Name: rs72242969
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.

rs72242969

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr3:179961202-179961230 (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(GT)₇ / del(GT)₅ / del(GT)₄ / d…
del(GT)₇ / del(GT)₅ / del(GT)₄ / del(GT)₃ / delGTGT / delGT / dupGT / dupGTGT / dup(GT)₃ / dup(GT)₄ / dup(GT)₅ / dup(GT)₆ / dup(GT)₇ / dup(GT)₈
Variation Type: Indel Insertion and Deletion
Frequency: delGTGT=0.115811 (30654/264690, TOPMED)
delGTGT=0.01603 (453/28258, 14KJPN)
delGTGT=0.01611 (270/16760, 8.3KJPN) (+ 16 more)
del(GT)₇=0.0000 (0/8330, ALFA)
del(GT)₄=0.0000 (0/8330, ALFA)
del(GT)₃=0.0000 (0/8330, ALFA)
delGTGT=0.0000 (0/8330, ALFA)
delGT=0.0000 (0/8330, ALFA)
dupGT=0.0000 (0/8330, ALFA)
dupGTGT=0.0000 (0/8330, ALFA)
dup(GT)₃=0.0000 (0/8330, ALFA)
dup(GT)₄=0.0000 (0/8330, ALFA)
dup(GT)₅=0.0000 (0/8330, ALFA)
dup(GT)₆=0.0000 (0/8330, ALFA)
dup(GT)₇=0.0000 (0/8330, ALFA)
dup(GT)₈=0.0000 (0/8330, ALFA)
delGTGT=0.0218 (40/1832, Korea1K)
delGTGT=0.213 (128/600, NorthernSweden)
delGTGT=0.12 (5/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: PEX5L : Intron Variant
LOC124909463 : 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	HWEP
Total	Global	8330	TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=1.0000	TGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000	1.0	N/A
European	Sub	5020	TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=1.0000	TGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000	1.0	N/A
African	Sub	2152	TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=1.0000	TGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000	1.0	N/A
African Others	Sub	84	TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=1.00	TGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00	1.0	N/A
African American	Sub	2068	TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=1.0000	TGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.0000	1.0	N/A
Asian	Sub	98	TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=1.00	TGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00	1.0	N/A
East Asian	Sub	74	TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=1.00	TGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00	1.0	N/A
Other Asian	Sub	24	TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=1.00	TGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00	1.0	N/A
Latin American 1	Sub	120	TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=1.000	TGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000	1.0	N/A
Latin American 2	Sub	514	TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=1.000	TGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000	1.0	N/A
South Asian	Sub	78	TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=1.00	TGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.00	1.0	N/A
Other	Sub	348	TGTGTGTGTGTGTGTGTGTGTGTGTGTGT=1.000	TGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000, TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT=0.000	1.0	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
TopMed	Global	Study-wide	264690	(TG)₁₄T=0.884189	delGTGT=0.115811
14KJPN	JAPANESE	Study-wide	28258	(TG)₁₄T=0.98397	delGTGT=0.01603
8.3KJPN	JAPANESE	Study-wide	16760	(TG)₁₄T=0.98389	delGTGT=0.01611
Allele Frequency Aggregator	Total	Global	8330	(TG)₁₄T=1.0000	del(GT)₇=0.0000, del(GT)₄=0.0000, del(GT)₃=0.0000, delGTGT=0.0000, delGT=0.0000, dupGT=0.0000, dupGTGT=0.0000, dup(GT)₃=0.0000, dup(GT)₄=0.0000, dup(GT)₅=0.0000, dup(GT)₆=0.0000, dup(GT)₇=0.0000, dup(GT)₈=0.0000
Allele Frequency Aggregator	European	Sub	5020	(TG)₁₄T=1.0000	del(GT)₇=0.0000, del(GT)₄=0.0000, del(GT)₃=0.0000, delGTGT=0.0000, delGT=0.0000, dupGT=0.0000, dupGTGT=0.0000, dup(GT)₃=0.0000, dup(GT)₄=0.0000, dup(GT)₅=0.0000, dup(GT)₆=0.0000, dup(GT)₇=0.0000, dup(GT)₈=0.0000
Allele Frequency Aggregator	African	Sub	2152	(TG)₁₄T=1.0000	del(GT)₇=0.0000, del(GT)₄=0.0000, del(GT)₃=0.0000, delGTGT=0.0000, delGT=0.0000, dupGT=0.0000, dupGTGT=0.0000, dup(GT)₃=0.0000, dup(GT)₄=0.0000, dup(GT)₅=0.0000, dup(GT)₆=0.0000, dup(GT)₇=0.0000, dup(GT)₈=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	514	(TG)₁₄T=1.000	del(GT)₇=0.000, del(GT)₄=0.000, del(GT)₃=0.000, delGTGT=0.000, delGT=0.000, dupGT=0.000, dupGTGT=0.000, dup(GT)₃=0.000, dup(GT)₄=0.000, dup(GT)₅=0.000, dup(GT)₆=0.000, dup(GT)₇=0.000, dup(GT)₈=0.000
Allele Frequency Aggregator	Other	Sub	348	(TG)₁₄T=1.000	del(GT)₇=0.000, del(GT)₄=0.000, del(GT)₃=0.000, delGTGT=0.000, delGT=0.000, dupGT=0.000, dupGTGT=0.000, dup(GT)₃=0.000, dup(GT)₄=0.000, dup(GT)₅=0.000, dup(GT)₆=0.000, dup(GT)₇=0.000, dup(GT)₈=0.000
Allele Frequency Aggregator	Latin American 1	Sub	120	(TG)₁₄T=1.000	del(GT)₇=0.000, del(GT)₄=0.000, del(GT)₃=0.000, delGTGT=0.000, delGT=0.000, dupGT=0.000, dupGTGT=0.000, dup(GT)₃=0.000, dup(GT)₄=0.000, dup(GT)₅=0.000, dup(GT)₆=0.000, dup(GT)₇=0.000, dup(GT)₈=0.000
Allele Frequency Aggregator	Asian	Sub	98	(TG)₁₄T=1.00	del(GT)₇=0.00, del(GT)₄=0.00, del(GT)₃=0.00, delGTGT=0.00, delGT=0.00, dupGT=0.00, dupGTGT=0.00, dup(GT)₃=0.00, dup(GT)₄=0.00, dup(GT)₅=0.00, dup(GT)₆=0.00, dup(GT)₇=0.00, dup(GT)₈=0.00
Allele Frequency Aggregator	South Asian	Sub	78	(TG)₁₄T=1.00	del(GT)₇=0.00, del(GT)₄=0.00, del(GT)₃=0.00, delGTGT=0.00, delGT=0.00, dupGT=0.00, dupGTGT=0.00, dup(GT)₃=0.00, dup(GT)₄=0.00, dup(GT)₅=0.00, dup(GT)₆=0.00, dup(GT)₇=0.00, dup(GT)₈=0.00
Korean Genome Project	KOREAN	Study-wide	1832	(TG)₁₄T=0.9782	delGTGT=0.0218
Northern Sweden	ACPOP	Study-wide	600	(TG)₁₄T=0.787	delGTGT=0.213
The Danish reference pan genome	Danish	Study-wide	40	(TG)₁₄T=0.88	delGTGT=0.12

