Name: rs68006925
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.

rs68006925

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr17:41994520-41994545 (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)₁₆ / del(A)₁₃ / del(A)₁₂ / d…
del(A)₁₆ / del(A)₁₃ / del(A)₁₂ / 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)₉
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₁₆=0.0000 (0/8932, ALFA)
del(A)₁₃=0.0000 (0/8932, ALFA)
del(A)₁₂=0.0000 (0/8932, ALFA) (+ 15 more)
del(A)₁₁=0.0000 (0/8932, ALFA)
del(A)₁₀=0.0000 (0/8932, ALFA)
del(A)₉=0.0000 (0/8932, ALFA)
del(A)₈=0.0000 (0/8932, ALFA)
del(A)₇=0.0000 (0/8932, ALFA)
del(A)₆=0.0000 (0/8932, ALFA)
del(A)₅=0.0000 (0/8932, ALFA)
del(A)₄=0.0000 (0/8932, ALFA)
delAAA=0.0000 (0/8932, ALFA)
delAA=0.0000 (0/8932, ALFA)
delA=0.0000 (0/8932, ALFA)
dupA=0.0000 (0/8932, ALFA)
dupAA=0.0000 (0/8932, ALFA)
dupAAA=0.0000 (0/8932, ALFA)
dup(A)₅=0.0000 (0/8932, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: DNAJC7 : 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	8932	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
European	Sub	6346	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African	Sub	1452	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
African Others	Sub	48	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
African American	Sub	1404	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.0000	AAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0000	1.0	N/A
Asian	Sub	78	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
East Asian	Sub	60	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other Asian	Sub	18	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Latin American 1	Sub	110	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
Latin American 2	Sub	522	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	N/A
South Asian	Sub	64	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	N/A
Other	Sub	360	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=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").

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Study	Population	Group	Sample Size	Ref Allele	Alt Allele
Allele Frequency Aggregator	Total	Global	8932	(A)₂₆=1.0000	del(A)₁₆=0.0000, del(A)₁₃=0.0000, del(A)₁₂=0.0000, del(A)₁₁=0.0000, del(A)₁₀=0.0000, del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₅=0.0000
Allele Frequency Aggregator	European	Sub	6346	(A)₂₆=1.0000	del(A)₁₆=0.0000, del(A)₁₃=0.0000, del(A)₁₂=0.0000, del(A)₁₁=0.0000, del(A)₁₀=0.0000, del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₅=0.0000
Allele Frequency Aggregator	African	Sub	1452	(A)₂₆=1.0000	del(A)₁₆=0.0000, del(A)₁₃=0.0000, del(A)₁₂=0.0000, del(A)₁₁=0.0000, del(A)₁₀=0.0000, del(A)₉=0.0000, del(A)₈=0.0000, del(A)₇=0.0000, del(A)₆=0.0000, del(A)₅=0.0000, del(A)₄=0.0000, delAAA=0.0000, delAA=0.0000, delA=0.0000, dupA=0.0000, dupAA=0.0000, dupAAA=0.0000, dup(A)₅=0.0000
Allele Frequency Aggregator	Latin American 2	Sub	522	(A)₂₆=1.000	del(A)₁₆=0.000, del(A)₁₃=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₅=0.000
Allele Frequency Aggregator	Other	Sub	360	(A)₂₆=1.000	del(A)₁₆=0.000, del(A)₁₃=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₅=0.000
Allele Frequency Aggregator	Latin American 1	Sub	110	(A)₂₆=1.000	del(A)₁₆=0.000, del(A)₁₃=0.000, del(A)₁₂=0.000, del(A)₁₁=0.000, del(A)₁₀=0.000, del(A)₉=0.000, del(A)₈=0.000, del(A)₇=0.000, del(A)₆=0.000, del(A)₅=0.000, del(A)₄=0.000, delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000, dupAA=0.000, dupAAA=0.000, dup(A)₅=0.000
Allele Frequency Aggregator	Asian	Sub	78	(A)₂₆=1.00	del(A)₁₆=0.00, del(A)₁₃=0.00, del(A)₁₂=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, dupAAA=0.00, dup(A)₅=0.00
Allele Frequency Aggregator	South Asian	Sub	64	(A)₂₆=1.00	del(A)₁₆=0.00, del(A)₁₃=0.00, del(A)₁₂=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, dupAAA=0.00, dup(A)₅=0.00

Variant Details tab shows known variant placements on genomic sequences: chromosomes (NC_), RefSeqGene, pseudogenes or genomic regions (NG_), and in a separate table: on transcripts (NM_) and protein sequences (NP_). The corresponding transcript and protein locations are listed in adjacent lines, along with molecular consequences from Sequence Ontology. When no protein placement is available, only the transcript is listed. Column "Codon[Amino acid]" shows the actual base change in the format of "Reference > Alternate" allele, including the nucleotide codon change in transcripts, and the amino acid change in proteins, respectively, allowing for known ribosomal slippage sites. To view nucleotides adjacent to the variant use the Genomic View at the bottom of the page - zoom into the sequence until the nucleotides around the variant become visible.

