SNP Links for Nucleotide (Select 300797820) - SNP

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Select item 14915369571.

rs1491536957 has merged into rs201750543 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:60467285 (GRCh38)
11:60234758 (GRCh37)
Canonical SPDI:: NC_000011.10:60467277:TTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000011.10:60467277:TTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000011.10:60467277:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000011.10:60467277:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:60467277:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:60467277:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:60467277:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:60467277:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:60467277:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:60467277:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:60467277:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:60467277:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:60467277:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:60467277:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:60467277:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MS4A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
TTTTTTTTTTT=0./0 (GENOME_DK)
-=0.08194/49 (NorthernSweden)
-=0.09625/482 (1000Genomes)
HGVS:: NC_000011.10:g.60467285_60467295del, NC_000011.10:g.60467286_60467295del, NC_000011.10:g.60467292_60467295del, NC_000011.10:g.60467293_60467295del, NC_000011.10:g.60467294_60467295del, NC_000011.10:g.60467295del, NC_000011.10:g.60467295dup, NC_000011.10:g.60467294_60467295dup, NC_000011.10:g.60467293_60467295dup, NC_000011.10:g.60467292_60467295dup, NC_000011.10:g.60467291_60467295dup, NC_000011.10:g.60467290_60467295dup, NC_000011.10:g.60467289_60467295dup, NC_000011.10:g.60467288_60467295dup, NC_000011.10:g.60467285_60467295dup, NC_000011.9:g.60234758_60234768del, NC_000011.9:g.60234759_60234768del, NC_000011.9:g.60234765_60234768del, NC_000011.9:g.60234766_60234768del, NC_000011.9:g.60234767_60234768del, NC_000011.9:g.60234768del, NC_000011.9:g.60234768dup, NC_000011.9:g.60234767_60234768dup, NC_000011.9:g.60234766_60234768dup, NC_000011.9:g.60234765_60234768dup, NC_000011.9:g.60234764_60234768dup, NC_000011.9:g.60234763_60234768dup, NC_000011.9:g.60234762_60234768dup, NC_000011.9:g.60234761_60234768dup, NC_000011.9:g.60234758_60234768dup, NG_023388.1:g.16477_16487del, NG_023388.1:g.16478_16487del, NG_023388.1:g.16484_16487del, NG_023388.1:g.16485_16487del, NG_023388.1:g.16486_16487del, NG_023388.1:g.16487del, NG_023388.1:g.16487dup, NG_023388.1:g.16486_16487dup, NG_023388.1:g.16485_16487dup, NG_023388.1:g.16484_16487dup, NG_023388.1:g.16483_16487dup, NG_023388.1:g.16482_16487dup, NG_023388.1:g.16481_16487dup, NG_023388.1:g.16480_16487dup, NG_023388.1:g.16477_16487dup

Select item 14908501372.

rs1490850137 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:60467334 (GRCh38)
11:60234807 (GRCh37)
Canonical SPDI:: NC_000011.10:60467333:A:G
Gene:: MS4A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000011.10:g.60467334A>G, NC_000011.9:g.60234807A>G, NG_023388.1:g.16526A>G

Select item 14908174033.

rs1490817403 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:60451256 (GRCh38)
11:60218729 (GRCh37)
Canonical SPDI:: NC_000011.10:60451255:C:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.60451256C>G, NC_000011.9:g.60218729C>G, NG_023388.1:g.448C>G

Select item 14907059314.

rs1490705931 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 11:60470624 (GRCh38)
11:60238097 (GRCh37)
Canonical SPDI:: NC_000011.10:60470623:C:A,NC_000011.10:60470623:C:G
Gene:: MS4A1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.60470624C>A, NC_000011.10:g.60470624C>G, NC_000011.9:g.60238097C>A, NC_000011.9:g.60238097C>G, NG_023388.1:g.19816C>A, NG_023388.1:g.19816C>G, NM_021950.4:c.*2156C>A, NM_021950.4:c.*2156C>G, NM_021950.3:c.*2156C>A, NM_021950.3:c.*2156C>G, NM_152866.3:c.*2156C>A, NM_152866.3:c.*2156C>G, NM_152866.2:c.*2156C>A, NM_152866.2:c.*2156C>G, NM_152867.2:c.*2156C>A, NM_152867.2:c.*2156C>G

Select item 14903069545.

rs1490306954 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 11:60464022 (GRCh38)
11:60231495 (GRCh37)
Canonical SPDI:: NC_000011.10:60464020:TTT:T
Gene:: MS4A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.60464022_60464023del, NC_000011.9:g.60231495_60231496del, NG_023388.1:g.13214_13215del

Select item 14899931046.

rs1489993104 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:60453979 (GRCh38)
11:60221452 (GRCh37)
Canonical SPDI:: NC_000011.10:60453978:C:T
Gene:: MS4A1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.60453979C>T, NC_000011.9:g.60221452C>T, NG_023388.1:g.3171C>T

