SNP Links for Nucleotide (Select 1198817822) - SNP

Links from Nucleotide

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 14915305811.

rs1491530581 has merged into rs144988599 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAAACAAACAAA>-,CAAA,CAAACAAA,CAAACAAACAAACAAA,CAAACAAACAAACAAACAAA,CAAACAAACAAACAAACAAACAAA [Show Flanks]
Chromosome:: 8:22403931 (GRCh38)
8:22261444 (GRCh37)
Canonical SPDI:: NC_000008.11:22403915:AAACAAACAAACAAACAAACAAACAAA:AAACAAACAAACAAA,NC_000008.11:22403915:AAACAAACAAACAAACAAACAAACAAA:AAACAAACAAACAAACAAA,NC_000008.11:22403915:AAACAAACAAACAAACAAACAAACAAA:AAACAAACAAACAAACAAACAAA,NC_000008.11:22403915:AAACAAACAAACAAACAAACAAACAAA:AAACAAACAAACAAACAAACAAACAAACAAA,NC_000008.11:22403915:AAACAAACAAACAAACAAACAAACAAA:AAACAAACAAACAAACAAACAAACAAACAAACAAA,NC_000008.11:22403915:AAACAAACAAACAAACAAACAAACAAA:AAACAAACAAACAAACAAACAAACAAACAAACAAACAAA
Gene:: SLC39A14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAACAAACAAACAAACAAA=0./0 (ALFA)
AAACAAACAAAC=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.22403919CAAA[3], NC_000008.11:g.22403919CAAA[4], NC_000008.11:g.22403919CAAA[5], NC_000008.11:g.22403919CAAA[7], NC_000008.11:g.22403919CAAA[8], NC_000008.11:g.22403919CAAA[9], NC_000008.10:g.22261432CAAA[3], NC_000008.10:g.22261432CAAA[4], NC_000008.10:g.22261432CAAA[5], NC_000008.10:g.22261432CAAA[7], NC_000008.10:g.22261432CAAA[8], NC_000008.10:g.22261432CAAA[9], NG_054890.1:g.41671CAAA[3], NG_054890.1:g.41671CAAA[4], NG_054890.1:g.41671CAAA[5], NG_054890.1:g.41671CAAA[7], NG_054890.1:g.41671CAAA[8], NG_054890.1:g.41671CAAA[9]

Select item 14915023442.

rs1491502344 has merged into rs36047355 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:22365411 (GRCh38)
8:22222924 (GRCh37)
Canonical SPDI:: NC_000008.11:22365400:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:22365400:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:22365400:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:22365400:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:22365400:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:22365400:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:22365400:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:22365400:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:22365400:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:22365400:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22365400:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22365400:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22365400:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22365400:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22365400:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22365400:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:22365400:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SLC39A14 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.325/13 (GENOME_DK)
HGVS:: NC_000008.11:g.22365411_22365422del, NC_000008.11:g.22365413_22365422del, NC_000008.11:g.22365414_22365422del, NC_000008.11:g.22365415_22365422del, NC_000008.11:g.22365416_22365422del, NC_000008.11:g.22365418_22365422del, NC_000008.11:g.22365419_22365422del, NC_000008.11:g.22365420_22365422del, NC_000008.11:g.22365421_22365422del, NC_000008.11:g.22365422del, NC_000008.11:g.22365422dup, NC_000008.11:g.22365421_22365422dup, NC_000008.11:g.22365420_22365422dup, NC_000008.11:g.22365419_22365422dup, NC_000008.11:g.22365418_22365422dup, NC_000008.11:g.22365417_22365422dup, NC_000008.11:g.22365415_22365422dup, NC_000008.10:g.22222924_22222935del, NC_000008.10:g.22222926_22222935del, NC_000008.10:g.22222927_22222935del, NC_000008.10:g.22222928_22222935del, NC_000008.10:g.22222929_22222935del, NC_000008.10:g.22222931_22222935del, NC_000008.10:g.22222932_22222935del, NC_000008.10:g.22222933_22222935del, NC_000008.10:g.22222934_22222935del, NC_000008.10:g.22222935del, NC_000008.10:g.22222935dup, NC_000008.10:g.22222934_22222935dup, NC_000008.10:g.22222933_22222935dup, NC_000008.10:g.22222932_22222935dup, NC_000008.10:g.22222931_22222935dup, NC_000008.10:g.22222930_22222935dup, NC_000008.10:g.22222928_22222935dup, NG_054890.1:g.3163_3174del, NG_054890.1:g.3165_3174del, NG_054890.1:g.3166_3174del, NG_054890.1:g.3167_3174del, NG_054890.1:g.3168_3174del, NG_054890.1:g.3170_3174del, NG_054890.1:g.3171_3174del, NG_054890.1:g.3172_3174del, NG_054890.1:g.3173_3174del, NG_054890.1:g.3174del, NG_054890.1:g.3174dup, NG_054890.1:g.3173_3174dup, NG_054890.1:g.3172_3174dup, NG_054890.1:g.3171_3174dup, NG_054890.1:g.3170_3174dup, NG_054890.1:g.3169_3174dup, NG_054890.1:g.3167_3174dup

