Name: rs55885838
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.

rs55885838

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr6:89747891-89747912 (GRCh38.p14) Help
The anchor position for this RefSNP. Includes all nucleotides potentially affected by this change, thus it can differ from HGVS, which is right-shifted. See here for details.
Alleles: del(A)₁₃ / del(A)₁₂ / del(A)₁₁ / d…
del(A)₁₃ / del(A)₁₂ / del(A)₁₁ / del(A)₁₀ / del(A)₈ / del(A)₇ / del(A)₆ / del(A)₅ / del(A)₄ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₄ / dup(A)₅ / dup(A)₆ / dup(A)₈ / ins(A)₂₅ / ins(A)₃₅
Variation Type: Indel Insertion and Deletion
Frequency: (A)₂₂=0.4060 (2033/5008, 1000G)
del(A)₁₃=0.000 (0/198, ALFA)
del(A)₁₂=0.000 (0/198, ALFA) (+ 14 more)
del(A)₁₁=0.000 (0/198, ALFA)
del(A)₁₀=0.000 (0/198, ALFA)
del(A)₈=0.000 (0/198, ALFA)
del(A)₇=0.000 (0/198, ALFA)
delAAA=0.000 (0/198, ALFA)
delAA=0.000 (0/198, ALFA)
delA=0.000 (0/198, ALFA)
dupA=0.000 (0/198, ALFA)
dupAA=0.000 (0/198, ALFA)
dupAAA=0.000 (0/198, ALFA)
dup(A)₄=0.000 (0/198, ALFA)
dup(A)₅=0.000 (0/198, ALFA)
dup(A)₆=0.000 (0/198, ALFA)
(A)₂₂=0.42 (17/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: MDN1 : 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	198	AAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
European	Sub	124	AAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAA=0.000, AAAAAAAAAA=0.000, AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African	Sub	56	AAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African Others	Sub	2	AAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
African American	Sub	54	AAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAA=0, AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
East Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAA=0, AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAA=0, AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 1	Sub	2	AAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 2	Sub	8	AAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
South Asian	Sub	2	AAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Other	Sub	6	AAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A

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

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
1000Genomes	Global	Study-wide	5008	(A)₂₂=0.4060	delA=0.5940
1000Genomes	African	Sub	1322	(A)₂₂=0.3949	delA=0.6051
1000Genomes	East Asian	Sub	1008	(A)₂₂=0.4147	delA=0.5853
1000Genomes	Europe	Sub	1006	(A)₂₂=0.4155	delA=0.5845
1000Genomes	South Asian	Sub	978	(A)₂₂=0.387	delA=0.613
1000Genomes	American	Sub	694	(A)₂₂=0.428	delA=0.572
Allele Frequency Aggregator	Total	Global	198	(A)₂₂=1.000	del(A)₁₃=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₈=0.000, del(A)₇=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000, dup(A)₆=0.000
Allele Frequency Aggregator	European	Sub	124	(A)₂₂=1.000	del(A)₁₃=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₈=0.000, del(A)₇=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₄=0.000, dup(A)₅=0.000, dup(A)₆=0.000
