SNP Links for Gene (Select 105369677) - SNP

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Select item 14915823711.

rs1491582371 has merged into rs1026644645 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTTT [Show Flanks]
Chromosome:: 12:16944252 (GRCh38)
12:17097186 (GRCh37)
Canonical SPDI:: NC_000012.12:16944250:TTT:T,NC_000012.12:16944250:TTT:TTTTT
Gene:: LOC105369677 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.16944252_16944253del, NC_000012.12:g.16944252_16944253dup, NC_000012.11:g.17097186_17097187del, NC_000012.11:g.17097186_17097187dup

Select item 14915642472.

rs1491564247 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 12:16908808 (GRCh38)
12:17061742 (GRCh37)
Canonical SPDI:: NC_000012.12:16908806:ACA:A
Gene:: LOC105369677 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000021/2 (GnomAD)
HGVS:: NC_000012.12:g.16908808_16908809del, NC_000012.11:g.17061742_17061743del

Select item 14915539273.

rs1491553927 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 12:16810110 (GRCh38)
12:16963045 (GRCh37)
Canonical SPDI:: NC_000012.12:16810110:T:TT
Gene:: LOC105369677 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.00037/17 (GnomAD)
HGVS:: NC_000012.12:g.16810111dup, NC_000012.11:g.16963045dup

Select item 14915447444.

rs1491544744 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 12:16810111 (GRCh38)
12:16963045 (GRCh37)
Canonical SPDI:: NC_000012.12:16810110:TA:
Gene:: LOC105369677 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00101/12 (ALFA)
HGVS:: NC_000012.12:g.16810111_16810112del, NC_000012.11:g.16963045_16963046del

Select item 14915431305.

rs1491543130 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 12:16857753 (GRCh38)
12:17010687 (GRCh37)
Canonical SPDI:: NC_000012.12:16857752:AT:
Gene:: LOC105369677 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.16857753_16857754del, NC_000012.11:g.17010687_17010688del

Select item 14915086206.

rs1491508620 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 12:16795224 (GRCh38)
12:16948158 (GRCh37)
Canonical SPDI:: NC_000012.12:16795223:GT:
Gene:: LOC105369677 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00009/8 (GnomAD)
HGVS:: NC_000012.12:g.16795224_16795225del, NC_000012.11:g.16948158_16948159del

Select item 14914847987.

rs1491484798 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 12:16813856 (GRCh38)
12:16966790 (GRCh37)
Canonical SPDI:: NC_000012.12:16813855:CC:
Gene:: LOC105369677 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.16813856_16813857del, NC_000012.11:g.16966790_16966791del

Select item 14914663468.

rs1491466346 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 12:16986735 (GRCh38)
12:17139669 (GRCh37)
Canonical SPDI:: NC_000012.12:16986734:AA:
Gene:: LOC105369677 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000506/6 (ALFA)
-=0.000106/2 (TOMMO)
-=0.000687/96 (GnomAD)
-=0.000873/231 (TOPMED)
-=0.001249/6 (1000Genomes)
HGVS:: NC_000012.12:g.16986735_16986736del, NC_000012.11:g.17139669_17139670del

Select item 14914498409.

rs1491449840 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 12:16847216 (GRCh38)
12:17000150 (GRCh37)
Canonical SPDI:: NC_000012.12:16847215:AA:
Gene:: LOC105369677 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.16847216_16847217del, NC_000012.11:g.17000150_17000151del

Select item 149143236910.

rs1491432369 has merged into rs1258879234 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 12:16795241 (GRCh38)
12:16948175 (GRCh37)
Canonical SPDI:: NC_000012.12:16795240:AAA:AA,NC_000012.12:16795240:AAA:AAAA
Gene:: LOC105369677 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.16795243del, NC_000012.12:g.16795243dup, NC_000012.11:g.16948177del, NC_000012.11:g.16948177dup

Select item 149140950111.

rs1491409501 has merged into rs113414672 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 12:16931943 (GRCh38)
12:17084877 (GRCh37)
Canonical SPDI:: NC_000012.12:16931931:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:16931931:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:16931931:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:16931931:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:16931931:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: LOC105369677 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.1/4 (GENOME_DK)
HGVS:: NC_000012.12:g.16931943_16931945del, NC_000012.12:g.16931944_16931945del, NC_000012.12:g.16931945del, NC_000012.12:g.16931945dup, NC_000012.12:g.16931944_16931945dup, NC_000012.11:g.17084877_17084879del, NC_000012.11:g.17084878_17084879del, NC_000012.11:g.17084879del, NC_000012.11:g.17084879dup, NC_000012.11:g.17084878_17084879dup

Select item 149135700012.