Select item 14914205803.

rs1491420580 has merged into rs67116858 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 8:22374748 (GRCh38)
8:22232261 (GRCh37)
Canonical SPDI:: NC_000008.11:22374740:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000008.11:22374740:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:22374740:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:22374740:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:22374740:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:22374740:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:22374740:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:22374740:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:22374740:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:22374740:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:22374740:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:22374740:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22374740:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22374740:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22374740:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22374740:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22374740:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22374740:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22374740:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22374740:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22374740:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22374740:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SLC39A14 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.010982/55 (1000Genomes)
TTTTTTT=0.013937/8 (NorthernSweden)
HGVS:: NC_000008.11:g.22374748_22374763del, NC_000008.11:g.22374751_22374763del, NC_000008.11:g.22374752_22374763del, NC_000008.11:g.22374754_22374763del, NC_000008.11:g.22374755_22374763del, NC_000008.11:g.22374756_22374763del, NC_000008.11:g.22374757_22374763del, NC_000008.11:g.22374758_22374763del, NC_000008.11:g.22374759_22374763del, NC_000008.11:g.22374760_22374763del, NC_000008.11:g.22374761_22374763del, NC_000008.11:g.22374762_22374763del, NC_000008.11:g.22374763del, NC_000008.11:g.22374763dup, NC_000008.11:g.22374762_22374763dup, NC_000008.11:g.22374761_22374763dup, NC_000008.11:g.22374760_22374763dup, NC_000008.11:g.22374759_22374763dup, NC_000008.11:g.22374758_22374763dup, NC_000008.11:g.22374757_22374763dup, NC_000008.11:g.22374756_22374763dup, NC_000008.11:g.22374753_22374763dup, NC_000008.10:g.22232261_22232276del, NC_000008.10:g.22232264_22232276del, NC_000008.10:g.22232265_22232276del, NC_000008.10:g.22232267_22232276del, NC_000008.10:g.22232268_22232276del, NC_000008.10:g.22232269_22232276del, NC_000008.10:g.22232270_22232276del, NC_000008.10:g.22232271_22232276del, NC_000008.10:g.22232272_22232276del, NC_000008.10:g.22232273_22232276del, NC_000008.10:g.22232274_22232276del, NC_000008.10:g.22232275_22232276del, NC_000008.10:g.22232276del, NC_000008.10:g.22232276dup, NC_000008.10:g.22232275_22232276dup, NC_000008.10:g.22232274_22232276dup, NC_000008.10:g.22232273_22232276dup, NC_000008.10:g.22232272_22232276dup, NC_000008.10:g.22232271_22232276dup, NC_000008.10:g.22232270_22232276dup, NC_000008.10:g.22232269_22232276dup, NC_000008.10:g.22232266_22232276dup, NG_054890.1:g.12500_12515del, NG_054890.1:g.12503_12515del, NG_054890.1:g.12504_12515del, NG_054890.1:g.12506_12515del, NG_054890.1:g.12507_12515del, NG_054890.1:g.12508_12515del, NG_054890.1:g.12509_12515del, NG_054890.1:g.12510_12515del, NG_054890.1:g.12511_12515del, NG_054890.1:g.12512_12515del, NG_054890.1:g.12513_12515del, NG_054890.1:g.12514_12515del, NG_054890.1:g.12515del, NG_054890.1:g.12515dup, NG_054890.1:g.12514_12515dup, NG_054890.1:g.12513_12515dup, NG_054890.1:g.12512_12515dup, NG_054890.1:g.12511_12515dup, NG_054890.1:g.12510_12515dup, NG_054890.1:g.12509_12515dup, NG_054890.1:g.12508_12515dup, NG_054890.1:g.12505_12515dup

