678_100188679insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
FBXO24 transcript variant 4	NM_001163499.1:c.287-635=	NM_001163499.1:c.287-621_287-612del	NM_001163499.1:c.287-620_287-612del	NM_001163499.1:c.287-619_287-612del	NM_001163499.1:c.287-618_287-612del	NM_001163499.1:c.287-617_287-612del	NM_001163499.1:c.287-616_287-612del	NM_001163499.1:c.287-615_287-612del	NM_001163499.1:c.287-614_287-612del	NM_001163499.1:c.287-613_287-612del	NM_001163499.1:c.287-612del	NM_001163499.1:c.287-612dup	NM_001163499.1:c.287-613_287-612dup	NM_001163499.1:c.287-614_287-612dup	NM_001163499.1:c.287-615_287-612dup	NM_001163499.1:c.287-616_287-612dup	NM_001163499.1:c.287-617_287-612dup	NM_001163499.1:c.287-618_287-612dup	NM_001163499.1:c.287-619_287-612dup	NM_001163499.1:c.287-620_287-612dup	NM_001163499.1:c.287-621_287-612dup	NM_001163499.1:c.287-622_287-612dup	NM_001163499.1:c.287-623_287-612dup	NM_001163499.1:c.287-624_287-612dup	NM_001163499.1:c.287-627_287-612dup	NM_001163499.1:c.287-628_287-612dup	NM_001163499.1:c.287-629_287-612dup	NM_001163499.1:c.287-634_287-612dup	NM_001163499.1:c.287-612_287-611insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001163499.1:c.287-612_287-611insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001163499.1:c.287-612_287-611insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001163499.1:c.287-612_287-611insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
FBXO24 transcript variant 4	NM_001163499.2:c.287-635=	NM_001163499.2:c.287-621_287-612del	NM_001163499.2:c.287-620_287-612del	NM_001163499.2:c.287-619_287-612del	NM_001163499.2:c.287-618_287-612del	NM_001163499.2:c.287-617_287-612del	NM_001163499.2:c.287-616_287-612del	NM_001163499.2:c.287-615_287-612del	NM_001163499.2:c.287-614_287-612del	NM_001163499.2:c.287-613_287-612del	NM_001163499.2:c.287-612del	NM_001163499.2:c.287-612dup	NM_001163499.2:c.287-613_287-612dup	NM_001163499.2:c.287-614_287-612dup	NM_001163499.2:c.287-615_287-612dup	NM_001163499.2:c.287-616_287-612dup	NM_001163499.2:c.287-617_287-612dup	NM_001163499.2:c.287-618_287-612dup	NM_001163499.2:c.287-619_287-612dup	NM_001163499.2:c.287-620_287-612dup	NM_001163499.2:c.287-621_287-612dup	NM_001163499.2:c.287-622_287-612dup	NM_001163499.2:c.287-623_287-612dup	NM_001163499.2:c.287-624_287-612dup	NM_001163499.2:c.287-627_287-612dup	NM_001163499.2:c.287-628_287-612dup	NM_001163499.2:c.287-629_287-612dup	NM_001163499.2:c.287-634_287-612dup	NM_001163499.2:c.287-612_287-611insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001163499.2:c.287-612_287-611insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001163499.2:c.287-612_287-611insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_001163499.2:c.287-612_287-611insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
FBXO24 transcript variant 3	NM_012172.4:c.437-635=	NM_012172.4:c.437-621_437-612del	NM_012172.4:c.437-620_437-612del	NM_012172.4:c.437-619_437-612del	NM_012172.4:c.437-618_437-612del	NM_012172.4:c.437-617_437-612del	NM_012172.4:c.437-616_437-612del	NM_012172.4:c.437-615_437-612del	NM_012172.4:c.437-614_437-612del	NM_012172.4:c.437-613_437-612del	NM_012172.4:c.437-612del	NM_012172.4:c.437-612dup	NM_012172.4:c.437-613_437-612dup	NM_012172.4:c.437-614_437-612dup	NM_012172.4:c.437-615_437-612dup	NM_012172.4:c.437-616_437-612dup	NM_012172.4:c.437-617_437-612dup	NM_012172.4:c.437-618_437-612dup	NM_012172.4:c.437-619_437-612dup	NM_012172.4:c.437-620_437-612dup	NM_012172.4:c.437-621_437-612dup	NM_012172.4:c.437-622_437-612dup	NM_012172.4:c.437-623_437-612dup	NM_012172.4:c.437-624_437-612dup	NM_012172.4:c.437-627_437-612dup	NM_012172.4:c.437-628_437-612dup	NM_012172.4:c.437-629_437-612dup	NM_012172.4:c.437-634_437-612dup	NM_012172.4:c.437-612_437-611insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_012172.4:c.437-612_437-611insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_012172.4:c.437-612_437-611insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_012172.4:c.437-612_437-611insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
