Name: rs6543090
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.

rs6543090

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:101716268 (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: G>A / G>C / G>T
Variation Type: SNV Single Nucleotide Variation
Frequency: G=0.243621 (64484/264690, TOPMED)
G=0.25527 (7213/28256, 14KJPN)
G=0.25555 (4283/16760, 8.3KJPN) (+ 9 more)
G=0.3680 (2766/7516, ALFA)
G=0.2192 (1404/6404, 1000G_30x)
G=0.2187 (1095/5008, 1000G)
G=0.2750 (1232/4480, Estonian)
G=0.2532 (742/2930, KOREAN)
G=0.320 (319/998, GoNL)
G=0.297 (178/600, NorthernSweden)
G=0.187 (99/530, SGDP_PRJ)
G=0.306 (66/216, Qatari)

Clinical Significance: Not Reported in ClinVar
Gene : Consequence: MAP4K4 : 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: 20230706150541

Population	Group	Sample Size	Ref Allele	Alt Allele
Total	Global	7516	G=0.3680	A=0.0000, C=0.6320, T=0.0000
European	Sub	7242	G=0.3583	A=0.0000, C=0.6417, T=0.0000
African	Sub	124	G=0.427	A=0.000, C=0.573, T=0.000
African Others	Sub	6	G=0.0	A=0.0, C=1.0, T=0.0
African American	Sub	118	G=0.449	A=0.000, C=0.551, T=0.000
Asian	Sub	10	G=0.6	A=0.0, C=0.4, T=0.0
East Asian	Sub	8	G=0.8	A=0.0, C=0.2, T=0.0
Other Asian	Sub	2	G=0.0	A=0.0, C=1.0, T=0.0
Latin American 1	Sub	14	G=1.00	A=0.00, C=0.00, T=0.00
Latin American 2	Sub	62	G=1.00	A=0.00, C=0.00, T=0.00
South Asian	Sub	8	G=0.8	A=0.0, C=0.2, T=0.0
Other	Sub	56	G=0.54	A=0.00, C=0.46, T=0.00

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
TopMed	Global	Study-wide	264690	G=0.243621	C=0.756379
14KJPN	JAPANESE	Study-wide	28256	G=0.25527	C=0.74473
8.3KJPN	JAPANESE	Study-wide	16760	G=0.25555	C=0.74445
Allele Frequency Aggregator	Total	Global	7516	G=0.3680	A=0.0000, C=0.6320, T=0.0000
Allele Frequency Aggregator	European	Sub	7242	G=0.3583	A=0.0000, C=0.6417, T=0.0000
Allele Frequency Aggregator	African	Sub	124	G=0.427	A=0.000, C=0.573, T=0.000
Allele Frequency Aggregator	Latin American 2	Sub	62	G=1.00	A=0.00, C=0.00, T=0.00
Allele Frequency Aggregator	Other	Sub	56	G=0.54	A=0.00, C=0.46, T=0.00
Allele Frequency Aggregator	Latin American 1	Sub	14	G=1.00	A=0.00, C=0.00, T=0.00
Allele Frequency Aggregator	Asian	Sub	10	G=0.6	A=0.0, C=0.4, T=0.0
Allele Frequency Aggregator	South Asian	Sub	8	G=0.8	A=0.0, C=0.2, T=0.0
1000Genomes_30x	Global	Study-wide	6404	G=0.2192	C=0.7808
1000Genomes_30x	African	Sub	1786	G=0.0896	C=0.9104
1000Genomes_30x	Europe	Sub	1266	G=0.2852	C=0.7148
1000Genomes_30x	South Asian	Sub	1202	G=0.2745	C=0.7255
1000Genomes_30x	East Asian	Sub	1170	G=0.2239	C=0.7761
1000Genomes_30x	American	Sub	980	G=0.297	C=0.703
1000Genomes	Global	Study-wide	5008	G=0.2187	C=0.7813
1000Genomes	African	Sub	1322	G=0.0900	C=0.9100
1000Genomes	East Asian	Sub	1008	G=0.2133	C=0.7867
1000Genomes	Europe	Sub	1006	G=0.2883	C=0.7117
1000Genomes	South Asian	Sub	978	G=0.273	C=0.727
1000Genomes	American	Sub	694	G=0.294	C=0.706
Genetic variation in the Estonian population	Estonian	Study-wide	4480	G=0.2750	C=0.7250
KOREAN population from KRGDB	KOREAN	Study-wide	2930	G=0.2532	A=0.0000, C=0.7457, T=0.0010
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	G=0.320	C=0.680
Northern Sweden	ACPOP	Study-wide	600	G=0.297	C=0.703
SGDP_PRJ	Global	Study-wide	530	G=0.187	C=0.813
Qatari	Global	Study-wide	216	G=0.306	C=0.694

