SNP Links for Gene (Select 106144538) - SNP

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Select item 14915714281.

rs1491571428 has merged into rs11341536 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 20:44722476 (GRCh38)
20:43351117 (GRCh37)
Canonical SPDI:: NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000020.11:44722465:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CCN5 (Varview), KCNK15-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000020.11:g.44722476_44722485del, NC_000020.11:g.44722481_44722485del, NC_000020.11:g.44722482_44722485del, NC_000020.11:g.44722483_44722485del, NC_000020.11:g.44722484_44722485del, NC_000020.11:g.44722485del, NC_000020.11:g.44722485dup, NC_000020.11:g.44722484_44722485dup, NC_000020.11:g.44722483_44722485dup, NC_000020.11:g.44722482_44722485dup, NC_000020.11:g.44722481_44722485dup, NC_000020.11:g.44722479_44722485dup, NC_000020.10:g.43351117_43351126del, NC_000020.10:g.43351122_43351126del, NC_000020.10:g.43351123_43351126del, NC_000020.10:g.43351124_43351126del, NC_000020.10:g.43351125_43351126del, NC_000020.10:g.43351126del, NC_000020.10:g.43351126dup, NC_000020.10:g.43351125_43351126dup, NC_000020.10:g.43351124_43351126dup, NC_000020.10:g.43351123_43351126dup, NC_000020.10:g.43351122_43351126dup, NC_000020.10:g.43351120_43351126dup

Select item 14915709482.

rs1491570948 has merged into rs56881463 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:44731466 (GRCh38)
20:43360107 (GRCh37)
Canonical SPDI:: NC_000020.11:44731454:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:44731454:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:44731454:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:44731454:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:44731454:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:44731454:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:44731454:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:44731454:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:44731454:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:44731454:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:44731454:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:44731454:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:44731454:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:44731454:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:44731454:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:44731454:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:44731454:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:44731454:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:44731454:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: KCNK15-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.1132/567 (1000Genomes)
HGVS:: NC_000020.11:g.44731466_44731468del, NC_000020.11:g.44731467_44731468del, NC_000020.11:g.44731468del, NC_000020.11:g.44731468dup, NC_000020.11:g.44731467_44731468dup, NC_000020.11:g.44731466_44731468dup, NC_000020.11:g.44731465_44731468dup, NC_000020.11:g.44731464_44731468dup, NC_000020.11:g.44731462_44731468dup, NC_000020.11:g.44731461_44731468dup, NC_000020.11:g.44731460_44731468dup, NC_000020.11:g.44731459_44731468dup, NC_000020.11:g.44731458_44731468dup, NC_000020.11:g.44731457_44731468dup, NC_000020.11:g.44731456_44731468dup, NC_000020.11:g.44731455_44731468dup, NC_000020.11:g.44731468_44731469insAAAAAAAAAAAAAAA, NC_000020.11:g.44731468_44731469insAAAAAAAAAAAAAAAA, NC_000020.11:g.44731468_44731469insAAAAAAAAAAAAAAAAAAA, NC_000020.10:g.43360107_43360109del, NC_000020.10:g.43360108_43360109del, NC_000020.10:g.43360109del, NC_000020.10:g.43360109dup, NC_000020.10:g.43360108_43360109dup, NC_000020.10:g.43360107_43360109dup, NC_000020.10:g.43360106_43360109dup, NC_000020.10:g.43360105_43360109dup, NC_000020.10:g.43360103_43360109dup, NC_000020.10:g.43360102_43360109dup, NC_000020.10:g.43360101_43360109dup, NC_000020.10:g.43360100_43360109dup, NC_000020.10:g.43360099_43360109dup, NC_000020.10:g.43360098_43360109dup, NC_000020.10:g.43360097_43360109dup, NC_000020.10:g.43360096_43360109dup, NC_000020.10:g.43360109_43360110insAAAAAAAAAAAAAAA, NC_000020.10:g.43360109_43360110insAAAAAAAAAAAAAAAA, NC_000020.10:g.43360109_43360110insAAAAAAAAAAAAAAAAAAA

Select item 14915593403.

rs1491559340 [Homo sapiens]