Allele Frequency Aggregator	African	Sub	56	(A)₂₂=1.00	del(A)₁₃=0.00, del(A)₁₂=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₈=0.00, del(A)₇=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00, dup(A)₄=0.00, dup(A)₅=0.00, dup(A)₆=0.00
Allele Frequency Aggregator	Latin American 2	Sub	8	(A)₂₂=1.0	del(A)₁₃=0.0, del(A)₁₂=0.0, del(A)₁₁=0.0, del(A)₁₀=0.0, del(A)₈=0.0, del(A)₇=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)₄=0.0, dup(A)₅=0.0, dup(A)₆=0.0
Allele Frequency Aggregator	Other	Sub	6	(A)₂₂=1.0	del(A)₁₃=0.0, del(A)₁₂=0.0, del(A)₁₁=0.0, del(A)₁₀=0.0, del(A)₈=0.0, del(A)₇=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)₄=0.0, dup(A)₅=0.0, dup(A)₆=0.0
Allele Frequency Aggregator	Latin American 1	Sub	2	(A)₂₂=1.0	del(A)₁₃=0.0, del(A)₁₂=0.0, del(A)₁₁=0.0, del(A)₁₀=0.0, del(A)₈=0.0, del(A)₇=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)₄=0.0, dup(A)₅=0.0, dup(A)₆=0.0
Allele Frequency Aggregator	South Asian	Sub	2	(A)₂₂=1.0	del(A)₁₃=0.0, del(A)₁₂=0.0, del(A)₁₁=0.0, del(A)₁₀=0.0, del(A)₈=0.0, del(A)₇=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0, dup(A)₄=0.0, dup(A)₅=0.0, dup(A)₆=0.0
Allele Frequency Aggregator	Asian	Sub	0	(A)₂₂=0	del(A)₁₃=0, del(A)₁₂=0, del(A)₁₁=0, del(A)₁₀=0, del(A)₈=0, del(A)₇=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0, dup(A)₄=0, dup(A)₅=0, dup(A)₆=0
The Danish reference pan genome	Danish	Study-wide	40	(A)₂₂=0.42	delA=0.57

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 6	NC_000006.12:g.89747900_89747912del
GRCh38.p14 chr 6	NC_000006.12:g.89747901_89747912del
GRCh38.p14 chr 6	NC_000006.12:g.89747902_89747912del
GRCh38.p14 chr 6	NC_000006.12:g.89747903_89747912del
GRCh38.p14 chr 6	NC_000006.12:g.89747905_89747912del
GRCh38.p14 chr 6	NC_000006.12:g.89747906_89747912del
GRCh38.p14 chr 6	NC_000006.12:g.89747907_89747912del
GRCh38.p14 chr 6	NC_000006.12:g.89747908_89747912del
GRCh38.p14 chr 6	NC_000006.12:g.89747909_89747912del
GRCh38.p14 chr 6	NC_000006.12:g.89747910_89747912del
GRCh38.p14 chr 6	NC_000006.12:g.89747911_89747912del
GRCh38.p14 chr 6	NC_000006.12:g.89747912del
GRCh38.p14 chr 6	NC_000006.12:g.89747912dup
GRCh38.p14 chr 6	NC_000006.12:g.89747911_89747912dup
GRCh38.p14 chr 6	NC_000006.12:g.89747910_89747912dup
GRCh38.p14 chr 6	NC_000006.12:g.89747909_89747912dup
GRCh38.p14 chr 6	NC_000006.12:g.89747908_89747912dup
GRCh38.p14 chr 6	NC_000006.12:g.89747907_89747912dup
GRCh38.p14 chr 6	NC_000006.12:g.89747905_89747912dup
GRCh38.p14 chr 6	NC_000006.12:g.89747912_89747913insAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 6	NC_000006.12:g.89747912_89747913insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 6	NC_000006.11:g.90457619_90457631del
GRCh37.p13 chr 6	NC_000006.11:g.90457620_90457631del
GRCh37.p13 chr 6	NC_000006.11:g.90457621_90457631del
GRCh37.p13 chr 6	NC_000006.11:g.90457622_90457631del
GRCh37.p13 chr 6	NC_000006.11:g.90457624_90457631del
GRCh37.p13 chr 6	NC_000006.11:g.90457625_90457631del
GRCh37.p13 chr 6	NC_000006.11:g.90457626_90457631del
GRCh37.p13 chr 6	NC_000006.11:g.90457627_90457631del
GRCh37.p13 chr 6	NC_000006.11:g.90457628_90457631del
GRCh37.p13 chr 6	NC_000006.11:g.90457629_90457631del
GRCh37.p13 chr 6	NC_000006.11:g.90457630_90457631del
