SNP Links for Gene (Select 10507) - SNP

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Select item 14915749731.

rs1491574973 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 9:89446909 (GRCh38)
9:92061825 (GRCh37)
Canonical SPDI:: NC_000009.12:89446909:T:TT
Gene:: SEMA4D (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000042/11 (TOPMED)
T=0.000043/6 (GnomAD)
HGVS:: NC_000009.12:g.89446910dup, NC_000009.11:g.92061825dup

Select item 14915695742.

rs1491569574 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 9:89371712 (GRCh38)
9:91986627 (GRCh37)
Canonical SPDI:: NC_000009.12:89371711:GGGG:GGG,NC_000009.12:89371711:GGGG:GGGGG
Gene:: SEMA4D (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GGGGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.89371715del, NC_000009.12:g.89371715dup, NC_000009.11:g.91986630del, NC_000009.11:g.91986630dup

Select item 14915151873.

rs1491515187 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 9:89453875 (GRCh38)
9:92068790 (GRCh37)
Canonical SPDI:: NC_000009.12:89453874:TG:
Gene:: SEMA4D (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000009.12:g.89453875_89453876del, NC_000009.11:g.92068790_92068791del

Select item 14915119404.

rs1491511940 has merged into rs61696689 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:89461710 (GRCh38)
9:92076625 (GRCh37)
Canonical SPDI:: NC_000009.12:89461700:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000009.12:89461700:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:89461700:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:89461700:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:89461700:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:89461700:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:89461700:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:89461700:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:89461700:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:89461700:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:89461700:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:89461700:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:89461700:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:89461700:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:89461700:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:89461700:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:89461700:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:89461700:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:89461700:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:89461700:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:89461700:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:89461700:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:89461700:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:89461700:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:89461700:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:89461700:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:89461700:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:89461700:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:89461700:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:89461700:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:89461700:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:89461700:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:89461700:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:89461700:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:89461700:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:89461700:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:89461700:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:89461700:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:89461700:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SEMA4D (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.000038/10 (TOPMED)
TTTTTTTTTTTT=0.285677/1101 (ALSPAC)
TTTTTTTTTTTT=0.298813/1108 (TWINSUK)
HGVS:: NC_000009.12:g.89461710_89461719del, NC_000009.12:g.89461711_89461719del, NC_000009.12:g.89461712_89461719del, NC_000009.12:g.89461713_89461719del, NC_000009.12:g.89461714_89461719del, NC_000009.12:g.89461715_89461719del, NC_000009.12:g.89461716_89461719del, NC_000009.12:g.89461717_89461719del, NC_000009.12:g.89461718_89461719del, NC_000009.12:g.89461719del, NC_000009.12:g.89461719dup, NC_000009.12:g.89461718_89461719dup, NC_000009.12:g.89461717_89461719dup, NC_000009.12:g.89461716_89461719dup, NC_000009.12:g.89461715_89461719dup, NC_000009.12:g.89461714_89461719dup, NC_000009.12:g.89461713_89461719dup, NC_000009.12:g.89461712_89461719dup, NC_000009.12:g.89461711_89461719dup, NC_000009.12:g.89461710_89461719dup, NC_000009.12:g.89461709_89461719dup, NC_000009.12:g.89461708_89461719dup, NC_000009.12:g.89461707_89461719dup, NC_000009.12:g.89461706_89461719dup, NC_000009.12:g.89461705_89461719dup, NC_000009.12:g.89461704_89461719dup, NC_000009.12:g.89461703_89461719dup, NC_000009.12:g.89461702_89461719dup, NC_000009.12:g.89461701_89461719dup, NC_000009.12:g.89461719_89461720insTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.89461719_89461720insTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.89461719_89461720insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.89461719_89461720insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.89461719_89461720insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.89461719_89461720insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.89461719_89461720insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.89461719_89461720insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.89461719_89461720insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.12:g.89461719_89461720insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.92076625_92076634del, NC_000009.11:g.92076626_92076634del, NC_000009.11:g.92076627_92076634del, NC_000009.11:g.92076628_92076634del, NC_000009.11:g.92076629_92076634del, NC_000009.11:g.92076630_92076634del, NC_000009.11:g.92076631_92076634del, NC_000009.11:g.92076632_92076634del, NC_000009.11:g.92076633_92076634del, NC_000009.11:g.92076634del, NC_000009.11:g.92076634dup, NC_000009.11:g.92076633_92076634dup, NC_000009.11:g.92076632_92076634dup, NC_000009.11:g.92076631_92076634dup, NC_000009.11:g.92076630_92076634dup, NC_000009.11:g.92076629_92076634dup, NC_000009.11:g.92076628_92076634dup, NC_000009.11:g.92076627_92076634dup, NC_000009.11:g.92076626_92076634dup, NC_000009.11:g.92076625_92076634dup, NC_000009.11:g.92076624_92076634dup, NC_000009.11:g.92076623_92076634dup, NC_000009.11:g.92076622_92076634dup, NC_000009.11:g.92076621_92076634dup, NC_000009.11:g.92076620_92076634dup, NC_000009.11:g.92076619_92076634dup, NC_000009.11:g.92076618_92076634dup, NC_000009.11:g.92076617_92076634dup, NC_000009.11:g.92076616_92076634dup, NC_000009.11:g.92076634_92076635insTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.92076634_92076635insTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.92076634_92076635insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.92076634_92076635insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.92076634_92076635insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.92076634_92076635insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.92076634_92076635insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.92076634_92076635insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.92076634_92076635insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.92076634_92076635insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14915099355.

