SNP Links for Gene (Select 100130691) - SNP

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Select item 14915884031.

rs1491588403 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA [Show Flanks]
Chromosome:: 2:177376332 (GRCh38)
2:178241061 (GRCh37)
Canonical SPDI:: NC_000002.12:177376332::A,NC_000002.12:177376332::AA
Gene:: LOC100130691 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.00105/48 (GnomAD)
HGVS:: NC_000002.12:g.177376332_177376333insA, NC_000002.12:g.177376332_177376333insAA, NC_000002.11:g.178241060_178241061insA, NC_000002.11:g.178241060_178241061insAA

Select item 14915874402.

rs1491587440 has merged into rs61038321 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:177389765 (GRCh38)
2:178254493 (GRCh37)
Canonical SPDI:: NC_000002.12:177389754:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:177389754:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:177389754:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:177389754:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:177389754:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:177389754:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:177389754:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:177389754:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:177389754:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:177389754:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:177389754:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:177389754:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:177389754:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:177389754:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:177389754:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:177389754:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:177389754:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:177389754:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:177389754:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:177389754:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:177389754:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:177389754:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:177389754:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:177389754:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:177389754:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:177389754:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:177389754:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:177389754:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:177389754:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:177389754:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:177389754:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:177389754:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:177389754:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:177389754:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:177389754:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:177389754:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:177389754:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:177389754:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:177389754:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LOC100130691 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.177389765_177389778del, NC_000002.12:g.177389766_177389778del, NC_000002.12:g.177389768_177389778del, NC_000002.12:g.177389769_177389778del, NC_000002.12:g.177389770_177389778del, NC_000002.12:g.177389771_177389778del, NC_000002.12:g.177389772_177389778del, NC_000002.12:g.177389773_177389778del, NC_000002.12:g.177389774_177389778del, NC_000002.12:g.177389775_177389778del, NC_000002.12:g.177389776_177389778del, NC_000002.12:g.177389777_177389778del, NC_000002.12:g.177389778del, NC_000002.12:g.177389778dup, NC_000002.12:g.177389777_177389778dup, NC_000002.12:g.177389776_177389778dup, NC_000002.12:g.177389775_177389778dup, NC_000002.12:g.177389774_177389778dup, NC_000002.12:g.177389773_177389778dup, NC_000002.12:g.177389772_177389778dup, NC_000002.12:g.177389771_177389778dup, NC_000002.12:g.177389770_177389778dup, NC_000002.12:g.177389769_177389778dup, NC_000002.12:g.177389768_177389778dup, NC_000002.12:g.177389767_177389778dup, NC_000002.12:g.177389766_177389778dup, NC_000002.12:g.177389765_177389778dup, NC_000002.12:g.177389764_177389778dup, NC_000002.12:g.177389755_177389778T[39]CTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.177389755_177389778T[41]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.12:g.177389760_177389778dup, NC_000002.12:g.177389758_177389778dup, NC_000002.12:g.177389757_177389778dup, NC_000002.12:g.177389756_177389778dup, NC_000002.12:g.177389755_177389778dup, NC_000002.12:g.177389778_177389779insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.177389778_177389779insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.177389778_177389779insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.177389778_177389779insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.178254493_178254506del, NC_000002.11:g.178254494_178254506del, NC_000002.11:g.178254496_178254506del, NC_000002.11:g.178254497_178254506del, NC_000002.11:g.178254498_178254506del, NC_000002.11:g.178254499_178254506del, NC_000002.11:g.178254500_178254506del, NC_000002.11:g.178254501_178254506del, NC_000002.11:g.178254502_178254506del, NC_000002.11:g.178254503_178254506del, NC_000002.11:g.178254504_178254506del, NC_000002.11:g.178254505_178254506del, NC_000002.11:g.178254506del, NC_000002.11:g.178254506dup, NC_000002.11:g.178254505_178254506dup, NC_000002.11:g.178254504_178254506dup, NC_000002.11:g.178254503_178254506dup, NC_000002.11:g.178254502_178254506dup, NC_000002.11:g.178254501_178254506dup, NC_000002.11:g.178254500_178254506dup, NC_000002.11:g.178254499_178254506dup, NC_000002.11:g.178254498_178254506dup, NC_000002.11:g.178254497_178254506dup, NC_000002.11:g.178254496_178254506dup, NC_000002.11:g.178254495_178254506dup, NC_000002.11:g.178254494_178254506dup, NC_000002.11:g.178254493_178254506dup, NC_000002.11:g.178254492_178254506dup, NC_000002.11:g.178254483_178254506T[39]CTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.178254483_178254506T[41]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000002.11:g.178254488_178254506dup, NC_000002.11:g.178254486_178254506dup, NC_000002.11:g.178254485_178254506dup, NC_000002.11:g.178254484_178254506dup, NC_000002.11:g.178254483_178254506dup, NC_000002.11:g.178254506_178254507insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.178254506_178254507insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.178254506_178254507insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.178254506_178254507insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008968.1:g.2023_2036del, NG_008968.1:g.2024_2036del, NG_008968.1:g.2026_2036del, NG_008968.1:g.2027_2036del, NG_008968.1:g.2028_2036del, NG_008968.1:g.2029_2036del, NG_008968.1:g.2030_2036del, NG_008968.1:g.2031_2036del, NG_008968.1:g.2032_2036del, NG_008968.1:g.2033_2036del, NG_008968.1:g.2034_2036del, NG_008968.1:g.2035_2036del, NG_008968.1:g.2036del, NG_008968.1:g.2036dup, NG_008968.1:g.2035_2036dup, NG_008968.1:g.2034_2036dup, NG_008968.1:g.2033_2036dup, NG_008968.1:g.2032_2036dup, NG_008968.1:g.2031_2036dup, NG_008968.1:g.2030_2036dup, NG_008968.1:g.2029_2036dup, NG_008968.1:g.2028_2036dup, NG_008968.1:g.2027_2036dup, NG_008968.1:g.2026_2036dup, NG_008968.1:g.2025_2036dup, NG_008968.1:g.2024_2036dup, NG_008968.1:g.2023_2036dup, NG_008968.1:g.2022_2036dup, NG_008968.1:g.2013_2036T[39]CTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_008968.1:g.2013_2036T[41]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_008968.1:g.2018_2036dup, NG_008968.1:g.2016_2036dup, NG_008968.1:g.2015_2036dup, NG_008968.1:g.2014_2036dup, NG_008968.1:g.2013_2036dup, NG_008968.1:g.2036_2037insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008968.1:g.2036_2037insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008968.1:g.2036_2037insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008968.1:g.2036_2037insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14915762273.

rs1491576227 [Homo sapiens]

Variant type:: INS
Alleles:: ->CATATATTTATATATAT,T,TAT,TATAT,TATATAT,TATATATAT,TATATATATATATATAT,TATATATATATATTTATATATAT,TATATATATT,TATATATATTTATATATAT,TATATATATTTATATATATAT,TATATATT,TATATATTTATATAT,TATATATTTATATATAT,TATATATTTATATATATAT,TATATATTTATCTATAT,TATATT,TATATTTATATATAT,TATATTTTTATATATAT,TATT,TATTT,TGTTTATATATAT,TT,TTT,TTTATATATATAT [Show Flanks]
Chromosome:: 2:177353866 (GRCh38)
2:178218595 (GRCh37)
Canonical SPDI:: NC_000002.12:177353866::CATATATTTATATATAT,NC_000002.12:177353866::T,NC_000002.12:177353866::TAT,NC_000002.12:177353866::TATAT,NC_000002.12:177353866::TATATAT,NC_000002.12:177353866::TATATATAT,NC_000002.12:177353866::TATATATATATATATAT,NC_000002.12:177353866::TATATATATATATTTATATATAT,NC_000002.12:177353866::TATATATATT,NC_000002.12:177353866::TATATATATTTATATATAT,NC_000002.12:177353866::TATATATATTTATATATATAT,NC_000002.12:177353866::TATATATT,NC_000002.12:177353866::TATATATTTATATAT,NC_000002.12:177353866::TATATATTTATATATAT,NC_000002.12:177353866::TATATATTTATATATATAT,NC_000002.12:177353866::TATATATTTATCTATAT,NC_000002.12:177353866::TATATT,NC_000002.12:177353866::TATATTTATATATAT,NC_000002.12:177353866::TATATTTTTATATATAT,NC_000002.12:177353866::TATT,NC_000002.12:177353866::TATTT,NC_000002.12:177353866::TGTTTATATATAT,NC_000002.12:177353866::TT,NC_000002.12:177353866::TTT,NC_000002.12:177353866::TTTATATATATAT
Gene:: LOC100130691 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TAT=0./0 (ALFA)
HGVS:: NC_000002.12:g.177353866_177353867insCATATATTTATATATAT, NC_000002.12:g.177353866_177353867insT, NC_000002.12:g.177353866_177353867insTAT, NC_000002.12:g.177353866_177353867insTATAT, NC_000002.12:g.177353866_177353867insTATATAT, NC_000002.12:g.177353866_177353867insTATATATAT, NC_000002.12:g.177353866_177353867insTATATATATATATATAT, NC_000002.12:g.177353866_177353867insTATATATATATATTTATATATAT, NC_000002.12:g.177353866_177353867insTATATATATT, NC_000002.12:g.177353866_177353867insTATATATATTTATATATAT, NC_000002.12:g.177353866_177353867insTATATATATTTATATATATAT, NC_000002.12:g.177353866_177353867insTATATATT, NC_000002.12:g.177353866_177353867insTATATATTTATATAT, NC_000002.12:g.177353866_177353867insTATATATTTATATATAT, NC_000002.12:g.177353866_177353867insTATATATTTATATATATAT, NC_000002.12:g.177353866_177353867insTATATATTTATCTATAT, NC_000002.12:g.177353866_177353867insTATATT, NC_000002.12:g.177353866_177353867insTATATTTATATATAT, NC_000002.12:g.177353866_177353867insTATATTTTTATATATAT, NC_000002.12:g.177353866_177353867insTATT, NC_000002.12:g.177353866_177353867insTATTT, NC_000002.12:g.177353866_177353867insTGTTTATATATAT, NC_000002.12:g.177353866_177353867insTT, NC_000002.12:g.177353866_177353867insTTT, NC_000002.12:g.177353866_177353867insTTTATATATATAT, NC_000002.11:g.178218594_178218595insCATATATTTATATATAT, NC_000002.11:g.178218594_178218595insT, NC_000002.11:g.178218594_178218595insTAT, NC_000002.11:g.178218594_178218595insTATAT, NC_000002.11:g.178218594_178218595insTATATAT, NC_000002.11:g.178218594_178218595insTATATATAT, NC_000002.11:g.178218594_178218595insTATATATATATATATAT, NC_000002.11:g.178218594_178218595insTATATATATATATTTATATATAT, NC_000002.11:g.178218594_178218595insTATATATATT, NC_000002.11:g.178218594_178218595insTATATATATTTATATATAT, NC_000002.11:g.178218594_178218595insTATATATATTTATATATATAT, NC_000002.11:g.178218594_178218595insTATATATT, NC_000002.11:g.178218594_178218595insTATATATTTATATAT, NC_000002.11:g.178218594_178218595insTATATATTTATATATAT, NC_000002.11:g.178218594_178218595insTATATATTTATATATATAT, NC_000002.11:g.178218594_178218595insTATATATTTATCTATAT, NC_000002.11:g.178218594_178218595insTATATT, NC_000002.11:g.178218594_178218595insTATATTTATATATAT, NC_000002.11:g.178218594_178218595insTATATTTTTATATATAT, NC_000002.11:g.178218594_178218595insTATT, NC_000002.11:g.178218594_178218595insTATTT, NC_000002.11:g.178218594_178218595insTGTTTATATATAT, NC_000002.11:g.178218594_178218595insTT, NC_000002.11:g.178218594_178218595insTTT, NC_000002.11:g.178218594_178218595insTTTATATATATAT

Select item 14915754514.

rs1491575451 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:177389754 (GRCh38)
2:178254482 (GRCh37)
Canonical SPDI:: NC_000002.12:177389753:AT:
Gene:: LOC100130691 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000023/2 (GnomAD)
HGVS:: NC_000002.12:g.177389754_177389755del, NC_000002.11:g.178254482_178254483del, NG_008968.1:g.2012_2013del

Select item 14915420215.

rs1491542021 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AG,GG [Show Flanks]
Chromosome:: 2:177350594 (GRCh38)
2:178215323 (GRCh37)
Canonical SPDI:: NC_000002.12:177350594:G:GAG,NC_000002.12:177350594:G:GGG
Gene:: LOC100130691 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GGG=0./0 (ALFA)
GA=0.00029/9 (GnomAD)
HGVS:: NC_000002.12:g.177350595_177350596insAG, NC_000002.12:g.177350595_177350596insGG, NC_000002.11:g.178215323_178215324insAG, NC_000002.11:g.178215323_178215324insGG

Select item 14915184156.

rs1491518415 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:177353855 (GRCh38)
2:178218584 (GRCh37)
Canonical SPDI:: NC_000002.12:177353855:A:AA
Gene:: LOC100130691 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000002.12:g.177353856dup, NC_000002.11:g.178218584dup

Select item 14915098337.

rs1491509833 has merged into rs527341058 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>-,TGTG [Show Flanks]
Chromosome:: 2:177350542 (GRCh38)
2:178215270 (GRCh37)
Canonical SPDI:: NC_000002.12:177350530:GTGTGTGTGTGTG:GTGTGTGTGTG,NC_000002.12:177350530:GTGTGTGTGTGTG:GTGTGTGTGTGTGTG
Gene:: LOC100130691 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTG=0./0 (ALFA)
GT=0.00016/4 (TOMMO)
GT=0.00599/30 (1000Genomes)
HGVS:: NC_000002.12:g.177350532TG[5], NC_000002.12:g.177350532TG[7], NC_000002.11:g.178215260TG[5], NC_000002.11:g.178215260TG[7]

Select item 14914870488.

rs1491487048 has merged into rs1370017070 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA,GAGAGA,GAGAGAGA [Show Flanks]
Chromosome:: 2:177351308 (GRCh38)
2:178216036 (GRCh37)
Canonical SPDI:: NC_000002.12:177351299:GAGAGAGAGAGA:GAGAGAGA,NC_000002.12:177351299:GAGAGAGAGAGA:GAGAGAGAGA,NC_000002.12:177351299:GAGAGAGAGAGA:GAGAGAGAGAGAGA,NC_000002.12:177351299:GAGAGAGAGAGA:GAGAGAGAGAGAGAGA
Gene:: LOC100130691 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAGAGAGA=0./0 (ALFA)
-=0.00044/7 (TOMMO)
-=0.00109/2 (Korea1K)
HGVS:: NC_000002.12:g.177351300GA[4], NC_000002.12:g.177351300GA[5], NC_000002.12:g.177351300GA[7], NC_000002.12:g.177351300GA[8], NC_000002.11:g.178216028GA[4], NC_000002.11:g.178216028GA[5], NC_000002.11:g.178216028GA[7], NC_000002.11:g.178216028GA[8]

Select item 14914498399.

rs1491449839 [Homo sapiens]

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

Select item 149144721110.

rs1491447211 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 2:177351212 (GRCh38)
2:178215940 (GRCh37)
Canonical SPDI:: NC_000002.12:177351211:TT:
Gene:: LOC100130691 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.177351212_177351213del, NC_000002.11:g.178215940_178215941del

Select item 149137077411.

rs1491370774 has merged into rs67975871 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>-,AGAG [Show Flanks]
Chromosome:: 2:177349703 (GRCh38)
2:178214431 (GRCh37)
Canonical SPDI:: NC_000002.12:177349701:GAG:G,NC_000002.12:177349701:GAG:GAGAG
Gene:: LOC100130691 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGAG=0./0 (ALFA)
-=0.00078/13 (TOMMO)
-=0.0864/333 (ALSPAC)
-=0.13161/488 (TWINSUK)
HGVS:: NC_000002.12:g.177349703_177349704del, NC_000002.12:g.177349703_177349704dup, NC_000002.11:g.178214431_178214432del, NC_000002.11:g.178214431_178214432dup

Select item 149136717112.

rs1491367171 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:177349982 (GRCh38)
2:178214711 (GRCh37)
Canonical SPDI:: NC_000002.12:177349982::G
Gene:: LOC100130691 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.000023/3 (GnomAD)
G=0.000169/4 (TOMMO)
HGVS:: NC_000002.12:g.177349982_177349983insG, NC_000002.11:g.178214710_178214711insG

Select item 149133646713.

rs1491336467 has merged into rs61153749 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:177295351 (GRCh38)
2:178160079 (GRCh37)
Canonical SPDI:: NC_000002.12:177295338:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:177295338:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:177295338:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:177295338:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:177295338:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:177295338:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:177295338:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:177295338:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:177295338:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:177295338:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:177295338:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:177295338:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:177295338:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:177295338:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:177295338:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:177295338:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:177295338:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:177295338:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LOC100130691 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.177295351_177295364del, NC_000002.12:g.177295352_177295364del, NC_000002.12:g.177295353_177295364del, NC_000002.12:g.177295354_177295364del, NC_000002.12:g.177295355_177295364del, NC_000002.12:g.177295356_177295364del, NC_000002.12:g.177295358_177295364del, NC_000002.12:g.177295359_177295364del, NC_000002.12:g.177295360_177295364del, NC_000002.12:g.177295361_177295364del, NC_000002.12:g.177295362_177295364del, NC_000002.12:g.177295363_177295364del, NC_000002.12:g.177295364del, NC_000002.12:g.177295364dup, NC_000002.12:g.177295363_177295364dup, NC_000002.12:g.177295362_177295364dup, NC_000002.12:g.177295361_177295364dup, NC_000002.12:g.177295360_177295364dup, NC_000002.11:g.178160079_178160092del, NC_000002.11:g.178160080_178160092del, NC_000002.11:g.178160081_178160092del, NC_000002.11:g.178160082_178160092del, NC_000002.11:g.178160083_178160092del, NC_000002.11:g.178160084_178160092del, NC_000002.11:g.178160086_178160092del, NC_000002.11:g.178160087_178160092del, NC_000002.11:g.178160088_178160092del, NC_000002.11:g.178160089_178160092del, NC_000002.11:g.178160090_178160092del, NC_000002.11:g.178160091_178160092del, NC_000002.11:g.178160092del, NC_000002.11:g.178160092dup, NC_000002.11:g.178160091_178160092dup, NC_000002.11:g.178160090_178160092dup, NC_000002.11:g.178160089_178160092dup, NC_000002.11:g.178160088_178160092dup

Select item 149132878014.

rs1491328780 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTGTGT [Show Flanks]
Chromosome:: 2:177350531 (GRCh38)
2:178215260 (GRCh37)
Canonical SPDI:: NC_000002.12:177350531:TGTGT:TGTGTCTGTGT
Gene:: LOC100130691 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: TGTGTC=0.000008/1 (GnomAD)
HGVS:: NC_000002.12:g.177350532_177350536TG[2]TCTGTGT[1], NC_000002.11:g.178215260_178215264TG[2]TCTGTGT[1]

Select item 149132612815.

rs1491326128 has merged into rs374420541 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATA>-,TATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATAAAAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA,TATATATATATATAAATATATATATTTATATATATAAATATATATATTTATATATATATATA,TATATATATATATAAATATATATATTTATATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA,TATATATATATATAAATATATATATTTATATATATATATATATAAATATATATATTTATATATATATATA,TATATATATATATAAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATATA,TATATATATATATAAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATA,TATATATATATATAAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA,TATATATATATATAAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATATA,TATATATATATATAAATATATATATTTATATATATATATTTATATATATATATA,TATATATATATATATA,TATATATATATATATAAAAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATAAATATATATATTTATATATATATA,TATATATATATATATAAAAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATATA,TATATATATATATATAAAAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATA,TATATATATATATATAAAAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA,TATATATATATATATAAATATATATATTTATATATATATATA,TATATATATATATATAAATATATATATTTATATATATATATAAATATATATATTTATATATATATTTATATATATAAATATATATATTTATATATATATATA,TATATATATATATATAAATATATATATTTATATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA,TATATATATATATATAAATATATATATTTATATATATATATATATAAATATATATATTTATATATATATATA,TATATATATATATATAAATATATATATTTATATATATATATATATATAAATATATATATTTATATATATATATA,TATATATATATATATAAATATATATATTTATATATATATATTTATATATATATAAATATATATATATATTTATATATATATAAATATATATATTTATATATATATATA,TATATATATATATATAAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATA,TATATATATATATATAAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATATA,TATATATATATATATAAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATATAAATATATATATTTATATATATATATA,TATATATATATATATAAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATATATA,TATATATATATATATAAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATATTTATATATATATATA,TATATATATATATATAAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATA,TATATATATATATATAAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATAAATATATATATTTATATATATATATA,TATATATATATATATAAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA,TATATATATATATATAAATATATATATTTATATATATATATTTATATATATATATA,TATATATATATATATAAATATATATATTTATATATATATATTTATATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA,TATATATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA,TATATATATATATATATA,TATATATATATATATATAAAAATATATATATTTATATATATATATTTATATATATAAATATATATATTTATATATATATATA,TATATATATATATATATAAAAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATATA,TATATATATATATATATAAATATATATATTTATATATATATAAATATATATATTTATATATATATATA,TATATATATATATATATAAATATATATATTTATATATATATATA,TATATATATATATATATAAATATATATATTTATATATATATATTTATATATATA,TATATATATATATATATAAATATATATATTTATATATATATATTTATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA,TATATATATATATATATAAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATA,TATATATATATATATATAAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATATA,TATATATATATATATATAAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATATAAATATATATATTTATATATATA,TATATATATATATATATAAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATATAAATATATATATTTATATATATATATA,TATATATATATATATATAAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATTTATATATATAAATATATATATTTATATATATATATA,TATATATATATATATATAAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA,TATATATATATATATATAAATATATATATTTATATATATATATTTATATATATATATA,TATATATATATATATATAAATATATATATTTATATATATATATTTATATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA,TATATATATATATATATAAATATATATATTTATATATATATATTTATATATATATATATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA,TATATATATATATATATAAATATATATATTTATATATATATATTTATATATATATATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA,TATATATATATATATATAAATATATATATTTATATATATATATTTATATATATATTTATATATATATATA,TATATATATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA,TATATATATATATATATAAATATATATATTTATATATATATTTATATATATATATA,TATATATATATATATATAAATATATATATTTATATATATATTTATATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA,TATATATATATATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATATA,TATATATATATATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA,TATATATATATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATATA,TATATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA,TATATATATTTATATATATA,TATATATATTTATATATATATA,TATATATATTTATATATATATAAATATATATATA,TATATATATTTATATATATATAAATATATATATAAATATATATATATTTATATATATATA,TATATATATTTATATATATATAAATATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATATA,TATATATATTTATATATATATAAATATATATATTTATATATATATATTTATATATATATA,TATATATATTTATATATATATAAATATATATATTTATATATATATTTATATATATATA,TATATATATTTATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA,TATATATATTTATATATATATATA,TATATATATTTTATATATATA,TATATATATTTTTATATATATA [Show Flanks]
Chromosome:: 2:177353871 (GRCh38)
2:178218599 (GRCh37)
Canonical SPDI:: NC_000002.12:177353869:ATATATATA:A,NC_000002.12:177353869:ATATATATA:ATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATAAAAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATAAATATATATATTTATATATATAAATATATATATTTATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATAAATATATATATTTATATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATAAATATATATATTTATATATATATATATATAAATATATATATTTATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATAAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATAAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATAAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATAAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATAAATATATATATTTATATATATATATTTATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATATAAAAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATAAATATATATATTTATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATATAAAAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATATAAAAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATATAAAAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATATAAATATATATATTTATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATATAAATATATATATTTATATATATATATAAATATATATATTTATATATATATTTATATATATAAATATATATATTTATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATATAAATATATATATTTATATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATATAAATATATATATTTATATATATATATATATAAATATATATATTTATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATATAAATATATATATTTATATATATATATATATATAAATATATATATTTATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATATAAATATATATATTTATATATATATATTTATATATATATAAATATATATATATATTTATATATATATAAATATATATATTTATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATATAAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATATAAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATATAAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATATAAATATATATATTTATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATATAAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATATAAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATATTTATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATATAAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATATAAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATAAATATATATATTTATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATATAAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATATAAATATATATATTTATATATATATATTTATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATATAAATATATATATTTATATATATATATTTATATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATATATAAAAATATATATATTTATATATATATATTTATATATATAAATATATATATTTATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATATATAAAAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATATATAAATATATATATTTATATATATATAAATATATATATTTATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATATATAAATATATATATTTATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATATATAAATATATATATTTATATATATATATTTATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATATATAAATATATATATTTATATATATATATTTATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATATATAAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATATATAAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATATATAAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATATAAATATATATATTTATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATATATAAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATATAAATATATATATTTATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATATATAAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATTTATATATATAAATATATATATTTATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATATATAAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATATATAAATATATATATTTATATATATATATTTATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATATATAAATATATATATTTATATATATATATTTATATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATATATAAATATATATATTTATATATATATATTTATATATATATATATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATATATAAATATATATATTTATATATATATATTTATATATATATATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATATATAAATATATATATTTATATATATATATTTATATATATATTTATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATATATAAATATATATATTTATATATATATTTATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATATATAAATATATATATTTATATATATATTTATATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATTTATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATTTATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATTTATATATATATAAATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATTTATATATATATAAATATATATATAAATATATATATATTTATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATTTATATATATATAAATATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATTTATATATATATAAATATATATATTTATATATATATATTTATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATTTATATATATATAAATATATATATTTATATATATATTTATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATTTATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATTTATATATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATTTTATATATATA,NC_000002.12:177353869:ATATATATA:ATATATATATTTTTATATATATA
Gene:: LOC100130691 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATA=0./0 (ALFA)
HGVS:: NC_000002.12:g.177353871_177353878del, NC_000002.12:g.177353871TA[3], NC_000002.12:g.177353871TA[5], NC_000002.12:g.177353871TA[6], NC_000002.12:g.177353871TA[7], NC_000002.12:g.177353870_177353878AT[7]A[5]TATATATATTTATA[2]TA[4]AATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.12:g.177353870_177353878AT[7]AAATATATATATTTATATATAT[2]AT[2]A[1], NC_000002.12:g.177353870_177353878AT[7]AAATATATATATTTATATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.12:g.177353870_177353878ATATATATATATATAAATATATATATTTAT[2]AT[5]A[1], NC_000002.12:g.177353870_177353878AT[7]AAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.12:g.177353870_177353878AT[7]AAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATA[1], NC_000002.12:g.177353870_177353878AT[7]AAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.12:g.177353870_177353878AT[7]AAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATATA[1], NC_000002.12:g.177353870_177353878AT[7]AAATATATATATTTATATATATATATTTATATATATATATA[1], NC_000002.12:g.177353871TA[8], NC_000002.12:g.177353870_177353878AT[8]A[5]TATATATATTTATA[2]TATATATAAATATATATATTTATA[2]TA[4], NC_000002.12:g.177353870_177353878AT[8]A[5]TATATATATTTATA[2]TA[4]AATATATATATTTATATATATATATA[1], NC_000002.12:g.177353870_177353878AT[8]A[5]TATATATATTTATA[2]TA[4]AATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATA[1], NC_000002.12:g.177353870_177353878AT[8]A[5]TATATATATTTATA[2]TA[4]AATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.12:g.177353870_177353878AT[8]AAATATATATATTTATATATATATATA[1], NC_000002.12:g.177353870_177353878AT[8]AAATATATATATTTATATATATATATAAATATATATATTTATATATATATTTATATATATAAATATATATATTTATATATATATATA[1], NC_000002.12:g.177353870_177353878AT[8]AAATATATATATTTATATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.12:g.177353870_177353878ATATATATATATATATAAATATATATATTT[2]AT[6]A[1], NC_000002.12:g.177353870_177353878ATATATATATATATATAAATATATATATTTAT[2]AT[5]A[1], NC_000002.12:g.177353870_177353878AT[8]AAATATATATATTTATATATATATATTTATATATATATAAATATATATATATATTTATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.12:g.177353870_177353878AT[8]AAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATA[1], NC_000002.12:g.177353870_177353878AT[8]AAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.12:g.177353870_177353878AT[8]AAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.12:g.177353870_177353878AT[8]AAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATATATA[1], NC_000002.12:g.177353870_177353878AT[8]AAATATATATATTTATATATATATATTTATATATATAT[2]ATA[1], NC_000002.12:g.177353870_177353878AT[8]AAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATA[1], NC_000002.12:g.177353870_177353878AT[8]AAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.12:g.177353870_177353878AT[8]AAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.12:g.177353870_177353878AT[8]AAATATATATATTTATATATATATATTTATATATATATATA[1], NC_000002.12:g.177353870_177353878AT[8]AAATATATATATTTATATATATATATTTATATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.12:g.177353870_177353878AT[8]AAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.12:g.177353871TA[9], NC_000002.12:g.177353870_177353878AT[9]A[5]TATATATATTTATA[2]TA[3]AATATATATATTTATATATATATATA[1], NC_000002.12:g.177353870_177353878AT[9]A[5]TATATATATTTATA[2]TA[4]AATATATATATTTATATATATATATA[1], NC_000002.12:g.177353870_177353878AT[9]AAATATATATATTTATATATATAT[2]ATA[1], NC_000002.12:g.177353870_177353878AT[9]AAATATATATATTTATATATATATATA[1], NC_000002.12:g.177353870_177353878AT[9]AAATATATATATTTATATATATATATTTATATATATA[1], NC_000002.12:g.177353870_177353878AT[9]AAATATATATATTTATATATATATATTTATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.12:g.177353870_177353878AT[9]AAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATA[1], NC_000002.12:g.177353870_177353878AT[9]AAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.12:g.177353870_177353878AT[9]AAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATATAAATATATATATTTATATATATA[1], NC_000002.12:g.177353870_177353878AT[9]AAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.12:g.177353870_177353878AT[9]AAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATTTATATATATAAATATATATATTTATATATATATATA[1], NC_000002.12:g.177353870_177353878AT[9]AAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.12:g.177353870_177353878AT[9]AAATATATATATTTATATATATATATTTATATATATATATA[1], NC_000002.12:g.177353870_177353878AT[9]AAATATATATATTTATATATATATATTTATATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.12:g.177353870_177353878AT[9]AAATATATATATTTATATATATATATTTATATATATATATATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.12:g.177353870_177353878AT[9]AAATATATATATTTATATATATATATTTATATATATATATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.12:g.177353870_177353878AT[9]AAATATATATATTTATATATATATATTTATATATATATTTATATATATATATA[1], NC_000002.12:g.177353870_177353878AT[9]AAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.12:g.177353870_177353878AT[9]AAATATATATATTTATATATATATTTATATATATATATA[1], NC_000002.12:g.177353870_177353878AT[9]AAATATATATATTTATATATATATTTATATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.12:g.177353871TA[10], NC_000002.12:g.177353870_177353878AT[10]AAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.12:g.177353870_177353878AT[11]TTATATATATATATTTATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.12:g.177353870_177353878AT[11]TTATATATATATATTTATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.12:g.177353870_177353878AT[10]TTATATATATATATTTATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.12:g.177353870_177353878AT[7]TTATATATATAT[2]AAATATATATATTTATATATATATATA[1], NC_000002.12:g.177353870_177353878AT[5]TTATATATATA[1], NC_000002.12:g.177353870_177353878AT[5]TTATATATATATA[1], NC_000002.12:g.177353870_177353878AT[5]TTATATATATATAAATATATATATA[1], NC_000002.12:g.177353870_177353878AT[5]TTATATATATATAAATATATATATAAATATATATATATTTATATATATATA[1], NC_000002.12:g.177353870_177353878AT[5]TTATATATATATAAATATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.12:g.177353870_177353878AT[5]TTATATATATATAAATATATATATTTATATATATATATTTATATATATATA[1], NC_000002.12:g.177353870_177353878AT[5]TTATATATATATAAATATATATATTTATATATATATTTATATATATATA[1], NC_000002.12:g.177353870_177353878ATATATATATTTATATATATATAAATATATATATTT[2]AT[6]A[1], NC_000002.12:g.177353870_177353878AT[5]TTATATATATATATA[1], NC_000002.12:g.177353870_177353878AT[5]TTTATATATATA[1], NC_000002.12:g.177353870_177353878AT[5]T[4]AT[4]A[1], NC_000002.11:g.178218599_178218606del, NC_000002.11:g.178218599TA[3], NC_000002.11:g.178218599TA[5], NC_000002.11:g.178218599TA[6], NC_000002.11:g.178218599TA[7], NC_000002.11:g.178218598_178218606AT[7]A[5]TATATATATTTATA[2]TA[4]AATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.11:g.178218598_178218606AT[7]AAATATATATATTTATATATAT[2]AT[2]A[1], NC_000002.11:g.178218598_178218606AT[7]AAATATATATATTTATATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.11:g.178218598_178218606ATATATATATATATAAATATATATATTTAT[2]AT[5]A[1], NC_000002.11:g.178218598_178218606AT[7]AAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.11:g.178218598_178218606AT[7]AAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATA[1], NC_000002.11:g.178218598_178218606AT[7]AAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.11:g.178218598_178218606AT[7]AAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATATA[1], NC_000002.11:g.178218598_178218606AT[7]AAATATATATATTTATATATATATATTTATATATATATATA[1], NC_000002.11:g.178218599TA[8], NC_000002.11:g.178218598_178218606AT[8]A[5]TATATATATTTATA[2]TATATATAAATATATATATTTATA[2]TA[4], NC_000002.11:g.178218598_178218606AT[8]A[5]TATATATATTTATA[2]TA[4]AATATATATATTTATATATATATATA[1], NC_000002.11:g.178218598_178218606AT[8]A[5]TATATATATTTATA[2]TA[4]AATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATA[1], NC_000002.11:g.178218598_178218606AT[8]A[5]TATATATATTTATA[2]TA[4]AATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.11:g.178218598_178218606AT[8]AAATATATATATTTATATATATATATA[1], NC_000002.11:g.178218598_178218606AT[8]AAATATATATATTTATATATATATATAAATATATATATTTATATATATATTTATATATATAAATATATATATTTATATATATATATA[1], NC_000002.11:g.178218598_178218606AT[8]AAATATATATATTTATATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.11:g.178218598_178218606ATATATATATATATATAAATATATATATTT[2]AT[6]A[1], NC_000002.11:g.178218598_178218606ATATATATATATATATAAATATATATATTTAT[2]AT[5]A[1], NC_000002.11:g.178218598_178218606AT[8]AAATATATATATTTATATATATATATTTATATATATATAAATATATATATATATTTATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.11:g.178218598_178218606AT[8]AAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATA[1], NC_000002.11:g.178218598_178218606AT[8]AAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.11:g.178218598_178218606AT[8]AAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.11:g.178218598_178218606AT[8]AAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATATATA[1], NC_000002.11:g.178218598_178218606AT[8]AAATATATATATTTATATATATATATTTATATATATAT[2]ATA[1], NC_000002.11:g.178218598_178218606AT[8]AAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATA[1], NC_000002.11:g.178218598_178218606AT[8]AAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.11:g.178218598_178218606AT[8]AAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.11:g.178218598_178218606AT[8]AAATATATATATTTATATATATATATTTATATATATATATA[1], NC_000002.11:g.178218598_178218606AT[8]AAATATATATATTTATATATATATATTTATATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.11:g.178218598_178218606AT[8]AAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.11:g.178218599TA[9], NC_000002.11:g.178218598_178218606AT[9]A[5]TATATATATTTATA[2]TA[3]AATATATATATTTATATATATATATA[1], NC_000002.11:g.178218598_178218606AT[9]A[5]TATATATATTTATA[2]TA[4]AATATATATATTTATATATATATATA[1], NC_000002.11:g.178218598_178218606AT[9]AAATATATATATTTATATATATAT[2]ATA[1], NC_000002.11:g.178218598_178218606AT[9]AAATATATATATTTATATATATATATA[1], NC_000002.11:g.178218598_178218606AT[9]AAATATATATATTTATATATATATATTTATATATATA[1], NC_000002.11:g.178218598_178218606AT[9]AAATATATATATTTATATATATATATTTATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.11:g.178218598_178218606AT[9]AAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATA[1], NC_000002.11:g.178218598_178218606AT[9]AAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.11:g.178218598_178218606AT[9]AAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATATAAATATATATATTTATATATATA[1], NC_000002.11:g.178218598_178218606AT[9]AAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.11:g.178218598_178218606AT[9]AAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATTTATATATATAAATATATATATTTATATATATATATA[1], NC_000002.11:g.178218598_178218606AT[9]AAATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.11:g.178218598_178218606AT[9]AAATATATATATTTATATATATATATTTATATATATATATA[1], NC_000002.11:g.178218598_178218606AT[9]AAATATATATATTTATATATATATATTTATATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.11:g.178218598_178218606AT[9]AAATATATATATTTATATATATATATTTATATATATATATATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.11:g.178218598_178218606AT[9]AAATATATATATTTATATATATATATTTATATATATATATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.11:g.178218598_178218606AT[9]AAATATATATATTTATATATATATATTTATATATATATTTATATATATATATA[1], NC_000002.11:g.178218598_178218606AT[9]AAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.11:g.178218598_178218606AT[9]AAATATATATATTTATATATATATTTATATATATATATA[1], NC_000002.11:g.178218598_178218606AT[9]AAATATATATATTTATATATATATTTATATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.11:g.178218599TA[10], NC_000002.11:g.178218598_178218606AT[10]AAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.11:g.178218598_178218606AT[11]TTATATATATATATTTATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.11:g.178218598_178218606AT[11]TTATATATATATATTTATATATATATAAATATATATATTTATATATATATTTATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.11:g.178218598_178218606AT[10]TTATATATATATATTTATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.11:g.178218598_178218606AT[7]TTATATATATAT[2]AAATATATATATTTATATATATATATA[1], NC_000002.11:g.178218598_178218606AT[5]TTATATATATA[1], NC_000002.11:g.178218598_178218606AT[5]TTATATATATATA[1], NC_000002.11:g.178218598_178218606AT[5]TTATATATATATAAATATATATATA[1], NC_000002.11:g.178218598_178218606AT[5]TTATATATATATAAATATATATATAAATATATATATATTTATATATATATA[1], NC_000002.11:g.178218598_178218606AT[5]TTATATATATATAAATATATATATATTTATATATATATATTTATATATATATAAATATATATATTTATATATATATATA[1], NC_000002.11:g.178218598_178218606AT[5]TTATATATATATAAATATATATATTTATATATATATATTTATATATATATA[1], NC_000002.11:g.178218598_178218606AT[5]TTATATATATATAAATATATATATTTATATATATATTTATATATATATA[1], NC_000002.11:g.178218598_178218606ATATATATATTTATATATATATAAATATATATATTT[2]AT[6]A[1], NC_000002.11:g.178218598_178218606AT[5]TTATATATATATATA[1], NC_000002.11:g.178218598_178218606AT[5]TTTATATATATA[1], NC_000002.11:g.178218598_178218606AT[5]T[4]AT[4]A[1]

Select item 149131687316.

rs1491316873 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 2:177349983 (GRCh38)
2:178214711 (GRCh37)
Canonical SPDI:: NC_000002.12:177349981:TTT:T
Gene:: LOC100130691 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000044/6 (GnomAD)
-=0.000463/11 (TOMMO)
HGVS:: NC_000002.12:g.177349983_177349984del, NC_000002.11:g.178214711_178214712del

Select item 149130604317.

rs1491306043 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGTG [Show Flanks]
Chromosome:: 2:177349679 (GRCh38)
2:178214408 (GRCh37)
Canonical SPDI:: NC_000002.12:177349679:GTG:GTGAGTG
Gene:: LOC100130691 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GTGAGTG=0.00008/1 (ALFA)
GTGA=0.0015/5 (GnomAD)
HGVS:: NC_000002.12:g.177349682_177349683insAGTG, NC_000002.11:g.178214410_178214411insAGTG

Select item 149128043418.

rs1491280434 has merged into rs1368226075 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T [Show Flanks]
Chromosome:: 2:177297974 (GRCh38)
2:178162702 (GRCh37)
Canonical SPDI:: NC_000002.12:177297971:TTTT:TT,NC_000002.12:177297971:TTTT:TTT
Gene:: LOC100130691 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTT=0./0 (ALFA)
HGVS:: NC_000002.12:g.177297974_177297975del, NC_000002.12:g.177297975del, NC_000002.11:g.178162702_178162703del, NC_000002.11:g.178162703del

Select item 149126156219.

rs1491261562 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:177293708 (GRCh38)
2:178158436 (GRCh37)
Canonical SPDI:: NC_000002.12:177293707:CA:
Gene:: LOC100130691 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.177293708_177293709del, NC_000002.11:g.178158436_178158437del

Select item 149126090020.

rs1491260900 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 2:177376332 (GRCh38)
2:178241060 (GRCh37)
Canonical SPDI:: NC_000002.12:177376331:CC:
Gene:: LOC100130691 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.177376332_177376333del, NC_000002.11:g.178241060_178241061del

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