GRCh37.p13 chr 6	NC_000006.11:g.90457631del
GRCh37.p13 chr 6	NC_000006.11:g.90457631dup
GRCh37.p13 chr 6	NC_000006.11:g.90457630_90457631dup
GRCh37.p13 chr 6	NC_000006.11:g.90457629_90457631dup
GRCh37.p13 chr 6	NC_000006.11:g.90457628_90457631dup
GRCh37.p13 chr 6	NC_000006.11:g.90457627_90457631dup
GRCh37.p13 chr 6	NC_000006.11:g.90457626_90457631dup
GRCh37.p13 chr 6	NC_000006.11:g.90457624_90457631dup
GRCh37.p13 chr 6	NC_000006.11:g.90457631_90457632insAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 6	NC_000006.11:g.90457631_90457632insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
MDN1 RefSeqGene	NG_034012.1:g.76892_76904del
MDN1 RefSeqGene	NG_034012.1:g.76893_76904del
MDN1 RefSeqGene	NG_034012.1:g.76894_76904del
MDN1 RefSeqGene	NG_034012.1:g.76895_76904del
MDN1 RefSeqGene	NG_034012.1:g.76897_76904del
MDN1 RefSeqGene	NG_034012.1:g.76898_76904del
MDN1 RefSeqGene	NG_034012.1:g.76899_76904del
MDN1 RefSeqGene	NG_034012.1:g.76900_76904del
MDN1 RefSeqGene	NG_034012.1:g.76901_76904del
MDN1 RefSeqGene	NG_034012.1:g.76902_76904del
MDN1 RefSeqGene	NG_034012.1:g.76903_76904del
MDN1 RefSeqGene	NG_034012.1:g.76904del
MDN1 RefSeqGene	NG_034012.1:g.76904dup
MDN1 RefSeqGene	NG_034012.1:g.76903_76904dup
MDN1 RefSeqGene	NG_034012.1:g.76902_76904dup
MDN1 RefSeqGene	NG_034012.1:g.76901_76904dup
MDN1 RefSeqGene	NG_034012.1:g.76900_76904dup
MDN1 RefSeqGene	NG_034012.1:g.76899_76904dup
MDN1 RefSeqGene	NG_034012.1:g.76897_76904dup
MDN1 RefSeqGene	NG_034012.1:g.76904_76905insTTTTTTTTTTTTTTTTTTTTTTTTT
MDN1 RefSeqGene	NG_034012.1:g.76904_76905insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Gene: MDN1, midasin AAA ATPase 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
MDN1 transcript	NM_014611.3:c.3763-433_37… NM_014611.3:c.3763-433_3763-421del	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	(A)₂₂=	del(A)₁₃	del(A)₁₂	del(A)₁₁	del(A)₁₀	del(A)₈	del(A)₇	del(A)₆	del(A)₅	del(A)₄	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₄	dup(A)₅	dup(A)₆	dup(A)₈	ins(A)₂₅	ins(A)₃₅
GRCh38.p14 chr 6	NC_000006.12:g.89747891_89747912=	NC_000006.12:g.89747900_89747912del	NC_000006.12:g.89747901_89747912del	NC_000006.12:g.89747902_89747912del	NC_000006.12:g.89747903_89747912del	NC_000006.12:g.89747905_89747912del	NC_000006.12:g.89747906_89747912del	NC_000006.12:g.89747907_89747912del	NC_000006.12:g.89747908_89747912del	NC_000006.12:g.89747909_89747912del	NC_000006.12:g.89747910_89747912del	NC_000006.12:g.89747911_89747912del	NC_000006.12:g.89747912del	NC_000006.12:g.89747912dup	NC_000006.12:g.89747911_89747912dup	NC_000006.12:g.89747910_89747912dup	NC_000006.12:g.89747909_89747912dup	NC_000006.12:g.89747908_89747912dup	NC_000006.12:g.89747907_89747912dup	NC_000006.12:g.89747905_89747912dup	NC_000006.12:g.89747912_89747913insAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000006.12:g.89747912_89747913insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 6	NC_000006.11:g.90457610_90457631=	NC_000006.11:g.90457619_90457631del	NC_000006.11:g.90457620_90457631del	NC_000006.11:g.90457621_90457631del	NC_000006.11:g.90457622_90457631del	NC_000006.11:g.90457624_90457631del	