rs1491509935 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 9:89371266 (GRCh38)
9:91986181 (GRCh37)
Canonical SPDI:: NC_000009.12:89371265:AT:
Gene:: SEMA4D (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000009.12:g.89371266_89371267del, NC_000009.11:g.91986181_91986182del

Select item 14915038546.

rs1491503854 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 9:89457242 (GRCh38)
9:92072157 (GRCh37)
Canonical SPDI:: NC_000009.12:89457241:AG:
Gene:: SEMA4D (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000009.12:g.89457242_89457243del, NC_000009.11:g.92072157_92072158del

Select item 14914889307.

rs1491488930 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTG>-,TG [Show Flanks]
Chromosome:: 9:89371442 (GRCh38)
9:91986357 (GRCh37)
Canonical SPDI:: NC_000009.12:89371440:GTGTG:G,NC_000009.12:89371440:GTGTG:GTG
Gene:: SEMA4D (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTG=0./0 (ALFA)
HGVS:: NC_000009.12:g.89371442_89371445del, NC_000009.12:g.89371442TG[1], NC_000009.11:g.91986357_91986360del, NC_000009.11:g.91986357TG[1]

Select item 14914857518.

rs1491485751 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 9:89370768 (GRCh38)
9:91985683 (GRCh37)
Canonical SPDI:: NC_000009.12:89370767:AT:
Gene:: SEMA4D (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000015/2 (GnomAD)
-=0.000049/1 (TOMMO)
HGVS:: NC_000009.12:g.89370768_89370769del, NC_000009.11:g.91985683_91985684del

Select item 14914742569.

rs1491474256 has merged into rs1309495450 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTG>-,TG,TGTGTG [Show Flanks]
Chromosome:: 9:89370775 (GRCh38)
9:91985690 (GRCh37)
Canonical SPDI:: NC_000009.12:89370768:TGTGTGTGTG:TGTGTG,NC_000009.12:89370768:TGTGTGTGTG:TGTGTGTG,NC_000009.12:89370768:TGTGTGTGTG:TGTGTGTGTGTG
Gene:: SEMA4D (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTG=0./0 (ALFA)
-=0.0001/2 (TOMMO)
HGVS:: NC_000009.12:g.89370769TG[3], NC_000009.12:g.89370769TG[4], NC_000009.12:g.89370769TG[6], NC_000009.11:g.91985684TG[3], NC_000009.11:g.91985684TG[4], NC_000009.11:g.91985684TG[6]