FBXO24 transcript variant 3	NM_012172.5:c.437-635=	NM_012172.5:c.437-621_437-612del	NM_012172.5:c.437-620_437-612del	NM_012172.5:c.437-619_437-612del	NM_012172.5:c.437-618_437-612del	NM_012172.5:c.437-617_437-612del	NM_012172.5:c.437-616_437-612del	NM_012172.5:c.437-615_437-612del	NM_012172.5:c.437-614_437-612del	NM_012172.5:c.437-613_437-612del	NM_012172.5:c.437-612del	NM_012172.5:c.437-612dup	NM_012172.5:c.437-613_437-612dup	NM_012172.5:c.437-614_437-612dup	NM_012172.5:c.437-615_437-612dup	NM_012172.5:c.437-616_437-612dup	NM_012172.5:c.437-617_437-612dup	NM_012172.5:c.437-618_437-612dup	NM_012172.5:c.437-619_437-612dup	NM_012172.5:c.437-620_437-612dup	NM_012172.5:c.437-621_437-612dup	NM_012172.5:c.437-622_437-612dup	NM_012172.5:c.437-623_437-612dup	NM_012172.5:c.437-624_437-612dup	NM_012172.5:c.437-627_437-612dup	NM_012172.5:c.437-628_437-612dup	NM_012172.5:c.437-629_437-612dup	NM_012172.5:c.437-634_437-612dup	NM_012172.5:c.437-612_437-611insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_012172.5:c.437-612_437-611insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_012172.5:c.437-612_437-611insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_012172.5:c.437-612_437-611insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
FBXO24 transcript variant 1	NM_033506.2:c.323-635=	NM_033506.2:c.323-621_323-612del	NM_033506.2:c.323-620_323-612del	NM_033506.2:c.323-619_323-612del	NM_033506.2:c.323-618_323-612del	NM_033506.2:c.323-617_323-612del	NM_033506.2:c.323-616_323-612del	NM_033506.2:c.323-615_323-612del	NM_033506.2:c.323-614_323-612del	NM_033506.2:c.323-613_323-612del	NM_033506.2:c.323-612del	NM_033506.2:c.323-612dup	NM_033506.2:c.323-613_323-612dup	NM_033506.2:c.323-614_323-612dup	NM_033506.2:c.323-615_323-612dup	NM_033506.2:c.323-616_323-612dup	NM_033506.2:c.323-617_323-612dup	NM_033506.2:c.323-618_323-612dup	NM_033506.2:c.323-619_323-612dup	NM_033506.2:c.323-620_323-612dup	NM_033506.2:c.323-621_323-612dup	NM_033506.2:c.323-622_323-612dup	NM_033506.2:c.323-623_323-612dup	NM_033506.2:c.323-624_323-612dup	NM_033506.2:c.323-627_323-612dup	NM_033506.2:c.323-628_323-612dup	NM_033506.2:c.323-629_323-612dup	NM_033506.2:c.323-634_323-612dup	NM_033506.2:c.323-612_323-611insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_033506.2:c.323-612_323-611insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_033506.2:c.323-612_323-611insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_033506.2:c.323-612_323-611insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
FBXO24 transcript variant 1	NM_033506.3:c.323-635=	NM_033506.3:c.323-621_323-612del	NM_033506.3:c.323-620_323-612del	NM_033506.3:c.323-619_323-612del	NM_033506.3:c.323-618_323-612del	NM_033506.3:c.323-617_323-612del	NM_033506.3:c.323-616_323-612del	NM_033506.3:c.323-615_323-612del	NM_033506.3:c.323-614_323-612del	NM_033506.3:c.323-613_323-612del	NM_033506.3:c.323-612del	NM_033506.3:c.323-612dup	NM_033506.3:c.323-613_323-612dup	NM_033506.3:c.323-614_323-612dup	NM_033506.3:c.323-615_323-612dup	NM_033506.3:c.323-616_323-612dup	NM_033506.3:c.323-617_323-612dup	NM_033506.3:c.323-618_323-612dup	NM_033506.3:c.323-619_323-612dup	NM_033506.3:c.323-620_323-612dup	NM_033506.3:c.323-621_323-612dup	NM_033506.3:c.323-622_323-612dup	NM_033506.3:c.323-623_323-612dup	NM_033506.3:c.323-624_323-612dup	NM_033506.3:c.323-627_323-612dup	NM_033506.3:c.323-628_323-612dup	NM_033506.3:c.323-629_323-612dup	NM_033506.3:c.323-634_323-612dup	NM_033506.3:c.323-612_323-611insTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_033506.3:c.323-612_323-611insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_033506.3:c.323-612_323-611insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_033506.3:c.323-612_323-611insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