NC_000006.11:g.90457625_90457631del	NC_000006.11:g.90457626_90457631del	NC_000006.11:g.90457627_90457631del	NC_000006.11:g.90457628_90457631del	NC_000006.11:g.90457629_90457631del	NC_000006.11:g.90457630_90457631del	NC_000006.11:g.90457631del	NC_000006.11:g.90457631dup	NC_000006.11:g.90457630_90457631dup	NC_000006.11:g.90457629_90457631dup	NC_000006.11:g.90457628_90457631dup	NC_000006.11:g.90457627_90457631dup	NC_000006.11:g.90457626_90457631dup	NC_000006.11:g.90457624_90457631dup	NC_000006.11:g.90457631_90457632insAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000006.11:g.90457631_90457632insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
MDN1 RefSeqGene	NG_034012.1:g.76883_76904=	NG_034012.1:g.76892_76904del	NG_034012.1:g.76893_76904del	NG_034012.1:g.76894_76904del	NG_034012.1:g.76895_76904del	NG_034012.1:g.76897_76904del	NG_034012.1:g.76898_76904del	NG_034012.1:g.76899_76904del	NG_034012.1:g.76900_76904del	NG_034012.1:g.76901_76904del	NG_034012.1:g.76902_76904del	NG_034012.1:g.76903_76904del	NG_034012.1:g.76904del	NG_034012.1:g.76904dup	NG_034012.1:g.76903_76904dup	NG_034012.1:g.76902_76904dup	NG_034012.1:g.76901_76904dup	NG_034012.1:g.76900_76904dup	NG_034012.1:g.76899_76904dup	NG_034012.1:g.76897_76904dup	NG_034012.1:g.76904_76905insTTTTTTTTTTTTTTTTTTTTTTTTT	NG_034012.1:g.76904_76905insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
MDN1 transcript	NM_014611.1:c.3763-421=	NM_014611.1:c.3763-433_3763-421del	NM_014611.1:c.3763-432_3763-421del	NM_014611.1:c.3763-431_3763-421del	NM_014611.1:c.3763-430_3763-421del	NM_014611.1:c.3763-428_3763-421del	NM_014611.1:c.3763-427_3763-421del	NM_014611.1:c.3763-426_3763-421del	NM_014611.1:c.3763-425_3763-421del	NM_014611.1:c.3763-424_3763-421del	NM_014611.1:c.3763-423_3763-421del	NM_014611.1:c.3763-422_3763-421del	NM_014611.1:c.3763-421del	NM_014611.1:c.3763-421dup	NM_014611.1:c.3763-422_3763-421dup	NM_014611.1:c.3763-423_3763-421dup	NM_014611.1:c.3763-424_3763-421dup	NM_014611.1:c.3763-425_3763-421dup	NM_014611.1:c.3763-426_3763-421dup	NM_014611.1:c.3763-428_3763-421dup	NM_014611.1:c.3763-421_3763-420insTTTTTTTTTTTTTTTTTTTTTTTTT	NM_014611.1:c.3763-421_3763-420insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
MDN1 transcript	NM_014611.3:c.3763-421=	NM_014611.3:c.3763-433_3763-421del	NM_014611.3:c.3763-432_3763-421del	NM_014611.3:c.3763-431_3763-421del	NM_014611.3:c.3763-430_3763-421del	NM_014611.3:c.3763-428_3763-421del	NM_014611.3:c.3763-427_3763-421del	NM_014611.3:c.3763-426_3763-421del	NM_014611.3:c.3763-425_3763-421del	NM_014611.3:c.3763-424_3763-421del	NM_014611.3:c.3763-423_3763-421del	NM_014611.3:c.3763-422_3763-421del	NM_014611.3:c.3763-421del	NM_014611.3:c.3763-421dup	NM_014611.3:c.3763-422_3763-421dup	NM_014611.3:c.3763-423_3763-421dup	NM_014611.3:c.3763-424_3763-421dup	NM_014611.3:c.3763-425_3763-421dup	NM_014611.3:c.3763-426_3763-421dup	NM_014611.3:c.3763-428_3763-421dup	NM_014611.3:c.3763-421_3763-420insTTTTTTTTTTTTTTTTTTTTTTTTT	NM_014611.3:c.3763-421_3763-420insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

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#.

