Name: rs34242695
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.

rs34242695

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chrX:150376877-150376890 (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: delAAA / delAA / delA / dupA / dup…
delAAA / delAA / delA / dupA / dupAA
Variation Type: Indel Insertion and Deletion
Frequency: delA=0.1139 (1131/9929, ALFA)
delA=0.3807 (1437/3775, 1000G)
delA=0.47 (19/40, GENOME_DK)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: MAMLD1 : 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	9929	AAAAAAAAAAAAAA=0.8861	AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.1139, AAAAAAAAAAAAAAA=0.0000	0.846185	0.074283	0.079532	32
European	Sub	8437	AAAAAAAAAAAAAA=0.8662	AAAAAAAAAAA=0.0000, AAAAAAAAAAAA=0.0000, AAAAAAAAAAAAA=0.1338, AAAAAAAAAAAAAAA=0.0000	0.819154	0.087215	0.093631	32
African	Sub	574	AAAAAAAAAAAAAA=1.000	AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
African Others	Sub	14	AAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African American	Sub	560	AAAAAAAAAAAAAA=1.000	AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
Asian	Sub	76	AAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
East Asian	Sub	62	AAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other Asian	Sub	14	AAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 1	Sub	74	AAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Latin American 2	Sub	440	AAAAAAAAAAAAAA=1.000	AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.000, AAAAAAAAAAAAAAA=0.000	1.0	0.0	0.0	N/A
South Asian	Sub	64	AAAAAAAAAAAAAA=1.00	AAAAAAAAAAA=0.00, AAAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Other	Sub	264	AAAAAAAAAAAAAA=0.992	AAAAAAAAAAA=0.000, AAAAAAAAAAAA=0.000, AAAAAAAAAAAAA=0.008, AAAAAAAAAAAAAAA=0.000	0.992424	0.007576	0.0	32

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	9929	(A)₁₄=0.8861	delAAA=0.0000, delAA=0.0000, delA=0.1139, dupA=0.0000
Allele Frequency Aggregator	European	Sub	8437	(A)₁₄=0.8662	delAAA=0.0000, delAA=0.0000, delA=0.1338, dupA=0.0000
Allele Frequency Aggregator	African	Sub	574	(A)₁₄=1.000	delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000
Allele Frequency Aggregator	Latin American 2	Sub	440	(A)₁₄=1.000	delAAA=0.000, delAA=0.000, delA=0.000, dupA=0.000
Allele Frequency Aggregator	Other	Sub	264	(A)₁₄=0.992	delAAA=0.000, delAA=0.000, delA=0.008, dupA=0.000
Allele Frequency Aggregator	Asian	Sub	76	(A)₁₄=1.00	delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00
Allele Frequency Aggregator	Latin American 1	Sub	74	(A)₁₄=1.00	delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00
Allele Frequency Aggregator	South Asian	Sub	64	(A)₁₄=1.00	delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00
1000Genomes	Global	Study-wide	3775	(A)₁₄=0.6193	delA=0.3807
1000Genomes	African	Sub	1003	(A)₁₄=0.3370	delA=0.6630
1000Genomes	Europe	Sub	766	(A)₁₄=0.659	delA=0.341
1000Genomes	East Asian	Sub	764	(A)₁₄=0.723	delA=0.277
1000Genomes	South Asian	Sub	718	(A)₁₄=0.762	delA=0.238
1000Genomes	American	Sub	524	(A)₁₄=0.756	delA=0.244
The Danish reference pan genome	Danish	Study-wide	40	(A)₁₄=0.53	delA=0.47