Select item 14914053814.

rs1491405381 [Homo sapiens]

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

Select item 14912556435.

rs1491255643 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 8:22425028 (GRCh38)
8:22282541 (GRCh37)
Canonical SPDI:: NC_000008.11:22425027:CA:
Gene:: SLC39A14 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00051/6 (ALFA)
HGVS:: NC_000008.11:g.22425028_22425029del, NC_000008.10:g.22282541_22282542del, NG_054890.1:g.62780_62781del

Select item 14912230376.

rs1491223037 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 8:22396601 (GRCh38)
8:22254114 (GRCh37)
Canonical SPDI:: NC_000008.11:22396599:AGA:A
Gene:: SLC39A14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000084/1 (ALFA)
-=0.000019/5 (TOPMED)
HGVS:: NC_000008.11:g.22396601_22396602del, NC_000008.10:g.22254114_22254115del, NG_054890.1:g.34353_34354del

Select item 14911845327.

rs1491184532 [Homo sapiens]

Variant type:: INS
Alleles:: ->CAA [Show Flanks]
Chromosome:: 8:22425028 (GRCh38)
8:22282542 (GRCh37)
Canonical SPDI:: NC_000008.11:22425028::CAA
Gene:: SLC39A14 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CAA=0./0 (ALFA)
CAA=0.00001/1 (GnomAD)
HGVS:: NC_000008.11:g.22425028_22425029insCAA, NC_000008.10:g.22282541_22282542insCAA, NG_054890.1:g.62780_62781insCAA

Select item 14911611768.

rs1491161176 has merged into rs754943496 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,A,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 8:22402779 (GRCh38)
8:22260292 (GRCh37)
Canonical SPDI:: NC_000008.11:22402768:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000008.11:22402768:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:22402768:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:22402768:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:22402768:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:22402768:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000008.11:22402768:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: SLC39A14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.125/5 (GENOME_DK)
HGVS:: NC_000008.11:g.22402779_22402786del, NC_000008.11:g.22402780_22402786del, NC_000008.11:g.22402784_22402786del, NC_000008.11:g.22402785_22402786del, NC_000008.11:g.22402786del, NC_000008.11:g.22402786dup, NC_000008.11:g.22402785_22402786dup, NC_000008.10:g.22260292_22260299del, NC_000008.10:g.22260293_22260299del, NC_000008.10:g.22260297_22260299del, NC_000008.10:g.22260298_22260299del, NC_000008.10:g.22260299del, NC_000008.10:g.22260299dup, NC_000008.10:g.22260298_22260299dup, NG_054890.1:g.40531_40538del, NG_054890.1:g.40532_40538del, NG_054890.1:g.40536_40538del, NG_054890.1:g.40537_40538del, NG_054890.1:g.40538del, NG_054890.1:g.40538dup, NG_054890.1:g.40537_40538dup

Select item 14911268209.

