Name: rs748181749
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.

rs748181749

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:224191591-224191614 (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)₁₆ / del(T)₁₄ / del(T)₁₃ / d…
del(T)₁₆ / del(T)₁₄ / del(T)₁₃ / 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)₁₁ / ins(T)₂₇
Variation Type: Indel Insertion and Deletion
Frequency: delT=0.2058 (1020/4956, ALFA)
delT=0.35 (14/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: DEGS1 : 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	4956	TTTTTTTTTTTTTTTTTTTTTTTT=0.7328	TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, 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=0.0040, TTTTTTTTTTTTTTTTTTTTTTT=0.2058, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0343, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0190, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0022, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0018, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	0.625448	0.015233	0.359319	25
European	Sub	4696	TTTTTTTTTTTTTTTTTTTTTTTT=0.7189	TTTTTTTTTT=0.0000, TTTTTTTTTTT=0.0000, 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=0.0043, TTTTTTTTTTTTTTTTTTTTTTT=0.2166, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0360, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0200, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0023, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0019, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0000	0.603424	0.016167	0.380409	29
African	Sub	214	TTTTTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, 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	1.0	0.0	0.0	N/A
African Others	Sub	6	TTTTTTTTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
African American	Sub	208	TTTTTTTTTTTTTTTTTTTTTTTT=1.000	TTTTTTTTTT=0.000, TTTTTTTTTTT=0.000, 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	1.0	0.0	0.0	N/A
Asian	Sub	2	TTTTTTTTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
East Asian	Sub	2	TTTTTTTTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Other Asian	Sub	0	TTTTTTTTTTTTTTTTTTTTTTTT=0	TTTTTTTTTT=0, TTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Latin American 1	Sub	2	TTTTTTTTTTTTTTTTTTTTTTTT=1.0	TTTTTTTTTT=0.0, TTTTTTTTTTT=0.0, TTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0	1.0	0.0	0.0	N/A
Latin American 2	Sub	14	TTTTTTTTTTTTTTTTTTTTTTTT=1.00	TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, 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	1.0	0.0	0.0	N/A
South Asian	Sub	0	TTTTTTTTTTTTTTTTTTTTTTTT=0	TTTTTTTTTT=0, TTTTTTTTTTT=0, TTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0	0	0	0	N/A
Other	Sub	28	TTTTTTTTTTTTTTTTTTTTTTTT=0.86	TTTTTTTTTT=0.00, TTTTTTTTTTT=0.00, 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=0.11, TTTTTTTTTTTTTTTTTTTTTTTTT=0.04, TTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00, TTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.00	0.846154	0.0	0.153846	0

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	4956	(T)₂₄=0.7328	del(T)₁₄=0.0000, del(T)₁₃=0.0000, 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=0.0040, delT=0.2058, dupT=0.0343, dupTT=0.0190, dupTTT=0.0022, dup(T)₄=0.0018, dup(T)₅=0.0000
Allele Frequency Aggregator	European	Sub	4696	(T)₂₄=0.7189	del(T)₁₄=0.0000, del(T)₁₃=0.0000, 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=0.0043, delT=0.2166, dupT=0.0360, dupTT=0.0200, dupTTT=0.0023, dup(T)₄=0.0019, dup(T)₅=0.0000