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 X	NC_000023.11:g.150376888_150376890del
GRCh38.p14 chr X	NC_000023.11:g.150376889_150376890del
GRCh38.p14 chr X	NC_000023.11:g.150376890del
GRCh38.p14 chr X	NC_000023.11:g.150376890dup
GRCh38.p14 chr X	NC_000023.11:g.150376889_150376890dup
GRCh37.p13 chr X fix patch HG1459_PATCH	NW_004070890.2:g.5901286_5901288del
GRCh37.p13 chr X fix patch HG1459_PATCH	NW_004070890.2:g.5901287_5901288del
GRCh37.p13 chr X fix patch HG1459_PATCH	NW_004070890.2:g.5901288del
GRCh37.p13 chr X fix patch HG1459_PATCH	NW_004070890.2:g.5901288dup
GRCh37.p13 chr X fix patch HG1459_PATCH	NW_004070890.2:g.5901287_5901288dup
MAMLD1 RefSeqGene	NG_017093.2:g.18591_18593del
MAMLD1 RefSeqGene	NG_017093.2:g.18592_18593del
MAMLD1 RefSeqGene	NG_017093.2:g.18593del
MAMLD1 RefSeqGene	NG_017093.2:g.18593dup
MAMLD1 RefSeqGene	NG_017093.2:g.18592_18593dup
GRCh37.p13 chr X	NC_000023.10:g.149545154_149545156del
GRCh37.p13 chr X	NC_000023.10:g.149545155_149545156del
GRCh37.p13 chr X	NC_000023.10:g.149545156del
GRCh37.p13 chr X	NC_000023.10:g.149545156dup
GRCh37.p13 chr X	NC_000023.10:g.149545155_149545156dup

