Name: rs67432749
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.

rs67432749

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr1:202903160-202903185 (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)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)₇
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₁₃=0.000 (0/186, ALFA)
del(A)₁₂=0.000 (0/186, ALFA)
del(A)₁₁=0.000 (0/186, ALFA) (+ 13 more)
del(A)₁₀=0.000 (0/186, ALFA)
del(A)₉=0.000 (0/186, ALFA)
del(A)₈=0.000 (0/186, ALFA)
del(A)₆=0.000 (0/186, ALFA)
del(A)₅=0.000 (0/186, ALFA)
del(A)₄=0.000 (0/186, ALFA)
delAAA=0.000 (0/186, ALFA)
delAA=0.000 (0/186, ALFA)
delA=0.000 (0/186, ALFA)
dupA=0.000 (0/186, ALFA)
dupAA=0.000 (0/186, ALFA)
dupAAA=0.000 (0/186, ALFA)
dup(A)₄=0.000 (0/186, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: KLHL12 : 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	186	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.000	AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
European	Sub	66	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African	Sub	60	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African Others	Sub	4	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
African American	Sub	56	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Asian	Sub	4	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
East Asian	Sub	4	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Other Asian	Sub	0	AAAAAAAAAAAAAAAAAAAAAAAAAA=0	AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 1	Sub	2	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Latin American 2	Sub	44	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.00	AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=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, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
South Asian	Sub	2	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Other	Sub	8	AAAAAAAAAAAAAAAAAAAAAAAAAA=1.0	AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=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
Allele Frequency Aggregator	Total	Global	186	(A)₂₆=1.000	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)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)₄=0.000
Allele Frequency Aggregator	European	Sub	66	(A)₂₆=1.00	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)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)₄=0.00
Allele Frequency Aggregator	African	Sub	60	(A)₂₆=1.00	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)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)₄=0.00
Allele Frequency Aggregator	Latin American 2	Sub	44	(A)₂₆=1.00	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)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)₄=0.00
Allele Frequency Aggregator	Other	Sub	8	(A)₂₆=1.0	del(A)₁₃=0.0, del(A)₁₂=0.0, del(A)₁₁=0.0, del(A)₁₀=0.0, del(A)₉=0.0, del(A)₈=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, dupAAA=0.0, dup(A)₄=0.0
Allele Frequency Aggregator	Asian	Sub	4	(A)₂₆=1.0	del(A)₁₃=0.0, del(A)₁₂=0.0, del(A)₁₁=0.0, del(A)₁₀=0.0, del(A)₉=0.0, del(A)₈=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, dupAAA=0.0, dup(A)₄=0.0
Allele Frequency Aggregator	Latin American 1	Sub	2	(A)₂₆=1.0	del(A)₁₃=0.0, del(A)₁₂=0.0, del(A)₁₁=0.0, del(A)₁₀=0.0, del(A)₉=0.0, del(A)₈=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, dupAAA=0.0, dup(A)₄=0.0
Allele Frequency Aggregator	South Asian	Sub	2	(A)₂₆=1.0	del(A)₁₃=0.0, del(A)₁₂=0.0, del(A)₁₁=0.0, del(A)₁₀=0.0, del(A)₉=0.0, del(A)₈=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, dupAAA=0.0, dup(A)₄=0.0

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 1	NC_000001.11:g.202903173_202903185del
GRCh38.p14 chr 1	NC_000001.11:g.202903174_202903185del
GRCh38.p14 chr 1	NC_000001.11:g.202903175_202903185del
GRCh38.p14 chr 1	NC_000001.11:g.202903176_202903185del