Variant type:: INS
Alleles:: ->AA,AAA,AAAA,AAAGAAA,AAAGAAAGAAA,AAAGAAAGAAAGAAA,AAAGAAAGAAAGAAAGAAA,AAAGGAAA,AAAGGAAAGAAA [Show Flanks]
Chromosome:: 20:44712274 (GRCh38)
20:43340916 (GRCh37)
Canonical SPDI:: NC_000020.11:44712274::AA,NC_000020.11:44712274::AAA,NC_000020.11:44712274::AAAA,NC_000020.11:44712274::AAAGAAA,NC_000020.11:44712274::AAAGAAAGAAA,NC_000020.11:44712274::AAAGAAAGAAAGAAA,NC_000020.11:44712274::AAAGAAAGAAAGAAAGAAA,NC_000020.11:44712274::AAAGGAAA,NC_000020.11:44712274::AAAGGAAAGAAA
Gene:: KCNK15-AS1 (Varview), LOC124904911 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAGGAAAGAAA=0./0 (ALFA)
AA=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.44712274_44712275insAA, NC_000020.11:g.44712274_44712275insAAA, NC_000020.11:g.44712274_44712275insAAAA, NC_000020.11:g.44712274_44712275insAAAGAAA, NC_000020.11:g.44712274_44712275insAAAGAAAGAAA, NC_000020.11:g.44712274_44712275insAAAGAAAGAAAGAAA, NC_000020.11:g.44712274_44712275insAAAGAAAGAAAGAAAGAAA, NC_000020.11:g.44712274_44712275insAAAGGAAA, NC_000020.11:g.44712274_44712275insAAAGGAAAGAAA, NC_000020.10:g.43340915_43340916insAA, NC_000020.10:g.43340915_43340916insAAA, NC_000020.10:g.43340915_43340916insAAAA, NC_000020.10:g.43340915_43340916insAAAGAAA, NC_000020.10:g.43340915_43340916insAAAGAAAGAAA, NC_000020.10:g.43340915_43340916insAAAGAAAGAAAGAAA, NC_000020.10:g.43340915_43340916insAAAGAAAGAAAGAAAGAAA, NC_000020.10:g.43340915_43340916insAAAGGAAA, NC_000020.10:g.43340915_43340916insAAAGGAAAGAAA

Select item 14915359694.

rs1491535969 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:44721511 (GRCh38)
20:43350152 (GRCh37)
Canonical SPDI:: NC_000020.11:44721510:CA:
Gene:: CCN5 (Varview), KCNK15-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00059/7 (ALFA)
-=0.00066/18 (TOMMO)
HGVS:: NC_000020.11:g.44721511_44721512del, NC_000020.10:g.43350152_43350153del

Select item 14915025005.

rs1491502500 has merged into rs60571299 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:44717896 (GRCh38)
20:43346537 (GRCh37)
Canonical SPDI:: NC_000020.11:44717885:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:44717885:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:44717885:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:44717885:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:44717885:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:44717885:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:44717885:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:44717885:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:44717885:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CCN5 (Varview), KCNK15-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.000034/9 (TOPMED)
HGVS:: NC_000020.11:g.44717896_44717899del, NC_000020.11:g.44717897_44717899del, NC_000020.11:g.44717898_44717899del, NC_000020.11:g.44717899del, NC_000020.11:g.44717899dup, NC_000020.11:g.44717898_44717899dup, NC_000020.11:g.44717897_44717899dup, NC_000020.11:g.44717890_44717899dup, NC_000020.11:g.44717899_44717900insAAAAAAAAAAAAAAA, NC_000020.10:g.43346537_43346540del, NC_000020.10:g.43346538_43346540del, NC_000020.10:g.43346539_43346540del, NC_000020.10:g.43346540del, NC_000020.10:g.43346540dup, NC_000020.10:g.43346539_43346540dup, NC_000020.10:g.43346538_43346540dup, NC_000020.10:g.43346531_43346540dup, NC_000020.10:g.43346540_43346541insAAAAAAAAAAAAAAA

Select item 14914759096.

rs1491475909 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 20:44712342 (GRCh38)
20:43340984 (GRCh37)
Canonical SPDI:: NC_000020.11:44712342:G:GG
Gene:: KCNK15-AS1 (Varview), LOC124904911 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000020.11:g.44712343dup, NC_000020.10:g.43340984dup

Select item 14914604777.

rs1491460477 has merged into rs59320118 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:44721522 (GRCh38)
20:43350163 (GRCh37)
Canonical SPDI:: NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:44721511:AAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CCN5 (Varview), KCNK15-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
AA=0.2893/1449 (1000Genomes)
HGVS:: NC_000020.11:g.44721522_44721537del, NC_000020.11:g.44721524_44721537del, NC_000020.11:g.44721525_44721537del, NC_000020.11:g.44721527_44721537del, NC_000020.11:g.44721528_44721537del, NC_000020.11:g.44721529_44721537del, NC_000020.11:g.44721530_44721537del, NC_000020.11:g.44721531_44721537del, NC_000020.11:g.44721532_44721537del, NC_000020.11:g.44721533_44721537del, NC_000020.11:g.44721534_44721537del, NC_000020.11:g.44721535_44721537del, NC_000020.11:g.44721536_44721537del, NC_000020.11:g.44721537del, NC_000020.11:g.44721537dup, NC_000020.11:g.44721536_44721537dup, NC_000020.11:g.44721512_44721537dup, NC_000020.10:g.43350163_43350178del, NC_000020.10:g.43350165_43350178del, NC_000020.10:g.43350166_43350178del, NC_000020.10:g.43350168_43350178del, NC_000020.10:g.43350169_43350178del, NC_000020.10:g.43350170_43350178del, NC_000020.10:g.43350171_43350178del, NC_000020.10:g.43350172_43350178del, NC_000020.10:g.43350173_43350178del, NC_000020.10:g.43350174_43350178del, NC_000020.10:g.43350175_43350178del, NC_000020.10:g.43350176_43350178del, NC_000020.10:g.43350177_43350178del, NC_000020.10:g.43350178del, NC_000020.10:g.43350178dup, NC_000020.10:g.43350177_43350178dup, NC_000020.10:g.43350153_43350178dup

