Name: rs56339584
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.

rs56339584

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr15:56455248-56455271 (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)₁₁ / del(A)₁₀ / d…
del(A)₁₃ / del(A)₁₁ / del(A)₁₀ / del(A)₉ / 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)₁₉ / dup(A)₂₄ / ins(A)₃₄ / ins(A)₆T(A)₃₅
Variation Type: Indel Insertion and Deletion
Frequency: (A)₂₄=0.0083 (32/3854, ALSPAC)
(A)₂₄=0.0121 (45/3708, TWINSUK)
del(A)₁₃=0.00 (0/84, ALFA) (+ 14 more)
del(A)₁₁=0.00 (0/84, ALFA)
del(A)₁₀=0.00 (0/84, ALFA)
del(A)₉=0.00 (0/84, ALFA)
del(A)₈=0.00 (0/84, ALFA)
del(A)₇=0.00 (0/84, ALFA)
del(A)₆=0.00 (0/84, ALFA)
del(A)₅=0.00 (0/84, ALFA)
del(A)₄=0.00 (0/84, ALFA)
delAAA=0.00 (0/84, ALFA)
delAA=0.00 (0/84, ALFA)
delA=0.00 (0/84, ALFA)
dupA=0.00 (0/84, ALFA)
dupAA=0.00 (0/84, ALFA)
dup(A)₄=0.00 (0/84, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: TEX9 : Intron Variant
MNS1 : 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	84	AAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
European	Sub	50	AAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African	Sub	30	AAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African Others	Sub	2	AAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
African American	Sub	28	AAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
East Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 1	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 2	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
South Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other	Sub	4	AAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAA=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
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	(A)₂₄=0.0083	delA=0.9917
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	(A)₂₄=0.0121	delA=0.9879
Allele Frequency Aggregator	Total	Global	84	(A)₂₄=1.00	del(A)₁₃=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dup(A)₄=0.00
Allele Frequency Aggregator	European	Sub	50	(A)₂₄=1.00	del(A)₁₃=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dup(A)₄=0.00
Allele Frequency Aggregator	African	Sub	30	(A)₂₄=1.00	del(A)₁₃=0.00, del(A)₁₁=0.00, del(A)₁₀=0.00, del(A)₉=0.00, del(A)₈=0.00, del(A)₇=0.00, del(A)₆=0.00, del(A)₅=0.00, del(A)₄=0.00, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dup(A)₄=0.00
Allele Frequency Aggregator	Other	Sub	4	(A)₂₄=1.0	del(A)₁₃=0.0, del(A)₁₁=0.0, del(A)₁₀=0.0, del(A)₉=0.0, del(A)₈=0.0, del(A)₇=0.0, del(A)₆=0.0, del(A)₅=0.0, del(A)₄=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dup(A)₄=0.0
Allele Frequency Aggregator	Latin American 1	Sub	0	(A)₂₄=0	del(A)₁₃=0, del(A)₁₁=0, del(A)₁₀=0, del(A)₉=0, del(A)₈=0, del(A)₇=0, del(A)₆=0, del(A)₅=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dup(A)₄=0
Allele Frequency Aggregator	Latin American 2	Sub	0	(A)₂₄=0	del(A)₁₃=0, del(A)₁₁=0, del(A)₁₀=0, del(A)₉=0, del(A)₈=0, del(A)₇=0, del(A)₆=0, del(A)₅=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dup(A)₄=0
Allele Frequency Aggregator	South Asian	Sub	0	(A)₂₄=0	del(A)₁₃=0, del(A)₁₁=0, del(A)₁₀=0, del(A)₉=0, del(A)₈=0, del(A)₇=0, del(A)₆=0, del(A)₅=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dup(A)₄=0
Allele Frequency Aggregator	Asian	Sub	0	(A)₂₄=0	del(A)₁₃=0, del(A)₁₁=0, del(A)₁₀=0, del(A)₉=0, del(A)₈=0, del(A)₇=0, del(A)₆=0, del(A)₅=0, del(A)₄=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dup(A)₄=0