Allele Frequency Aggregator	African	Sub	214	(T)₂₄=1.000	del(T)₁₄=0.000, del(T)₁₃=0.000, 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
Allele Frequency Aggregator	Other	Sub	28	(T)₂₄=0.86	del(T)₁₄=0.00, del(T)₁₃=0.00, 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=0.11, dupT=0.04, dupTT=0.00, dupTTT=0.00, dup(T)₄=0.00, dup(T)₅=0.00
Allele Frequency Aggregator	Latin American 2	Sub	14	(T)₂₄=1.00	del(T)₁₄=0.00, del(T)₁₃=0.00, 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
Allele Frequency Aggregator	Latin American 1	Sub	2	(T)₂₄=1.0	del(T)₁₄=0.0, del(T)₁₃=0.0, del(T)₁₀=0.0, del(T)₉=0.0, del(T)₈=0.0, del(T)₇=0.0, del(T)₆=0.0, del(T)₅=0.0, del(T)₄=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dupTTT=0.0, dup(T)₄=0.0, dup(T)₅=0.0
Allele Frequency Aggregator	Asian	Sub	2	(T)₂₄=1.0	del(T)₁₄=0.0, del(T)₁₃=0.0, del(T)₁₀=0.0, del(T)₉=0.0, del(T)₈=0.0, del(T)₇=0.0, del(T)₆=0.0, del(T)₅=0.0, del(T)₄=0.0, delTTT=0.0, delTT=0.0, delT=0.0, dupT=0.0, dupTT=0.0, dupTTT=0.0, dup(T)₄=0.0, dup(T)₅=0.0
Allele Frequency Aggregator	South Asian	Sub	0	(T)₂₄=0	del(T)₁₄=0, del(T)₁₃=0, del(T)₁₀=0, del(T)₉=0, del(T)₈=0, del(T)₇=0, del(T)₆=0, del(T)₅=0, del(T)₄=0, delTTT=0, delTT=0, delT=0, dupT=0, dupTT=0, dupTTT=0, dup(T)₄=0, dup(T)₅=0
The Danish reference pan genome	Danish	Study-wide	40	(T)₂₄=0.65	delT=0.35

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 1	NC_000001.11:g.224191599_224191614del
GRCh38.p14 chr 1	NC_000001.11:g.224191601_224191614del
GRCh38.p14 chr 1	NC_000001.11:g.224191602_224191614del
GRCh38.p14 chr 1	NC_000001.11:g.224191605_224191614del
GRCh38.p14 chr 1	NC_000001.11:g.224191606_224191614del
GRCh38.p14 chr 1	NC_000001.11:g.224191607_224191614del
GRCh38.p14 chr 1	NC_000001.11:g.224191608_224191614del
GRCh38.p14 chr 1	NC_000001.11:g.224191609_224191614del
GRCh38.p14 chr 1	NC_000001.11:g.224191610_224191614del
GRCh38.p14 chr 1	NC_000001.11:g.224191611_224191614del
GRCh38.p14 chr 1	NC_000001.11:g.224191612_224191614del
GRCh38.p14 chr 1	NC_000001.11:g.224191613_224191614del
GRCh38.p14 chr 1	NC_000001.11:g.224191614del
GRCh38.p14 chr 1	NC_000001.11:g.224191614dup
GRCh38.p14 chr 1	NC_000001.11:g.224191613_224191614dup
GRCh38.p14 chr 1	NC_000001.11:g.224191612_224191614dup
GRCh38.p14 chr 1	NC_000001.11:g.224191611_224191614dup
GRCh38.p14 chr 1	NC_000001.11:g.224191610_224191614dup
GRCh38.p14 chr 1	NC_000001.11:g.224191609_224191614dup
GRCh38.p14 chr 1	NC_000001.11:g.224191608_224191614dup
GRCh38.p14 chr 1	NC_000001.11:g.224191607_224191614dup
GRCh38.p14 chr 1	NC_000001.11:g.224191604_224191614dup
GRCh38.p14 chr 1	NC_000001.11:g.224191614_224191615insTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 1	NC_000001.10:g.224379301_224379316del
GRCh37.p13 chr 1	NC_000001.10:g.224379303_224379316del
GRCh37.p13 chr 1	NC_000001.10:g.224379304_224379316del
GRCh37.p13 chr 1	NC_000001.10:g.224379307_224379316del
GRCh37.p13 chr 1	NC_000001.10:g.224379308_224379316del
GRCh37.p13 chr 1	NC_000001.10:g.224379309_224379316del
GRCh37.p13 chr 1	NC_000001.10:g.224379310_224379316del
GRCh37.p13 chr 1	NC_000001.10:g.224379311_224379316del
GRCh37.p13 chr 1	NC_000001.10:g.224379312_224379316del
GRCh37.p13 chr 1	NC_000001.10:g.224379313_224379316del
GRCh37.p13 chr 1	NC_000001.10:g.224379314_224379316del