FBXO24 transcript variant X1	XM_005250259.1:c.437-635=	XM_005250259.1:c.437-621_437-612del	XM_005250259.1:c.437-620_437-612del	XM_005250259.1:c.437-619_437-612del	XM_005250259.1:c.437-618_437-612del	XM_005250259.1:c.437-617_437-612del	XM_005250259.1:c.437-616_437-612del	XM_005250259.1:c.437-615_437-612del	XM_005250259.1:c.437-614_437-612del	XM_005250259.1:c.437-613_437-612del	XM_005250259.1:c.437-612del	XM_005250259.1:c.437-612dup	XM_005250259.1:c.437-613_437-612dup	XM_005250259.1:c.437-614_437-612dup	XM_005250259.1:c.437-615_437-612dup	XM_005250259.1:c.437-616_437-612dup	XM_005250259.1:c.437-617_437-612dup	XM_005250259.1:c.437-618_437-612dup	XM_005250259.1:c.437-619_437-612dup	XM_005250259.1:c.437-620_437-612dup	XM_005250259.1:c.437-621_437-612dup	XM_005250259.1:c.437-622_437-612dup	XM_005250259.1:c.437-623_437-612dup	XM_005250259.1:c.437-624_437-612dup	XM_005250259.1:c.437-627_437-612dup	XM_005250259.1:c.437-628_437-612dup	XM_005250259.1:c.437-629_437-612dup	XM_005250259.1:c.437-634_437-612dup	XM_005250259.1:c.437-612_437-611insTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005250259.1:c.437-612_437-611insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005250259.1:c.437-612_437-611insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005250259.1:c.437-612_437-611insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
FBXO24 transcript variant X2	XM_005250259.5:c.437-635=	XM_005250259.5:c.437-621_437-612del	XM_005250259.5:c.437-620_437-612del	XM_005250259.5:c.437-619_437-612del	XM_005250259.5:c.437-618_437-612del	XM_005250259.5:c.437-617_437-612del	XM_005250259.5:c.437-616_437-612del	XM_005250259.5:c.437-615_437-612del	XM_005250259.5:c.437-614_437-612del	XM_005250259.5:c.437-613_437-612del	XM_005250259.5:c.437-612del	XM_005250259.5:c.437-612dup	XM_005250259.5:c.437-613_437-612dup	XM_005250259.5:c.437-614_437-612dup	XM_005250259.5:c.437-615_437-612dup	XM_005250259.5:c.437-616_437-612dup	XM_005250259.5:c.437-617_437-612dup	XM_005250259.5:c.437-618_437-612dup	XM_005250259.5:c.437-619_437-612dup	XM_005250259.5:c.437-620_437-612dup	XM_005250259.5:c.437-621_437-612dup	XM_005250259.5:c.437-622_437-612dup	XM_005250259.5:c.437-623_437-612dup	XM_005250259.5:c.437-624_437-612dup	XM_005250259.5:c.437-627_437-612dup	XM_005250259.5:c.437-628_437-612dup	XM_005250259.5:c.437-629_437-612dup	XM_005250259.5:c.437-634_437-612dup	XM_005250259.5:c.437-612_437-611insTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005250259.5:c.437-612_437-611insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005250259.5:c.437-612_437-611insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005250259.5:c.437-612_437-611insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
FBXO24 transcript variant X2	XM_005250260.1:c.281-635=	XM_005250260.1:c.281-621_281-612del	XM_005250260.1:c.281-620_281-612del	XM_005250260.1:c.281-619_281-612del	XM_005250260.1:c.281-618_281-612del	XM_005250260.1:c.281-617_281-612del	XM_005250260.1:c.281-616_281-612del	XM_005250260.1:c.281-615_281-612del	XM_005250260.1:c.281-614_281-612del	XM_005250260.1:c.281-613_281-612del	XM_005250260.1:c.281-612del	XM_005250260.1:c.281-612dup	XM_005250260.1:c.281-613_281-612dup	XM_005250260.1:c.281-614_281-612dup	XM_005250260.1:c.281-615_281-612dup	XM_005250260.1:c.281-616_281-612dup	XM_005250260.1:c.281-617_281-612dup	XM_005250260.1:c.281-618_281-612dup	XM_005250260.1:c.281-619_281-612dup	XM_005250260.1:c.281-620_281-612dup	XM_005250260.1:c.281-621_281-612dup	XM_005250260.1:c.281-622_281-612dup	XM_005250260.1:c.281-623_281-612dup	XM_005250260.1:c.281-624_281-612dup	XM_005250260.1:c.281-627_281-612dup	XM_005250260.1:c.281-628_281-612dup	XM_005250260.1:c.281-629_281-612dup	XM_005250260.1:c.281-634_281-612dup	XM_005250260.1:c.281-612_281-611insTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005250260.1:c.281-612_281-611insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005250260.1:c.281-612_281-611insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_005250260.1:c.281-612_281-611insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
