Name: rs13395711
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.

rs13395711

Current Build 156

Released September 21, 2022

Organism: Homo sapiens
Position: chr2:101712355 (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: C>T
Variation Type: SNV Single Nucleotide Variation
Frequency: T=0.106475 (28183/264690, TOPMED)
T=0.101530 (14157/139436, GnomAD)
T=0.01437 (406/28256, 14KJPN) (+ 17 more)
T=0.07920 (1496/18890, ALFA)
T=0.01450 (243/16760, 8.3KJPN)
T=0.1220 (781/6404, 1000G_30x)
T=0.1198 (600/5008, 1000G)
T=0.0460 (206/4480, Estonian)
T=0.0439 (169/3854, ALSPAC)
T=0.0437 (162/3708, TWINSUK)
T=0.0253 (74/2922, KOREAN)
T=0.0262 (48/1832, Korea1K)
T=0.056 (56/998, GoNL)
T=0.033 (20/600, NorthernSweden)
T=0.083 (18/216, Qatari)
T=0.120 (25/208, Vietnamese)
C=0.46 (41/90, SGDP_PRJ)
T=0.07 (3/40, GENOME_DK)
C=0.5 (2/4, Siberian)
T=0.5 (2/4, Siberian)

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	18890	C=0.92080	T=0.07920
European	Sub	14286	C=0.95198	T=0.04802
African	Sub	2946	C=0.7716	T=0.2284
African Others	Sub	114	C=0.763	T=0.237
African American	Sub	2832	C=0.7719	T=0.2281
Asian	Sub	112	C=0.893	T=0.107
East Asian	Sub	86	C=0.90	T=0.10
Other Asian	Sub	26	C=0.88	T=0.12
Latin American 1	Sub	146	C=0.918	T=0.082
Latin American 2	Sub	610	C=0.936	T=0.064
South Asian	Sub	98	C=0.91	T=0.09
Other	Sub	692	C=0.906	T=0.094

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	C=0.893525	T=0.106475
gnomAD - Genomes	Global	Study-wide	139436	C=0.898470	T=0.101530
gnomAD - Genomes	European	Sub	75596	C=0.95341	T=0.04659
gnomAD - Genomes	African	Sub	41692	C=0.77876	T=0.22124
gnomAD - Genomes	American	Sub	13578	C=0.92908	T=0.07092
gnomAD - Genomes	Ashkenazi Jewish	Sub	3318	C=0.9777	T=0.0223
gnomAD - Genomes	East Asian	Sub	3112	C=0.9383	T=0.0617
gnomAD - Genomes	Other	Sub	2140	C=0.9150	T=0.0850
14KJPN	JAPANESE	Study-wide	28256	C=0.98563	T=0.01437
Allele Frequency Aggregator	Total	Global	18890	C=0.92080	T=0.07920
Allele Frequency Aggregator	European	Sub	14286	C=0.95198	T=0.04802
Allele Frequency Aggregator	African	Sub	2946	C=0.7716	T=0.2284
Allele Frequency Aggregator	Other	Sub	692	C=0.906	T=0.094
Allele Frequency Aggregator	Latin American 2	Sub	610	C=0.936	T=0.064
Allele Frequency Aggregator	Latin American 1	Sub	146	C=0.918	T=0.082
Allele Frequency Aggregator	Asian	Sub	112	C=0.893	T=0.107
Allele Frequency Aggregator	South Asian	Sub	98	C=0.91	T=0.09
8.3KJPN	JAPANESE	Study-wide	16760	C=0.98550	T=0.01450
1000Genomes_30x	Global	Study-wide	6404	C=0.8780	T=0.1220
1000Genomes_30x	African	Sub	1786	C=0.7228	T=0.2772
1000Genomes_30x	Europe	Sub	1266	C=0.9408	T=0.0592
1000Genomes_30x	South Asian	Sub	1202	C=0.9534	T=0.0466
1000Genomes_30x	East Asian	Sub	1170	C=0.9368	T=0.0632
1000Genomes_30x	American	Sub	980	C=0.917	T=0.083
1000Genomes	Global	Study-wide	5008	C=0.8802	T=0.1198
1000Genomes	African	Sub	1322	C=0.7194	T=0.2806
1000Genomes	East Asian	Sub	1008	C=0.9325	T=0.0675
1000Genomes	Europe	Sub	1006	C=0.9404	T=0.0596
1000Genomes	South Asian	Sub	978	C=0.955	T=0.045
1000Genomes	American	Sub	694	C=0.918	T=0.082
Genetic variation in the Estonian population	Estonian	Study-wide	4480	C=0.9540	T=0.0460
The Avon Longitudinal Study of Parents and Children	PARENT AND CHILD COHORT	Study-wide	3854	C=0.9561	T=0.0439
UK 10K study - Twins	TWIN COHORT	Study-wide	3708	C=0.9563	T=0.0437
KOREAN population from KRGDB	KOREAN	Study-wide	2922	C=0.9747	T=0.0253
Korean Genome Project	KOREAN	Study-wide	1832	C=0.9738	T=0.0262
Genome of the Netherlands Release 5	Genome of the Netherlands	Study-wide	998	C=0.944	T=0.056
Northern Sweden	ACPOP	Study-wide	600	C=0.967	T=0.033
Qatari	Global	Study-wide	216	C=0.917	T=0.083
A Vietnamese Genetic Variation Database	Global	Study-wide	208	C=0.880	T=0.120
SGDP_PRJ	Global	Study-wide	90	C=0.46	T=0.54
The Danish reference pan genome	Danish	Study-wide	40	C=0.93	T=0.07
Siberian	Global	Study-wide	4	C=0.5	T=0.5

