SNP Links for Gene (Select 85444) - SNP

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Select item 14914681091.

rs1491468109 has merged into rs10647086 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATATA>-,TATATA,TATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA [Show Flanks]
Chromosome:: 8:85145126 (GRCh38)
8:86057361 (GRCh37)
Canonical SPDI:: NC_000008.11:85145117:TATATATATATATATATA:TATATATA,NC_000008.11:85145117:TATATATATATATATATA:TATATATATATATA,NC_000008.11:85145117:TATATATATATATATATA:TATATATATATATATA,NC_000008.11:85145117:TATATATATATATATATA:TATATATATATATATATATA,NC_000008.11:85145117:TATATATATATATATATA:TATATATATATATATATATATA,NC_000008.11:85145117:TATATATATATATATATA:TATATATATATATATATATATATA,NC_000008.11:85145117:TATATATATATATATATA:TATATATATATATATATATATATATA,NC_000008.11:85145117:TATATATATATATATATA:TATATATATATATATATATATATATATA,NC_000008.11:85145117:TATATATATATATATATA:TATATATATATATATATATATATATATATA,NC_000008.11:85145117:TATATATATATATATATA:TATATATATATATATATATATATATATATATA,NC_000008.11:85145117:TATATATATATATATATA:TATATATATATATATATATATATATATATATATA,NC_000008.11:85145117:TATATATATATATATATA:TATATATATATATATATATATATATATATATATATA,NC_000008.11:85145117:TATATATATATATATATA:TATATATATATATATATATATATATATATATATATATA
Gene:: LRRCC1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATA=0./0 (ALFA)
HGVS:: NC_000008.11:g.85145118TA[4], NC_000008.11:g.85145118TA[7], NC_000008.11:g.85145118TA[8], NC_000008.11:g.85145118TA[10], NC_000008.11:g.85145118TA[11], NC_000008.11:g.85145118TA[12], NC_000008.11:g.85145118TA[13], NC_000008.11:g.85145118TA[14], NC_000008.11:g.85145118TA[15], NC_000008.11:g.85145118TA[16], NC_000008.11:g.85145118TA[17], NC_000008.11:g.85145118TA[18], NC_000008.11:g.85145118TA[19], NC_000008.10:g.86057353TA[4], NC_000008.10:g.86057353TA[7], NC_000008.10:g.86057353TA[8], NC_000008.10:g.86057353TA[10], NC_000008.10:g.86057353TA[11], NC_000008.10:g.86057353TA[12], NC_000008.10:g.86057353TA[13], NC_000008.10:g.86057353TA[14], NC_000008.10:g.86057353TA[15], NC_000008.10:g.86057353TA[16], NC_000008.10:g.86057353TA[17], NC_000008.10:g.86057353TA[18], NC_000008.10:g.86057353TA[19], NG_053066.1:g.43031TA[4], NG_053066.1:g.43031TA[7], NG_053066.1:g.43031TA[8], NG_053066.1:g.43031TA[10], NG_053066.1:g.43031TA[11], NG_053066.1:g.43031TA[12], NG_053066.1:g.43031TA[13], NG_053066.1:g.43031TA[14], NG_053066.1:g.43031TA[15], NG_053066.1:g.43031TA[16], NG_053066.1:g.43031TA[17], NG_053066.1:g.43031TA[18], NG_053066.1:g.43031TA[19]

Select item 14914299752.