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 15	NC_000015.10:g.56455259_56455271del
GRCh38.p14 chr 15	NC_000015.10:g.56455261_56455271del
GRCh38.p14 chr 15	NC_000015.10:g.56455262_56455271del
GRCh38.p14 chr 15	NC_000015.10:g.56455263_56455271del
GRCh38.p14 chr 15	NC_000015.10:g.56455264_56455271del
GRCh38.p14 chr 15	NC_000015.10:g.56455265_56455271del
GRCh38.p14 chr 15	NC_000015.10:g.56455266_56455271del
GRCh38.p14 chr 15	NC_000015.10:g.56455267_56455271del
GRCh38.p14 chr 15	NC_000015.10:g.56455268_56455271del
GRCh38.p14 chr 15	NC_000015.10:g.56455269_56455271del
GRCh38.p14 chr 15	NC_000015.10:g.56455270_56455271del
GRCh38.p14 chr 15	NC_000015.10:g.56455271del
GRCh38.p14 chr 15	NC_000015.10:g.56455271dup
GRCh38.p14 chr 15	NC_000015.10:g.56455270_56455271dup
GRCh38.p14 chr 15	NC_000015.10:g.56455269_56455271dup
GRCh38.p14 chr 15	NC_000015.10:g.56455268_56455271dup
GRCh38.p14 chr 15	NC_000015.10:g.56455267_56455271dup
GRCh38.p14 chr 15	NC_000015.10:g.56455266_56455271dup
GRCh38.p14 chr 15	NC_000015.10:g.56455253_56455271dup
GRCh38.p14 chr 15	NC_000015.10:g.56455248_56455271dup
GRCh38.p14 chr 15	NC_000015.10:g.56455271_56455272insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh38.p14 chr 15	NC_000015.10:g.56455248_56455271A[30]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
GRCh37.p13 chr 15	NC_000015.9:g.56747457_56747469del
GRCh37.p13 chr 15	NC_000015.9:g.56747459_56747469del
GRCh37.p13 chr 15	NC_000015.9:g.56747460_56747469del
GRCh37.p13 chr 15	NC_000015.9:g.56747461_56747469del
GRCh37.p13 chr 15	NC_000015.9:g.56747462_56747469del
GRCh37.p13 chr 15	NC_000015.9:g.56747463_56747469del
GRCh37.p13 chr 15	NC_000015.9:g.56747464_56747469del
GRCh37.p13 chr 15	NC_000015.9:g.56747465_56747469del
GRCh37.p13 chr 15	NC_000015.9:g.56747466_56747469del
GRCh37.p13 chr 15	NC_000015.9:g.56747467_56747469del
GRCh37.p13 chr 15	NC_000015.9:g.56747468_56747469del
GRCh37.p13 chr 15	NC_000015.9:g.56747469del
GRCh37.p13 chr 15	NC_000015.9:g.56747469dup
GRCh37.p13 chr 15	NC_000015.9:g.56747468_56747469dup
GRCh37.p13 chr 15	NC_000015.9:g.56747467_56747469dup
GRCh37.p13 chr 15	NC_000015.9:g.56747466_56747469dup
GRCh37.p13 chr 15	NC_000015.9:g.56747465_56747469dup
GRCh37.p13 chr 15	NC_000015.9:g.56747464_56747469dup
GRCh37.p13 chr 15	NC_000015.9:g.56747451_56747469dup
GRCh37.p13 chr 15	NC_000015.9:g.56747446_56747469dup
GRCh37.p13 chr 15	NC_000015.9:g.56747469_56747470insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
GRCh37.p13 chr 15	NC_000015.9:g.56747446_56747469A[30]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Gene: MNS1, meiosis specific nuclear structural 1 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
MNS1 transcript	NM_018365.4:c.353+1134_35… NM_018365.4:c.353+1134_353+1146del	N/A	Intron Variant

Gene: TEX9, testis expressed 9 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
TEX9 transcript variant 2	NM_001286449.2:c.	N/A	Genic Downstream Transcript Variant
TEX9 transcript variant 3	NM_001385040.1:c.	N/A	Genic Downstream Transcript Variant
TEX9 transcript variant 4	NM_001385041.1:c.	N/A	Genic Downstream Transcript Variant
TEX9 transcript variant 5	NM_001385042.1:c.	N/A	Genic Downstream Transcript Variant
TEX9 transcript variant 6	NM_001385043.1:c.	N/A	Genic Downstream Transcript Variant
TEX9 transcript variant 7	NM_001385044.1:c.	N/A	Genic Downstream Transcript Variant
TEX9 transcript variant 8	NM_001385045.1:c.	N/A	Genic Downstream Transcript Variant
TEX9 transcript variant 9	NM_001385046.1:c.	N/A	Genic Downstream Transcript Variant