rs1491357000 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TAT,TATAAT,TATAATATATATATATATATATATATATATATAATAT,TATAT,TATATAAAATATATATATATATATATATATATAATAT,TATATAAT,TATATAATAT,TATATAATATATATAT,TATATAATATATATATATATATATATATATAATAT,TATATAATATATATATATATATATATATATATAATAT,TATATAATATATATATATATATATATATATATATAATAT,TATATAATATATATATATATATATATATATATTATAT,TATATAT,TATATATAAAATAT,TATATATAAT,TATATATAATAT,TATATATAATATAT,TATATATAATATATATATATAT,TATATATAATATATATATATATATATATATAAT,TATATATAATATATATATATATATATATATATAATAT,TATATATAATATATATATATATATATATATATATAATAT,TATATATAATATATATATATATATATATATATATATAAT,TATATATAATATATATATATATATATATATATATATAATAT,TATATATAT,TATATATATAAT,TATATATATAATAT,TATATATATAATATAT,TATATATATAATATATATATATATATATATATATATAATAT,TATATATATAATATATATATATATATATATATATATATAATAT,TATATATATAT,TATATATATATAAAATAT,TATATATATATAAT,TATATATATATAATAT,TATATATATATAATATAT,TATATATATATAATATATAT,TATATATATATAT,TATATATATATATAAT,TATATATATATATAATAT,TATATATATATATAATATAT,TATATATATATATAT,TATATATATATATATAAT,TATATATATATATATAATAT,TATATATATATATATAATATATATATATATAATAT,TATATATATATATATAT,TATATATATATATATATAATAT,TATATATATATATATATATAATAT,TATATATATATATATATATATAAT,TATATATATATATATATATATAATAT,TATATATATATATATATATATATATAAT,TATATATATATATATT,TATATATATATATATTAT,TATATATATATATT,TATATATATATT,TATATATT,TATATC,TATT [Show Flanks]
Chromosome:: 12:16847216 (GRCh38)
12:17000151 (GRCh37)
Canonical SPDI:: NC_000012.12:16847216::T,NC_000012.12:16847216::TAT,NC_000012.12:16847216::TATAAT,NC_000012.12:16847216::TATAATATATATATATATATATATATATATATAATAT,NC_000012.12:16847216::TATAT,NC_000012.12:16847216::TATATAAAATATATATATATATATATATATATAATAT,NC_000012.12:16847216::TATATAAT,NC_000012.12:16847216::TATATAATAT,NC_000012.12:16847216::TATATAATATATATAT,NC_000012.12:16847216::TATATAATATATATATATATATATATATATAATAT,NC_000012.12:16847216::TATATAATATATATATATATATATATATATATAATAT,NC_000012.12:16847216::TATATAATATATATATATATATATATATATATATAATAT,NC_000012.12:16847216::TATATAATATATATATATATATATATATATATTATAT,NC_000012.12:16847216::TATATAT,NC_000012.12:16847216::TATATATAAAATAT,NC_000012.12:16847216::TATATATAAT,NC_000012.12:16847216::TATATATAATAT,NC_000012.12:16847216::TATATATAATATAT,NC_000012.12:16847216::TATATATAATATATATATATAT,NC_000012.12:16847216::TATATATAATATATATATATATATATATATAAT,NC_000012.12:16847216::TATATATAATATATATATATATATATATATATAATAT,NC_000012.12:16847216::TATATATAATATATATATATATATATATATATATAATAT,NC_000012.12:16847216::TATATATAATATATATATATATATATATATATATATAAT,NC_000012.12:16847216::TATATATAATATATATATATATATATATATATATATAATAT,NC_000012.12:16847216::TATATATAT,NC_000012.12:16847216::TATATATATAAT,NC_000012.12:16847216::TATATATATAATAT,NC_000012.12:16847216::TATATATATAATATAT,NC_000012.12:16847216::TATATATATAATATATATATATATATATATATATATAATAT,NC_000012.12:16847216::TATATATATAATATATATATATATATATATATATATATAATAT,NC_000012.12:16847216::TATATATATAT,NC_000012.12:16847216::TATATATATATAAAATAT,NC_000012.12:16847216::TATATATATATAAT,NC_000012.12:16847216::TATATATATATAATAT,NC_000012.12:16847216::TATATATATATAATATAT,NC_000012.12:16847216::TATATATATATAATATATAT,NC_000012.12:16847216::TATATATATATAT,NC_000012.12:16847216::TATATATATATATAAT,NC_000012.12:16847216::TATATATATATATAATAT,NC_000012.12:16847216::TATATATATATATAATATAT,NC_000012.12:16847216::TATATATATATATAT,NC_000012.12:16847216::TATATATATATATATAAT,NC_000012.12:16847216::TATATATATATATATAATAT,NC_000012.12:16847216::TATATATATATATATAATATATATATATATAATAT,NC_000012.12:16847216::TATATATATATATATAT,NC_000012.12:16847216::TATATATATATATATATAATAT,NC_000012.12:16847216::TATATATATATATATATATAATAT,NC_000012.12:16847216::TATATATATATATATATATATAAT,NC_000012.12:16847216::TATATATATATATATATATATAATAT,NC_000012.12:16847216::TATATATATATATATATATATATATAAT,NC_000012.12:16847216::TATATATATATATATT,NC_000012.12:16847216::TATATATATATATATTAT,NC_000012.12:16847216::TATATATATATATT,NC_000012.12:16847216::TATATATATATT,NC_000012.12:16847216::TATATATT,NC_000012.12:16847216::TATATC,NC_000012.12:16847216::TATT
Gene:: LOC105369677 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATAAT=0./0 (ALFA)
HGVS:: NC_000012.12:g.16847216_16847217insT, NC_000012.12:g.16847216_16847217insTAT, NC_000012.12:g.16847216_16847217insTATAAT, NC_000012.12:g.16847216_16847217insTATAATATATATATATATATATATATATATATAATAT, NC_000012.12:g.16847216_16847217insTATAT, NC_000012.12:g.16847216_16847217insTATATAAAATATATATATATATATATATATATAATAT, NC_000012.12:g.16847216_16847217insTATATAAT, NC_000012.12:g.16847216_16847217insTATATAATAT, NC_000012.12:g.16847216_16847217insTATATAATATATATAT, NC_000012.12:g.16847216_16847217insTATATAATATATATATATATATATATATATAATAT, NC_000012.12:g.16847216_16847217insTATATAATATATATATATATATATATATATATAATAT, NC_000012.12:g.16847216_16847217insTATATAATATATATATATATATATATATATATATAATAT, NC_000012.12:g.16847216_16847217insTATATAATATATATATATATATATATATATATTATAT, NC_000012.12:g.16847216_16847217insTATATAT, NC_000012.12:g.16847216_16847217insTATATATAAAATAT, NC_000012.12:g.16847216_16847217insTATATATAAT, NC_000012.12:g.16847216_16847217insTATATATAATAT, NC_000012.12:g.16847216_16847217insTATATATAATATAT, NC_000012.12:g.16847216_16847217insTATATATAATATATATATATAT, NC_000012.12:g.16847216_16847217insTATATATAATATATATATATATATATATATAAT, NC_000012.12:g.16847216_16847217insTATATATAATATATATATATATATATATATATAATAT, NC_000012.12:g.16847216_16847217insTATATATAATATATATATATATATATATATATATAATAT, NC_000012.12:g.16847216_16847217insTATATATAATATATATATATATATATATATATATATAAT, NC_000012.12:g.16847216_16847217insTATATATAATATATATATATATATATATATATATATAATAT, NC_000012.12:g.16847216_16847217insTATATATAT, NC_000012.12:g.16847216_16847217insTATATATATAAT, NC_000012.12:g.16847216_16847217insTATATATATAATAT, NC_000012.12:g.16847216_16847217insTATATATATAATATAT, NC_000012.12:g.16847216_16847217insTATATATATAATATATATATATATATATATATATATAATAT, NC_000012.12:g.16847216_16847217insTATATATATAATATATATATATATATATATATATATATAATAT, NC_000012.12:g.16847216_16847217insTATATATATAT, NC_000012.12:g.16847216_16847217insTATATATATATAAAATAT, NC_000012.12:g.16847216_16847217insTATATATATATAAT, NC_000012.12:g.16847216_16847217insTATATATATATAATAT, NC_000012.12:g.16847216_16847217insTATATATATATAATATAT, NC_000012.12:g.16847216_16847217insTATATATATATAATATATAT, NC_000012.12:g.16847216_16847217insTATATATATATAT, NC_000012.12:g.16847216_16847217insTATATATATATATAAT, NC_000012.12:g.16847216_16847217insTATATATATATATAATAT, NC_000012.12:g.16847216_16847217insTATATATATATATAATATAT, NC_000012.12:g.16847216_16847217insTATATATATATATAT, NC_000012.12:g.16847216_16847217insTATATATATATATATAAT, NC_000012.12:g.16847216_16847217insTATATATATATATATAATAT, NC_000012.12:g.16847216_16847217insTATATATATATATATAATATATATATATATAATAT, NC_000012.12:g.16847216_16847217insTATATATATATATATAT, NC_000012.12:g.16847216_16847217insTATATATATATATATATAATAT, NC_000012.12:g.16847216_16847217insTATATATATATATATATATAATAT, NC_000012.12:g.16847216_16847217insTATATATATATATATATATATAAT, NC_000012.12:g.16847216_16847217insTATATATATATATATATATATAATAT, NC_000012.12:g.16847216_16847217insTATATATATATATATATATATATATAAT, NC_000012.12:g.16847216_16847217insTATATATATATATATT, NC_000012.12:g.16847216_16847217insTATATATATATATATTAT, NC_000012.12:g.16847216_16847217insTATATATATATATT, NC_000012.12:g.16847216_16847217insTATATATATATT, NC_000012.12:g.16847216_16847217insTATATATT, NC_000012.12:g.16847216_16847217insTATATC, NC_000012.12:g.16847216_16847217insTATT, NC_000012.11:g.17000150_17000151insT, NC_000012.11:g.17000150_17000151insTAT, NC_000012.11:g.17000150_17000151insTATAAT, NC_000012.11:g.17000150_17000151insTATAATATATATATATATATATATATATATATAATAT, NC_000012.11:g.17000150_17000151insTATAT, NC_000012.11:g.17000150_17000151insTATATAAAATATATATATATATATATATATATAATAT, NC_000012.11:g.17000150_17000151insTATATAAT, NC_000012.11:g.17000150_17000151insTATATAATAT, NC_000012.11:g.17000150_17000151insTATATAATATATATAT, NC_000012.11:g.17000150_17000151insTATATAATATATATATATATATATATATATAATAT, NC_000012.11:g.17000150_17000151insTATATAATATATATATATATATATATATATATAATAT, NC_000012.11:g.17000150_17000151insTATATAATATATATATATATATATATATATATATAATAT, NC_000012.11:g.17000150_17000151insTATATAATATATATATATATATATATATATATTATAT, NC_000012.11:g.17000150_17000151insTATATAT, NC_000012.11:g.17000150_17000151insTATATATAAAATAT, NC_000012.11:g.17000150_17000151insTATATATAAT, NC_000012.11:g.17000150_17000151insTATATATAATAT, NC_000012.11:g.17000150_17000151insTATATATAATATAT, NC_000012.11:g.17000150_17000151insTATATATAATATATATATATAT, NC_000012.11:g.17000150_17000151insTATATATAATATATATATATATATATATATAAT, NC_000012.11:g.17000150_17000151insTATATATAATATATATATATATATATATATATAATAT, NC_000012.11:g.17000150_17000151insTATATATAATATATATATATATATATATATATATAATAT, NC_000012.11:g.17000150_17000151insTATATATAATATATATATATATATATATATATATATAAT, NC_000012.11:g.17000150_17000151insTATATATAATATATATATATATATATATATATATATAATAT, NC_000012.11:g.17000150_17000151insTATATATAT, NC_000012.11:g.17000150_17000151insTATATATATAAT, NC_000012.11:g.17000150_17000151insTATATATATAATAT, NC_000012.11:g.17000150_17000151insTATATATATAATATAT, NC_000012.11:g.17000150_17000151insTATATATATAATATATATATATATATATATATATATAATAT, NC_000012.11:g.17000150_17000151insTATATATATAATATATATATATATATATATATATATATAATAT, NC_000012.11:g.17000150_17000151insTATATATATAT, NC_000012.11:g.17000150_17000151insTATATATATATAAAATAT, NC_000012.11:g.17000150_17000151insTATATATATATAAT, NC_000012.11:g.17000150_17000151insTATATATATATAATAT, NC_000012.11:g.17000150_17000151insTATATATATATAATATAT, NC_000012.11:g.17000150_17000151insTATATATATATAATATATAT, NC_000012.11:g.17000150_17000151insTATATATATATAT, NC_000012.11:g.17000150_17000151insTATATATATATATAAT, NC_000012.11:g.17000150_17000151insTATATATATATATAATAT, NC_000012.11:g.17000150_17000151insTATATATATATATAATATAT, NC_000012.11:g.17000150_17000151insTATATATATATATAT, NC_000012.11:g.17000150_17000151insTATATATATATATATAAT, NC_000012.11:g.17000150_17000151insTATATATATATATATAATAT, NC_000012.11:g.17000150_17000151insTATATATATATATATAATATATATATATATAATAT, NC_000012.11:g.17000150_17000151insTATATATATATATATAT, NC_000012.11:g.17000150_17000151insTATATATATATATATATAATAT, NC_000012.11:g.17000150_17000151insTATATATATATATATATATAATAT, NC_000012.11:g.17000150_17000151insTATATATATATATATATATATAAT, NC_000012.11:g.17000150_17000151insTATATATATATATATATATATAATAT, NC_000012.11:g.17000150_17000151insTATATATATATATATATATATATATAAT, NC_000012.11:g.17000150_17000151insTATATATATATATATT, NC_000012.11:g.17000150_17000151insTATATATATATATATTAT, NC_000012.11:g.17000150_17000151insTATATATATATATT, NC_000012.11:g.17000150_17000151insTATATATATATT, NC_000012.11:g.17000150_17000151insTATATATT, NC_000012.11:g.17000150_17000151insTATATC, NC_000012.11:g.17000150_17000151insTATT

