Name: rs56129490
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.

rs56129490

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr19:49918896-49918908 (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(G)₄ / delGGG / delGG / delG / …
del(G)₄ / delGGG / delGG / delG / dupG / dupGG / dupGGG / dup(G)₄ / dup(G)₅ / dup(G)₆ / dup(G)₇ / dup(G)₈ / dup(G)₉ / dup(G)₁₀ / dup(G)₁₁ / dup(G)₁₂ / dup(G)₁₃ / ins(G)₁₄ / ins(G)₁₅ / ins(G)₁₆ / ins(G)₁₇ / ins(G)₁₈ / ins(G)₂₀ / ins(G)₂₂
Variation Type: Indel Insertion and Deletion
Frequency: del(G)₄=0.000 (0/624, ALFA)
delGGG=0.000 (0/624, ALFA)
delGG=0.000 (0/624, ALFA) (+ 6 more)
delG=0.000 (0/624, ALFA)
dupG=0.000 (0/624, ALFA)
dupGG=0.000 (0/624, ALFA)
dupGGG=0.000 (0/624, ALFA)
dup(G)₄=0.000 (0/624, ALFA)
(G)₁₃=0.00 (0/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: IL4I1 : Intron Variant
NUP62 : 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	624	GGGGGGGGGGGGG=1.000	GGGGGGGGG=0.000, GGGGGGGGGG=0.000, GGGGGGGGGGG=0.000, GGGGGGGGGGGG=0.000, GGGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGGGGG=0.000	1.0	0.0	0.0	N/A
European	Sub	334	GGGGGGGGGGGGG=1.000	GGGGGGGGG=0.000, GGGGGGGGGG=0.000, GGGGGGGGGGG=0.000, GGGGGGGGGGGG=0.000, GGGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGGGGG=0.000	1.0	0.0	0.0	N/A
African	Sub	224	GGGGGGGGGGGGG=1.000	GGGGGGGGG=0.000, GGGGGGGGGG=0.000, GGGGGGGGGGG=0.000, GGGGGGGGGGGG=0.000, GGGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGGGGG=0.000	1.0	0.0	0.0	N/A
African Others	Sub	4	GGGGGGGGGGGGG=1.0	GGGGGGGGG=0.0, GGGGGGGGGG=0.0, GGGGGGGGGGG=0.0, GGGGGGGGGGGG=0.0, GGGGGGGGGGGGGG=0.0, GGGGGGGGGGGGGGG=0.0, GGGGGGGGGGGGGGGG=0.0, GGGGGGGGGGGGGGGGG=0.0	1.0	0.0	0.0	N/A
African American	Sub	220	GGGGGGGGGGGGG=1.000	GGGGGGGGG=0.000, GGGGGGGGGG=0.000, GGGGGGGGGGG=0.000, GGGGGGGGGGGG=0.000, GGGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGGGG=0.000, GGGGGGGGGGGGGGGGG=0.000	1.0	0.0	0.0	N/A
Asian	Sub	4	GGGGGGGGGGGGG=1.0	GGGGGGGGG=0.0, GGGGGGGGGG=0.0, GGGGGGGGGGG=0.0, GGGGGGGGGGGG=0.0, GGGGGGGGGGGGGG=0.0, GGGGGGGGGGGGGGG=0.0, GGGGGGGGGGGGGGGG=0.0, GGGGGGGGGGGGGGGGG=0.0	1.0	0.0	0.0	N/A
East Asian	Sub	4	GGGGGGGGGGGGG=1.0	GGGGGGGGG=0.0, GGGGGGGGGG=0.0, GGGGGGGGGGG=0.0, GGGGGGGGGGGG=0.0, GGGGGGGGGGGGGG=0.0, GGGGGGGGGGGGGGG=0.0, GGGGGGGGGGGGGGGG=0.0, GGGGGGGGGGGGGGGGG=0.0	1.0	0.0	0.0	N/A
Other Asian	Sub	0	GGGGGGGGGGGGG=0	GGGGGGGGG=0, GGGGGGGGGG=0, GGGGGGGGGGG=0, GGGGGGGGGGGG=0, GGGGGGGGGGGGGG=0, GGGGGGGGGGGGGGG=0, GGGGGGGGGGGGGGGG=0, GGGGGGGGGGGGGGGGG=0	0	0	0	N/A
Latin American 1	Sub	2	GGGGGGGGGGGGG=1.0	GGGGGGGGG=0.0, GGGGGGGGGG=0.0, GGGGGGGGGGG=0.0, GGGGGGGGGGGG=0.0, GGGGGGGGGGGGGG=0.0, GGGGGGGGGGGGGGG=0.0, GGGGGGGGGGGGGGGG=0.0, GGGGGGGGGGGGGGGGG=0.0	1.0	0.0	0.0	N/A
Latin American 2	Sub	24	GGGGGGGGGGGGG=1.00	GGGGGGGGG=0.00, GGGGGGGGGG=0.00, GGGGGGGGGGG=0.00, GGGGGGGGGGGG=0.00, GGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGGG=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	12	GGGGGGGGGGGGG=1.00	GGGGGGGGG=0.00, GGGGGGGGGG=0.00, GGGGGGGGGGG=0.00, GGGGGGGGGGGG=0.00, GGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGGG=0.00	1.0	0.0	0.0	N/A
Other	Sub	24	GGGGGGGGGGGGG=1.00	GGGGGGGGG=0.00, GGGGGGGGGG=0.00, GGGGGGGGGGG=0.00, GGGGGGGGGGGG=0.00, GGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGG=0.00, GGGGGGGGGGGGGGGGG=0.00	1.0	0.0	0.0	N/A

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

Download

Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	624	(G)₁₃=1.000	del(G)₄=0.000, delGGG=0.000, delGG=0.000, delG=0.000, dupG=0.000, dupGG=0.000, dupGGG=0.000, dup(G)₄=0.000
Allele Frequency Aggregator	European	Sub	334	(G)₁₃=1.000	del(G)₄=0.000, delGGG=0.000, delGG=0.000, delG=0.000, dupG=0.000, dupGG=0.000, dupGGG=0.000, dup(G)₄=0.000
Allele Frequency Aggregator	African	Sub	224	(G)₁₃=1.000	del(G)₄=0.000, delGGG=0.000, delGG=0.000, delG=0.000, dupG=0.000, dupGG=0.000, dupGGG=0.000, dup(G)₄=0.000
Allele Frequency Aggregator	Latin American 2	Sub	24	(G)₁₃=1.00	del(G)₄=0.00, delGGG=0.00, delGG=0.00, delG=0.00, dupG=0.00, dupGG=0.00, dupGGG=0.00, dup(G)₄=0.00
Allele Frequency Aggregator	Other	Sub	24	(G)₁₃=1.00	del(G)₄=0.00, delGGG=0.00, delGG=0.00, delG=0.00, dupG=0.00, dupGG=0.00, dupGGG=0.00, dup(G)₄=0.00
Allele Frequency Aggregator	South Asian	Sub	12	(G)₁₃=1.00	del(G)₄=0.00, delGGG=0.00, delGG=0.00, delG=0.00, dupG=0.00, dupGG=0.00, dupGGG=0.00, dup(G)₄=0.00
Allele Frequency Aggregator	Asian	Sub	4	(G)₁₃=1.0	del(G)₄=0.0, delGGG=0.0, delGG=0.0, delG=0.0, dupG=0.0, dupGG=0.0, dupGGG=0.0, dup(G)₄=0.0
Allele Frequency Aggregator	Latin American 1	Sub	2	(G)₁₃=1.0	del(G)₄=0.0, delGGG=0.0, delGG=0.0, delG=0.0, dupG=0.0, dupGG=0.0, dupGGG=0.0, dup(G)₄=0.0
The Danish reference pan genome	Danish	Study-wide	40	(G)₁₃=0.00	delGGG=1.00

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 19	NC_000019.10:g.49918905_49918908del
GRCh38.p14 chr 19	NC_000019.10:g.49918906_49918908del
GRCh38.p14 chr 19	NC_000019.10:g.49918907_49918908del
GRCh38.p14 chr 19	NC_000019.10:g.49918908del
GRCh38.p14 chr 19	NC_000019.10:g.49918908dup
GRCh38.p14 chr 19	NC_000019.10:g.49918907_49918908dup
GRCh38.p14 chr 19	NC_000019.10:g.49918906_49918908dup
GRCh38.p14 chr 19	NC_000019.10:g.49918905_49918908dup
GRCh38.p14 chr 19	NC_000019.10:g.49918904_49918908dup
GRCh38.p14 chr 19	NC_000019.10:g.49918903_49918908dup
GRCh38.p14 chr 19	NC_000019.10:g.49918902_49918908dup
GRCh38.p14 chr 19	NC_000019.10:g.49918901_49918908dup
GRCh38.p14 chr 19	NC_000019.10:g.49918900_49918908dup
GRCh38.p14 chr 19	NC_000019.10:g.49918899_49918908dup
GRCh38.p14 chr 19	NC_000019.10:g.49918898_49918908dup
GRCh38.p14 chr 19	NC_000019.10:g.49918897_49918908dup
GRCh38.p14 chr 19	NC_000019.10:g.49918896_49918908dup
GRCh38.p14 chr 19	NC_000019.10:g.49918908_49918909insGGGGGGGGGGGGGG
GRCh38.p14 chr 19	NC_000019.10:g.49918908_49918909insGGGGGGGGGGGGGGG
GRCh38.p14 chr 19	NC_000019.10:g.49918908_49918909insGGGGGGGGGGGGGGGG