GRCh37.p13 chr 1	NC_000001.10:g.224379315_224379316del
GRCh37.p13 chr 1	NC_000001.10:g.224379316del
GRCh37.p13 chr 1	NC_000001.10:g.224379316dup
GRCh37.p13 chr 1	NC_000001.10:g.224379315_224379316dup
GRCh37.p13 chr 1	NC_000001.10:g.224379314_224379316dup
GRCh37.p13 chr 1	NC_000001.10:g.224379313_224379316dup
GRCh37.p13 chr 1	NC_000001.10:g.224379312_224379316dup
GRCh37.p13 chr 1	NC_000001.10:g.224379311_224379316dup
GRCh37.p13 chr 1	NC_000001.10:g.224379310_224379316dup
GRCh37.p13 chr 1	NC_000001.10:g.224379309_224379316dup
GRCh37.p13 chr 1	NC_000001.10:g.224379306_224379316dup
GRCh37.p13 chr 1	NC_000001.10:g.224379316_224379317insTTTTTTTTTTTTTTTTTTTTTTTTTTT

Gene: DEGS1, delta 4-desaturase, sphingolipid 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
DEGS1 transcript variant 2	NM_001321541.2:c.23+443_… NM_001321541.2:c.23+443_*23+458del	N/A	Intron Variant
DEGS1 transcript variant 3	NM_001321542.2:c.718-733_… NM_001321542.2:c.718-733_718-718del	N/A	Intron Variant
DEGS1 transcript variant 1	NM_003676.4:c.826-733_826… NM_003676.4:c.826-733_826-718del	N/A	Intron Variant
DEGS1 transcript variant X1	XM_017002648.3:c.718-733_… XM_017002648.3:c.718-733_718-718del	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)₁₆	del(T)₁₄	del(T)₁₃	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)₁₁	ins(T)₂₇
GRCh38.p14 chr 1	NC_000001.11:g.224191591_224191614=	NC_000001.11:g.224191599_224191614del	NC_000001.11:g.224191601_224191614del	NC_000001.11:g.224191602_224191614del	NC_000001.11:g.224191605_224191614del	NC_000001.11:g.224191606_224191614del	NC_000001.11:g.224191607_224191614del	NC_000001.11:g.224191608_224191614del	NC_000001.11:g.224191609_224191614del	NC_000001.11:g.224191610_224191614del	NC_000001.11:g.224191611_224191614del	NC_000001.11:g.224191612_224191614del	NC_000001.11:g.224191613_224191614del	NC_000001.11:g.224191614del	NC_000001.11:g.224191614dup	NC_000001.11:g.224191613_224191614dup	NC_000001.11:g.224191612_224191614dup	NC_000001.11:g.224191611_224191614dup	NC_000001.11:g.224191610_224191614dup	NC_000001.11:g.224191609_224191614dup	NC_000001.11:g.224191608_224191614dup	NC_000001.11:g.224191607_224191614dup	NC_000001.11:g.224191604_224191614dup	NC_000001.11:g.224191614_224191615insTTTTTTTTTTTTTTTTTTTTTTTTTTT
GRCh37.p13 chr 1	NC_000001.10:g.224379293_224379316=	NC_000001.10:g.224379301_224379316del	NC_000001.10:g.224379303_224379316del	NC_000001.10:g.224379304_224379316del	NC_000001.10:g.224379307_224379316del	NC_000001.10:g.224379308_224379316del	NC_000001.10:g.224379309_224379316del	NC_000001.10:g.224379310_224379316del	NC_000001.10:g.224379311_224379316del	NC_000001.10:g.224379312_224379316del	NC_000001.10:g.224379313_224379316del	NC_000001.10:g.224379314_224379316del	NC_000001.10:g.224379315_224379316del	NC_000001.10:g.224379316del	NC_000001.10:g.224379316dup	NC_000001.10:g.224379315_224379316dup	NC_000001.10:g.224379314_224379316dup	NC_000001.10:g.224379313_224379316dup	NC_000001.10:g.224379312_224379316dup	NC_000001.10:g.224379311_224379316dup	NC_000001.10:g.224379310_224379316dup	NC_000001.10:g.224379309_224379316dup	NC_000001.10:g.224379306_224379316dup	NC_000001.10:g.224379316_224379317insTTTTTTTTTTTTTTTTTTTTTTTTTTT