Select item 149135607113.

rs1491356071 has merged into rs61627904 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTATTTATTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTATTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 12:16935977 (GRCh38)
12:17088911 (GRCh37)
Canonical SPDI:: NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTATTTATTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:16935965:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LOC105369677 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.16935977_16935989del, NC_000012.12:g.16935978_16935989del, NC_000012.12:g.16935979_16935989del, NC_000012.12:g.16935980_16935989del, NC_000012.12:g.16935981_16935989del, NC_000012.12:g.16935982_16935989del, NC_000012.12:g.16935983_16935989del, NC_000012.12:g.16935984_16935989del, NC_000012.12:g.16935985_16935989del, NC_000012.12:g.16935986_16935989del, NC_000012.12:g.16935987_16935989del, NC_000012.12:g.16935988_16935989del, NC_000012.12:g.16935989del, NC_000012.12:g.16935989dup, NC_000012.12:g.16935966_16935989T[25]ATTT[2]T[23], NC_000012.12:g.16935988_16935989dup, NC_000012.12:g.16935966_16935989T[26]ATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000012.12:g.16935987_16935989dup, NC_000012.12:g.16935966_16935989T[27]ATTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000012.12:g.16935966_16935989T[27]ATTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000012.12:g.16935966_16935989T[27]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000012.12:g.16935966_16935989T[27]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000012.12:g.16935966_16935989T[27]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000012.12:g.16935966_16935989T[27]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000012.12:g.16935966_16935989T[27]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000012.12:g.16935986_16935989dup, NC_000012.12:g.16935966_16935989T[28]ATTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000012.12:g.16935966_16935989T[28]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000012.12:g.16935966_16935989T[28]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000012.12:g.16935985_16935989dup, NC_000012.12:g.16935984_16935989dup, NC_000012.12:g.16935983_16935989dup, NC_000012.12:g.16935966_16935989T[31]ATTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000012.12:g.16935966_16935989T[31]GTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000012.12:g.16935982_16935989dup, NC_000012.12:g.16935966_16935989T[32]ATTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000012.12:g.16935981_16935989dup, NC_000012.12:g.16935966_16935989T[33]ATTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000012.12:g.16935966_16935989T[33]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000012.12:g.16935980_16935989dup, NC_000012.12:g.16935979_16935989dup, NC_000012.12:g.16935966_16935989T[35]GTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000012.12:g.16935978_16935989dup, NC_000012.12:g.16935977_16935989dup, NC_000012.12:g.16935976_16935989dup, NC_000012.12:g.16935975_16935989dup, NC_000012.12:g.16935974_16935989dup, NC_000012.12:g.16935973_16935989dup, NC_000012.12:g.16935972_16935989dup, NC_000012.12:g.16935971_16935989dup, NC_000012.12:g.16935970_16935989dup, NC_000012.12:g.16935969_16935989dup, NC_000012.12:g.16935968_16935989dup, NC_000012.12:g.16935967_16935989dup, NC_000012.12:g.16935989_16935990insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.16935989_16935990insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.16935989_16935990insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.16935989_16935990insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.16935989_16935990insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.16935989_16935990insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.17088911_17088923del, NC_000012.11:g.17088912_17088923del, NC_000012.11:g.17088913_17088923del, NC_000012.11:g.17088914_17088923del, NC_000012.11:g.17088915_17088923del, NC_000012.11:g.17088916_17088923del, NC_000012.11:g.17088917_17088923del, NC_000012.11:g.17088918_17088923del, NC_000012.11:g.17088919_17088923del, NC_000012.11:g.17088920_17088923del, NC_000012.11:g.17088921_17088923del, NC_000012.11:g.17088922_17088923del, NC_000012.11:g.17088923del, NC_000012.11:g.17088923dup, NC_000012.11:g.17088900_17088923T[25]ATTT[2]T[23], NC_000012.11:g.17088922_17088923dup, NC_000012.11:g.17088900_17088923T[26]ATTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000012.11:g.17088921_17088923dup, NC_000012.11:g.17088900_17088923T[27]ATTTTTCTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000012.11:g.17088900_17088923T[27]ATTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000012.11:g.17088900_17088923T[27]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000012.11:g.17088900_17088923T[27]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000012.11:g.17088900_17088923T[27]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000012.11:g.17088900_17088923T[27]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000012.11:g.17088900_17088923T[27]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000012.11:g.17088920_17088923dup, NC_000012.11:g.17088900_17088923T[28]ATTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000012.11:g.17088900_17088923T[28]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000012.11:g.17088900_17088923T[28]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000012.11:g.17088919_17088923dup, NC_000012.11:g.17088918_17088923dup, NC_000012.11:g.17088917_17088923dup, NC_000012.11:g.17088900_17088923T[31]ATTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000012.11:g.17088900_17088923T[31]GTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000012.11:g.17088916_17088923dup, NC_000012.11:g.17088900_17088923T[32]ATTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000012.11:g.17088915_17088923dup, NC_000012.11:g.17088900_17088923T[33]ATTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000012.11:g.17088900_17088923T[33]CTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000012.11:g.17088914_17088923dup, NC_000012.11:g.17088913_17088923dup, NC_000012.11:g.17088900_17088923T[35]GTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000012.11:g.17088912_17088923dup, NC_000012.11:g.17088911_17088923dup, NC_000012.11:g.17088910_17088923dup, NC_000012.11:g.17088909_17088923dup, NC_000012.11:g.17088908_17088923dup, NC_000012.11:g.17088907_17088923dup, NC_000012.11:g.17088906_17088923dup, NC_000012.11:g.17088905_17088923dup, NC_000012.11:g.17088904_17088923dup, NC_000012.11:g.17088903_17088923dup, NC_000012.11:g.17088902_17088923dup, NC_000012.11:g.17088901_17088923dup, NC_000012.11:g.17088923_17088924insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.17088923_17088924insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.17088923_17088924insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.17088923_17088924insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.17088923_17088924insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.17088923_17088924insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149134358614.

