Name: rs71216651
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.

rs71216651

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr8:38137390-38137405 (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)₁₂ / del(A)₁₁ / del(A)₁₀ / d…
del(A)₁₂ / del(A)₁₁ / del(A)₁₀ / del(A)₉ / del(A)₈ / del(A)₇ / del(A)₆ / del(A)₅ / delAAA / delAA / delA / dupA / dupAA / dupAAA / dup(A)₅ / dup(A)₇ / dup(A)₈ / dup(A)₉ / dup(A)₁₀ / dup(A)₁₁ / dup(A)₁₂ / dup(A)₁₃ / dup(A)₁₄ / dup(A)₁₅
Variation Type: Indel Insertion and Deletion
Frequency: del(A)₁₂=0.00 (0/66, ALFA)
del(A)₁₁=0.00 (0/66, ALFA)
del(A)₁₀=0.00 (0/66, ALFA) (+ 11 more)
del(A)₉=0.00 (0/66, ALFA)
del(A)₈=0.00 (0/66, ALFA)
del(A)₇=0.00 (0/66, ALFA)
del(A)₆=0.00 (0/66, ALFA)
del(A)₅=0.00 (0/66, ALFA)
delAAA=0.00 (0/66, ALFA)
delAA=0.00 (0/66, ALFA)
delA=0.00 (0/66, ALFA)
dupA=0.00 (0/66, ALFA)
dupAA=0.00 (0/66, ALFA)
dupAAA=0.00 (0/66, ALFA)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: ASH2L : 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	66	AAAAAAAAAAAAAAAA=1.00	AAAA=0.00, AAAAA=0.00, AAAAAA=0.00, AAAAAAA=0.00, AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
European	Sub	6	AAAAAAAAAAAAAAAA=1.0	AAAA=0.0, AAAAA=0.0, AAAAAA=0.0, AAAAAAA=0.0, AAAAAAAA=0.0, AAAAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
African	Sub	50	AAAAAAAAAAAAAAAA=1.00	AAAA=0.00, AAAAA=0.00, AAAAAA=0.00, AAAAAAA=0.00, AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
African Others	Sub	6	AAAAAAAAAAAAAAAA=1.0	AAAA=0.0, AAAAA=0.0, AAAAAA=0.0, AAAAAAA=0.0, AAAAAAAA=0.0, AAAAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
African American	Sub	44	AAAAAAAAAAAAAAAA=1.00	AAAA=0.00, AAAAA=0.00, AAAAAA=0.00, AAAAAAA=0.00, AAAAAAAA=0.00, AAAAAAAAA=0.00, AAAAAAAAAA=0.00, AAAAAAAAAAA=0.00, AAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAA=0.00, AAAAAAAAAAAAAAAAAAA=0.00	1.0	0.0	0.0	N/A
Asian	Sub	0	AAAAAAAAAAAAAAAA=0	AAAA=0, AAAAA=0, AAAAAA=0, AAAAAAA=0, AAAAAAAA=0, AAAAAAAAA=0, AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
East Asian	Sub	0	AAAAAAAAAAAAAAAA=0	AAAA=0, AAAAA=0, AAAAAA=0, AAAAAAA=0, AAAAAAAA=0, AAAAAAAAA=0, AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Other Asian	Sub	0	AAAAAAAAAAAAAAAA=0	AAAA=0, AAAAA=0, AAAAAA=0, AAAAAAA=0, AAAAAAAA=0, AAAAAAAAA=0, AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 1	Sub	0	AAAAAAAAAAAAAAAA=0	AAAA=0, AAAAA=0, AAAAAA=0, AAAAAAA=0, AAAAAAAA=0, AAAAAAAAA=0, AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
Latin American 2	Sub	0	AAAAAAAAAAAAAAAA=0	AAAA=0, AAAAA=0, AAAAAA=0, AAAAAAA=0, AAAAAAAA=0, AAAAAAAAA=0, AAAAAAAAAA=0, AAAAAAAAAAA=0, AAAAAAAAAAAAA=0, AAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAA=0, AAAAAAAAAAAAAAAAAAA=0	0	0	0	N/A
South Asian	Sub	2	AAAAAAAAAAAAAAAA=1.0	AAAA=0.0, AAAAA=0.0, AAAAAA=0.0, AAAAAAA=0.0, AAAAAAAA=0.0, AAAAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=0.0	1.0	0.0	0.0	N/A
Other	Sub	8	AAAAAAAAAAAAAAAA=1.0	AAAA=0.0, AAAAA=0.0, AAAAAA=0.0, AAAAAAA=0.0, AAAAAAAA=0.0, AAAAAAAAA=0.0, AAAAAAAAAA=0.0, AAAAAAAAAAA=0.0, AAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAA=0.0, AAAAAAAAAAAAAAAAAAA=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	66	(A)₁₆=1.00	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, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	African	Sub	50	(A)₁₆=1.00	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, delAAA=0.00, delAA=0.00, delA=0.00, dupA=0.00, dupAA=0.00, dupAAA=0.00
Allele Frequency Aggregator	Other	Sub	8	(A)₁₆=1.0	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)₇=0.0, del(A)₆=0.0, del(A)₅=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0
Allele Frequency Aggregator	European	Sub	6	(A)₁₆=1.0	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)₇=0.0, del(A)₆=0.0, del(A)₅=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0
Allele Frequency Aggregator	South Asian	Sub	2	(A)₁₆=1.0	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)₇=0.0, del(A)₆=0.0, del(A)₅=0.0, delAAA=0.0, delAA=0.0, delA=0.0, dupA=0.0, dupAA=0.0, dupAAA=0.0
Allele Frequency Aggregator	Latin American 1	Sub	0	(A)₁₆=0	del(A)₁₂=0, del(A)₁₁=0, del(A)₁₀=0, del(A)₉=0, del(A)₈=0, del(A)₇=0, del(A)₆=0, del(A)₅=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0
Allele Frequency Aggregator	Latin American 2	Sub	0	(A)₁₆=0	del(A)₁₂=0, del(A)₁₁=0, del(A)₁₀=0, del(A)₉=0, del(A)₈=0, del(A)₇=0, del(A)₆=0, del(A)₅=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=0