FBXO24 transcript variant X1	XM_011516022.1:c.338-635=	XM_011516022.1:c.338-621_338-612del	XM_011516022.1:c.338-620_338-612del	XM_011516022.1:c.338-619_338-612del	XM_011516022.1:c.338-618_338-612del	XM_011516022.1:c.338-617_338-612del	XM_011516022.1:c.338-616_338-612del	XM_011516022.1:c.338-615_338-612del	XM_011516022.1:c.338-614_338-612del	XM_011516022.1:c.338-613_338-612del	XM_011516022.1:c.338-612del	XM_011516022.1:c.338-612dup	XM_011516022.1:c.338-613_338-612dup	XM_011516022.1:c.338-614_338-612dup	XM_011516022.1:c.338-615_338-612dup	XM_011516022.1:c.338-616_338-612dup	XM_011516022.1:c.338-617_338-612dup	XM_011516022.1:c.338-618_338-612dup	XM_011516022.1:c.338-619_338-612dup	XM_011516022.1:c.338-620_338-612dup	XM_011516022.1:c.338-621_338-612dup	XM_011516022.1:c.338-622_338-612dup	XM_011516022.1:c.338-623_338-612dup	XM_011516022.1:c.338-624_338-612dup	XM_011516022.1:c.338-627_338-612dup	XM_011516022.1:c.338-628_338-612dup	XM_011516022.1:c.338-629_338-612dup	XM_011516022.1:c.338-634_338-612dup	XM_011516022.1:c.338-612_338-611insTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_011516022.1:c.338-612_338-611insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_011516022.1:c.338-612_338-611insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_011516022.1:c.338-612_338-611insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
FBXO24 transcript variant X3	XM_047420182.1:c.323-635=	XM_047420182.1:c.323-621_323-612del	XM_047420182.1:c.323-620_323-612del	XM_047420182.1:c.323-619_323-612del	XM_047420182.1:c.323-618_323-612del	XM_047420182.1:c.323-617_323-612del	XM_047420182.1:c.323-616_323-612del	XM_047420182.1:c.323-615_323-612del	XM_047420182.1:c.323-614_323-612del	XM_047420182.1:c.323-613_323-612del	XM_047420182.1:c.323-612del	XM_047420182.1:c.323-612dup	XM_047420182.1:c.323-613_323-612dup	XM_047420182.1:c.323-614_323-612dup	XM_047420182.1:c.323-615_323-612dup	XM_047420182.1:c.323-616_323-612dup	XM_047420182.1:c.323-617_323-612dup	XM_047420182.1:c.323-618_323-612dup	XM_047420182.1:c.323-619_323-612dup	XM_047420182.1:c.323-620_323-612dup	XM_047420182.1:c.323-621_323-612dup	XM_047420182.1:c.323-622_323-612dup	XM_047420182.1:c.323-623_323-612dup	XM_047420182.1:c.323-624_323-612dup	XM_047420182.1:c.323-627_323-612dup	XM_047420182.1:c.323-628_323-612dup	XM_047420182.1:c.323-629_323-612dup	XM_047420182.1:c.323-634_323-612dup	XM_047420182.1:c.323-612_323-611insTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_047420182.1:c.323-612_323-611insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_047420182.1:c.323-612_323-611insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_047420182.1:c.323-612_323-611insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
FBXO24 transcript variant X4	XM_047420183.1:c.-182-635=	XM_047420183.1:c.-182-621_-182-612del	XM_047420183.1:c.-182-620_-182-612del	XM_047420183.1:c.-182-619_-182-612del	XM_047420183.1:c.-182-618_-182-612del	XM_047420183.1:c.-182-617_-182-612del	XM_047420183.1:c.-182-616_-182-612del	XM_047420183.1:c.-182-615_-182-612del	XM_047420183.1:c.-182-614_-182-612del	XM_047420183.1:c.-182-613_-182-612del	XM_047420183.1:c.-182-612del	XM_047420183.1:c.-182-612dup	XM_047420183.1:c.-182-613_-182-612dup	XM_047420183.1:c.-182-614_-182-612dup	XM_047420183.1:c.-182-615_-182-612dup	XM_047420183.1:c.-182-616_-182-612dup	XM_047420183.1:c.-182-617_-182-612dup	XM_047420183.1:c.-182-618_-182-612dup	XM_047420183.1:c.-182-619_-182-612dup	XM_047420183.1:c.-182-620_-182-612dup	XM_047420183.1:c.-182-621_-182-612dup	XM_047420183.1:c.-182-622_-182-612dup	XM_047420183.1:c.-182-623_-182-612dup	XM_047420183.1:c.-182-624_-182-612dup	XM_047420183.1:c.-182-627_-182-612dup	XM_047420183.1:c.-182-628_-182-612dup	XM_047420183.1:c.-182-629_-182-612dup	XM_047420183.1:c.-182-634_-182-612dup	XM_047420183.1:c.-182-612_-182-611insTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_047420183.1:c.-182-612_-182-611insTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_047420183.1:c.-182-612_-182-611insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	XM_047420183.1:c.-182-612_-182-611insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

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#.