rs1491343586 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 12:16832662 (GRCh38)
12:16985596 (GRCh37)
Canonical SPDI:: NC_000012.12:16832661:TT:
Gene:: LOC105369677 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000012.12:g.16832662_16832663del, NC_000012.11:g.16985596_16985597del

Select item 149133891415.

rs1491338914 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATATATATTATATATATATAT,ATATATTATATATATATAT,ATATTATATATATATAT,ATTATATATATATAT,TATATATATATAT [Show Flanks]
Chromosome:: 12:16847196 (GRCh38)
12:17000131 (GRCh37)
Canonical SPDI:: NC_000012.12:16847196:TATATATATATAT:TATATATATATATATATATATTATATATATATAT,NC_000012.12:16847196:TATATATATATAT:TATATATATATATATATATTATATATATATAT,NC_000012.12:16847196:TATATATATATAT:TATATATATATATATATTATATATATATAT,NC_000012.12:16847196:TATATATATATAT:TATATATATATATATTATATATATATAT,NC_000012.12:16847196:TATATATATATAT:TATATATATATATTATATATATATAT
Gene:: LOC105369677 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATATTATATATATATAT=0./0 (ALFA)
TATATATATATATATAT=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.16847197_16847209TA[10]TTATATATATATAT[1], NC_000012.12:g.16847197_16847209TA[9]TTATATATATATAT[1], NC_000012.12:g.16847197_16847209TA[8]TTATATATATATAT[1], NC_000012.12:g.16847197_16847209TA[7]TTATATATATATAT[1], NC_000012.12:g.16847197_16847209dup, NC_000012.11:g.17000131_17000143TA[10]TTATATATATATAT[1], NC_000012.11:g.17000131_17000143TA[9]TTATATATATATAT[1], NC_000012.11:g.17000131_17000143TA[8]TTATATATATATAT[1], NC_000012.11:g.17000131_17000143TA[7]TTATATATATATAT[1], NC_000012.11:g.17000131_17000143dup