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 2	NC_000002.12:g.101716268G>A
GRCh38.p14 chr 2	NC_000002.12:g.101716268G>C
GRCh38.p14 chr 2	NC_000002.12:g.101716268G>T
GRCh37.p13 chr 2	NC_000002.11:g.102332730G>A
GRCh37.p13 chr 2	NC_000002.11:g.102332730G>C
GRCh37.p13 chr 2	NC_000002.11:g.102332730G>T

Gene: MAP4K4, mitogen-activated protein kinase kinase kinase kinase 4 (plus strand)

Molecule type	Change	Amino acid[Codon]	SO Term
MAP4K4 transcript variant 4	NM_001242559.2:c.123+1773… NM_001242559.2:c.123+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 5	NM_001242560.2:c.123+1773… NM_001242560.2:c.123+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 6	NM_001384476.1:c.123+1773… NM_001384476.1:c.123+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 7	NM_001384477.1:c.123+1773… NM_001384477.1:c.123+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 8	NM_001384478.1:c.123+1773… NM_001384478.1:c.123+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 9	NM_001384481.1:c.123+1773… NM_001384481.1:c.123+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 10	NM_001384482.1:c.123+1773… NM_001384482.1:c.123+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 11	NM_001384483.1:c.123+1773… NM_001384483.1:c.123+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 12	NM_001384484.1:c.123+1773… NM_001384484.1:c.123+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 13	NM_001384485.1:c.123+1773… NM_001384485.1:c.123+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 14	NM_001384486.1:c.123+1773… NM_001384486.1:c.123+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 15	NM_001384487.1:c.123+1773… NM_001384487.1:c.123+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 16	NM_001384488.1:c.123+1773… NM_001384488.1:c.123+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 18	NM_001384490.1:c.123+1773… NM_001384490.1:c.123+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 19	NM_001384491.1:c.123+1773… NM_001384491.1:c.123+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 20	NM_001384492.1:c.123+1773… NM_001384492.1:c.123+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 21	NM_001384493.1:c.123+1773… NM_001384493.1:c.123+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 22	NM_001384494.1:c.123+1773… NM_001384494.1:c.123+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 23	NM_001384495.1:c.123+1773… NM_001384495.1:c.123+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 24	NM_001384496.1:c.123+1773… NM_001384496.1:c.123+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 25	NM_001384497.1:c.123+1773… NM_001384497.1:c.123+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 27	NM_001384506.1:c.123+1773… NM_001384506.1:c.123+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 28	NM_001384507.1:c.123+1773… NM_001384507.1:c.123+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 29	NM_001384508.1:c.123+1773… NM_001384508.1:c.123+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 30	NM_001384509.1:c.123+1773… NM_001384509.1:c.123+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 31	NM_001384520.1:c.123+1773… NM_001384520.1:c.123+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 32	NM_001384543.1:c.123+1773… NM_001384543.1:c.123+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 35	NM_001384548.1:c.123+1773… NM_001384548.1:c.123+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 36	NM_001384549.1:c.96+17730… NM_001384549.1:c.96+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 37	NM_001384550.1:c.96+17730… NM_001384550.1:c.96+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 38	NM_001384551.1:c.96+17730… NM_001384551.1:c.96+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 39	NM_001384552.1:c.96+17730… NM_001384552.1:c.96+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 40	NM_001384553.1:c.96+17730… NM_001384553.1:c.96+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 41	NM_001384554.1:c.96+17730… NM_001384554.1:c.96+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 42	NM_001384555.1:c.96+17730… NM_001384555.1:c.96+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 43	NM_001384556.1:c.96+17730… NM_001384556.1:c.96+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 44	NM_001384557.1:c.96+17730… NM_001384557.1:c.96+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 45	NM_001384558.1:c.96+17730… NM_001384558.1:c.96+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 46	NM_001384559.1:c.96+17730… NM_001384559.1:c.96+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 47	NM_001384560.1:c.96+17730… NM_001384560.1:c.96+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 48	NM_001384561.1:c.96+17730… NM_001384561.1:c.96+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 49	NM_001384562.1:c.96+17730… NM_001384562.1:c.96+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 50	NM_001384563.1:c.96+17730… NM_001384563.1:c.96+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 51	NM_001384564.1:c.96+17730… NM_001384564.1:c.96+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 52	NM_001384567.1:c.96+17730… NM_001384567.1:c.96+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 53	NM_001384572.1:c.96+17730… NM_001384572.1:c.96+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 54	NM_001384579.1:c.96+17730… NM_001384579.1:c.96+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 55	NM_001395002.1:c.123+1773… NM_001395002.1:c.123+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 1	NM_004834.5:c.123+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 2	NM_145686.4:c.123+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 3	NM_145687.4:c.123+17730G>A	N/A	Intron Variant
MAP4K4 transcript variant 17	NR_169279.1:n.	N/A	Intron Variant
MAP4K4 transcript variant 33	NR_169280.1:n.	N/A	Intron Variant
MAP4K4 transcript variant 34	NR_169281.1:n.	N/A	Intron Variant
MAP4K4 transcript variant 26	NR_169282.1:n.	N/A	Intron Variant

Clinical Significance tab shows a list of clinical significance entries from ClinVar associated with the variation, per allele. Click on the RCV accession (i.e. RCV000001615.2) or Allele ID (i.e. 12274) to access full ClinVar report.