Gene: MAMLD1, mastermind like domain containing 1 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
MAMLD1 transcript variant 1	NM_001177465.3:c.-64+1335… NM_001177465.3:c.-64+13358_-64+13360del	N/A	Intron Variant
MAMLD1 transcript variant 3	NM_001177466.3:c.-64+1400… NM_001177466.3:c.-64+14002_-64+14004del	N/A	Intron Variant
MAMLD1 transcript variant 4	NM_001400512.1:c.-64+1335… NM_001400512.1:c.-64+13358_-64+13360del	N/A	Intron Variant
MAMLD1 transcript variant 5	NM_001400513.1:c.-64+1400… NM_001400513.1:c.-64+14002_-64+14004del	N/A	Intron Variant
MAMLD1 transcript variant 6	NM_001400514.1:c.-64+1400… NM_001400514.1:c.-64+14002_-64+14004del	N/A	Intron Variant
MAMLD1 transcript variant 7	NM_001400515.1:c.-64+1400… NM_001400515.1:c.-64+14002_-64+14004del	N/A	Intron Variant
MAMLD1 transcript variant 2	NM_005491.5:c.-64+13358_-… NM_005491.5:c.-64+13358_-64+13360del	N/A	Intron Variant
MAMLD1 transcript variant X1	XM_011531092.4:c.-64+1400… XM_011531092.4:c.-64+14002_-64+14004del	N/A	Intron Variant
MAMLD1 transcript variant X2	XM_024452317.2:c.-64+1400… XM_024452317.2:c.-64+14002_-64+14004del	N/A	Intron Variant
MAMLD1 transcript variant X3	XM_047441709.1:c.-64+3021… XM_047441709.1:c.-64+3021_-64+3023del	N/A	Intron Variant
MAMLD1 transcript variant X4	XM_047441710.1:c.-64+1235… XM_047441710.1:c.-64+12359_-64+12361del	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)₁₄=	delAAA	delAA	delA	dupA	dupAA
GRCh38.p14 chr X	NC_000023.11:g.150376877_150376890=	NC_000023.11:g.150376888_150376890del	NC_000023.11:g.150376889_150376890del	NC_000023.11:g.150376890del	NC_000023.11:g.150376890dup	NC_000023.11:g.150376889_150376890dup
GRCh37.p13 chr X fix patch HG1459_PATCH	NW_004070890.2:g.5901275_5901288=	NW_004070890.2:g.5901286_5901288del	NW_004070890.2:g.5901287_5901288del	NW_004070890.2:g.5901288del	NW_004070890.2:g.5901288dup	NW_004070890.2:g.5901287_5901288dup
MAMLD1 RefSeqGene	NG_017093.2:g.18580_18593=	NG_017093.2:g.18591_18593del	NG_017093.2:g.18592_18593del	NG_017093.2:g.18593del	NG_017093.2:g.18593dup	NG_017093.2:g.18592_18593dup
GRCh37.p13 chr X	NC_000023.10:g.149545143_149545156=	NC_000023.10:g.149545154_149545156del	NC_000023.10:g.149545155_149545156del	NC_000023.10:g.149545156del	NC_000023.10:g.149545156dup	NC_000023.10:g.149545155_149545156dup
MAMLD1 transcript variant 1	NM_001177465.1:c.-64+13346=	NM_001177465.1:c.-64+13357_-64+13359del	NM_001177465.1:c.-64+13358_-64+13359del	NM_001177465.1:c.-64+13359del	NM_001177465.1:c.-64+13359dup	NM_001177465.1:c.-64+13358_-64+13359dup
MAMLD1 transcript variant 1	NM_001177465.3:c.-64+13347=	NM_001177465.3:c.-64+13358_-64+13360del	NM_001177465.3:c.-64+13359_-64+13360del	NM_001177465.3:c.-64+13360del	NM_001177465.3:c.-64+13360dup	NM_001177465.3:c.-64+13359_-64+13360dup
MAMLD1 transcript variant 3	NM_001177466.3:c.-64+13991=	NM_001177466.3:c.-64+14002_-64+14004del	NM_001177466.3:c.-64+14003_-64+14004del	NM_001177466.3:c.-64+14004del	NM_001177466.3:c.-64+14004dup	NM_001177466.3:c.-64+14003_-64+14004dup
MAMLD1 transcript variant 4	NM_001400512.1:c.-64+13347=	NM_001400512.1:c.-64+13358_-64+13360del	NM_001400512.1:c.-64+13359_-64+13360del	NM_001400512.1:c.-64+13360del	NM_001400512.1:c.-64+13360dup	NM_001400512.1:c.-64+13359_-64+13360dup
MAMLD1 transcript variant 5	NM_001400513.1:c.-64+13991=	NM_001400513.1:c.-64+14002_-64+14004del	NM_001400513.1:c.-64+14003_-64+14004del	NM_001400513.1:c.-64+14004del	NM_001400513.1:c.-64+14004dup	NM_001400513.1:c.-64+14003_-64+14004dup
MAMLD1 transcript variant 6	NM_001400514.1:c.-64+13991=	NM_001400514.1:c.-64+14002_-64+14004del	NM_001400514.1:c.-64+14003_-64+14004del	NM_001400514.1:c.-64+14004del	NM_001400514.1:c.-64+14004dup	NM_001400514.1:c.-64+14003_-64+14004dup