DEGS1 transcript variant 2	NM_001321541.2:c.*23+435=	NM_001321541.2:c.23+443_23+458del	NM_001321541.2:c.23+445_23+458del	NM_001321541.2:c.23+446_23+458del	NM_001321541.2:c.23+449_23+458del	NM_001321541.2:c.23+450_23+458del	NM_001321541.2:c.23+451_23+458del	NM_001321541.2:c.23+452_23+458del	NM_001321541.2:c.23+453_23+458del	NM_001321541.2:c.23+454_23+458del	NM_001321541.2:c.23+455_23+458del	NM_001321541.2:c.23+456_23+458del	NM_001321541.2:c.23+457_23+458del	NM_001321541.2:c.*23+458del	NM_001321541.2:c.*23+458dup	NM_001321541.2:c.23+457_23+458dup	NM_001321541.2:c.23+456_23+458dup	NM_001321541.2:c.23+455_23+458dup	NM_001321541.2:c.23+454_23+458dup	NM_001321541.2:c.23+453_23+458dup	NM_001321541.2:c.23+452_23+458dup	NM_001321541.2:c.23+451_23+458dup	NM_001321541.2:c.23+448_23+458dup	NM_001321541.2:c.23+458_23+459insTTTTTTTTTTTTTTTTTTTTTTTTTTT
DEGS1 transcript variant 3	NM_001321542.2:c.718-741=	NM_001321542.2:c.718-733_718-718del	NM_001321542.2:c.718-731_718-718del	NM_001321542.2:c.718-730_718-718del	NM_001321542.2:c.718-727_718-718del	NM_001321542.2:c.718-726_718-718del	NM_001321542.2:c.718-725_718-718del	NM_001321542.2:c.718-724_718-718del	NM_001321542.2:c.718-723_718-718del	NM_001321542.2:c.718-722_718-718del	NM_001321542.2:c.718-721_718-718del	NM_001321542.2:c.718-720_718-718del	NM_001321542.2:c.718-719_718-718del	NM_001321542.2:c.718-718del	NM_001321542.2:c.718-718dup	NM_001321542.2:c.718-719_718-718dup	NM_001321542.2:c.718-720_718-718dup	NM_001321542.2:c.718-721_718-718dup	NM_001321542.2:c.718-722_718-718dup	NM_001321542.2:c.718-723_718-718dup	NM_001321542.2:c.718-724_718-718dup	NM_001321542.2:c.718-725_718-718dup	NM_001321542.2:c.718-728_718-718dup	NM_001321542.2:c.718-718_718-717insTTTTTTTTTTTTTTTTTTTTTTTTTTT
DEGS1 transcript variant 1	NM_003676.3:c.826-741=	NM_003676.3:c.826-733_826-718del	NM_003676.3:c.826-731_826-718del	NM_003676.3:c.826-730_826-718del	NM_003676.3:c.826-727_826-718del	NM_003676.3:c.826-726_826-718del	NM_003676.3:c.826-725_826-718del	NM_003676.3:c.826-724_826-718del	NM_003676.3:c.826-723_826-718del	NM_003676.3:c.826-722_826-718del	NM_003676.3:c.826-721_826-718del	NM_003676.3:c.826-720_826-718del	NM_003676.3:c.826-719_826-718del	NM_003676.3:c.826-718del	NM_003676.3:c.826-718dup	NM_003676.3:c.826-719_826-718dup	NM_003676.3:c.826-720_826-718dup	NM_003676.3:c.826-721_826-718dup	NM_003676.3:c.826-722_826-718dup	NM_003676.3:c.826-723_826-718dup	NM_003676.3:c.826-724_826-718dup	NM_003676.3:c.826-725_826-718dup	NM_003676.3:c.826-728_826-718dup	NM_003676.3:c.826-718_826-717insTTTTTTTTTTTTTTTTTTTTTTTTTTT
DEGS1 transcript variant 1	NM_003676.4:c.826-741=	NM_003676.4:c.826-733_826-718del	NM_003676.4:c.826-731_826-718del	NM_003676.4:c.826-730_826-718del	NM_003676.4:c.826-727_826-718del	NM_003676.4:c.826-726_826-718del	NM_003676.4:c.826-725_826-718del	NM_003676.4:c.826-724_826-718del	NM_003676.4:c.826-723_826-718del	NM_003676.4:c.826-722_826-718del	NM_003676.4:c.826-721_826-718del	NM_003676.4:c.826-720_826-718del	NM_003676.4:c.826-719_826-718del	NM_003676.4:c.826-718del	NM_003676.4:c.826-718dup	NM_003676.4:c.826-719_826-718dup	NM_003676.4:c.826-720_826-718dup	NM_003676.4:c.826-721_826-718dup	NM_003676.4:c.826-722_826-718dup	NM_003676.4:c.826-723_826-718dup	NM_003676.4:c.826-724_826-718dup	NM_003676.4:c.826-725_826-718dup	NM_003676.4:c.826-728_826-718dup	NM_003676.4:c.826-718_826-717insTTTTTTTTTTTTTTTTTTTTTTTTTTT