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.101712355C>T
GRCh37.p13 chr 2	NC_000002.11:g.102328817C>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+1381… NM_001242559.2:c.123+13817C>T	N/A	Intron Variant
MAP4K4 transcript variant 5	NM_001242560.2:c.123+1381… NM_001242560.2:c.123+13817C>T	N/A	Intron Variant
MAP4K4 transcript variant 6	NM_001384476.1:c.123+1381… NM_001384476.1:c.123+13817C>T	N/A	Intron Variant
MAP4K4 transcript variant 7	NM_001384477.1:c.123+1381… NM_001384477.1:c.123+13817C>T	N/A	Intron Variant
MAP4K4 transcript variant 8	NM_001384478.1:c.123+1381… NM_001384478.1:c.123+13817C>T	N/A	Intron Variant
MAP4K4 transcript variant 9	NM_001384481.1:c.123+1381… NM_001384481.1:c.123+13817C>T	N/A	Intron Variant
MAP4K4 transcript variant 10	NM_001384482.1:c.123+1381… NM_001384482.1:c.123+13817C>T	N/A	Intron Variant
MAP4K4 transcript variant 11	NM_001384483.1:c.123+1381… NM_001384483.1:c.123+13817C>T	N/A	Intron Variant
MAP4K4 transcript variant 12	NM_001384484.1:c.123+1381… NM_001384484.1:c.123+13817C>T	N/A	Intron Variant
MAP4K4 transcript variant 13	NM_001384485.1:c.123+1381… NM_001384485.1:c.123+13817C>T	N/A	Intron Variant
MAP4K4 transcript variant 14	NM_001384486.1:c.123+1381… NM_001384486.1:c.123+13817C>T	N/A	Intron Variant
MAP4K4 transcript variant 15	NM_001384487.1:c.123+1381… NM_001384487.1:c.123+13817C>T	N/A	Intron Variant
MAP4K4 transcript variant 16	NM_001384488.1:c.123+1381… NM_001384488.1:c.123+13817C>T	N/A	Intron Variant
MAP4K4 transcript variant 18	NM_001384490.1:c.123+1381… NM_001384490.1:c.123+13817C>T	N/A	Intron Variant
MAP4K4 transcript variant 19	NM_001384491.1:c.123+1381… NM_001384491.1:c.123+13817C>T	N/A	Intron Variant
MAP4K4 transcript variant 20	NM_001384492.1:c.123+1381… NM_001384492.1:c.123+13817C>T	N/A	Intron Variant
MAP4K4 transcript variant 21	NM_001384493.1:c.123+1381… NM_001384493.1:c.123+13817C>T	N/A	Intron Variant
MAP4K4 transcript variant 22	NM_001384494.1:c.123+1381… NM_001384494.1:c.123+13817C>T	N/A	Intron Variant
MAP4K4 transcript variant 23	NM_001384495.1:c.123+1381… NM_001384495.1:c.123+13817C>T	N/A	Intron Variant
MAP4K4 transcript variant 24	NM_001384496.1:c.123+1381… NM_001384496.1:c.123+13817C>T	N/A	Intron Variant
MAP4K4 transcript variant 25	NM_001384497.1:c.123+1381… NM_001384497.1:c.123+13817C>T	N/A	Intron Variant
MAP4K4 transcript variant 27	NM_001384506.1:c.123+1381… NM_001384506.1:c.123+13817C>T	N/A	Intron Variant
MAP4K4 transcript variant 28	NM_001384507.1:c.123+1381… NM_001384507.1:c.123+13817C>T	N/A	Intron Variant