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 3	NC_000003.12:g.179961203GT[7]
GRCh38.p14 chr 3	NC_000003.12:g.179961203GT[9]
GRCh38.p14 chr 3	NC_000003.12:g.179961203GT[10]
GRCh38.p14 chr 3	NC_000003.12:g.179961203GT[11]
GRCh38.p14 chr 3	NC_000003.12:g.179961203GT[12]
GRCh38.p14 chr 3	NC_000003.12:g.179961203GT[13]
GRCh38.p14 chr 3	NC_000003.12:g.179961203GT[15]
GRCh38.p14 chr 3	NC_000003.12:g.179961203GT[16]
GRCh38.p14 chr 3	NC_000003.12:g.179961203GT[17]
GRCh38.p14 chr 3	NC_000003.12:g.179961203GT[18]
GRCh38.p14 chr 3	NC_000003.12:g.179961203GT[19]
GRCh38.p14 chr 3	NC_000003.12:g.179961203GT[20]
GRCh38.p14 chr 3	NC_000003.12:g.179961203GT[21]
GRCh38.p14 chr 3	NC_000003.12:g.179961203GT[22]
GRCh37.p13 chr 3	NC_000003.11:g.179678991GT[7]
GRCh37.p13 chr 3	NC_000003.11:g.179678991GT[9]
GRCh37.p13 chr 3	NC_000003.11:g.179678991GT[10]
GRCh37.p13 chr 3	NC_000003.11:g.179678991GT[11]
GRCh37.p13 chr 3	NC_000003.11:g.179678991GT[12]
GRCh37.p13 chr 3	NC_000003.11:g.179678991GT[13]
GRCh37.p13 chr 3	NC_000003.11:g.179678991GT[15]
GRCh37.p13 chr 3	NC_000003.11:g.179678991GT[16]
GRCh37.p13 chr 3	NC_000003.11:g.179678991GT[17]
GRCh37.p13 chr 3	NC_000003.11:g.179678991GT[18]
GRCh37.p13 chr 3	NC_000003.11:g.179678991GT[19]
GRCh37.p13 chr 3	NC_000003.11:g.179678991GT[20]
GRCh37.p13 chr 3	NC_000003.11:g.179678991GT[21]
GRCh37.p13 chr 3	NC_000003.11:g.179678991GT[22]

Gene: PEX5L, peroxisomal biogenesis factor 5 like (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
PEX5L transcript variant 2	NM_001256750.2:c.22-60494… NM_001256750.2:c.22-60494CA[7]	N/A	Intron Variant
PEX5L transcript variant 3	NM_001256751.2:c.22-62983… NM_001256751.2:c.22-62983CA[7]	N/A	Intron Variant
PEX5L transcript variant 4	NM_001256752.2:c.93+10365… NM_001256752.2:c.93+10365CA[7]	N/A	Intron Variant
PEX5L transcript variant 5	NM_001256753.2:c.22-73445… NM_001256753.2:c.22-73445CA[7]	N/A	Intron Variant
PEX5L transcript variant 6	NM_001256754.2:c.-37+1036… NM_001256754.2:c.-37+10365CA[7]	N/A	Intron Variant
PEX5L transcript variant 7	NM_001256755.2:c.-37+1036… NM_001256755.2:c.-37+10365CA[7]	N/A	Intron Variant
PEX5L transcript variant 8	NM_001256756.2:c.-379+103… NM_001256756.2:c.-379+10365CA[7]	N/A	Intron Variant
PEX5L transcript variant 9	NM_001349386.2:c.258+1036… NM_001349386.2:c.258+10365CA[7]	N/A	Intron Variant
PEX5L transcript variant 10	NM_001349387.2:c.165+1036… NM_001349387.2:c.165+10365CA[7]	N/A	Intron Variant
PEX5L transcript variant 11	NM_001349388.2:c.165+1036… NM_001349388.2:c.165+10365CA[7]	N/A	Intron Variant
PEX5L transcript variant 12	NM_001349389.2:c.93+10365… NM_001349389.2:c.93+10365CA[7]	N/A	Intron Variant
PEX5L transcript variant 13	NM_001349390.2:c.258+1036… NM_001349390.2:c.258+10365CA[7]	N/A	Intron Variant
PEX5L transcript variant 14	NM_001349391.2:c.258+1036… NM_001349391.2:c.258+10365CA[7]	N/A	Intron Variant
PEX5L transcript variant 15	NM_001349392.2:c.165+1036… NM_001349392.2:c.165+10365CA[7]	N/A	Intron Variant
PEX5L transcript variant 16	NM_001349393.2:c.165+1036… NM_001349393.2:c.165+10365CA[7]	N/A	Intron Variant
PEX5L transcript variant 17	NM_001349394.2:c.165+1036… NM_001349394.2:c.165+10365CA[7]	N/A	Intron Variant
PEX5L transcript variant 18	NM_001349395.2:c.-37+1036… NM_001349395.2:c.-37+10365CA[7]	N/A	Intron Variant
PEX5L transcript variant 19	NM_001349396.2:c.22-60494… NM_001349396.2:c.22-60494CA[7]	N/A	Intron Variant
PEX5L transcript variant 20	NM_001349397.2:c.165+1036… NM_001349397.2:c.165+10365CA[7]	N/A	Intron Variant
PEX5L transcript variant 21	NM_001349398.2:c.22-62983… NM_001349398.2:c.22-62983CA[7]	N/A	Intron Variant
PEX5L transcript variant 22	NM_001349399.2:c.-371-629… NM_001349399.2:c.-371-62983CA[7]	N/A	Intron Variant
PEX5L transcript variant 23	NM_001349401.2:c.-267+753… NM_001349401.2:c.-267+75350CA[7]	N/A	Intron Variant
PEX5L transcript variant 24	NM_001349404.2:c.-72+7535… NM_001349404.2:c.-72+75350CA[7]	N/A	Intron Variant
PEX5L transcript variant 25	NM_001349406.2:c.-267+103… NM_001349406.2:c.-267+10365CA[7]	N/A	Intron Variant
PEX5L transcript variant 26	NM_001349408.2:c.-372+103… NM_001349408.2:c.-372+10365CA[7]	N/A	Intron Variant
PEX5L transcript variant 27	NM_001349409.2:c.-372+103… NM_001349409.2:c.-372+10365CA[7]	N/A	Intron Variant
PEX5L transcript variant 28	NM_001349410.2:c.-184+103… NM_001349410.2:c.-184+10365CA[7]	N/A	Intron Variant
PEX5L transcript variant 1	NM_016559.3:c.93+10365CA[… NM_016559.3:c.93+10365CA[7]	N/A	Intron Variant
PEX5L transcript variant 29	NR_146167.2:n.	N/A	Intron Variant
PEX5L transcript variant X1	XM_024453590.2:c.258+1036… XM_024453590.2:c.258+10365CA[7]	N/A	Intron Variant
PEX5L transcript variant X2	XM_024453591.2:c.165+1036… XM_024453591.2:c.165+10365CA[7]	N/A	Intron Variant
PEX5L transcript variant X3	XM_024453592.2:c.258+1036… XM_024453592.2:c.258+10365CA[7]	N/A	Intron Variant
PEX5L transcript variant X5	XM_024453593.2:c.258+1036… XM_024453593.2:c.258+10365CA[7]	N/A	Intron Variant
PEX5L transcript variant X6	XM_047448297.1:c.93+10365… XM_047448297.1:c.93+10365CA[7]	N/A	Intron Variant
PEX5L transcript variant X7	XM_047448298.1:c.93+10365… XM_047448298.1:c.93+10365CA[7]	N/A	Intron Variant
PEX5L transcript variant X8	XM_047448299.1:c.22-73445… XM_047448299.1:c.22-73445CA[7]	N/A	Intron Variant
PEX5L transcript variant X4	XM_011512888.3:c.	N/A	Genic Upstream Transcript Variant
PEX5L transcript variant X9	XM_011512891.3:c.	N/A	Genic Upstream Transcript Variant

Gene: LOC124909463, uncharacterized LOC124909463 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
LOC124909463 transcript	XR_007096182.1:n.	N/A	Intron Variant