GRCh38.p14 chr 19	NC_000019.10:g.49918908_49918909insGGGGGGGGGGGGGGGGG
GRCh38.p14 chr 19	NC_000019.10:g.49918908_49918909insGGGGGGGGGGGGGGGGGG
GRCh38.p14 chr 19	NC_000019.10:g.49918908_49918909insGGGGGGGGGGGGGGGGGGGG
GRCh38.p14 chr 19	NC_000019.10:g.49918908_49918909insGGGGGGGGGGGGGGGGGGGGGG
GRCh37.p13 chr 19	NC_000019.9:g.50422162_50422165del
GRCh37.p13 chr 19	NC_000019.9:g.50422163_50422165del
GRCh37.p13 chr 19	NC_000019.9:g.50422164_50422165del
GRCh37.p13 chr 19	NC_000019.9:g.50422165del
GRCh37.p13 chr 19	NC_000019.9:g.50422165dup
GRCh37.p13 chr 19	NC_000019.9:g.50422164_50422165dup
GRCh37.p13 chr 19	NC_000019.9:g.50422163_50422165dup
GRCh37.p13 chr 19	NC_000019.9:g.50422162_50422165dup
GRCh37.p13 chr 19	NC_000019.9:g.50422161_50422165dup
GRCh37.p13 chr 19	NC_000019.9:g.50422160_50422165dup
GRCh37.p13 chr 19	NC_000019.9:g.50422159_50422165dup
GRCh37.p13 chr 19	NC_000019.9:g.50422158_50422165dup
GRCh37.p13 chr 19	NC_000019.9:g.50422157_50422165dup
GRCh37.p13 chr 19	NC_000019.9:g.50422156_50422165dup
GRCh37.p13 chr 19	NC_000019.9:g.50422155_50422165dup
GRCh37.p13 chr 19	NC_000019.9:g.50422154_50422165dup
GRCh37.p13 chr 19	NC_000019.9:g.50422153_50422165dup
GRCh37.p13 chr 19	NC_000019.9:g.50422165_50422166insGGGGGGGGGGGGGG
GRCh37.p13 chr 19	NC_000019.9:g.50422165_50422166insGGGGGGGGGGGGGGG
GRCh37.p13 chr 19	NC_000019.9:g.50422165_50422166insGGGGGGGGGGGGGGGG
GRCh37.p13 chr 19	NC_000019.9:g.50422165_50422166insGGGGGGGGGGGGGGGGG
GRCh37.p13 chr 19	NC_000019.9:g.50422165_50422166insGGGGGGGGGGGGGGGGGG
GRCh37.p13 chr 19	NC_000019.9:g.50422165_50422166insGGGGGGGGGGGGGGGGGGGG
GRCh37.p13 chr 19	NC_000019.9:g.50422165_50422166insGGGGGGGGGGGGGGGGGGGGGG
IL4I1 RefSeqGene	NG_021170.1:g.15607_15610del
IL4I1 RefSeqGene	NG_021170.1:g.15608_15610del
IL4I1 RefSeqGene	NG_021170.1:g.15609_15610del
IL4I1 RefSeqGene	NG_021170.1:g.15610del
IL4I1 RefSeqGene	NG_021170.1:g.15610dup
IL4I1 RefSeqGene	NG_021170.1:g.15609_15610dup
IL4I1 RefSeqGene	NG_021170.1:g.15608_15610dup
IL4I1 RefSeqGene	NG_021170.1:g.15607_15610dup
IL4I1 RefSeqGene	NG_021170.1:g.15606_15610dup
IL4I1 RefSeqGene	NG_021170.1:g.15605_15610dup
IL4I1 RefSeqGene	NG_021170.1:g.15604_15610dup
IL4I1 RefSeqGene	NG_021170.1:g.15603_15610dup
IL4I1 RefSeqGene	NG_021170.1:g.15602_15610dup
IL4I1 RefSeqGene	NG_021170.1:g.15601_15610dup
IL4I1 RefSeqGene	NG_021170.1:g.15600_15610dup
IL4I1 RefSeqGene	NG_021170.1:g.15599_15610dup
IL4I1 RefSeqGene	NG_021170.1:g.15598_15610dup
IL4I1 RefSeqGene	NG_021170.1:g.15610_15611insCCCCCCCCCCCCCC
IL4I1 RefSeqGene	NG_021170.1:g.15610_15611insCCCCCCCCCCCCCCC
IL4I1 RefSeqGene	NG_021170.1:g.15610_15611insCCCCCCCCCCCCCCCC
IL4I1 RefSeqGene	NG_021170.1:g.15610_15611insCCCCCCCCCCCCCCCCC
IL4I1 RefSeqGene	NG_021170.1:g.15610_15611insCCCCCCCCCCCCCCCCCC
IL4I1 RefSeqGene	NG_021170.1:g.15610_15611insCCCCCCCCCCCCCCCCCCCC
IL4I1 RefSeqGene	NG_021170.1:g.15610_15611insCCCCCCCCCCCCCCCCCCCCCC
NUP62 RefSeqGene	NG_023448.1:g.15833_15836del
NUP62 RefSeqGene	NG_023448.1:g.15834_15836del
NUP62 RefSeqGene	NG_023448.1:g.15835_15836del
NUP62 RefSeqGene	NG_023448.1:g.15836del
NUP62 RefSeqGene	NG_023448.1:g.15836dup
NUP62 RefSeqGene	NG_023448.1:g.15835_15836dup
NUP62 RefSeqGene	NG_023448.1:g.15834_15836dup
NUP62 RefSeqGene	NG_023448.1:g.15833_15836dup
NUP62 RefSeqGene	NG_023448.1:g.15832_15836dup
NUP62 RefSeqGene	NG_023448.1:g.15831_15836dup
NUP62 RefSeqGene	NG_023448.1:g.15830_15836dup
NUP62 RefSeqGene	NG_023448.1:g.15829_15836dup
NUP62 RefSeqGene	NG_023448.1:g.15828_15836dup
NUP62 RefSeqGene	NG_023448.1:g.15827_15836dup
NUP62 RefSeqGene	NG_023448.1:g.15826_15836dup
NUP62 RefSeqGene	NG_023448.1:g.15825_15836dup
NUP62 RefSeqGene	NG_023448.1:g.15824_15836dup
NUP62 RefSeqGene	NG_023448.1:g.15836_15837insCCCCCCCCCCCCCC
NUP62 RefSeqGene	NG_023448.1:g.15836_15837insCCCCCCCCCCCCCCC
NUP62 RefSeqGene	NG_023448.1:g.15836_15837insCCCCCCCCCCCCCCCC
NUP62 RefSeqGene	NG_023448.1:g.15836_15837insCCCCCCCCCCCCCCCCC
NUP62 RefSeqGene	NG_023448.1:g.15836_15837insCCCCCCCCCCCCCCCCCC
NUP62 RefSeqGene	NG_023448.1:g.15836_15837insCCCCCCCCCCCCCCCCCCCC
NUP62 RefSeqGene	NG_023448.1:g.15836_15837insCCCCCCCCCCCCCCCCCCCCCC

Gene: NUP62, nucleoporin 62 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
NUP62 transcript variant 5	NM_001193357.2:c.-77-9015… NM_001193357.2:c.-77-9015_-77-9012del	N/A	Intron Variant
NUP62 transcript variant 4	NM_012346.5:c.-77-9015_-7… NM_012346.5:c.-77-9015_-77-9012del	N/A	Intron Variant
NUP62 transcript variant 2	NM_016553.5:c.-78+8795_-7… NM_016553.5:c.-78+8795_-78+8798del	N/A	Intron Variant
NUP62 transcript variant 3	NM_153718.4:c.-77-9015_-7… NM_153718.4:c.-77-9015_-77-9012del	N/A	Intron Variant
NUP62 transcript variant 1	NM_153719.4:c.-78+8795_-7… NM_153719.4:c.-78+8795_-78+8798del	N/A	Intron Variant

Gene: IL4I1, interleukin 4 induced 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
IL4I1 transcript variant 3	NM_001258017.2:c.-228+879… NM_001258017.2:c.-228+8795_-228+8798del	N/A	Intron Variant
IL4I1 transcript variant 4	NM_001258018.2:c.-286+879… NM_001258018.2:c.-286+8795_-286+8798del	N/A	Intron Variant
IL4I1 transcript variant 2	NM_172374.3:c.-228+8795_-… NM_172374.3:c.-228+8795_-228+8798del	N/A	Intron Variant
IL4I1 transcript variant 6	NM_001385639.1:c.	N/A	Genic Upstream Transcript Variant
IL4I1 transcript variant 1	NM_152899.2:c.	N/A	Genic Upstream Transcript Variant
IL4I1 transcript variant 5	NR_047577.2: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	(G)₁₃=	del(G)₄	delGGG	delGG	delG	dupG	dupGG	dupGGG	dup(G)₄	dup(G)₅	dup(G)₆	dup(G)₇	dup(G)₈	dup(G)₉	dup(G)₁₀	dup(G)₁₁	dup(G)₁₂	dup(G)₁₃	ins(G)₁₄	ins(G)₁₅	ins(G)₁₆	ins(G)₁₇	ins(G)₁₈	ins(G)₂₀	ins(G)₂₂