rs1491126820 has merged into rs11332395 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 8:22373273 (GRCh38)
8:22230786 (GRCh37)
Canonical SPDI:: NC_000008.11:22373261:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:22373261:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:22373261:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:22373261:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:22373261:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:22373261:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:22373261:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: SLC39A14 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.3806/1906 (1000Genomes)
-=0.4665/1798 (ALSPAC)
-=0.4668/267 (NorthernSweden)
-=0.4733/1755 (TWINSUK)
-=0.475/19 (GENOME_DK)
HGVS:: NC_000008.11:g.22373273_22373276del, NC_000008.11:g.22373274_22373276del, NC_000008.11:g.22373275_22373276del, NC_000008.11:g.22373276del, NC_000008.11:g.22373276dup, NC_000008.11:g.22373275_22373276dup, NC_000008.11:g.22373270_22373276dup, NC_000008.10:g.22230786_22230789del, NC_000008.10:g.22230787_22230789del, NC_000008.10:g.22230788_22230789del, NC_000008.10:g.22230789del, NC_000008.10:g.22230789dup, NC_000008.10:g.22230788_22230789dup, NC_000008.10:g.22230783_22230789dup, NG_054890.1:g.11025_11028del, NG_054890.1:g.11026_11028del, NG_054890.1:g.11027_11028del, NG_054890.1:g.11028del, NG_054890.1:g.11028dup, NG_054890.1:g.11027_11028dup, NG_054890.1:g.11022_11028dup

Select item 149108674410.

rs1491086744 has merged into rs59846887 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 8:22428451 (GRCh38)
8:22285964 (GRCh37)
Canonical SPDI:: NC_000008.11:22428441:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000008.11:22428441:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:22428441:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:22428441:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:22428441:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:22428441:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:22428441:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:22428441:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:22428441:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:22428441:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22428441:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22428441:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22428441:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22428441:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22428441:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22428441:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22428441:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22428441:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22428441:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SLC39A14 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000008.11:g.22428451_22428460del, NC_000008.11:g.22428454_22428460del, NC_000008.11:g.22428455_22428460del, NC_000008.11:g.22428456_22428460del, NC_000008.11:g.22428457_22428460del, NC_000008.11:g.22428458_22428460del, NC_000008.11:g.22428459_22428460del, NC_000008.11:g.22428460del, NC_000008.11:g.22428460dup, NC_000008.11:g.22428459_22428460dup, NC_000008.11:g.22428458_22428460dup, NC_000008.11:g.22428457_22428460dup, NC_000008.11:g.22428456_22428460dup, NC_000008.11:g.22428455_22428460dup, NC_000008.11:g.22428454_22428460dup, NC_000008.11:g.22428453_22428460dup, NC_000008.11:g.22428452_22428460dup, NC_000008.11:g.22428451_22428460dup, NC_000008.11:g.22428447_22428460dup, NC_000008.10:g.22285964_22285973del, NC_000008.10:g.22285967_22285973del, NC_000008.10:g.22285968_22285973del, NC_000008.10:g.22285969_22285973del, NC_000008.10:g.22285970_22285973del, NC_000008.10:g.22285971_22285973del, NC_000008.10:g.22285972_22285973del, NC_000008.10:g.22285973del, NC_000008.10:g.22285973dup, NC_000008.10:g.22285972_22285973dup, NC_000008.10:g.22285971_22285973dup, NC_000008.10:g.22285970_22285973dup, NC_000008.10:g.22285969_22285973dup, NC_000008.10:g.22285968_22285973dup, NC_000008.10:g.22285967_22285973dup, NC_000008.10:g.22285966_22285973dup, NC_000008.10:g.22285965_22285973dup, NC_000008.10:g.22285964_22285973dup, NC_000008.10:g.22285960_22285973dup, NG_054890.1:g.66203_66212del, NG_054890.1:g.66206_66212del, NG_054890.1:g.66207_66212del, NG_054890.1:g.66208_66212del, NG_054890.1:g.66209_66212del, NG_054890.1:g.66210_66212del, NG_054890.1:g.66211_66212del, NG_054890.1:g.66212del, NG_054890.1:g.66212dup, NG_054890.1:g.66211_66212dup, NG_054890.1:g.66210_66212dup, NG_054890.1:g.66209_66212dup, NG_054890.1:g.66208_66212dup, NG_054890.1:g.66207_66212dup, NG_054890.1:g.66206_66212dup, NG_054890.1:g.66205_66212dup, NG_054890.1:g.66204_66212dup, NG_054890.1:g.66203_66212dup, NG_054890.1:g.66199_66212dup

Select item 149108645511.