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

Not Reported in ClinVar

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

Placement	(TG)₁₄T=	del(GT)₇	del(GT)₅	del(GT)₄	del(GT)₃	delGTGT	delGT	dupGT	dupGTGT	dup(GT)₃	dup(GT)₄	dup(GT)₅	dup(GT)₆	dup(GT)₇	dup(GT)₈
GRCh38.p14 chr 3	NC_000003.12:g.179961202_179961230=	NC_000003.12:g.179961203GT[7]	NC_000003.12:g.179961203GT[9]	NC_000003.12:g.179961203GT[10]	NC_000003.12:g.179961203GT[11]	NC_000003.12:g.179961203GT[12]	NC_000003.12:g.179961203GT[13]	NC_000003.12:g.179961203GT[15]	NC_000003.12:g.179961203GT[16]	NC_000003.12:g.179961203GT[17]	NC_000003.12:g.179961203GT[18]	NC_000003.12:g.179961203GT[19]	NC_000003.12:g.179961203GT[20]	NC_000003.12:g.179961203GT[21]	NC_000003.12:g.179961203GT[22]
GRCh37.p13 chr 3	NC_000003.11:g.179678990_179679018=	NC_000003.11:g.179678991GT[7]	NC_000003.11:g.179678991GT[9]	NC_000003.11:g.179678991GT[10]	NC_000003.11:g.179678991GT[11]	NC_000003.11:g.179678991GT[12]	NC_000003.11:g.179678991GT[13]	NC_000003.11:g.179678991GT[15]	NC_000003.11:g.179678991GT[16]	NC_000003.11:g.179678991GT[17]	NC_000003.11:g.179678991GT[18]	NC_000003.11:g.179678991GT[19]	NC_000003.11:g.179678991GT[20]	NC_000003.11:g.179678991GT[21]	NC_000003.11:g.179678991GT[22]
PEX5L transcript variant 2	NM_001256750.1:c.22-60467=	NM_001256750.1:c.22-60494CA[7]	NM_001256750.1:c.22-60494CA[9]	NM_001256750.1:c.22-60494CA[10]	NM_001256750.1:c.22-60494CA[11]	NM_001256750.1:c.22-60494CA[12]	NM_001256750.1:c.22-60494CA[13]	NM_001256750.1:c.22-60494CA[15]	NM_001256750.1:c.22-60494CA[16]	NM_001256750.1:c.22-60494CA[17]	NM_001256750.1:c.22-60494CA[18]	NM_001256750.1:c.22-60494CA[19]	NM_001256750.1:c.22-60494CA[20]	NM_001256750.1:c.22-60494CA[21]	NM_001256750.1:c.22-60494CA[22]
PEX5L transcript variant 2	NM_001256750.2:c.22-60467=	NM_001256750.2:c.22-60494CA[7]	NM_001256750.2:c.22-60494CA[9]	NM_001256750.2:c.22-60494CA[10]	NM_001256750.2:c.22-60494CA[11]	NM_001256750.2:c.22-60494CA[12]	NM_001256750.2:c.22-60494CA[13]	NM_001256750.2:c.22-60494CA[15]	NM_001256750.2:c.22-60494CA[16]	NM_001256750.2:c.22-60494CA[17]	NM_001256750.2:c.22-60494CA[18]	NM_001256750.2:c.22-60494CA[19]	NM_001256750.2:c.22-60494CA[20]	NM_001256750.2:c.22-60494CA[21]	NM_001256750.2:c.22-60494CA[22]
PEX5L transcript variant 3	NM_001256751.1:c.22-62956=	NM_001256751.1:c.22-62983CA[7]	NM_001256751.1:c.22-62983CA[9]	NM_001256751.1:c.22-62983CA[10]	NM_001256751.1:c.22-62983CA[11]	NM_001256751.1:c.22-62983CA[12]	NM_001256751.1:c.22-62983CA[13]	NM_001256751.1:c.22-62983CA[15]	NM_001256751.1:c.22-62983CA[16]	NM_001256751.1:c.22-62983CA[17]	NM_001256751.1:c.22-62983CA[18]	NM_001256751.1:c.22-62983CA[19]	NM_001256751.1:c.22-62983CA[20]	NM_001256751.1:c.22-62983CA[21]	NM_001256751.1:c.22-62983CA[22]
PEX5L transcript variant 3	NM_001256751.2:c.22-62956=	NM_001256751.2:c.22-62983CA[7]	NM_001256751.2:c.22-62983CA[9]	NM_001256751.2:c.22-62983CA[10]	NM_001256751.2:c.22-62983CA[11]	NM_001256751.2:c.22-62983CA[12]	NM_001256751.2:c.22-62983CA[13]	NM_001256751.2:c.22-62983CA[15]	NM_001256751.2:c.22-62983CA[16]	NM_001256751.2:c.22-62983CA[17]	NM_001256751.2:c.22-62983CA[18]	NM_001256751.2:c.22-62983CA[19]	NM_001256751.2:c.22-62983CA[20]	NM_001256751.2:c.22-62983CA[21]	NM_001256751.2:c.22-62983CA[22]
PEX5L transcript variant 4	NM_001256752.1:c.93+10392=	NM_001256752.1:c.93+10365CA[7]	NM_001256752.1:c.93+10365CA[9]	NM_001256752.1:c.93+10365CA[10]	NM_001256752.1:c.93+10365CA[11]	NM_001256752.1:c.93+10365CA[12]	NM_001256752.1:c.93+10365CA[13]	NM_001256752.1:c.93+10365CA[15]	NM_001256752.1:c.93+10365CA[16]	NM_001256752.1:c.93+10365CA[17]	NM_001256752.1:c.93+10365CA[18]	NM_001256752.1:c.93+10365CA[19]	NM_001256752.1:c.93+10365CA[20]	NM_001256752.1:c.93+10365CA[21]	NM_001256752.1:c.93+10365CA[22]
PEX5L transcript variant 4	NM_001256752.2:c.93+10392=	NM_001256752.2:c.93+10365CA[7]	NM_001256752.2:c.93+10365CA[9]	NM_001256752.2:c.93+10365CA[10]	NM_001256752.2:c.93+10365CA[11]	NM_001256752.2:c.93+10365CA[12]	NM_001256752.2:c.93+10365CA[13]	NM_001256752.2:c.93+10365CA[15]	NM_001256752.2:c.93+10365CA[16]	NM_001256752.2:c.93+10365CA[17]	NM_001256752.2:c.93+10365CA[18]	NM_001256752.2:c.93+10365CA[19]	NM_001256752.2:c.93+10365CA[20]	NM_001256752.2:c.93+10365CA[21]	NM_001256752.2:c.93+10365CA[22]
PEX5L transcript variant 5	NM_001256753.1:c.22-73418=	NM_001256753.1:c.22-73445CA[7]	NM_001256753.1:c.22-73445CA[9]	NM_001256753.1:c.22-73445CA[10]	NM_001256753.1:c.22-73445CA[11]	NM_001256753.1:c.22-73445CA[12]	NM_001256753.1:c.22-73445CA[13]	NM_001256753.1:c.22-73445CA[15]	NM_001256753.1:c.22-73445CA[16]	NM_001256753.1:c.22-73445CA[17]	NM_001256753.1:c.22-73445CA[18]	NM_001256753.1:c.22-73445CA[19]	NM_001256753.1:c.22-73445CA[20]	NM_001256753.1:c.22-73445CA[21]	NM_001256753.1:c.22-73445CA[22]
PEX5L transcript variant 5	NM_001256753.2:c.22-73418=	NM_001256753.2:c.22-73445CA[7]	NM_001256753.2:c.22-73445CA[9]	NM_001256753.2:c.22-73445CA[10]	NM_001256753.2:c.22-73445CA[11]	NM_001256753.2:c.22-73445CA[12]	NM_001256753.2:c.22-73445CA[13]	NM_001256753.2:c.22-73445CA[15]	NM_001256753.2:c.22-73445CA[16]	NM_001256753.2:c.22-73445CA[17]	NM_001256753.2:c.22-73445CA[18]	NM_001256753.2:c.22-73445CA[19]	NM_001256753.2:c.22-73445CA[20]	NM_001256753.2:c.22-73445CA[21]	NM_001256753.2:c.22-73445CA[22]
PEX5L transcript variant 6	NM_001256754.1:c.-37+10392=	NM_001256754.1:c.-37+10365CA[7]	NM_001256754.1:c.-37+10365CA[9]	NM_001256754.1:c.-37+10365CA[10]	NM_001256754.1:c.-37+10365CA[11]	NM_001256754.1:c.-37+10365CA[12]	NM_001256754.1:c.-37+10365CA[13]	NM_001256754.1:c.-37+10365CA[15]	NM_001256754.1:c.-37+10365CA[16]	NM_001256754.1:c.-37+10365CA[17]	NM_001256754.1:c.-37+10365CA[18]	NM_001256754.1:c.-37+10365CA[19]	NM_001256754.1:c.-37+10365CA[20]	NM_001256754.1:c.-37+10365CA[21]	NM_001256754.1:c.-37+10365CA[22]
PEX5L transcript variant 6	NM_001256754.2:c.-37+10392=	NM_001256754.2:c.-37+10365CA[7]	NM_001256754.2:c.-37+10365CA[9]	NM_001256754.2:c.-37+10365CA[10]	NM_001256754.2:c.-37+10365CA[11]	NM_001256754.2:c.-37+10365CA[12]	NM_001256754.2:c.-37+10365CA[13]	NM_001256754.2:c.-37+10365CA[15]	NM_001256754.2:c.-37+10365CA[16]	NM_001256754.2:c.-37+10365CA[17]	NM_001256754.2:c.-37+10365CA[18]	NM_001256754.2:c.-37+10365CA[19]	NM_001256754.2:c.-37+10365CA[20]	NM_001256754.2:c.-37+10365CA[21]	NM_001256754.2:c.-37+10365CA[22]