GRCh38.p14 chr 19	NC_000019.10:g.49918896_49918908=	NC_000019.10:g.49918905_49918908del	NC_000019.10:g.49918906_49918908del	NC_000019.10:g.49918907_49918908del	NC_000019.10:g.49918908del	NC_000019.10:g.49918908dup	NC_000019.10:g.49918907_49918908dup	NC_000019.10:g.49918906_49918908dup	NC_000019.10:g.49918905_49918908dup	NC_000019.10:g.49918904_49918908dup	NC_000019.10:g.49918903_49918908dup	NC_000019.10:g.49918902_49918908dup	NC_000019.10:g.49918901_49918908dup	NC_000019.10:g.49918900_49918908dup	NC_000019.10:g.49918899_49918908dup	NC_000019.10:g.49918898_49918908dup	NC_000019.10:g.49918897_49918908dup	NC_000019.10:g.49918896_49918908dup	NC_000019.10:g.49918908_49918909insGGGGGGGGGGGGGG	NC_000019.10:g.49918908_49918909insGGGGGGGGGGGGGGG	NC_000019.10:g.49918908_49918909insGGGGGGGGGGGGGGGG	NC_000019.10:g.49918908_49918909insGGGGGGGGGGGGGGGGG	NC_000019.10:g.49918908_49918909insGGGGGGGGGGGGGGGGGG	NC_000019.10:g.49918908_49918909insGGGGGGGGGGGGGGGGGGGG	NC_000019.10:g.49918908_49918909insGGGGGGGGGGGGGGGGGGGGGG
GRCh37.p13 chr 19	NC_000019.9:g.50422153_50422165=	NC_000019.9:g.50422162_50422165del	NC_000019.9:g.50422163_50422165del	NC_000019.9:g.50422164_50422165del	NC_000019.9:g.50422165del	NC_000019.9:g.50422165dup	NC_000019.9:g.50422164_50422165dup	NC_000019.9:g.50422163_50422165dup	NC_000019.9:g.50422162_50422165dup	NC_000019.9:g.50422161_50422165dup	NC_000019.9:g.50422160_50422165dup	NC_000019.9:g.50422159_50422165dup	NC_000019.9:g.50422158_50422165dup	NC_000019.9:g.50422157_50422165dup	NC_000019.9:g.50422156_50422165dup	NC_000019.9:g.50422155_50422165dup	NC_000019.9:g.50422154_50422165dup	NC_000019.9:g.50422153_50422165dup	NC_000019.9:g.50422165_50422166insGGGGGGGGGGGGGG	NC_000019.9:g.50422165_50422166insGGGGGGGGGGGGGGG	NC_000019.9:g.50422165_50422166insGGGGGGGGGGGGGGGG	NC_000019.9:g.50422165_50422166insGGGGGGGGGGGGGGGGG	NC_000019.9:g.50422165_50422166insGGGGGGGGGGGGGGGGGG	NC_000019.9:g.50422165_50422166insGGGGGGGGGGGGGGGGGGGG	NC_000019.9:g.50422165_50422166insGGGGGGGGGGGGGGGGGGGGGG
IL4I1 RefSeqGene	NG_021170.1:g.15598_15610=	NG_021170.1:g.15607_15610del	NG_021170.1:g.15608_15610del	NG_021170.1:g.15609_15610del	NG_021170.1:g.15610del	NG_021170.1:g.15610dup	NG_021170.1:g.15609_15610dup	NG_021170.1:g.15608_15610dup	NG_021170.1:g.15607_15610dup	NG_021170.1:g.15606_15610dup	NG_021170.1:g.15605_15610dup	NG_021170.1:g.15604_15610dup	NG_021170.1:g.15603_15610dup	NG_021170.1:g.15602_15610dup	NG_021170.1:g.15601_15610dup	NG_021170.1:g.15600_15610dup	NG_021170.1:g.15599_15610dup	NG_021170.1:g.15598_15610dup	NG_021170.1:g.15610_15611insCCCCCCCCCCCCCC	NG_021170.1:g.15610_15611insCCCCCCCCCCCCCCC	NG_021170.1:g.15610_15611insCCCCCCCCCCCCCCCC	NG_021170.1:g.15610_15611insCCCCCCCCCCCCCCCCC	NG_021170.1:g.15610_15611insCCCCCCCCCCCCCCCCCC	NG_021170.1:g.15610_15611insCCCCCCCCCCCCCCCCCCCC	NG_021170.1:g.15610_15611insCCCCCCCCCCCCCCCCCCCCCC
NUP62 RefSeqGene	NG_023448.1:g.15824_15836=	NG_023448.1:g.15833_15836del	NG_023448.1:g.15834_15836del	NG_023448.1:g.15835_15836del	NG_023448.1:g.15836del	NG_023448.1:g.15836dup	NG_023448.1:g.15835_15836dup	NG_023448.1:g.15834_15836dup	NG_023448.1:g.15833_15836dup	NG_023448.1:g.15832_15836dup	NG_023448.1:g.15831_15836dup	NG_023448.1:g.15830_15836dup	NG_023448.1:g.15829_15836dup	NG_023448.1:g.15828_15836dup	NG_023448.1:g.15827_15836dup	NG_023448.1:g.15826_15836dup	NG_023448.1:g.15825_15836dup	NG_023448.1:g.15824_15836dup	NG_023448.1:g.15836_15837insCCCCCCCCCCCCCC	NG_023448.1:g.15836_15837insCCCCCCCCCCCCCCC	NG_023448.1:g.15836_15837insCCCCCCCCCCCCCCCC	NG_023448.1:g.15836_15837insCCCCCCCCCCCCCCCCC	NG_023448.1:g.15836_15837insCCCCCCCCCCCCCCCCCC	NG_023448.1:g.15836_15837insCCCCCCCCCCCCCCCCCCCC	NG_023448.1:g.15836_15837insCCCCCCCCCCCCCCCCCCCCCC
NUP62 transcript variant 5	NM_001193357.1:c.-77-9012=	NM_001193357.1:c.-77-9015_-77-9012del	NM_001193357.1:c.-77-9014_-77-9012del	NM_001193357.1:c.-77-9013_-77-9012del	NM_001193357.1:c.-77-9012del	NM_001193357.1:c.-77-9012dup	NM_001193357.1:c.-77-9013_-77-9012dup	NM_001193357.1:c.-77-9014_-77-9012dup	NM_001193357.1:c.-77-9015_-77-9012dup	NM_001193357.1:c.-77-9016_-77-9012dup	NM_001193357.1:c.-77-9017_-77-9012dup	NM_001193357.1:c.-77-9018_-77-9012dup	NM_001193357.1:c.-77-9019_-77-9012dup	NM_001193357.1:c.-77-9020_-77-9012dup	NM_001193357.1:c.-77-9021_-77-9012dup	NM_001193357.1:c.-77-9022_-77-9012dup	NM_001193357.1:c.-77-9023_-77-9012dup	NM_001193357.1:c.-77-9024_-77-9012dup	NM_001193357.1:c.-77-9012_-77-9011insCCCCCCCCCCCCCC	NM_001193357.1:c.-77-9012_-77-9011insCCCCCCCCCCCCCCC	NM_001193357.1:c.-77-9012_-77-9011insCCCCCCCCCCCCCCCC	NM_001193357.1:c.-77-9012_-77-9011insCCCCCCCCCCCCCCCCC	NM_001193357.1:c.-77-9012_-77-9011insCCCCCCCCCCCCCCCCCC	NM_001193357.1:c.-77-9012_-77-9011insCCCCCCCCCCCCCCCCCCCC	NM_001193357.1:c.-77-9012_-77-9011insCCCCCCCCCCCCCCCCCCCCCC
NUP62 transcript variant 5	NM_001193357.2:c.-77-9012=	NM_001193357.2:c.-77-9015_-77-9012del	NM_001193357.2:c.-77-9014_-77-9012del	NM_001193357.2:c.-77-9013_-77-9012del	NM_001193357.2:c.-77-9012del	NM_001193357.2:c.-77-9012dup	NM_001193357.2:c.-77-9013_-77-9012dup	NM_001193357.2:c.-77-9014_-77-9012dup	NM_001193357.2:c.-77-9015_-77-9012dup	NM_001193357.2:c.-77-9016_-77-9012dup	NM_001193357.2:c.-77-9017_-77-9012dup	NM_001193357.2:c.-77-9018_-77-9012dup	NM_001193357.2:c.-77-9019_-77-9012dup	NM_001193357.2:c.-77-9020_-77-9012dup	NM_001193357.2:c.-77-9021_-77-9012dup	NM_001193357.2:c.-77-9022_-77-9012dup	NM_001193357.2:c.-77-9023_-77-9012dup	NM_001193357.2:c.-77-9024_-77-9012dup	NM_001193357.2:c.-77-9012_-77-9011insCCCCCCCCCCCCCC	NM_001193357.2:c.-77-9012_-77-9011insCCCCCCCCCCCCCCC	NM_001193357.2:c.-77-9012_-77-9011insCCCCCCCCCCCCCCCC	NM_001193357.2:c.-77-9012_-77-9011insCCCCCCCCCCCCCCCCC	NM_001193357.2:c.-77-9012_-77-9011insCCCCCCCCCCCCCCCCCC	NM_001193357.2:c.-77-9012_-77-9011insCCCCCCCCCCCCCCCCCCCC	NM_001193357.2:c.-77-9012_-77-9011insCCCCCCCCCCCCCCCCCCCCCC