Genomic Placements

Sequence name	Change
GRCh38.p14 chr 17	NC_000017.11:g.41994530_41994545del
GRCh38.p14 chr 17	NC_000017.11:g.41994533_41994545del
GRCh38.p14 chr 17	NC_000017.11:g.41994534_41994545del
GRCh38.p14 chr 17	NC_000017.11:g.41994535_41994545del
GRCh38.p14 chr 17	NC_000017.11:g.41994536_41994545del
GRCh38.p14 chr 17	NC_000017.11:g.41994537_41994545del
GRCh38.p14 chr 17	NC_000017.11:g.41994538_41994545del
GRCh38.p14 chr 17	NC_000017.11:g.41994539_41994545del
GRCh38.p14 chr 17	NC_000017.11:g.41994540_41994545del
GRCh38.p14 chr 17	NC_000017.11:g.41994541_41994545del
GRCh38.p14 chr 17	NC_000017.11:g.41994542_41994545del
GRCh38.p14 chr 17	NC_000017.11:g.41994543_41994545del
GRCh38.p14 chr 17	NC_000017.11:g.41994544_41994545del
GRCh38.p14 chr 17	NC_000017.11:g.41994545del
GRCh38.p14 chr 17	NC_000017.11:g.41994545dup
GRCh38.p14 chr 17	NC_000017.11:g.41994544_41994545dup
GRCh38.p14 chr 17	NC_000017.11:g.41994543_41994545dup
GRCh38.p14 chr 17	NC_000017.11:g.41994542_41994545dup
GRCh38.p14 chr 17	NC_000017.11:g.41994541_41994545dup
GRCh38.p14 chr 17	NC_000017.11:g.41994537_41994545dup
GRCh37.p13 chr 17	NC_000017.10:g.40146548_40146563del
GRCh37.p13 chr 17	NC_000017.10:g.40146551_40146563del
GRCh37.p13 chr 17	NC_000017.10:g.40146552_40146563del
GRCh37.p13 chr 17	NC_000017.10:g.40146553_40146563del
GRCh37.p13 chr 17	NC_000017.10:g.40146554_40146563del
GRCh37.p13 chr 17	NC_000017.10:g.40146555_40146563del
GRCh37.p13 chr 17	NC_000017.10:g.40146556_40146563del
GRCh37.p13 chr 17	NC_000017.10:g.40146557_40146563del
GRCh37.p13 chr 17	NC_000017.10:g.40146558_40146563del
GRCh37.p13 chr 17	NC_000017.10:g.40146559_40146563del
GRCh37.p13 chr 17	NC_000017.10:g.40146560_40146563del
GRCh37.p13 chr 17	NC_000017.10:g.40146561_40146563del
GRCh37.p13 chr 17	NC_000017.10:g.40146562_40146563del
GRCh37.p13 chr 17	NC_000017.10:g.40146563del
GRCh37.p13 chr 17	NC_000017.10:g.40146563dup
GRCh37.p13 chr 17	NC_000017.10:g.40146562_40146563dup
GRCh37.p13 chr 17	NC_000017.10:g.40146561_40146563dup
GRCh37.p13 chr 17	NC_000017.10:g.40146560_40146563dup
GRCh37.p13 chr 17	NC_000017.10:g.40146559_40146563dup
GRCh37.p13 chr 17	NC_000017.10:g.40146555_40146563dup
GRCh37.p13 chr 17 fix patch HG185_PATCH	NW_003571052.1:g.281172_281187del
GRCh37.p13 chr 17 fix patch HG185_PATCH	NW_003571052.1:g.281175_281187del
GRCh37.p13 chr 17 fix patch HG185_PATCH	NW_003571052.1:g.281176_281187del
GRCh37.p13 chr 17 fix patch HG185_PATCH	NW_003571052.1:g.281177_281187del
GRCh37.p13 chr 17 fix patch HG185_PATCH	NW_003571052.1:g.281178_281187del
GRCh37.p13 chr 17 fix patch HG185_PATCH	NW_003571052.1:g.281179_281187del
GRCh37.p13 chr 17 fix patch HG185_PATCH	NW_003571052.1:g.281180_281187del
GRCh37.p13 chr 17 fix patch HG185_PATCH	NW_003571052.1:g.281181_281187del
GRCh37.p13 chr 17 fix patch HG185_PATCH	NW_003571052.1:g.281182_281187del
GRCh37.p13 chr 17 fix patch HG185_PATCH	NW_003571052.1:g.281183_281187del
GRCh37.p13 chr 17 fix patch HG185_PATCH	NW_003571052.1:g.281184_281187del
GRCh37.p13 chr 17 fix patch HG185_PATCH	NW_003571052.1:g.281185_281187del