MAP4K4 transcript variant 29	NM_001384508.1:c.123+1381… NM_001384508.1:c.123+13817C>T	N/A	Intron Variant
MAP4K4 transcript variant 30	NM_001384509.1:c.123+1381… NM_001384509.1:c.123+13817C>T	N/A	Intron Variant
MAP4K4 transcript variant 31	NM_001384520.1:c.123+1381… NM_001384520.1:c.123+13817C>T	N/A	Intron Variant
MAP4K4 transcript variant 32	NM_001384543.1:c.123+1381… NM_001384543.1:c.123+13817C>T	N/A	Intron Variant
MAP4K4 transcript variant 35	NM_001384548.1:c.123+1381… NM_001384548.1:c.123+13817C>T	N/A	Intron Variant
MAP4K4 transcript variant 36	NM_001384549.1:c.96+13817… NM_001384549.1:c.96+13817C>T	N/A	Intron Variant
MAP4K4 transcript variant 37	NM_001384550.1:c.96+13817… NM_001384550.1:c.96+13817C>T	N/A	Intron Variant
MAP4K4 transcript variant 38	NM_001384551.1:c.96+13817… NM_001384551.1:c.96+13817C>T	N/A	Intron Variant
MAP4K4 transcript variant 39	NM_001384552.1:c.96+13817… NM_001384552.1:c.96+13817C>T	N/A	Intron Variant
MAP4K4 transcript variant 40	NM_001384553.1:c.96+13817… NM_001384553.1:c.96+13817C>T	N/A	Intron Variant
MAP4K4 transcript variant 41	NM_001384554.1:c.96+13817… NM_001384554.1:c.96+13817C>T	N/A	Intron Variant
MAP4K4 transcript variant 42	NM_001384555.1:c.96+13817… NM_001384555.1:c.96+13817C>T	N/A	Intron Variant
MAP4K4 transcript variant 43	NM_001384556.1:c.96+13817… NM_001384556.1:c.96+13817C>T	N/A	Intron Variant
MAP4K4 transcript variant 44	NM_001384557.1:c.96+13817… NM_001384557.1:c.96+13817C>T	N/A	Intron Variant
MAP4K4 transcript variant 45	NM_001384558.1:c.96+13817… NM_001384558.1:c.96+13817C>T	N/A	Intron Variant
MAP4K4 transcript variant 46	NM_001384559.1:c.96+13817… NM_001384559.1:c.96+13817C>T	N/A	Intron Variant
MAP4K4 transcript variant 47	NM_001384560.1:c.96+13817… NM_001384560.1:c.96+13817C>T	N/A	Intron Variant
MAP4K4 transcript variant 48	NM_001384561.1:c.96+13817… NM_001384561.1:c.96+13817C>T	N/A	Intron Variant
MAP4K4 transcript variant 49	NM_001384562.1:c.96+13817… NM_001384562.1:c.96+13817C>T	N/A	Intron Variant
MAP4K4 transcript variant 50	NM_001384563.1:c.96+13817… NM_001384563.1:c.96+13817C>T	N/A	Intron Variant
MAP4K4 transcript variant 51	NM_001384564.1:c.96+13817… NM_001384564.1:c.96+13817C>T	N/A	Intron Variant
MAP4K4 transcript variant 52	NM_001384567.1:c.96+13817… NM_001384567.1:c.96+13817C>T	N/A	Intron Variant
MAP4K4 transcript variant 53	NM_001384572.1:c.96+13817… NM_001384572.1:c.96+13817C>T	N/A	Intron Variant
MAP4K4 transcript variant 54	NM_001384579.1:c.96+13817… NM_001384579.1:c.96+13817C>T	N/A	Intron Variant
MAP4K4 transcript variant 55	NM_001395002.1:c.123+1381… NM_001395002.1:c.123+13817C>T	N/A	Intron Variant