IL4I1 transcript variant 3	NM_001258017.1:c.-228+8798=	NM_001258017.1:c.-228+8795_-228+8798del	NM_001258017.1:c.-228+8796_-228+8798del	NM_001258017.1:c.-228+8797_-228+8798del	NM_001258017.1:c.-228+8798del	NM_001258017.1:c.-228+8798dup	NM_001258017.1:c.-228+8797_-228+8798dup	NM_001258017.1:c.-228+8796_-228+8798dup	NM_001258017.1:c.-228+8795_-228+8798dup	NM_001258017.1:c.-228+8794_-228+8798dup	NM_001258017.1:c.-228+8793_-228+8798dup	NM_001258017.1:c.-228+8792_-228+8798dup	NM_001258017.1:c.-228+8791_-228+8798dup	NM_001258017.1:c.-228+8790_-228+8798dup	NM_001258017.1:c.-228+8789_-228+8798dup	NM_001258017.1:c.-228+8788_-228+8798dup	NM_001258017.1:c.-228+8787_-228+8798dup	NM_001258017.1:c.-228+8786_-228+8798dup	NM_001258017.1:c.-228+8798_-228+8799insCCCCCCCCCCCCCC	NM_001258017.1:c.-228+8798_-228+8799insCCCCCCCCCCCCCCC	NM_001258017.1:c.-228+8798_-228+8799insCCCCCCCCCCCCCCCC	NM_001258017.1:c.-228+8798_-228+8799insCCCCCCCCCCCCCCCCC	NM_001258017.1:c.-228+8798_-228+8799insCCCCCCCCCCCCCCCCCC	NM_001258017.1:c.-228+8798_-228+8799insCCCCCCCCCCCCCCCCCCCC	NM_001258017.1:c.-228+8798_-228+8799insCCCCCCCCCCCCCCCCCCCCCC
IL4I1 transcript variant 3	NM_001258017.2:c.-228+8798=	NM_001258017.2:c.-228+8795_-228+8798del	NM_001258017.2:c.-228+8796_-228+8798del	NM_001258017.2:c.-228+8797_-228+8798del	NM_001258017.2:c.-228+8798del	NM_001258017.2:c.-228+8798dup	NM_001258017.2:c.-228+8797_-228+8798dup	NM_001258017.2:c.-228+8796_-228+8798dup	NM_001258017.2:c.-228+8795_-228+8798dup	NM_001258017.2:c.-228+8794_-228+8798dup	NM_001258017.2:c.-228+8793_-228+8798dup	NM_001258017.2:c.-228+8792_-228+8798dup	NM_001258017.2:c.-228+8791_-228+8798dup	NM_001258017.2:c.-228+8790_-228+8798dup	NM_001258017.2:c.-228+8789_-228+8798dup	NM_001258017.2:c.-228+8788_-228+8798dup	NM_001258017.2:c.-228+8787_-228+8798dup	NM_001258017.2:c.-228+8786_-228+8798dup	NM_001258017.2:c.-228+8798_-228+8799insCCCCCCCCCCCCCC	NM_001258017.2:c.-228+8798_-228+8799insCCCCCCCCCCCCCCC	NM_001258017.2:c.-228+8798_-228+8799insCCCCCCCCCCCCCCCC	NM_001258017.2:c.-228+8798_-228+8799insCCCCCCCCCCCCCCCCC	NM_001258017.2:c.-228+8798_-228+8799insCCCCCCCCCCCCCCCCCC	NM_001258017.2:c.-228+8798_-228+8799insCCCCCCCCCCCCCCCCCCCC	NM_001258017.2:c.-228+8798_-228+8799insCCCCCCCCCCCCCCCCCCCCCC
IL4I1 transcript variant 4	NM_001258018.1:c.-286+8798=	NM_001258018.1:c.-286+8795_-286+8798del	NM_001258018.1:c.-286+8796_-286+8798del	NM_001258018.1:c.-286+8797_-286+8798del	NM_001258018.1:c.-286+8798del	NM_001258018.1:c.-286+8798dup	NM_001258018.1:c.-286+8797_-286+8798dup	NM_001258018.1:c.-286+8796_-286+8798dup	NM_001258018.1:c.-286+8795_-286+8798dup	NM_001258018.1:c.-286+8794_-286+8798dup	NM_001258018.1:c.-286+8793_-286+8798dup	NM_001258018.1:c.-286+8792_-286+8798dup	NM_001258018.1:c.-286+8791_-286+8798dup	NM_001258018.1:c.-286+8790_-286+8798dup	NM_001258018.1:c.-286+8789_-286+8798dup	NM_001258018.1:c.-286+8788_-286+8798dup	NM_001258018.1:c.-286+8787_-286+8798dup	NM_001258018.1:c.-286+8786_-286+8798dup	NM_001258018.1:c.-286+8798_-286+8799insCCCCCCCCCCCCCC	NM_001258018.1:c.-286+8798_-286+8799insCCCCCCCCCCCCCCC	NM_001258018.1:c.-286+8798_-286+8799insCCCCCCCCCCCCCCCC	NM_001258018.1:c.-286+8798_-286+8799insCCCCCCCCCCCCCCCCC	NM_001258018.1:c.-286+8798_-286+8799insCCCCCCCCCCCCCCCCCC	NM_001258018.1:c.-286+8798_-286+8799insCCCCCCCCCCCCCCCCCCCC	NM_001258018.1:c.-286+8798_-286+8799insCCCCCCCCCCCCCCCCCCCCCC
IL4I1 transcript variant 4	NM_001258018.2:c.-286+8798=	NM_001258018.2:c.-286+8795_-286+8798del	NM_001258018.2:c.-286+8796_-286+8798del	NM_001258018.2:c.-286+8797_-286+8798del	NM_001258018.2:c.-286+8798del	NM_001258018.2:c.-286+8798dup	NM_001258018.2:c.-286+8797_-286+8798dup	NM_001258018.2:c.-286+8796_-286+8798dup	NM_001258018.2:c.-286+8795_-286+8798dup	NM_001258018.2:c.-286+8794_-286+8798dup	NM_001258018.2:c.-286+8793_-286+8798dup	NM_001258018.2:c.-286+8792_-286+8798dup	NM_001258018.2:c.-286+8791_-286+8798dup	NM_001258018.2:c.-286+8790_-286+8798dup	NM_001258018.2:c.-286+8789_-286+8798dup	NM_001258018.2:c.-286+8788_-286+8798dup	NM_001258018.2:c.-286+8787_-286+8798dup	NM_001258018.2:c.-286+8786_-286+8798dup	NM_001258018.2:c.-286+8798_-286+8799insCCCCCCCCCCCCCC	NM_001258018.2:c.-286+8798_-286+8799insCCCCCCCCCCCCCCC	NM_001258018.2:c.-286+8798_-286+8799insCCCCCCCCCCCCCCCC	NM_001258018.2:c.-286+8798_-286+8799insCCCCCCCCCCCCCCCCC	NM_001258018.2:c.-286+8798_-286+8799insCCCCCCCCCCCCCCCCCC	NM_001258018.2:c.-286+8798_-286+8799insCCCCCCCCCCCCCCCCCCCC	NM_001258018.2:c.-286+8798_-286+8799insCCCCCCCCCCCCCCCCCCCCCC
NUP62 transcript variant 4	NM_012346.4:c.-77-9012=	NM_012346.4:c.-77-9015_-77-9012del	NM_012346.4:c.-77-9014_-77-9012del	NM_012346.4:c.-77-9013_-77-9012del	NM_012346.4:c.-77-9012del	NM_012346.4:c.-77-9012dup	NM_012346.4:c.-77-9013_-77-9012dup	NM_012346.4:c.-77-9014_-77-9012dup	NM_012346.4:c.-77-9015_-77-9012dup	NM_012346.4:c.-77-9016_-77-9012dup	NM_012346.4:c.-77-9017_-77-9012dup	NM_012346.4:c.-77-9018_-77-9012dup	NM_012346.4:c.-77-9019_-77-9012dup	NM_012346.4:c.-77-9020_-77-9012dup	NM_012346.4:c.-77-9021_-77-9012dup	NM_012346.4:c.-77-9022_-77-9012dup	NM_012346.4:c.-77-9023_-77-9012dup	NM_012346.4:c.-77-9024_-77-9012dup	NM_012346.4:c.-77-9012_-77-9011insCCCCCCCCCCCCCC	NM_012346.4:c.-77-9012_-77-9011insCCCCCCCCCCCCCCC	NM_012346.4:c.-77-9012_-77-9011insCCCCCCCCCCCCCCCC	NM_012346.4:c.-77-9012_-77-9011insCCCCCCCCCCCCCCCCC	NM_012346.4:c.-77-9012_-77-9011insCCCCCCCCCCCCCCCCCC	NM_012346.4:c.-77-9012_-77-9011insCCCCCCCCCCCCCCCCCCCC	NM_012346.4:c.-77-9012_-77-9011insCCCCCCCCCCCCCCCCCCCCCC
NUP62 transcript variant 4	NM_012346.5:c.-77-9012=	NM_012346.5:c.-77-9015_-77-9012del	NM_012346.5:c.-77-9014_-77-9012del	NM_012346.5:c.-77-9013_-77-9012del	NM_012346.5:c.-77-9012del	NM_012346.5:c.-77-9012dup	NM_012346.5:c.-77-9013_-77-9012dup	NM_012346.5:c.-77-9014_-77-9012dup	NM_012346.5:c.-77-9015_-77-9012dup	NM_012346.5:c.-77-9016_-77-9012dup	NM_012346.5:c.-77-9017_-77-9012dup	NM_012346.5:c.-77-9018_-77-9012dup	NM_012346.5:c.-77-9019_-77-9012dup	NM_012346.5:c.-77-9020_-77-9012dup	NM_012346.5:c.-77-9021_-77-9012dup	NM_012346.5:c.-77-9022_-77-9012dup	NM_012346.5:c.-77-9023_-77-9012dup	NM_012346.5:c.-77-9024_-77-9012dup	NM_012346.5:c.-77-9012_-77-9011insCCCCCCCCCCCCCC	NM_012346.5:c.-77-9012_-77-9011insCCCCCCCCCCCCCCC	NM_012346.5:c.-77-9012_-77-9011insCCCCCCCCCCCCCCCC	NM_012346.5:c.-77-9012_-77-9011insCCCCCCCCCCCCCCCCC	NM_012346.5:c.-77-9012_-77-9011insCCCCCCCCCCCCCCCCCC	NM_012346.5:c.-77-9012_-77-9011insCCCCCCCCCCCCCCCCCCCC	NM_012346.5:c.-77-9012_-77-9011insCCCCCCCCCCCCCCCCCCCCCC