rs1491086455 has merged into rs34521121 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 8:22425547 (GRCh38)
8:22283060 (GRCh37)
Canonical SPDI:: NC_000008.11:22425534:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:22425534:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:22425534:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:22425534:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:22425534:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:22425534:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: SLC39A14 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
T=0.2774/162 (NorthernSweden)
T=0.325/13 (GENOME_DK)
T=0.3428/1271 (TWINSUK)
T=0.3428/1321 (ALSPAC)
-=0.4645/2326 (1000Genomes)
HGVS:: NC_000008.11:g.22425547_22425548del, NC_000008.11:g.22425548del, NC_000008.11:g.22425548dup, NC_000008.11:g.22425547_22425548dup, NC_000008.11:g.22425546_22425548dup, NC_000008.11:g.22425545_22425548dup, NC_000008.10:g.22283060_22283061del, NC_000008.10:g.22283061del, NC_000008.10:g.22283061dup, NC_000008.10:g.22283060_22283061dup, NC_000008.10:g.22283059_22283061dup, NC_000008.10:g.22283058_22283061dup, NG_054890.1:g.63299_63300del, NG_054890.1:g.63300del, NG_054890.1:g.63300dup, NG_054890.1:g.63299_63300dup, NG_054890.1:g.63298_63300dup, NG_054890.1:g.63297_63300dup

Select item 149108018112.

rs1491080181 has merged into rs869297545 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 8:22409387 (GRCh38)
8:22266900 (GRCh37)
Canonical SPDI:: NC_000008.11:22409385:TGT:T
Gene:: SLC39A14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
-=0.000038/5 (GnomAD)
-=0.00039/6 (TOMMO)
HGVS:: NC_000008.11:g.22409387_22409388del, NC_000008.10:g.22266900_22266901del, NG_054890.1:g.47139_47140del

Select item 149107892213.

rs1491078922 has merged into rs71906239 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 8:22434602 (GRCh38)
8:22292115 (GRCh37)
Canonical SPDI:: NC_000008.11:22434592:TTTTTTTTTTTTT:TTTTTTTTT,NC_000008.11:22434592:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:22434592:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:22434592:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:22434592:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:22434592:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:22434592:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:22434592:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22434592:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22434592:TTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SLC39A14 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.125/5 (GENOME_DK)
HGVS:: NC_000008.11:g.22434602_22434605del, NC_000008.11:g.22434603_22434605del, NC_000008.11:g.22434604_22434605del, NC_000008.11:g.22434605del, NC_000008.11:g.22434605dup, NC_000008.11:g.22434604_22434605dup, NC_000008.11:g.22434603_22434605dup, NC_000008.11:g.22434595_22434605dup, NC_000008.11:g.22434593_22434605dup, NC_000008.11:g.22434605_22434606insTTTTTTTTTTTTTTT, NC_000008.10:g.22292115_22292118del, NC_000008.10:g.22292116_22292118del, NC_000008.10:g.22292117_22292118del, NC_000008.10:g.22292118del, NC_000008.10:g.22292118dup, NC_000008.10:g.22292117_22292118dup, NC_000008.10:g.22292116_22292118dup, NC_000008.10:g.22292108_22292118dup, NC_000008.10:g.22292106_22292118dup, NC_000008.10:g.22292118_22292119insTTTTTTTTTTTTTTT, NG_054890.1:g.72354_72357del, NG_054890.1:g.72355_72357del, NG_054890.1:g.72356_72357del, NG_054890.1:g.72357del, NG_054890.1:g.72357dup, NG_054890.1:g.72356_72357dup, NG_054890.1:g.72355_72357dup, NG_054890.1:g.72347_72357dup, NG_054890.1:g.72345_72357dup, NG_054890.1:g.72357_72358insTTTTTTTTTTTTTTT, NG_043958.1:g.307_308insTTTTTTTT, NG_043958.1:g.304_307dup, NG_043958.1:g.303_307dup, NG_043958.1:g.307_308insTTTTTT, NG_043958.1:g.307_308insTTTTTTT, NG_043958.1:g.307_308insTTTTTTTTT, NG_043958.1:g.307_308insTTTTTTTTTT, NG_043958.1:g.307_308insTTTTTTTTTTT, NG_043958.1:g.307_308insTTTTTTTTTTTTTTTTTTT, NG_043958.1:g.307_308insTTTTTTTTTTTTTTTTTTTTT, NG_043958.1:g.307_308insTTTTTTTTTTTTTTTTTTTTTTT