TEX9 transcript variant 10	NM_001385047.1:c.	N/A	Genic Downstream Transcript Variant
TEX9 transcript variant 11	NM_001385048.1:c.	N/A	Genic Downstream Transcript Variant
TEX9 transcript variant 12	NM_001385049.1:c.	N/A	Genic Downstream Transcript Variant
TEX9 transcript variant 13	NM_001385050.1:c.	N/A	Genic Downstream Transcript Variant
TEX9 transcript variant 14	NM_001385051.1:c.	N/A	Genic Downstream Transcript Variant
TEX9 transcript variant 15	NM_001385052.1:c.	N/A	Genic Downstream Transcript Variant
TEX9 transcript variant 20	NM_001395496.1:c.	N/A	Genic Downstream Transcript Variant
TEX9 transcript variant 1	NM_198524.3:c.	N/A	Genic Downstream Transcript Variant
TEX9 transcript variant 16	NR_169560.1:n.	N/A	Genic Downstream Transcript Variant
TEX9 transcript variant 17	NR_169561.1:n.	N/A	Genic Downstream Transcript Variant
TEX9 transcript variant 18	NR_169562.1:n.	N/A	Genic Downstream Transcript Variant
TEX9 transcript variant 19	NR_169563.1:n.	N/A	Genic Downstream Transcript Variant
TEX9 transcript variant X3	XM_047432466.1:c.30-4369… XM_047432466.1:c.30-4369_*30-4357del	N/A	Intron Variant
TEX9 transcript variant X2	XM_005254359.6:c.	N/A	Genic Downstream Transcript Variant
TEX9 transcript variant X1	XM_011521530.4:c.	N/A	Genic Downstream Transcript Variant
TEX9 transcript variant X4	XM_047432467.1:c.	N/A	Genic Downstream Transcript Variant
TEX9 transcript variant X5	XM_047432468.1:c.	N/A	Genic Downstream Transcript Variant
TEX9 transcript variant X6	XM_047432469.1:c.	N/A	Genic Downstream Transcript Variant
TEX9 transcript variant X7	XM_047432470.1:c.	N/A	Genic Downstream Transcript Variant
TEX9 transcript variant X8	XM_047432471.1:c.	N/A	Genic Downstream Transcript Variant
TEX9 transcript variant X9	XM_047432472.1:c.	N/A	Genic Downstream Transcript Variant
TEX9 transcript variant X10	XM_047432473.1:c.	N/A	Genic Downstream Transcript Variant
TEX9 transcript variant X11	XM_047432474.1:c.	N/A	Genic Downstream Transcript Variant
TEX9 transcript variant X12	XM_047432475.1:c.	N/A	Genic Downstream Transcript Variant
TEX9 transcript variant X13	XM_047432476.1:c.	N/A	Genic Downstream Transcript 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)₂₄=	del(A)₁₃	del(A)₁₁	del(A)₁₀	del(A)₉	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)₁₉	dup(A)₂₄	ins(A)₃₄	ins(A)₆T(A)₃₅
GRCh38.p14 chr 15	NC_000015.10:g.56455248_56455271=	NC_000015.10:g.56455259_56455271del	NC_000015.10:g.56455261_56455271del	NC_000015.10:g.56455262_56455271del	NC_000015.10:g.56455263_56455271del	NC_000015.10:g.56455264_56455271del	NC_000015.10:g.56455265_56455271del	NC_000015.10:g.56455266_56455271del	NC_000015.10:g.56455267_56455271del	NC_000015.10:g.56455268_56455271del	NC_000015.10:g.56455269_56455271del	NC_000015.10:g.56455270_56455271del	NC_000015.10:g.56455271del	NC_000015.10:g.56455271dup	NC_000015.10:g.56455270_56455271dup	NC_000015.10:g.56455269_56455271dup	NC_000015.10:g.56455268_56455271dup	NC_000015.10:g.56455267_56455271dup	NC_000015.10:g.56455266_56455271dup	NC_000015.10:g.56455253_56455271dup	NC_000015.10:g.56455248_56455271dup	NC_000015.10:g.56455271_56455272insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000015.10:g.56455248_56455271A[30]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