62 SubSNP, 33 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss77854899	Dec 06, 2007 (129)
2	HGSV	ss79811750	Dec 14, 2007 (130)
3	HGSV	ss80074211	Dec 14, 2007 (130)
4	HGSV	ss80972351	Dec 14, 2007 (130)
5	HGSV	ss82547967	Aug 21, 2014 (142)
6	HUMANGENOME_JCVI	ss95435672	Feb 04, 2009 (130)
7	PJP	ss295294283	May 09, 2011 (144)
8	PJP	ss295294284	May 09, 2011 (144)
9	1000GENOMES	ss1375824735	Aug 21, 2014 (144)
10	EVA_GENOME_DK	ss1576807760	Apr 01, 2015 (144)
11	EVA_UK10K_ALSPAC	ss1705261586	Apr 01, 2015 (144)
12	EVA_UK10K_TWINSUK	ss1705261650	Apr 01, 2015 (144)
13	EVA_UK10K_TWINSUK	ss1710281376	Apr 01, 2015 (144)
14	EVA_UK10K_ALSPAC	ss1710281405	Apr 01, 2015 (144)
15	SWEGEN	ss2999521917	Nov 08, 2017 (151)
16	EVA_DECODE	ss3717745390	Jul 13, 2019 (153)
17	EVA_DECODE	ss3717745391	Jul 13, 2019 (153)
18	EVA_DECODE	ss3717745392	Jul 13, 2019 (153)
19	EVA_DECODE	ss3717745393	Jul 13, 2019 (153)
20	EVA_DECODE	ss3717745394	Jul 13, 2019 (153)
21	EVA_DECODE	ss3717745395	Jul 13, 2019 (153)
22	ACPOP	ss3733747484	Jul 13, 2019 (153)
23	ACPOP	ss3733747485	Jul 13, 2019 (153)
24	ACPOP	ss3733747486	Jul 13, 2019 (153)
25	PACBIO	ss3790889658	Jul 13, 2019 (153)
26	PACBIO	ss3790889659	Jul 13, 2019 (153)
27	PACBIO	ss3795768818	Jul 13, 2019 (153)
28	PACBIO	ss3795768819	Jul 13, 2019 (153)
29	KHV_HUMAN_GENOMES	ss3808495852	Jul 13, 2019 (153)
30	EVA	ss3830063708	Apr 26, 2020 (154)
31	GNOMAD	ss4146552869	Apr 26, 2021 (155)
32	GNOMAD	ss4146552870	Apr 26, 2021 (155)
33	GNOMAD	ss4146552871	Apr 26, 2021 (155)
34	GNOMAD	ss4146552872	Apr 26, 2021 (155)
35	GNOMAD	ss4146552873	Apr 26, 2021 (155)
36	GNOMAD	ss4146552874	Apr 26, 2021 (155)
37	GNOMAD	ss4146552875	Apr 26, 2021 (155)
38	GNOMAD	ss4146552876	Apr 26, 2021 (155)
39	GNOMAD	ss4146552877	Apr 26, 2021 (155)
40	GNOMAD	ss4146552878	Apr 26, 2021 (155)
41	GNOMAD	ss4146552879	Apr 26, 2021 (155)
42	GNOMAD	ss4146552880	Apr 26, 2021 (155)
43	GNOMAD	ss4146552881	Apr 26, 2021 (155)
44	GNOMAD	ss4146552882	Apr 26, 2021 (155)
45	GNOMAD	ss4146552883	Apr 26, 2021 (155)
46	GNOMAD	ss4146552884	Apr 26, 2021 (155)
47	GNOMAD	ss4146552885	Apr 26, 2021 (155)
48	TOMMO_GENOMICS	ss5178722203	Apr 26, 2021 (155)
49	TOMMO_GENOMICS	ss5178722204	Apr 26, 2021 (155)
50	TOMMO_GENOMICS	ss5178722205	Apr 26, 2021 (155)
51	1000G_HIGH_COVERAGE	ss5269406112	Oct 14, 2022 (156)
52	1000G_HIGH_COVERAGE	ss5269406113	Oct 14, 2022 (156)
53	1000G_HIGH_COVERAGE	ss5269406115	Oct 14, 2022 (156)
54	1000G_HIGH_COVERAGE	ss5269406116	Oct 14, 2022 (156)
55	HUGCELL_USP	ss5466939953	Oct 14, 2022 (156)
56	HUGCELL_USP	ss5466939954	Oct 14, 2022 (156)
57	TOMMO_GENOMICS	ss5717253202	Oct 14, 2022 (156)
58	TOMMO_GENOMICS	ss5717253203	Oct 14, 2022 (156)
59	TOMMO_GENOMICS	ss5717253204	Oct 14, 2022 (156)
60	EVA	ss5842627441	Oct 14, 2022 (156)
61	EVA	ss5842627442	Oct 14, 2022 (156)
62	EVA	ss5842627443	Oct 14, 2022 (156)
63	1000Genomes	NC_000006.11 - 90457610	Oct 12, 2018 (152)
64	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 18401844 (NC_000006.11:90457610:A: 2564/3854) Row 18401845 (NC_000006.11:90457609:AAA: 997/3854)	-	Oct 12, 2018 (152)
65	The Avon Longitudinal Study of Parents and Children Submission ignored due to conflicting rows: Row 18401844 (NC_000006.11:90457610:A: 2564/3854) Row 18401845 (NC_000006.11:90457609:AAA: 997/3854)	-	Oct 12, 2018 (152)