PEX5L transcript variant 7	NM_001256755.1:c.-37+10392=	NM_001256755.1:c.-37+10365CA[7]	NM_001256755.1:c.-37+10365CA[9]	NM_001256755.1:c.-37+10365CA[10]	NM_001256755.1:c.-37+10365CA[11]	NM_001256755.1:c.-37+10365CA[12]	NM_001256755.1:c.-37+10365CA[13]	NM_001256755.1:c.-37+10365CA[15]	NM_001256755.1:c.-37+10365CA[16]	NM_001256755.1:c.-37+10365CA[17]	NM_001256755.1:c.-37+10365CA[18]	NM_001256755.1:c.-37+10365CA[19]	NM_001256755.1:c.-37+10365CA[20]	NM_001256755.1:c.-37+10365CA[21]	NM_001256755.1:c.-37+10365CA[22]
PEX5L transcript variant 7	NM_001256755.2:c.-37+10392=	NM_001256755.2:c.-37+10365CA[7]	NM_001256755.2:c.-37+10365CA[9]	NM_001256755.2:c.-37+10365CA[10]	NM_001256755.2:c.-37+10365CA[11]	NM_001256755.2:c.-37+10365CA[12]	NM_001256755.2:c.-37+10365CA[13]	NM_001256755.2:c.-37+10365CA[15]	NM_001256755.2:c.-37+10365CA[16]	NM_001256755.2:c.-37+10365CA[17]	NM_001256755.2:c.-37+10365CA[18]	NM_001256755.2:c.-37+10365CA[19]	NM_001256755.2:c.-37+10365CA[20]	NM_001256755.2:c.-37+10365CA[21]	NM_001256755.2:c.-37+10365CA[22]
PEX5L transcript variant 8	NM_001256756.1:c.-379+10392=	NM_001256756.1:c.-379+10365CA[7]	NM_001256756.1:c.-379+10365CA[9]	NM_001256756.1:c.-379+10365CA[10]	NM_001256756.1:c.-379+10365CA[11]	NM_001256756.1:c.-379+10365CA[12]	NM_001256756.1:c.-379+10365CA[13]	NM_001256756.1:c.-379+10365CA[15]	NM_001256756.1:c.-379+10365CA[16]	NM_001256756.1:c.-379+10365CA[17]	NM_001256756.1:c.-379+10365CA[18]	NM_001256756.1:c.-379+10365CA[19]	NM_001256756.1:c.-379+10365CA[20]	NM_001256756.1:c.-379+10365CA[21]	NM_001256756.1:c.-379+10365CA[22]
PEX5L transcript variant 8	NM_001256756.2:c.-379+10392=	NM_001256756.2:c.-379+10365CA[7]	NM_001256756.2:c.-379+10365CA[9]	NM_001256756.2:c.-379+10365CA[10]	NM_001256756.2:c.-379+10365CA[11]	NM_001256756.2:c.-379+10365CA[12]	NM_001256756.2:c.-379+10365CA[13]	NM_001256756.2:c.-379+10365CA[15]	NM_001256756.2:c.-379+10365CA[16]	NM_001256756.2:c.-379+10365CA[17]	NM_001256756.2:c.-379+10365CA[18]	NM_001256756.2:c.-379+10365CA[19]	NM_001256756.2:c.-379+10365CA[20]	NM_001256756.2:c.-379+10365CA[21]	NM_001256756.2:c.-379+10365CA[22]
PEX5L transcript variant 9	NM_001349386.2:c.258+10392=	NM_001349386.2:c.258+10365CA[7]	NM_001349386.2:c.258+10365CA[9]	NM_001349386.2:c.258+10365CA[10]	NM_001349386.2:c.258+10365CA[11]	NM_001349386.2:c.258+10365CA[12]	NM_001349386.2:c.258+10365CA[13]	NM_001349386.2:c.258+10365CA[15]	NM_001349386.2:c.258+10365CA[16]	NM_001349386.2:c.258+10365CA[17]	NM_001349386.2:c.258+10365CA[18]	NM_001349386.2:c.258+10365CA[19]	NM_001349386.2:c.258+10365CA[20]	NM_001349386.2:c.258+10365CA[21]	NM_001349386.2:c.258+10365CA[22]
PEX5L transcript variant 10	NM_001349387.2:c.165+10392=	NM_001349387.2:c.165+10365CA[7]	NM_001349387.2:c.165+10365CA[9]	NM_001349387.2:c.165+10365CA[10]	NM_001349387.2:c.165+10365CA[11]	NM_001349387.2:c.165+10365CA[12]	NM_001349387.2:c.165+10365CA[13]	NM_001349387.2:c.165+10365CA[15]	NM_001349387.2:c.165+10365CA[16]	NM_001349387.2:c.165+10365CA[17]	NM_001349387.2:c.165+10365CA[18]	NM_001349387.2:c.165+10365CA[19]	NM_001349387.2:c.165+10365CA[20]	NM_001349387.2:c.165+10365CA[21]	NM_001349387.2:c.165+10365CA[22]
PEX5L transcript variant 11	NM_001349388.2:c.165+10392=	NM_001349388.2:c.165+10365CA[7]	NM_001349388.2:c.165+10365CA[9]	NM_001349388.2:c.165+10365CA[10]	NM_001349388.2:c.165+10365CA[11]	NM_001349388.2:c.165+10365CA[12]	NM_001349388.2:c.165+10365CA[13]	NM_001349388.2:c.165+10365CA[15]	NM_001349388.2:c.165+10365CA[16]	NM_001349388.2:c.165+10365CA[17]	NM_001349388.2:c.165+10365CA[18]	NM_001349388.2:c.165+10365CA[19]	NM_001349388.2:c.165+10365CA[20]	NM_001349388.2:c.165+10365CA[21]	NM_001349388.2:c.165+10365CA[22]
PEX5L transcript variant 12	NM_001349389.2:c.93+10392=	NM_001349389.2:c.93+10365CA[7]	NM_001349389.2:c.93+10365CA[9]	NM_001349389.2:c.93+10365CA[10]	NM_001349389.2:c.93+10365CA[11]	NM_001349389.2:c.93+10365CA[12]	NM_001349389.2:c.93+10365CA[13]	NM_001349389.2:c.93+10365CA[15]	NM_001349389.2:c.93+10365CA[16]	NM_001349389.2:c.93+10365CA[17]	NM_001349389.2:c.93+10365CA[18]	NM_001349389.2:c.93+10365CA[19]	NM_001349389.2:c.93+10365CA[20]	NM_001349389.2:c.93+10365CA[21]	NM_001349389.2:c.93+10365CA[22]
PEX5L transcript variant 13	NM_001349390.2:c.258+10392=	NM_001349390.2:c.258+10365CA[7]	NM_001349390.2:c.258+10365CA[9]	NM_001349390.2:c.258+10365CA[10]	NM_001349390.2:c.258+10365CA[11]	NM_001349390.2:c.258+10365CA[12]	NM_001349390.2:c.258+10365CA[13]	NM_001349390.2:c.258+10365CA[15]	NM_001349390.2:c.258+10365CA[16]	NM_001349390.2:c.258+10365CA[17]	NM_001349390.2:c.258+10365CA[18]	NM_001349390.2:c.258+10365CA[19]	NM_001349390.2:c.258+10365CA[20]	NM_001349390.2:c.258+10365CA[21]	NM_001349390.2:c.258+10365CA[22]
PEX5L transcript variant 14	NM_001349391.2:c.258+10392=	NM_001349391.2:c.258+10365CA[7]	NM_001349391.2:c.258+10365CA[9]	NM_001349391.2:c.258+10365CA[10]	NM_001349391.2:c.258+10365CA[11]	NM_001349391.2:c.258+10365CA[12]	NM_001349391.2:c.258+10365CA[13]	NM_001349391.2:c.258+10365CA[15]	NM_001349391.2:c.258+10365CA[16]	NM_001349391.2:c.258+10365CA[17]	NM_001349391.2:c.258+10365CA[18]	NM_001349391.2:c.258+10365CA[19]	NM_001349391.2:c.258+10365CA[20]	NM_001349391.2:c.258+10365CA[21]	NM_001349391.2:c.258+10365CA[22]
PEX5L transcript variant 15	NM_001349392.2:c.165+10392=	NM_001349392.2:c.165+10365CA[7]	NM_001349392.2:c.165+10365CA[9]	NM_001349392.2:c.165+10365CA[10]	NM_001349392.2:c.165+10365CA[11]	NM_001349392.2:c.165+10365CA[12]	NM_001349392.2:c.165+10365CA[13]	NM_001349392.2:c.165+10365CA[15]	NM_001349392.2:c.165+10365CA[16]	NM_001349392.2:c.165+10365CA[17]	NM_001349392.2:c.165+10365CA[18]	NM_001349392.2:c.165+10365CA[19]	NM_001349392.2:c.165+10365CA[20]	NM_001349392.2:c.165+10365CA[21]	NM_001349392.2:c.165+10365CA[22]
PEX5L transcript variant 16	NM_001349393.2:c.165+10392=	NM_001349393.2:c.165+10365CA[7]	NM_001349393.2:c.165+10365CA[9]	NM_001349393.2:c.165+10365CA[10]	NM_001349393.2:c.165+10365CA[11]	NM_001349393.2:c.165+10365CA[12]	NM_001349393.2:c.165+10365CA[13]	NM_001349393.2:c.165+10365CA[15]	NM_001349393.2:c.165+10365CA[16]	NM_001349393.2:c.165+10365CA[17]	NM_001349393.2:c.165+10365CA[18]	NM_001349393.2:c.165+10365CA[19]	NM_001349393.2:c.165+10365CA[20]	NM_001349393.2:c.165+10365CA[21]	NM_001349393.2:c.165+10365CA[22]