MAMLD1 transcript variant 7	NM_001400515.1:c.-64+13991=	NM_001400515.1:c.-64+14002_-64+14004del	NM_001400515.1:c.-64+14003_-64+14004del	NM_001400515.1:c.-64+14004del	NM_001400515.1:c.-64+14004dup	NM_001400515.1:c.-64+14003_-64+14004dup
MAMLD1 transcript variant 2	NM_005491.5:c.-64+13347=	NM_005491.5:c.-64+13358_-64+13360del	NM_005491.5:c.-64+13359_-64+13360del	NM_005491.5:c.-64+13360del	NM_005491.5:c.-64+13360dup	NM_005491.5:c.-64+13359_-64+13360dup
MAMLD1 transcript variant X1	XM_005274634.1:c.-64+13346=	XM_005274634.1:c.-64+13357_-64+13359del	XM_005274634.1:c.-64+13358_-64+13359del	XM_005274634.1:c.-64+13359del	XM_005274634.1:c.-64+13359dup	XM_005274634.1:c.-64+13358_-64+13359dup
MAMLD1 transcript variant X2	XM_005274635.1:c.-64+13990=	XM_005274635.1:c.-64+14001_-64+14003del	XM_005274635.1:c.-64+14002_-64+14003del	XM_005274635.1:c.-64+14003del	XM_005274635.1:c.-64+14003dup	XM_005274635.1:c.-64+14002_-64+14003dup
MAMLD1 transcript variant X3	XM_005274636.1:c.-64+13346=	XM_005274636.1:c.-64+13357_-64+13359del	XM_005274636.1:c.-64+13358_-64+13359del	XM_005274636.1:c.-64+13359del	XM_005274636.1:c.-64+13359dup	XM_005274636.1:c.-64+13358_-64+13359dup
MAMLD1 transcript variant X4	XM_005274637.1:c.-19+13346=	XM_005274637.1:c.-19+13357_-19+13359del	XM_005274637.1:c.-19+13358_-19+13359del	XM_005274637.1:c.-19+13359del	XM_005274637.1:c.-19+13359dup	XM_005274637.1:c.-19+13358_-19+13359dup
MAMLD1 transcript variant X5	XM_005274638.1:c.-19+13990=	XM_005274638.1:c.-19+14001_-19+14003del	XM_005274638.1:c.-19+14002_-19+14003del	XM_005274638.1:c.-19+14003del	XM_005274638.1:c.-19+14003dup	XM_005274638.1:c.-19+14002_-19+14003dup
MAMLD1 transcript variant X8	XM_005274641.1:c.-64+13346=	XM_005274641.1:c.-64+13357_-64+13359del	XM_005274641.1:c.-64+13358_-64+13359del	XM_005274641.1:c.-64+13359del	XM_005274641.1:c.-64+13359dup	XM_005274641.1:c.-64+13358_-64+13359dup
MAMLD1 transcript variant X2	XM_005278161.1:c.-64+13347=	XM_005278161.1:c.-64+13358_-64+13360del	XM_005278161.1:c.-64+13359_-64+13360del	XM_005278161.1:c.-64+13360del	XM_005278161.1:c.-64+13360dup	XM_005278161.1:c.-64+13359_-64+13360dup
MAMLD1 transcript variant X5	XM_005278164.1:c.-19+13991=	XM_005278164.1:c.-19+14002_-19+14004del	XM_005278164.1:c.-19+14003_-19+14004del	XM_005278164.1:c.-19+14004del	XM_005278164.1:c.-19+14004dup	XM_005278164.1:c.-19+14003_-19+14004dup
MAMLD1 transcript variant X6	XM_005278165.1:c.-64+13347=	XM_005278165.1:c.-64+13358_-64+13360del	XM_005278165.1:c.-64+13359_-64+13360del	XM_005278165.1:c.-64+13360del	XM_005278165.1:c.-64+13360dup	XM_005278165.1:c.-64+13359_-64+13360dup
MAMLD1 transcript variant X1	XM_011531092.4:c.-64+13991=	XM_011531092.4:c.-64+14002_-64+14004del	XM_011531092.4:c.-64+14003_-64+14004del	XM_011531092.4:c.-64+14004del	XM_011531092.4:c.-64+14004dup	XM_011531092.4:c.-64+14003_-64+14004dup
MAMLD1 transcript variant X2	XM_024452317.2:c.-64+13991=	XM_024452317.2:c.-64+14002_-64+14004del	XM_024452317.2:c.-64+14003_-64+14004del	XM_024452317.2:c.-64+14004del	XM_024452317.2:c.-64+14004dup	XM_024452317.2:c.-64+14003_-64+14004dup
MAMLD1 transcript variant X3	XM_047441709.1:c.-64+3010=	XM_047441709.1:c.-64+3021_-64+3023del	XM_047441709.1:c.-64+3022_-64+3023del	XM_047441709.1:c.-64+3023del	XM_047441709.1:c.-64+3023dup	XM_047441709.1:c.-64+3022_-64+3023dup
MAMLD1 transcript variant X4	XM_047441710.1:c.-64+12348=	XM_047441710.1:c.-64+12359_-64+12361del	XM_047441710.1:c.-64+12360_-64+12361del	XM_047441710.1:c.-64+12361del	XM_047441710.1:c.-64+12361dup	XM_047441710.1:c.-64+12360_-64+12361dup