Select item 14914190648.

rs1491419064 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 20:44712295 (GRCh38)
20:43340936 (GRCh37)
Canonical SPDI:: NC_000020.11:44712293:AGA:A
Gene:: KCNK15-AS1 (Varview), LOC124904911 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.44712295_44712296del, NC_000020.10:g.43340936_43340937del

Select item 14914165429.

rs1491416542 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAAAGAAAGAAAGAA [Show Flanks]
Chromosome:: 20:44712284 (GRCh38)
20:43340926 (GRCh37)
Canonical SPDI:: NC_000020.11:44712284:AAGAAAGAAAGAAAGAA:AAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAA
Gene:: KCNK15-AS1 (Varview), LOC124904911 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAGAAAGAAAGAAAGAAGAAAGAAAGAAAGAA=0.00025/3 (ALFA)
AAGAAAGAAAGAAAG=0.01362/788 (GnomAD)
HGVS:: NC_000020.11:g.44712287_44712301dup, NC_000020.10:g.43340928_43340942dup

Select item 149133030110.

rs1491330301 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAGAAGGAAAGA,AGGAAAGA [Show Flanks]
Chromosome:: 20:44712338 (GRCh38)
20:43340980 (GRCh37)
Canonical SPDI:: NC_000020.11:44712338:GAAAGA:GAAAGAAAGAAGGAAAGA,NC_000020.11:44712338:GAAAGA:GAAAGAAGGAAAGA
Gene:: KCNK15-AS1 (Varview), LOC124904911 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAAAGAAGGAAAGA=0./0 (ALFA)
GAAAGAAG=0.000056/7 (GnomAD)
HGVS:: NC_000020.11:g.44712339_44712344GAAA[2]GAAGGAAAGA[1], NC_000020.11:g.44712344_44712345insAGGAAAGA, NC_000020.10:g.43340980_43340985GAAA[2]GAAGGAAAGA[1], NC_000020.10:g.43340985_43340986insAGGAAAGA

Select item 149129497611.

rs1491294976 has merged into rs200165993 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 20:44740871 (GRCh38)
20:43369512 (GRCh37)
Canonical SPDI:: NC_000020.11:44740858:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:44740858:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:44740858:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:44740858:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:44740858:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:44740858:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:44740858:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: KCNK15-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.3369/1687 (1000Genomes)
-=0.3457/195 (NorthernSweden)
HGVS:: NC_000020.11:g.44740871_44740874del, NC_000020.11:g.44740872_44740874del, NC_000020.11:g.44740873_44740874del, NC_000020.11:g.44740874del, NC_000020.11:g.44740874dup, NC_000020.11:g.44740873_44740874dup, NC_000020.11:g.44740869_44740874dup, NC_000020.10:g.43369512_43369515del, NC_000020.10:g.43369513_43369515del, NC_000020.10:g.43369514_43369515del, NC_000020.10:g.43369515del, NC_000020.10:g.43369515dup, NC_000020.10:g.43369514_43369515dup, NC_000020.10:g.43369510_43369515dup

Select item 149124766312.

rs1491247663 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 20:44712339 (GRCh38)
20:43340980 (GRCh37)
Canonical SPDI:: NC_000020.11:44712337:AGA:A
Gene:: KCNK15-AS1 (Varview), LOC124904911 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000020.11:g.44712339_44712340del, NC_000020.10:g.43340980_43340981del

Select item 149122555113.

rs1491225551 has merged into rs1280750623 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 20:44712341 (GRCh38)
20:43340982 (GRCh37)
Canonical SPDI:: NC_000020.11:44712339:AAA:A,NC_000020.11:44712339:AAA:AA,NC_000020.11:44712339:AAA:AAAA,NC_000020.11:44712339:AAA:AAAAA
Gene:: KCNK15-AS1 (Varview), LOC124904911 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
HGVS:: NC_000020.11:g.44712341_44712342del, NC_000020.11:g.44712342del, NC_000020.11:g.44712342dup, NC_000020.11:g.44712341_44712342dup, NC_000020.10:g.43340982_43340983del, NC_000020.10:g.43340983del, NC_000020.10:g.43340983dup, NC_000020.10:g.43340982_43340983dup