66	The Danish reference pan genome	NC_000006.11 - 90457610	Apr 26, 2020 (154)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 233150778 (NC_000006.12:89747890::A 239/76882) Row 233150779 (NC_000006.12:89747890::AA 50/77026) Row 233150780 (NC_000006.12:89747890::AAA 32/77050)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 233150778 (NC_000006.12:89747890::A 239/76882) Row 233150779 (NC_000006.12:89747890::AA 50/77026) Row 233150780 (NC_000006.12:89747890::AAA 32/77050)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 233150778 (NC_000006.12:89747890::A 239/76882) Row 233150779 (NC_000006.12:89747890::AA 50/77026) Row 233150780 (NC_000006.12:89747890::AAA 32/77050)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 233150778 (NC_000006.12:89747890::A 239/76882) Row 233150779 (NC_000006.12:89747890::AA 50/77026) Row 233150780 (NC_000006.12:89747890::AAA 32/77050)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 233150778 (NC_000006.12:89747890::A 239/76882) Row 233150779 (NC_000006.12:89747890::AA 50/77026) Row 233150780 (NC_000006.12:89747890::AAA 32/77050)...	-	Apr 26, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 233150778 (NC_000006.12:89747890::A 239/76882) Row 233150779 (NC_000006.12:89747890::AA 50/77026) Row 233150780 (NC_000006.12:89747890::AAA 32/77050)...	-	Apr 26, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 233150778 (NC_000006.12:89747890::A 239/76882) Row 233150779 (NC_000006.12:89747890::AA 50/77026) Row 233150780 (NC_000006.12:89747890::AAA 32/77050)...	-	Apr 26, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 233150778 (NC_000006.12:89747890::A 239/76882) Row 233150779 (NC_000006.12:89747890::AA 50/77026) Row 233150780 (NC_000006.12:89747890::AAA 32/77050)...	-	Apr 26, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 233150778 (NC_000006.12:89747890::A 239/76882) Row 233150779 (NC_000006.12:89747890::AA 50/77026) Row 233150780 (NC_000006.12:89747890::AAA 32/77050)...	-	Apr 26, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 233150778 (NC_000006.12:89747890::A 239/76882) Row 233150779 (NC_000006.12:89747890::AA 50/77026) Row 233150780 (NC_000006.12:89747890::AAA 32/77050)...	-	Apr 26, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 233150778 (NC_000006.12:89747890::A 239/76882) Row 233150779 (NC_000006.12:89747890::AA 50/77026) Row 233150780 (NC_000006.12:89747890::AAA 32/77050)...	-	Apr 26, 2021 (155)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 233150778 (NC_000006.12:89747890::A 239/76882) Row 233150779 (NC_000006.12:89747890::AA 50/77026) Row 233150780 (NC_000006.12:89747890::AAA 32/77050)...	-	Apr 26, 2021 (155)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 233150778 (NC_000006.12:89747890::A 239/76882) Row 233150779 (NC_000006.12:89747890::AA 50/77026) Row 233150780 (NC_000006.12:89747890::AAA 32/77050)...	-	Apr 26, 2021 (155)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 233150778 (NC_000006.12:89747890::A 239/76882) Row 233150779 (NC_000006.12:89747890::AA 50/77026) Row 233150780 (NC_000006.12:89747890::AAA 32/77050)...	-	Apr 26, 2021 (155)
81	gnomAD - Genomes Submission ignored due to conflicting rows: Row 233150778 (NC_000006.12:89747890::A 239/76882) Row 233150779 (NC_000006.12:89747890::AA 50/77026) Row 233150780 (NC_000006.12:89747890::AAA 32/77050)...	-	Apr 26, 2021 (155)
82	gnomAD - Genomes Submission ignored due to conflicting rows: Row 233150778 (NC_000006.12:89747890::A 239/76882) Row 233150779 (NC_000006.12:89747890::AA 50/77026) Row 233150780 (NC_000006.12:89747890::AAA 32/77050)...	-	Apr 26, 2021 (155)
83	gnomAD - Genomes Submission ignored due to conflicting rows: Row 233150778 (NC_000006.12:89747890::A 239/76882) Row 233150779 (NC_000006.12:89747890::AA 50/77026) Row 233150780 (NC_000006.12:89747890::AAA 32/77050)...	-	Apr 26, 2021 (155)
84	Northern Sweden Submission ignored due to conflicting rows: Row 7032349 (NC_000006.11:90457609:A: 202/500) Row 7032350 (NC_000006.11:90457609:AA: 49/500) Row 7032351 (NC_000006.11:90457609::AAAAAAAAAAAAAAAAAAAAAAAAA 1/500)	-	Jul 13, 2019 (153)
85	Northern Sweden Submission ignored due to conflicting rows: Row 7032349 (NC_000006.11:90457609:A: 202/500) Row 7032350 (NC_000006.11:90457609:AA: 49/500) Row 7032351 (NC_000006.11:90457609::AAAAAAAAAAAAAAAAAAAAAAAAA 1/500)	-	Jul 13, 2019 (153)