GRCh37.p13 chr 15	NC_000015.9:g.56747446_56747469=	NC_000015.9:g.56747457_56747469del	NC_000015.9:g.56747459_56747469del	NC_000015.9:g.56747460_56747469del	NC_000015.9:g.56747461_56747469del	NC_000015.9:g.56747462_56747469del	NC_000015.9:g.56747463_56747469del	NC_000015.9:g.56747464_56747469del	NC_000015.9:g.56747465_56747469del	NC_000015.9:g.56747466_56747469del	NC_000015.9:g.56747467_56747469del	NC_000015.9:g.56747468_56747469del	NC_000015.9:g.56747469del	NC_000015.9:g.56747469dup	NC_000015.9:g.56747468_56747469dup	NC_000015.9:g.56747467_56747469dup	NC_000015.9:g.56747466_56747469dup	NC_000015.9:g.56747465_56747469dup	NC_000015.9:g.56747464_56747469dup	NC_000015.9:g.56747451_56747469dup	NC_000015.9:g.56747446_56747469dup	NC_000015.9:g.56747469_56747470insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000015.9:g.56747446_56747469A[30]TAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]
MNS1 transcript	NM_018365.2:c.353+1146=	NM_018365.2:c.353+1134_353+1146del	NM_018365.2:c.353+1136_353+1146del	NM_018365.2:c.353+1137_353+1146del	NM_018365.2:c.353+1138_353+1146del	NM_018365.2:c.353+1139_353+1146del	NM_018365.2:c.353+1140_353+1146del	NM_018365.2:c.353+1141_353+1146del	NM_018365.2:c.353+1142_353+1146del	NM_018365.2:c.353+1143_353+1146del	NM_018365.2:c.353+1144_353+1146del	NM_018365.2:c.353+1145_353+1146del	NM_018365.2:c.353+1146del	NM_018365.2:c.353+1146dup	NM_018365.2:c.353+1145_353+1146dup	NM_018365.2:c.353+1144_353+1146dup	NM_018365.2:c.353+1143_353+1146dup	NM_018365.2:c.353+1142_353+1146dup	NM_018365.2:c.353+1141_353+1146dup	NM_018365.2:c.353+1128_353+1146dup	NM_018365.2:c.353+1123_353+1146dup	NM_018365.2:c.353+1146_353+1147insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_018365.2:c.353+1146_353+1147insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTT
MNS1 transcript	NM_018365.4:c.353+1146=	NM_018365.4:c.353+1134_353+1146del	NM_018365.4:c.353+1136_353+1146del	NM_018365.4:c.353+1137_353+1146del	NM_018365.4:c.353+1138_353+1146del	NM_018365.4:c.353+1139_353+1146del	NM_018365.4:c.353+1140_353+1146del	NM_018365.4:c.353+1141_353+1146del	NM_018365.4:c.353+1142_353+1146del	NM_018365.4:c.353+1143_353+1146del	NM_018365.4:c.353+1144_353+1146del	NM_018365.4:c.353+1145_353+1146del	NM_018365.4:c.353+1146del	NM_018365.4:c.353+1146dup	NM_018365.4:c.353+1145_353+1146dup	NM_018365.4:c.353+1144_353+1146dup	NM_018365.4:c.353+1143_353+1146dup	NM_018365.4:c.353+1142_353+1146dup	NM_018365.4:c.353+1141_353+1146dup	NM_018365.4:c.353+1128_353+1146dup	NM_018365.4:c.353+1123_353+1146dup	NM_018365.4:c.353+1146_353+1147insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT	NM_018365.4:c.353+1146_353+1147insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTT
TEX9 transcript variant X3	XM_047432466.1:c.*30-4380=	XM_047432466.1:c.30-4369_30-4357del	XM_047432466.1:c.30-4367_30-4357del	XM_047432466.1:c.30-4366_30-4357del	XM_047432466.1:c.30-4365_30-4357del	XM_047432466.1:c.30-4364_30-4357del	XM_047432466.1:c.30-4363_30-4357del	XM_047432466.1:c.30-4362_30-4357del	XM_047432466.1:c.30-4361_30-4357del	XM_047432466.1:c.30-4360_30-4357del	XM_047432466.1:c.30-4359_30-4357del	XM_047432466.1:c.30-4358_30-4357del	XM_047432466.1:c.*30-4357del	XM_047432466.1:c.*30-4357dup	XM_047432466.1:c.30-4358_30-4357dup	XM_047432466.1:c.30-4359_30-4357dup	XM_047432466.1:c.30-4360_30-4357dup	XM_047432466.1:c.30-4361_30-4357dup	XM_047432466.1:c.30-4362_30-4357dup	XM_047432466.1:c.30-4375_30-4357dup	XM_047432466.1:c.30-4380_30-4357dup	XM_047432466.1:c.30-4357_30-4356insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	XM_047432466.1:c.30-4357_30-4356insAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

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#.