DEGS1 transcript variant X1	XM_017002648.3:c.718-741=	XM_017002648.3:c.718-733_718-718del	XM_017002648.3:c.718-731_718-718del	XM_017002648.3:c.718-730_718-718del	XM_017002648.3:c.718-727_718-718del	XM_017002648.3:c.718-726_718-718del	XM_017002648.3:c.718-725_718-718del	XM_017002648.3:c.718-724_718-718del	XM_017002648.3:c.718-723_718-718del	XM_017002648.3:c.718-722_718-718del	XM_017002648.3:c.718-721_718-718del	XM_017002648.3:c.718-720_718-718del	XM_017002648.3:c.718-719_718-718del	XM_017002648.3:c.718-718del	XM_017002648.3:c.718-718dup	XM_017002648.3:c.718-719_718-718dup	XM_017002648.3:c.718-720_718-718dup	XM_017002648.3:c.718-721_718-718dup	XM_017002648.3:c.718-722_718-718dup	XM_017002648.3:c.718-723_718-718dup	XM_017002648.3:c.718-724_718-718dup	XM_017002648.3:c.718-725_718-718dup	XM_017002648.3:c.718-728_718-718dup	XM_017002648.3:c.718-718_718-717insTTTTTTTTTTTTTTTTTTTTTTTTTTT

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#.

40 SubSNP, 30 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	EVA_GENOME_DK	ss1574100759	Apr 01, 2015 (144)
2	SWEGEN	ss2988535244	Nov 08, 2017 (151)
3	PACBIO	ss3789311613	Jul 12, 2019 (153)
4	PACBIO	ss3794184036	Jul 12, 2019 (153)
5	EVA	ss3826670462	Apr 25, 2020 (154)
6	GNOMAD	ss4012181527	Apr 25, 2021 (155)
7	GNOMAD	ss4012181528	Apr 25, 2021 (155)
8	GNOMAD	ss4012181529	Apr 25, 2021 (155)
9	GNOMAD	ss4012181530	Apr 25, 2021 (155)
10	GNOMAD	ss4012181531	Apr 25, 2021 (155)
11	GNOMAD	ss4012181532	Apr 25, 2021 (155)
12	GNOMAD	ss4012181533	Apr 25, 2021 (155)
13	GNOMAD	ss4012181534	Apr 25, 2021 (155)
14	GNOMAD	ss4012181537	Apr 25, 2021 (155)
15	GNOMAD	ss4012181538	Apr 25, 2021 (155)
16	GNOMAD	ss4012181539	Apr 25, 2021 (155)
17	GNOMAD	ss4012181540	Apr 25, 2021 (155)
18	GNOMAD	ss4012181541	Apr 25, 2021 (155)
19	GNOMAD	ss4012181542	Apr 25, 2021 (155)
20	GNOMAD	ss4012181543	Apr 25, 2021 (155)
21	GNOMAD	ss4012181544	Apr 25, 2021 (155)
22	TOMMO_GENOMICS	ss5148663361	Apr 25, 2021 (155)
23	TOMMO_GENOMICS	ss5148663362	Apr 25, 2021 (155)
24	TOMMO_GENOMICS	ss5148663363	Apr 25, 2021 (155)
25	TOMMO_GENOMICS	ss5148663364	Apr 25, 2021 (155)
26	TOMMO_GENOMICS	ss5148663365	Apr 25, 2021 (155)
27	TOMMO_GENOMICS	ss5148663366	Apr 25, 2021 (155)
28	1000G_HIGH_COVERAGE	ss5245973732	Oct 12, 2022 (156)
29	1000G_HIGH_COVERAGE	ss5245973733	Oct 12, 2022 (156)
30	1000G_HIGH_COVERAGE	ss5245973734	Oct 12, 2022 (156)
31	HUGCELL_USP	ss5446391298	Oct 12, 2022 (156)
32	HUGCELL_USP	ss5446391299	Oct 12, 2022 (156)
33	HUGCELL_USP	ss5446391300	Oct 12, 2022 (156)
34	TOMMO_GENOMICS	ss5676488488	Oct 12, 2022 (156)
35	TOMMO_GENOMICS	ss5676488489	Oct 12, 2022 (156)
36	TOMMO_GENOMICS	ss5676488490	Oct 12, 2022 (156)
37	TOMMO_GENOMICS	ss5676488491	Oct 12, 2022 (156)
38	TOMMO_GENOMICS	ss5676488492	Oct 12, 2022 (156)
39	TOMMO_GENOMICS	ss5676488493	Oct 12, 2022 (156)
40	EVA	ss5912177542	Oct 12, 2022 (156)
41	The Danish reference pan genome	NC_000001.10 - 224379293	Apr 25, 2020 (154)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 41047913 (NC_000001.11:224191590::TTT 358/51128) Row 41047914 (NC_000001.11:224191590::TTTT 254/51112) Row 41047915 (NC_000001.11:224191590::TTTTT 28/51100)...	-	Apr 25, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 41047913 (NC_000001.11:224191590::TTT 358/51128) Row 41047914 (NC_000001.11:224191590::TTTT 254/51112) Row 41047915 (NC_000001.11:224191590::TTTTT 28/51100)...	-	Apr 25, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 41047913 (NC_000001.11:224191590::TTT 358/51128) Row 41047914 (NC_000001.11:224191590::TTTT 254/51112) Row 41047915 (NC_000001.11:224191590::TTTTT 28/51100)...	