55 SubSNP, 43 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	SWEGEN	ss3001717452	Nov 08, 2017 (151)
2	EVA	ss3830724581	Apr 26, 2020 (154)
3	GNOMAD	ss4169512228	Apr 26, 2021 (155)
4	GNOMAD	ss4169512229	Apr 26, 2021 (155)
5	GNOMAD	ss4169512230	Apr 26, 2021 (155)
6	GNOMAD	ss4169512231	Apr 26, 2021 (155)
7	GNOMAD	ss4169512232	Apr 26, 2021 (155)
8	GNOMAD	ss4169512233	Apr 26, 2021 (155)
9	GNOMAD	ss4169512234	Apr 26, 2021 (155)
10	GNOMAD	ss4169512235	Apr 26, 2021 (155)
11	GNOMAD	ss4169512236	Apr 26, 2021 (155)
12	GNOMAD	ss4169512237	Apr 26, 2021 (155)
13	GNOMAD	ss4169512238	Apr 26, 2021 (155)
14	GNOMAD	ss4169512239	Apr 26, 2021 (155)
15	GNOMAD	ss4169512240	Apr 26, 2021 (155)
16	GNOMAD	ss4169512241	Apr 26, 2021 (155)
17	GNOMAD	ss4169512242	Apr 26, 2021 (155)
18	GNOMAD	ss4169512243	Apr 26, 2021 (155)
19	GNOMAD	ss4169512244	Apr 26, 2021 (155)
20	GNOMAD	ss4169512245	Apr 26, 2021 (155)
21	GNOMAD	ss4169512247	Apr 26, 2021 (155)
22	GNOMAD	ss4169512248	Apr 26, 2021 (155)
23	GNOMAD	ss4169512249	Apr 26, 2021 (155)
24	GNOMAD	ss4169512250	Apr 26, 2021 (155)
25	GNOMAD	ss4169512251	Apr 26, 2021 (155)
26	GNOMAD	ss4169512252	Apr 26, 2021 (155)
27	GNOMAD	ss4169512253	Apr 26, 2021 (155)
28	GNOMAD	ss4169512254	Apr 26, 2021 (155)
29	GNOMAD	ss4169512255	Apr 26, 2021 (155)
30	GNOMAD	ss4169512256	Apr 26, 2021 (155)
31	TOPMED	ss4756789922	Apr 26, 2021 (155)
32	TOPMED	ss4756789923	Apr 26, 2021 (155)
33	TOMMO_GENOMICS	ss5184693333	Apr 26, 2021 (155)
34	TOMMO_GENOMICS	ss5184693334	Apr 26, 2021 (155)
35	TOMMO_GENOMICS	ss5184693335	Apr 26, 2021 (155)
36	TOMMO_GENOMICS	ss5184693336	Apr 26, 2021 (155)
37	TOMMO_GENOMICS	ss5184693337	Apr 26, 2021 (155)
38	TOMMO_GENOMICS	ss5184693338	Apr 26, 2021 (155)
39	1000G_HIGH_COVERAGE	ss5274053436	Oct 16, 2022 (156)
40	1000G_HIGH_COVERAGE	ss5274053437	Oct 16, 2022 (156)
41	1000G_HIGH_COVERAGE	ss5274053438	Oct 16, 2022 (156)
42	1000G_HIGH_COVERAGE	ss5274053439	Oct 16, 2022 (156)
43	1000G_HIGH_COVERAGE	ss5274053440	Oct 16, 2022 (156)
44	1000G_HIGH_COVERAGE	ss5274053441	Oct 16, 2022 (156)
45	HUGCELL_USP	ss5471020357	Oct 16, 2022 (156)
46	HUGCELL_USP	ss5471020358	Oct 16, 2022 (156)
47	HUGCELL_USP	ss5471020359	Oct 16, 2022 (156)
48	TOMMO_GENOMICS	ss5725416208	Oct 16, 2022 (156)
49	TOMMO_GENOMICS	ss5725416209	Oct 16, 2022 (156)
50	TOMMO_GENOMICS	ss5725416210	Oct 16, 2022 (156)
51	TOMMO_GENOMICS	ss5725416211	Oct 16, 2022 (156)
52	TOMMO_GENOMICS	ss5725416212	Oct 16, 2022 (156)
53	TOMMO_GENOMICS	ss5725416213	Oct 16, 2022 (156)
54	EVA	ss5823263393	Oct 16, 2022 (156)
55	EVA	ss5823263394	Oct 16, 2022 (156)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 270830955 (NC_000007.14:100591031::TTT 588/79734) Row 270830956 (NC_000007.14:100591031::TTTTT 453/79744) Row 270830957 (NC_000007.14:100591031::TTTTTT 201/79764)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 270830955 (NC_000007.14:100591031::TTT 588/79734) Row 270830956 (NC_000007.14:100591031::TTTTT 453/79744) Row 270830957 (NC_000007.14:100591031::TTTTTT 201/79764)...	-	Apr 26, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 270830955 (NC_000007.14:100591031::TTT 588/79734) Row 270830956 (NC_000007.14:100591031::TTTTT 453/79744) Row 270830957 (NC_000007.14:100591031::TTTTTT 201/79764)...	-	Apr 26, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 270830955 (NC_000007.14:100591031::TTT 588/79734) Row 270830956 (NC_000007.14:100591031::TTTTT 453/79744) Row 270830957 (NC_000007.14:100591031::TTTTTT 201/79764)...	-	Apr 26, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 270830955 (NC_000007.14:100591031::TTT 588/79734) Row 270830956 (NC_000007.14:100591031::TTTTT 453/79744) Row 270830957 (NC_000007.14:100591031::TTTTTT 201/79764)...	-	Apr 26, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 270830955 (NC_000007.14:100591031::TTT 588/79734) Row 270830956 (NC_000007.14:100591031::TTTTT 453/79744) Row 270830957 (NC_000007.14:100591031::TTTTTT 201/79764)...	-	Apr 26, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 270830955 (NC_000007.14:100591031::TTT 588/79734) Row 270830956 (NC_000007.14:100591031::TTTTT 453/79744) Row 270830957 (NC_000007.14:100591031::TTTTTT 201/79764)...	-	Apr 26, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 270830955 (NC_000007.14:100591031::TTT 588/79734) Row 270830956 (NC_000007.14:100591031::TTTTT 453/79744) Row 270830957 (NC_000007.14:100591031::TTTTTT 201/79764)...	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 270830955 (NC_000007.14:100591031::TTT 588/79734) Row 270830956 (NC_000007.14:100591031::TTTTT 453/79744) Row 270830957 (NC_000007.14:100591031::TTTTTT 201/79764)...	