MAP4K4 transcript variant 1	NM_004834.5:c.123+13817C>T	N/A	Intron Variant
MAP4K4 transcript variant 2	NM_145686.4:c.123+13817C>T	N/A	Intron Variant
MAP4K4 transcript variant 3	NM_145687.4:c.123+13817C>T	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	C=	T
GRCh38.p14 chr 2	NC_000002.12:g.101712355=	NC_000002.12:g.101712355C>T
GRCh37.p13 chr 2	NC_000002.11:g.102328817=	NC_000002.11:g.102328817C>T
MAP4K4 transcript variant 4	NM_001242559.1:c.123+13817=	NM_001242559.1:c.123+13817C>T
MAP4K4 transcript variant 4	NM_001242559.2:c.123+13817=	NM_001242559.2:c.123+13817C>T
MAP4K4 transcript variant 5	NM_001242560.1:c.123+13817=	NM_001242560.1:c.123+13817C>T
MAP4K4 transcript variant 5	NM_001242560.2:c.123+13817=	NM_001242560.2:c.123+13817C>T
MAP4K4 transcript variant 6	NM_001384476.1:c.123+13817=	NM_001384476.1:c.123+13817C>T
MAP4K4 transcript variant 7	NM_001384477.1:c.123+13817=	NM_001384477.1:c.123+13817C>T
MAP4K4 transcript variant 8	NM_001384478.1:c.123+13817=	NM_001384478.1:c.123+13817C>T
MAP4K4 transcript variant 9	NM_001384481.1:c.123+13817=	NM_001384481.1:c.123+13817C>T
MAP4K4 transcript variant 10	NM_001384482.1:c.123+13817=	NM_001384482.1:c.123+13817C>T
MAP4K4 transcript variant 11	NM_001384483.1:c.123+13817=	NM_001384483.1:c.123+13817C>T
MAP4K4 transcript variant 12	NM_001384484.1:c.123+13817=	NM_001384484.1:c.123+13817C>T
MAP4K4 transcript variant 13	NM_001384485.1:c.123+13817=	NM_001384485.1:c.123+13817C>T
MAP4K4 transcript variant 14	NM_001384486.1:c.123+13817=	NM_001384486.1:c.123+13817C>T
MAP4K4 transcript variant 15	NM_001384487.1:c.123+13817=	NM_001384487.1:c.123+13817C>T
MAP4K4 transcript variant 16	NM_001384488.1:c.123+13817=	NM_001384488.1:c.123+13817C>T
MAP4K4 transcript variant 18	NM_001384490.1:c.123+13817=	NM_001384490.1:c.123+13817C>T
MAP4K4 transcript variant 19	NM_001384491.1:c.123+13817=	NM_001384491.1:c.123+13817C>T
MAP4K4 transcript variant 20	NM_001384492.1:c.123+13817=	NM_001384492.1:c.123+13817C>T
MAP4K4 transcript variant 21	NM_001384493.1:c.123+13817=	NM_001384493.1:c.123+13817C>T
MAP4K4 transcript variant 22	NM_001384494.1:c.123+13817=	NM_001384494.1:c.123+13817C>T
MAP4K4 transcript variant 23	NM_001384495.1:c.123+13817=	NM_001384495.1:c.123+13817C>T
MAP4K4 transcript variant 24	NM_001384496.1:c.123+13817=	NM_001384496.1:c.123+13817C>T
MAP4K4 transcript variant 25	NM_001384497.1:c.123+13817=	NM_001384497.1:c.123+13817C>T
MAP4K4 transcript variant 27	NM_001384506.1:c.123+13817=	NM_001384506.1:c.123+13817C>T
MAP4K4 transcript variant 28	NM_001384507.1:c.123+13817=	NM_001384507.1:c.123+13817C>T
