SNP Links for Gene (Select 8685) - SNP

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Select item 14915705951.

rs1491570595 has merged into rs3835093 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC,CCCCC [Show Flanks]
Chromosome:: 2:118990568 (GRCh38)
2:119748144 (GRCh37)
Canonical SPDI:: NC_000002.12:118990559:CCCCCCCCCC:CCCCCCCC,NC_000002.12:118990559:CCCCCCCCCC:CCCCCCCCC,NC_000002.12:118990559:CCCCCCCCCC:CCCCCCCCCCC,NC_000002.12:118990559:CCCCCCCCCC:CCCCCCCCCCCC,NC_000002.12:118990559:CCCCCCCCCC:CCCCCCCCCCCCC
Gene:: MARCO (Varview), LOC124906072 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCCC=0./0 (ALFA)
C=0.00952/20 (1000Genomes)
-=0.27686/1067 (ALSPAC)
-=0.27833/167 (NorthernSweden)
-=0.28776/1067 (TWINSUK)
-=0.34056/1523 (Estonian)
HGVS:: NC_000002.12:g.118990568_118990569del, NC_000002.12:g.118990569del, NC_000002.12:g.118990569dup, NC_000002.12:g.118990568_118990569dup, NC_000002.12:g.118990567_118990569dup, NC_000002.11:g.119748144_119748145del, NC_000002.11:g.119748145del, NC_000002.11:g.119748145dup, NC_000002.11:g.119748144_119748145dup, NC_000002.11:g.119748143_119748145dup

Select item 14915454672.

rs1491545467 has merged into rs543393291 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 2:118991265 (GRCh38)
2:119748841 (GRCh37)
Canonical SPDI:: NC_000002.12:118991253:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:118991253:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:118991253:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:118991253:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:118991253:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:118991253:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
Gene:: MARCO (Varview), LOC124906072 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.3563/1321 (TWINSUK)
-=0.3638/1402 (ALSPAC)
T=0.4491/2249 (1000Genomes)
-=0.5/20 (GENOME_DK)
HGVS:: NC_000002.12:g.118991265_118991266del, NC_000002.12:g.118991266del, NC_000002.12:g.118991266dup, NC_000002.12:g.118991265_118991266dup, NC_000002.12:g.118991264_118991266dup, NC_000002.12:g.118991263_118991266dup, NC_000002.11:g.119748841_119748842del, NC_000002.11:g.119748842del, NC_000002.11:g.119748842dup, NC_000002.11:g.119748841_119748842dup, NC_000002.11:g.119748840_119748842dup, NC_000002.11:g.119748839_119748842dup

Select item 14915258493.

rs1491525849 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:118958407 (GRCh38)
2:119715983 (GRCh37)
Canonical SPDI:: NC_000002.12:118958406:CA:
Gene:: MARCO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.118958407_118958408del, NC_000002.11:g.119715983_119715984del

Select item 14914477614.

rs1491447761 has merged into rs377378761 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,AAA,AAAA,AAAGAAAAA [Show Flanks]
Chromosome:: 2:118986699 (GRCh38)
2:119744275 (GRCh37)
Canonical SPDI:: NC_000002.12:118986697:AAA:A,NC_000002.12:118986697:AAA:AAAA,NC_000002.12:118986697:AAA:AAAAA,NC_000002.12:118986697:AAA:AAAAGAAAAA
Gene:: MARCO (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
-=0.00015/2 (TOMMO)
HGVS:: NC_000002.12:g.118986699_118986700del, NC_000002.12:g.118986700dup, NC_000002.12:g.118986699_118986700dup, NC_000002.12:g.118986698_118986700A[4]GAAAAA[1], NC_000002.11:g.119744275_119744276del, NC_000002.11:g.119744276dup, NC_000002.11:g.119744275_119744276dup, NC_000002.11:g.119744274_119744276A[4]GAAAAA[1]

Select item 14913036605.

rs1491303660 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->TATATGTGAGAA
Chromosome:: no mapping
Canonical SPDI:

Select item 14912968016.

rs1491296801 has merged into rs35333881 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:118958419 (GRCh38)
2:119715995 (GRCh37)
Canonical SPDI:: NC_000002.12:118958407:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:118958407:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:118958407:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:118958407:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:118958407:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:118958407:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:118958407:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:118958407:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:118958407:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:118958407:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MARCO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.2079/1041 (1000Genomes)
HGVS:: NC_000002.12:g.118958419_118958422del, NC_000002.12:g.118958420_118958422del, NC_000002.12:g.118958421_118958422del, NC_000002.12:g.118958422del, NC_000002.12:g.118958422dup, NC_000002.12:g.118958421_118958422dup, NC_000002.12:g.118958420_118958422dup, NC_000002.12:g.118958419_118958422dup, NC_000002.12:g.118958414_118958422dup, NC_000002.12:g.118958413_118958422dup, NC_000002.11:g.119715995_119715998del, NC_000002.11:g.119715996_119715998del, NC_000002.11:g.119715997_119715998del, NC_000002.11:g.119715998del, NC_000002.11:g.119715998dup, NC_000002.11:g.119715997_119715998dup, NC_000002.11:g.119715996_119715998dup, NC_000002.11:g.119715995_119715998dup, NC_000002.11:g.119715990_119715998dup, NC_000002.11:g.119715989_119715998dup

Select item 14912201867.