GRCh38.p14 chr 1	NC_000001.11:g.202903177_202903185del
GRCh38.p14 chr 1	NC_000001.11:g.202903178_202903185del
GRCh38.p14 chr 1	NC_000001.11:g.202903179_202903185del
GRCh38.p14 chr 1	NC_000001.11:g.202903180_202903185del
GRCh38.p14 chr 1	NC_000001.11:g.202903181_202903185del
GRCh38.p14 chr 1	NC_000001.11:g.202903182_202903185del
GRCh38.p14 chr 1	NC_000001.11:g.202903183_202903185del
GRCh38.p14 chr 1	NC_000001.11:g.202903184_202903185del
GRCh38.p14 chr 1	NC_000001.11:g.202903185del
GRCh38.p14 chr 1	NC_000001.11:g.202903185dup
GRCh38.p14 chr 1	NC_000001.11:g.202903184_202903185dup
GRCh38.p14 chr 1	NC_000001.11:g.202903183_202903185dup
GRCh38.p14 chr 1	NC_000001.11:g.202903182_202903185dup
GRCh38.p14 chr 1	NC_000001.11:g.202903181_202903185dup
GRCh38.p14 chr 1	NC_000001.11:g.202903179_202903185dup
GRCh37.p13 chr 1	NC_000001.10:g.202872301_202872313del
GRCh37.p13 chr 1	NC_000001.10:g.202872302_202872313del
GRCh37.p13 chr 1	NC_000001.10:g.202872303_202872313del
GRCh37.p13 chr 1	NC_000001.10:g.202872304_202872313del
GRCh37.p13 chr 1	NC_000001.10:g.202872305_202872313del
GRCh37.p13 chr 1	NC_000001.10:g.202872306_202872313del
GRCh37.p13 chr 1	NC_000001.10:g.202872307_202872313del
GRCh37.p13 chr 1	NC_000001.10:g.202872308_202872313del
GRCh37.p13 chr 1	NC_000001.10:g.202872309_202872313del
GRCh37.p13 chr 1	NC_000001.10:g.202872310_202872313del
GRCh37.p13 chr 1	NC_000001.10:g.202872311_202872313del
GRCh37.p13 chr 1	NC_000001.10:g.202872312_202872313del
GRCh37.p13 chr 1	NC_000001.10:g.202872313del
GRCh37.p13 chr 1	NC_000001.10:g.202872313dup
GRCh37.p13 chr 1	NC_000001.10:g.202872312_202872313dup
GRCh37.p13 chr 1	NC_000001.10:g.202872311_202872313dup
GRCh37.p13 chr 1	NC_000001.10:g.202872310_202872313dup
GRCh37.p13 chr 1	NC_000001.10:g.202872309_202872313dup
GRCh37.p13 chr 1	NC_000001.10:g.202872307_202872313dup

Gene: KLHL12, kelch like family member 12 (minus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
KLHL12 transcript variant 1	NM_001303051.2:c.946+5838… NM_001303051.2:c.946+5838_946+5850del	N/A	Intron Variant
KLHL12 transcript variant 3	NM_001303109.2:c.832+5838… NM_001303109.2:c.832+5838_832+5850del	N/A	Intron Variant
KLHL12 transcript variant 2	NM_021633.4:c.832+5838_83… NM_021633.4:c.832+5838_832+5850del	N/A	Intron Variant
KLHL12 transcript variant X1	XM_011509835.3:c.997+5838… XM_011509835.3:c.997+5838_997+5850del	N/A	Intron Variant
KLHL12 transcript variant X2	XM_011509836.3:c.997+5838… XM_011509836.3:c.997+5838_997+5850del	N/A	Intron Variant
KLHL12 transcript variant X3	XM_011509837.3:c.997+5838… XM_011509837.3:c.997+5838_997+5850del	N/A	Intron Variant
KLHL12 transcript variant X4	XM_017001995.3:c.832+5838… XM_017001995.3:c.832+5838_832+5850del	N/A	Intron Variant
KLHL12 transcript variant X5	XM_047426918.1:c.997+5838… XM_047426918.1:c.997+5838_997+5850del	N/A	Intron Variant
KLHL12 transcript variant X6	XM_047426919.1:c.832+5838… XM_047426919.1:c.832+5838_832+5850del	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)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)₇
GRCh38.p14 chr 1	NC_000001.11:g.202903160_202903185=	NC_000001.11:g.202903173_202903185del	NC_000001.11:g.202903174_202903185del	NC_000001.11:g.202903175_202903185del	NC_000001.11:g.202903176_202903185del	NC_000001.11:g.202903177_202903185del	NC_000001.11:g.202903178_202903185del	NC_000001.11:g.202903179_202903185del	NC_000001.11:g.202903180_202903185del	NC_000001.11:g.202903181_202903185del	NC_000001.11:g.202903182_202903185del	NC_000001.11:g.202903183_202903185del	NC_000001.11:g.202903184_202903185del	NC_000001.11:g.202903185del	NC_000001.11:g.202903185dup	NC_000001.11:g.202903184_202903185dup	NC_000001.11:g.202903183_202903185dup	NC_000001.11:g.202903182_202903185dup	NC_000001.11:g.202903181_202903185dup	NC_000001.11:g.202903179_202903185dup