-	Apr 26, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 270830955 (NC_000007.14:100591031::TTT 588/79734) Row 270830956 (NC_000007.14:100591031::TTTTT 453/79744) Row 270830957 (NC_000007.14:100591031::TTTTTT 201/79764)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 270830955 (NC_000007.14:100591031::TTT 588/79734) Row 270830956 (NC_000007.14:100591031::TTTTT 453/79744) Row 270830957 (NC_000007.14:100591031::TTTTTT 201/79764)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 270830955 (NC_000007.14:100591031::TTT 588/79734) Row 270830956 (NC_000007.14:100591031::TTTTT 453/79744) Row 270830957 (NC_000007.14:100591031::TTTTTT 201/79764)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 270830955 (NC_000007.14:100591031::TTT 588/79734) Row 270830956 (NC_000007.14:100591031::TTTTT 453/79744) Row 270830957 (NC_000007.14:100591031::TTTTTT 201/79764)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 270830955 (NC_000007.14:100591031::TTT 588/79734) Row 270830956 (NC_000007.14:100591031::TTTTT 453/79744) Row 270830957 (NC_000007.14:100591031::TTTTTT 201/79764)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 270830955 (NC_000007.14:100591031::TTT 588/79734) Row 270830956 (NC_000007.14:100591031::TTTTT 453/79744) Row 270830957 (NC_000007.14:100591031::TTTTTT 201/79764)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 270830955 (NC_000007.14:100591031::TTT 588/79734) Row 270830956 (NC_000007.14:100591031::TTTTT 453/79744) Row 270830957 (NC_000007.14:100591031::TTTTTT 201/79764)...	-	Apr 26, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 270830955 (NC_000007.14:100591031::TTT 588/79734) Row 270830956 (NC_000007.14:100591031::TTTTT 453/79744) Row 270830957 (NC_000007.14:100591031::TTTTTT 201/79764)...	-	Apr 26, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 270830955 (NC_000007.14:100591031::TTT 588/79734) Row 270830956 (NC_000007.14:100591031::TTTTT 453/79744) Row 270830957 (NC_000007.14:100591031::TTTTTT 201/79764)...	-	Apr 26, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 270830955 (NC_000007.14:100591031::TTT 588/79734) Row 270830956 (NC_000007.14:100591031::TTTTT 453/79744) Row 270830957 (NC_000007.14:100591031::TTTTTT 201/79764)...	-	Apr 26, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 270830955 (NC_000007.14:100591031::TTT 588/79734) Row 270830956 (NC_000007.14:100591031::TTTTT 453/79744) Row 270830957 (NC_000007.14:100591031::TTTTTT 201/79764)...	-	Apr 26, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 270830955 (NC_000007.14:100591031::TTT 588/79734) Row 270830956 (NC_000007.14:100591031::TTTTT 453/79744) Row 270830957 (NC_000007.14:100591031::TTTTTT 201/79764)...	-	Apr 26, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 270830955 (NC_000007.14:100591031::TTT 588/79734) Row 270830956 (NC_000007.14:100591031::TTTTT 453/79744) Row 270830957 (NC_000007.14:100591031::TTTTTT 201/79764)...	-	Apr 26, 2021 (155)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 270830955 (NC_000007.14:100591031::TTT 588/79734) Row 270830956 (NC_000007.14:100591031::TTTTT 453/79744) Row 270830957 (NC_000007.14:100591031::TTTTTT 201/79764)...	-	Apr 26, 2021 (155)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 270830955 (NC_000007.14:100591031::TTT 588/79734) Row 270830956 (NC_000007.14:100591031::TTTTT 453/79744) Row 270830957 (NC_000007.14:100591031::TTTTTT 201/79764)...	-	Apr 26, 2021 (155)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 270830955 (NC_000007.14:100591031::TTT 588/79734) Row 270830956 (NC_000007.14:100591031::TTTTT 453/79744) Row 270830957 (NC_000007.14:100591031::TTTTTT 201/79764)...	-	Apr 26, 2021 (155)
81	gnomAD - Genomes Submission ignored due to conflicting rows: Row 270830955 (NC_000007.14:100591031::TTT 588/79734) Row 270830956 (NC_000007.14:100591031::TTTTT 453/79744) Row 270830957 (NC_000007.14:100591031::TTTTTT 201/79764)...	-	Apr 26, 2021 (155)
82	gnomAD - Genomes Submission ignored due to conflicting rows: Row 270830955 (NC_000007.14:100591031::TTT 588/79734) Row 270830956 (NC_000007.14:100591031::TTTTT 453/79744) Row 270830957 (NC_000007.14:100591031::TTTTTT 201/79764)...	-	Apr 26, 2021 (155)
83	gnomAD - Genomes Submission ignored due to conflicting rows: Row 270830955 (NC_000007.14:100591031::TTT 588/79734) Row 270830956 (NC_000007.14:100591031::TTTTT 453/79744) Row 270830957 (NC_000007.14:100591031::TTTTTT 201/79764)...	-	Apr 26, 2021 (155)