57 SubSNP, 32 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HGSV	ss77911756	Dec 07, 2007 (129)
2	HGSV	ss81920689	Dec 15, 2007 (130)
3	HGSV	ss82618439	Dec 15, 2007 (130)
4	HUMANGENOME_JCVI	ss95659340	Dec 05, 2013 (144)
5	GMI	ss289259571	May 04, 2012 (137)
6	PJP	ss294861253	May 09, 2011 (137)
7	PJP	ss294861254	May 09, 2011 (134)
8	EVA_UK10K_ALSPAC	ss1708306109	Apr 01, 2015 (144)
9	EVA_UK10K_TWINSUK	ss1708306333	Apr 01, 2015 (144)
10	SWEGEN	ss3013339566	Nov 08, 2017 (151)
11	EVA_DECODE	ss3697958534	Jul 13, 2019 (153)
12	EVA_DECODE	ss3697958535	Jul 13, 2019 (153)
13	EVA_DECODE	ss3697958536	Jul 13, 2019 (153)
14	EVA_DECODE	ss3697958537	Jul 13, 2019 (153)
15	EVA_DECODE	ss3697958538	Jul 13, 2019 (153)
16	PACBIO	ss3797751207	Jul 13, 2019 (153)
17	PACBIO	ss3797751208	Jul 13, 2019 (153)
18	EVA	ss3834252650	Apr 27, 2020 (154)
19	GNOMAD	ss4289366614	Apr 27, 2021 (155)
20	GNOMAD	ss4289366615	Apr 27, 2021 (155)
21	GNOMAD	ss4289366616	Apr 27, 2021 (155)
22	GNOMAD	ss4289366617	Apr 27, 2021 (155)
23	GNOMAD	ss4289366618	Apr 27, 2021 (155)
24	GNOMAD	ss4289366619	Apr 27, 2021 (155)
25	GNOMAD	ss4289366620	Apr 27, 2021 (155)
26	GNOMAD	ss4289366621	Apr 27, 2021 (155)
27	GNOMAD	ss4289366622	Apr 27, 2021 (155)
28	GNOMAD	ss4289366623	Apr 27, 2021 (155)
29	GNOMAD	ss4289366624	Apr 27, 2021 (155)
30	GNOMAD	ss4289366625	Apr 27, 2021 (155)
31	GNOMAD	ss4289366626	Apr 27, 2021 (155)
32	GNOMAD	ss4289366627	Apr 27, 2021 (155)
33	GNOMAD	ss4289366628	Apr 27, 2021 (155)
34	GNOMAD	ss4289366629	Apr 27, 2021 (155)
35	GNOMAD	ss4289366630	Apr 27, 2021 (155)
36	GNOMAD	ss4289366631	Apr 27, 2021 (155)
37	GNOMAD	ss4289366632	Apr 27, 2021 (155)
38	TOMMO_GENOMICS	ss5216352229	Apr 27, 2021 (155)
39	TOMMO_GENOMICS	ss5216352230	Apr 27, 2021 (155)
40	TOMMO_GENOMICS	ss5216352231	Apr 27, 2021 (155)
41	TOMMO_GENOMICS	ss5216352232	Apr 27, 2021 (155)
42	TOMMO_GENOMICS	ss5216352233	Apr 27, 2021 (155)
43	1000G_HIGH_COVERAGE	ss5298561440	Oct 16, 2022 (156)
44	1000G_HIGH_COVERAGE	ss5298561441	Oct 16, 2022 (156)
45	1000G_HIGH_COVERAGE	ss5298561442	Oct 16, 2022 (156)
46	1000G_HIGH_COVERAGE	ss5298561443	Oct 16, 2022 (156)
47	HUGCELL_USP	ss5492275193	Oct 16, 2022 (156)
48	HUGCELL_USP	ss5492275194	Oct 16, 2022 (156)
49	HUGCELL_USP	ss5492275195	Oct 16, 2022 (156)
50	TOMMO_GENOMICS	ss5770203083	Oct 16, 2022 (156)
51	TOMMO_GENOMICS	ss5770203084	Oct 16, 2022 (156)
52	TOMMO_GENOMICS	ss5770203085	Oct 16, 2022 (156)
53	TOMMO_GENOMICS	ss5770203086	Oct 16, 2022 (156)
54	TOMMO_GENOMICS	ss5770203087	Oct 16, 2022 (156)
55	EVA	ss5828247797	Oct 16, 2022 (156)
56	EVA	ss5851308409	Oct 16, 2022 (156)
57	EVA	ss5948982453	Oct 16, 2022 (156)
58	The Avon Longitudinal Study of Parents and Children	NC_000015.9 - 56747446	Oct 12, 2018 (152)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 470054587 (NC_000015.10:56455247::A 6183/76326) Row 470054588 (NC_000015.10:56455247::AA 223/76596) Row 470054589 (NC_000015.10:56455247::AAA 29/76644)...	-	Apr 27, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 470054587 (NC_000015.10:56455247::A 6183/76326) Row 470054588 (NC_000015.10:56455247::AA 223/76596) Row 470054589 (NC_000015.10:56455247::AAA 29/76644)...	-	Apr 27, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 470054587 (NC_000015.10:56455247::A 6183/76326) Row 470054588 (NC_000015.10:56455247::AA 223/76596) Row 470054589 (NC_000015.10:56455247::AAA 29/76644)...	-	Apr 27, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 470054587 (NC_000015.10:56455247::A 6183/76326) Row 470054588 (NC_000015.10:56455247::AA 223/76596) Row 470054589 (NC_000015.10:56455247::AAA 29/76644)...	