GRCh37.p13 chr 1	NC_000001.10:g.202872288_202872313=	NC_000001.10:g.202872301_202872313del	NC_000001.10:g.202872302_202872313del	NC_000001.10:g.202872303_202872313del	NC_000001.10:g.202872304_202872313del	NC_000001.10:g.202872305_202872313del	NC_000001.10:g.202872306_202872313del	NC_000001.10:g.202872307_202872313del	NC_000001.10:g.202872308_202872313del	NC_000001.10:g.202872309_202872313del	NC_000001.10:g.202872310_202872313del	NC_000001.10:g.202872311_202872313del	NC_000001.10:g.202872312_202872313del	NC_000001.10:g.202872313del	NC_000001.10:g.202872313dup	NC_000001.10:g.202872312_202872313dup	NC_000001.10:g.202872311_202872313dup	NC_000001.10:g.202872310_202872313dup	NC_000001.10:g.202872309_202872313dup	NC_000001.10:g.202872307_202872313dup
KLHL12 transcript variant 1	NM_001303051.2:c.946+5850=	NM_001303051.2:c.946+5838_946+5850del	NM_001303051.2:c.946+5839_946+5850del	NM_001303051.2:c.946+5840_946+5850del	NM_001303051.2:c.946+5841_946+5850del	NM_001303051.2:c.946+5842_946+5850del	NM_001303051.2:c.946+5843_946+5850del	NM_001303051.2:c.946+5844_946+5850del	NM_001303051.2:c.946+5845_946+5850del	NM_001303051.2:c.946+5846_946+5850del	NM_001303051.2:c.946+5847_946+5850del	NM_001303051.2:c.946+5848_946+5850del	NM_001303051.2:c.946+5849_946+5850del	NM_001303051.2:c.946+5850del	NM_001303051.2:c.946+5850dup	NM_001303051.2:c.946+5849_946+5850dup	NM_001303051.2:c.946+5848_946+5850dup	NM_001303051.2:c.946+5847_946+5850dup	NM_001303051.2:c.946+5846_946+5850dup	NM_001303051.2:c.946+5844_946+5850dup
KLHL12 transcript variant 3	NM_001303109.2:c.832+5850=	NM_001303109.2:c.832+5838_832+5850del	NM_001303109.2:c.832+5839_832+5850del	NM_001303109.2:c.832+5840_832+5850del	NM_001303109.2:c.832+5841_832+5850del	NM_001303109.2:c.832+5842_832+5850del	NM_001303109.2:c.832+5843_832+5850del	NM_001303109.2:c.832+5844_832+5850del	NM_001303109.2:c.832+5845_832+5850del	NM_001303109.2:c.832+5846_832+5850del	NM_001303109.2:c.832+5847_832+5850del	NM_001303109.2:c.832+5848_832+5850del	NM_001303109.2:c.832+5849_832+5850del	NM_001303109.2:c.832+5850del	NM_001303109.2:c.832+5850dup	NM_001303109.2:c.832+5849_832+5850dup	NM_001303109.2:c.832+5848_832+5850dup	NM_001303109.2:c.832+5847_832+5850dup	NM_001303109.2:c.832+5846_832+5850dup	NM_001303109.2:c.832+5844_832+5850dup
KLHL12 transcript	NM_021633.2:c.832+5850=	NM_021633.2:c.832+5838_832+5850del	NM_021633.2:c.832+5839_832+5850del	NM_021633.2:c.832+5840_832+5850del	NM_021633.2:c.832+5841_832+5850del	NM_021633.2:c.832+5842_832+5850del	NM_021633.2:c.832+5843_832+5850del	NM_021633.2:c.832+5844_832+5850del	NM_021633.2:c.832+5845_832+5850del	NM_021633.2:c.832+5846_832+5850del	NM_021633.2:c.832+5847_832+5850del	NM_021633.2:c.832+5848_832+5850del	NM_021633.2:c.832+5849_832+5850del	NM_021633.2:c.832+5850del	NM_021633.2:c.832+5850dup	NM_021633.2:c.832+5849_832+5850dup	NM_021633.2:c.832+5848_832+5850dup	NM_021633.2:c.832+5847_832+5850dup	NM_021633.2:c.832+5846_832+5850dup	NM_021633.2:c.832+5844_832+5850dup
KLHL12 transcript variant 2	NM_021633.4:c.832+5850=	NM_021633.4:c.832+5838_832+5850del	NM_021633.4:c.832+5839_832+5850del	NM_021633.4:c.832+5840_832+5850del	NM_021633.4:c.832+5841_832+5850del	NM_021633.4:c.832+5842_832+5850del	NM_021633.4:c.832+5843_832+5850del	NM_021633.4:c.832+5844_832+5850del	NM_021633.4:c.832+5845_832+5850del	NM_021633.4:c.832+5846_832+5850del	NM_021633.4:c.832+5847_832+5850del	NM_021633.4:c.832+5848_832+5850del	NM_021633.4:c.832+5849_832+5850del	NM_021633.4:c.832+5850del	NM_021633.4:c.832+5850dup	NM_021633.4:c.832+5849_832+5850dup	NM_021633.4:c.832+5848_832+5850dup	NM_021633.4:c.832+5847_832+5850dup	NM_021633.4:c.832+5846_832+5850dup	NM_021633.4:c.832+5844_832+5850dup