PEX5L transcript variant 17	NM_001349394.2:c.165+10392=	NM_001349394.2:c.165+10365CA[7]	NM_001349394.2:c.165+10365CA[9]	NM_001349394.2:c.165+10365CA[10]	NM_001349394.2:c.165+10365CA[11]	NM_001349394.2:c.165+10365CA[12]	NM_001349394.2:c.165+10365CA[13]	NM_001349394.2:c.165+10365CA[15]	NM_001349394.2:c.165+10365CA[16]	NM_001349394.2:c.165+10365CA[17]	NM_001349394.2:c.165+10365CA[18]	NM_001349394.2:c.165+10365CA[19]	NM_001349394.2:c.165+10365CA[20]	NM_001349394.2:c.165+10365CA[21]	NM_001349394.2:c.165+10365CA[22]
PEX5L transcript variant 18	NM_001349395.2:c.-37+10392=	NM_001349395.2:c.-37+10365CA[7]	NM_001349395.2:c.-37+10365CA[9]	NM_001349395.2:c.-37+10365CA[10]	NM_001349395.2:c.-37+10365CA[11]	NM_001349395.2:c.-37+10365CA[12]	NM_001349395.2:c.-37+10365CA[13]	NM_001349395.2:c.-37+10365CA[15]	NM_001349395.2:c.-37+10365CA[16]	NM_001349395.2:c.-37+10365CA[17]	NM_001349395.2:c.-37+10365CA[18]	NM_001349395.2:c.-37+10365CA[19]	NM_001349395.2:c.-37+10365CA[20]	NM_001349395.2:c.-37+10365CA[21]	NM_001349395.2:c.-37+10365CA[22]
PEX5L transcript variant 19	NM_001349396.2:c.22-60467=	NM_001349396.2:c.22-60494CA[7]	NM_001349396.2:c.22-60494CA[9]	NM_001349396.2:c.22-60494CA[10]	NM_001349396.2:c.22-60494CA[11]	NM_001349396.2:c.22-60494CA[12]	NM_001349396.2:c.22-60494CA[13]	NM_001349396.2:c.22-60494CA[15]	NM_001349396.2:c.22-60494CA[16]	NM_001349396.2:c.22-60494CA[17]	NM_001349396.2:c.22-60494CA[18]	NM_001349396.2:c.22-60494CA[19]	NM_001349396.2:c.22-60494CA[20]	NM_001349396.2:c.22-60494CA[21]	NM_001349396.2:c.22-60494CA[22]
PEX5L transcript variant 20	NM_001349397.2:c.165+10392=	NM_001349397.2:c.165+10365CA[7]	NM_001349397.2:c.165+10365CA[9]	NM_001349397.2:c.165+10365CA[10]	NM_001349397.2:c.165+10365CA[11]	NM_001349397.2:c.165+10365CA[12]	NM_001349397.2:c.165+10365CA[13]	NM_001349397.2:c.165+10365CA[15]	NM_001349397.2:c.165+10365CA[16]	NM_001349397.2:c.165+10365CA[17]	NM_001349397.2:c.165+10365CA[18]	NM_001349397.2:c.165+10365CA[19]	NM_001349397.2:c.165+10365CA[20]	NM_001349397.2:c.165+10365CA[21]	NM_001349397.2:c.165+10365CA[22]
PEX5L transcript variant 21	NM_001349398.2:c.22-62956=	NM_001349398.2:c.22-62983CA[7]	NM_001349398.2:c.22-62983CA[9]	NM_001349398.2:c.22-62983CA[10]	NM_001349398.2:c.22-62983CA[11]	NM_001349398.2:c.22-62983CA[12]	NM_001349398.2:c.22-62983CA[13]	NM_001349398.2:c.22-62983CA[15]	NM_001349398.2:c.22-62983CA[16]	NM_001349398.2:c.22-62983CA[17]	NM_001349398.2:c.22-62983CA[18]	NM_001349398.2:c.22-62983CA[19]	NM_001349398.2:c.22-62983CA[20]	NM_001349398.2:c.22-62983CA[21]	NM_001349398.2:c.22-62983CA[22]
PEX5L transcript variant 22	NM_001349399.2:c.-371-62956=	NM_001349399.2:c.-371-62983CA[7]	NM_001349399.2:c.-371-62983CA[9]	NM_001349399.2:c.-371-62983CA[10]	NM_001349399.2:c.-371-62983CA[11]	NM_001349399.2:c.-371-62983CA[12]	NM_001349399.2:c.-371-62983CA[13]	NM_001349399.2:c.-371-62983CA[15]	NM_001349399.2:c.-371-62983CA[16]	NM_001349399.2:c.-371-62983CA[17]	NM_001349399.2:c.-371-62983CA[18]	NM_001349399.2:c.-371-62983CA[19]	NM_001349399.2:c.-371-62983CA[20]	NM_001349399.2:c.-371-62983CA[21]	NM_001349399.2:c.-371-62983CA[22]
PEX5L transcript variant 23	NM_001349401.2:c.-267+75377=	NM_001349401.2:c.-267+75350CA[7]	NM_001349401.2:c.-267+75350CA[9]	NM_001349401.2:c.-267+75350CA[10]	NM_001349401.2:c.-267+75350CA[11]	NM_001349401.2:c.-267+75350CA[12]	NM_001349401.2:c.-267+75350CA[13]	NM_001349401.2:c.-267+75350CA[15]	NM_001349401.2:c.-267+75350CA[16]	NM_001349401.2:c.-267+75350CA[17]	NM_001349401.2:c.-267+75350CA[18]	NM_001349401.2:c.-267+75350CA[19]	NM_001349401.2:c.-267+75350CA[20]	NM_001349401.2:c.-267+75350CA[21]	NM_001349401.2:c.-267+75350CA[22]
PEX5L transcript variant 24	NM_001349404.2:c.-72+75377=	NM_001349404.2:c.-72+75350CA[7]	NM_001349404.2:c.-72+75350CA[9]	NM_001349404.2:c.-72+75350CA[10]	NM_001349404.2:c.-72+75350CA[11]	NM_001349404.2:c.-72+75350CA[12]	NM_001349404.2:c.-72+75350CA[13]	NM_001349404.2:c.-72+75350CA[15]	NM_001349404.2:c.-72+75350CA[16]	NM_001349404.2:c.-72+75350CA[17]	NM_001349404.2:c.-72+75350CA[18]	NM_001349404.2:c.-72+75350CA[19]	NM_001349404.2:c.-72+75350CA[20]	NM_001349404.2:c.-72+75350CA[21]	NM_001349404.2:c.-72+75350CA[22]
PEX5L transcript variant 25	NM_001349406.2:c.-267+10392=	NM_001349406.2:c.-267+10365CA[7]	NM_001349406.2:c.-267+10365CA[9]	NM_001349406.2:c.-267+10365CA[10]	NM_001349406.2:c.-267+10365CA[11]	NM_001349406.2:c.-267+10365CA[12]	NM_001349406.2:c.-267+10365CA[13]	NM_001349406.2:c.-267+10365CA[15]	NM_001349406.2:c.-267+10365CA[16]	NM_001349406.2:c.-267+10365CA[17]	NM_001349406.2:c.-267+10365CA[18]	NM_001349406.2:c.-267+10365CA[19]	NM_001349406.2:c.-267+10365CA[20]	NM_001349406.2:c.-267+10365CA[21]	NM_001349406.2:c.-267+10365CA[22]
PEX5L transcript variant 26	NM_001349408.2:c.-372+10392=	NM_001349408.2:c.-372+10365CA[7]	NM_001349408.2:c.-372+10365CA[9]	NM_001349408.2:c.-372+10365CA[10]	NM_001349408.2:c.-372+10365CA[11]	NM_001349408.2:c.-372+10365CA[12]	NM_001349408.2:c.-372+10365CA[13]	NM_001349408.2:c.-372+10365CA[15]	NM_001349408.2:c.-372+10365CA[16]	NM_001349408.2:c.-372+10365CA[17]	NM_001349408.2:c.-372+10365CA[18]	NM_001349408.2:c.-372+10365CA[19]	NM_001349408.2:c.-372+10365CA[20]	NM_001349408.2:c.-372+10365CA[21]	NM_001349408.2:c.-372+10365CA[22]
PEX5L transcript variant 27	NM_001349409.2:c.-372+10392=	NM_001349409.2:c.-372+10365CA[7]	NM_001349409.2:c.-372+10365CA[9]	NM_001349409.2:c.-372+10365CA[10]	NM_001349409.2:c.-372+10365CA[11]	NM_001349409.2:c.-372+10365CA[12]	NM_001349409.2:c.-372+10365CA[13]	NM_001349409.2:c.-372+10365CA[15]	NM_001349409.2:c.-372+10365CA[16]	NM_001349409.2:c.-372+10365CA[17]	NM_001349409.2:c.-372+10365CA[18]	NM_001349409.2:c.-372+10365CA[19]	NM_001349409.2:c.-372+10365CA[20]	NM_001349409.2:c.-372+10365CA[21]	NM_001349409.2:c.-372+10365CA[22]
PEX5L transcript variant 28	NM_001349410.2:c.-184+10392=	NM_001349410.2:c.-184+10365CA[7]	NM_001349410.2:c.-184+10365CA[9]	NM_001349410.2:c.-184+10365CA[10]	NM_001349410.2:c.-184+10365CA[11]	NM_001349410.2:c.-184+10365CA[12]	NM_001349410.2:c.-184+10365CA[13]	NM_001349410.2:c.-184+10365CA[15]	NM_001349410.2:c.-184+10365CA[16]	NM_001349410.2:c.-184+10365CA[17]	NM_001349410.2:c.-184+10365CA[18]	NM_001349410.2:c.-184+10365CA[19]	NM_001349410.2:c.-184+10365CA[20]	NM_001349410.2:c.-184+10365CA[21]	NM_001349410.2:c.-184+10365CA[22]