GRCh37.p13 chr 17 fix patch HG185_PATCH	NW_003571052.1:g.281186_281187del
GRCh37.p13 chr 17 fix patch HG185_PATCH	NW_003571052.1:g.281187del
GRCh37.p13 chr 17 fix patch HG185_PATCH	NW_003571052.1:g.281187dup
GRCh37.p13 chr 17 fix patch HG185_PATCH	NW_003571052.1:g.281186_281187dup
GRCh37.p13 chr 17 fix patch HG185_PATCH	NW_003571052.1:g.281185_281187dup
GRCh37.p13 chr 17 fix patch HG185_PATCH	NW_003571052.1:g.281184_281187dup
GRCh37.p13 chr 17 fix patch HG185_PATCH	NW_003571052.1:g.281183_281187dup
GRCh37.p13 chr 17 fix patch HG185_PATCH	NW_003571052.1:g.281179_281187dup

Gene: DNAJC7, DnaJ heat shock protein family (Hsp40) member C7 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
DNAJC7 transcript variant 2	NM_001144766.3:c.312+335_… NM_001144766.3:c.312+335_312+350del	N/A	Intron Variant
DNAJC7 transcript variant 1	NM_003315.4:c.480+335_480… NM_003315.4:c.480+335_480+350del	N/A	Intron Variant
DNAJC7 transcript variant 3	NR_029431.2:n.	N/A	Intron Variant
DNAJC7 transcript variant X1	XM_011525167.4:c.312+335_… XM_011525167.4:c.312+335_312+350del	N/A	Intron Variant
DNAJC7 transcript variant X3	XM_011525169.4:c.312+335_… XM_011525169.4:c.312+335_312+350del	N/A	Intron Variant
DNAJC7 transcript variant X2	XM_017024994.3:c.312+335_… XM_017024994.3:c.312+335_312+350del	N/A	Intron Variant
DNAJC7 transcript variant X5	XR_001752603.3:n.	N/A	Intron Variant
DNAJC7 transcript variant X4	XR_007065438.1: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	(A)₂₆=	del(A)₁₆	del(A)₁₃	del(A)₁₂	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)₉
GRCh38.p14 chr 17	NC_000017.11:g.41994520_41994545=	NC_000017.11:g.41994530_41994545del	NC_000017.11:g.41994533_41994545del	NC_000017.11:g.41994534_41994545del	NC_000017.11:g.41994535_41994545del	NC_000017.11:g.41994536_41994545del	NC_000017.11:g.41994537_41994545del	NC_000017.11:g.41994538_41994545del	NC_000017.11:g.41994539_41994545del	NC_000017.11:g.41994540_41994545del	NC_000017.11:g.41994541_41994545del	NC_000017.11:g.41994542_41994545del	NC_000017.11:g.41994543_41994545del	NC_000017.11:g.41994544_41994545del	NC_000017.11:g.41994545del	NC_000017.11:g.41994545dup	NC_000017.11:g.41994544_41994545dup	NC_000017.11:g.41994543_41994545dup	NC_000017.11:g.41994542_41994545dup	NC_000017.11:g.41994541_41994545dup	NC_000017.11:g.41994537_41994545dup
GRCh37.p13 chr 17	NC_000017.10:g.40146538_40146563=	NC_000017.10:g.40146548_40146563del	NC_000017.10:g.40146551_40146563del	NC_000017.10:g.40146552_40146563del	NC_000017.10:g.40146553_40146563del	NC_000017.10:g.40146554_40146563del	NC_000017.10:g.40146555_40146563del	NC_000017.10:g.40146556_40146563del	NC_000017.10:g.40146557_40146563del	NC_000017.10:g.40146558_40146563del	NC_000017.10:g.40146559_40146563del	NC_000017.10:g.40146560_40146563del	NC_000017.10:g.40146561_40146563del	NC_000017.10:g.40146562_40146563del	NC_000017.10:g.40146563del	NC_000017.10:g.40146563dup	NC_000017.10:g.40146562_40146563dup	NC_000017.10:g.40146561_40146563dup	NC_000017.10:g.40146560_40146563dup	NC_000017.10:g.40146559_40146563dup	NC_000017.10:g.40146555_40146563dup