Select item 149131918516.

rs1491319185 has merged into rs1410907990 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACA>-,CACACA,CACACACA,CACACACACA,CACACACACACA [Show Flanks]
Chromosome:: 12:16982729 (GRCh38)
12:17135663 (GRCh37)
Canonical SPDI:: NC_000012.12:16982725:ACACACACACACACACA:ACA,NC_000012.12:16982725:ACACACACACACACACA:ACACACACA,NC_000012.12:16982725:ACACACACACACACACA:ACACACACACA,NC_000012.12:16982725:ACACACACACACACACA:ACACACACACACA,NC_000012.12:16982725:ACACACACACACACACA:ACACACACACACACA
Gene:: LOC105369677 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACA=0./0 (ALFA)
-=0.00821/138 (TOMMO)
-=0.01/6 (NorthernSweden)
-=0.12055/447 (TWINSUK)
-=0.13804/532 (ALSPAC)
-=0.3/12 (GENOME_DK)
HGVS:: NC_000012.12:g.16982727CA[1], NC_000012.12:g.16982727CA[4], NC_000012.12:g.16982727CA[5], NC_000012.12:g.16982727CA[6], NC_000012.12:g.16982727CA[7], NC_000012.11:g.17135661CA[1], NC_000012.11:g.17135661CA[4], NC_000012.11:g.17135661CA[5], NC_000012.11:g.17135661CA[6], NC_000012.11:g.17135661CA[7]

Select item 149130711317.

rs1491307113 has merged into rs146257375 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTTT,TTTTTTTTT [Show Flanks]
Chromosome:: 12:16936876 (GRCh38)
12:17089810 (GRCh37)
Canonical SPDI:: NC_000012.12:16936864:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:16936864:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:16936864:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:16936864:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:16936864:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:16936864:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:16936864:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: LOC105369677 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
T=0.01667/10 (NorthernSweden)
HGVS:: NC_000012.12:g.16936876_16936878del, NC_000012.12:g.16936877_16936878del, NC_000012.12:g.16936878del, NC_000012.12:g.16936878dup, NC_000012.12:g.16936877_16936878dup, NC_000012.12:g.16936875_16936878dup, NC_000012.12:g.16936873_16936878dup, NC_000012.11:g.17089810_17089812del, NC_000012.11:g.17089811_17089812del, NC_000012.11:g.17089812del, NC_000012.11:g.17089812dup, NC_000012.11:g.17089811_17089812dup, NC_000012.11:g.17089809_17089812dup, NC_000012.11:g.17089807_17089812dup

Select item 149129054018.

rs1491290540 has merged into rs11464045 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 12:16795237 (GRCh38)
12:16948171 (GRCh37)
Canonical SPDI:: NC_000012.12:16795224:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:16795224:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000012.12:16795224:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:16795224:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:16795224:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:16795224:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:16795224:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:16795224:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: LOC105369677 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000012.12:g.16795237_16795240del, NC_000012.12:g.16795238_16795240del, NC_000012.12:g.16795239_16795240del, NC_000012.12:g.16795240del, NC_000012.12:g.16795240dup, NC_000012.12:g.16795239_16795240dup, NC_000012.12:g.16795238_16795240dup, NC_000012.12:g.16795237_16795240dup, NC_000012.11:g.16948171_16948174del, NC_000012.11:g.16948172_16948174del, NC_000012.11:g.16948173_16948174del, NC_000012.11:g.16948174del, NC_000012.11:g.16948174dup, NC_000012.11:g.16948173_16948174dup, NC_000012.11:g.16948172_16948174dup, NC_000012.11:g.16948171_16948174dup

Select item 149128680619.