PEX5L transcript variant 1	NM_016559.2:c.93+10392=	NM_016559.2:c.93+10365CA[7]	NM_016559.2:c.93+10365CA[9]	NM_016559.2:c.93+10365CA[10]	NM_016559.2:c.93+10365CA[11]	NM_016559.2:c.93+10365CA[12]	NM_016559.2:c.93+10365CA[13]	NM_016559.2:c.93+10365CA[15]	NM_016559.2:c.93+10365CA[16]	NM_016559.2:c.93+10365CA[17]	NM_016559.2:c.93+10365CA[18]	NM_016559.2:c.93+10365CA[19]	NM_016559.2:c.93+10365CA[20]	NM_016559.2:c.93+10365CA[21]	NM_016559.2:c.93+10365CA[22]
PEX5L transcript variant 1	NM_016559.3:c.93+10392=	NM_016559.3:c.93+10365CA[7]	NM_016559.3:c.93+10365CA[9]	NM_016559.3:c.93+10365CA[10]	NM_016559.3:c.93+10365CA[11]	NM_016559.3:c.93+10365CA[12]	NM_016559.3:c.93+10365CA[13]	NM_016559.3:c.93+10365CA[15]	NM_016559.3:c.93+10365CA[16]	NM_016559.3:c.93+10365CA[17]	NM_016559.3:c.93+10365CA[18]	NM_016559.3:c.93+10365CA[19]	NM_016559.3:c.93+10365CA[20]	NM_016559.3:c.93+10365CA[21]	NM_016559.3:c.93+10365CA[22]
PEX5L transcript variant X1	XM_005247523.1:c.165+10392=	XM_005247523.1:c.165+10365CA[7]	XM_005247523.1:c.165+10365CA[9]	XM_005247523.1:c.165+10365CA[10]	XM_005247523.1:c.165+10365CA[11]	XM_005247523.1:c.165+10365CA[12]	XM_005247523.1:c.165+10365CA[13]	XM_005247523.1:c.165+10365CA[15]	XM_005247523.1:c.165+10365CA[16]	XM_005247523.1:c.165+10365CA[17]	XM_005247523.1:c.165+10365CA[18]	XM_005247523.1:c.165+10365CA[19]	XM_005247523.1:c.165+10365CA[20]	XM_005247523.1:c.165+10365CA[21]	XM_005247523.1:c.165+10365CA[22]
PEX5L transcript variant X2	XM_005247524.1:c.165+10392=	XM_005247524.1:c.165+10365CA[7]	XM_005247524.1:c.165+10365CA[9]	XM_005247524.1:c.165+10365CA[10]	XM_005247524.1:c.165+10365CA[11]	XM_005247524.1:c.165+10365CA[12]	XM_005247524.1:c.165+10365CA[13]	XM_005247524.1:c.165+10365CA[15]	XM_005247524.1:c.165+10365CA[16]	XM_005247524.1:c.165+10365CA[17]	XM_005247524.1:c.165+10365CA[18]	XM_005247524.1:c.165+10365CA[19]	XM_005247524.1:c.165+10365CA[20]	XM_005247524.1:c.165+10365CA[21]	XM_005247524.1:c.165+10365CA[22]
PEX5L transcript variant X3	XM_005247525.1:c.165+10392=	XM_005247525.1:c.165+10365CA[7]	XM_005247525.1:c.165+10365CA[9]	XM_005247525.1:c.165+10365CA[10]	XM_005247525.1:c.165+10365CA[11]	XM_005247525.1:c.165+10365CA[12]	XM_005247525.1:c.165+10365CA[13]	XM_005247525.1:c.165+10365CA[15]	XM_005247525.1:c.165+10365CA[16]	XM_005247525.1:c.165+10365CA[17]	XM_005247525.1:c.165+10365CA[18]	XM_005247525.1:c.165+10365CA[19]	XM_005247525.1:c.165+10365CA[20]	XM_005247525.1:c.165+10365CA[21]	XM_005247525.1:c.165+10365CA[22]
PEX5L transcript variant X1	XM_024453590.2:c.258+10392=	XM_024453590.2:c.258+10365CA[7]	XM_024453590.2:c.258+10365CA[9]	XM_024453590.2:c.258+10365CA[10]	XM_024453590.2:c.258+10365CA[11]	XM_024453590.2:c.258+10365CA[12]	XM_024453590.2:c.258+10365CA[13]	XM_024453590.2:c.258+10365CA[15]	XM_024453590.2:c.258+10365CA[16]	XM_024453590.2:c.258+10365CA[17]	XM_024453590.2:c.258+10365CA[18]	XM_024453590.2:c.258+10365CA[19]	XM_024453590.2:c.258+10365CA[20]	XM_024453590.2:c.258+10365CA[21]	XM_024453590.2:c.258+10365CA[22]
PEX5L transcript variant X2	XM_024453591.2:c.165+10392=	XM_024453591.2:c.165+10365CA[7]	XM_024453591.2:c.165+10365CA[9]	XM_024453591.2:c.165+10365CA[10]	XM_024453591.2:c.165+10365CA[11]	XM_024453591.2:c.165+10365CA[12]	XM_024453591.2:c.165+10365CA[13]	XM_024453591.2:c.165+10365CA[15]	XM_024453591.2:c.165+10365CA[16]	XM_024453591.2:c.165+10365CA[17]	XM_024453591.2:c.165+10365CA[18]	XM_024453591.2:c.165+10365CA[19]	XM_024453591.2:c.165+10365CA[20]	XM_024453591.2:c.165+10365CA[21]	XM_024453591.2:c.165+10365CA[22]
PEX5L transcript variant X3	XM_024453592.2:c.258+10392=	XM_024453592.2:c.258+10365CA[7]	XM_024453592.2:c.258+10365CA[9]	XM_024453592.2:c.258+10365CA[10]	XM_024453592.2:c.258+10365CA[11]	XM_024453592.2:c.258+10365CA[12]	XM_024453592.2:c.258+10365CA[13]	XM_024453592.2:c.258+10365CA[15]	XM_024453592.2:c.258+10365CA[16]	XM_024453592.2:c.258+10365CA[17]	XM_024453592.2:c.258+10365CA[18]	XM_024453592.2:c.258+10365CA[19]	XM_024453592.2:c.258+10365CA[20]	XM_024453592.2:c.258+10365CA[21]	XM_024453592.2:c.258+10365CA[22]
PEX5L transcript variant X5	XM_024453593.2:c.258+10392=	XM_024453593.2:c.258+10365CA[7]	XM_024453593.2:c.258+10365CA[9]	XM_024453593.2:c.258+10365CA[10]	XM_024453593.2:c.258+10365CA[11]	XM_024453593.2:c.258+10365CA[12]	XM_024453593.2:c.258+10365CA[13]	XM_024453593.2:c.258+10365CA[15]	XM_024453593.2:c.258+10365CA[16]	XM_024453593.2:c.258+10365CA[17]	XM_024453593.2:c.258+10365CA[18]	XM_024453593.2:c.258+10365CA[19]	XM_024453593.2:c.258+10365CA[20]	XM_024453593.2:c.258+10365CA[21]	XM_024453593.2:c.258+10365CA[22]
PEX5L transcript variant X6	XM_047448297.1:c.93+10392=	XM_047448297.1:c.93+10365CA[7]	XM_047448297.1:c.93+10365CA[9]	XM_047448297.1:c.93+10365CA[10]	XM_047448297.1:c.93+10365CA[11]	XM_047448297.1:c.93+10365CA[12]	XM_047448297.1:c.93+10365CA[13]	XM_047448297.1:c.93+10365CA[15]	XM_047448297.1:c.93+10365CA[16]	XM_047448297.1:c.93+10365CA[17]	XM_047448297.1:c.93+10365CA[18]	XM_047448297.1:c.93+10365CA[19]	XM_047448297.1:c.93+10365CA[20]	XM_047448297.1:c.93+10365CA[21]	XM_047448297.1:c.93+10365CA[22]
PEX5L transcript variant X7	XM_047448298.1:c.93+10392=	XM_047448298.1:c.93+10365CA[7]	XM_047448298.1:c.93+10365CA[9]	XM_047448298.1:c.93+10365CA[10]	XM_047448298.1:c.93+10365CA[11]	XM_047448298.1:c.93+10365CA[12]	XM_047448298.1:c.93+10365CA[13]	XM_047448298.1:c.93+10365CA[15]	XM_047448298.1:c.93+10365CA[16]	XM_047448298.1:c.93+10365CA[17]	XM_047448298.1:c.93+10365CA[18]	XM_047448298.1:c.93+10365CA[19]	XM_047448298.1:c.93+10365CA[20]	XM_047448298.1:c.93+10365CA[21]	XM_047448298.1:c.93+10365CA[22]
PEX5L transcript variant X8	XM_047448299.1:c.22-73418=	XM_047448299.1:c.22-73445CA[7]	XM_047448299.1:c.22-73445CA[9]	XM_047448299.1:c.22-73445CA[10]	XM_047448299.1:c.22-73445CA[11]	XM_047448299.1:c.22-73445CA[12]	XM_047448299.1:c.22-73445CA[13]	XM_047448299.1:c.22-73445CA[15]	XM_047448299.1:c.22-73445CA[16]	XM_047448299.1:c.22-73445CA[17]	XM_047448299.1:c.22-73445CA[18]	XM_047448299.1:c.22-73445CA[19]	XM_047448299.1:c.22-73445CA[20]	XM_047448299.1:c.22-73445CA[21]	XM_047448299.1:c.22-73445CA[22]