rs1491429975 has merged into rs56095819 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 8:85144481 (GRCh38)
8:86056716 (GRCh37)
Canonical SPDI:: NC_000008.11:85144474:TTTTTTTTTTTTTT:TTTTTT,NC_000008.11:85144474:TTTTTTTTTTTTTT:TTTTTTTT,NC_000008.11:85144474:TTTTTTTTTTTTTT:TTTTTTTTT,NC_000008.11:85144474:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:85144474:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:85144474:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:85144474:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:85144474:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:85144474:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:85144474:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:85144474:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:85144474:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT
Gene:: LRRCC1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
-=0.0324/19 (NorthernSweden)
-=0.1054/184 (Korea1K)
HGVS:: NC_000008.11:g.85144481_85144488del, NC_000008.11:g.85144483_85144488del, NC_000008.11:g.85144484_85144488del, NC_000008.11:g.85144485_85144488del, NC_000008.11:g.85144486_85144488del, NC_000008.11:g.85144487_85144488del, NC_000008.11:g.85144488del, NC_000008.11:g.85144488dup, NC_000008.11:g.85144487_85144488dup, NC_000008.11:g.85144486_85144488dup, NC_000008.11:g.85144484_85144488dup, NC_000008.11:g.85144482_85144488dup, NC_000008.10:g.86056716_86056723del, NC_000008.10:g.86056718_86056723del, NC_000008.10:g.86056719_86056723del, NC_000008.10:g.86056720_86056723del, NC_000008.10:g.86056721_86056723del, NC_000008.10:g.86056722_86056723del, NC_000008.10:g.86056723del, NC_000008.10:g.86056723dup, NC_000008.10:g.86056722_86056723dup, NC_000008.10:g.86056721_86056723dup, NC_000008.10:g.86056719_86056723dup, NC_000008.10:g.86056717_86056723dup, NG_053066.1:g.42394_42401del, NG_053066.1:g.42396_42401del, NG_053066.1:g.42397_42401del, NG_053066.1:g.42398_42401del, NG_053066.1:g.42399_42401del, NG_053066.1:g.42400_42401del, NG_053066.1:g.42401del, NG_053066.1:g.42401dup, NG_053066.1:g.42400_42401dup, NG_053066.1:g.42399_42401dup, NG_053066.1:g.42397_42401dup, NG_053066.1:g.42395_42401dup

Select item 14914234373.

rs1491423437 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 8:85142848 (GRCh38)
8:86055083 (GRCh37)
Canonical SPDI:: NC_000008.11:85142846:AGA:A
Gene:: LRRCC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00048/35 (GnomAD)
-=0.00061/1 (Korea1K)
HGVS:: NC_000008.11:g.85142848_85142849del, NC_000008.10:g.86055083_86055084del, NG_053066.1:g.40761_40762del

Select item 14914041284.

rs1491404128 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA,ATATA,ATATATA,ATATATATATA,C [Show Flanks]
Chromosome:: 8:85144475 (GRCh38)
8:86056711 (GRCh37)
Canonical SPDI:: NC_000008.11:85144475::A,NC_000008.11:85144475::ATA,NC_000008.11:85144475::ATATA,NC_000008.11:85144475::ATATATA,NC_000008.11:85144475::ATATATATATA,NC_000008.11:85144475::C
Gene:: LRRCC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
A=0.09745/168 (Korea1K)
HGVS:: NC_000008.11:g.85144475_85144476insA, NC_000008.11:g.85144475_85144476insATA, NC_000008.11:g.85144475_85144476insATATA, NC_000008.11:g.85144475_85144476insATATATA, NC_000008.11:g.85144475_85144476insATATATATATA, NC_000008.11:g.85144475_85144476insC, NC_000008.10:g.86056710_86056711insA, NC_000008.10:g.86056710_86056711insATA, NC_000008.10:g.86056710_86056711insATATA, NC_000008.10:g.86056710_86056711insATATATA, NC_000008.10:g.86056710_86056711insATATATATATA, NC_000008.10:g.86056710_86056711insC, NG_053066.1:g.42388_42389insA, NG_053066.1:g.42388_42389insATA, NG_053066.1:g.42388_42389insATATA, NG_053066.1:g.42388_42389insATATATA, NG_053066.1:g.42388_42389insATATATATATA, NG_053066.1:g.42388_42389insC

Select item 14913490295.

rs1491349029 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 8:85144402 (GRCh38)
8:86056637 (GRCh37)
Canonical SPDI:: NC_000008.11:85144401:AT:
Gene:: LRRCC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00004/2 (GnomAD)
HGVS:: NC_000008.11:g.85144402_85144403del, NC_000008.10:g.86056637_86056638del, NG_053066.1:g.42315_42316del

Select item 14913302066.