-	Apr 25, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 41047913 (NC_000001.11:224191590::TTT 358/51128) Row 41047914 (NC_000001.11:224191590::TTTT 254/51112) Row 41047915 (NC_000001.11:224191590::TTTTT 28/51100)...	-	Apr 25, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 41047913 (NC_000001.11:224191590::TTT 358/51128) Row 41047914 (NC_000001.11:224191590::TTTT 254/51112) Row 41047915 (NC_000001.11:224191590::TTTTT 28/51100)...	-	Apr 25, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 41047913 (NC_000001.11:224191590::TTT 358/51128) Row 41047914 (NC_000001.11:224191590::TTTT 254/51112) Row 41047915 (NC_000001.11:224191590::TTTTT 28/51100)...	-	Apr 25, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 41047913 (NC_000001.11:224191590::TTT 358/51128) Row 41047914 (NC_000001.11:224191590::TTTT 254/51112) Row 41047915 (NC_000001.11:224191590::TTTTT 28/51100)...	-	Apr 25, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 41047913 (NC_000001.11:224191590::TTT 358/51128) Row 41047914 (NC_000001.11:224191590::TTTT 254/51112) Row 41047915 (NC_000001.11:224191590::TTTTT 28/51100)...	-	Apr 25, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 41047913 (NC_000001.11:224191590::TTT 358/51128) Row 41047914 (NC_000001.11:224191590::TTTT 254/51112) Row 41047915 (NC_000001.11:224191590::TTTTT 28/51100)...	-	Apr 25, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 41047913 (NC_000001.11:224191590::TTT 358/51128) Row 41047914 (NC_000001.11:224191590::TTTT 254/51112) Row 41047915 (NC_000001.11:224191590::TTTTT 28/51100)...	-	Apr 25, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 41047913 (NC_000001.11:224191590::TTT 358/51128) Row 41047914 (NC_000001.11:224191590::TTTT 254/51112) Row 41047915 (NC_000001.11:224191590::TTTTT 28/51100)...	-	Apr 25, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 41047913 (NC_000001.11:224191590::TTT 358/51128) Row 41047914 (NC_000001.11:224191590::TTTT 254/51112) Row 41047915 (NC_000001.11:224191590::TTTTT 28/51100)...	-	Apr 25, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 41047913 (NC_000001.11:224191590::TTT 358/51128) Row 41047914 (NC_000001.11:224191590::TTTT 254/51112) Row 41047915 (NC_000001.11:224191590::TTTTT 28/51100)...	-	Apr 25, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 41047913 (NC_000001.11:224191590::TTT 358/51128) Row 41047914 (NC_000001.11:224191590::TTTT 254/51112) Row 41047915 (NC_000001.11:224191590::TTTTT 28/51100)...	-	Apr 25, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 41047913 (NC_000001.11:224191590::TTT 358/51128) Row 41047914 (NC_000001.11:224191590::TTTT 254/51112) Row 41047915 (NC_000001.11:224191590::TTTTT 28/51100)...	-	Apr 25, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 41047913 (NC_000001.11:224191590::TTT 358/51128) Row 41047914 (NC_000001.11:224191590::TTTT 254/51112) Row 41047915 (NC_000001.11:224191590::TTTTT 28/51100)...	-	Apr 25, 2021 (155)
58	8.3KJPN Submission ignored due to conflicting rows: Row 6632668 (NC_000001.10:224379292::TT 2135/15962) Row 6632669 (NC_000001.10:224379292:T: 5307/15962) Row 6632670 (NC_000001.10:224379292:TT: 566/15962)...	-	Apr 25, 2021 (155)
59	8.3KJPN Submission ignored due to conflicting rows: Row 6632668 (NC_000001.10:224379292::TT 2135/15962) Row 6632669 (NC_000001.10:224379292:T: 5307/15962) Row 6632670 (NC_000001.10:224379292:TT: 566/15962)...	-	Apr 25, 2021 (155)