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#.

44 SubSNP, 21 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss41914974	Mar 15, 2016 (147)
2	HUMANGENOME_JCVI	ss95340221	Mar 15, 2016 (147)
3	PJP	ss295142315	May 09, 2011 (135)
4	PJP	ss295142316	Aug 21, 2014 (142)
5	BILGI_BIOE	ss666238398	Apr 25, 2013 (138)
6	EVA_GENOME_DK	ss1576108516	Apr 01, 2015 (144)
7	JJLAB	ss2030564896	Sep 14, 2016 (149)
8	MCHAISSO	ss3065921600	Jan 10, 2018 (151)
9	URBANLAB	ss3647599048	Oct 12, 2018 (152)
10	EVA_DECODE	ss3710940504	Jul 13, 2019 (153)
11	EVA_DECODE	ss3710940505	Jul 13, 2019 (153)
12	EVA_DECODE	ss3710940506	Jul 13, 2019 (153)
13	EVA_DECODE	ss3710940507	Jul 13, 2019 (153)
14	EVA_DECODE	ss3710940508	Jul 13, 2019 (153)
15	EVA_DECODE	ss3710940509	Jul 13, 2019 (153)
16	ACPOP	ss3730644927	Jul 13, 2019 (153)
17	PACBIO	ss3784552143	Jul 13, 2019 (153)
18	PACBIO	ss3790031508	Jul 13, 2019 (153)
19	PACBIO	ss3794906202	Jul 13, 2019 (153)
20	EVA	ss3828248032	Apr 25, 2020 (154)
21	KOGIC	ss3953052279	Apr 25, 2020 (154)
22	GNOMAD	ss4086719483	Apr 26, 2021 (155)
23	GNOMAD	ss4086719484	Apr 26, 2021 (155)
24	GNOMAD	ss4086719485	Apr 26, 2021 (155)
25	GNOMAD	ss4086719486	Apr 26, 2021 (155)
26	GNOMAD	ss4086719487	Apr 26, 2021 (155)
27	GNOMAD	ss4086719488	Apr 26, 2021 (155)
28	GNOMAD	ss4086719489	Apr 26, 2021 (155)
29	GNOMAD	ss4086719490	Apr 26, 2021 (155)
30	GNOMAD	ss4086719492	Apr 26, 2021 (155)
31	GNOMAD	ss4086719493	Apr 26, 2021 (155)
32	GNOMAD	ss4086719494	Apr 26, 2021 (155)
33	GNOMAD	ss4086719495	Apr 26, 2021 (155)
34	GNOMAD	ss4086719496	Apr 26, 2021 (155)
35	GNOMAD	ss4086719497	Apr 26, 2021 (155)
36	TOPMED	ss4595398580	Apr 26, 2021 (155)
37	TOMMO_GENOMICS	ss5163105799	Apr 26, 2021 (155)
38	1000G_HIGH_COVERAGE	ss5257205773	Oct 12, 2022 (156)
39	1000G_HIGH_COVERAGE	ss5257205775	Oct 12, 2022 (156)
40	HUGCELL_USP	ss5456232082	Oct 12, 2022 (156)
41	HUGCELL_USP	ss5456232084	Oct 12, 2022 (156)
42	HUGCELL_USP	ss5456232085	Oct 12, 2022 (156)
43	TOMMO_GENOMICS	ss5696418541	Oct 12, 2022 (156)
44	EVA	ss5853983248	Oct 12, 2022 (156)
45	The Danish reference pan genome	NC_000003.11 - 179678990	Apr 25, 2020 (154)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 133683100 (NC_000003.12:179961201::TG 225/62236) Row 133683101 (NC_000003.12:179961201::TGTG 167/62234) Row 133683102 (NC_000003.12:179961201::TGTGTG 2551/62206)...	-	Apr 26, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 133683100 (NC_000003.12:179961201::TG 225/62236) Row 133683101 (NC_000003.12:179961201::TGTG 167/62234) Row 133683102 (NC_000003.12:179961201::TGTGTG 2551/62206)...	-	Apr 26, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 133683100 (NC_000003.12:179961201::TG 225/62236) Row 133683101 (NC_000003.12:179961201::TGTG 167/62234) Row 133683102 (NC_000003.12:179961201::TGTGTG 2551/62206)...	-	Apr 26, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 133683100 (NC_000003.12:179961201::TG 225/62236) Row 133683101 (NC_000003.12:179961201::TGTG 167/62234) Row 133683102 (NC_000003.12:179961201::TGTGTG 2551/62206)...	-	Apr 26, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 133683100 (NC_000003.12:179961201::TG 225/62236) Row 133683101 (NC_000003.12:179961201::TGTG 167/62234) Row 133683102 (NC_000003.12:179961201::TGTGTG 2551/62206)...	-	Apr 26, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 133683100 (NC_000003.12:179961201::TG 225/62236) Row 133683101 (NC_000003.12:179961201::TGTG 167/62234) Row 133683102 (NC_000003.12:179961201::TGTGTG 2551/62206)...	-	Apr 26, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 133683100 (NC_000003.12:179961201::TG 225/62236) Row 133683101 (NC_000003.12:179961201::TGTG 167/62234) Row 133683102 (NC_000003.12:179961201::TGTGTG 2551/62206)...	-	Apr 26, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 133683100 (NC_000003.12:179961201::TG 225/62236) Row 133683101 (NC_000003.12:179961201::TGTG 167/62234) Row 133683102 (NC_000003.12:179961201::TGTGTG 2551/62206)...	-	Apr 26, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 133683100 (NC_000003.12:179961201::TG 225/62236) Row 133683101 (NC_000003.12:179961201::TGTG 167/62234) Row 133683102 (NC_000003.12:179961201::TGTGTG 2551/62206)...	-	Apr 26, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 133683100 (NC_000003.12:179961201::TG 225/62236) Row 133683101 (NC_000003.12:179961201::TGTG 167/62234) Row 133683102 (NC_000003.12:179961201::TGTGTG 2551/62206)...	-	Apr 26, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 133683100 (NC_000003.12:179961201::TG 225/62236) Row 133683101 (NC_000003.12:179961201::TGTG 167/62234) Row 133683102 (NC_000003.12:179961201::TGTGTG 2551/62206)...	-	Apr 26, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 133683100 (NC_000003.12:179961201::TG 225/62236) Row 133683101 (NC_000003.12:179961201::TGTG 167/62234) Row 133683102 (NC_000003.12:179961201::TGTGTG 2551/62206)...	-	Apr 26, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 133683100 (NC_000003.12:179961201::TG 225/62236) Row 133683101 (NC_000003.12:179961201::TGTG 167/62234) Row 133683102 (NC_000003.12:179961201::TGTGTG 2551/62206)...	-	Apr 26, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 133683100 (NC_000003.12:179961201::TG 225/62236) Row 133683101 (NC_000003.12:179961201::TGTG 167/62234) Row 133683102 (NC_000003.12:179961201::TGTGTG 2551/62206)...	-	Apr 26, 2021 (155)
60	Korean Genome Project	NC_000003.12 - 179961206	Apr 25, 2020 (154)
61	Northern Sweden	NC_000003.11 - 179678990	Jul 13, 2019 (153)
62	8.3KJPN	NC_000003.11 - 179678990	Apr 26, 2021 (155)
63	14KJPN	NC_000003.12 - 179961202	Oct 12, 2022 (156)
64	TopMed	NC_000003.12 - 179961202	Apr 26, 2021 (155)
65	ALFA	NC_000003.12 - 179961202	Apr 26, 2021 (155)