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#.

31 SubSNP, 12 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	ABI	ss43866546	Mar 13, 2006 (126)
2	HGSV	ss81912583	Sep 08, 2015 (146)
3	GMI	ss478864208	May 04, 2012 (137)
4	SSMP	ss664553074	Apr 09, 2015 (144)
5	1000GENOMES	ss1556608572	Apr 09, 2015 (144)
6	EVA_GENOME_DK	ss1577663625	Apr 09, 2015 (144)
7	SWEGEN	ss3020791244	Oct 13, 2018 (152)
8	PACBIO	ss3788968972	Jul 14, 2019 (153)
9	PACBIO	ss3793837919	Jul 14, 2019 (153)
10	PACBIO	ss3798722861	Jul 14, 2019 (153)
11	KHV_HUMAN_GENOMES	ss3823503208	Jul 14, 2019 (153)
12	EVA	ss3836358697	Apr 27, 2020 (154)
13	EVA	ss3847317296	Apr 27, 2020 (154)
14	GNOMAD	ss4380741093	Apr 26, 2021 (155)
15	GNOMAD	ss4380741094	Apr 26, 2021 (155)
16	GNOMAD	ss4380741095	Apr 26, 2021 (155)
17	GNOMAD	ss4380741096	Apr 26, 2021 (155)
18	GNOMAD	ss4380741097	Apr 26, 2021 (155)
19	TOMMO_GENOMICS	ss5236720148	Apr 26, 2021 (155)
20	TOMMO_GENOMICS	ss5236720149	Apr 26, 2021 (155)
21	1000G_HIGH_COVERAGE	ss5314291871	Oct 13, 2022 (156)
22	1000G_HIGH_COVERAGE	ss5314291872	Oct 13, 2022 (156)
23	1000G_HIGH_COVERAGE	ss5314291873	Oct 13, 2022 (156)
24	1000G_HIGH_COVERAGE	ss5314291874	Oct 13, 2022 (156)
25	HUGCELL_USP	ss5505652932	Oct 13, 2022 (156)
26	HUGCELL_USP	ss5505652933	Oct 13, 2022 (156)
27	HUGCELL_USP	ss5505652934	Oct 13, 2022 (156)
28	TOMMO_GENOMICS	ss5799226713	Oct 13, 2022 (156)
29	TOMMO_GENOMICS	ss5799226714	Oct 13, 2022 (156)
30	YY_MCH	ss5819438111	Oct 13, 2022 (156)
31	EVA	ss5857235418	Oct 13, 2022 (156)
32	1000Genomes	NC_000023.10 - 149545143	Oct 13, 2018 (152)
33	The Danish reference pan genome	NC_000023.10 - 149545143	Apr 27, 2020 (154)
34	gnomAD - Genomes Submission ignored due to conflicting rows: Row 594022754 (NC_000023.11:150376876::A 59/86639) Row 594022755 (NC_000023.11:150376876::AA 2/86694) Row 594022756 (NC_000023.11:150376876:A: 37954/86495)...	-	Apr 26, 2021 (155)
35	gnomAD - Genomes Submission ignored due to conflicting rows: Row 594022754 (NC_000023.11:150376876::A 59/86639) Row 594022755 (NC_000023.11:150376876::AA 2/86694) Row 594022756 (NC_000023.11:150376876:A: 37954/86495)...	-	Apr 26, 2021 (155)
36	gnomAD - Genomes Submission ignored due to conflicting rows: Row 594022754 (NC_000023.11:150376876::A 59/86639) Row 594022755 (NC_000023.11:150376876::AA 2/86694) Row 594022756 (NC_000023.11:150376876:A: 37954/86495)...	-	Apr 26, 2021 (155)
37	gnomAD - Genomes Submission ignored due to conflicting rows: Row 594022754 (NC_000023.11:150376876::A 59/86639) Row 594022755 (NC_000023.11:150376876::AA 2/86694) Row 594022756 (NC_000023.11:150376876:A: 37954/86495)...	-	Apr 26, 2021 (155)
38	gnomAD - Genomes Submission ignored due to conflicting rows: Row 594022754 (NC_000023.11:150376876::A 59/86639) Row 594022755 (NC_000023.11:150376876::AA 2/86694) Row 594022756 (NC_000023.11:150376876:A: 37954/86495)...	-	Apr 26, 2021 (155)
39	8.3KJPN Submission ignored due to conflicting rows: Row 94689455 (NC_000023.10:149545142:A: 2928/12839) Row 94689456 (NC_000023.10:149545142::A 4/12839)	-	Apr 26, 2021 (155)
40	8.3KJPN Submission ignored due to conflicting rows: Row 94689455 (NC_000023.10:149545142:A: 2928/12839) Row 94689456 (NC_000023.10:149545142::A 4/12839)	-	Apr 26, 2021 (155)
41	14KJPN Submission ignored due to conflicting rows: Row 133063817 (NC_000023.11:150376876:A: 5048/22222) Row 133063818 (NC_000023.11:150376876::A 6/22222)	-	Oct 13, 2022 (156)
42	14KJPN Submission ignored due to conflicting rows: Row 133063817 (NC_000023.11:150376876:A: 5048/22222) Row 133063818 (NC_000023.11:150376876::A 6/22222)	-	Oct 13, 2022 (156)
43	ALFA	NC_000023.11 - 150376877	Apr 26, 2021 (155)