NUP62 transcript variant 2	NM_016553.4:c.-78+8798=	NM_016553.4:c.-78+8795_-78+8798del	NM_016553.4:c.-78+8796_-78+8798del	NM_016553.4:c.-78+8797_-78+8798del	NM_016553.4:c.-78+8798del	NM_016553.4:c.-78+8798dup	NM_016553.4:c.-78+8797_-78+8798dup	NM_016553.4:c.-78+8796_-78+8798dup	NM_016553.4:c.-78+8795_-78+8798dup	NM_016553.4:c.-78+8794_-78+8798dup	NM_016553.4:c.-78+8793_-78+8798dup	NM_016553.4:c.-78+8792_-78+8798dup	NM_016553.4:c.-78+8791_-78+8798dup	NM_016553.4:c.-78+8790_-78+8798dup	NM_016553.4:c.-78+8789_-78+8798dup	NM_016553.4:c.-78+8788_-78+8798dup	NM_016553.4:c.-78+8787_-78+8798dup	NM_016553.4:c.-78+8786_-78+8798dup	NM_016553.4:c.-78+8798_-78+8799insCCCCCCCCCCCCCC	NM_016553.4:c.-78+8798_-78+8799insCCCCCCCCCCCCCCC	NM_016553.4:c.-78+8798_-78+8799insCCCCCCCCCCCCCCCC	NM_016553.4:c.-78+8798_-78+8799insCCCCCCCCCCCCCCCCC	NM_016553.4:c.-78+8798_-78+8799insCCCCCCCCCCCCCCCCCC	NM_016553.4:c.-78+8798_-78+8799insCCCCCCCCCCCCCCCCCCCC	NM_016553.4:c.-78+8798_-78+8799insCCCCCCCCCCCCCCCCCCCCCC
NUP62 transcript variant 2	NM_016553.5:c.-78+8798=	NM_016553.5:c.-78+8795_-78+8798del	NM_016553.5:c.-78+8796_-78+8798del	NM_016553.5:c.-78+8797_-78+8798del	NM_016553.5:c.-78+8798del	NM_016553.5:c.-78+8798dup	NM_016553.5:c.-78+8797_-78+8798dup	NM_016553.5:c.-78+8796_-78+8798dup	NM_016553.5:c.-78+8795_-78+8798dup	NM_016553.5:c.-78+8794_-78+8798dup	NM_016553.5:c.-78+8793_-78+8798dup	NM_016553.5:c.-78+8792_-78+8798dup	NM_016553.5:c.-78+8791_-78+8798dup	NM_016553.5:c.-78+8790_-78+8798dup	NM_016553.5:c.-78+8789_-78+8798dup	NM_016553.5:c.-78+8788_-78+8798dup	NM_016553.5:c.-78+8787_-78+8798dup	NM_016553.5:c.-78+8786_-78+8798dup	NM_016553.5:c.-78+8798_-78+8799insCCCCCCCCCCCCCC	NM_016553.5:c.-78+8798_-78+8799insCCCCCCCCCCCCCCC	NM_016553.5:c.-78+8798_-78+8799insCCCCCCCCCCCCCCCC	NM_016553.5:c.-78+8798_-78+8799insCCCCCCCCCCCCCCCCC	NM_016553.5:c.-78+8798_-78+8799insCCCCCCCCCCCCCCCCCC	NM_016553.5:c.-78+8798_-78+8799insCCCCCCCCCCCCCCCCCCCC	NM_016553.5:c.-78+8798_-78+8799insCCCCCCCCCCCCCCCCCCCCCC
NUP62 transcript variant 3	NM_153718.3:c.-77-9012=	NM_153718.3:c.-77-9015_-77-9012del	NM_153718.3:c.-77-9014_-77-9012del	NM_153718.3:c.-77-9013_-77-9012del	NM_153718.3:c.-77-9012del	NM_153718.3:c.-77-9012dup	NM_153718.3:c.-77-9013_-77-9012dup	NM_153718.3:c.-77-9014_-77-9012dup	NM_153718.3:c.-77-9015_-77-9012dup	NM_153718.3:c.-77-9016_-77-9012dup	NM_153718.3:c.-77-9017_-77-9012dup	NM_153718.3:c.-77-9018_-77-9012dup	NM_153718.3:c.-77-9019_-77-9012dup	NM_153718.3:c.-77-9020_-77-9012dup	NM_153718.3:c.-77-9021_-77-9012dup	NM_153718.3:c.-77-9022_-77-9012dup	NM_153718.3:c.-77-9023_-77-9012dup	NM_153718.3:c.-77-9024_-77-9012dup	NM_153718.3:c.-77-9012_-77-9011insCCCCCCCCCCCCCC	NM_153718.3:c.-77-9012_-77-9011insCCCCCCCCCCCCCCC	NM_153718.3:c.-77-9012_-77-9011insCCCCCCCCCCCCCCCC	NM_153718.3:c.-77-9012_-77-9011insCCCCCCCCCCCCCCCCC	NM_153718.3:c.-77-9012_-77-9011insCCCCCCCCCCCCCCCCCC	NM_153718.3:c.-77-9012_-77-9011insCCCCCCCCCCCCCCCCCCCC	NM_153718.3:c.-77-9012_-77-9011insCCCCCCCCCCCCCCCCCCCCCC
NUP62 transcript variant 3	NM_153718.4:c.-77-9012=	NM_153718.4:c.-77-9015_-77-9012del	NM_153718.4:c.-77-9014_-77-9012del	NM_153718.4:c.-77-9013_-77-9012del	NM_153718.4:c.-77-9012del	NM_153718.4:c.-77-9012dup	NM_153718.4:c.-77-9013_-77-9012dup	NM_153718.4:c.-77-9014_-77-9012dup	NM_153718.4:c.-77-9015_-77-9012dup	NM_153718.4:c.-77-9016_-77-9012dup	NM_153718.4:c.-77-9017_-77-9012dup	NM_153718.4:c.-77-9018_-77-9012dup	NM_153718.4:c.-77-9019_-77-9012dup	NM_153718.4:c.-77-9020_-77-9012dup	NM_153718.4:c.-77-9021_-77-9012dup	NM_153718.4:c.-77-9022_-77-9012dup	NM_153718.4:c.-77-9023_-77-9012dup	NM_153718.4:c.-77-9024_-77-9012dup	NM_153718.4:c.-77-9012_-77-9011insCCCCCCCCCCCCCC	NM_153718.4:c.-77-9012_-77-9011insCCCCCCCCCCCCCCC	NM_153718.4:c.-77-9012_-77-9011insCCCCCCCCCCCCCCCC	NM_153718.4:c.-77-9012_-77-9011insCCCCCCCCCCCCCCCCC	NM_153718.4:c.-77-9012_-77-9011insCCCCCCCCCCCCCCCCCC	NM_153718.4:c.-77-9012_-77-9011insCCCCCCCCCCCCCCCCCCCC	NM_153718.4:c.-77-9012_-77-9011insCCCCCCCCCCCCCCCCCCCCCC
NUP62 transcript variant 1	NM_153719.3:c.-78+8798=	NM_153719.3:c.-78+8795_-78+8798del	NM_153719.3:c.-78+8796_-78+8798del	NM_153719.3:c.-78+8797_-78+8798del	NM_153719.3:c.-78+8798del	NM_153719.3:c.-78+8798dup	NM_153719.3:c.-78+8797_-78+8798dup	NM_153719.3:c.-78+8796_-78+8798dup	NM_153719.3:c.-78+8795_-78+8798dup	NM_153719.3:c.-78+8794_-78+8798dup	NM_153719.3:c.-78+8793_-78+8798dup	NM_153719.3:c.-78+8792_-78+8798dup	NM_153719.3:c.-78+8791_-78+8798dup	NM_153719.3:c.-78+8790_-78+8798dup	NM_153719.3:c.-78+8789_-78+8798dup	NM_153719.3:c.-78+8788_-78+8798dup	NM_153719.3:c.-78+8787_-78+8798dup	NM_153719.3:c.-78+8786_-78+8798dup	NM_153719.3:c.-78+8798_-78+8799insCCCCCCCCCCCCCC	NM_153719.3:c.-78+8798_-78+8799insCCCCCCCCCCCCCCC	NM_153719.3:c.-78+8798_-78+8799insCCCCCCCCCCCCCCCC	NM_153719.3:c.-78+8798_-78+8799insCCCCCCCCCCCCCCCCC	NM_153719.3:c.-78+8798_-78+8799insCCCCCCCCCCCCCCCCCC	NM_153719.3:c.-78+8798_-78+8799insCCCCCCCCCCCCCCCCCCCC	NM_153719.3:c.-78+8798_-78+8799insCCCCCCCCCCCCCCCCCCCCCC
NUP62 transcript variant 1	NM_153719.4:c.-78+8798=	NM_153719.4:c.-78+8795_-78+8798del	NM_153719.4:c.-78+8796_-78+8798del	NM_153719.4:c.-78+8797_-78+8798del	NM_153719.4:c.-78+8798del	NM_153719.4:c.-78+8798dup	NM_153719.4:c.-78+8797_-78+8798dup	NM_153719.4:c.-78+8796_-78+8798dup	NM_153719.4:c.-78+8795_-78+8798dup	NM_153719.4:c.-78+8794_-78+8798dup	NM_153719.4:c.-78+8793_-78+8798dup	NM_153719.4:c.-78+8792_-78+8798dup	NM_153719.4:c.-78+8791_-78+8798dup	NM_153719.4:c.-78+8790_-78+8798dup	NM_153719.4:c.-78+8789_-78+8798dup	NM_153719.4:c.-78+8788_-78+8798dup	NM_153719.4:c.-78+8787_-78+8798dup	NM_153719.4:c.-78+8786_-78+8798dup	NM_153719.4:c.-78+8798_-78+8799insCCCCCCCCCCCCCC	NM_153719.4:c.-78+8798_-78+8799insCCCCCCCCCCCCCCC	NM_153719.4:c.-78+8798_-78+8799insCCCCCCCCCCCCCCCC	NM_153719.4:c.-78+8798_-78+8799insCCCCCCCCCCCCCCCCC	NM_153719.4:c.-78+8798_-78+8799insCCCCCCCCCCCCCCCCCC	NM_153719.4:c.-78+8798_-78+8799insCCCCCCCCCCCCCCCCCCCC	NM_153719.4:c.-78+8798_-78+8799insCCCCCCCCCCCCCCCCCCCCCC