Allele Frequency Aggregator	Asian	Sub	0	(A)₁₆=0	del(A)₁₂=0, del(A)₁₁=0, del(A)₁₀=0, del(A)₉=0, del(A)₈=0, del(A)₇=0, del(A)₆=0, del(A)₅=0, delAAA=0, delAA=0, delA=0, dupA=0, dupAA=0, dupAAA=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 8	NC_000008.11:g.38137394_38137405del
GRCh38.p14 chr 8	NC_000008.11:g.38137395_38137405del
GRCh38.p14 chr 8	NC_000008.11:g.38137396_38137405del
GRCh38.p14 chr 8	NC_000008.11:g.38137397_38137405del
GRCh38.p14 chr 8	NC_000008.11:g.38137398_38137405del
GRCh38.p14 chr 8	NC_000008.11:g.38137399_38137405del
GRCh38.p14 chr 8	NC_000008.11:g.38137400_38137405del
GRCh38.p14 chr 8	NC_000008.11:g.38137401_38137405del
GRCh38.p14 chr 8	NC_000008.11:g.38137403_38137405del
GRCh38.p14 chr 8	NC_000008.11:g.38137404_38137405del
GRCh38.p14 chr 8	NC_000008.11:g.38137405del
GRCh38.p14 chr 8	NC_000008.11:g.38137405dup
GRCh38.p14 chr 8	NC_000008.11:g.38137404_38137405dup
GRCh38.p14 chr 8	NC_000008.11:g.38137403_38137405dup
GRCh38.p14 chr 8	NC_000008.11:g.38137401_38137405dup
GRCh38.p14 chr 8	NC_000008.11:g.38137399_38137405dup
GRCh38.p14 chr 8	NC_000008.11:g.38137398_38137405dup
GRCh38.p14 chr 8	NC_000008.11:g.38137397_38137405dup
GRCh38.p14 chr 8	NC_000008.11:g.38137396_38137405dup
GRCh38.p14 chr 8	NC_000008.11:g.38137395_38137405dup
GRCh38.p14 chr 8	NC_000008.11:g.38137394_38137405dup
GRCh38.p14 chr 8	NC_000008.11:g.38137393_38137405dup
GRCh38.p14 chr 8	NC_000008.11:g.38137392_38137405dup
GRCh38.p14 chr 8	NC_000008.11:g.38137391_38137405dup
GRCh37.p13 chr 8	NC_000008.10:g.37994912_37994923del
GRCh37.p13 chr 8	NC_000008.10:g.37994913_37994923del
GRCh37.p13 chr 8	NC_000008.10:g.37994914_37994923del
GRCh37.p13 chr 8	NC_000008.10:g.37994915_37994923del
GRCh37.p13 chr 8	NC_000008.10:g.37994916_37994923del
GRCh37.p13 chr 8	NC_000008.10:g.37994917_37994923del
GRCh37.p13 chr 8	NC_000008.10:g.37994918_37994923del
GRCh37.p13 chr 8	NC_000008.10:g.37994919_37994923del
GRCh37.p13 chr 8	NC_000008.10:g.37994921_37994923del
GRCh37.p13 chr 8	NC_000008.10:g.37994922_37994923del
GRCh37.p13 chr 8	NC_000008.10:g.37994923del
GRCh37.p13 chr 8	NC_000008.10:g.37994923dup
GRCh37.p13 chr 8	NC_000008.10:g.37994922_37994923dup
GRCh37.p13 chr 8	NC_000008.10:g.37994921_37994923dup
GRCh37.p13 chr 8	NC_000008.10:g.37994919_37994923dup
GRCh37.p13 chr 8	NC_000008.10:g.37994917_37994923dup
GRCh37.p13 chr 8	NC_000008.10:g.37994916_37994923dup
GRCh37.p13 chr 8	NC_000008.10:g.37994915_37994923dup
GRCh37.p13 chr 8	NC_000008.10:g.37994914_37994923dup
GRCh37.p13 chr 8	NC_000008.10:g.37994913_37994923dup
GRCh37.p13 chr 8	NC_000008.10:g.37994912_37994923dup
GRCh37.p13 chr 8	NC_000008.10:g.37994911_37994923dup
GRCh37.p13 chr 8	NC_000008.10:g.37994910_37994923dup
GRCh37.p13 chr 8	NC_000008.10:g.37994909_37994923dup

Gene: ASH2L, ASH2 like, histone lysine methyltransferase complex subunit (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
ASH2L transcript variant 2	NM_001105214.2:c.1438-142… NM_001105214.2:c.1438-1422_1438-1411del	N/A	Intron Variant
ASH2L transcript variant 3	NM_001261832.1:c.1339-142… NM_001261832.1:c.1339-1422_1339-1411del	N/A	Intron Variant
ASH2L transcript variant 4	NM_001282272.1:c.1303-142… NM_001282272.1:c.1303-1422_1303-1411del	N/A	Intron Variant
ASH2L transcript variant 1	NM_004674.5:c.1720-1422_1… NM_004674.5:c.1720-1422_1720-1411del	N/A	Intron Variant
ASH2L transcript variant X1	XM_005273682.2:c.1738-142… XM_005273682.2:c.1738-1422_1738-1411del	N/A	Intron Variant
ASH2L transcript variant X4	XM_005273683.2:c.1456-142… XM_005273683.2:c.1456-1422_1456-1411del	N/A	Intron Variant
ASH2L transcript variant X2	XM_006716412.2:c.1639-142… XM_006716412.2:c.1639-1422_1639-1411del	N/A	Intron Variant
ASH2L transcript variant X3	XM_006716413.4:c.1621-142… XM_006716413.4:c.1621-1422_1621-1411del	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)₁₆=	del(A)₁₂	del(A)₁₁	del(A)₁₀	del(A)₉	del(A)₈	del(A)₇	del(A)₆	del(A)₅	delAAA	delAA	delA	dupA	dupAA	dupAAA	dup(A)₅	dup(A)₇	dup(A)₈	dup(A)₉	dup(A)₁₀	dup(A)₁₁	dup(A)₁₂	dup(A)₁₃	dup(A)₁₄	dup(A)₁₅