Not Reported in ClinVar

Aliases tab displays HGVS names representing the variant placements and allele changes on genomic, transcript and protein sequences, per allele. HGVS name is an expression for reporting sequence accession and version, sequence type, position, and allele change. The column "Note" can have two values: "diff" means that there is a difference between the reference allele (variation interval) at the placement reported in HGVS name and the reference alleles reported in other HGVS names, and "rev" means that the sequence of this variation interval at the placement reported in HGVS name is in reverse orientation to the sequence(s) of this variation in other HGVS names not labeled as "rev".

Placement	G=	A	C	T
GRCh38.p14 chr 2	NC_000002.12:g.101716268=	NC_000002.12:g.101716268G>A	NC_000002.12:g.101716268G>C	NC_000002.12:g.101716268G>T
GRCh37.p13 chr 2	NC_000002.11:g.102332730=	NC_000002.11:g.102332730G>A	NC_000002.11:g.102332730G>C	NC_000002.11:g.102332730G>T
MAP4K4 transcript variant 4	NM_001242559.1:c.123+17730=	NM_001242559.1:c.123+17730G>A	NM_001242559.1:c.123+17730G>C	NM_001242559.1:c.123+17730G>T
MAP4K4 transcript variant 4	NM_001242559.2:c.123+17730=	NM_001242559.2:c.123+17730G>A	NM_001242559.2:c.123+17730G>C	NM_001242559.2:c.123+17730G>T
MAP4K4 transcript variant 5	NM_001242560.1:c.123+17730=	NM_001242560.1:c.123+17730G>A	NM_001242560.1:c.123+17730G>C	NM_001242560.1:c.123+17730G>T
MAP4K4 transcript variant 5	NM_001242560.2:c.123+17730=	NM_001242560.2:c.123+17730G>A	NM_001242560.2:c.123+17730G>C	NM_001242560.2:c.123+17730G>T
MAP4K4 transcript variant 6	NM_001384476.1:c.123+17730=	NM_001384476.1:c.123+17730G>A	NM_001384476.1:c.123+17730G>C	NM_001384476.1:c.123+17730G>T
MAP4K4 transcript variant 7	NM_001384477.1:c.123+17730=	NM_001384477.1:c.123+17730G>A	NM_001384477.1:c.123+17730G>C	NM_001384477.1:c.123+17730G>T
MAP4K4 transcript variant 8	NM_001384478.1:c.123+17730=	NM_001384478.1:c.123+17730G>A	NM_001384478.1:c.123+17730G>C	NM_001384478.1:c.123+17730G>T
MAP4K4 transcript variant 9	NM_001384481.1:c.123+17730=	NM_001384481.1:c.123+17730G>A	NM_001384481.1:c.123+17730G>C	NM_001384481.1:c.123+17730G>T
MAP4K4 transcript variant 10	NM_001384482.1:c.123+17730=	NM_001384482.1:c.123+17730G>A	NM_001384482.1:c.123+17730G>C	NM_001384482.1:c.123+17730G>T
MAP4K4 transcript variant 11	NM_001384483.1:c.123+17730=	NM_001384483.1:c.123+17730G>A	NM_001384483.1:c.123+17730G>C	NM_001384483.1:c.123+17730G>T
MAP4K4 transcript variant 12	NM_001384484.1:c.123+17730=	NM_001384484.1:c.123+17730G>A	NM_001384484.1:c.123+17730G>C	NM_001384484.1:c.123+17730G>T
MAP4K4 transcript variant 13	NM_001384485.1:c.123+17730=	NM_001384485.1:c.123+17730G>A	NM_001384485.1:c.123+17730G>C	NM_001384485.1:c.123+17730G>T
MAP4K4 transcript variant 14	NM_001384486.1:c.123+17730=	NM_001384486.1:c.123+17730G>A	NM_001384486.1:c.123+17730G>C	NM_001384486.1:c.123+17730G>T
MAP4K4 transcript variant 15	NM_001384487.1:c.123+17730=	NM_001384487.1:c.123+17730G>A	NM_001384487.1:c.123+17730G>C	NM_001384487.1:c.123+17730G>T
MAP4K4 transcript variant 16	NM_001384488.1:c.123+17730=	NM_001384488.1:c.123+17730G>A	NM_001384488.1:c.123+17730G>C	NM_001384488.1:c.123+17730G>T
MAP4K4 transcript variant 18	NM_001384490.1:c.123+17730=	NM_001384490.1:c.123+17730G>A	NM_001384490.1:c.123+17730G>C	NM_001384490.1:c.123+17730G>T