MAP4K4 transcript variant 29	NM_001384508.1:c.123+13817=	NM_001384508.1:c.123+13817C>T
MAP4K4 transcript variant 30	NM_001384509.1:c.123+13817=	NM_001384509.1:c.123+13817C>T
MAP4K4 transcript variant 31	NM_001384520.1:c.123+13817=	NM_001384520.1:c.123+13817C>T
MAP4K4 transcript variant 32	NM_001384543.1:c.123+13817=	NM_001384543.1:c.123+13817C>T
MAP4K4 transcript variant 35	NM_001384548.1:c.123+13817=	NM_001384548.1:c.123+13817C>T
MAP4K4 transcript variant 36	NM_001384549.1:c.96+13817=	NM_001384549.1:c.96+13817C>T
MAP4K4 transcript variant 37	NM_001384550.1:c.96+13817=	NM_001384550.1:c.96+13817C>T
MAP4K4 transcript variant 38	NM_001384551.1:c.96+13817=	NM_001384551.1:c.96+13817C>T
MAP4K4 transcript variant 39	NM_001384552.1:c.96+13817=	NM_001384552.1:c.96+13817C>T
MAP4K4 transcript variant 40	NM_001384553.1:c.96+13817=	NM_001384553.1:c.96+13817C>T
MAP4K4 transcript variant 41	NM_001384554.1:c.96+13817=	NM_001384554.1:c.96+13817C>T
MAP4K4 transcript variant 42	NM_001384555.1:c.96+13817=	NM_001384555.1:c.96+13817C>T
MAP4K4 transcript variant 43	NM_001384556.1:c.96+13817=	NM_001384556.1:c.96+13817C>T
MAP4K4 transcript variant 44	NM_001384557.1:c.96+13817=	NM_001384557.1:c.96+13817C>T
MAP4K4 transcript variant 45	NM_001384558.1:c.96+13817=	NM_001384558.1:c.96+13817C>T
MAP4K4 transcript variant 46	NM_001384559.1:c.96+13817=	NM_001384559.1:c.96+13817C>T
MAP4K4 transcript variant 47	NM_001384560.1:c.96+13817=	NM_001384560.1:c.96+13817C>T
MAP4K4 transcript variant 48	NM_001384561.1:c.96+13817=	NM_001384561.1:c.96+13817C>T
MAP4K4 transcript variant 49	NM_001384562.1:c.96+13817=	NM_001384562.1:c.96+13817C>T
MAP4K4 transcript variant 50	NM_001384563.1:c.96+13817=	NM_001384563.1:c.96+13817C>T
MAP4K4 transcript variant 51	NM_001384564.1:c.96+13817=	NM_001384564.1:c.96+13817C>T
MAP4K4 transcript variant 52	NM_001384567.1:c.96+13817=	NM_001384567.1:c.96+13817C>T
MAP4K4 transcript variant 53	NM_001384572.1:c.96+13817=	NM_001384572.1:c.96+13817C>T
MAP4K4 transcript variant 54	NM_001384579.1:c.96+13817=	NM_001384579.1:c.96+13817C>T
MAP4K4 transcript variant 55	NM_001395002.1:c.123+13817=	NM_001395002.1:c.123+13817C>T
MAP4K4 transcript variant 1	NM_004834.4:c.123+13817=	NM_004834.4:c.123+13817C>T
MAP4K4 transcript variant 1	NM_004834.5:c.123+13817=	NM_004834.5:c.123+13817C>T
MAP4K4 transcript variant 2	NM_145686.3:c.123+13817=	NM_145686.3:c.123+13817C>T
MAP4K4 transcript variant 2	NM_145686.4:c.123+13817=	NM_145686.4:c.123+13817C>T
MAP4K4 transcript variant 3	NM_145687.3:c.123+13817=	NM_145687.3:c.123+13817C>T