-	Apr 27, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 470054587 (NC_000015.10:56455247::A 6183/76326) Row 470054588 (NC_000015.10:56455247::AA 223/76596) Row 470054589 (NC_000015.10:56455247::AAA 29/76644)...	-	Apr 27, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 470054587 (NC_000015.10:56455247::A 6183/76326) Row 470054588 (NC_000015.10:56455247::AA 223/76596) Row 470054589 (NC_000015.10:56455247::AAA 29/76644)...	-	Apr 27, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 470054587 (NC_000015.10:56455247::A 6183/76326) Row 470054588 (NC_000015.10:56455247::AA 223/76596) Row 470054589 (NC_000015.10:56455247::AAA 29/76644)...	-	Apr 27, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 470054587 (NC_000015.10:56455247::A 6183/76326) Row 470054588 (NC_000015.10:56455247::AA 223/76596) Row 470054589 (NC_000015.10:56455247::AAA 29/76644)...	-	Apr 27, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 470054587 (NC_000015.10:56455247::A 6183/76326) Row 470054588 (NC_000015.10:56455247::AA 223/76596) Row 470054589 (NC_000015.10:56455247::AAA 29/76644)...	-	Apr 27, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 470054587 (NC_000015.10:56455247::A 6183/76326) Row 470054588 (NC_000015.10:56455247::AA 223/76596) Row 470054589 (NC_000015.10:56455247::AAA 29/76644)...	-	Apr 27, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 470054587 (NC_000015.10:56455247::A 6183/76326) Row 470054588 (NC_000015.10:56455247::AA 223/76596) Row 470054589 (NC_000015.10:56455247::AAA 29/76644)...	-	Apr 27, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 470054587 (NC_000015.10:56455247::A 6183/76326) Row 470054588 (NC_000015.10:56455247::AA 223/76596) Row 470054589 (NC_000015.10:56455247::AAA 29/76644)...	-	Apr 27, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 470054587 (NC_000015.10:56455247::A 6183/76326) Row 470054588 (NC_000015.10:56455247::AA 223/76596) Row 470054589 (NC_000015.10:56455247::AAA 29/76644)...	-	Apr 27, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 470054587 (NC_000015.10:56455247::A 6183/76326) Row 470054588 (NC_000015.10:56455247::AA 223/76596) Row 470054589 (NC_000015.10:56455247::AAA 29/76644)...	-	Apr 27, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 470054587 (NC_000015.10:56455247::A 6183/76326) Row 470054588 (NC_000015.10:56455247::AA 223/76596) Row 470054589 (NC_000015.10:56455247::AAA 29/76644)...	-	Apr 27, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 470054587 (NC_000015.10:56455247::A 6183/76326) Row 470054588 (NC_000015.10:56455247::AA 223/76596) Row 470054589 (NC_000015.10:56455247::AAA 29/76644)...	-	Apr 27, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 470054587 (NC_000015.10:56455247::A 6183/76326) Row 470054588 (NC_000015.10:56455247::AA 223/76596) Row 470054589 (NC_000015.10:56455247::AAA 29/76644)...	-	Apr 27, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 470054587 (NC_000015.10:56455247::A 6183/76326) Row 470054588 (NC_000015.10:56455247::AA 223/76596) Row 470054589 (NC_000015.10:56455247::AAA 29/76644)...	-	Apr 27, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 470054587 (NC_000015.10:56455247::A 6183/76326) Row 470054588 (NC_000015.10:56455247::AA 223/76596) Row 470054589 (NC_000015.10:56455247::AAA 29/76644)...	-	Apr 27, 2021 (155)
78	8.3KJPN Submission ignored due to conflicting rows: Row 74321536 (NC_000015.9:56747445:AA: 5182/16638) Row 74321537 (NC_000015.9:56747445:A: 5324/16638) Row 74321538 (NC_000015.9:56747445:AAA: 2122/16638)...	-	Apr 27, 2021 (155)