Select item 149145102410.

rs1491451024 [Homo sapiens]

Variant type:: INS
Alleles:: ->GA,GAA,GAAA,GAAAA,GAAAAA,GAAAAAA,GAAAAAAA,GAAAAAAAA,GAAAAAAAAA,GAAAAAAAAAA,GAAAAAAAAAAA,GAAAAAAAAAAAA,GAAAAAAAAAAAAA,GAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,GAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAA,GGA,GGAAA,GGAAAA,GGAAAAA,GGAAAAAAAAA,GGAAAAAAAAAAAAA,GGAAAAAAAAAAAAAA,GGAAAAAAAAAAAAAAAAA,GGAAAAAAAAAAAAAAAAAA,GGAAAAAAAAAAAAAAAAAAA,GGAAAAAAAAAAAAAAAAAAAAA,GGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,GGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,GGGAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:89450660 (GRCh38)
9:92065576 (GRCh37)
Canonical SPDI:: NC_000009.12:89450660::GA,NC_000009.12:89450660::GAA,NC_000009.12:89450660::GAAA,NC_000009.12:89450660::GAAAA,NC_000009.12:89450660::GAAAAA,NC_000009.12:89450660::GAAAAAA,NC_000009.12:89450660::GAAAAAAA,NC_000009.12:89450660::GAAAAAAAA,NC_000009.12:89450660::GAAAAAAAAA,NC_000009.12:89450660::GAAAAAAAAAA,NC_000009.12:89450660::GAAAAAAAAAAA,NC_000009.12:89450660::GAAAAAAAAAAAA,NC_000009.12:89450660::GAAAAAAAAAAAAA,NC_000009.12:89450660::GAAAAAAAAAAAAAA,NC_000009.12:89450660::GAAAAAAAAAAAAAAA,NC_000009.12:89450660::GAAAAAAAAAAAAAAAA,NC_000009.12:89450660::GAAAAAAAAAAAAAAAAA,NC_000009.12:89450660::GAAAAAAAAAAAAAAAAAA,NC_000009.12:89450660::GAAAAAAAAAAAAAAAAAAA,NC_000009.12:89450660::GAAAAAAAAAAAAAAAAAAAA,NC_000009.12:89450660::GAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:89450660::GAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:89450660::GAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:89450660::GAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:89450660::GAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:89450660::GAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:89450660::GAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:89450660::GAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:89450660::GAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:89450660::GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:89450660::GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:89450660::GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:89450660::GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:89450660::GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:89450660::GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:89450660::GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:89450660::GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:89450660::GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:89450660::GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:89450660::GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:89450660::GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:89450660::GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:89450660::GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:89450660::GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:89450660::GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:89450660::GAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:89450660::GGA,NC_000009.12:89450660::GGAAA,NC_000009.12:89450660::GGAAAA,NC_000009.12:89450660::GGAAAAA,NC_000009.12:89450660::GGAAAAAAAAA,NC_000009.12:89450660::GGAAAAAAAAAAAAA,NC_000009.12:89450660::GGAAAAAAAAAAAAAA,NC_000009.12:89450660::GGAAAAAAAAAAAAAAAAA,NC_000009.12:89450660::GGAAAAAAAAAAAAAAAAAA,NC_000009.12:89450660::GGAAAAAAAAAAAAAAAAAAA,NC_000009.12:89450660::GGAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:89450660::GGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:89450660::GGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:89450660::GGGAAAAAAAAAAAAAA
Gene:: SEMA4D (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAA=0./0 (ALFA)
HGVS:: NC_000009.12:g.89450660_89450661insGA, NC_000009.12:g.89450660_89450661insGAA, NC_000009.12:g.89450660_89450661insGAAA, NC_000009.12:g.89450660_89450661insGAAAA, NC_000009.12:g.89450660_89450661insGAAAAA, NC_000009.12:g.89450660_89450661insGAAAAAA, NC_000009.12:g.89450660_89450661insGAAAAAAA, NC_000009.12:g.89450660_89450661insGAAAAAAAA, NC_000009.12:g.89450660_89450661insGAAAAAAAAA, NC_000009.12:g.89450660_89450661insGAAAAAAAAAA, NC_000009.12:g.89450660_89450661insGAAAAAAAAAAA, NC_000009.12:g.89450660_89450661insGAAAAAAAAAAAA, NC_000009.12:g.89450660_89450661insGAAAAAAAAAAAAA, NC_000009.12:g.89450660_89450661insGAAAAAAAAAAAAAA, NC_000009.12:g.89450660_89450661insGAAAAAAAAAAAAAAA, NC_000009.12:g.89450660_89450661insGAAAAAAAAAAAAAAAA, NC_000009.12:g.89450660_89450661insGAAAAAAAAAAAAAAAAA, NC_000009.12:g.89450660_89450661insGAAAAAAAAAAAAAAAAAA, NC_000009.12:g.89450660_89450661insGAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.89450660_89450661insGAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.89450660_89450661insGAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.89450660_89450661insGAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.89450660_89450661insGAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.89450660_89450661insGAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.89450660_89450661insGAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.89450660_89450661insGAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.89450660_89450661insGAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.89450660_89450661insGAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.89450660_89450661insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.89450660_89450661insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.89450660_89450661insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.89450660_89450661insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.89450660_89450661insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.89450660_89450661insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.89450660_89450661insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.89450660_89450661insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.89450660_89450661insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.89450660_89450661insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.89450660_89450661insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.89450660_89450661insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.89450660_89450661insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.89450660_89450661insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.89450660_89450661insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.89450660_89450661insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.89450660_89450661insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.89450660_89450661insGAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.89450660_89450661insGGA, NC_000009.12:g.89450660_89450661insGGAAA, NC_000009.12:g.89450660_89450661insGGAAAA, NC_000009.12:g.89450660_89450661insGGAAAAA, NC_000009.12:g.89450660_89450661insGGAAAAAAAAA, NC_000009.12:g.89450660_89450661insGGAAAAAAAAAAAAA, NC_000009.12:g.89450660_89450661insGGAAAAAAAAAAAAAA, NC_000009.12:g.89450660_89450661insGGAAAAAAAAAAAAAAAAA, NC_000009.12:g.89450660_89450661insGGAAAAAAAAAAAAAAAAAA, NC_000009.12:g.89450660_89450661insGGAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.89450660_89450661insGGAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.89450660_89450661insGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.89450660_89450661insGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.89450660_89450661insGGGAAAAAAAAAAAAAA, NC_000009.11:g.92065575_92065576insGA, NC_000009.11:g.92065575_92065576insGAA, NC_000009.11:g.92065575_92065576insGAAA, NC_000009.11:g.92065575_92065576insGAAAA, NC_000009.11:g.92065575_92065576insGAAAAA, NC_000009.11:g.92065575_92065576insGAAAAAA, NC_000009.11:g.92065575_92065576insGAAAAAAA, NC_000009.11:g.92065575_92065576insGAAAAAAAA, NC_000009.11:g.92065575_92065576insGAAAAAAAAA, NC_000009.11:g.92065575_92065576insGAAAAAAAAAA, NC_000009.11:g.92065575_92065576insGAAAAAAAAAAA, NC_000009.11:g.92065575_92065576insGAAAAAAAAAAAA, NC_000009.11:g.92065575_92065576insGAAAAAAAAAAAAA, NC_000009.11:g.92065575_92065576insGAAAAAAAAAAAAAA, NC_000009.11:g.92065575_92065576insGAAAAAAAAAAAAAAA, NC_000009.11:g.92065575_92065576insGAAAAAAAAAAAAAAAA, NC_000009.11:g.92065575_92065576insGAAAAAAAAAAAAAAAAA, NC_000009.11:g.92065575_92065576insGAAAAAAAAAAAAAAAAAA, NC_000009.11:g.92065575_92065576insGAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.92065575_92065576insGAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.92065575_92065576insGAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.92065575_92065576insGAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.92065575_92065576insGAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.92065575_92065576insGAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.92065575_92065576insGAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.92065575_92065576insGAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.92065575_92065576insGAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.92065575_92065576insGAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.92065575_92065576insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.92065575_92065576insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.92065575_92065576insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.92065575_92065576insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.92065575_92065576insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.92065575_92065576insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.92065575_92065576insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.92065575_92065576insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