MAP4K4 transcript variant 19	NM_001384491.1:c.123+17730=	NM_001384491.1:c.123+17730G>A	NM_001384491.1:c.123+17730G>C	NM_001384491.1:c.123+17730G>T
MAP4K4 transcript variant 20	NM_001384492.1:c.123+17730=	NM_001384492.1:c.123+17730G>A	NM_001384492.1:c.123+17730G>C	NM_001384492.1:c.123+17730G>T
MAP4K4 transcript variant 21	NM_001384493.1:c.123+17730=	NM_001384493.1:c.123+17730G>A	NM_001384493.1:c.123+17730G>C	NM_001384493.1:c.123+17730G>T
MAP4K4 transcript variant 22	NM_001384494.1:c.123+17730=	NM_001384494.1:c.123+17730G>A	NM_001384494.1:c.123+17730G>C	NM_001384494.1:c.123+17730G>T
MAP4K4 transcript variant 23	NM_001384495.1:c.123+17730=	NM_001384495.1:c.123+17730G>A	NM_001384495.1:c.123+17730G>C	NM_001384495.1:c.123+17730G>T
MAP4K4 transcript variant 24	NM_001384496.1:c.123+17730=	NM_001384496.1:c.123+17730G>A	NM_001384496.1:c.123+17730G>C	NM_001384496.1:c.123+17730G>T
MAP4K4 transcript variant 25	NM_001384497.1:c.123+17730=	NM_001384497.1:c.123+17730G>A	NM_001384497.1:c.123+17730G>C	NM_001384497.1:c.123+17730G>T
MAP4K4 transcript variant 27	NM_001384506.1:c.123+17730=	NM_001384506.1:c.123+17730G>A	NM_001384506.1:c.123+17730G>C	NM_001384506.1:c.123+17730G>T
MAP4K4 transcript variant 28	NM_001384507.1:c.123+17730=	NM_001384507.1:c.123+17730G>A	NM_001384507.1:c.123+17730G>C	NM_001384507.1:c.123+17730G>T
MAP4K4 transcript variant 29	NM_001384508.1:c.123+17730=	NM_001384508.1:c.123+17730G>A	NM_001384508.1:c.123+17730G>C	NM_001384508.1:c.123+17730G>T
MAP4K4 transcript variant 30	NM_001384509.1:c.123+17730=	NM_001384509.1:c.123+17730G>A	NM_001384509.1:c.123+17730G>C	NM_001384509.1:c.123+17730G>T
MAP4K4 transcript variant 31	NM_001384520.1:c.123+17730=	NM_001384520.1:c.123+17730G>A	NM_001384520.1:c.123+17730G>C	NM_001384520.1:c.123+17730G>T
MAP4K4 transcript variant 32	NM_001384543.1:c.123+17730=	NM_001384543.1:c.123+17730G>A	NM_001384543.1:c.123+17730G>C	NM_001384543.1:c.123+17730G>T
MAP4K4 transcript variant 35	NM_001384548.1:c.123+17730=	NM_001384548.1:c.123+17730G>A	NM_001384548.1:c.123+17730G>C	NM_001384548.1:c.123+17730G>T
MAP4K4 transcript variant 36	NM_001384549.1:c.96+17730=	NM_001384549.1:c.96+17730G>A	NM_001384549.1:c.96+17730G>C	NM_001384549.1:c.96+17730G>T
MAP4K4 transcript variant 37	NM_001384550.1:c.96+17730=	NM_001384550.1:c.96+17730G>A	NM_001384550.1:c.96+17730G>C	NM_001384550.1:c.96+17730G>T
MAP4K4 transcript variant 38	NM_001384551.1:c.96+17730=	NM_001384551.1:c.96+17730G>A	NM_001384551.1:c.96+17730G>C	NM_001384551.1:c.96+17730G>T
MAP4K4 transcript variant 39	NM_001384552.1:c.96+17730=	NM_001384552.1:c.96+17730G>A	NM_001384552.1:c.96+17730G>C	NM_001384552.1:c.96+17730G>T
MAP4K4 transcript variant 40	NM_001384553.1:c.96+17730=	NM_001384553.1:c.96+17730G>A	NM_001384553.1:c.96+17730G>C	NM_001384553.1:c.96+17730G>T
MAP4K4 transcript variant 41	NM_001384554.1:c.96+17730=	NM_001384554.1:c.96+17730G>A	NM_001384554.1:c.96+17730G>C	NM_001384554.1:c.96+17730G>T
MAP4K4 transcript variant 42	NM_001384555.1:c.96+17730=	NM_001384555.1:c.96+17730G>A	NM_001384555.1:c.96+17730G>C	NM_001384555.1:c.96+17730G>T
MAP4K4 transcript variant 43	NM_001384556.1:c.96+17730=	NM_001384556.1:c.96+17730G>A	NM_001384556.1:c.96+17730G>C	NM_001384556.1:c.96+17730G>T