KLHL12 transcript variant X1	XM_005245403.1:c.946+5850=	XM_005245403.1:c.946+5838_946+5850del	XM_005245403.1:c.946+5839_946+5850del	XM_005245403.1:c.946+5840_946+5850del	XM_005245403.1:c.946+5841_946+5850del	XM_005245403.1:c.946+5842_946+5850del	XM_005245403.1:c.946+5843_946+5850del	XM_005245403.1:c.946+5844_946+5850del	XM_005245403.1:c.946+5845_946+5850del	XM_005245403.1:c.946+5846_946+5850del	XM_005245403.1:c.946+5847_946+5850del	XM_005245403.1:c.946+5848_946+5850del	XM_005245403.1:c.946+5849_946+5850del	XM_005245403.1:c.946+5850del	XM_005245403.1:c.946+5850dup	XM_005245403.1:c.946+5849_946+5850dup	XM_005245403.1:c.946+5848_946+5850dup	XM_005245403.1:c.946+5847_946+5850dup	XM_005245403.1:c.946+5846_946+5850dup	XM_005245403.1:c.946+5844_946+5850dup
KLHL12 transcript variant X1	XM_011509835.3:c.997+5850=	XM_011509835.3:c.997+5838_997+5850del	XM_011509835.3:c.997+5839_997+5850del	XM_011509835.3:c.997+5840_997+5850del	XM_011509835.3:c.997+5841_997+5850del	XM_011509835.3:c.997+5842_997+5850del	XM_011509835.3:c.997+5843_997+5850del	XM_011509835.3:c.997+5844_997+5850del	XM_011509835.3:c.997+5845_997+5850del	XM_011509835.3:c.997+5846_997+5850del	XM_011509835.3:c.997+5847_997+5850del	XM_011509835.3:c.997+5848_997+5850del	XM_011509835.3:c.997+5849_997+5850del	XM_011509835.3:c.997+5850del	XM_011509835.3:c.997+5850dup	XM_011509835.3:c.997+5849_997+5850dup	XM_011509835.3:c.997+5848_997+5850dup	XM_011509835.3:c.997+5847_997+5850dup	XM_011509835.3:c.997+5846_997+5850dup	XM_011509835.3:c.997+5844_997+5850dup
KLHL12 transcript variant X2	XM_011509836.3:c.997+5850=	XM_011509836.3:c.997+5838_997+5850del	XM_011509836.3:c.997+5839_997+5850del	XM_011509836.3:c.997+5840_997+5850del	XM_011509836.3:c.997+5841_997+5850del	XM_011509836.3:c.997+5842_997+5850del	XM_011509836.3:c.997+5843_997+5850del	XM_011509836.3:c.997+5844_997+5850del	XM_011509836.3:c.997+5845_997+5850del	XM_011509836.3:c.997+5846_997+5850del	XM_011509836.3:c.997+5847_997+5850del	XM_011509836.3:c.997+5848_997+5850del	XM_011509836.3:c.997+5849_997+5850del	XM_011509836.3:c.997+5850del	XM_011509836.3:c.997+5850dup	XM_011509836.3:c.997+5849_997+5850dup	XM_011509836.3:c.997+5848_997+5850dup	XM_011509836.3:c.997+5847_997+5850dup	XM_011509836.3:c.997+5846_997+5850dup	XM_011509836.3:c.997+5844_997+5850dup
KLHL12 transcript variant X3	XM_011509837.3:c.997+5850=	XM_011509837.3:c.997+5838_997+5850del	XM_011509837.3:c.997+5839_997+5850del	XM_011509837.3:c.997+5840_997+5850del	XM_011509837.3:c.997+5841_997+5850del	XM_011509837.3:c.997+5842_997+5850del	XM_011509837.3:c.997+5843_997+5850del	XM_011509837.3:c.997+5844_997+5850del	XM_011509837.3:c.997+5845_997+5850del	XM_011509837.3:c.997+5846_997+5850del	XM_011509837.3:c.997+5847_997+5850del	XM_011509837.3:c.997+5848_997+5850del	XM_011509837.3:c.997+5849_997+5850del	XM_011509837.3:c.997+5850del	XM_011509837.3:c.997+5850dup	XM_011509837.3:c.997+5849_997+5850dup	XM_011509837.3:c.997+5848_997+5850dup	XM_011509837.3:c.997+5847_997+5850dup	XM_011509837.3:c.997+5846_997+5850dup	XM_011509837.3:c.997+5844_997+5850dup
KLHL12 transcript variant X4	XM_017001995.3:c.832+5850=	XM_017001995.3:c.832+5838_832+5850del	XM_017001995.3:c.832+5839_832+5850del	XM_017001995.3:c.832+5840_832+5850del	XM_017001995.3:c.832+5841_832+5850del	XM_017001995.3:c.832+5842_832+5850del	XM_017001995.3:c.832+5843_832+5850del	XM_017001995.3:c.832+5844_832+5850del	XM_017001995.3:c.832+5845_832+5850del	XM_017001995.3:c.832+5846_832+5850del	XM_017001995.3:c.832+5847_832+5850del	XM_017001995.3:c.832+5848_832+5850del	XM_017001995.3:c.832+5849_832+5850del	XM_017001995.3:c.832+5850del	XM_017001995.3:c.832+5850dup	XM_017001995.3:c.832+5849_832+5850dup	XM_017001995.3:c.832+5848_832+5850dup	XM_017001995.3:c.832+5847_832+5850dup	XM_017001995.3:c.832+5846_832+5850dup	XM_017001995.3:c.832+5844_832+5850dup