IL4I1 transcript variant 2	NM_172374.2:c.-228+8798=	NM_172374.2:c.-228+8795_-228+8798del	NM_172374.2:c.-228+8796_-228+8798del	NM_172374.2:c.-228+8797_-228+8798del	NM_172374.2:c.-228+8798del	NM_172374.2:c.-228+8798dup	NM_172374.2:c.-228+8797_-228+8798dup	NM_172374.2:c.-228+8796_-228+8798dup	NM_172374.2:c.-228+8795_-228+8798dup	NM_172374.2:c.-228+8794_-228+8798dup	NM_172374.2:c.-228+8793_-228+8798dup	NM_172374.2:c.-228+8792_-228+8798dup	NM_172374.2:c.-228+8791_-228+8798dup	NM_172374.2:c.-228+8790_-228+8798dup	NM_172374.2:c.-228+8789_-228+8798dup	NM_172374.2:c.-228+8788_-228+8798dup	NM_172374.2:c.-228+8787_-228+8798dup	NM_172374.2:c.-228+8786_-228+8798dup	NM_172374.2:c.-228+8798_-228+8799insCCCCCCCCCCCCCC	NM_172374.2:c.-228+8798_-228+8799insCCCCCCCCCCCCCCC	NM_172374.2:c.-228+8798_-228+8799insCCCCCCCCCCCCCCCC	NM_172374.2:c.-228+8798_-228+8799insCCCCCCCCCCCCCCCCC	NM_172374.2:c.-228+8798_-228+8799insCCCCCCCCCCCCCCCCCC	NM_172374.2:c.-228+8798_-228+8799insCCCCCCCCCCCCCCCCCCCC	NM_172374.2:c.-228+8798_-228+8799insCCCCCCCCCCCCCCCCCCCCCC
IL4I1 transcript variant 2	NM_172374.3:c.-228+8798=	NM_172374.3:c.-228+8795_-228+8798del	NM_172374.3:c.-228+8796_-228+8798del	NM_172374.3:c.-228+8797_-228+8798del	NM_172374.3:c.-228+8798del	NM_172374.3:c.-228+8798dup	NM_172374.3:c.-228+8797_-228+8798dup	NM_172374.3:c.-228+8796_-228+8798dup	NM_172374.3:c.-228+8795_-228+8798dup	NM_172374.3:c.-228+8794_-228+8798dup	NM_172374.3:c.-228+8793_-228+8798dup	NM_172374.3:c.-228+8792_-228+8798dup	NM_172374.3:c.-228+8791_-228+8798dup	NM_172374.3:c.-228+8790_-228+8798dup	NM_172374.3:c.-228+8789_-228+8798dup	NM_172374.3:c.-228+8788_-228+8798dup	NM_172374.3:c.-228+8787_-228+8798dup	NM_172374.3:c.-228+8786_-228+8798dup	NM_172374.3:c.-228+8798_-228+8799insCCCCCCCCCCCCCC	NM_172374.3:c.-228+8798_-228+8799insCCCCCCCCCCCCCCC	NM_172374.3:c.-228+8798_-228+8799insCCCCCCCCCCCCCCCC	NM_172374.3:c.-228+8798_-228+8799insCCCCCCCCCCCCCCCCC	NM_172374.3:c.-228+8798_-228+8799insCCCCCCCCCCCCCCCCCC	NM_172374.3:c.-228+8798_-228+8799insCCCCCCCCCCCCCCCCCCCC	NM_172374.3:c.-228+8798_-228+8799insCCCCCCCCCCCCCCCCCCCCCC
NUP62 transcript variant X1	XM_005258698.1:c.-343-7526=	XM_005258698.1:c.-343-7529_-343-7526del	XM_005258698.1:c.-343-7528_-343-7526del	XM_005258698.1:c.-343-7527_-343-7526del	XM_005258698.1:c.-343-7526del	XM_005258698.1:c.-343-7526dup	XM_005258698.1:c.-343-7527_-343-7526dup	XM_005258698.1:c.-343-7528_-343-7526dup	XM_005258698.1:c.-343-7529_-343-7526dup	XM_005258698.1:c.-343-7530_-343-7526dup	XM_005258698.1:c.-343-7531_-343-7526dup	XM_005258698.1:c.-343-7532_-343-7526dup	XM_005258698.1:c.-343-7533_-343-7526dup	XM_005258698.1:c.-343-7534_-343-7526dup	XM_005258698.1:c.-343-7535_-343-7526dup	XM_005258698.1:c.-343-7536_-343-7526dup	XM_005258698.1:c.-343-7537_-343-7526dup	XM_005258698.1:c.-343-7538_-343-7526dup	XM_005258698.1:c.-343-7526_-343-7525insCCCCCCCCCCCCCC	XM_005258698.1:c.-343-7526_-343-7525insCCCCCCCCCCCCCCC	XM_005258698.1:c.-343-7526_-343-7525insCCCCCCCCCCCCCCCC	XM_005258698.1:c.-343-7526_-343-7525insCCCCCCCCCCCCCCCCC	XM_005258698.1:c.-343-7526_-343-7525insCCCCCCCCCCCCCCCCCC	XM_005258698.1:c.-343-7526_-343-7525insCCCCCCCCCCCCCCCCCCCC	XM_005258698.1:c.-343-7526_-343-7525insCCCCCCCCCCCCCCCCCCCCCC
NUP62 transcript variant X2	XM_005258699.1:c.-339-7530=	XM_005258699.1:c.-339-7533_-339-7530del	XM_005258699.1:c.-339-7532_-339-7530del	XM_005258699.1:c.-339-7531_-339-7530del	XM_005258699.1:c.-339-7530del	XM_005258699.1:c.-339-7530dup	XM_005258699.1:c.-339-7531_-339-7530dup	XM_005258699.1:c.-339-7532_-339-7530dup	XM_005258699.1:c.-339-7533_-339-7530dup	XM_005258699.1:c.-339-7534_-339-7530dup	XM_005258699.1:c.-339-7535_-339-7530dup	XM_005258699.1:c.-339-7536_-339-7530dup	XM_005258699.1:c.-339-7537_-339-7530dup	XM_005258699.1:c.-339-7538_-339-7530dup	XM_005258699.1:c.-339-7539_-339-7530dup	XM_005258699.1:c.-339-7540_-339-7530dup	XM_005258699.1:c.-339-7541_-339-7530dup	XM_005258699.1:c.-339-7542_-339-7530dup	XM_005258699.1:c.-339-7530_-339-7529insCCCCCCCCCCCCCC	XM_005258699.1:c.-339-7530_-339-7529insCCCCCCCCCCCCCCC	XM_005258699.1:c.-339-7530_-339-7529insCCCCCCCCCCCCCCCC	XM_005258699.1:c.-339-7530_-339-7529insCCCCCCCCCCCCCCCCC	XM_005258699.1:c.-339-7530_-339-7529insCCCCCCCCCCCCCCCCCC	XM_005258699.1:c.-339-7530_-339-7529insCCCCCCCCCCCCCCCCCCCC	XM_005258699.1:c.-339-7530_-339-7529insCCCCCCCCCCCCCCCCCCCCCC
IL4I1 transcript variant X1	XM_005258718.1:c.-228+895=	XM_005258718.1:c.-228+892_-228+895del	XM_005258718.1:c.-228+893_-228+895del	XM_005258718.1:c.-228+894_-228+895del	XM_005258718.1:c.-228+895del	XM_005258718.1:c.-228+895dup	XM_005258718.1:c.-228+894_-228+895dup	XM_005258718.1:c.-228+893_-228+895dup	XM_005258718.1:c.-228+892_-228+895dup	XM_005258718.1:c.-228+891_-228+895dup	XM_005258718.1:c.-228+890_-228+895dup	XM_005258718.1:c.-228+889_-228+895dup	XM_005258718.1:c.-228+888_-228+895dup	XM_005258718.1:c.-228+887_-228+895dup	XM_005258718.1:c.-228+886_-228+895dup	XM_005258718.1:c.-228+885_-228+895dup	XM_005258718.1:c.-228+884_-228+895dup	XM_005258718.1:c.-228+883_-228+895dup	XM_005258718.1:c.-228+895_-228+896insCCCCCCCCCCCCCC	XM_005258718.1:c.-228+895_-228+896insCCCCCCCCCCCCCCC	XM_005258718.1:c.-228+895_-228+896insCCCCCCCCCCCCCCCC	XM_005258718.1:c.-228+895_-228+896insCCCCCCCCCCCCCCCCC	XM_005258718.1:c.-228+895_-228+896insCCCCCCCCCCCCCCCCCC	XM_005258718.1:c.-228+895_-228+896insCCCCCCCCCCCCCCCCCCCC	XM_005258718.1:c.-228+895_-228+896insCCCCCCCCCCCCCCCCCCCCCC

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#.