Select item 14898882167.

rs1489888216 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:60471143 (GRCh38)
11:60238616 (GRCh37)
Canonical SPDI:: NC_000011.10:60471142:T:C
Gene:: MS4A1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.60471143T>C, NC_000011.9:g.60238616T>C, NG_023388.1:g.20335T>C

Select item 14898179438.

rs1489817943 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:60463489 (GRCh38)
11:60230962 (GRCh37)
Canonical SPDI:: NC_000011.10:60463488:G:A
Gene:: MS4A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.60463489G>A, NC_000011.9:g.60230962G>A, NG_023388.1:g.12681G>A

Select item 14895933889.

rs1489593388 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:60456129 (GRCh38)
11:60223602 (GRCh37)
Canonical SPDI:: NC_000011.10:60456128:T:G
Gene:: MS4A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.60456129T>G, NC_000011.9:g.60223602T>G, NG_023388.1:g.5321T>G

Select item 148951588410.

rs1489515884 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:60464567 (GRCh38)
11:60232040 (GRCh37)
Canonical SPDI:: NC_000011.10:60464566:A:C
Gene:: MS4A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.60464567A>C, NC_000011.9:g.60232040A>C, NG_023388.1:g.13759A>C

Select item 148948715011.

rs1489487150 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAG>- [Show Flanks]
Chromosome:: 11:60460038 (GRCh38)
11:60227511 (GRCh37)
Canonical SPDI:: NC_000011.10:60460035:AGGAG:AG
Gene:: MS4A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.60460038_60460040del, NC_000011.9:g.60227511_60227513del, NG_023388.1:g.9230_9232del

Select item 148944793012.

rs1489447930 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:60469455 (GRCh38)
11:60236928 (GRCh37)
Canonical SPDI:: NC_000011.10:60469454:G:C
Gene:: MS4A1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.60469455G>C, NC_000011.9:g.60236928G>C, NG_023388.1:g.18647G>C, NM_021950.4:c.*987G>C, NM_021950.3:c.*987G>C, NM_152866.3:c.*987G>C, NM_152866.2:c.*987G>C, NM_152867.2:c.*987G>C

Select item 148918652913.

rs1489186529 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:60464447 (GRCh38)
11:60231920 (GRCh37)
Canonical SPDI:: NC_000011.10:60464446:G:A
Gene:: MS4A1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.60464447G>A, NC_000011.9:g.60231920G>A, NG_023388.1:g.13639G>A

Select item 148913107314.

rs1489131073 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:60450894 (GRCh38)
11:60218367 (GRCh37)
Canonical SPDI:: NC_000011.10:60450893:C:T
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.60450894C>T, NC_000011.9:g.60218367C>T, NG_023388.1:g.86C>T

Select item 148861728115.

rs1488617281 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:60455668 (GRCh38)
11:60223141 (GRCh37)
Canonical SPDI:: NC_000011.10:60455667:C:T
Gene:: MS4A1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.60455668C>T, NC_000011.9:g.60223141C>T, NG_023388.1:g.4860C>T

Select item 148860031116.

rs1488600311 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:60454309 (GRCh38)
11:60221782 (GRCh37)
Canonical SPDI:: NC_000011.10:60454308:C:T
Gene:: MS4A1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.60454309C>T, NC_000011.9:g.60221782C>T, NG_023388.1:g.3501C>T

Select item 148857389917.

rs1488573899 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:60451925 (GRCh38)
11:60219398 (GRCh37)
Canonical SPDI:: NC_000011.10:60451924:G:T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.60451925G>T, NC_000011.9:g.60219398G>T, NG_023388.1:g.1117G>T

Select item 148845857418.

rs1488458574 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:60451612 (GRCh38)
11:60219085 (GRCh37)
Canonical SPDI:: NC_000011.10:60451611:C:T
Validated:: by frequency,by alfa
MAF:: T=0.000169/2 (ALFA)
T=0.000204/22 (GnomAD)
HGVS:: NC_000011.10:g.60451612C>T, NC_000011.9:g.60219085C>T, NG_023388.1:g.804C>T

Select item 148816597819.

rs1488165978 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:60453317 (GRCh38)
11:60220790 (GRCh37)
Canonical SPDI:: NC_000011.10:60453316:T:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.00003/8 (TOPMED)
C=0.00006/1 (TOMMO)
HGVS:: NC_000011.10:g.60453317T>C, NC_000011.9:g.60220790T>C, NG_023388.1:g.2509T>C

Select item 148813877720.

rs1488138777 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:60472371 (GRCh38)
11:60239844 (GRCh37)
Canonical SPDI:: NC_000011.10:60472370:G:A,NC_000011.10:60472370:G:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.60472371G>A, NC_000011.10:g.60472371G>C, NC_000011.9:g.60239844G>A, NC_000011.9:g.60239844G>C, NG_023388.1:g.21563G>A, NG_023388.1:g.21563G>C

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