Select item 149119657914.

rs1491196579 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAAG [Show Flanks]
Chromosome:: 20:44712340 (GRCh38)
20:43340982 (GRCh37)
Canonical SPDI:: NC_000020.11:44712340:AAG:AAGGAAG
Gene:: KCNK15-AS1 (Varview), LOC124904911 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAGGAAG=0.000084/1 (ALFA)
AAGG=0.000336/44 (GnomAD)
HGVS:: NC_000020.11:g.44712343_44712344insGAAG, NC_000020.10:g.43340984_43340985insGAAG

Select item 149116200915.

rs1491162009 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAAAAAA [Show Flanks]
Chromosome:: 20:44731455 (GRCh38)
20:43360097 (GRCh37)
Canonical SPDI:: NC_000020.11:44731455:AAAAAA:AAAAAAGAAAAAA
Gene:: KCNK15-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAGAAAAAA=0.00612/86 (ALFA)
AAAAAAG=0.0705/1051 (GnomAD)
HGVS:: NC_000020.11:g.44731456_44731461A[6]GAAAAAA[1], NC_000020.10:g.43360097_43360102A[6]GAAAAAA[1]

Select item 149115404916.

rs1491154049 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A [Show Flanks]
Chromosome:: 20:44712285 (GRCh38)
20:43340926 (GRCh37)
Canonical SPDI:: NC_000020.11:44712283:AAA:A,NC_000020.11:44712283:AAA:AA
Gene:: KCNK15-AS1 (Varview), LOC124904911 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.00003/1 (GnomAD)
HGVS:: NC_000020.11:g.44712285_44712286del, NC_000020.11:g.44712286del, NC_000020.10:g.43340926_43340927del, NC_000020.10:g.43340927del

Select item 149114370717.

rs1491143707 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 20:44712290 (GRCh38)
20:43340932 (GRCh37)
Canonical SPDI:: NC_000020.11:44712290:G:GG
Gene:: KCNK15-AS1 (Varview), LOC124904911 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0.00177/20 (ALFA)
G=0.00011/9 (GnomAD)
HGVS:: NC_000020.11:g.44712291dup, NC_000020.10:g.43340932dup

Select item 149102005618.

rs1491020056 has merged into rs35482804 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT [Show Flanks]
Chromosome:: 20:44728168 (GRCh38)
20:43356809 (GRCh37)
Canonical SPDI:: NC_000020.11:44728154:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:44728154:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000020.11:44728154:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000020.11:44728154:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000020.11:44728154:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: CCN5 (Varview), KCNK15-AS1 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
T=0.4008/2007 (1000Genomes)
HGVS:: NC_000020.11:g.44728168_44728169del, NC_000020.11:g.44728169del, NC_000020.11:g.44728169dup, NC_000020.11:g.44728168_44728169dup, NC_000020.11:g.44728167_44728169dup, NC_000020.10:g.43356809_43356810del, NC_000020.10:g.43356810del, NC_000020.10:g.43356810dup, NC_000020.10:g.43356809_43356810dup, NC_000020.10:g.43356808_43356810dup

Select item 149099426919.

rs1490994269 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:44720042 (GRCh38)
20:43348683 (GRCh37)
Canonical SPDI:: NC_000020.11:44720041:T:C
Gene:: CCN5 (Varview), KCNK15-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000020.11:g.44720042T>C, NC_000020.10:g.43348683T>C, NM_003881.4:c.206T>C, NM_003881.3:c.206T>C, NM_003881.2:c.206T>C, NM_001323370.2:c.206T>C, NM_001323370.1:c.206T>C, NM_001323369.2:c.206T>C, NM_001323369.1:c.206T>C, XM_047440578.1:c.206T>C, XM_047440579.1:c.206T>C, NP_003872.1:p.Val69Ala, NP_001310299.1:p.Val69Ala, NP_001310298.1:p.Val69Ala, XP_047296534.1:p.Val69Ala, XP_047296535.1:p.Val69Ala

Select item 149098185720.

rs1490981857 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 20:44732950 (GRCh38)
20:43361591 (GRCh37)
Canonical SPDI:: NC_000020.11:44732949:G:A,NC_000020.11:44732949:G:C
Gene:: KCNK15-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000020.11:g.44732950G>A, NC_000020.11:g.44732950G>C, NC_000020.10:g.43361591G>A, NC_000020.10:g.43361591G>C

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