60 SubSNP, 39 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss77907619	Aug 21, 2014 (142)
2	HGSV	ss82109428	Dec 15, 2007 (129)
3	HUMANGENOME_JCVI	ss95731182	Mar 15, 2016 (147)
4	PJP	ss294966143	May 09, 2011 (134)
5	SSMP	ss664449876	Apr 01, 2015 (144)
6	EVA_GENOME_DK	ss1575303322	Apr 01, 2015 (144)
7	SWEGEN	ss3017610394	Nov 08, 2017 (151)
8	MCHAISSO	ss3064768220	Nov 08, 2017 (151)
9	EVA_DECODE	ss3702926848	Jul 13, 2019 (153)
10	EVA_DECODE	ss3702926849	Jul 13, 2019 (153)
11	EVA_DECODE	ss3702926850	Jul 13, 2019 (153)
12	EVA_DECODE	ss3702926851	Jul 13, 2019 (153)
13	ACPOP	ss3743107346	Jul 13, 2019 (153)
14	ACPOP	ss3743107347	Jul 13, 2019 (153)
15	ACPOP	ss3743107348	Jul 13, 2019 (153)
16	PACBIO	ss3788553117	Jul 13, 2019 (153)
17	PACBIO	ss3793459278	Jul 13, 2019 (153)
18	PACBIO	ss3798346158	Jul 13, 2019 (153)
19	EVA	ss3835501568	Apr 27, 2020 (154)
20	GNOMAD	ss4332620851	Apr 27, 2021 (155)
21	GNOMAD	ss4332620852	Apr 27, 2021 (155)
22	GNOMAD	ss4332620853	Apr 27, 2021 (155)
23	GNOMAD	ss4332620854	Apr 27, 2021 (155)
24	GNOMAD	ss4332620855	Apr 27, 2021 (155)
25	GNOMAD	ss4332620856	Apr 27, 2021 (155)
26	GNOMAD	ss4332620857	Apr 27, 2021 (155)
27	GNOMAD	ss4332620858	Apr 27, 2021 (155)
28	GNOMAD	ss4332620859	Apr 27, 2021 (155)
29	GNOMAD	ss4332620860	Apr 27, 2021 (155)
30	GNOMAD	ss4332620861	Apr 27, 2021 (155)
31	GNOMAD	ss4332620862	Apr 27, 2021 (155)
32	GNOMAD	ss4332620863	Apr 27, 2021 (155)
33	GNOMAD	ss4332620864	Apr 27, 2021 (155)
34	GNOMAD	ss4332620865	Apr 27, 2021 (155)
35	GNOMAD	ss4332620866	Apr 27, 2021 (155)
36	GNOMAD	ss4332620867	Apr 27, 2021 (155)
37	GNOMAD	ss4332620868	Apr 27, 2021 (155)
38	GNOMAD	ss4332620869	Apr 27, 2021 (155)
39	GNOMAD	ss4332620870	Apr 27, 2021 (155)
40	GNOMAD	ss4332620871	Apr 27, 2021 (155)
41	GNOMAD	ss4332620872	Apr 27, 2021 (155)
42	GNOMAD	ss4332620873	Apr 27, 2021 (155)
43	GNOMAD	ss4332620874	Apr 27, 2021 (155)
44	TOMMO_GENOMICS	ss5228148091	Apr 27, 2021 (155)
45	TOMMO_GENOMICS	ss5228148092	Apr 27, 2021 (155)
46	TOMMO_GENOMICS	ss5228148093	Apr 27, 2021 (155)
47	TOMMO_GENOMICS	ss5228148094	Apr 27, 2021 (155)
48	TOMMO_GENOMICS	ss5228148095	Apr 27, 2021 (155)
49	1000G_HIGH_COVERAGE	ss5307544600	Oct 13, 2022 (156)
50	1000G_HIGH_COVERAGE	ss5307544601	Oct 13, 2022 (156)
51	HUGCELL_USP	ss5500017063	Oct 13, 2022 (156)
52	HUGCELL_USP	ss5500017064	Oct 13, 2022 (156)
53	HUGCELL_USP	ss5500017065	Oct 13, 2022 (156)
54	TOMMO_GENOMICS	ss5786914447	Oct 13, 2022 (156)
55	TOMMO_GENOMICS	ss5786914448	Oct 13, 2022 (156)
56	TOMMO_GENOMICS	ss5786914449	Oct 13, 2022 (156)
57	TOMMO_GENOMICS	ss5786914450	Oct 13, 2022 (156)
58	TOMMO_GENOMICS	ss5786914451	Oct 13, 2022 (156)
59	EVA	ss5840662074	Oct 13, 2022 (156)
60	EVA	ss5840662075	Oct 13, 2022 (156)
61	The Danish reference pan genome	NC_000019.9 - 50422153	Apr 27, 2020 (154)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542341866 (NC_000019.10:49918895::G 197/65772) Row 542341867 (NC_000019.10:49918895::GG 57/65816) Row 542341868 (NC_000019.10:49918895::GGG 15/65842)...	-	Apr 27, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542341866 (NC_000019.10:49918895::G 197/65772) Row 542341867 (NC_000019.10:49918895::GG 57/65816) Row 542341868 (NC_000019.10:49918895::GGG 15/65842)...	-	Apr 27, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542341866 (NC_000019.10:49918895::G 197/65772) Row 542341867 (NC_000019.10:49918895::GG 57/65816) Row 542341868 (NC_000019.10:49918895::GGG 15/65842)...	-	Apr 27, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542341866 (NC_000019.10:49918895::G 197/65772) Row 542341867 (NC_000019.10:49918895::GG 57/65816) Row 542341868 (NC_000019.10:49918895::GGG 15/65842)...	-	Apr 27, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542341866 (NC_000019.10:49918895::G 197/65772) Row 542341867 (NC_000019.10:49918895::GG 57/65816) Row 542341868 (NC_000019.10:49918895::GGG 15/65842)...	-	Apr 27, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542341866 (NC_000019.10:49918895::G 197/65772) Row 542341867 (NC_000019.10:49918895::GG 57/65816) Row 542341868 (NC_000019.10:49918895::GGG 15/65842)...	-	Apr 27, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542341866 (NC_000019.10:49918895::G 197/65772) Row 542341867 (NC_000019.10:49918895::GG 57/65816) Row 542341868 (NC_000019.10:49918895::GGG 15/65842)...	-	Apr 27, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542341866 (NC_000019.10:49918895::G 197/65772) Row 542341867 (NC_000019.10:49918895::GG 57/65816) Row 542341868 (NC_000019.10:49918895::GGG 15/65842)...	-	Apr 27, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542341866 (NC_000019.10:49918895::G 197/65772) Row 542341867 (NC_000019.10:49918895::GG 57/65816) Row 542341868 (NC_000019.10:49918895::GGG 15/65842)...	-	Apr 27, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542341866 (NC_000019.10:49918895::G 197/65772) Row 542341867 (NC_000019.10:49918895::GG 57/65816) Row 542341868 (NC_000019.10:49918895::GGG 15/65842)...	-	Apr 27, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542341866 (NC_000019.10:49918895::G 197/65772) Row 542341867 (NC_000019.10:49918895::GG 57/65816) Row 542341868 (NC_000019.10:49918895::GGG 15/65842)...	-	Apr 27, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542341866 (NC_000019.10:49918895::G 197/65772) Row 542341867 (NC_000019.10:49918895::GG 57/65816) Row 542341868 (NC_000019.10:49918895::GGG 15/65842)...	-	Apr 27, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542341866 (NC_000019.10:49918895::G 197/65772) Row 542341867 (NC_000019.10:49918895::GG 57/65816) Row 542341868 (NC_000019.10:49918895::GGG 15/65842)...	-	Apr 27, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542341866 (NC_000019.10:49918895::G 197/65772) Row 542341867 (NC_000019.10:49918895::GG 57/65816) Row 542341868 (NC_000019.10:49918895::GGG 15/65842)...	-	Apr 27, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542341866 (NC_000019.10:49918895::G 197/65772) Row 542341867 (NC_000019.10:49918895::GG 57/65816) Row 542341868 (NC_000019.10:49918895::GGG 15/65842)...	-	Apr 27, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542341866 (NC_000019.10:49918895::G 197/65772) Row 542341867 (NC_000019.10:49918895::GG 57/65816) Row 542341868 (NC_000019.10:49918895::GGG 15/65842)...	-	Apr 27, 2021 (155)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542341866 (NC_000019.10:49918895::G 197/65772) Row 542341867 (NC_000019.10:49918895::GG 57/65816) Row 542341868 (NC_000019.10:49918895::GGG 15/65842)...	-	Apr 27, 2021 (155)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542341866 (NC_000019.10:49918895::G 197/65772) Row 542341867 (NC_000019.10:49918895::GG 57/65816) Row 542341868 (NC_000019.10:49918895::GGG 15/65842)...	-	Apr 27, 2021 (155)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542341866 (NC_000019.10:49918895::G 197/65772) Row 542341867 (NC_000019.10:49918895::GG 57/65816) Row 542341868 (NC_000019.10:49918895::GGG 15/65842)...	-	Apr 27, 2021 (155)
81	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542341866 (NC_000019.10:49918895::G 197/65772) Row 542341867 (NC_000019.10:49918895::GG 57/65816) Row 542341868 (NC_000019.10:49918895::GGG 15/65842)...	-	Apr 27, 2021 (155)
82	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542341866 (NC_000019.10:49918895::G 197/65772) Row 542341867 (NC_000019.10:49918895::GG 57/65816) Row 542341868 (NC_000019.10:49918895::GGG 15/65842)...	-	Apr 27, 2021 (155)
83	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542341866 (NC_000019.10:49918895::G 197/65772) Row 542341867 (NC_000019.10:49918895::GG 57/65816) Row 542341868 (NC_000019.10:49918895::GGG 15/65842)...	-	Apr 27, 2021 (155)
84	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542341866 (NC_000019.10:49918895::G 197/65772) Row 542341867 (NC_000019.10:49918895::GG 57/65816) Row 542341868 (NC_000019.10:49918895::GGG 15/65842)...	-	Apr 27, 2021 (155)
85	gnomAD - Genomes Submission ignored due to conflicting rows: Row 542341866 (NC_000019.10:49918895::G 197/65772) Row 542341867 (NC_000019.10:49918895::GG 57/65816) Row 542341868 (NC_000019.10:49918895::GGG 15/65842)...	-	Apr 27, 2021 (155)
86	Northern Sweden Submission ignored due to conflicting rows: Row 16392211 (NC_000019.9:50422152:G: 189/490) Row 16392212 (NC_000019.9:50422152:GG: 127/490) Row 16392213 (NC_000019.9:50422152:GGG: 14/490)	-	Jul 13, 2019 (153)
87	Northern Sweden Submission ignored due to conflicting rows: Row 16392211 (NC_000019.9:50422152:G: 189/490) Row 16392212 (NC_000019.9:50422152:GG: 127/490) Row 16392213 (NC_000019.9:50422152:GGG: 14/490)	-	Jul 13, 2019 (153)