MAP4K4 transcript variant 3	NM_145687.4:c.123+13817=	NM_145687.4:c.123+13817C>T
MAP4K4 transcript variant X1	XM_005264044.1:c.123+13817=	XM_005264044.1:c.123+13817C>T
MAP4K4 transcript variant X2	XM_005264045.1:c.123+13817=	XM_005264045.1:c.123+13817C>T
MAP4K4 transcript variant X3	XM_005264046.1:c.123+13817=	XM_005264046.1:c.123+13817C>T
MAP4K4 transcript variant X4	XM_005264047.1:c.123+13817=	XM_005264047.1:c.123+13817C>T
MAP4K4 transcript variant X5	XM_005264048.1:c.123+13817=	XM_005264048.1:c.123+13817C>T
MAP4K4 transcript variant X6	XM_005264049.1:c.123+13817=	XM_005264049.1:c.123+13817C>T
MAP4K4 transcript variant X7	XM_005264050.1:c.123+13817=	XM_005264050.1:c.123+13817C>T
MAP4K4 transcript variant X8	XM_005264051.1:c.123+13817=	XM_005264051.1:c.123+13817C>T
MAP4K4 transcript variant X9	XM_005264052.1:c.123+13817=	XM_005264052.1:c.123+13817C>T
MAP4K4 transcript variant X10	XM_005264053.1:c.123+13817=	XM_005264053.1:c.123+13817C>T
MAP4K4 transcript variant X11	XM_005264054.1:c.123+13817=	XM_005264054.1:c.123+13817C>T
MAP4K4 transcript variant X12	XM_005264055.1:c.123+13817=	XM_005264055.1:c.123+13817C>T
MAP4K4 transcript variant X13	XM_005264056.1:c.123+13817=	XM_005264056.1:c.123+13817C>T
MAP4K4 transcript variant X14	XM_005264057.1:c.123+13817=	XM_005264057.1:c.123+13817C>T
MAP4K4 transcript variant X15	XM_005264058.1:c.123+13817=	XM_005264058.1:c.123+13817C>T
MAP4K4 transcript variant X16	XM_005264059.1:c.123+13817=	XM_005264059.1:c.123+13817C>T
MAP4K4 transcript variant X17	XM_005264060.1:c.123+13817=	XM_005264060.1:c.123+13817C>T
MAP4K4 transcript variant X19	XM_005264062.1:c.123+13817=	XM_005264062.1:c.123+13817C>T
MAP4K4 transcript variant X20	XM_005264063.1:c.123+13817=	XM_005264063.1:c.123+13817C>T
MAP4K4 transcript variant X21	XM_005264064.1:c.123+13817=	XM_005264064.1:c.123+13817C>T
MAP4K4 transcript variant X22	XM_005264065.1:c.123+13817=	XM_005264065.1:c.123+13817C>T
MAP4K4 transcript variant X23	XM_005264066.1:c.123+13817=	XM_005264066.1:c.123+13817C>T
MAP4K4 transcript variant X24	XM_005264067.1:c.123+13817=	XM_005264067.1:c.123+13817C>T
MAP4K4 transcript variant X25	XM_005264068.1:c.123+13817=	XM_005264068.1:c.123+13817C>T
MAP4K4 transcript variant X26	XM_005264069.1:c.123+13817=	XM_005264069.1:c.123+13817C>T
MAP4K4 transcript variant X27	XM_005264070.1:c.123+13817=	XM_005264070.1:c.123+13817C>T
MAP4K4 transcript variant X28	XM_005264071.1:c.123+13817=	XM_005264071.1:c.123+13817C>T
MAP4K4 transcript variant X29	XM_005264072.1:c.123+13817=	XM_005264072.1:c.123+13817C>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#.