79	8.3KJPN Submission ignored due to conflicting rows: Row 74321536 (NC_000015.9:56747445:AA: 5182/16638) Row 74321537 (NC_000015.9:56747445:A: 5324/16638) Row 74321538 (NC_000015.9:56747445:AAA: 2122/16638)...	-	Apr 27, 2021 (155)
80	8.3KJPN Submission ignored due to conflicting rows: Row 74321536 (NC_000015.9:56747445:AA: 5182/16638) Row 74321537 (NC_000015.9:56747445:A: 5324/16638) Row 74321538 (NC_000015.9:56747445:AAA: 2122/16638)...	-	Apr 27, 2021 (155)
81	8.3KJPN Submission ignored due to conflicting rows: Row 74321536 (NC_000015.9:56747445:AA: 5182/16638) Row 74321537 (NC_000015.9:56747445:A: 5324/16638) Row 74321538 (NC_000015.9:56747445:AAA: 2122/16638)...	-	Apr 27, 2021 (155)
82	8.3KJPN Submission ignored due to conflicting rows: Row 74321536 (NC_000015.9:56747445:AA: 5182/16638) Row 74321537 (NC_000015.9:56747445:A: 5324/16638) Row 74321538 (NC_000015.9:56747445:AAA: 2122/16638)...	-	Apr 27, 2021 (155)
83	14KJPN Submission ignored due to conflicting rows: Row 104040187 (NC_000015.10:56455247:AAA: 4009/28242) Row 104040188 (NC_000015.10:56455247:AA: 9851/28242) Row 104040189 (NC_000015.10:56455247:A: 9753/28242)...	-	Oct 16, 2022 (156)
84	14KJPN Submission ignored due to conflicting rows: Row 104040187 (NC_000015.10:56455247:AAA: 4009/28242) Row 104040188 (NC_000015.10:56455247:AA: 9851/28242) Row 104040189 (NC_000015.10:56455247:A: 9753/28242)...	-	Oct 16, 2022 (156)
85	14KJPN Submission ignored due to conflicting rows: Row 104040187 (NC_000015.10:56455247:AAA: 4009/28242) Row 104040188 (NC_000015.10:56455247:AA: 9851/28242) Row 104040189 (NC_000015.10:56455247:A: 9753/28242)...	-	Oct 16, 2022 (156)
86	14KJPN Submission ignored due to conflicting rows: Row 104040187 (NC_000015.10:56455247:AAA: 4009/28242) Row 104040188 (NC_000015.10:56455247:AA: 9851/28242) Row 104040189 (NC_000015.10:56455247:A: 9753/28242)...	-	Oct 16, 2022 (156)
87	14KJPN Submission ignored due to conflicting rows: Row 104040187 (NC_000015.10:56455247:AAA: 4009/28242) Row 104040188 (NC_000015.10:56455247:AA: 9851/28242) Row 104040189 (NC_000015.10:56455247:A: 9753/28242)...	-	Oct 16, 2022 (156)
88	UK 10K study - Twins	NC_000015.9 - 56747446	Oct 12, 2018 (152)
89	ALFA	NC_000015.10 - 56455248	Apr 27, 2021 (155)

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

Associated ID	History Updated (Build)
rs60441841	May 26, 2008 (130)
rs71968813	May 11, 2012 (137)
rs140555186	May 11, 2012 (137)
rs398027413	Jul 01, 2015 (144)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4289366632	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAA:	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
6312881177	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
6312881177	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
6312881177	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4289366631	NC_000015.10:56455247:AAAAAAAAA:	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
6312881177	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4289366630	NC_000015.10:56455247:AAAAAAAA:	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
6312881177	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
6312881177	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4289366629	NC_000015.10:56455247:AAAAAA:	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
6312881177	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4289366628	NC_000015.10:56455247:AAAAA:	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
6312881177	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3013339566	NC_000015.9:56747445:AAAA:	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3697958538, ss4289366627, ss5298561443	NC_000015.10:56455247:AAAA:	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