rs1491330206 [Homo sapiens]

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

Select item 14913069837.

rs1491306983 [Homo sapiens]

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

Select item 14913044778.

rs1491304477 has merged into rs56280153 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 8:85144416 (GRCh38)
8:86056651 (GRCh37)
Canonical SPDI:: NC_000008.11:85144402:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000008.11:85144402:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000008.11:85144402:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000008.11:85144402:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000008.11:85144402:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000008.11:85144402:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:85144402:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:85144402:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:85144402:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000008.11:85144402:TGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: LRRCC1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
TGTGTGTGTG=0.3383/1694 (1000Genomes)
HGVS:: NC_000008.11:g.85144404GT[6], NC_000008.11:g.85144404GT[7], NC_000008.11:g.85144404GT[8], NC_000008.11:g.85144404GT[9], NC_000008.11:g.85144404GT[10], NC_000008.11:g.85144404GT[11], NC_000008.11:g.85144404GT[13], NC_000008.11:g.85144404GT[14], NC_000008.11:g.85144404GT[15], NC_000008.11:g.85144404GT[17], NC_000008.10:g.86056639GT[6], NC_000008.10:g.86056639GT[7], NC_000008.10:g.86056639GT[8], NC_000008.10:g.86056639GT[9], NC_000008.10:g.86056639GT[10], NC_000008.10:g.86056639GT[11], NC_000008.10:g.86056639GT[13], NC_000008.10:g.86056639GT[14], NC_000008.10:g.86056639GT[15], NC_000008.10:g.86056639GT[17], NG_053066.1:g.42317GT[6], NG_053066.1:g.42317GT[7], NG_053066.1:g.42317GT[8], NG_053066.1:g.42317GT[9], NG_053066.1:g.42317GT[10], NG_053066.1:g.42317GT[11], NG_053066.1:g.42317GT[13], NG_053066.1:g.42317GT[14], NG_053066.1:g.42317GT[15], NG_053066.1:g.42317GT[17]

Select item 14911650569.

rs1491165056 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 8:85142847 (GRCh38)
8:86055083 (GRCh37)
Canonical SPDI:: NC_000008.11:85142847:G:GG
Gene:: LRRCC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.00011/8 (GnomAD)
HGVS:: NC_000008.11:g.85142848dup, NC_000008.10:g.86055083dup, NG_053066.1:g.40761dup

Select item 149114300710.