.92065575_92065576insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.92065575_92065576insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.92065575_92065576insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.92065575_92065576insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.92065575_92065576insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.92065575_92065576insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.92065575_92065576insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.92065575_92065576insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.92065575_92065576insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.92065575_92065576insGAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.92065575_92065576insGGA, NC_000009.11:g.92065575_92065576insGGAAA, NC_000009.11:g.92065575_92065576insGGAAAA, NC_000009.11:g.92065575_92065576insGGAAAAA, NC_000009.11:g.92065575_92065576insGGAAAAAAAAA, NC_000009.11:g.92065575_92065576insGGAAAAAAAAAAAAA, NC_000009.11:g.92065575_92065576insGGAAAAAAAAAAAAAA, NC_000009.11:g.92065575_92065576insGGAAAAAAAAAAAAAAAAA, NC_000009.11:g.92065575_92065576insGGAAAAAAAAAAAAAAAAAA, NC_000009.11:g.92065575_92065576insGGAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.92065575_92065576insGGAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.92065575_92065576insGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.92065575_92065576insGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.92065575_92065576insGGGAAAAAAAAAAAAAA, NG_005882.5:g.1324_1325insGA, NG_005882.5:g.1324_1325insGAA, NG_005882.5:g.1324_1325insGAAA, NG_005882.5:g.1324_1325insGAAAA, NG_005882.5:g.1324_1325insGAAAAA, NG_005882.5:g.1324_1325insGAAAAAA, NG_005882.5:g.1324_1325insGAAAAAAA, NG_005882.5:g.1324_1325insGAAAAAAAA, NG_005882.5:g.1324_1325insGAAAAAAAAA, NG_005882.5:g.1324_1325insGAAAAAAAAAA, NG_005882.5:g.1324_1325insGAAAAAAAAAAA, NG_005882.5:g.1324_1325insGAAAAAAAAAAAA, NG_005882.5:g.1324_1325insGAAAAAAAAAAAAA, NG_005882.5:g.1324_1325insGAAAAAAAAAAAAAA, NG_005882.5:g.1324_1325insGAAAAAAAAAAAAAAA, NG_005882.5:g.1324_1325insGAAAAAAAAAAAAAAAA, NG_005882.5:g.1324_1325insGAAAAAAAAAAAAAAAAA, NG_005882.5:g.1324_1325insGAAAAAAAAAAAAAAAAAA, NG_005882.5:g.1324_1325insGAAAAAAAAAAAAAAAAAAA, NG_005882.5:g.1324_1325insGAAAAAAAAAAAAAAAAAAAA, NG_005882.5:g.1324_1325insGAAAAAAAAAAAAAAAAAAAAA, NG_005882.5:g.1324_1325insGAAAAAAAAAAAAAAAAAAAAAA, NG_005882.5:g.1324_1325insGAAAAAAAAAAAAAAAAAAAAAAA, NG_005882.5:g.1324_1325insGAAAAAAAAAAAAAAAAAAAAAAAA, NG_005882.5:g.1324_1325insGAAAAAAAAAAAAAAAAAAAAAAAAA, NG_005882.5:g.1324_1325insGAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_005882.5:g.1324_1325insGAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_005882.5:g.1324_1325insGAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_005882.5:g.1324_1325insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_005882.5:g.1324_1325insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_005882.5:g.1324_1325insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_005882.5:g.1324_1325insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_005882.5:g.1324_1325insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_005882.5:g.1324_1325insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_005882.5:g.1324_1325insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_005882.5:g.1324_1325insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_005882.5:g.1324_1325insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_005882.5:g.1324_1325insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_005882.5:g.1324_1325insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_005882.5:g.1324_1325insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_005882.5:g.1324_1325insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_005882.5:g.1324_1325insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_005882.5:g.1324_1325insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_005882.5:g.1324_1325insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_005882.5:g.1324_1325insGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_005882.5:g.1324_1325insGAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_005882.5:g.1324_1325insGGA, NG_005882.5:g.1324_1325insGGAAA, NG_005882.5:g.1324_1325insGGAAAA, NG_005882.5:g.1324_1325insGGAAAAA, NG_005882.5:g.1324_1325insGGAAAAAAAAA, NG_005882.5:g.1324_1325insGGAAAAAAAAAAAAA, NG_005882.5:g.1324_1325insGGAAAAAAAAAAAAAA, NG_005882.5:g.1324_1325insGGAAAAAAAAAAAAAAAAA, NG_005882.5:g.1324_1325insGGAAAAAAAAAAAAAAAAAA, NG_005882.5:g.1324_1325insGGAAAAAAAAAAAAAAAAAAA, NG_005882.5:g.1324_1325insGGAAAAAAAAAAAAAAAAAAAAA, NG_005882.5:g.1324_1325insGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_005882.5:g.1324_1325insGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_005882.5:g.1324_1325insGGGAAAAAAAAAAAAAA

Select item 149143749611.

rs1491437496 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 9:89364632 (GRCh38)
9:91979547 (GRCh37)
Canonical SPDI:: NC_000009.12:89364629:CTCT:CT
Gene:: SEMA4D (Varview), SECISBP2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,non_coding_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTCT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.89364630CT[1], NC_000009.11:g.91979545CT[1], XM_011519000.3:c.*3835CT[1], XM_047423854.1:c.*3838CT[1], XM_047423856.1:c.*3838CT[1], XM_047423857.1:c.*3835CT[1], XM_047423855.1:c.*3838CT[1], XM_047423859.1:c.*3835CT[1], XR_007061347.1:n.5064CT[1], XR_007061346.1:n.5004CT[1], XR_007061350.1:n.4900CT[1], NM_182635.1:c.-646AG[1]

Select item 149143315312.

rs1491433153 has merged into rs111818272 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGT>-,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 9:89484998 (GRCh38)
9:92099913 (GRCh37)
Canonical SPDI:: NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGT,NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000009.12:89484988:TGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: SEMA4D (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGT=0./0 (ALFA)
-=0.1343/544 (1000Genomes)
HGVS:: NC_000009.12:g.89484990GT[4], NC_000009.12:g.89484990GT[7], NC_000009.12:g.89484990GT[8], NC_000009.12:g.89484990GT[9], NC_000009.12:g.89484990GT[10], NC_000009.12:g.89484990GT[12], NC_000009.12:g.89484990GT[13], NC_000009.12:g.89484990GT[14], NC_000009.12:g.89484990GT[15], NC_000009.12:g.89484990GT[16], NC_000009.11:g.92099905GT[4], NC_000009.11:g.92099905GT[7], NC_000009.11:g.92099905GT[8], NC_000009.11:g.92099905GT[9], NC_000009.11:g.92099905GT[10], NC_000009.11:g.92099905GT[12], NC_000009.11:g.92099905GT[13], NC_000009.11:g.92099905GT[14], NC_000009.11:g.92099905GT[15], NC_000009.11:g.92099905GT[16]