KLHL12 transcript variant X5	XM_047426918.1:c.997+5850=	XM_047426918.1:c.997+5838_997+5850del	XM_047426918.1:c.997+5839_997+5850del	XM_047426918.1:c.997+5840_997+5850del	XM_047426918.1:c.997+5841_997+5850del	XM_047426918.1:c.997+5842_997+5850del	XM_047426918.1:c.997+5843_997+5850del	XM_047426918.1:c.997+5844_997+5850del	XM_047426918.1:c.997+5845_997+5850del	XM_047426918.1:c.997+5846_997+5850del	XM_047426918.1:c.997+5847_997+5850del	XM_047426918.1:c.997+5848_997+5850del	XM_047426918.1:c.997+5849_997+5850del	XM_047426918.1:c.997+5850del	XM_047426918.1:c.997+5850dup	XM_047426918.1:c.997+5849_997+5850dup	XM_047426918.1:c.997+5848_997+5850dup	XM_047426918.1:c.997+5847_997+5850dup	XM_047426918.1:c.997+5846_997+5850dup	XM_047426918.1:c.997+5844_997+5850dup
KLHL12 transcript variant X6	XM_047426919.1:c.832+5850=	XM_047426919.1:c.832+5838_832+5850del	XM_047426919.1:c.832+5839_832+5850del	XM_047426919.1:c.832+5840_832+5850del	XM_047426919.1:c.832+5841_832+5850del	XM_047426919.1:c.832+5842_832+5850del	XM_047426919.1:c.832+5843_832+5850del	XM_047426919.1:c.832+5844_832+5850del	XM_047426919.1:c.832+5845_832+5850del	XM_047426919.1:c.832+5846_832+5850del	XM_047426919.1:c.832+5847_832+5850del	XM_047426919.1:c.832+5848_832+5850del	XM_047426919.1:c.832+5849_832+5850del	XM_047426919.1:c.832+5850del	XM_047426919.1:c.832+5850dup	XM_047426919.1:c.832+5849_832+5850dup	XM_047426919.1:c.832+5848_832+5850dup	XM_047426919.1:c.832+5847_832+5850dup	XM_047426919.1:c.832+5846_832+5850dup	XM_047426919.1:c.832+5844_832+5850dup

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#.

53 SubSNP, 31 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HUMANGENOME_JCVI	ss95252355	Dec 05, 2013 (138)
2	PJP	ss294620747	May 09, 2011 (137)
3	SWEGEN	ss2988291968	Nov 08, 2017 (151)
4	MCHAISSO	ss3064439559	Nov 08, 2017 (151)
5	URBANLAB	ss3646865858	Oct 11, 2018 (152)
6	EVA_DECODE	ss3688439083	Jul 12, 2019 (153)
7	EVA_DECODE	ss3688439084	Jul 12, 2019 (153)
8	EVA_DECODE	ss3688439085	Jul 12, 2019 (153)
9	EVA_DECODE	ss3688439086	Jul 12, 2019 (153)
10	EVA_DECODE	ss3688439087	Jul 12, 2019 (153)
11	EVA_DECODE	ss3688439088	Jul 12, 2019 (153)
12	ACPOP	ss3727777586	Jul 12, 2019 (153)
13	ACPOP	ss3727777587	Jul 12, 2019 (153)
14	ACPOP	ss3727777588	Jul 12, 2019 (153)
15	PACBIO	ss3789278280	Jul 12, 2019 (153)
16	PACBIO	ss3794150517	Jul 12, 2019 (153)
17	EVA	ss3826594833	Apr 25, 2020 (154)
18	GNOMAD	ss4009593184	Apr 25, 2021 (155)
19	GNOMAD	ss4009593185	Apr 25, 2021 (155)
20	GNOMAD	ss4009593186	Apr 25, 2021 (155)
21	GNOMAD	ss4009593187	Apr 25, 2021 (155)
22	GNOMAD	ss4009593188	Apr 25, 2021 (155)
23	GNOMAD	ss4009593189	Apr 25, 2021 (155)
24	GNOMAD	ss4009593190	Apr 25, 2021 (155)
25	GNOMAD	ss4009593191	Apr 25, 2021 (155)
26	GNOMAD	ss4009593192	Apr 25, 2021 (155)
27	GNOMAD	ss4009593193	Apr 25, 2021 (155)
28	GNOMAD	ss4009593194	Apr 25, 2021 (155)
29	GNOMAD	ss4009593195	Apr 25, 2021 (155)
30	GNOMAD	ss4009593196	Apr 25, 2021 (155)
31	GNOMAD	ss4009593197	Apr 25, 2021 (155)
32	GNOMAD	ss4009593198	Apr 25, 2021 (155)
33	GNOMAD	ss4009593199	Apr 25, 2021 (155)
34	TOMMO_GENOMICS	ss5147997169	Apr 25, 2021 (155)
35	TOMMO_GENOMICS	ss5147997170	Apr 25, 2021 (155)
36	TOMMO_GENOMICS	ss5147997171	Apr 25, 2021 (155)
37	TOMMO_GENOMICS	ss5147997172	Apr 25, 2021 (155)
38	TOMMO_GENOMICS	ss5147997173	Apr 25, 2021 (155)
39	TOMMO_GENOMICS	ss5147997174	Apr 25, 2021 (155)
40	1000G_HIGH_COVERAGE	ss5245461217	Oct 12, 2022 (156)
41	1000G_HIGH_COVERAGE	ss5245461218	Oct 12, 2022 (156)
42	1000G_HIGH_COVERAGE	ss5245461219	Oct 12, 2022 (156)
43	1000G_HIGH_COVERAGE	ss5245461220	Oct 12, 2022 (156)
44	HUGCELL_USP	ss5445931654	Oct 12, 2022 (156)
45	HUGCELL_USP	ss5445931655	Oct 12, 2022 (156)
46	HUGCELL_USP	ss5445931656	Oct 12, 2022 (156)
47	HUGCELL_USP	ss5445931657	Oct 12, 2022 (156)
48	HUGCELL_USP	ss5445931658	Oct 12, 2022 (156)
49	TOMMO_GENOMICS	ss5675630683	Oct 12, 2022 (156)
50	TOMMO_GENOMICS	ss5675630684	Oct 12, 2022 (156)
51	TOMMO_GENOMICS	ss5675630685	Oct 12, 2022 (156)
52	TOMMO_GENOMICS	ss5675630686	Oct 12, 2022 (156)
53	TOMMO_GENOMICS	ss5675630687	Oct 12, 2022 (156)
54	gnomAD - Genomes Submission ignored due to conflicting rows: Row 36819652 (NC_000001.11:202903159::AA 282/48036) Row 36819653 (NC_000001.11:202903159::AAA 18/48046) Row 36819654 (NC_000001.11:202903159::AAAA 6/48050)...	-	Apr 25, 2021 (155)
55	gnomAD - Genomes Submission ignored due to conflicting rows: Row 36819652 (NC_000001.11:202903159::AA 282/48036) Row 36819653 (NC_000001.11:202903159::AAA 18/48046) Row 36819654 (NC_000001.11:202903159::AAAA 6/48050)...	-	Apr 25, 2021 (155)
56	gnomAD - Genomes Submission ignored due to conflicting rows: Row 36819652 (NC_000001.11:202903159::AA 282/48036) Row 36819653 (NC_000001.11:202903159::AAA 18/48046) Row 36819654 (NC_000001.11:202903159::AAAA 6/48050)...	-	Apr 25, 2021 (155)
57	gnomAD - Genomes Submission ignored due to conflicting rows: Row 36819652 (NC_000001.11:202903159::AA 282/48036) Row 36819653 (NC_000001.11:202903159::AAA 18/48046) Row 36819654 (NC_000001.11:202903159::AAAA 6/48050)...	-	Apr 25, 2021 (155)
58	gnomAD - Genomes Submission ignored due to conflicting rows: Row 36819652 (NC_000001.11:202903159::AA 282/48036) Row 36819653 (NC_000001.11:202903159::AAA 18/48046) Row 36819654 (NC_000001.11:202903159::AAAA 6/48050)...	-	Apr 25, 2021 (155)
59	gnomAD - Genomes Submission ignored due to conflicting rows: Row 36819652 (NC_000001.11:202903159::AA 282/48036) Row 36819653 (NC_000001.11:202903159::AAA 18/48046) Row 36819654 (NC_000001.11:202903159::AAAA 6/48050)...	-	Apr 25, 2021 (155)
60	gnomAD - Genomes Submission ignored due to conflicting rows: Row 36819652 (NC_000001.11:202903159::AA 282/48036) Row 36819653 (NC_000001.11:202903159::AAA 18/48046) Row 36819654 (NC_000001.11:202903159::AAAA 6/48050)...	-	Apr 25, 2021 (155)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 36819652 (NC_000001.11:202903159::AA 282/48036) Row 36819653 (NC_000001.11:202903159::AAA 18/48046) Row 36819654 (NC_000001.11:202903159::AAAA 6/48050)...	-	Apr 25, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 36819652 (NC_000001.11:202903159::AA 282/48036) Row 36819653 (NC_000001.11:202903159::AAA 18/48046) Row 36819654 (NC_000001.11:202903159::AAAA 6/48050)...	-	Apr 25, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 36819652 (NC_000001.11:202903159::AA 282/48036) Row 36819653 (NC_000001.11:202903159::AAA 18/48046) Row 36819654 (NC_000001.11:202903159::AAAA 6/48050)...	-	Apr 25, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 36819652 (NC_000001.11:202903159::AA 282/48036) Row 36819653 (NC_000001.11:202903159::AAA 18/48046) Row 36819654 (NC_000001.11:202903159::AAAA 6/48050)...	-	Apr 25, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 36819652 (NC_000001.11:202903159::AA 282/48036) Row 36819653 (NC_000001.11:202903159::AAA 18/48046) Row 36819654 (NC_000001.11:202903159::AAAA 6/48050)...	-	Apr 25, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 36819652 (NC_000001.11:202903159::AA 282/48036) Row 36819653 (NC_000001.11:202903159::AAA 18/48046) Row 36819654 (NC_000001.11:202903159::AAAA 6/48050)...	-	Apr 25, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 36819652 (NC_000001.11:202903159::AA 282/48036) Row 36819653 (NC_000001.11:202903159::AAA 18/48046) Row 36819654 (NC_000001.11:202903159::AAAA 6/48050)...	-	Apr 25, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 36819652 (NC_000001.11:202903159::AA 282/48036) Row 36819653 (NC_000001.11:202903159::AAA 18/48046) Row 36819654 (NC_000001.11:202903159::AAAA 6/48050)...	-	Apr 25, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 36819652 (NC_000001.11:202903159::AA 282/48036) Row 36819653 (NC_000001.11:202903159::AAA 18/48046) Row 36819654 (NC_000001.11:202903159::AAAA 6/48050)...	-	Apr 25, 2021 (155)
70	Northern Sweden Submission ignored due to conflicting rows: Row 1062451 (NC_000001.10:202872287:A: 243/542) Row 1062452 (NC_000001.10:202872287::A 45/542) Row 1062453 (NC_000001.10:202872287:AAA: 9/542)	-	Jul 12, 2019 (153)
71	Northern Sweden Submission ignored due to conflicting rows: Row 1062451 (NC_000001.10:202872287:A: 243/542) Row 1062452 (NC_000001.10:202872287::A 45/542) Row 1062453 (NC_000001.10:202872287:AAA: 9/542)	-	Jul 12, 2019 (153)
72	Northern Sweden Submission ignored due to conflicting rows: Row 1062451 (NC_000001.10:202872287:A: 243/542) Row 1062452 (NC_000001.10:202872287::A 45/542) Row 1062453 (NC_000001.10:202872287:AAA: 9/542)	-	Jul 12, 2019 (153)
73	8.3KJPN Submission ignored due to conflicting rows: Row 5966476 (NC_000001.10:202872287:A: 5447/14944) Row 5966477 (NC_000001.10:202872287::A 693/14944) Row 5966478 (NC_000001.10:202872287:AAA: 1602/14944)...	-	Apr 25, 2021 (155)
74	8.3KJPN Submission ignored due to conflicting rows: Row 5966476 (NC_000001.10:202872287:A: 5447/14944) Row 5966477 (NC_000001.10:202872287::A 693/14944) Row 5966478 (NC_000001.10:202872287:AAA: 1602/14944)...	-	Apr 25, 2021 (155)
75	8.3KJPN Submission ignored due to conflicting rows: Row 5966476 (NC_000001.10:202872287:A: 5447/14944) Row 5966477 (NC_000001.10:202872287::A 693/14944) Row 5966478 (NC_000001.10:202872287:AAA: 1602/14944)...	-	Apr 25, 2021 (155)
76	8.3KJPN Submission ignored due to conflicting rows: Row 5966476 (NC_000001.10:202872287:A: 5447/14944) Row 5966477 (NC_000001.10:202872287::A 693/14944) Row 5966478 (NC_000001.10:202872287:AAA: 1602/14944)...	-	Apr 25, 2021 (155)
77	8.3KJPN Submission ignored due to conflicting rows: Row 5966476 (NC_000001.10:202872287:A: 5447/14944) Row 5966477 (NC_000001.10:202872287::A 693/14944) Row 5966478 (NC_000001.10:202872287:AAA: 1602/14944)...	-	Apr 25, 2021 (155)
78	8.3KJPN Submission ignored due to conflicting rows: Row 5966476 (NC_000001.10:202872287:A: 5447/14944) Row 5966477 (NC_000001.10:202872287::A 693/14944) Row 5966478 (NC_000001.10:202872287:AAA: 1602/14944)...	-	Apr 25, 2021 (155)
79	14KJPN Submission ignored due to conflicting rows: Row 9467787 (NC_000001.11:202903159:AAA: 3372/27484) Row 9467788 (NC_000001.11:202903159:A: 11825/27484) Row 9467789 (NC_000001.11:202903159:AA: 860/27484)...	-	Oct 12, 2022 (156)
80	14KJPN Submission ignored due to conflicting rows: Row 9467787 (NC_000001.11:202903159:AAA: 3372/27484) Row 9467788 (NC_000001.11:202903159:A: 11825/27484) Row 9467789 (NC_000001.11:202903159:AA: 860/27484)...	-	Oct 12, 2022 (156)
81	14KJPN Submission ignored due to conflicting rows: Row 9467787 (NC_000001.11:202903159:AAA: 3372/27484) Row 9467788 (NC_000001.11:202903159:A: 11825/27484) Row 9467789 (NC_000001.11:202903159:AA: 860/27484)...	-	Oct 12, 2022 (156)
82	14KJPN Submission ignored due to conflicting rows: Row 9467787 (NC_000001.11:202903159:AAA: 3372/27484) Row 9467788 (NC_000001.11:202903159:A: 11825/27484) Row 9467789 (NC_000001.11:202903159:AA: 860/27484)...	-	Oct 12, 2022 (156)
83	14KJPN Submission ignored due to conflicting rows: Row 9467787 (NC_000001.11:202903159:AAA: 3372/27484) Row 9467788 (NC_000001.11:202903159:A: 11825/27484) Row 9467789 (NC_000001.11:202903159:AA: 860/27484)...	-	Oct 12, 2022 (156)
84	ALFA	NC_000001.11 - 202903160	Apr 25, 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)
rs67432750	Feb 27, 2009 (130)
rs149076614	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4009593199	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAA:	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
9545105239	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4009593198	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAA:	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
9545105239	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss4009593197	NC_000001.11:202903159:AAAAAAAAAAA:	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
9545105239	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4009593196	NC_000001.11:202903159:AAAAAAAAAA:	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
9545105239	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(self)
ss4009593195	NC_000001.11:202903159:AAAAAAAAA:	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
9545105239	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4009593194	NC_000001.11:202903159:AAAAAAAA:	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
9545105239	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss4009593193	NC_000001.11:202903159:AAAAAAA:	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss4009593192	NC_000001.11:202903159:AAAAAA:	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
9545105239	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA	(self)
ss3688439088, ss4009593191	NC_000001.11:202903159:AAAAA:	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
9545105239	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss5147997174	NC_000001.10:202872287:AAAA:	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss4009593190, ss5245461220, ss5445931658	NC_000001.11:202903159:AAAA:	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
9545105239	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss3688439087	NC_000001.11:202903160:AAAA:	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA	(self)
ss2988291968, ss3727777588, ss5147997171	NC_000001.10:202872287:AAA:	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4009593189, ss5245461218, ss5445931657, ss5675630683	NC_000001.11:202903159:AAA:	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
9545105239	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3688439086	NC_000001.11:202903161:AAA:	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5147997173	NC_000001.10:202872287:AA:	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5245461217, ss5445931655, ss5675630685	NC_000001.11:202903159:AA:	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
9545105239	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3688439085	NC_000001.11:202903162:AA:	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss294620747	NC_000001.9:201138910:A:	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3727777586, ss3789278280, ss3794150517, ss3826594833, ss5147997169	NC_000001.10:202872287:A:	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3064439559, ss3646865858, ss5445931654, ss5675630684	NC_000001.11:202903159:A:	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
9545105239	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3688439084	NC_000001.11:202903163:A:	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss95252355	NT_004487.19:54360954:A:	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3727777587, ss5147997170	NC_000001.10:202872287::A	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5445931656, ss5675630687	NC_000001.11:202903159::A	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
9545105239	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss3688439083	NC_000001.11:202903164::A	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5147997172	NC_000001.10:202872287::AA	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4009593184, ss5245461219, ss5675630686	NC_000001.11:202903159::AA	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
9545105239	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4009593185	NC_000001.11:202903159::AAA	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
9545105239	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4009593186	NC_000001.11:202903159::AAAA	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
9545105239	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4009593187	NC_000001.11:202903159::AAAAA	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4009593188	NC_000001.11:202903159::AAAAAAA	NC_000001.11:202903159:AAAAAAAAAAA… NC_000001.11:202903159:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(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 rs67432749

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

rs67432749