rs1491143007 has merged into rs71273921 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 8:85125683 (GRCh38)
8:86037918 (GRCh37)
Canonical SPDI:: NC_000008.11:85125670:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000008.11:85125670:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000008.11:85125670:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000008.11:85125670:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000008.11:85125670:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000008.11:85125670:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000008.11:85125670:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000008.11:85125670:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000008.11:85125670:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000008.11:85125670:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:85125670:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:85125670:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:85125670:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:85125670:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:85125670:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:85125670:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:85125670:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:85125670:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:85125670:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:85125670:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000008.11:85125670:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LRRCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000008.11:g.85125683_85125689del, NC_000008.11:g.85125684_85125689del, NC_000008.11:g.85125685_85125689del, NC_000008.11:g.85125686_85125689del, NC_000008.11:g.85125687_85125689del, NC_000008.11:g.85125688_85125689del, NC_000008.11:g.85125689del, NC_000008.11:g.85125689dup, NC_000008.11:g.85125688_85125689dup, NC_000008.11:g.85125687_85125689dup, NC_000008.11:g.85125686_85125689dup, NC_000008.11:g.85125685_85125689dup, NC_000008.11:g.85125684_85125689dup, NC_000008.11:g.85125683_85125689dup, NC_000008.11:g.85125682_85125689dup, NC_000008.11:g.85125681_85125689dup, NC_000008.11:g.85125680_85125689dup, NC_000008.11:g.85125679_85125689dup, NC_000008.11:g.85125678_85125689dup, NC_000008.11:g.85125677_85125689dup, NC_000008.11:g.85125676_85125689dup, NC_000008.10:g.86037918_86037924del, NC_000008.10:g.86037919_86037924del, NC_000008.10:g.86037920_86037924del, NC_000008.10:g.86037921_86037924del, NC_000008.10:g.86037922_86037924del, NC_000008.10:g.86037923_86037924del, NC_000008.10:g.86037924del, NC_000008.10:g.86037924dup, NC_000008.10:g.86037923_86037924dup, NC_000008.10:g.86037922_86037924dup, NC_000008.10:g.86037921_86037924dup, NC_000008.10:g.86037920_86037924dup, NC_000008.10:g.86037919_86037924dup, NC_000008.10:g.86037918_86037924dup, NC_000008.10:g.86037917_86037924dup, NC_000008.10:g.86037916_86037924dup, NC_000008.10:g.86037915_86037924dup, NC_000008.10:g.86037914_86037924dup, NC_000008.10:g.86037913_86037924dup, NC_000008.10:g.86037912_86037924dup, NC_000008.10:g.86037911_86037924dup, NG_053066.1:g.23596_23602del, NG_053066.1:g.23597_23602del, NG_053066.1:g.23598_23602del, NG_053066.1:g.23599_23602del, NG_053066.1:g.23600_23602del, NG_053066.1:g.23601_23602del, NG_053066.1:g.23602del, NG_053066.1:g.23602dup, NG_053066.1:g.23601_23602dup, NG_053066.1:g.23600_23602dup, NG_053066.1:g.23599_23602dup, NG_053066.1:g.23598_23602dup, NG_053066.1:g.23597_23602dup, NG_053066.1:g.23596_23602dup, NG_053066.1:g.23595_23602dup, NG_053066.1:g.23594_23602dup, NG_053066.1:g.23593_23602dup, NG_053066.1:g.23592_23602dup, NG_053066.1:g.23591_23602dup, NG_053066.1:g.23590_23602dup, NG_053066.1:g.23589_23602dup

Select item 149110717511.

rs1491107175 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 8:85113566 (GRCh38)
8:86025801 (GRCh37)
Canonical SPDI:: NC_000008.11:85113565:AT:
Gene:: LRRCC1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000008.11:g.85113566_85113567del, NC_000008.10:g.86025801_86025802del, NG_053066.1:g.11479_11480del

Select item 149069404812.

rs1490694048 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:85113929 (GRCh38)
8:86026164 (GRCh37)
Canonical SPDI:: NC_000008.11:85113928:A:G
Gene:: LRRCC1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000026/7 (TOPMED)
HGVS:: NC_000008.11:g.85113929A>G, NC_000008.10:g.86026164A>G, NG_053066.1:g.11842A>G

Select item 149059037613.

rs1490590376 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:85124009 (GRCh38)
8:86036244 (GRCh37)
Canonical SPDI:: NC_000008.11:85124008:T:C
Gene:: LRRCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000008.11:g.85124009T>C, NC_000008.10:g.86036244T>C, NG_053066.1:g.21922T>C

Select item 149053568214.

rs1490535682 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 8:85135232 (GRCh38)
8:86047467 (GRCh37)
Canonical SPDI:: NC_000008.11:85135229:AAAA:AA
Gene:: LRRCC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0.000071/1 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000008.11:g.85135232_85135233del, NC_000008.10:g.86047467_86047468del, NG_053066.1:g.33145_33146del

Select item 149052910715.

rs1490529107 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 8:85142043 (GRCh38)
8:86054278 (GRCh37)
Canonical SPDI:: NC_000008.11:85142042:C:T
Gene:: LRRCC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000008.11:g.85142043C>T, NC_000008.10:g.86054278C>T, NG_053066.1:g.39956C>T

Select item 149049509316.

rs1490495093 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:85120142 (GRCh38)
8:86032377 (GRCh37)
Canonical SPDI:: NC_000008.11:85120141:G:T
Gene:: LRRCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000022/3 (GnomAD)
HGVS:: NC_000008.11:g.85120142G>T, NC_000008.10:g.86032377G>T, NG_053066.1:g.18055G>T

Select item 149043252317.