60	8.3KJPN Submission ignored due to conflicting rows: Row 6632668 (NC_000001.10:224379292::TT 2135/15962) Row 6632669 (NC_000001.10:224379292:T: 5307/15962) Row 6632670 (NC_000001.10:224379292:TT: 566/15962)...	-	Apr 25, 2021 (155)
61	8.3KJPN Submission ignored due to conflicting rows: Row 6632668 (NC_000001.10:224379292::TT 2135/15962) Row 6632669 (NC_000001.10:224379292:T: 5307/15962) Row 6632670 (NC_000001.10:224379292:TT: 566/15962)...	-	Apr 25, 2021 (155)
62	8.3KJPN Submission ignored due to conflicting rows: Row 6632668 (NC_000001.10:224379292::TT 2135/15962) Row 6632669 (NC_000001.10:224379292:T: 5307/15962) Row 6632670 (NC_000001.10:224379292:TT: 566/15962)...	-	Apr 25, 2021 (155)
63	8.3KJPN Submission ignored due to conflicting rows: Row 6632668 (NC_000001.10:224379292::TT 2135/15962) Row 6632669 (NC_000001.10:224379292:T: 5307/15962) Row 6632670 (NC_000001.10:224379292:TT: 566/15962)...	-	Apr 25, 2021 (155)
64	14KJPN Submission ignored due to conflicting rows: Row 10325592 (NC_000001.11:224191590:T: 12431/27622) Row 10325593 (NC_000001.11:224191590::TT 4248/27622) Row 10325594 (NC_000001.11:224191590:TT: 1211/27622)...	-	Oct 12, 2022 (156)
65	14KJPN Submission ignored due to conflicting rows: Row 10325592 (NC_000001.11:224191590:T: 12431/27622) Row 10325593 (NC_000001.11:224191590::TT 4248/27622) Row 10325594 (NC_000001.11:224191590:TT: 1211/27622)...	-	Oct 12, 2022 (156)
66	14KJPN Submission ignored due to conflicting rows: Row 10325592 (NC_000001.11:224191590:T: 12431/27622) Row 10325593 (NC_000001.11:224191590::TT 4248/27622) Row 10325594 (NC_000001.11:224191590:TT: 1211/27622)...	-	Oct 12, 2022 (156)
67	14KJPN Submission ignored due to conflicting rows: Row 10325592 (NC_000001.11:224191590:T: 12431/27622) Row 10325593 (NC_000001.11:224191590::TT 4248/27622) Row 10325594 (NC_000001.11:224191590:TT: 1211/27622)...	-	Oct 12, 2022 (156)
68	14KJPN Submission ignored due to conflicting rows: Row 10325592 (NC_000001.11:224191590:T: 12431/27622) Row 10325593 (NC_000001.11:224191590::TT 4248/27622) Row 10325594 (NC_000001.11:224191590:TT: 1211/27622)...	-	Oct 12, 2022 (156)
69	14KJPN Submission ignored due to conflicting rows: Row 10325592 (NC_000001.11:224191590:T: 12431/27622) Row 10325593 (NC_000001.11:224191590::TT 4248/27622) Row 10325594 (NC_000001.11:224191590:TT: 1211/27622)...	-	Oct 12, 2022 (156)
70	ALFA	NC_000001.11 - 224191591	Apr 25, 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
ss4012181544	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTT:	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT	(self)
ss4012181543	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTT:	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
628008487	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT	(self)
ss4012181542	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTT:	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
628008487	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT	(self)
ss4012181541	NC_000001.11:224191590:TTTTTTTTTT:	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
628008487	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT	(self)
628008487	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT	(self)
ss4012181540	NC_000001.11:224191590:TTTTTTTT:	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
628008487	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT	(self)
628008487	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT	(self)