GRCh37.p13 chr 17 fix patch HG185_PATCH	NW_003571052.1:g.281162_281187=	NW_003571052.1:g.281172_281187del	NW_003571052.1:g.281175_281187del	NW_003571052.1:g.281176_281187del	NW_003571052.1:g.281177_281187del	NW_003571052.1:g.281178_281187del	NW_003571052.1:g.281179_281187del	NW_003571052.1:g.281180_281187del	NW_003571052.1:g.281181_281187del	NW_003571052.1:g.281182_281187del	NW_003571052.1:g.281183_281187del	NW_003571052.1:g.281184_281187del	NW_003571052.1:g.281185_281187del	NW_003571052.1:g.281186_281187del	NW_003571052.1:g.281187del	NW_003571052.1:g.281187dup	NW_003571052.1:g.281186_281187dup	NW_003571052.1:g.281185_281187dup	NW_003571052.1:g.281184_281187dup	NW_003571052.1:g.281183_281187dup	NW_003571052.1:g.281179_281187dup
DNAJC7 transcript variant 2	NM_001144766.2:c.312+350=	NM_001144766.2:c.312+335_312+350del	NM_001144766.2:c.312+338_312+350del	NM_001144766.2:c.312+339_312+350del	NM_001144766.2:c.312+340_312+350del	NM_001144766.2:c.312+341_312+350del	NM_001144766.2:c.312+342_312+350del	NM_001144766.2:c.312+343_312+350del	NM_001144766.2:c.312+344_312+350del	NM_001144766.2:c.312+345_312+350del	NM_001144766.2:c.312+346_312+350del	NM_001144766.2:c.312+347_312+350del	NM_001144766.2:c.312+348_312+350del	NM_001144766.2:c.312+349_312+350del	NM_001144766.2:c.312+350del	NM_001144766.2:c.312+350dup	NM_001144766.2:c.312+349_312+350dup	NM_001144766.2:c.312+348_312+350dup	NM_001144766.2:c.312+347_312+350dup	NM_001144766.2:c.312+346_312+350dup	NM_001144766.2:c.312+342_312+350dup
DNAJC7 transcript variant 2	NM_001144766.3:c.312+350=	NM_001144766.3:c.312+335_312+350del	NM_001144766.3:c.312+338_312+350del	NM_001144766.3:c.312+339_312+350del	NM_001144766.3:c.312+340_312+350del	NM_001144766.3:c.312+341_312+350del	NM_001144766.3:c.312+342_312+350del	NM_001144766.3:c.312+343_312+350del	NM_001144766.3:c.312+344_312+350del	NM_001144766.3:c.312+345_312+350del	NM_001144766.3:c.312+346_312+350del	NM_001144766.3:c.312+347_312+350del	NM_001144766.3:c.312+348_312+350del	NM_001144766.3:c.312+349_312+350del	NM_001144766.3:c.312+350del	NM_001144766.3:c.312+350dup	NM_001144766.3:c.312+349_312+350dup	NM_001144766.3:c.312+348_312+350dup	NM_001144766.3:c.312+347_312+350dup	NM_001144766.3:c.312+346_312+350dup	NM_001144766.3:c.312+342_312+350dup
DNAJC7 transcript variant 1	NM_003315.3:c.480+350=	NM_003315.3:c.480+335_480+350del	NM_003315.3:c.480+338_480+350del	NM_003315.3:c.480+339_480+350del	NM_003315.3:c.480+340_480+350del	NM_003315.3:c.480+341_480+350del	NM_003315.3:c.480+342_480+350del	NM_003315.3:c.480+343_480+350del	NM_003315.3:c.480+344_480+350del	NM_003315.3:c.480+345_480+350del	NM_003315.3:c.480+346_480+350del	NM_003315.3:c.480+347_480+350del	NM_003315.3:c.480+348_480+350del	NM_003315.3:c.480+349_480+350del	NM_003315.3:c.480+350del	NM_003315.3:c.480+350dup	NM_003315.3:c.480+349_480+350dup	NM_003315.3:c.480+348_480+350dup	NM_003315.3:c.480+347_480+350dup	NM_003315.3:c.480+346_480+350dup	NM_003315.3:c.480+342_480+350dup
DNAJC7 transcript variant 1	NM_003315.4:c.480+350=	NM_003315.4:c.480+335_480+350del	NM_003315.4:c.480+338_480+350del	NM_003315.4:c.480+339_480+350del	NM_003315.4:c.480+340_480+350del	NM_003315.4:c.480+341_480+350del	NM_003315.4:c.480+342_480+350del	NM_003315.4:c.480+343_480+350del	NM_003315.4:c.480+344_480+350del	NM_003315.4:c.480+345_480+350del	NM_003315.4:c.480+346_480+350del	NM_003315.4:c.480+347_480+350del	NM_003315.4:c.480+348_480+350del	NM_003315.4:c.480+349_480+350del	NM_003315.4:c.480+350del	NM_003315.4:c.480+350dup	NM_003315.4:c.480+349_480+350dup	NM_003315.4:c.480+348_480+350dup	NM_003315.4:c.480+347_480+350dup	NM_003315.4:c.480+346_480+350dup	NM_003315.4:c.480+342_480+350dup
DNAJC7 transcript variant X1	XM_011525167.4:c.312+350=	XM_011525167.4:c.312+335_312+350del	XM_011525167.4:c.312+338_312+350del	XM_011525167.4:c.312+339_312+350del	XM_011525167.4:c.312+340_312+350del	XM_011525167.4:c.312+341_312+350del	XM_011525167.4:c.312+342_312+350del	XM_011525167.4:c.312+343_312+350del	XM_011525167.4:c.312+344_312+350del	XM_011525167.4:c.312+345_312+350del	XM_011525167.4:c.312+346_312+350del	XM_011525167.4:c.312+347_312+350del	XM_011525167.4:c.312+348_312+350del	XM_011525167.4:c.312+349_312+350del	XM_011525167.4:c.312+350del	XM_011525167.4:c.312+350dup	XM_011525167.4:c.312+349_312+350dup	XM_011525167.4:c.312+348_312+350dup	XM_011525167.4:c.312+347_312+350dup	XM_011525167.4:c.312+346_312+350dup	XM_011525167.4:c.312+342_312+350dup
DNAJC7 transcript variant X3	XM_011525169.4:c.312+350=	XM_011525169.4:c.312+335_312+350del	XM_011525169.4:c.312+338_312+350del	XM_011525169.4:c.312+339_312+350del	XM_011525169.4:c.312+340_312+350del	XM_011525169.4:c.312+341_312+350del	XM_011525169.4:c.312+342_312+350del	XM_011525169.4:c.312+343_312+350del	XM_011525169.4:c.312+344_312+350del	XM_011525169.4:c.312+345_312+350del	XM_011525169.4:c.312+346_312+350del	XM_011525169.4:c.312+347_312+350del	XM_011525169.4:c.312+348_312+350del	XM_011525169.4:c.312+349_312+350del	XM_011525169.4:c.312+350del	XM_011525169.4:c.312+350dup	XM_011525169.4:c.312+349_312+350dup	XM_011525169.4:c.312+348_312+350dup	XM_011525169.4:c.312+347_312+350dup	XM_011525169.4:c.312+346_312+350dup	XM_011525169.4:c.312+342_312+350dup
DNAJC7 transcript variant X2	XM_017024994.3:c.312+350=	XM_017024994.3:c.312+335_312+350del	XM_017024994.3:c.312+338_312+350del	XM_017024994.3:c.312+339_312+350del	XM_017024994.3:c.312+340_312+350del	XM_017024994.3:c.312+341_312+350del	XM_017024994.3:c.312+342_312+350del	XM_017024994.3:c.312+343_312+350del	XM_017024994.3:c.312+344_312+350del	XM_017024994.3:c.312+345_312+350del	XM_017024994.3:c.312+346_312+350del	XM_017024994.3:c.312+347_312+350del	XM_017024994.3:c.312+348_312+350del	XM_017024994.3:c.312+349_312+350del	XM_017024994.3:c.312+350del	XM_017024994.3:c.312+350dup	XM_017024994.3:c.312+349_312+350dup	XM_017024994.3:c.312+348_312+350dup	XM_017024994.3:c.312+347_312+350dup	XM_017024994.3:c.312+346_312+350dup	XM_017024994.3:c.312+342_312+350dup

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#.

39 SubSNP, 29 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HUMANGENOME_JCVI	ss95694014	Feb 06, 2009 (130)
2	HUMANGENOME_JCVI	ss96567774	Feb 06, 2009 (130)
3	EVA	ss3834866781	Apr 27, 2020 (154)
4	GNOMAD	ss4311543955	Apr 27, 2021 (155)
5	GNOMAD	ss4311543956	Apr 27, 2021 (155)
6	GNOMAD	ss4311543957	Apr 27, 2021 (155)
7	GNOMAD	ss4311543958	Apr 27, 2021 (155)
8	GNOMAD	ss4311543959	Apr 27, 2021 (155)
9	GNOMAD	ss4311543960	Apr 27, 2021 (155)
10	GNOMAD	ss4311543961	Apr 27, 2021 (155)
11	GNOMAD	ss4311543962	Apr 27, 2021 (155)
12	GNOMAD	ss4311543963	Apr 27, 2021 (155)
13	GNOMAD	ss4311543964	Apr 27, 2021 (155)
14	GNOMAD	ss4311543965	Apr 27, 2021 (155)
15	GNOMAD	ss4311543966	Apr 27, 2021 (155)
16	GNOMAD	ss4311543967	Apr 27, 2021 (155)
17	GNOMAD	ss4311543968	Apr 27, 2021 (155)
18	GNOMAD	ss4311543969	Apr 27, 2021 (155)
19	GNOMAD	ss4311543970	Apr 27, 2021 (155)
20	TOPMED	ss5035880449	Apr 27, 2021 (155)
21	TOPMED	ss5035880450	Apr 27, 2021 (155)
22	TOMMO_GENOMICS	ss5222400159	Apr 27, 2021 (155)
23	TOMMO_GENOMICS	ss5222400160	Apr 27, 2021 (155)
24	TOMMO_GENOMICS	ss5222400161	Apr 27, 2021 (155)
25	TOMMO_GENOMICS	ss5222400162	Apr 27, 2021 (155)
26	TOMMO_GENOMICS	ss5222400163	Apr 27, 2021 (155)
27	1000G_HIGH_COVERAGE	ss5303123496	Oct 16, 2022 (156)
28	1000G_HIGH_COVERAGE	ss5303123497	Oct 16, 2022 (156)
29	1000G_HIGH_COVERAGE	ss5303123498	Oct 16, 2022 (156)
30	1000G_HIGH_COVERAGE	ss5303123499	Oct 16, 2022 (156)
31	1000G_HIGH_COVERAGE	ss5303123500	Oct 16, 2022 (156)
32	HUGCELL_USP	ss5496180687	Oct 16, 2022 (156)
33	HUGCELL_USP	ss5496180688	Oct 16, 2022 (156)
34	HUGCELL_USP	ss5496180690	Oct 16, 2022 (156)
35	TOMMO_GENOMICS	ss5778602322	Oct 16, 2022 (156)
36	TOMMO_GENOMICS	ss5778602323	Oct 16, 2022 (156)
37	TOMMO_GENOMICS	ss5778602324	Oct 16, 2022 (156)
38	TOMMO_GENOMICS	ss5778602325	Oct 16, 2022 (156)
39	TOMMO_GENOMICS	ss5778602327	Oct 16, 2022 (156)
40	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507150392 (NC_000017.11:41994519::A 1826/34814) Row 507150393 (NC_000017.11:41994519::AA 70/34988) Row 507150394 (NC_000017.11:41994519::AAA 26/35038)...	-	Apr 27, 2021 (155)
41	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507150392 (NC_000017.11:41994519::A 1826/34814) Row 507150393 (NC_000017.11:41994519::AA 70/34988) Row 507150394 (NC_000017.11:41994519::AAA 26/35038)...	-	Apr 27, 2021 (155)
42	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507150392 (NC_000017.11:41994519::A 1826/34814) Row 507150393 (NC_000017.11:41994519::AA 70/34988) Row 507150394 (NC_000017.11:41994519::AAA 26/35038)...	-	Apr 27, 2021 (155)
43	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507150392 (NC_000017.11:41994519::A 1826/34814) Row 507150393 (NC_000017.11:41994519::AA 70/34988) Row 507150394 (NC_000017.11:41994519::AAA 26/35038)...	-	Apr 27, 2021 (155)
44	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507150392 (NC_000017.11:41994519::A 1826/34814) Row 507150393 (NC_000017.11:41994519::AA 70/34988) Row 507150394 (NC_000017.11:41994519::AAA 26/35038)...	-	Apr 27, 2021 (155)
45	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507150392 (NC_000017.11:41994519::A 1826/34814) Row 507150393 (NC_000017.11:41994519::AA 70/34988) Row 507150394 (NC_000017.11:41994519::AAA 26/35038)...	-	Apr 27, 2021 (155)
46	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507150392 (NC_000017.11:41994519::A 1826/34814) Row 507150393 (NC_000017.11:41994519::AA 70/34988) Row 507150394 (NC_000017.11:41994519::AAA 26/35038)...	-	Apr 27, 2021 (155)
47	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507150392 (NC_000017.11:41994519::A 1826/34814) Row 507150393 (NC_000017.11:41994519::AA 70/34988) Row 507150394 (NC_000017.11:41994519::AAA 26/35038)...	-	Apr 27, 2021 (155)
48	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507150392 (NC_000017.11:41994519::A 1826/34814) Row 507150393 (NC_000017.11:41994519::AA 70/34988) Row 507150394 (NC_000017.11:41994519::AAA 26/35038)...	-	Apr 27, 2021 (155)
49	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507150392 (NC_000017.11:41994519::A 1826/34814) Row 507150393 (NC_000017.11:41994519::AA 70/34988) Row 507150394 (NC_000017.11:41994519::AAA 26/35038)...	-	Apr 27, 2021 (155)
50	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507150392 (NC_000017.11:41994519::A 1826/34814) Row 507150393 (NC_000017.11:41994519::AA 70/34988) Row 507150394 (NC_000017.11:41994519::AAA 26/35038)...	-	Apr 27, 2021 (155)
51	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507150392 (NC_000017.11:41994519::A 1826/34814) Row 507150393 (NC_000017.11:41994519::AA 70/34988) Row 507150394 (NC_000017.11:41994519::AAA 26/35038)...	-	Apr 27, 2021 (155)
52	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507150392 (NC_000017.11:41994519::A 1826/34814) Row 507150393 (NC_000017.11:41994519::AA 70/34988) Row 507150394 (NC_000017.11:41994519::AAA 26/35038)...	-	Apr 27, 2021 (155)
53	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507150392 (NC_000017.11:41994519::A 1826/34814) Row 507150393 (NC_000017.11:41994519::AA 70/34988) Row 507150394 (NC_000017.11:41994519::AAA 26/35038)...	-	Apr 27, 2021 (155)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507150392 (NC_000017.11:41994519::A 1826/34814) Row 507150393 (NC_000017.11:41994519::AA 70/34988) Row 507150394 (NC_000017.11:41994519::AAA 26/35038)...	-	Apr 27, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 507150392 (NC_000017.11:41994519::A 1826/34814) Row 507150393 (NC_000017.11:41994519::AA 70/34988) Row 507150394 (NC_000017.11:41994519::AAA 26/35038)...	-	Apr 27, 2021 (155)
56	8.3KJPN Submission ignored due to conflicting rows: Row 80369466 (NC_000017.10:40146537:AAAAAAAAAAA: 37/16470) Row 80369467 (NC_000017.10:40146537:AA: 910/16470) Row 80369468 (NC_000017.10:40146537:A: 98/16470)...	-	Apr 27, 2021 (155)
57	8.3KJPN Submission ignored due to conflicting rows: Row 80369466 (NC_000017.10:40146537:AAAAAAAAAAA: 37/16470) Row 80369467 (NC_000017.10:40146537:AA: 910/16470) Row 80369468 (NC_000017.10:40146537:A: 98/16470)...	-	Apr 27, 2021 (155)
58	8.3KJPN Submission ignored due to conflicting rows: Row 80369466 (NC_000017.10:40146537:AAAAAAAAAAA: 37/16470) Row 80369467 (NC_000017.10:40146537:AA: 910/16470) Row 80369468 (NC_000017.10:40146537:A: 98/16470)...	-	Apr 27, 2021 (155)
59	8.3KJPN Submission ignored due to conflicting rows: Row 80369466 (NC_000017.10:40146537:AAAAAAAAAAA: 37/16470) Row 80369467 (NC_000017.10:40146537:AA: 910/16470) Row 80369468 (NC_000017.10:40146537:A: 98/16470)...	-	Apr 27, 2021 (155)
60	8.3KJPN Submission ignored due to conflicting rows: Row 80369466 (NC_000017.10:40146537:AAAAAAAAAAA: 37/16470) Row 80369467 (NC_000017.10:40146537:AA: 910/16470) Row 80369468 (NC_000017.10:40146537:A: 98/16470)...	-	Apr 27, 2021 (155)
61	14KJPN Submission ignored due to conflicting rows: Row 112439426 (NC_000017.11:41994519:AAAAAAAAAAA: 70/27240) Row 112439427 (NC_000017.11:41994519:AA: 1836/27240) Row 112439428 (NC_000017.11:41994519::A 90/27240)...	-	Oct 16, 2022 (156)
62	14KJPN Submission ignored due to conflicting rows: Row 112439426 (NC_000017.11:41994519:AAAAAAAAAAA: 70/27240) Row 112439427 (NC_000017.11:41994519:AA: 1836/27240) Row 112439428 (NC_000017.11:41994519::A 90/27240)...	-	Oct 16, 2022 (156)
63	14KJPN Submission ignored due to conflicting rows: Row 112439426 (NC_000017.11:41994519:AAAAAAAAAAA: 70/27240) Row 112439427 (NC_000017.11:41994519:AA: 1836/27240) Row 112439428 (NC_000017.11:41994519::A 90/27240)...	-	Oct 16, 2022 (156)
64	14KJPN Submission ignored due to conflicting rows: Row 112439426 (NC_000017.11:41994519:AAAAAAAAAAA: 70/27240) Row 112439427 (NC_000017.11:41994519:AA: 1836/27240) Row 112439428 (NC_000017.11:41994519::A 90/27240)...	-	Oct 16, 2022 (156)
65	14KJPN Submission ignored due to conflicting rows: Row 112439426 (NC_000017.11:41994519:AAAAAAAAAAA: 70/27240) Row 112439427 (NC_000017.11:41994519:AA: 1836/27240) Row 112439428 (NC_000017.11:41994519::A 90/27240)...	-	Oct 16, 2022 (156)
66	TopMed Submission ignored due to conflicting rows: Row 251426111 (NC_000017.11:41994519:AAAAAAAAAA: 35/264690) Row 251426112 (NC_000017.11:41994519:AAAAAAAAAAAAA: 2/264690)	-	Apr 27, 2021 (155)
67	TopMed Submission ignored due to conflicting rows: Row 251426111 (NC_000017.11:41994519:AAAAAAAAAA: 35/264690) Row 251426112 (NC_000017.11:41994519:AAAAAAAAAAAAA: 2/264690)	-	Apr 27, 2021 (155)