86	Northern Sweden Submission ignored due to conflicting rows: Row 7032349 (NC_000006.11:90457609:A: 202/500) Row 7032350 (NC_000006.11:90457609:AA: 49/500) Row 7032351 (NC_000006.11:90457609::AAAAAAAAAAAAAAAAAAAAAAAAA 1/500)	-	Jul 13, 2019 (153)
87	8.3KJPN Submission ignored due to conflicting rows: Row 36691510 (NC_000006.11:90457609:A: 9982/16324) Row 36691511 (NC_000006.11:90457609:AA: 1999/16324) Row 36691512 (NC_000006.11:90457609:AAAAAAAA: 73/16324)	-	Apr 26, 2021 (155)
88	8.3KJPN Submission ignored due to conflicting rows: Row 36691510 (NC_000006.11:90457609:A: 9982/16324) Row 36691511 (NC_000006.11:90457609:AA: 1999/16324) Row 36691512 (NC_000006.11:90457609:AAAAAAAA: 73/16324)	-	Apr 26, 2021 (155)
89	8.3KJPN Submission ignored due to conflicting rows: Row 36691510 (NC_000006.11:90457609:A: 9982/16324) Row 36691511 (NC_000006.11:90457609:AA: 1999/16324) Row 36691512 (NC_000006.11:90457609:AAAAAAAA: 73/16324)	-	Apr 26, 2021 (155)
90	14KJPN Submission ignored due to conflicting rows: Row 51090306 (NC_000006.12:89747890:AA: 3994/28026) Row 51090307 (NC_000006.12:89747890:A: 19053/28026) Row 51090308 (NC_000006.12:89747890:AAAAAAAA: 136/28026)	-	Oct 14, 2022 (156)
91	14KJPN Submission ignored due to conflicting rows: Row 51090306 (NC_000006.12:89747890:AA: 3994/28026) Row 51090307 (NC_000006.12:89747890:A: 19053/28026) Row 51090308 (NC_000006.12:89747890:AAAAAAAA: 136/28026)	-	Oct 14, 2022 (156)
92	14KJPN Submission ignored due to conflicting rows: Row 51090306 (NC_000006.12:89747890:AA: 3994/28026) Row 51090307 (NC_000006.12:89747890:A: 19053/28026) Row 51090308 (NC_000006.12:89747890:AAAAAAAA: 136/28026)	-	Oct 14, 2022 (156)
93	UK 10K study - Twins Submission ignored due to conflicting rows: Row 18401844 (NC_000006.11:90457610:A: 2516/3708) Row 18401845 (NC_000006.11:90457609:AAA: 903/3708)	-	Oct 12, 2018 (152)
94	UK 10K study - Twins Submission ignored due to conflicting rows: Row 18401844 (NC_000006.11:90457610:A: 2516/3708) Row 18401845 (NC_000006.11:90457609:AAA: 903/3708)	-	Oct 12, 2018 (152)
95	ALFA	NC_000006.12 - 89747891	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)
rs57440396	May 23, 2008 (130)
rs67704726	Jul 01, 2015 (144)
rs67704727	Feb 27, 2009 (130)
rs71858366	Apr 25, 2013 (138)
rs71951949	May 11, 2012 (137)
rs72446867	Oct 18, 2011 (136)
rs148329032	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss2999521917	NC_000006.11:90457609:AAAAAAAAAAAA… NC_000006.11:90457609:AAAAAAAAAAAAA:	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
ss4146552885	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAA:	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
5019301776	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
ss4146552884	NC_000006.12:89747890:AAAAAAAAAAAA:	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
5019301776	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
ss82547967	NC_000006.9:90514341:AAAAAAAAAAA:	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss4146552883, ss5269406116	NC_000006.12:89747890:AAAAAAAAAAA:	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
5019301776	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss4146552882	NC_000006.12:89747890:AAAAAAAAAA:	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
5019301776	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss5178722205	NC_000006.11:90457609:AAAAAAAA:	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4146552881, ss5717253204	NC_000006.12:89747890:AAAAAAAA:	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
5019301776	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4146552880	NC_000006.12:89747890:AAAAAAA:	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