GRCh38.p14 chr 8	NC_000008.11:g.38137390_38137405=	NC_000008.11:g.38137394_38137405del	NC_000008.11:g.38137395_38137405del	NC_000008.11:g.38137396_38137405del	NC_000008.11:g.38137397_38137405del	NC_000008.11:g.38137398_38137405del	NC_000008.11:g.38137399_38137405del	NC_000008.11:g.38137400_38137405del	NC_000008.11:g.38137401_38137405del	NC_000008.11:g.38137403_38137405del	NC_000008.11:g.38137404_38137405del	NC_000008.11:g.38137405del	NC_000008.11:g.38137405dup	NC_000008.11:g.38137404_38137405dup	NC_000008.11:g.38137403_38137405dup	NC_000008.11:g.38137401_38137405dup	NC_000008.11:g.38137399_38137405dup	NC_000008.11:g.38137398_38137405dup	NC_000008.11:g.38137397_38137405dup	NC_000008.11:g.38137396_38137405dup	NC_000008.11:g.38137395_38137405dup	NC_000008.11:g.38137394_38137405dup	NC_000008.11:g.38137393_38137405dup	NC_000008.11:g.38137392_38137405dup	NC_000008.11:g.38137391_38137405dup
GRCh37.p13 chr 8	NC_000008.10:g.37994908_37994923=	NC_000008.10:g.37994912_37994923del	NC_000008.10:g.37994913_37994923del	NC_000008.10:g.37994914_37994923del	NC_000008.10:g.37994915_37994923del	NC_000008.10:g.37994916_37994923del	NC_000008.10:g.37994917_37994923del	NC_000008.10:g.37994918_37994923del	NC_000008.10:g.37994919_37994923del	NC_000008.10:g.37994921_37994923del	NC_000008.10:g.37994922_37994923del	NC_000008.10:g.37994923del	NC_000008.10:g.37994923dup	NC_000008.10:g.37994922_37994923dup	NC_000008.10:g.37994921_37994923dup	NC_000008.10:g.37994919_37994923dup	NC_000008.10:g.37994917_37994923dup	NC_000008.10:g.37994916_37994923dup	NC_000008.10:g.37994915_37994923dup	NC_000008.10:g.37994914_37994923dup	NC_000008.10:g.37994913_37994923dup	NC_000008.10:g.37994912_37994923dup	NC_000008.10:g.37994911_37994923dup	NC_000008.10:g.37994910_37994923dup	NC_000008.10:g.37994909_37994923dup
ASH2L transcript variant 2	NM_001105214.2:c.1438-1426=	NM_001105214.2:c.1438-1422_1438-1411del	NM_001105214.2:c.1438-1421_1438-1411del	NM_001105214.2:c.1438-1420_1438-1411del	NM_001105214.2:c.1438-1419_1438-1411del	NM_001105214.2:c.1438-1418_1438-1411del	NM_001105214.2:c.1438-1417_1438-1411del	NM_001105214.2:c.1438-1416_1438-1411del	NM_001105214.2:c.1438-1415_1438-1411del	NM_001105214.2:c.1438-1413_1438-1411del	NM_001105214.2:c.1438-1412_1438-1411del	NM_001105214.2:c.1438-1411del	NM_001105214.2:c.1438-1411dup	NM_001105214.2:c.1438-1412_1438-1411dup	NM_001105214.2:c.1438-1413_1438-1411dup	NM_001105214.2:c.1438-1415_1438-1411dup	NM_001105214.2:c.1438-1417_1438-1411dup	NM_001105214.2:c.1438-1418_1438-1411dup	NM_001105214.2:c.1438-1419_1438-1411dup	NM_001105214.2:c.1438-1420_1438-1411dup	NM_001105214.2:c.1438-1421_1438-1411dup	NM_001105214.2:c.1438-1422_1438-1411dup	NM_001105214.2:c.1438-1423_1438-1411dup	NM_001105214.2:c.1438-1424_1438-1411dup	NM_001105214.2:c.1438-1425_1438-1411dup
ASH2L transcript variant 3	NM_001261832.1:c.1339-1426=	NM_001261832.1:c.1339-1422_1339-1411del	NM_001261832.1:c.1339-1421_1339-1411del	NM_001261832.1:c.1339-1420_1339-1411del	NM_001261832.1:c.1339-1419_1339-1411del	NM_001261832.1:c.1339-1418_1339-1411del	NM_001261832.1:c.1339-1417_1339-1411del	NM_001261832.1:c.1339-1416_1339-1411del	NM_001261832.1:c.1339-1415_1339-1411del	NM_001261832.1:c.1339-1413_1339-1411del	NM_001261832.1:c.1339-1412_1339-1411del	NM_001261832.1:c.1339-1411del	NM_001261832.1:c.1339-1411dup	NM_001261832.1:c.1339-1412_1339-1411dup	NM_001261832.1:c.1339-1413_1339-1411dup	NM_001261832.1:c.1339-1415_1339-1411dup	NM_001261832.1:c.1339-1417_1339-1411dup	NM_001261832.1:c.1339-1418_1339-1411dup	NM_001261832.1:c.1339-1419_1339-1411dup	NM_001261832.1:c.1339-1420_1339-1411dup	NM_001261832.1:c.1339-1421_1339-1411dup	NM_001261832.1:c.1339-1422_1339-1411dup	NM_001261832.1:c.1339-1423_1339-1411dup	NM_001261832.1:c.1339-1424_1339-1411dup	NM_001261832.1:c.1339-1425_1339-1411dup
ASH2L transcript variant 4	NM_001282272.1:c.1303-1426=	NM_001282272.1:c.1303-1422_1303-1411del	NM_001282272.1:c.1303-1421_1303-1411del	NM_001282272.1:c.1303-1420_1303-1411del	NM_001282272.1:c.1303-1419_1303-1411del	NM_001282272.1:c.1303-1418_1303-1411del	NM_001282272.1:c.1303-1417_1303-1411del	NM_001282272.1:c.1303-1416_1303-1411del	NM_001282272.1:c.1303-1415_1303-1411del	NM_001282272.1:c.1303-1413_1303-1411del	NM_001282272.1:c.1303-1412_1303-1411del	NM_001282272.1:c.1303-1411del	NM_001282272.1:c.1303-1411dup	NM_001282272.1:c.1303-1412_1303-1411dup	NM_001282272.1:c.1303-1413_1303-1411dup	NM_001282272.1:c.1303-1415_1303-1411dup	NM_001282272.1:c.1303-1417_1303-1411dup	NM_001282272.1:c.1303-1418_1303-1411dup	NM_001282272.1:c.1303-1419_1303-1411dup	NM_001282272.1:c.1303-1420_1303-1411dup	NM_001282272.1:c.1303-1421_1303-1411dup	NM_001282272.1:c.1303-1422_1303-1411dup	NM_001282272.1:c.1303-1423_1303-1411dup	NM_001282272.1:c.1303-1424_1303-1411dup	NM_001282272.1:c.1303-1425_1303-1411dup