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

Associated ID	History Updated (Build)
rs60078221	May 11, 2012 (137)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4380741097, ss5314291874, ss5505652934	NC_000023.11:150376876:AAA:	NC_000023.11:150376876:AAAAAAAAAAA… NC_000023.11:150376876:AAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
56792739	NC_000023.11:150376876:AAAAAAAAAAA… NC_000023.11:150376876:AAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000023.11:150376876:AAAAAAAAAAA… NC_000023.11:150376876:AAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss4380741096, ss5314291873	NC_000023.11:150376876:AA:	NC_000023.11:150376876:AAAAAAAAAAA… NC_000023.11:150376876:AAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
56792739	NC_000023.11:150376876:AAAAAAAAAAA… NC_000023.11:150376876:AAAAAAAAAAAAAA:AAAAAAAAAAAA	NC_000023.11:150376876:AAAAAAAAAAA… NC_000023.11:150376876:AAAAAAAAAAAAAA:AAAAAAAAAAAA	(self)
ss81912583	NC_000023.8:149215723:A:	NC_000023.11:150376876:AAAAAAAAAAA… NC_000023.11:150376876:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss478864208	NC_000023.9:149295800:A:	NC_000023.11:150376876:AAAAAAAAAAA… NC_000023.11:150376876:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
84562683, 1353877, ss664553074, ss1556608572, ss1577663625, ss3020791244, ss3788968972, ss3793837919, ss3798722861, ss3836358697, ss5236720148	NC_000023.10:149545142:A:	NC_000023.11:150376876:AAAAAAAAAAA… NC_000023.11:150376876:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss3823503208, ss3847317296, ss4380741095, ss5314291871, ss5505652932, ss5799226713, ss5819438111, ss5857235418	NC_000023.11:150376876:A:	NC_000023.11:150376876:AAAAAAAAAAA… NC_000023.11:150376876:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
56792739	NC_000023.11:150376876:AAAAAAAAAAA… NC_000023.11:150376876:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000023.11:150376876:AAAAAAAAAAA… NC_000023.11:150376876:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss43866546	NT_167198.1:463080:A:	NC_000023.11:150376876:AAAAAAAAAAA… NC_000023.11:150376876:AAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss5236720149	NC_000023.10:149545142::A	NC_000023.11:150376876:AAAAAAAAAAA… NC_000023.11:150376876:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4380741093, ss5314291872, ss5505652933, ss5799226714	NC_000023.11:150376876::A	NC_000023.11:150376876:AAAAAAAAAAA… NC_000023.11:150376876:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
56792739	NC_000023.11:150376876:AAAAAAAAAAA… NC_000023.11:150376876:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000023.11:150376876:AAAAAAAAAAA… NC_000023.11:150376876:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4380741094	NC_000023.11:150376876::AA	NC_000023.11:150376876:AAAAAAAAAAA… NC_000023.11:150376876:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA	(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 rs34242695

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

rs34242695