ss4012181539	NC_000001.11:224191590:TTTTTT:	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
628008487	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT	(self)
ss4012181538, ss5676488491	NC_000001.11:224191590:TTTTT:	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
628008487	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT	(self)
628008487	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT	(self)
ss4012181537, ss5912177542	NC_000001.11:224191590:TTT:	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
628008487	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT	(self)
ss2988535244, ss5148663363	NC_000001.10:224379292:TT:	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
ss5245973734, ss5446391299, ss5676488490	NC_000001.11:224191590:TT:	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
628008487	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT	(self)
203117, ss1574100759, ss3789311613, ss3794184036, ss3826670462, ss5148663362	NC_000001.10:224379292:T:	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss5446391298, ss5676488488	NC_000001.11:224191590:T:	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
628008487	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT	(self)
ss5148663364	NC_000001.10:224379292::T	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss5446391300	NC_000001.11:224191590::T	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
628008487	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss5148663361	NC_000001.10:224379292::TT	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss5676488489	NC_000001.11:224191590::TT	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
628008487	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss5148663365	NC_000001.10:224379292::TTT	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4012181527, ss5676488492	NC_000001.11:224191590::TTT	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
628008487	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss5148663366	NC_000001.10:224379292::TTTT	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4012181528, ss5245973732, ss5676488493	NC_000001.11:224191590::TTTT	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
628008487	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4012181529, ss5245973733	NC_000001.11:224191590::TTTTT	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
628008487	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4012181530	NC_000001.11:224191590::TTTTTT	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4012181531	NC_000001.11:224191590::TTTTTTT	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4012181532	NC_000001.11:224191590::TTTTTTTT	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4012181533	NC_000001.11:224191590::TTTTTTTTTTT	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)
ss4012181534	NC_000001.11:224191590::TTTTTTTTTT… NC_000001.11:224191590::TTTTTTTTTTTTTTTTTTTTTTTTTTT	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3104721074	NC_000001.11:224191590:TTTT:	NC_000001.11:224191590:TTTTTTTTTTT… NC_000001.11:224191590:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT

Publications tab displays PubMed articles citing the variation as a listing of PMID, Title, Author, Year, Journal, ordered by Year, descending.

No publications for rs748181749

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

rs748181749