MAP4K4 transcript variant 44	NM_001384557.1:c.96+17730=	NM_001384557.1:c.96+17730G>A	NM_001384557.1:c.96+17730G>C	NM_001384557.1:c.96+17730G>T
MAP4K4 transcript variant 45	NM_001384558.1:c.96+17730=	NM_001384558.1:c.96+17730G>A	NM_001384558.1:c.96+17730G>C	NM_001384558.1:c.96+17730G>T
MAP4K4 transcript variant 46	NM_001384559.1:c.96+17730=	NM_001384559.1:c.96+17730G>A	NM_001384559.1:c.96+17730G>C	NM_001384559.1:c.96+17730G>T
MAP4K4 transcript variant 47	NM_001384560.1:c.96+17730=	NM_001384560.1:c.96+17730G>A	NM_001384560.1:c.96+17730G>C	NM_001384560.1:c.96+17730G>T
MAP4K4 transcript variant 48	NM_001384561.1:c.96+17730=	NM_001384561.1:c.96+17730G>A	NM_001384561.1:c.96+17730G>C	NM_001384561.1:c.96+17730G>T
MAP4K4 transcript variant 49	NM_001384562.1:c.96+17730=	NM_001384562.1:c.96+17730G>A	NM_001384562.1:c.96+17730G>C	NM_001384562.1:c.96+17730G>T
MAP4K4 transcript variant 50	NM_001384563.1:c.96+17730=	NM_001384563.1:c.96+17730G>A	NM_001384563.1:c.96+17730G>C	NM_001384563.1:c.96+17730G>T
MAP4K4 transcript variant 51	NM_001384564.1:c.96+17730=	NM_001384564.1:c.96+17730G>A	NM_001384564.1:c.96+17730G>C	NM_001384564.1:c.96+17730G>T
MAP4K4 transcript variant 52	NM_001384567.1:c.96+17730=	NM_001384567.1:c.96+17730G>A	NM_001384567.1:c.96+17730G>C	NM_001384567.1:c.96+17730G>T
MAP4K4 transcript variant 53	NM_001384572.1:c.96+17730=	NM_001384572.1:c.96+17730G>A	NM_001384572.1:c.96+17730G>C	NM_001384572.1:c.96+17730G>T
MAP4K4 transcript variant 54	NM_001384579.1:c.96+17730=	NM_001384579.1:c.96+17730G>A	NM_001384579.1:c.96+17730G>C	NM_001384579.1:c.96+17730G>T
MAP4K4 transcript variant 55	NM_001395002.1:c.123+17730=	NM_001395002.1:c.123+17730G>A	NM_001395002.1:c.123+17730G>C	NM_001395002.1:c.123+17730G>T
MAP4K4 transcript variant 1	NM_004834.4:c.123+17730=	NM_004834.4:c.123+17730G>A	NM_004834.4:c.123+17730G>C	NM_004834.4:c.123+17730G>T
MAP4K4 transcript variant 1	NM_004834.5:c.123+17730=	NM_004834.5:c.123+17730G>A	NM_004834.5:c.123+17730G>C	NM_004834.5:c.123+17730G>T
MAP4K4 transcript variant 2	NM_145686.3:c.123+17730=	NM_145686.3:c.123+17730G>A	NM_145686.3:c.123+17730G>C	NM_145686.3:c.123+17730G>T
MAP4K4 transcript variant 2	NM_145686.4:c.123+17730=	NM_145686.4:c.123+17730G>A	NM_145686.4:c.123+17730G>C	NM_145686.4:c.123+17730G>T
MAP4K4 transcript variant 3	NM_145687.3:c.123+17730=	NM_145687.3:c.123+17730G>A	NM_145687.3:c.123+17730G>C	NM_145687.3:c.123+17730G>T
MAP4K4 transcript variant 3	NM_145687.4:c.123+17730=	NM_145687.4:c.123+17730G>A	NM_145687.4:c.123+17730G>C	NM_145687.4:c.123+17730G>T
MAP4K4 transcript variant X1	XM_005264044.1:c.123+17730=	XM_005264044.1:c.123+17730G>A	XM_005264044.1:c.123+17730G>C	XM_005264044.1:c.123+17730G>T
MAP4K4 transcript variant X2	XM_005264045.1:c.123+17730=	XM_005264045.1:c.123+17730G>A	XM_005264045.1:c.123+17730G>C	XM_005264045.1:c.123+17730G>T
MAP4K4 transcript variant X3	XM_005264046.1:c.123+17730=	XM_005264046.1:c.123+17730G>A	XM_005264046.1:c.123+17730G>C	XM_005264046.1:c.123+17730G>T
MAP4K4 transcript variant X4	XM_005264047.1:c.123+17730=	XM_005264047.1:c.123+17730G>A	XM_005264047.1:c.123+17730G>C	XM_005264047.1:c.123+17730G>T
MAP4K4 transcript variant X5	XM_005264048.1:c.123+17730=	XM_005264048.1:c.123+17730G>A	XM_005264048.1:c.123+17730G>C	XM_005264048.1:c.123+17730G>T
MAP4K4 transcript variant X6	XM_005264049.1:c.123+17730=	XM_005264049.1:c.123+17730G>A	XM_005264049.1:c.123+17730G>C	XM_005264049.1:c.123+17730G>T