ASH2L transcript variant 1	NM_004674.4:c.1720-1426=	NM_004674.4:c.1720-1422_1720-1411del	NM_004674.4:c.1720-1421_1720-1411del	NM_004674.4:c.1720-1420_1720-1411del	NM_004674.4:c.1720-1419_1720-1411del	NM_004674.4:c.1720-1418_1720-1411del	NM_004674.4:c.1720-1417_1720-1411del	NM_004674.4:c.1720-1416_1720-1411del	NM_004674.4:c.1720-1415_1720-1411del	NM_004674.4:c.1720-1413_1720-1411del	NM_004674.4:c.1720-1412_1720-1411del	NM_004674.4:c.1720-1411del	NM_004674.4:c.1720-1411dup	NM_004674.4:c.1720-1412_1720-1411dup	NM_004674.4:c.1720-1413_1720-1411dup	NM_004674.4:c.1720-1415_1720-1411dup	NM_004674.4:c.1720-1417_1720-1411dup	NM_004674.4:c.1720-1418_1720-1411dup	NM_004674.4:c.1720-1419_1720-1411dup	NM_004674.4:c.1720-1420_1720-1411dup	NM_004674.4:c.1720-1421_1720-1411dup	NM_004674.4:c.1720-1422_1720-1411dup	NM_004674.4:c.1720-1423_1720-1411dup	NM_004674.4:c.1720-1424_1720-1411dup	NM_004674.4:c.1720-1425_1720-1411dup
ASH2L transcript variant 1	NM_004674.5:c.1720-1426=	NM_004674.5:c.1720-1422_1720-1411del	NM_004674.5:c.1720-1421_1720-1411del	NM_004674.5:c.1720-1420_1720-1411del	NM_004674.5:c.1720-1419_1720-1411del	NM_004674.5:c.1720-1418_1720-1411del	NM_004674.5:c.1720-1417_1720-1411del	NM_004674.5:c.1720-1416_1720-1411del	NM_004674.5:c.1720-1415_1720-1411del	NM_004674.5:c.1720-1413_1720-1411del	NM_004674.5:c.1720-1412_1720-1411del	NM_004674.5:c.1720-1411del	NM_004674.5:c.1720-1411dup	NM_004674.5:c.1720-1412_1720-1411dup	NM_004674.5:c.1720-1413_1720-1411dup	NM_004674.5:c.1720-1415_1720-1411dup	NM_004674.5:c.1720-1417_1720-1411dup	NM_004674.5:c.1720-1418_1720-1411dup	NM_004674.5:c.1720-1419_1720-1411dup	NM_004674.5:c.1720-1420_1720-1411dup	NM_004674.5:c.1720-1421_1720-1411dup	NM_004674.5:c.1720-1422_1720-1411dup	NM_004674.5:c.1720-1423_1720-1411dup	NM_004674.5:c.1720-1424_1720-1411dup	NM_004674.5:c.1720-1425_1720-1411dup
ASH2L transcript variant X1	XM_005273682.1:c.1738-1426=	XM_005273682.1:c.1738-1422_1738-1411del	XM_005273682.1:c.1738-1421_1738-1411del	XM_005273682.1:c.1738-1420_1738-1411del	XM_005273682.1:c.1738-1419_1738-1411del	XM_005273682.1:c.1738-1418_1738-1411del	XM_005273682.1:c.1738-1417_1738-1411del	XM_005273682.1:c.1738-1416_1738-1411del	XM_005273682.1:c.1738-1415_1738-1411del	XM_005273682.1:c.1738-1413_1738-1411del	XM_005273682.1:c.1738-1412_1738-1411del	XM_005273682.1:c.1738-1411del	XM_005273682.1:c.1738-1411dup	XM_005273682.1:c.1738-1412_1738-1411dup	XM_005273682.1:c.1738-1413_1738-1411dup	XM_005273682.1:c.1738-1415_1738-1411dup	XM_005273682.1:c.1738-1417_1738-1411dup	XM_005273682.1:c.1738-1418_1738-1411dup	XM_005273682.1:c.1738-1419_1738-1411dup	XM_005273682.1:c.1738-1420_1738-1411dup	XM_005273682.1:c.1738-1421_1738-1411dup	XM_005273682.1:c.1738-1422_1738-1411dup	XM_005273682.1:c.1738-1423_1738-1411dup	XM_005273682.1:c.1738-1424_1738-1411dup	XM_005273682.1:c.1738-1425_1738-1411dup
ASH2L transcript variant X1	XM_005273682.2:c.1738-1426=	XM_005273682.2:c.1738-1422_1738-1411del	XM_005273682.2:c.1738-1421_1738-1411del	XM_005273682.2:c.1738-1420_1738-1411del	XM_005273682.2:c.1738-1419_1738-1411del	XM_005273682.2:c.1738-1418_1738-1411del	XM_005273682.2:c.1738-1417_1738-1411del	XM_005273682.2:c.1738-1416_1738-1411del	XM_005273682.2:c.1738-1415_1738-1411del	XM_005273682.2:c.1738-1413_1738-1411del	XM_005273682.2:c.1738-1412_1738-1411del	XM_005273682.2:c.1738-1411del	XM_005273682.2:c.1738-1411dup	XM_005273682.2:c.1738-1412_1738-1411dup	XM_005273682.2:c.1738-1413_1738-1411dup	XM_005273682.2:c.1738-1415_1738-1411dup	XM_005273682.2:c.1738-1417_1738-1411dup	XM_005273682.2:c.1738-1418_1738-1411dup	XM_005273682.2:c.1738-1419_1738-1411dup	XM_005273682.2:c.1738-1420_1738-1411dup	XM_005273682.2:c.1738-1421_1738-1411dup	XM_005273682.2:c.1738-1422_1738-1411dup	XM_005273682.2:c.1738-1423_1738-1411dup	XM_005273682.2:c.1738-1424_1738-1411dup	XM_005273682.2:c.1738-1425_1738-1411dup
ASH2L transcript variant X4	XM_005273683.1:c.1456-1426=	XM_005273683.1:c.1456-1422_1456-1411del	XM_005273683.1:c.1456-1421_1456-1411del	XM_005273683.1:c.1456-1420_1456-1411del	XM_005273683.1:c.1456-1419_1456-1411del	XM_005273683.1:c.1456-1418_1456-1411del	XM_005273683.1:c.1456-1417_1456-1411del	XM_005273683.1:c.1456-1416_1456-1411del	XM_005273683.1:c.1456-1415_1456-1411del	XM_005273683.1:c.1456-1413_1456-1411del	XM_005273683.1:c.1456-1412_1456-1411del	XM_005273683.1:c.1456-1411del	XM_005273683.1:c.1456-1411dup	XM_005273683.1:c.1456-1412_1456-1411dup	XM_005273683.1:c.1456-1413_1456-1411dup	XM_005273683.1:c.1456-1415_1456-1411dup	XM_005273683.1:c.1456-1417_1456-1411dup	XM_005273683.1:c.1456-1418_1456-1411dup	XM_005273683.1:c.1456-1419_1456-1411dup	XM_005273683.1:c.1456-1420_1456-1411dup	XM_005273683.1:c.1456-1421_1456-1411dup	XM_005273683.1:c.1456-1422_1456-1411dup	XM_005273683.1:c.1456-1423_1456-1411dup	XM_005273683.1:c.1456-1424_1456-1411dup	XM_005273683.1:c.1456-1425_1456-1411dup