rs1490432523 has merged into rs551423793 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 8:85132386 (GRCh38)
8:86044621 (GRCh37)
Canonical SPDI:: NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:85132375:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LRRCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
TTTTTTTTTTT=0.0102/51 (1000Genomes)
HGVS:: NC_000008.11:g.85132386_85132403del, NC_000008.11:g.85132387_85132403del, NC_000008.11:g.85132388_85132403del, NC_000008.11:g.85132389_85132403del, NC_000008.11:g.85132390_85132403del, NC_000008.11:g.85132391_85132403del, NC_000008.11:g.85132392_85132403del, NC_000008.11:g.85132393_85132403del, NC_000008.11:g.85132394_85132403del, NC_000008.11:g.85132395_85132403del, NC_000008.11:g.85132396_85132403del, NC_000008.11:g.85132397_85132403del, NC_000008.11:g.85132398_85132403del, NC_000008.11:g.85132399_85132403del, NC_000008.11:g.85132400_85132403del, NC_000008.11:g.85132401_85132403del, NC_000008.11:g.85132402_85132403del, NC_000008.11:g.85132403del, NC_000008.11:g.85132403dup, NC_000008.11:g.85132402_85132403dup, NC_000008.11:g.85132401_85132403dup, NC_000008.11:g.85132400_85132403dup, NC_000008.11:g.85132399_85132403dup, NC_000008.11:g.85132398_85132403dup, NC_000008.11:g.85132397_85132403dup, NC_000008.11:g.85132396_85132403dup, NC_000008.11:g.85132395_85132403dup, NC_000008.11:g.85132394_85132403dup, NC_000008.11:g.85132393_85132403dup, NC_000008.11:g.85132392_85132403dup, NC_000008.11:g.85132391_85132403dup, NC_000008.11:g.85132390_85132403dup, NC_000008.11:g.85132389_85132403dup, NC_000008.11:g.85132388_85132403dup, NC_000008.11:g.85132387_85132403dup, NC_000008.11:g.85132386_85132403dup, NC_000008.11:g.85132385_85132403dup, NC_000008.11:g.85132384_85132403dup, NC_000008.11:g.85132383_85132403dup, NC_000008.11:g.85132382_85132403dup, NC_000008.11:g.85132381_85132403dup, NC_000008.11:g.85132380_85132403dup, NC_000008.11:g.85132379_85132403dup, NC_000008.11:g.85132378_85132403dup, NC_000008.11:g.85132403_85132404insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.85132403_85132404insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.85132403_85132404insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.85132403_85132404insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.85132403_85132404insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.85132403_85132404insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.85132403_85132404insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.86044621_86044638del, NC_000008.10:g.86044622_86044638del, NC_000008.10:g.86044623_86044638del, NC_000008.10:g.86044624_86044638del, NC_000008.10:g.86044625_86044638del, NC_000008.10:g.86044626_86044638del, NC_000008.10:g.86044627_86044638del, NC_000008.10:g.86044628_86044638del, NC_000008.10:g.86044629_86044638del, NC_000008.10:g.86044630_86044638del, NC_000008.10:g.86044631_86044638del, NC_000008.10:g.86044632_86044638del, NC_000008.10:g.86044633_86044638del, NC_000008.10:g.86044634_86044638del, NC_000008.10:g.86044635_86044638del, NC_000008.10:g.86044636_86044638del, NC_000008.10:g.86044637_86044638del, NC_000008.10:g.86044638del, NC_000008.10:g.86044638dup, NC_000008.10:g.86044637_86044638dup, NC_000008.10:g.86044636_86044638dup, NC_000008.10:g.86044635_86044638dup, NC_000008.10:g.86044634_86044638dup, NC_000008.10:g.86044633_86044638dup, NC_000008.10:g.86044632_86044638dup, NC_000008.10:g.86044631_86044638dup, NC_000008.10:g.86044630_86044638dup, NC_000008.10:g.86044629_86044638dup, NC_000008.10:g.86044628_86044638dup, NC_000008.10:g.86044627_86044638dup, NC_000008.10:g.86044626_86044638dup, NC_000008.10:g.86044625_86044638dup, NC_000008.10:g.86044624_86044638dup, NC_000008.10:g.86044623_86044638dup, NC_000008.10:g.86044622_86044638dup, NC_000008.10:g.