68	ALFA	NC_000017.11 - 41994520	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)
rs68006926	Feb 27, 2009 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4311543970	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAA:	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
9914864935	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
ss5035880450	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAA:	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
9914864935	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4311543969	NC_000017.11:41994519:AAAAAAAAAAAA:	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
9914864935	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss5222400159	NC_000017.10:40146537:AAAAAAAAAAA:	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4311543968, ss5778602322	NC_000017.11:41994519:AAAAAAAAAAA:	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
9914864935	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4311543967, ss5035880449, ss5303123500	NC_000017.11:41994519:AAAAAAAAAA:	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
9914864935	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4311543966	NC_000017.11:41994519:AAAAAAAAA:	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
9914864935	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
9914864935	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
9914864935	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
9914864935	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss4311543965	NC_000017.11:41994519:AAAAA:	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
9914864935	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4311543964	NC_000017.11:41994519:AAAA:	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
9914864935	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss5222400163	NC_000017.10:40146537:AAA:	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4311543963, ss5303123499, ss5778602327	NC_000017.11:41994519:AAA:	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
9914864935	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3834866781, ss5222400160	NC_000017.10:40146537:AA:	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4311543962, ss5303123496, ss5496180688, ss5778602323	NC_000017.11:41994519:AA:	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
9914864935	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5222400161	NC_000017.10:40146537:A:	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4311543961, ss5303123498, ss5496180687, ss5778602325	NC_000017.11:41994519:A:	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
9914864935	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss95694014, ss96567774	NT_010783.15:5420714:A:	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5222400162	NC_000017.10:40146537::A	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4311543955, ss5303123497, ss5496180690, ss5778602324	NC_000017.11:41994519::A	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
9914864935	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4311543956	NC_000017.11:41994519::AA	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
9914864935	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4311543957	NC_000017.11:41994519::AAA	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
9914864935	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4311543958	NC_000017.11:41994519::AAAA	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4311543959	NC_000017.11:41994519::AAAAA	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
9914864935	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4311543960	NC_000017.11:41994519::AAAAAAAAA	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)

Removed from this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Destination RSIDs
ss2381929723	NC_000017.10:40146537:AAAAAAAAAA:	NC_000017.11:41994519:AAAAAAAAAAAA… NC_000017.11:41994519:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA

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

No publications for rs68006925

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.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs68006925