rs1491286806 has merged into rs372901965 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT,ATATATAT,ATATATATAT,ATATATATATAATATATATATATATATATATATAT,ATATATATATAT,ATATATATATATAATATATATATATATATATATAT,ATATATATATATAATATATATATATATATATATATAT,ATATATATATATAT,ATATATATATATATAATATATATATATATAT,ATATATATATATATAATATATATATATATATAT,ATATATATATATATAATATATATATATATATATAT,ATATATATATATATAATATATATATATATATATATAT,ATATATATATATATAATATATATATATATATATATATAT,ATATATATATATATAT,ATATATATATATATATAATATATATATATAT,ATATATATATATATATAATATATATATATATAT,ATATATATATATATATAATATATATATATATATAT,ATATATATATATATATAATATATATATATATATATAT,ATATATATATATATATAATATATATATATATATATATAT,ATATATATATATATATAATATATATATATATATATATATAT,ATATATATATATATATAATATATATATATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAATATATATATATATAT,ATATATATATATATATATAATATATATATATATATAT,ATATATATATATATATATAATATATATATATATATATAT,ATATATATATATATATATAATATATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAATATATATATATATAT,ATATATATATATATATATATAATATATATATATATATAT,ATATATATATATATATATATAATATATATATATATATATAT,ATATATATATATATATATATAATATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATTATATATATATATATATAT,ATATATATATATATATATTATATATATATATATATAT,ATATATATATATATATCATATATATATATATATATATAT,ATATATATATATATATTATATATATATATATAT,ATATATATATATATATTATATATATATATATATAT,ATATATATATATATATTATATATATATATATATATAT,ATATATATATATATATTATATATATATATATATATATAT,ATATATATATATATTATATATATATATATAT,ATATATATATATATTATATATATATATATATAT,ATATATATATTATATATATATATATAT,ATATATATTATATATATATATAT,ATATATTATATATATATATATATAT,ATATTATATATATATATATAT,ATATTATATATATATATATATAT,ATTATATATATATATAT [Show Flanks]
Chromosome:: 12:16847208 (GRCh38)
12:17000142 (GRCh37)
Canonical SPDI:: NC_000012.12:16847195:ATATATATATATAT:ATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATATATAATATATATATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATATATATAATATATATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATATATATAATATATATATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATATATATATAATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATATATATATAATATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATATATATATAATATATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATATATATATAATATATATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATATATATATAATATATATATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATATATATATATAATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATATATATATATAATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATATATATATATAATATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATATATATATATAATATATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATATATATATATAATATATATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATATATATATATAATATATATATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATATATATATATAATATATATATATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATATATATATATATAATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATATATATATATATAATATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATATATATATATATAATATATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATATATATATATATAATATATATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATATATATATATATATAATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATATATATATATATATAATATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATATATATATATATATAATATATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATATATATATATATATAATATATATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATATATATATATATATATAATATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATATATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATATATATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATAATATATATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATATATATATATATATTATATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATATATATATATATTATATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATATATATATATCATATATATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATATATATATATTATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATATATATATATTATATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATATATATATATTATATATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATATATATATATTATATATATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATATATATATTATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATATATATATTATATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATATATTATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATATTATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATATTATATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATTATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATATTATATATATATATATATAT,NC_000012.12:16847195:ATATATATATATAT:ATATATATATATATTATATATATATATAT
Gene:: LOC105369677 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATATAT=0./0 (ALFA)