5019301776	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4146552879	NC_000006.12:89747890:AAAAAA:	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss3717745395	NC_000006.12:89747890:AAAAA:	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4146552878	NC_000006.12:89747890:AAAA:	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3717745394	NC_000006.12:89747891:AAAA:	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss1705261586, ss1705261650, ss5842627443	NC_000006.11:90457609:AAA:	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4146552877, ss5269406113	NC_000006.12:89747890:AAA:	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
5019301776	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3717745393	NC_000006.12:89747892:AAA:	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3733747485, ss3790889658, ss3795768818, ss5178722204, ss5842627441	NC_000006.11:90457609:AA:	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss1710281376, ss1710281405	NC_000006.11:90457610:AA:	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss5269406112, ss5466939953, ss5717253202	NC_000006.12:89747890:AA:	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
5019301776	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3717745392	NC_000006.12:89747893:AA:	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss77854899, ss79811750, ss80074211, ss80972351	NC_000006.9:90514351:A:	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss295294283	NC_000006.10:90514330:A:	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss295294284	NC_000006.10:90514351:A:	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
33039126, 1091628, ss1375824735, ss1576807760, ss3733747484, ss3790889659, ss3795768819, ss3830063708, ss5178722203, ss5842627442	NC_000006.11:90457609:A:	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
	NC_000006.11:90457610:A:	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3808495852, ss5466939954, ss5717253203	NC_000006.12:89747890:A:	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
5019301776	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3717745391	NC_000006.12:89747894:A:	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss95435672	NT_007299.13:28577464:A:	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4146552869	NC_000006.12:89747890::A	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
5019301776	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3717745390	NC_000006.12:89747895::A	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4146552870	NC_000006.12:89747890::AA	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
5019301776	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4146552871	NC_000006.12:89747890::AAA	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
5019301776	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4146552872, ss5269406115	NC_000006.12:89747890::AAAA	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
5019301776	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4146552873	NC_000006.12:89747890::AAAAA	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
5019301776	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4146552874	NC_000006.12:89747890::AAAAAA	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
5019301776	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4146552875	NC_000006.12:89747890::AAAAAAAA	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3733747486	NC_000006.11:90457609::AAAAAAAAAAA… NC_000006.11:90457609::AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4146552876	NC_000006.12:89747890::AAAAAAAAAAA… NC_000006.12:89747890::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000006.12:89747890:AAAAAAAAAAAA… NC_000006.12:89747890:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(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 rs55885838

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

rs55885838