84	8.3KJPN Submission ignored due to conflicting rows: Row 42662640 (NC_000007.13:100188654::T 2999/16382) Row 42662641 (NC_000007.13:100188654::TT 1701/16382) Row 42662642 (NC_000007.13:100188654:TTTTTTT: 5/16382)...	-	Apr 26, 2021 (155)
85	8.3KJPN Submission ignored due to conflicting rows: Row 42662640 (NC_000007.13:100188654::T 2999/16382) Row 42662641 (NC_000007.13:100188654::TT 1701/16382) Row 42662642 (NC_000007.13:100188654:TTTTTTT: 5/16382)...	-	Apr 26, 2021 (155)
86	8.3KJPN Submission ignored due to conflicting rows: Row 42662640 (NC_000007.13:100188654::T 2999/16382) Row 42662641 (NC_000007.13:100188654::TT 1701/16382) Row 42662642 (NC_000007.13:100188654:TTTTTTT: 5/16382)...	-	Apr 26, 2021 (155)
87	8.3KJPN Submission ignored due to conflicting rows: Row 42662640 (NC_000007.13:100188654::T 2999/16382) Row 42662641 (NC_000007.13:100188654::TT 1701/16382) Row 42662642 (NC_000007.13:100188654:TTTTTTT: 5/16382)...	-	Apr 26, 2021 (155)
88	8.3KJPN Submission ignored due to conflicting rows: Row 42662640 (NC_000007.13:100188654::T 2999/16382) Row 42662641 (NC_000007.13:100188654::TT 1701/16382) Row 42662642 (NC_000007.13:100188654:TTTTTTT: 5/16382)...	-	Apr 26, 2021 (155)
89	8.3KJPN Submission ignored due to conflicting rows: Row 42662640 (NC_000007.13:100188654::T 2999/16382) Row 42662641 (NC_000007.13:100188654::TT 1701/16382) Row 42662642 (NC_000007.13:100188654:TTTTTTT: 5/16382)...	-	Apr 26, 2021 (155)
90	14KJPN Submission ignored due to conflicting rows: Row 59253312 (NC_000007.14:100591031::T 4131/25768) Row 59253313 (NC_000007.14:100591031::TT 2415/25768) Row 59253314 (NC_000007.14:100591031:T: 81/25768)...	-	Oct 16, 2022 (156)
91	14KJPN Submission ignored due to conflicting rows: Row 59253312 (NC_000007.14:100591031::T 4131/25768) Row 59253313 (NC_000007.14:100591031::TT 2415/25768) Row 59253314 (NC_000007.14:100591031:T: 81/25768)...	-	Oct 16, 2022 (156)
92	14KJPN Submission ignored due to conflicting rows: Row 59253312 (NC_000007.14:100591031::T 4131/25768) Row 59253313 (NC_000007.14:100591031::TT 2415/25768) Row 59253314 (NC_000007.14:100591031:T: 81/25768)...	-	Oct 16, 2022 (156)
93	14KJPN Submission ignored due to conflicting rows: Row 59253312 (NC_000007.14:100591031::T 4131/25768) Row 59253313 (NC_000007.14:100591031::TT 2415/25768) Row 59253314 (NC_000007.14:100591031:T: 81/25768)...	-	Oct 16, 2022 (156)
94	14KJPN Submission ignored due to conflicting rows: Row 59253312 (NC_000007.14:100591031::T 4131/25768) Row 59253313 (NC_000007.14:100591031::TT 2415/25768) Row 59253314 (NC_000007.14:100591031:T: 81/25768)...	-	Oct 16, 2022 (156)
95	14KJPN Submission ignored due to conflicting rows: Row 59253312 (NC_000007.14:100591031::T 4131/25768) Row 59253313 (NC_000007.14:100591031::TT 2415/25768) Row 59253314 (NC_000007.14:100591031:T: 81/25768)...	-	Oct 16, 2022 (156)
96	TopMed Submission ignored due to conflicting rows: Row 594167481 (NC_000007.14:100591031:TTTTTTT: 45/264690) Row 594167482 (NC_000007.14:100591031:TTTTTTTTTT: 7/264690)	-	Apr 26, 2021 (155)
97	TopMed Submission ignored due to conflicting rows: Row 594167481 (NC_000007.14:100591031:TTTTTTT: 45/264690) Row 594167482 (NC_000007.14:100591031:TTTTTTTTTT: 7/264690)	-	Apr 26, 2021 (155)
98	ALFA	NC_000007.14 - 100591032	Apr 26, 2021 (155)

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

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss5184693337	NC_000007.13:100188654:TTTTTTTTTT:	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss4169512256, ss4756789923, ss5725416211	NC_000007.14:100591031:TTTTTTTTTT:	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
10659558697	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
ss4169512255	NC_000007.14:100591031:TTTTTTTTT:	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
10659558697	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss4169512254, ss5725416213	NC_000007.14:100591031:TTTTTTTT:	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
10659558697	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
ss5184693335	NC_000007.13:100188654:TTTTTTT:	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4169512253, ss4756789922	NC_000007.14:100591031:TTTTTTT:	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
10659558697	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4169512252	NC_000007.14:100591031:TTTTTT:	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
10659558697	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4169512251	NC_000007.14:100591031:TTTTT:	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
10659558697	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
ss4169512250	NC_000007.14:100591031:TTTT:	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
10659558697	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4169512249	NC_000007.14:100591031:TTT:	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
10659558697	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss4169512248	NC_000007.14:100591031:TT:	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
10659558697	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss3001717452, ss3830724581, ss5184693336	NC_000007.13:100188654:T:	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4169512247, ss5274053440, ss5471020359, ss5725416210	NC_000007.14:100591031:T:	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
10659558697	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss5184693333	NC_000007.13:100188654::T	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss5274053436, ss5471020357, ss5725416208	NC_000007.14:100591031::T	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
10659558697	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss5184693334	NC_000007.13:100188654::TT	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss5274053437, ss5471020358, ss5725416209	NC_000007.14:100591031::TT	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
10659558697	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss5184693338, ss5823263393	NC_000007.13:100188654::TTT	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4169512228, ss5274053438, ss5725416212	NC_000007.14:100591031::TTT	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
10659558697	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss5823263394	NC_000007.13:100188654::TTTT	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
ss5274053441	NC_000007.14:100591031::TTTT	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
10659558697	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4169512229, ss5274053439	NC_000007.14:100591031::TTTTT	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
10659558697	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4169512230	NC_000007.14:100591031::TTTTTT	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
10659558697	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4169512231	NC_000007.14:100591031::TTTTTTT	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4169512232	NC_000007.14:100591031::TTTTTTTT	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4169512233	NC_000007.14:100591031::TTTTTTTTT	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4169512234	NC_000007.14:100591031::TTTTTTTTTT	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4169512235	NC_000007.14:100591031::TTTTTTTTTTT	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4169512236	NC_000007.14:100591031::TTTTTTTTTT… NC_000007.14:100591031::TTTTTTTTTTTT	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4169512237	NC_000007.14:100591031::TTTTTTTTTT… NC_000007.14:100591031::TTTTTTTTTTTTT	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4169512238	NC_000007.14:100591031::TTTTTTTTTT… NC_000007.14:100591031::TTTTTTTTTTTTTTTT	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4169512239	NC_000007.14:100591031::TTTTTTTTTT… NC_000007.14:100591031::TTTTTTTTTTTTTTTTT	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4169512240	NC_000007.14:100591031::TTTTTTTTTT… NC_000007.14:100591031::TTTTTTTTTTTTTTTTTT	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4169512241	NC_000007.14:100591031::TTTTTTTTTT… NC_000007.14:100591031::TTTTTTTTTTTTTTTTTTTTTTT	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4169512242	NC_000007.14:100591031::TTTTTTTTTT… NC_000007.14:100591031::TTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4169512243	NC_000007.14:100591031::TTTTTTTTTT… NC_000007.14:100591031::TTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4169512244	NC_000007.14:100591031::TTTTTTTTTT… NC_000007.14:100591031::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4169512245	NC_000007.14:100591031::TTTTTTTTTT… NC_000007.14:100591031::TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000007.14:100591031:TTTTTTTTTTT… NC_000007.14:100591031:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(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 rs930978218

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs930978218