42 SubSNP, 19 Frequency submissions

No	Submitter	Submission ID	Date (Build)
1	WUGSC_SSAHASNP	ss23068959	Apr 05, 2004 (121)
2	BUSHMAN	ss200807069	Jul 04, 2010 (132)
3	1000GENOMES	ss329832424	May 09, 2011 (134)
4	SSMP	ss649366200	Apr 25, 2013 (138)
5	EVA-GONL	ss977148942	Aug 21, 2014 (142)
6	JMKIDD_LAB	ss1069343919	Aug 21, 2014 (142)
7	1000GENOMES	ss1298503316	Aug 21, 2014 (142)
8	DDI	ss1428672497	Apr 01, 2015 (144)
9	EVA_GENOME_DK	ss1579001339	Apr 01, 2015 (144)
10	EVA_DECODE	ss1586571908	Apr 01, 2015 (144)
11	EVA_UK10K_ALSPAC	ss1604147494	Apr 01, 2015 (144)
12	EVA_UK10K_TWINSUK	ss1647141527	Apr 01, 2015 (144)
13	HAMMER_LAB	ss1797186849	Sep 08, 2015 (146)
14	WEILL_CORNELL_DGM	ss1920394269	Feb 12, 2016 (147)
15	JJLAB	ss2020727245	Sep 14, 2016 (149)
16	USC_VALOUEV	ss2148782726	Dec 20, 2016 (150)
17	HUMAN_LONGEVITY	ss2232730373	Dec 20, 2016 (150)
18	GRF	ss2703385701	Nov 08, 2017 (151)
19	GNOMAD	ss2777260798	Nov 08, 2017 (151)
20	SWEGEN	ss2990071566	Nov 08, 2017 (151)
21	CSHL	ss3344377875	Nov 08, 2017 (151)
22	EGCUT_WGS	ss3657961531	Jul 13, 2019 (153)
23	EVA_DECODE	ss3704503124	Jul 13, 2019 (153)
24	ACPOP	ss3728691758	Jul 13, 2019 (153)
25	EVA	ss3757132921	Jul 13, 2019 (153)
26	KHV_HUMAN_GENOMES	ss3801500776	Jul 13, 2019 (153)
27	SGDP_PRJ	ss3852958488	Apr 25, 2020 (154)
28	KRGDB	ss3898490695	Apr 25, 2020 (154)
29	KOGIC	ss3948547678	Apr 25, 2020 (154)
30	TOPMED	ss4516846393	Apr 26, 2021 (155)
31	TOMMO_GENOMICS	ss5152899741	Apr 26, 2021 (155)
32	1000G_HIGH_COVERAGE	ss5249274907	Oct 17, 2022 (156)
33	EVA	ss5330986810	Oct 17, 2022 (156)
34	EVA	ss5506512028	Oct 17, 2022 (156)
35	1000G_HIGH_COVERAGE	ss5525159358	Oct 17, 2022 (156)
36	SANFORD_IMAGENETICS	ss5629380452	Oct 17, 2022 (156)
37	TOMMO_GENOMICS	ss5682742640	Oct 17, 2022 (156)
38	YY_MCH	ss5802541712	Oct 17, 2022 (156)
39	EVA	ss5820520012	Oct 17, 2022 (156)
40	EVA	ss5852637583	Oct 17, 2022 (156)
41	EVA	ss5931581401	Oct 17, 2022 (156)
42	EVA	ss5955594806	Oct 17, 2022 (156)
43	1000Genomes	NC_000002.11 - 102328817	Oct 11, 2018 (152)
44	1000Genomes_30x	NC_000002.12 - 101712355	Oct 17, 2022 (156)
45	The Avon Longitudinal Study of Parents and Children	NC_000002.11 - 102328817	Oct 11, 2018 (152)
46	Genetic variation in the Estonian population	NC_000002.11 - 102328817	Oct 11, 2018 (152)
47	The Danish reference pan genome	NC_000002.11 - 102328817	Apr 25, 2020 (154)
48	gnomAD - Genomes	NC_000002.12 - 101712355	Apr 26, 2021 (155)
49	Genome of the Netherlands Release 5	NC_000002.11 - 102328817	Apr 25, 2020 (154)
50	KOREAN population from KRGDB	NC_000002.11 - 102328817	Apr 25, 2020 (154)
51	Korean Genome Project	NC_000002.12 - 101712355	Apr 25, 2020 (154)
52	Northern Sweden	NC_000002.11 - 102328817	Jul 13, 2019 (153)
53	Qatari	NC_000002.11 - 102328817	Apr 25, 2020 (154)
54	SGDP_PRJ	NC_000002.11 - 102328817	Apr 25, 2020 (154)
55	Siberian	NC_000002.11 - 102328817	Apr 25, 2020 (154)
56	8.3KJPN	NC_000002.11 - 102328817	Apr 26, 2021 (155)
57	14KJPN	NC_000002.12 - 101712355	Oct 17, 2022 (156)
58	TopMed	NC_000002.12 - 101712355	Apr 26, 2021 (155)
59	UK 10K study - Twins	NC_000002.11 - 102328817	Oct 11, 2018 (152)
60	A Vietnamese Genetic Variation Database	NC_000002.11 - 102328817	Jul 13, 2019 (153)
61	ALFA	NC_000002.12 - 101712355	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).