6312881177	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3834252650, ss5216352231	NC_000015.9:56747445:AAA:	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4289366626, ss5298561442, ss5492275195, ss5770203083	NC_000015.10:56455247:AAA:	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
6312881177	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss3697958537	NC_000015.10:56455248:AAA:	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss5216352229	NC_000015.9:56747445:AA:	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4289366625, ss5298561440, ss5492275193, ss5770203084	NC_000015.10:56455247:AA:	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
6312881177	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3697958536	NC_000015.10:56455249:AA:	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss289259571, ss294861253	NC_000015.8:54534737:A:	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss77911756, ss81920689, ss82618439, ss294861254	NC_000015.8:54534760:A:	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
37013921, 37013921, ss1708306109, ss1708306333, ss3797751207, ss5216352230, ss5828247797, ss5948982453	NC_000015.9:56747445:A:	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4289366624, ss5492275194, ss5770203085, ss5851308409	NC_000015.10:56455247:A:	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
6312881177	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3697958535	NC_000015.10:56455250:A:	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss95659340	NT_010194.17:27538025:A:	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3797751208, ss5216352232	NC_000015.9:56747445::A	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4289366614, ss5298561441, ss5770203086	NC_000015.10:56455247::A	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
6312881177	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3697958534	NC_000015.10:56455251::A	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5216352233	NC_000015.9:56747445::AA	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4289366615, ss5770203087	NC_000015.10:56455247::AA	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
6312881177	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4289366616	NC_000015.10:56455247::AAA	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4289366617	NC_000015.10:56455247::AAAA	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
6312881177	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4289366618	NC_000015.10:56455247::AAAAA	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4289366619	NC_000015.10:56455247::AAAAAA	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4289366620	NC_000015.10:56455247::AAAAAAAAAAA… NC_000015.10:56455247::AAAAAAAAAAAAAAAAAAA	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4289366621	NC_000015.10:56455247::AAAAAAAAAAA… NC_000015.10:56455247::AAAAAAAAAAAAAAAAAAAAAAAA	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4289366622	NC_000015.10:56455247::AAAAAAAAAAA… NC_000015.10:56455247::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4289366623	NC_000015.10:56455247::AAAAAAAAAAA… NC_000015.10:56455247::AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAA	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss3228524660	NC_000015.10:56455247:AAAAAAAAAAA:	NC_000015.10:56455247:AAAAAAAAAAAA… NC_000015.10:56455247:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA

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

No publications for rs56339584

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

rs56339584