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

Associated ID	History Updated (Build)
rs145127503	Sep 17, 2011 (135)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4086719497	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTG:	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT	(self)
7342032131	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT	(self)
ss4086719496	NC_000003.12:179961201:TGTGTGTGTG:	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT	(self)
ss3710940504, ss4086719495	NC_000003.12:179961201:TGTGTGTG:	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT	(self)
7342032131	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT	(self)
ss4086719494	NC_000003.12:179961201:TGTGTG:	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT	(self)
7342032131	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT	(self)
ss3710940505	NC_000003.12:179961203:TGTGTG:	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT	(self)
ss295142315	NC_000003.10:181161683:TGTG:	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss295142316	NC_000003.10:181161708:GTGT:	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT	(self)
877465, 3929792, 21075106, ss666238398, ss1576108516, ss2030564896, ss3730644927, ss3784552143, ss3790031508, ss3794906202, ss3828248032, ss5163105799	NC_000003.11:179678989:TGTG:	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT	(self)
30255645, 432776135, ss4086719493, ss4595398580, ss5456232082, ss5696418541, ss5853983248	NC_000003.12:179961201:TGTG:	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT	(self)
7342032131	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT	(self)
9430280, ss3710940506, ss3953052279	NC_000003.12:179961205:TGTG:	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss3647599048	NC_000003.12:179961225:TGTG:	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss41914974	NT_005612.16:86174159:TGTG:	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss95340221	NT_005612.16:86174160:GTGT:	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss4086719492	NC_000003.12:179961201:TG:	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
7342032131	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss3710940507	NC_000003.12:179961207:TG:	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss41914974	NT_005612.16:86174159:TGTG:TG	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss4086719483	NC_000003.12:179961201::TG	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
7342032131	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss3710940508	NC_000003.12:179961209::TG	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss4086719484, ss5257205773	NC_000003.12:179961201::TGTG	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
7342032131	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss3710940509	NC_000003.12:179961209::TGTG	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss3065921600, ss4086719485, ss5257205775, ss5456232085	NC_000003.12:179961201::TGTGTG	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
7342032131	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss4086719486, ss5456232084	NC_000003.12:179961201::TGTGTGTG	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
7342032131	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss4086719487	NC_000003.12:179961201::TGTGTGTGTG	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
7342032131	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss4086719488	NC_000003.12:179961201::TGTGTGTGTG… NC_000003.12:179961201::TGTGTGTGTGTG	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
7342032131	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss4086719489	NC_000003.12:179961201::TGTGTGTGTG… NC_000003.12:179961201::TGTGTGTGTGTGTG	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
7342032131	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
ss4086719490	NC_000003.12:179961201::TGTGTGTGTG… NC_000003.12:179961201::TGTGTGTGTGTGTGTG	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(self)
7342032131	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	NC_000003.12:179961201:TGTGTGTGTGT… NC_000003.12:179961201:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT	(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 rs72242969

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

rs72242969