Added to this RefSNP Cluster:

Submission IDs	Observation SPDI	Canonical SPDI	Source RSIDs
ss200807069, ss1586571908	NC_000002.10:101695248:C:T	NC_000002.12:101712354:C:T	(self)
9491059, 5239025, 3699779, 5169003, 2302603, 5668089, 1976623, 2436199, 4975468, 1299080, 10869048, 5239025, 1137031, ss329832424, ss649366200, ss977148942, ss1069343919, ss1298503316, ss1428672497, ss1579001339, ss1604147494, ss1647141527, ss1797186849, ss1920394269, ss2020727245, ss2148782726, ss2703385701, ss2777260798, ss2990071566, ss3344377875, ss3657961531, ss3728691758, ss3757132921, ss3852958488, ss3898490695, ss5152899741, ss5330986810, ss5506512028, ss5629380452, ss5820520012, ss5955594806	NC_000002.11:102328816:C:T	NC_000002.12:101712354:C:T	(self)
12685293, 67775487, 4925679, 16579744, 320669272, 14182526584, ss2232730373, ss3704503124, ss3801500776, ss3948547678, ss4516846393, ss5249274907, ss5525159358, ss5682742640, ss5802541712, ss5852637583, ss5931581401	NC_000002.12:101712354:C:T	NC_000002.12:101712354:C:T	(self)
ss23068959	NT_022171.13:4394840:C:T	NC_000002.12:101712354:C: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 rs13395711

The Flanks tab provides retrieving flanking sequences of a SNP on all molecules that have placements.

Genome context:

Select flank length:

Genomic regions, transcripts, and products
Top▲ Help
NCBI Graphical Sequence Viewer display of the genomic region, transcripts and protein products for the reported RefSNP (rs).
Use the zoom option to view the nucleotides around the RefSNP and find other neighboring RefSNPs.
Visit Sequence Viewer for help with navigating inside the display and modifying the selection of displayed data tracks.

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dbSNP Short Genetic Variations

Welcome to the Reference SNP (rs) Report

Reference SNP (rs) Report

rs13395711