HGVS:: NC_000012.12:g.16847196AT[6], NC_000012.12:g.16847196AT[8], NC_000012.12:g.16847196AT[9], NC_000012.12:g.16847196AT[10], NC_000012.12:g.16847196AT[11], NC_000012.12:g.16847196_16847209ATATATATATATATATATATATA[2]T[1], NC_000012.12:g.16847196AT[12], NC_000012.12:g.16847196_16847209AT[12]AATATATATATATATATATATAT[1], NC_000012.12:g.16847196_16847209AT[12]AATATATATATATATATATATATAT[1], NC_000012.12:g.16847196AT[13], NC_000012.12:g.16847196_16847209AT[13]AATATATATATATATAT[1], NC_000012.12:g.16847196_16847209AT[13]AATATATATATATATATAT[1], NC_000012.12:g.16847196_16847209AT[13]AATATATATATATATATATAT[1], NC_000012.12:g.16847196_16847209AT[13]AATATATATATATATATATATAT[1], NC_000012.12:g.16847196_16847209AT[13]AATATATATATATATATATATATAT[1], NC_000012.12:g.16847196AT[14], NC_000012.12:g.16847196_16847209AT[14]AATATATATATATAT[1], NC_000012.12:g.16847196_16847209AT[14]AATATATATATATATAT[1], NC_000012.12:g.16847196_16847209AT[14]AATATATATATATATATAT[1], NC_000012.12:g.16847196_16847209AT[14]AATATATATATATATATATAT[1], NC_000012.12:g.16847196_16847209AT[14]AATATATATATATATATATATAT[1], NC_000012.12:g.16847196_16847209AT[14]AATATATATATATATATATATATAT[1], NC_000012.12:g.16847196_16847209AT[14]AATATATATATATATATATATATATAT[1], NC_000012.12:g.16847196AT[15], NC_000012.12:g.16847196_16847209AT[15]AATATATATATATATAT[1], NC_000012.12:g.16847196_16847209AT[15]AATATATATATATATATAT[1], NC_000012.12:g.16847196_16847209AT[15]AATATATATATATATATATAT[1], NC_000012.12:g.16847196_16847209AT[15]AATATATATATATATATATATAT[1], NC_000012.12:g.16847196AT[16], NC_000012.12:g.16847196_16847209AT[16]AATATATATATATATAT[1], NC_000012.12:g.16847196_16847209AT[16]AATATATATATATATATAT[1], NC_000012.12:g.16847196_16847209AT[16]AATATATATATATATATATAT[1], NC_000012.12:g.16847196_16847209AT[16]AATATATATATATATATATATAT[1], NC_000012.12:g.16847196AT[17], NC_000012.12:g.16847196_16847209AT[17]AATATATATATATATATAT[1], NC_000012.12:g.16847196AT[18], NC_000012.12:g.16847196AT[19], NC_000012.12:g.16847196AT[20], NC_000012.12:g.16847196AT[21], NC_000012.12:g.16847196AT[22], NC_000012.12:g.16847196_16847209AT[22]AATATATATATATATATATATAT[1], NC_000012.12:g.16847196AT[23], NC_000012.12:g.16847196_16847209AT[16]TA[9]T[1], NC_000012.12:g.16847196_16847209AT[15]TA[9]T[1], NC_000012.12:g.16847196_16847209AT[14]CATATATATATATATATATATAT[1], NC_000012.12:g.16847196_16847209AT[14]TA[8]T[1], NC_000012.12:g.16847196_16847209AT[14]TA[9]T[1], NC_000012.12:g.16847196_16847209AT[14]TA[10]T[1], NC_000012.12:g.16847196_16847209AT[14]TA[11]T[1], NC_000012.12:g.16847196_16847209AT[13]TA[8]T[1], NC_000012.12:g.16847196_16847209AT[13]TA[9]T[1], NC_000012.12:g.16847196_16847209AT[11]TA[8]T[1], NC_000012.12:g.16847196_16847209AT[10]TA[7]T[1], NC_000012.12:g.16847196_16847209AT[9]TA[9]T[1], NC_000012.12:g.16847196_16847209AT[8]TA[8]T[1], NC_000012.12:g.16847196_16847209AT[8]TA[9]T[1], NC_000012.12:g.16847196_16847209AT[7]TA[7]T[1], NC_000012.11:g.17000130AT[6], NC_000012.11:g.17000130AT[8], NC_000012.11:g.17000130AT[9], NC_000012.11:g.17000130AT[10], NC_000012.11:g.17000130AT[11], NC_000012.11:g.17000130_17000143ATATATATATATATATATATATA[2]T[1], NC_000012.11:g.17000130AT[12], NC_000012.11:g.17000130_17000143AT[12]AATATATATATATATATATATAT[1], NC_000012.11:g.17000130_17000143AT[12]AATATATATATATATATATATATAT[1], NC_000012.11:g.17000130AT[13], NC_000012.11:g.17000130_17000143AT[13]AATATATATATATATAT[1], NC_000012.11:g.17000130_17000143AT[13]AATATATATATATATATAT[1], NC_000012.11:g.17000130_17000143AT[13]AATATATATATATATATATAT[1], NC_000012.11:g.17000130_17000143AT[13]AATATATATATATATATATATAT[1], NC_000012.11:g.17000130_17000143AT[13]AATATATATATATATATATATATAT[1], NC_000012.11:g.17000130AT[14], NC_000012.11:g.17000130_17000143AT[14]AATATATATATATAT[1], NC_000012.11:g.17000130_17000143AT[14]AATATATATATATATAT[1], NC_000012.11:g.17000130_17000143AT[14]AATATATATATATATATAT[1], NC_000012.11:g.17000130_17000143AT[14]AATATATATATATATATATAT[1], NC_000012.11:g.17000130_17000143AT[14]AATATATATATATATATATATAT[1], NC_000012.11:g.17000130_17000143AT[14]AATATATATATATATATATATATAT[1], NC_000012.11:g.17000130_17000143AT[14]AATATATATATATATATATATATATAT[1], NC_000012.11:g.17000130AT[15], NC_000012.11:g.17000130_17000143AT[15]AATATATATATATATAT[1], NC_000012.11:g.17000130_17000143AT[15]AATATATATATATATATAT[1], NC_000012.11:g.17000130_17000143AT[15]AATATATATATATATATATAT[1], NC_000012.11:g.17000130_17000143AT[15]AATATATATATATATATATATAT[1], NC_000012.11:g.17000130AT[16], NC_000012.11:g.17000130_17000143AT[16]AATATATATATATATAT[1], NC_000012.11:g.17000130_17000143AT[16]AATATATATATATATATAT[1], NC_000012.11:g.17000130_17000143AT[16]AATATATATATATATATATAT[1], NC_000012.11:g.17000130_17000143AT[16]AATATATATATATATATATATAT[1], NC_000012.11:g.17000130AT[17], NC_000012.11:g.17000130_17000143AT[17]AATATATATATATATATAT[1], NC_000012.11:g.17000130AT[18], NC_000012.11:g.17000130AT[19], NC_000012.11:g.17000130AT[20], NC_000012.11:g.17000130AT[21], NC_000012.11:g.17000130AT[22], NC_000012.11:g.17000130_17000143AT[22]AATATATATATATATATATATAT[1], NC_000012.11:g.17000130AT[23], NC_000012.11:g.17000130_17000143AT[16]TA[9]T[1], NC_000012.11:g.17000130_17000143AT[15]TA[9]T[1], NC_000012.11:g.17000130_17000143AT[14]CATATATATATATATATATATAT[1], NC_000012.11:g.17000130_17000143AT[14]TA[8]T[1], NC_000012.11:g.17000130_17000143AT[14]TA[9]T[1], NC_000012.11:g.17000130_17000143AT[14]TA[10]T[1], NC_000012.11:g.17000130_17000143AT[14]TA[11]T[1], NC_000012.11:g.17000130_17000143AT[13]TA[8]T[1], NC_000012.11:g.17000130_17000143AT[13]TA[9]T[1], NC_000012.11:g.17000130_17000143AT[11]TA[8]T[1], NC_000012.11:g.17000130_17000143AT[10]TA[7]T[1], NC_000012.11:g.17000130_17000143AT[9]TA[9]T[1], NC_000012.11:g.17000130_17000143AT[8]TA[8]T[1], NC_000012.11:g.17000130_17000143AT[8]TA[9]T[1], NC_000012.11:g.17000130_17000143AT[7]TA[7]T[1]

Select item 149125638020.

rs1491256380 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 12:16810110 (GRCh38)
12:16963044 (GRCh37)
Canonical SPDI:: NC_000012.12:16810109:GT:
Gene:: LOC105369677 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00093/11 (ALFA)
-=0.0001/9 (GnomAD)
-=0.00012/2 (TOMMO)
HGVS:: NC_000012.12:g.16810110_16810111del, NC_000012.11:g.16963044_16963045del

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dbSNP

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