ASH2L transcript variant X4	XM_005273683.2:c.1456-1426=	XM_005273683.2:c.1456-1422_1456-1411del	XM_005273683.2:c.1456-1421_1456-1411del	XM_005273683.2:c.1456-1420_1456-1411del	XM_005273683.2:c.1456-1419_1456-1411del	XM_005273683.2:c.1456-1418_1456-1411del	XM_005273683.2:c.1456-1417_1456-1411del	XM_005273683.2:c.1456-1416_1456-1411del	XM_005273683.2:c.1456-1415_1456-1411del	XM_005273683.2:c.1456-1413_1456-1411del	XM_005273683.2:c.1456-1412_1456-1411del	XM_005273683.2:c.1456-1411del	XM_005273683.2:c.1456-1411dup	XM_005273683.2:c.1456-1412_1456-1411dup	XM_005273683.2:c.1456-1413_1456-1411dup	XM_005273683.2:c.1456-1415_1456-1411dup	XM_005273683.2:c.1456-1417_1456-1411dup	XM_005273683.2:c.1456-1418_1456-1411dup	XM_005273683.2:c.1456-1419_1456-1411dup	XM_005273683.2:c.1456-1420_1456-1411dup	XM_005273683.2:c.1456-1421_1456-1411dup	XM_005273683.2:c.1456-1422_1456-1411dup	XM_005273683.2:c.1456-1423_1456-1411dup	XM_005273683.2:c.1456-1424_1456-1411dup	XM_005273683.2:c.1456-1425_1456-1411dup
ASH2L transcript variant X3	XM_005273684.1:c.1303-1426=	XM_005273684.1:c.1303-1422_1303-1411del	XM_005273684.1:c.1303-1421_1303-1411del	XM_005273684.1:c.1303-1420_1303-1411del	XM_005273684.1:c.1303-1419_1303-1411del	XM_005273684.1:c.1303-1418_1303-1411del	XM_005273684.1:c.1303-1417_1303-1411del	XM_005273684.1:c.1303-1416_1303-1411del	XM_005273684.1:c.1303-1415_1303-1411del	XM_005273684.1:c.1303-1413_1303-1411del	XM_005273684.1:c.1303-1412_1303-1411del	XM_005273684.1:c.1303-1411del	XM_005273684.1:c.1303-1411dup	XM_005273684.1:c.1303-1412_1303-1411dup	XM_005273684.1:c.1303-1413_1303-1411dup	XM_005273684.1:c.1303-1415_1303-1411dup	XM_005273684.1:c.1303-1417_1303-1411dup	XM_005273684.1:c.1303-1418_1303-1411dup	XM_005273684.1:c.1303-1419_1303-1411dup	XM_005273684.1:c.1303-1420_1303-1411dup	XM_005273684.1:c.1303-1421_1303-1411dup	XM_005273684.1:c.1303-1422_1303-1411dup	XM_005273684.1:c.1303-1423_1303-1411dup	XM_005273684.1:c.1303-1424_1303-1411dup	XM_005273684.1:c.1303-1425_1303-1411dup
ASH2L transcript variant X2	XM_006716412.2:c.1639-1426=	XM_006716412.2:c.1639-1422_1639-1411del	XM_006716412.2:c.1639-1421_1639-1411del	XM_006716412.2:c.1639-1420_1639-1411del	XM_006716412.2:c.1639-1419_1639-1411del	XM_006716412.2:c.1639-1418_1639-1411del	XM_006716412.2:c.1639-1417_1639-1411del	XM_006716412.2:c.1639-1416_1639-1411del	XM_006716412.2:c.1639-1415_1639-1411del	XM_006716412.2:c.1639-1413_1639-1411del	XM_006716412.2:c.1639-1412_1639-1411del	XM_006716412.2:c.1639-1411del	XM_006716412.2:c.1639-1411dup	XM_006716412.2:c.1639-1412_1639-1411dup	XM_006716412.2:c.1639-1413_1639-1411dup	XM_006716412.2:c.1639-1415_1639-1411dup	XM_006716412.2:c.1639-1417_1639-1411dup	XM_006716412.2:c.1639-1418_1639-1411dup	XM_006716412.2:c.1639-1419_1639-1411dup	XM_006716412.2:c.1639-1420_1639-1411dup	XM_006716412.2:c.1639-1421_1639-1411dup	XM_006716412.2:c.1639-1422_1639-1411dup	XM_006716412.2:c.1639-1423_1639-1411dup	XM_006716412.2:c.1639-1424_1639-1411dup	XM_006716412.2:c.1639-1425_1639-1411dup
ASH2L transcript variant X3	XM_006716413.4:c.1621-1426=	XM_006716413.4:c.1621-1422_1621-1411del	XM_006716413.4:c.1621-1421_1621-1411del	XM_006716413.4:c.1621-1420_1621-1411del	XM_006716413.4:c.1621-1419_1621-1411del	XM_006716413.4:c.1621-1418_1621-1411del	XM_006716413.4:c.1621-1417_1621-1411del	XM_006716413.4:c.1621-1416_1621-1411del	XM_006716413.4:c.1621-1415_1621-1411del	XM_006716413.4:c.1621-1413_1621-1411del	XM_006716413.4:c.1621-1412_1621-1411del	XM_006716413.4:c.1621-1411del	XM_006716413.4:c.1621-1411dup	XM_006716413.4:c.1621-1412_1621-1411dup	XM_006716413.4:c.1621-1413_1621-1411dup	XM_006716413.4:c.1621-1415_1621-1411dup	XM_006716413.4:c.1621-1417_1621-1411dup	XM_006716413.4:c.1621-1418_1621-1411dup	XM_006716413.4:c.1621-1419_1621-1411dup	XM_006716413.4:c.1621-1420_1621-1411dup	XM_006716413.4:c.1621-1421_1621-1411dup	XM_006716413.4:c.1621-1422_1621-1411dup	XM_006716413.4:c.1621-1423_1621-1411dup	XM_006716413.4:c.1621-1424_1621-1411dup	XM_006716413.4:c.1621-1425_1621-1411dup

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#.

60 SubSNP, 34 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	HUMANGENOME_JCVI	ss95489962	Feb 13, 2009 (130)
2	SSMP	ss663852467	Apr 01, 2015 (144)
3	BILGI_BIOE	ss666434891	Apr 25, 2013 (138)
4	DDI	ss1536582559	Apr 01, 2015 (144)
5	SYSTEMSBIOZJU	ss2627009298	Nov 08, 2017 (151)
6	SWEGEN	ss3003015321	Nov 08, 2017 (151)
7	URBANLAB	ss3648895886	Oct 12, 2018 (152)
8	EVA_DECODE	ss3721824643	Jul 13, 2019 (153)
9	EVA_DECODE	ss3721824644	Jul 13, 2019 (153)
10	EVA_DECODE	ss3721824645	Jul 13, 2019 (153)
11	EVA_DECODE	ss3721824646	Jul 13, 2019 (153)
12	EVA_DECODE	ss3721824647	Jul 13, 2019 (153)
13	PACBIO	ss3786120950	Jul 13, 2019 (153)
14	PACBIO	ss3791381612	Jul 13, 2019 (153)
15	PACBIO	ss3796262876	Jul 13, 2019 (153)
16	EVA	ss3831120443	Apr 26, 2020 (154)
17	GNOMAD	ss4182647745	Apr 26, 2021 (155)
18	GNOMAD	ss4182647746	Apr 26, 2021 (155)
19	GNOMAD	ss4182647747	Apr 26, 2021 (155)
20	GNOMAD	ss4182647748	Apr 26, 2021 (155)
21	GNOMAD	ss4182647749	Apr 26, 2021 (155)
22	GNOMAD	ss4182647750	Apr 26, 2021 (155)
23	GNOMAD	ss4182647751	Apr 26, 2021 (155)
24	GNOMAD	ss4182647752	Apr 26, 2021 (155)
25	GNOMAD	ss4182647753	Apr 26, 2021 (155)
26	GNOMAD	ss4182647754	Apr 26, 2021 (155)
27	GNOMAD	ss4182647755	Apr 26, 2021 (155)
28	GNOMAD	ss4182647756	Apr 26, 2021 (155)
29	GNOMAD	ss4182647757	Apr 26, 2021 (155)
30	GNOMAD	ss4182647758	Apr 26, 2021 (155)
31	GNOMAD	ss4182647759	Apr 26, 2021 (155)
32	GNOMAD	ss4182647760	Apr 26, 2021 (155)
33	GNOMAD	ss4182647761	Apr 26, 2021 (155)
34	GNOMAD	ss4182647762	Apr 26, 2021 (155)
35	GNOMAD	ss4182647763	Apr 26, 2021 (155)
36	GNOMAD	ss4182647764	Apr 26, 2021 (155)
37	GNOMAD	ss4182647765	Apr 26, 2021 (155)
38	GNOMAD	ss4182647766	Apr 26, 2021 (155)
39	GNOMAD	ss4182647767	Apr 26, 2021 (155)
40	TOMMO_GENOMICS	ss5188252373	Apr 26, 2021 (155)
41	TOMMO_GENOMICS	ss5188252374	Apr 26, 2021 (155)
42	TOMMO_GENOMICS	ss5188252375	Apr 26, 2021 (155)
43	TOMMO_GENOMICS	ss5188252376	Apr 26, 2021 (155)
44	TOMMO_GENOMICS	ss5188252377	Apr 26, 2021 (155)
45	1000G_HIGH_COVERAGE	ss5276800329	Oct 16, 2022 (156)
46	1000G_HIGH_COVERAGE	ss5276800330	Oct 16, 2022 (156)
47	1000G_HIGH_COVERAGE	ss5276800331	Oct 16, 2022 (156)
48	1000G_HIGH_COVERAGE	ss5276800333	Oct 16, 2022 (156)
49	HUGCELL_USP	ss5473407022	Oct 16, 2022 (156)
50	HUGCELL_USP	ss5473407023	Oct 16, 2022 (156)
51	TOMMO_GENOMICS	ss5730043198	Oct 16, 2022 (156)
52	TOMMO_GENOMICS	ss5730043199	Oct 16, 2022 (156)
53	TOMMO_GENOMICS	ss5730043201	Oct 16, 2022 (156)
54	TOMMO_GENOMICS	ss5730043202	Oct 16, 2022 (156)
55	TOMMO_GENOMICS	ss5730043203	Oct 16, 2022 (156)
56	EVA	ss5830402826	Oct 16, 2022 (156)
57	EVA	ss5830402827	Oct 16, 2022 (156)
58	EVA	ss5830402828	Oct 16, 2022 (156)
59	EVA	ss5830402829	Oct 16, 2022 (156)
60	EVA	ss5888568762	Oct 16, 2022 (156)
61	gnomAD - Genomes Submission ignored due to conflicting rows: Row 293084906 (NC_000008.11:38137389::A 98240/113780) Row 293084907 (NC_000008.11:38137389::AA 2261/113730) Row 293084908 (NC_000008.11:38137389::AAA 33/113788)...	-	Apr 26, 2021 (155)
62	gnomAD - Genomes Submission ignored due to conflicting rows: Row 293084906 (NC_000008.11:38137389::A 98240/113780) Row 293084907 (NC_000008.11:38137389::AA 2261/113730) Row 293084908 (NC_000008.11:38137389::AAA 33/113788)...	-	Apr 26, 2021 (155)
63	gnomAD - Genomes Submission ignored due to conflicting rows: Row 293084906 (NC_000008.11:38137389::A 98240/113780) Row 293084907 (NC_000008.11:38137389::AA 2261/113730) Row 293084908 (NC_000008.11:38137389::AAA 33/113788)...	-	Apr 26, 2021 (155)
64	gnomAD - Genomes Submission ignored due to conflicting rows: Row 293084906 (NC_000008.11:38137389::A 98240/113780) Row 293084907 (NC_000008.11:38137389::AA 2261/113730) Row 293084908 (NC_000008.11:38137389::AAA 33/113788)...	-	Apr 26, 2021 (155)
65	gnomAD - Genomes Submission ignored due to conflicting rows: Row 293084906 (NC_000008.11:38137389::A 98240/113780) Row 293084907 (NC_000008.11:38137389::AA 2261/113730) Row 293084908 (NC_000008.11:38137389::AAA 33/113788)...	-	Apr 26, 2021 (155)
66	gnomAD - Genomes Submission ignored due to conflicting rows: Row 293084906 (NC_000008.11:38137389::A 98240/113780) Row 293084907 (NC_000008.11:38137389::AA 2261/113730) Row 293084908 (NC_000008.11:38137389::AAA 33/113788)...	-	Apr 26, 2021 (155)
67	gnomAD - Genomes Submission ignored due to conflicting rows: Row 293084906 (NC_000008.11:38137389::A 98240/113780) Row 293084907 (NC_000008.11:38137389::AA 2261/113730) Row 293084908 (NC_000008.11:38137389::AAA 33/113788)...	-	Apr 26, 2021 (155)
68	gnomAD - Genomes Submission ignored due to conflicting rows: Row 293084906 (NC_000008.11:38137389::A 98240/113780) Row 293084907 (NC_000008.11:38137389::AA 2261/113730) Row 293084908 (NC_000008.11:38137389::AAA 33/113788)...	-	Apr 26, 2021 (155)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 293084906 (NC_000008.11:38137389::A 98240/113780) Row 293084907 (NC_000008.11:38137389::AA 2261/113730) Row 293084908 (NC_000008.11:38137389::AAA 33/113788)...	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 293084906 (NC_000008.11:38137389::A 98240/113780) Row 293084907 (NC_000008.11:38137389::AA 2261/113730) Row 293084908 (NC_000008.11:38137389::AAA 33/113788)...	-	Apr 26, 2021 (155)
71	gnomAD - Genomes Submission ignored due to conflicting rows: Row 293084906 (NC_000008.11:38137389::A 98240/113780) Row 293084907 (NC_000008.11:38137389::AA 2261/113730) Row 293084908 (NC_000008.11:38137389::AAA 33/113788)...	-	Apr 26, 2021 (155)
72	gnomAD - Genomes Submission ignored due to conflicting rows: Row 293084906 (NC_000008.11:38137389::A 98240/113780) Row 293084907 (NC_000008.11:38137389::AA 2261/113730) Row 293084908 (NC_000008.11:38137389::AAA 33/113788)...	-	Apr 26, 2021 (155)
73	gnomAD - Genomes Submission ignored due to conflicting rows: Row 293084906 (NC_000008.11:38137389::A 98240/113780) Row 293084907 (NC_000008.11:38137389::AA 2261/113730) Row 293084908 (NC_000008.11:38137389::AAA 33/113788)...	-	Apr 26, 2021 (155)
74	gnomAD - Genomes Submission ignored due to conflicting rows: Row 293084906 (NC_000008.11:38137389::A 98240/113780) Row 293084907 (NC_000008.11:38137389::AA 2261/113730) Row 293084908 (NC_000008.11:38137389::AAA 33/113788)...	-	Apr 26, 2021 (155)
75	gnomAD - Genomes Submission ignored due to conflicting rows: Row 293084906 (NC_000008.11:38137389::A 98240/113780) Row 293084907 (NC_000008.11:38137389::AA 2261/113730) Row 293084908 (NC_000008.11:38137389::AAA 33/113788)...	-	Apr 26, 2021 (155)
76	gnomAD - Genomes Submission ignored due to conflicting rows: Row 293084906 (NC_000008.11:38137389::A 98240/113780) Row 293084907 (NC_000008.11:38137389::AA 2261/113730) Row 293084908 (NC_000008.11:38137389::AAA 33/113788)...	-	Apr 26, 2021 (155)
77	gnomAD - Genomes Submission ignored due to conflicting rows: Row 293084906 (NC_000008.11:38137389::A 98240/113780) Row 293084907 (NC_000008.11:38137389::AA 2261/113730) Row 293084908 (NC_000008.11:38137389::AAA 33/113788)...	-	Apr 26, 2021 (155)
78	gnomAD - Genomes Submission ignored due to conflicting rows: Row 293084906 (NC_000008.11:38137389::A 98240/113780) Row 293084907 (NC_000008.11:38137389::AA 2261/113730) Row 293084908 (NC_000008.11:38137389::AAA 33/113788)...	-	Apr 26, 2021 (155)
79	gnomAD - Genomes Submission ignored due to conflicting rows: Row 293084906 (NC_000008.11:38137389::A 98240/113780) Row 293084907 (NC_000008.11:38137389::AA 2261/113730) Row 293084908 (NC_000008.11:38137389::AAA 33/113788)...	-	Apr 26, 2021 (155)
80	gnomAD - Genomes Submission ignored due to conflicting rows: Row 293084906 (NC_000008.11:38137389::A 98240/113780) Row 293084907 (NC_000008.11:38137389::AA 2261/113730) Row 293084908 (NC_000008.11:38137389::AAA 33/113788)...	-	Apr 26, 2021 (155)
81	gnomAD - Genomes Submission ignored due to conflicting rows: Row 293084906 (NC_000008.11:38137389::A 98240/113780) Row 293084907 (NC_000008.11:38137389::AA 2261/113730) Row 293084908 (NC_000008.11:38137389::AAA 33/113788)...	-	Apr 26, 2021 (155)
82	gnomAD - Genomes Submission ignored due to conflicting rows: Row 293084906 (NC_000008.11:38137389::A 98240/113780) Row 293084907 (NC_000008.11:38137389::AA 2261/113730) Row 293084908 (NC_000008.11:38137389::AAA 33/113788)...	-	Apr 26, 2021 (155)
83	gnomAD - Genomes Submission ignored due to conflicting rows: Row 293084906 (NC_000008.11:38137389::A 98240/113780) Row 293084907 (NC_000008.11:38137389::AA 2261/113730) Row 293084908 (NC_000008.11:38137389::AAA 33/113788)...	-	Apr 26, 2021 (155)
84	8.3KJPN Submission ignored due to conflicting rows: Row 46221680 (NC_000008.10:37994907::A 11089/16168) Row 46221681 (NC_000008.10:37994907:A: 3971/16168) Row 46221682 (NC_000008.10:37994907::AAAAAAAAA 10/16168)...	-	Apr 26, 2021 (155)
85	8.3KJPN Submission ignored due to conflicting rows: Row 46221680 (NC_000008.10:37994907::A 11089/16168) Row 46221681 (NC_000008.10:37994907:A: 3971/16168) Row 46221682 (NC_000008.10:37994907::AAAAAAAAA 10/16168)...	-	Apr 26, 2021 (155)
86	8.3KJPN Submission ignored due to conflicting rows: Row 46221680 (NC_000008.10:37994907::A 11089/16168) Row 46221681 (NC_000008.10:37994907:A: 3971/16168) Row 46221682 (NC_000008.10:37994907::AAAAAAAAA 10/16168)...	-	Apr 26, 2021 (155)
87	8.3KJPN Submission ignored due to conflicting rows: Row 46221680 (NC_000008.10:37994907::A 11089/16168) Row 46221681 (NC_000008.10:37994907:A: 3971/16168) Row 46221682 (NC_000008.10:37994907::AAAAAAAAA 10/16168)...	-	Apr 26, 2021 (155)
88	8.3KJPN Submission ignored due to conflicting rows: Row 46221680 (NC_000008.10:37994907::A 11089/16168) Row 46221681 (NC_000008.10:37994907:A: 3971/16168) Row 46221682 (NC_000008.10:37994907::AAAAAAAAA 10/16168)...	-	Apr 26, 2021 (155)
89	14KJPN Submission ignored due to conflicting rows: Row 63880302 (NC_000008.11:38137389:A: 5405/22874) Row 63880303 (NC_000008.11:38137389::A 14746/22874) Row 63880305 (NC_000008.11:38137389::AAAAAAAAA 18/22874)...	-	Oct 16, 2022 (156)
90	14KJPN Submission ignored due to conflicting rows: Row 63880302 (NC_000008.11:38137389:A: 5405/22874) Row 63880303 (NC_000008.11:38137389::A 14746/22874) Row 63880305 (NC_000008.11:38137389::AAAAAAAAA 18/22874)...	-	Oct 16, 2022 (156)
91	14KJPN Submission ignored due to conflicting rows: Row 63880302 (NC_000008.11:38137389:A: 5405/22874) Row 63880303 (NC_000008.11:38137389::A 14746/22874) Row 63880305 (NC_000008.11:38137389::AAAAAAAAA 18/22874)...	-	Oct 16, 2022 (156)
92	14KJPN Submission ignored due to conflicting rows: Row 63880302 (NC_000008.11:38137389:A: 5405/22874) Row 63880303 (NC_000008.11:38137389::A 14746/22874) Row 63880305 (NC_000008.11:38137389::AAAAAAAAA 18/22874)...	-	Oct 16, 2022 (156)
93	14KJPN Submission ignored due to conflicting rows: Row 63880302 (NC_000008.11:38137389:A: 5405/22874) Row 63880303 (NC_000008.11:38137389::A 14746/22874) Row 63880305 (NC_000008.11:38137389::AAAAAAAAA 18/22874)...	-	Oct 16, 2022 (156)
94	ALFA	NC_000008.11 - 38137390	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)
rs377747941	May 15, 2013 (138)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss4182647767	NC_000008.11:38137389:AAAAAAAAAAAA:	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAA	(self)
5523241405	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAA	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAA	(self)
ss4182647766	NC_000008.11:38137389:AAAAAAAAAAA:	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAA	(self)
5523241405	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAA	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAA	(self)
ss4182647765	NC_000008.11:38137389:AAAAAAAAAA:	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAA	(self)
5523241405	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAA	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAA	(self)
ss4182647764	NC_000008.11:38137389:AAAAAAAAA:	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAA	(self)
5523241405	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAA	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAA	(self)
ss4182647763	NC_000008.11:38137389:AAAAAAAA:	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAA	(self)
5523241405	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAA	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAA	(self)
ss3003015321, ss5830402828	NC_000008.10:37994907:AAAAAAA:	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
ss3721824647, ss4182647762, ss5276800333	NC_000008.11:38137389:AAAAAAA:	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
5523241405	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAA	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAA	(self)
ss4182647761	NC_000008.11:38137389:AAAAAA:	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
5523241405	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAA	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAA	(self)
ss4182647760	NC_000008.11:38137389:AAAAA:	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
5523241405	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAA	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAA	(self)
ss4182647759	NC_000008.11:38137389:AAA:	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
5523241405	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA	(self)
ss4182647758	NC_000008.11:38137389:AA:	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
5523241405	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA	(self)
ss5188252374	NC_000008.10:37994907:A:	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss4182647757, ss5276800331, ss5473407022, ss5730043198	NC_000008.11:38137389:A:	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
5523241405	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss3721824646	NC_000008.11:38137395:A:	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA	(self)
ss663852467, ss666434891, ss2627009298, ss3786120950, ss3791381612, ss3796262876, ss3831120443, ss5188252373, ss5830402826	NC_000008.10:37994907::A	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss4182647745, ss5276800329, ss5473407023, ss5730043199, ss5888568762	NC_000008.11:38137389::A	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
5523241405	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss3721824645	NC_000008.11:38137396::A	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA	(self)
ss1536582559, ss5188252376, ss5830402827	NC_000008.10:37994907::AA	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3648895886, ss4182647746, ss5276800330, ss5730043202	NC_000008.11:38137389::AA	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
5523241405	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss3721824644	NC_000008.11:38137396::AA	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss95489962	NT_167187.1:25853069::AA	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA	(self)
ss5830402829	NC_000008.10:37994907::AAA	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
ss4182647747	NC_000008.11:38137389::AAA	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
5523241405	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA	(self)
ss3721824643	NC_000008.11:38137396::AAAAA	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA	(self)
ss4182647748	NC_000008.11:38137389::AAAAAAA	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4182647749	NC_000008.11:38137389::AAAAAAAA	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5188252375	NC_000008.10:37994907::AAAAAAAAA	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4182647750, ss5730043201	NC_000008.11:38137389::AAAAAAAAA	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4182647751	NC_000008.11:38137389::AAAAAAAAAA	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4182647752	NC_000008.11:38137389::AAAAAAAAAAA	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss5188252377	NC_000008.10:37994907::AAAAAAAAAAAA	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4182647753, ss5730043203	NC_000008.11:38137389::AAAAAAAAAAAA	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4182647754	NC_000008.11:38137389::AAAAAAAAAAA… NC_000008.11:38137389::AAAAAAAAAAAAA	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4182647755	NC_000008.11:38137389::AAAAAAAAAAA… NC_000008.11:38137389::AAAAAAAAAAAAAA	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(self)
ss4182647756	NC_000008.11:38137389::AAAAAAAAAAA… NC_000008.11:38137389::AAAAAAAAAAAAAAA	NC_000008.11:38137389:AAAAAAAAAAAA… NC_000008.11:38137389:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA	(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 rs71216651

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

rs71216651