86044621_86044638dup, NC_000008.10:g.86044620_86044638dup, NC_000008.10:g.86044619_86044638dup, NC_000008.10:g.86044618_86044638dup, NC_000008.10:g.86044617_86044638dup, NC_000008.10:g.86044616_86044638dup, NC_000008.10:g.86044615_86044638dup, NC_000008.10:g.86044614_86044638dup, NC_000008.10:g.86044613_86044638dup, NC_000008.10:g.86044638_86044639insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.86044638_86044639insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.86044638_86044639insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.86044638_86044639insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.86044638_86044639insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.86044638_86044639insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.86044638_86044639insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_053066.1:g.30299_30316del, NG_053066.1:g.30300_30316del, NG_053066.1:g.30301_30316del, NG_053066.1:g.30302_30316del, NG_053066.1:g.30303_30316del, NG_053066.1:g.30304_30316del, NG_053066.1:g.30305_30316del, NG_053066.1:g.30306_30316del, NG_053066.1:g.30307_30316del, NG_053066.1:g.30308_30316del, NG_053066.1:g.30309_30316del, NG_053066.1:g.30310_30316del, NG_053066.1:g.30311_30316del, NG_053066.1:g.30312_30316del, NG_053066.1:g.30313_30316del, NG_053066.1:g.30314_30316del, NG_053066.1:g.30315_30316del, NG_053066.1:g.30316del, NG_053066.1:g.30316dup, NG_053066.1:g.30315_30316dup, NG_053066.1:g.30314_30316dup, NG_053066.1:g.30313_30316dup, NG_053066.1:g.30312_30316dup, NG_053066.1:g.30311_30316dup, NG_053066.1:g.30310_30316dup, NG_053066.1:g.30309_30316dup, NG_053066.1:g.30308_30316dup, NG_053066.1:g.30307_30316dup, NG_053066.1:g.30306_30316dup, NG_053066.1:g.30305_30316dup, NG_053066.1:g.30304_30316dup, NG_053066.1:g.30303_30316dup, NG_053066.1:g.30302_30316dup, NG_053066.1:g.30301_30316dup, NG_053066.1:g.30300_30316dup, NG_053066.1:g.30299_30316dup, NG_053066.1:g.30298_30316dup, NG_053066.1:g.30297_30316dup, NG_053066.1:g.30296_30316dup, NG_053066.1:g.30295_30316dup, NG_053066.1:g.30294_30316dup, NG_053066.1:g.30293_30316dup, NG_053066.1:g.30292_30316dup, NG_053066.1:g.30291_30316dup, NG_053066.1:g.30316_30317insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_053066.1:g.30316_30317insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_053066.1:g.30316_30317insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_053066.1:g.30316_30317insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_053066.1:g.30316_30317insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_053066.1:g.30316_30317insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_053066.1:g.30316_30317insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149012711818.

rs1490127118 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 8:85122212 (GRCh38)
8:86034447 (GRCh37)
Canonical SPDI:: NC_000008.11:85122211:T:C
Gene:: LRRCC1 (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.85122212T>C, NC_000008.10:g.86034447T>C, NG_053066.1:g.20125T>C

Select item 149008294719.

rs1490082947 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 8:85142229 (GRCh38)
8:86054464 (GRCh37)
Canonical SPDI:: NC_000008.11:85142228:G:T
Gene:: LRRCC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
T=0.000342/1 (KOREAN)
HGVS:: NC_000008.11:g.85142229G>T, NC_000008.10:g.86054464G>T, NG_053066.1:g.40142G>T

Select item 149006852720.

rs1490068527 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 8:85139123 (GRCh38)
8:86051358 (GRCh37)
Canonical SPDI:: NC_000008.11:85139122:A:G
Gene:: LRRCC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,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_000008.11:g.85139123A>G, NC_000008.10:g.86051358A>G, NG_053066.1:g.37036A>G

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