rs1491220186 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>-,GAGA,GAGAGA [Show Flanks]
Chromosome:: 2:118986609 (GRCh38)
2:119744185 (GRCh37)
Canonical SPDI:: NC_000002.12:118986607:AGA:A,NC_000002.12:118986607:AGA:AGAGA,NC_000002.12:118986607:AGA:AGAGAGA
Gene:: MARCO (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: AGAGA=0./0 (ALFA)
-=0.0002/3 (GnomAD)
HGVS:: NC_000002.12:g.118986609_118986610del, NC_000002.12:g.118986609_118986610dup, NC_000002.12:g.118986609GA[3], NC_000002.11:g.119744185_119744186del, NC_000002.11:g.119744185_119744186dup, NC_000002.11:g.119744185GA[3]

Select item 14912057708.

rs1491205770 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGAA [Show Flanks]
Chromosome:: 2:118986608 (GRCh38)
2:119744185 (GRCh37)
Canonical SPDI:: NC_000002.12:118986608:GAA:GAAGGAA
Gene:: MARCO (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAAGGAA=0./0 (ALFA)
GAAG=0.00005/1 (GnomAD)
GAAG=0.00065/12 (TOMMO)
HGVS:: NC_000002.12:g.118986611_118986612insGGAA, NC_000002.11:g.119744187_119744188insGGAA

Select item 14911955039.

rs1491195503 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:118960967 (GRCh38)
2:119718543 (GRCh37)
Canonical SPDI:: NC_000002.12:118960964:CACA:CA
Gene:: MARCO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CACA=0.0414/185 (ALFA)
-=0.0415/186 (Estonian)
HGVS:: NC_000002.12:g.118960965CA[1], NC_000002.11:g.119718541CA[1]

Select item 149112192810.

rs1491121928 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:118986698 (GRCh38)
2:119744275 (GRCh37)
Canonical SPDI:: NC_000002.12:118986698::G
Gene:: MARCO (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.118986698_118986699insG, NC_000002.11:g.119744274_119744275insG

Select item 149103441411.

rs1491034414 has merged into rs35141497 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 2:118964901 (GRCh38)
2:119722477 (GRCh37)
Canonical SPDI:: NC_000002.12:118964887:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:118964887:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:118964887:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:118964887:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:118964887:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:118964887:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:118964887:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: MARCO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.497/2489 (1000Genomes)
HGVS:: NC_000002.12:g.118964901_118964903del, NC_000002.12:g.118964902_118964903del, NC_000002.12:g.118964903del, NC_000002.12:g.118964903dup, NC_000002.12:g.118964902_118964903dup, NC_000002.12:g.118964901_118964903dup, NC_000002.12:g.118964900_118964903dup, NC_000002.11:g.119722477_119722479del, NC_000002.11:g.119722478_119722479del, NC_000002.11:g.119722479del, NC_000002.11:g.119722479dup, NC_000002.11:g.119722478_119722479dup, NC_000002.11:g.119722477_119722479dup, NC_000002.11:g.119722476_119722479dup

Select item 149100974212.

rs1491009742 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 2:118945424 (GRCh38)
2:119703000 (GRCh37)
Canonical SPDI:: NC_000002.12:118945422:TCT:T
Gene:: MARCO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00692/113 (ALFA)
-=0.00238/40 (TOMMO)
HGVS:: NC_000002.12:g.118945424_118945425del, NC_000002.11:g.119703000_119703001del

Select item 149100511613.

rs1491005116 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 2:118945703 (GRCh38)
2:119703279 (GRCh37)
Canonical SPDI:: NC_000002.12:118945702:TA:
Gene:: MARCO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.003803/17 (ALFA)
-=0.000546/1 (Korea1K)
-=0.001718/11 (1000Genomes)
-=0.002632/369 (GnomAD)
-=0.003795/17 (Estonian)
HGVS:: NC_000002.12:g.118945703_118945704del, NC_000002.11:g.119703279_119703280del

Select item 149100350014.

rs1491003500 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:118983122 (GRCh38)
2:119740698 (GRCh37)
Canonical SPDI:: NC_000002.12:118983121:T:C
Gene:: MARCO (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.118983122T>C, NC_000002.11:g.119740698T>C

Select item 149097372715.

rs1490973727 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:118985682 (GRCh38)
2:119743258 (GRCh37)
Canonical SPDI:: NC_000002.12:118985681:G:A
Gene:: MARCO (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000319/5 (TOMMO)
HGVS:: NC_000002.12:g.118985682G>A, NC_000002.11:g.119743258G>A

Select item 149095295616.

rs1490952956 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 2:118981030 (GRCh38)
2:119738606 (GRCh37)
Canonical SPDI:: NC_000002.12:118981029:T:A
Gene:: MARCO (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.118981030T>A, NC_000002.11:g.119738606T>A

Select item 149091937417.

rs1490919374 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:118950244 (GRCh38)
2:119707820 (GRCh37)
Canonical SPDI:: NC_000002.12:118950243:C:T
Gene:: MARCO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.118950244C>T, NC_000002.11:g.119707820C>T

Select item 149089311518.

rs1490893115 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 2:118947990 (GRCh38)
2:119705566 (GRCh37)
Canonical SPDI:: NC_000002.12:118947989:TTT:TT
Gene:: MARCO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0.00009/1 (ALFA)
HGVS:: NC_000002.12:g.118947992del, NC_000002.11:g.119705568del

Select item 149086255719.

rs1490862557 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:118949630 (GRCh38)
2:119707206 (GRCh37)
Canonical SPDI:: NC_000002.12:118949629:T:C
Gene:: MARCO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.118949630T>C, NC_000002.11:g.119707206T>C

Select item 149074416320.

rs1490744163 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 2:118956680 (GRCh38)
2:119714256 (GRCh37)
Canonical SPDI:: NC_000002.12:118956679:AAA:AA
Gene:: MARCO (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000002.12:g.118956682del, NC_000002.11:g.119714258del

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