MAP4K4 transcript variant X7	XM_005264050.1:c.123+17730=	XM_005264050.1:c.123+17730G>A	XM_005264050.1:c.123+17730G>C	XM_005264050.1:c.123+17730G>T
MAP4K4 transcript variant X8	XM_005264051.1:c.123+17730=	XM_005264051.1:c.123+17730G>A	XM_005264051.1:c.123+17730G>C	XM_005264051.1:c.123+17730G>T
MAP4K4 transcript variant X9	XM_005264052.1:c.123+17730=	XM_005264052.1:c.123+17730G>A	XM_005264052.1:c.123+17730G>C	XM_005264052.1:c.123+17730G>T
MAP4K4 transcript variant X10	XM_005264053.1:c.123+17730=	XM_005264053.1:c.123+17730G>A	XM_005264053.1:c.123+17730G>C	XM_005264053.1:c.123+17730G>T
MAP4K4 transcript variant X11	XM_005264054.1:c.123+17730=	XM_005264054.1:c.123+17730G>A	XM_005264054.1:c.123+17730G>C	XM_005264054.1:c.123+17730G>T
MAP4K4 transcript variant X12	XM_005264055.1:c.123+17730=	XM_005264055.1:c.123+17730G>A	XM_005264055.1:c.123+17730G>C	XM_005264055.1:c.123+17730G>T
MAP4K4 transcript variant X13	XM_005264056.1:c.123+17730=	XM_005264056.1:c.123+17730G>A	XM_005264056.1:c.123+17730G>C	XM_005264056.1:c.123+17730G>T
MAP4K4 transcript variant X14	XM_005264057.1:c.123+17730=	XM_005264057.1:c.123+17730G>A	XM_005264057.1:c.123+17730G>C	XM_005264057.1:c.123+17730G>T
MAP4K4 transcript variant X15	XM_005264058.1:c.123+17730=	XM_005264058.1:c.123+17730G>A	XM_005264058.1:c.123+17730G>C	XM_005264058.1:c.123+17730G>T
MAP4K4 transcript variant X16	XM_005264059.1:c.123+17730=	XM_005264059.1:c.123+17730G>A	XM_005264059.1:c.123+17730G>C	XM_005264059.1:c.123+17730G>T
MAP4K4 transcript variant X17	XM_005264060.1:c.123+17730=	XM_005264060.1:c.123+17730G>A	XM_005264060.1:c.123+17730G>C	XM_005264060.1:c.123+17730G>T
MAP4K4 transcript variant X19	XM_005264062.1:c.123+17730=	XM_005264062.1:c.123+17730G>A	XM_005264062.1:c.123+17730G>C	XM_005264062.1:c.123+17730G>T
MAP4K4 transcript variant X20	XM_005264063.1:c.123+17730=	XM_005264063.1:c.123+17730G>A	XM_005264063.1:c.123+17730G>C	XM_005264063.1:c.123+17730G>T
MAP4K4 transcript variant X21	XM_005264064.1:c.123+17730=	XM_005264064.1:c.123+17730G>A	XM_005264064.1:c.123+17730G>C	XM_005264064.1:c.123+17730G>T
MAP4K4 transcript variant X22	XM_005264065.1:c.123+17730=	XM_005264065.1:c.123+17730G>A	XM_005264065.1:c.123+17730G>C	XM_005264065.1:c.123+17730G>T
MAP4K4 transcript variant X23	XM_005264066.1:c.123+17730=	XM_005264066.1:c.123+17730G>A	XM_005264066.1:c.123+17730G>C	XM_005264066.1:c.123+17730G>T
MAP4K4 transcript variant X24	XM_005264067.1:c.123+17730=	XM_005264067.1:c.123+17730G>A	XM_005264067.1:c.123+17730G>C	XM_005264067.1:c.123+17730G>T
MAP4K4 transcript variant X25	XM_005264068.1:c.123+17730=	XM_005264068.1:c.123+17730G>A	XM_005264068.1:c.123+17730G>C	XM_005264068.1:c.123+17730G>T
MAP4K4 transcript variant X26	XM_005264069.1:c.123+17730=	XM_005264069.1:c.123+17730G>A	XM_005264069.1:c.123+17730G>C	XM_005264069.1:c.123+17730G>T
MAP4K4 transcript variant X27	XM_005264070.1:c.123+17730=	XM_005264070.1:c.123+17730G>A	XM_005264070.1:c.123+17730G>C	XM_005264070.1:c.123+17730G>T
MAP4K4 transcript variant X28	XM_005264071.1:c.123+17730=	XM_005264071.1:c.123+17730G>A	XM_005264071.1:c.123+17730G>C	XM_005264071.1:c.123+17730G>T
MAP4K4 transcript variant X29	XM_005264072.1:c.123+17730=	XM_005264072.1:c.123+17730G>A	XM_005264072.1:c.123+17730G>C	XM_005264072.1:c.123+17730G>T

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#.

65 SubSNP, 14 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	BCM_SSAHASNP	ss9909982	Jul 11, 2003 (116)
2	WI_SSAHASNP	ss11435170	Jul 11, 2003 (116)
3	WUGSC_SSAHASNP	ss14468493	Dec 05, 2003 (119)
4	SC_SNP	ss14742504	Dec 05, 2003 (119)
5	SSAHASNP	ss21570364	Apr 05, 2004 (121)
6	ABI	ss41720644	Mar 14, 2006 (126)
7	HGSV	ss77724598	Dec 07, 2007 (129)
8	HGSV	ss78644121	Dec 07, 2007 (129)
9	HGSV	ss80495425	Dec 16, 2007 (130)
10	BCMHGSC_JDW	ss91274904	Mar 24, 2008 (129)
11	HUMANGENOME_JCVI	ss97061236	Feb 06, 2009 (130)
12	BGI	ss106106315	Feb 06, 2009 (130)
13	ENSEMBL	ss136215647	Dec 01, 2009 (131)
14	ENSEMBL	ss138496858	Dec 01, 2009 (131)
15	GMI	ss157427083	Dec 01, 2009 (131)
16	COMPLETE_GENOMICS	ss163826162	Jul 04, 2010 (132)
17	COMPLETE_GENOMICS	ss164877942	Jul 04, 2010 (132)
18	COMPLETE_GENOMICS	ss166934838	Jul 04, 2010 (132)
19	BUSHMAN	ss200807102	Jul 04, 2010 (132)
20	BCM-HGSC-SUB	ss205970551	Jul 04, 2010 (132)
21	GMI	ss276597728	May 04, 2012 (137)
22	GMI	ss284400049	Apr 25, 2013 (138)
23	PJP	ss292330551	May 09, 2011 (134)
24	1000GENOMES	ss329832438	May 09, 2011 (134)
25	TISHKOFF	ss555751813	Apr 25, 2013 (138)
26	SSMP	ss649366217	Apr 25, 2013 (138)
27	EVA-GONL	ss977148971	Aug 21, 2014 (142)
28	1000GENOMES	ss1298503428	Aug 21, 2014 (142)
29	DDI	ss1428672508	Apr 01, 2015 (144)
30	HAMMER_LAB	ss1797186879	Sep 08, 2015 (146)
31	WEILL_CORNELL_DGM	ss1920394296	Feb 12, 2016 (147)
32	GENOMED	ss1968839721	Jul 19, 2016 (147)
33	HUMAN_LONGEVITY	ss2232730599	Dec 20, 2016 (150)
34	SYSTEMSBIOZJU	ss2624869918	Nov 08, 2017 (151)
35	GRF	ss2703385719	Nov 08, 2017 (151)
36	GNOMAD	ss2777261141	Nov 08, 2017 (151)
37	SWEGEN	ss2990071626	Nov 08, 2017 (151)
38	BIOINF_KMB_FNS_UNIBA	ss3024126079	Nov 08, 2017 (151)
39	CSHL	ss3344377886	Nov 08, 2017 (151)
40	URBANLAB	ss3647098754	Oct 11, 2018 (152)
41	EGCUT_WGS	ss3657961566	Jul 13, 2019 (153)
42	ACPOP	ss3728691783	Jul 13, 2019 (153)
43	EVA	ss3757132954	Jul 13, 2019 (153)
44	PACBIO	ss3783940694	Jul 13, 2019 (153)
45	PACBIO	ss3789512633	Jul 13, 2019 (153)
46	PACBIO	ss3794385417	Jul 13, 2019 (153)
47	KHV_HUMAN_GENOMES	ss3801500810	Jul 13, 2019 (153)
48	EVA	ss3827123765	Apr 25, 2020 (154)
49	EVA	ss3836972673	Apr 25, 2020 (154)
50	EVA	ss3842391160	Apr 25, 2020 (154)
51	SGDP_PRJ	ss3852958538	Apr 25, 2020 (154)
52	KRGDB	ss3898490774	Apr 25, 2020 (154)
53	TOPMED	ss4516847310	Apr 26, 2021 (155)
54	TOMMO_GENOMICS	ss5152899860	Apr 26, 2021 (155)
55	1000G_HIGH_COVERAGE	ss5249275025	Oct 17, 2022 (156)
56	EVA	ss5330987024	Oct 17, 2022 (156)
57	HUGCELL_USP	ss5449214613	Oct 17, 2022 (156)
58	EVA	ss5506512043	Oct 17, 2022 (156)
59	1000G_HIGH_COVERAGE	ss5525159513	Oct 17, 2022 (156)
60	SANFORD_IMAGENETICS	ss5629380509	Oct 17, 2022 (156)
61	TOMMO_GENOMICS	ss5682742817	Oct 17, 2022 (156)
62	YY_MCH	ss5802541739	Oct 17, 2022 (156)
63	EVA	ss5820520052	Oct 17, 2022 (156)
64	EVA	ss5955594859	Oct 17, 2022 (156)
65	EVA	ss5980072070	Oct 17, 2022 (156)
66	1000Genomes	NC_000002.11 - 102332730	Oct 11, 2018 (152)
67	1000Genomes_30x	NC_000002.12 - 101716268	Oct 17, 2022 (156)
68	Genetic variation in the Estonian population	NC_000002.11 - 102332730	Oct 11, 2018 (152)
69	gnomAD - Genomes Submission ignored due to conflicting rows: Row 67776313 (NC_000002.12:101716267:G:A 2/139978) Row 67776314 (NC_000002.12:101716267:G:C 106011/139944)	-	Apr 26, 2021 (155)
70	gnomAD - Genomes Submission ignored due to conflicting rows: Row 67776313 (NC_000002.12:101716267:G:A 2/139978) Row 67776314 (NC_000002.12:101716267:G:C 106011/139944)	-	Apr 26, 2021 (155)
71	Genome of the Netherlands Release 5	NC_000002.11 - 102332730	Apr 25, 2020 (154)
72	KOREAN population from KRGDB	NC_000002.11 - 102332730	Apr 25, 2020 (154)
73	Northern Sweden	NC_000002.11 - 102332730	Jul 13, 2019 (153)
74	Qatari	NC_000002.11 - 102332730	Apr 25, 2020 (154)
75	SGDP_PRJ	NC_000002.11 - 102332730	Apr 25, 2020 (154)
76	8.3KJPN	NC_000002.11 - 102332730	Apr 26, 2021 (155)
77	14KJPN	NC_000002.12 - 101716268	Oct 17, 2022 (156)
78	TopMed	NC_000002.12 - 101716268	Apr 26, 2021 (155)
79	ALFA	NC_000002.12 - 101716268	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)
rs61194845	May 26, 2008 (130)