Select item 149105609814.

rs1491056098 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 8:22432818 (GRCh38)
8:22290331 (GRCh37)
Canonical SPDI:: NC_000008.11:22432816:TGT:T
Gene:: SLC39A14 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000491/8 (ALFA)
-=0.001235/126 (GnomAD)
-=0.004936/78 (TOMMO)
-=0.062084/112 (Korea1K)
HGVS:: NC_000008.11:g.22432818_22432819del, NC_000008.10:g.22290331_22290332del, NG_054890.1:g.70570_70571del

Select item 149104554115.

rs1491045541 has merged into rs34995511 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 8:22419036 (GRCh38)
8:22276549 (GRCh37)
Canonical SPDI:: NC_000008.11:22419027:AAAAAAAAAA:AAAAAAAA,NC_000008.11:22419027:AAAAAAAAAA:AAAAAAAAA,NC_000008.11:22419027:AAAAAAAAAA:AAAAAAAAAAA,NC_000008.11:22419027:AAAAAAAAAA:AAAAAAAAAAAA
Gene:: SLC39A14 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
A=0.3/12 (GENOME_DK)
A=0.35086/1301 (TWINSUK)
A=0.35677/1375 (ALSPAC)
-=0.40118/6723 (TOMMO)
A=0.40272/2017 (1000Genomes)
A=0.40833/245 (NorthernSweden)
A=0.41082/410 (GoNL)
HGVS:: NC_000008.11:g.22419036_22419037del, NC_000008.11:g.22419037del, NC_000008.11:g.22419037dup, NC_000008.11:g.22419036_22419037dup, NC_000008.10:g.22276549_22276550del, NC_000008.10:g.22276550del, NC_000008.10:g.22276550dup, NC_000008.10:g.22276549_22276550dup, NG_054890.1:g.56788_56789del, NG_054890.1:g.56789del, NG_054890.1:g.56789dup, NG_054890.1:g.56788_56789dup

Select item 149102529016.

rs1491025290 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 8:22432647 (GRCh38)
8:22290161 (GRCh37)
Canonical SPDI:: NC_000008.11:22432647::A
Gene:: SLC39A14 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000064/1 (GnomAD)
HGVS:: NC_000008.11:g.22432647_22432648insA, NC_000008.10:g.22290160_22290161insA, NG_054890.1:g.70399_70400insA

Select item 149097063317.

rs1490970633 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 8:22426869 (GRCh38)
8:22284382 (GRCh37)
Canonical SPDI:: NC_000008.11:22426868:A:G,NC_000008.11:22426868:A:T
Gene:: SLC39A14 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000008.11:g.22426869A>G, NC_000008.11:g.22426869A>T, NC_000008.10:g.22284382A>G, NC_000008.10:g.22284382A>T, NG_054890.1:g.64621A>G, NG_054890.1:g.64621A>T

Select item 149094585218.

rs1490945852 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:22399504 (GRCh38)
8:22257017 (GRCh37)
Canonical SPDI:: NC_000008.11:22399503:T:C
Gene:: SLC39A14 (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_000008.11:g.22399504T>C, NC_000008.10:g.22257017T>C, NG_054890.1:g.37256T>C

Select item 149087016319.

rs1490870163 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 8:22386266 (GRCh38)
8:22243779 (GRCh37)
Canonical SPDI:: NC_000008.11:22386265:A:C
Gene:: SLC39A14 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.0318/93 (KOREAN)
HGVS:: NC_000008.11:g.22386266A>C, NC_000008.10:g.22243779A>C, NG_054890.1:g.24018A>C

Select item 149084479720.

rs1490844797 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:22372850 (GRCh38)
8:22230363 (GRCh37)
Canonical SPDI:: NC_000008.11:22372849:A:G
Gene:: SLC39A14 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.22372850A>G, NC_000008.10:g.22230363A>G, NG_054890.1:g.10602A>G

<< First< Prev

Page of 50

Next >Last >>

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Nucleotide

Items: 1 to 20 of 1000

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity