SNP Links for Gene (Select 55924) - SNP

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Select item 14915670491.

rs1491567049 has merged into rs71078092 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG>-,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 1:111721781 (GRCh38)
1:112264403 (GRCh37)
Canonical SPDI:: NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: INKA2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTGTGTGTG=0./0 (ALFA)
HGVS:: NC_000001.11:g.111721767TG[7], NC_000001.11:g.111721767TG[10], NC_000001.11:g.111721767TG[11], NC_000001.11:g.111721767TG[12], NC_000001.11:g.111721767TG[13], NC_000001.11:g.111721767TG[14], NC_000001.11:g.111721767TG[15], NC_000001.11:g.111721767TG[16], NC_000001.11:g.111721767TG[17], NC_000001.11:g.111721767TG[18], NC_000001.11:g.111721767TG[19], NC_000001.11:g.111721767TG[20], NC_000001.11:g.111721767TG[21], NC_000001.11:g.111721767TG[22], NC_000001.11:g.111721767TG[23], NC_000001.11:g.111721767TG[24], NC_000001.11:g.111721767TG[25], NC_000001.11:g.111721767TG[26], NC_000001.11:g.111721767TG[27], NC_000001.11:g.111721767TG[29], NC_000001.11:g.111721767TG[30], NC_000001.11:g.111721767TG[31], NC_000001.11:g.111721767TG[32], NC_000001.11:g.111721767TG[33], NC_000001.11:g.111721767TG[34], NC_000001.11:g.111721767TG[35], NC_000001.11:g.111721767TG[36], NC_000001.11:g.111721767TG[37], NC_000001.11:g.111721767TG[38], NC_000001.11:g.111721767TG[39], NC_000001.11:g.111721767TG[40], NC_000001.11:g.111721767TG[41], NC_000001.11:g.111721767TG[42], NC_000001.11:g.111721767TG[44], NC_000001.10:g.112264389TG[7], NC_000001.10:g.112264389TG[10], NC_000001.10:g.112264389TG[11], NC_000001.10:g.112264389TG[12], NC_000001.10:g.112264389TG[13], NC_000001.10:g.112264389TG[14], NC_000001.10:g.112264389TG[15], NC_000001.10:g.112264389TG[16], NC_000001.10:g.112264389TG[17], NC_000001.10:g.112264389TG[18], NC_000001.10:g.112264389TG[19], NC_000001.10:g.112264389TG[20], NC_000001.10:g.112264389TG[21], NC_000001.10:g.112264389TG[22], NC_000001.10:g.112264389TG[23], NC_000001.10:g.112264389TG[24], NC_000001.10:g.112264389TG[25], NC_000001.10:g.112264389TG[26], NC_000001.10:g.112264389TG[27], NC_000001.10:g.112264389TG[29], NC_000001.10:g.112264389TG[30], NC_000001.10:g.112264389TG[31], NC_000001.10:g.112264389TG[32], NC_000001.10:g.112264389TG[33], NC_000001.10:g.112264389TG[34], NC_000001.10:g.112264389TG[35], NC_000001.10:g.112264389TG[36], NC_000001.10:g.112264389TG[37], NC_000001.10:g.112264389TG[38], NC_000001.10:g.112264389TG[39], NC_000001.10:g.112264389TG[40], NC_000001.10:g.112264389TG[41], NC_000001.10:g.112264389TG[42], NC_000001.10:g.112264389TG[44]

Select item 14915529302.

rs1491552930 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 1:111721765 (GRCh38)
1:112264387 (GRCh37)
Canonical SPDI:: NC_000001.11:111721764:AG:
Gene:: INKA2 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00011/2 (TOMMO)
-=0.00021/9 (GnomAD)
HGVS:: NC_000001.11:g.111721765_111721766del, NC_000001.10:g.112264387_112264388del

Select item 14915054543.

rs1491505454 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: 1:111728072 (GRCh38)
1:112270695 (GRCh37)
Canonical SPDI:: NC_000001.11:111728072:AGA:AGAGA
Gene:: INKA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGAGA=0./0 (ALFA)
AG=0.000036/5 (GnomAD)
HGVS:: NC_000001.11:g.111728074_111728075dup, NC_000001.10:g.112270696_112270697dup

Select item 14914673814.

rs1491467381 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 1:111745228 (GRCh38)
1:112287851 (GRCh37)
Canonical SPDI:: NC_000001.11:111745228:T:TGT
Gene:: INKA2 (Varview), INKA2-AS1 (Varview), LOC101928718 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGT=0./0 (ALFA)
TG=0.000018/2 (GnomAD)
TG=0.001095/2 (Korea1K)
TG=0.001133/19 (TOMMO)
HGVS:: NC_000001.11:g.111745229_111745230insGT, NC_000001.10:g.112287851_112287852insGT

Select item 14914226835.

rs1491422683 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CACAGA,CAGA [Show Flanks]
Chromosome:: 1:111745257 (GRCh38)
1:112287880 (GRCh37)
Canonical SPDI:: NC_000001.11:111745257:A:ACACAGA,NC_000001.11:111745257:A:ACAGA
Gene:: INKA2 (Varview), INKA2-AS1 (Varview), LOC101928718 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACAGA=0./0 (ALFA)
HGVS:: NC_000001.11:g.111745258AC[2]AGA[1], NC_000001.11:g.111745258_111745259insCAGA, NC_000001.10:g.112287880AC[2]AGA[1], NC_000001.10:g.112287880_112287881insCAGA

Select item 14914157646.

rs1491415764 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 1:111724565 (GRCh38)
1:112267187 (GRCh37)
Canonical SPDI:: NC_000001.11:111724564:GC:
Gene:: INKA2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/4 (ALFA)
-=0.00005/5 (GnomAD)
HGVS:: NC_000001.11:g.111724565_111724566del, NC_000001.10:g.112267187_112267188del, NM_019099.5:c.*2402_*2403del, NM_019099.4:c.*2402_*2403del, XM_011541783.3:c.*2402_*2403del, XM_011541783.2:c.*2402_*2403del, XM_011541783.1:c.*2402_*2403del, NM_198926.2:c.*2402_*2403del

Select item 14913602737.

rs1491360273 [Homo sapiens]

Variant type:: INS
Alleles:: ->AT [Show Flanks]
Chromosome:: 1:111726730 (GRCh38)
1:112269353 (GRCh37)
Canonical SPDI:: NC_000001.11:111726730::AT
Gene:: INKA2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AT=0.000214/3 (ALFA)
AT=0.000087/23 (TOPMED)
AT=0.000129/18 (GnomAD)
HGVS:: NC_000001.11:g.111726730_111726731insAT, NC_000001.10:g.112269352_112269353insAT, NM_019099.5:c.*237_*238insAT, NM_019099.4:c.*237_*238insAT, XM_011541783.3:c.*237_*238insAT, XM_011541783.2:c.*237_*238insAT, XM_011541783.1:c.*237_*238insAT, NM_198926.2:c.*237_*238insAT

Select item 14913172678.

rs1491317267 has merged into rs34918562 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:111728913 (GRCh38)
1:112271535 (GRCh37)
Canonical SPDI:: NC_000001.11:111728903:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:111728903:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:111728903:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:111728903:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:111728903:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:111728903:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:111728903:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:111728903:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:111728903:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:111728903:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111728903:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111728903:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111728903:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111728903:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111728903:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111728903:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111728903:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111728903:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111728903:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111728903:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111728903:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111728903:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: INKA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.111728913_111728919del, NC_000001.11:g.111728916_111728919del, NC_000001.11:g.111728917_111728919del, NC_000001.11:g.111728918_111728919del, NC_000001.11:g.111728919del, NC_000001.11:g.111728919dup, NC_000001.11:g.111728918_111728919dup, NC_000001.11:g.111728917_111728919dup, NC_000001.11:g.111728916_111728919dup, NC_000001.11:g.111728915_111728919dup, NC_000001.11:g.111728914_111728919dup, NC_000001.11:g.111728913_111728919dup, NC_000001.11:g.111728912_111728919dup, NC_000001.11:g.111728911_111728919dup, NC_000001.11:g.111728910_111728919dup, NC_000001.11:g.111728909_111728919dup, NC_000001.11:g.111728908_111728919dup, NC_000001.11:g.111728907_111728919dup, NC_000001.11:g.111728906_111728919dup, NC_000001.11:g.111728905_111728919dup, NC_000001.11:g.111728919_111728920insTTTTTTTTTTTTTTTTT, NC_000001.11:g.111728919_111728920insTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.112271535_112271541del, NC_000001.10:g.112271538_112271541del, NC_000001.10:g.112271539_112271541del, NC_000001.10:g.112271540_112271541del, NC_000001.10:g.112271541del, NC_000001.10:g.112271541dup, NC_000001.10:g.112271540_112271541dup, NC_000001.10:g.112271539_112271541dup, NC_000001.10:g.112271538_112271541dup, NC_000001.10:g.112271537_112271541dup, NC_000001.10:g.112271536_112271541dup, NC_000001.10:g.112271535_112271541dup, NC_000001.10:g.112271534_112271541dup, NC_000001.10:g.112271533_112271541dup, NC_000001.10:g.112271532_112271541dup, NC_000001.10:g.112271531_112271541dup, NC_000001.10:g.112271530_112271541dup, NC_000001.10:g.112271529_112271541dup, NC_000001.10:g.112271528_112271541dup, NC_000001.10:g.112271527_112271541dup, NC_000001.10:g.112271541_112271542insTTTTTTTTTTTTTTTTT, NC_000001.10:g.112271541_112271542insTTTTTTTTTTTTTTTTTTTT

Select item 14912158849.

rs1491215884 has merged into rs200702069 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTT>-,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:111745298 (GRCh38)
1:112287920 (GRCh37)
Canonical SPDI:: NC_000001.11:111745293:TTTTTTTTTTTTTTTTTTTTT:TTTT,NC_000001.11:111745293:TTTTTTTTTTTTTTTTTTTTT:TTTTTT,NC_000001.11:111745293:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000001.11:111745293:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:111745293:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:111745293:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:111745293:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:111745293:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:111745293:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:111745293:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:111745293:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:111745293:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:111745293:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:111745293:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:111745293:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:111745293:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111745293:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111745293:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111745293:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111745293:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111745293:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111745293:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:111745293:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: INKA2 (Varview), INKA2-AS1 (Varview), LOC101928718 (Varview)
Functional Consequence:: 500B_downstream_variant,genic_upstream_transcript_variant,downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.111745298_111745314del, NC_000001.11:g.111745300_111745314del, NC_000001.11:g.111745302_111745314del, NC_000001.11:g.111745303_111745314del, NC_000001.11:g.111745304_111745314del, NC_000001.11:g.111745305_111745314del, NC_000001.11:g.111745306_111745314del, NC_000001.11:g.111745307_111745314del, NC_000001.11:g.111745308_111745314del, NC_000001.11:g.111745309_111745314del, NC_000001.11:g.111745310_111745314del, NC_000001.11:g.111745311_111745314del, NC_000001.11:g.111745312_111745314del, NC_000001.11:g.111745313_111745314del, NC_000001.11:g.111745314del, NC_000001.11:g.111745314dup, NC_000001.11:g.111745313_111745314dup, NC_000001.11:g.111745312_111745314dup, NC_000001.11:g.111745311_111745314dup, NC_000001.11:g.111745310_111745314dup, NC_000001.11:g.111745309_111745314dup, NC_000001.11:g.111745308_111745314dup, NC_000001.11:g.111745307_111745314dup, NC_000001.10:g.112287920_112287936del, NC_000001.10:g.112287922_112287936del, NC_000001.10:g.112287924_112287936del, NC_000001.10:g.112287925_112287936del, NC_000001.10:g.112287926_112287936del, NC_000001.10:g.112287927_112287936del, NC_000001.10:g.112287928_112287936del, NC_000001.10:g.112287929_112287936del, NC_000001.10:g.112287930_112287936del, NC_000001.10:g.112287931_112287936del, NC_000001.10:g.112287932_112287936del, NC_000001.10:g.112287933_112287936del, NC_000001.10:g.112287934_112287936del, NC_000001.10:g.112287935_112287936del, NC_000001.10:g.112287936del, NC_000001.10:g.112287936dup, NC_000001.10:g.112287935_112287936dup, NC_000001.10:g.112287934_112287936dup, NC_000001.10:g.112287933_112287936dup, NC_000001.10:g.112287932_112287936dup, NC_000001.10:g.112287931_112287936dup, NC_000001.10:g.112287930_112287936dup, NC_000001.10:g.112287929_112287936dup

Select item 149111479410.

rs1491114794 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGCG,TGCGCG [Show Flanks]
Chromosome:: 1:111749445 (GRCh38)
1:112292068 (GRCh37)
Canonical SPDI:: NC_000001.11:111749445:G:GTGCG,NC_000001.11:111749445:G:GTGCGCG
Gene:: INKA2 (Varview), LOC101928718 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGCGCG=0./0 (ALFA)
GTGC=0.00018/3 (TOMMO)
HGVS:: NC_000001.11:g.111749446_111749447insTGCG, NC_000001.11:g.111749446_111749447insTGCGCG, NC_000001.10:g.112292068_112292069insTGCG, NC_000001.10:g.112292068_112292069insTGCGCG

Select item 149099884511.

rs1490998845 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:111750287 (GRCh38)
1:112292909 (GRCh37)
Canonical SPDI:: NC_000001.11:111750286:T:C
Gene:: INKA2 (Varview), LOC101928718 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.111750287T>C, NC_000001.10:g.112292909T>C

Select item 149085259212.

rs1490852592 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:111736757 (GRCh38)
1:112279379 (GRCh37)
Canonical SPDI:: NC_000001.11:111736756:T:G
Gene:: INKA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.111736757T>G, NC_000001.10:g.112279379T>G

Select item 149030490913.

rs1490304909 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:111722866 (GRCh38)
1:112265488 (GRCh37)
Canonical SPDI:: NC_000001.11:111722865:G:A,NC_000001.11:111722865:G:C
Gene:: INKA2 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.111722866G>A, NC_000001.11:g.111722866G>C, NC_000001.10:g.112265488G>A, NC_000001.10:g.112265488G>C, NM_019099.5:c.*4102C>T, NM_019099.5:c.*4102C>G, NM_019099.4:c.*4102C>T, NM_019099.4:c.*4102C>G, XM_011541783.3:c.*4102C>T, XM_011541783.3:c.*4102C>G, XM_011541783.2:c.*4102C>T, XM_011541783.2:c.*4102C>G, XM_011541783.1:c.*4102C>T, XM_011541783.1:c.*4102C>G, NM_198926.2:c.*4102C>T, NM_198926.2:c.*4102C>G

Select item 149025938314.

rs1490259383 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:111727549 (GRCh38)
1:112270171 (GRCh37)
Canonical SPDI:: NC_000001.11:111727548:A:G
Gene:: INKA2 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.111727549A>G, NC_000001.10:g.112270171A>G, NM_019099.5:c.313T>C, NM_019099.4:c.313T>C, XM_011541783.3:c.256T>C, XM_011541783.2:c.256T>C, XM_011541783.1:c.256T>C, NM_198926.2:c.268T>C, NP_061972.1:p.Phe105Leu, XP_011540085.1:p.Phe86Leu, NP_945120.1:p.Phe90Leu

Select item 149018220015.

rs1490182200 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:111750813 (GRCh38)
1:112293436 (GRCh37)
Canonical SPDI:: NC_000001.11:111750813:T:TT
Gene:: INKA2 (Varview), LOC101928718 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000043/6 (GnomAD)
T=0.000053/14 (TOPMED)
HGVS:: NC_000001.11:g.111750814dup, NC_000001.10:g.112293436dup

Select item 149006908016.

rs1490069080 has merged into rs71078092 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG>-,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 1:111721781 (GRCh38)
1:112264403 (GRCh37)
Canonical SPDI:: NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000001.11:111721765:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: INKA2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTGTGTGTG=0./0 (ALFA)
HGVS:: NC_000001.11:g.111721767TG[7], NC_000001.11:g.111721767TG[10], NC_000001.11:g.111721767TG[11], NC_000001.11:g.111721767TG[12], NC_000001.11:g.111721767TG[13], NC_000001.11:g.111721767TG[14], NC_000001.11:g.111721767TG[15], NC_000001.11:g.111721767TG[16], NC_000001.11:g.111721767TG[17], NC_000001.11:g.111721767TG[18], NC_000001.11:g.111721767TG[19], NC_000001.11:g.111721767TG[20], NC_000001.11:g.111721767TG[21], NC_000001.11:g.111721767TG[22], NC_000001.11:g.111721767TG[23], NC_000001.11:g.111721767TG[24], NC_000001.11:g.111721767TG[25], NC_000001.11:g.111721767TG[26], NC_000001.11:g.111721767TG[27], NC_000001.11:g.111721767TG[29], NC_000001.11:g.111721767TG[30], NC_000001.11:g.111721767TG[31], NC_000001.11:g.111721767TG[32], NC_000001.11:g.111721767TG[33], NC_000001.11:g.111721767TG[34], NC_000001.11:g.111721767TG[35], NC_000001.11:g.111721767TG[36], NC_000001.11:g.111721767TG[37], NC_000001.11:g.111721767TG[38], NC_000001.11:g.111721767TG[39], NC_000001.11:g.111721767TG[40], NC_000001.11:g.111721767TG[41], NC_000001.11:g.111721767TG[42], NC_000001.11:g.111721767TG[44], NC_000001.10:g.112264389TG[7], NC_000001.10:g.112264389TG[10], NC_000001.10:g.112264389TG[11], NC_000001.10:g.112264389TG[12], NC_000001.10:g.112264389TG[13], NC_000001.10:g.112264389TG[14], NC_000001.10:g.112264389TG[15], NC_000001.10:g.112264389TG[16], NC_000001.10:g.112264389TG[17], NC_000001.10:g.112264389TG[18], NC_000001.10:g.112264389TG[19], NC_000001.10:g.112264389TG[20], NC_000001.10:g.112264389TG[21], NC_000001.10:g.112264389TG[22], NC_000001.10:g.112264389TG[23], NC_000001.10:g.112264389TG[24], NC_000001.10:g.112264389TG[25], NC_000001.10:g.112264389TG[26], NC_000001.10:g.112264389TG[27], NC_000001.10:g.112264389TG[29], NC_000001.10:g.112264389TG[30], NC_000001.10:g.112264389TG[31], NC_000001.10:g.112264389TG[32], NC_000001.10:g.112264389TG[33], NC_000001.10:g.112264389TG[34], NC_000001.10:g.112264389TG[35], NC_000001.10:g.112264389TG[36], NC_000001.10:g.112264389TG[37], NC_000001.10:g.112264389TG[38], NC_000001.10:g.112264389TG[39], NC_000001.10:g.112264389TG[40], NC_000001.10:g.112264389TG[41], NC_000001.10:g.112264389TG[42], NC_000001.10:g.112264389TG[44]

Select item 149005178417.

rs1490051784 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:111736041 (GRCh38)
1:112278663 (GRCh37)
Canonical SPDI:: NC_000001.11:111736040:C:T
Gene:: INKA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.111736041C>T, NC_000001.10:g.112278663C>T

Select item 149003614918.

rs1490036149 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>- [Show Flanks]
Chromosome:: 1:111737288 (GRCh38)
1:112279910 (GRCh37)
Canonical SPDI:: NC_000001.11:111737286:GTG:G
Gene:: INKA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.111737288_111737289del, NC_000001.10:g.112279910_112279911del

Select item 148996936419.

rs1489969364 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:111738650 (GRCh38)
1:112281272 (GRCh37)
Canonical SPDI:: NC_000001.11:111738649:C:T
Gene:: INKA2 (Varview), INKA2-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.111738650C>T, NC_000001.10:g.112281272C>T

Select item 148992460220.

rs1489924602 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:111755825 (GRCh38)
1:112298447 (GRCh37)
Canonical SPDI:: NC_000001.11:111755824:A:G
Gene:: DDX20 (Varview), INKA2 (Varview), LOC101928718 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.111755825A>G, NC_000001.10:g.112298447A>G, NM_007204.4:c.-100A>G

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