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
5668168, ss3898490774	NC_000002.11:102332729:G:A	NC_000002.12:101716267:G:A	(self)
3739204798	NC_000002.12:101716267:G:A	NC_000002.12:101716267:G:A	(self)
ss77724598, ss78644121, ss80495425	NC_000002.9:101791247:G:C	NC_000002.12:101716267:G:C	(self)
ss91274904, ss163826162, ss164877942, ss166934838, ss200807102, ss205970551, ss276597728, ss284400049, ss292330551	NC_000002.10:101699161:G:C	NC_000002.12:101716267:G:C	(self)
9491179, 3699814, 2302632, 5668168, 1976648, 2436226, 4975518, 10869167, ss329832438, ss555751813, ss649366217, ss977148971, ss1298503428, ss1428672508, ss1797186879, ss1920394296, ss1968839721, ss2624869918, ss2703385719, ss2777261141, ss2990071626, ss3344377886, ss3657961566, ss3728691783, ss3757132954, ss3783940694, ss3789512633, ss3794385417, ss3827123765, ss3836972673, ss3852958538, ss3898490774, ss5152899860, ss5330987024, ss5506512043, ss5629380509, ss5820520052, ss5955594859, ss5980072070	NC_000002.11:102332729:G:C	NC_000002.12:101716267:G:C	(self)
12685448, 16579921, 320670189, 3739204798, ss2232730599, ss3024126079, ss3647098754, ss3801500810, ss3842391160, ss4516847310, ss5249275025, ss5449214613, ss5525159513, ss5682742817, ss5802541739	NC_000002.12:101716267:G:C	NC_000002.12:101716267:G:C	(self)
ss9909982, ss11435170, ss14468493, ss14742504, ss21570364	NT_022171.13:4398753:G:C	NC_000002.12:101716267:G:C	(self)
ss41720644, ss97061236, ss106106315, ss136215647, ss138496858, ss157427083	NT_022171.15:7006558:G:C	NC_000002.12:101716267:G:C	(self)
5668168, ss3898490774	NC_000002.11:102332729:G:T	NC_000002.12:101716267:G:T	(self)
3739204798	NC_000002.12:101716267:G:T	NC_000002.12:101716267:G:T	(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 rs6543090

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
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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.
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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs6543090