88	Northern Sweden Submission ignored due to conflicting rows: Row 16392211 (NC_000019.9:50422152:G: 189/490) Row 16392212 (NC_000019.9:50422152:GG: 127/490) Row 16392213 (NC_000019.9:50422152:GGG: 14/490)	-	Jul 13, 2019 (153)
89	8.3KJPN Submission ignored due to conflicting rows: Row 86117398 (NC_000019.9:50422152:GG: 1191/14994) Row 86117399 (NC_000019.9:50422152:GGG: 5885/14994) Row 86117400 (NC_000019.9:50422152:G: 3974/14994)...	-	Apr 27, 2021 (155)
90	8.3KJPN Submission ignored due to conflicting rows: Row 86117398 (NC_000019.9:50422152:GG: 1191/14994) Row 86117399 (NC_000019.9:50422152:GGG: 5885/14994) Row 86117400 (NC_000019.9:50422152:G: 3974/14994)...	-	Apr 27, 2021 (155)
91	8.3KJPN Submission ignored due to conflicting rows: Row 86117398 (NC_000019.9:50422152:GG: 1191/14994) Row 86117399 (NC_000019.9:50422152:GGG: 5885/14994) Row 86117400 (NC_000019.9:50422152:G: 3974/14994)...	-	Apr 27, 2021 (155)
92	8.3KJPN Submission ignored due to conflicting rows: Row 86117398 (NC_000019.9:50422152:GG: 1191/14994) Row 86117399 (NC_000019.9:50422152:GGG: 5885/14994) Row 86117400 (NC_000019.9:50422152:G: 3974/14994)...	-	Apr 27, 2021 (155)
93	8.3KJPN Submission ignored due to conflicting rows: Row 86117398 (NC_000019.9:50422152:GG: 1191/14994) Row 86117399 (NC_000019.9:50422152:GGG: 5885/14994) Row 86117400 (NC_000019.9:50422152:G: 3974/14994)...	-	Apr 27, 2021 (155)
94	14KJPN Submission ignored due to conflicting rows: Row 120751551 (NC_000019.10:49918895:GGG: 9019/27002) Row 120751552 (NC_000019.10:49918895:GG: 2057/27002) Row 120751553 (NC_000019.10:49918895:G: 7614/27002)...	-	Oct 13, 2022 (156)
95	14KJPN Submission ignored due to conflicting rows: Row 120751551 (NC_000019.10:49918895:GGG: 9019/27002) Row 120751552 (NC_000019.10:49918895:GG: 2057/27002) Row 120751553 (NC_000019.10:49918895:G: 7614/27002)...	-	Oct 13, 2022 (156)
96	14KJPN Submission ignored due to conflicting rows: Row 120751551 (NC_000019.10:49918895:GGG: 9019/27002) Row 120751552 (NC_000019.10:49918895:GG: 2057/27002) Row 120751553 (NC_000019.10:49918895:G: 7614/27002)...	-	Oct 13, 2022 (156)
97	14KJPN Submission ignored due to conflicting rows: Row 120751551 (NC_000019.10:49918895:GGG: 9019/27002) Row 120751552 (NC_000019.10:49918895:GG: 2057/27002) Row 120751553 (NC_000019.10:49918895:G: 7614/27002)...	-	Oct 13, 2022 (156)
98	14KJPN Submission ignored due to conflicting rows: Row 120751551 (NC_000019.10:49918895:GGG: 9019/27002) Row 120751552 (NC_000019.10:49918895:GG: 2057/27002) Row 120751553 (NC_000019.10:49918895:G: 7614/27002)...	-	Oct 13, 2022 (156)
99	ALFA	NC_000019.10 - 49918896	Apr 27, 2021 (155)

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

Associated ID	History Updated (Build)
rs869095577	Jul 19, 2016 (147)
rs58757037	Oct 26, 2010 (133)
rs71180660	Oct 26, 2010 (133)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4332620874	NC_000019.10:49918895:GGGG:	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGG	(self)
5075578387	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGG	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGG	(self)
ss82109428	NC_000019.8:55113974:GGG:	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGG	(self)
639025, ss664449876, ss1575303322, ss3017610394, ss3743107348, ss5228148092, ss5840662075	NC_000019.9:50422152:GGG:	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGG	(self)
ss3702926851, ss4332620873, ss5307544600, ss5500017065, ss5786914447	NC_000019.10:49918895:GGG:	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGG	(self)
5075578387	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGG	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGG	(self)
ss77907619	NC_000019.8:55113975:GG:	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGG	(self)
ss3743107347, ss3788553117, ss3793459278, ss3798346158, ss3835501568, ss5228148091, ss5840662074	NC_000019.9:50422152:GG:	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGG	(self)
ss3064768220, ss4332620872, ss5307544601, ss5500017064, ss5786914448	NC_000019.10:49918895:GG:	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGG	(self)
5075578387	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGG	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGG	(self)
ss3702926850	NC_000019.10:49918896:GG:	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGG	(self)
ss294966143	NC_000019.8:55113976:G:	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGG	(self)
ss3743107346, ss5228148093	NC_000019.9:50422152:G:	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGG	(self)
ss4332620871, ss5500017063, ss5786914449	NC_000019.10:49918895:G:	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGG	(self)
5075578387	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGG	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGG	(self)
ss3702926849	NC_000019.10:49918897:G:	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGG	(self)
ss95731182	NT_011109.16:22690382:G:	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGG	(self)
ss5228148094	NC_000019.9:50422152::G	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGG	(self)
ss4332620851, ss5786914450	NC_000019.10:49918895::G	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGG	(self)
5075578387	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGG	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGG	(self)
ss4332620852	NC_000019.10:49918895::GG	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGGG	(self)
5075578387	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGGG	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGGG	(self)
ss5228148095	NC_000019.9:50422152::GGG	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGG	(self)
ss4332620853, ss5786914451	NC_000019.10:49918895::GGG	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGG	(self)
5075578387	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGG	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGG	(self)
ss3702926848	NC_000019.10:49918898::GGG	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGG	(self)
ss4332620854	NC_000019.10:49918895::GGGG	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGG	(self)
5075578387	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGG	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGG	(self)
ss4332620855	NC_000019.10:49918895::GGGGG	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGG	(self)
ss4332620856	NC_000019.10:49918895::GGGGGG	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGG	(self)
ss4332620857	NC_000019.10:49918895::GGGGGGG	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGG	(self)
ss4332620858	NC_000019.10:49918895::GGGGGGGG	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGG	(self)
ss4332620859	NC_000019.10:49918895::GGGGGGGGG	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGG	(self)
ss4332620860	NC_000019.10:49918895::GGGGGGGGGG	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGG	(self)
ss4332620861	NC_000019.10:49918895::GGGGGGGGGGG	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGG	(self)
ss4332620862	NC_000019.10:49918895::GGGGGGGGGGGG	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGG	(self)
ss4332620863	NC_000019.10:49918895::GGGGGGGGGGG… NC_000019.10:49918895::GGGGGGGGGGGGG	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGG	(self)
ss4332620864	NC_000019.10:49918895::GGGGGGGGGGG… NC_000019.10:49918895::GGGGGGGGGGGGGG	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGG	(self)
ss4332620865	NC_000019.10:49918895::GGGGGGGGGGG… NC_000019.10:49918895::GGGGGGGGGGGGGGG	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGG	(self)
ss4332620866	NC_000019.10:49918895::GGGGGGGGGGG… NC_000019.10:49918895::GGGGGGGGGGGGGGGG	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGG	(self)
ss4332620867	NC_000019.10:49918895::GGGGGGGGGGG… NC_000019.10:49918895::GGGGGGGGGGGGGGGGG	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	(self)
ss4332620868	NC_000019.10:49918895::GGGGGGGGGGG… NC_000019.10:49918895::GGGGGGGGGGGGGGGGGG	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	(self)
ss4332620869	NC_000019.10:49918895::GGGGGGGGGGG… NC_000019.10:49918895::GGGGGGGGGGGGGGGGGGGG	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	(self)
ss4332620870	NC_000019.10:49918895::GGGGGGGGGGG… NC_000019.10:49918895::GGGGGGGGGGGGGGGGGGGGGG	NC_000019.10:49918895:GGGGGGGGGGGG… NC_000019.10:49918895:GGGGGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGGG	(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 rs56129490

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
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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

rs56129490