Select item 149140343813.

rs1491403438 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 9:89453875 (GRCh38)
9:92068791 (GRCh37)
Canonical SPDI:: NC_000009.12:89453875:G:GG
Gene:: SEMA4D (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.89453876dup, NC_000009.11:g.92068791dup

Select item 149140313714.

rs1491403137 has merged into rs540076174 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGGG>-,GGG,GGGG,GGGGGG,GGGGGGG [Show Flanks]
Chromosome:: 9:89371566 (GRCh38)
9:91986481 (GRCh37)
Canonical SPDI:: NC_000009.12:89371561:GGGGGGGGG:GGGG,NC_000009.12:89371561:GGGGGGGGG:GGGGGGG,NC_000009.12:89371561:GGGGGGGGG:GGGGGGGG,NC_000009.12:89371561:GGGGGGGGG:GGGGGGGGGG,NC_000009.12:89371561:GGGGGGGGG:GGGGGGGGGGG
Gene:: SEMA4D (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGG=0./0 (ALFA)
-=0.225/9 (GENOME_DK)
-=0.3425/1715 (1000Genomes)
HGVS:: NC_000009.12:g.89371566_89371570del, NC_000009.12:g.89371569_89371570del, NC_000009.12:g.89371570del, NC_000009.12:g.89371570dup, NC_000009.12:g.89371569_89371570dup, NC_000009.11:g.91986481_91986485del, NC_000009.11:g.91986484_91986485del, NC_000009.11:g.91986485del, NC_000009.11:g.91986485dup, NC_000009.11:g.91986484_91986485dup

Select item 149138494915.

rs1491384949 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 9:89372231 (GRCh38)
9:91987146 (GRCh37)
Canonical SPDI:: NC_000009.12:89372230:TG:
Gene:: SEMA4D (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00021/3 (TOMMO)
HGVS:: NC_000009.12:g.89372231_89372232del, NC_000009.11:g.91987146_91987147del

Select item 149133933416.

rs1491339334 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 9:89371653 (GRCh38)
9:91986569 (GRCh37)
Canonical SPDI:: NC_000009.12:89371653:GGGG:GGGGG
Gene:: SEMA4D (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GGGGG=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.89371657dup, NC_000009.11:g.91986572dup

Select item 149131164417.

rs1491311644 has merged into rs772307049 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTG>-,TG,TGTGTG [Show Flanks]
Chromosome:: 9:89370118 (GRCh38)
9:91985033 (GRCh37)
Canonical SPDI:: NC_000009.12:89370108:GTGTGTGTGTGTG:GTGTGTGTG,NC_000009.12:89370108:GTGTGTGTGTGTG:GTGTGTGTGTG,NC_000009.12:89370108:GTGTGTGTGTGTG:GTGTGTGTGTGTGTG
Gene:: SEMA4D (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTG=0./0 (ALFA)
-=0.00023/4 (TOMMO)
-=0.00944/35 (TWINSUK)
-=0.01194/46 (ALSPAC)
HGVS:: NC_000009.12:g.89370110TG[4], NC_000009.12:g.89370110TG[5], NC_000009.12:g.89370110TG[7], NC_000009.11:g.91985025TG[4], NC_000009.11:g.91985025TG[5], NC_000009.11:g.91985025TG[7]

Select item 149130631818.

rs1491306318 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GG [Show Flanks]
Chromosome:: 9:89372231 (GRCh38)
9:91987147 (GRCh37)
Canonical SPDI:: NC_000009.12:89372231:GGGG:GGGGGG
Gene:: SEMA4D (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GGGGGG=0.00008/1 (ALFA)
HGVS:: NC_000009.12:g.89372234_89372235dup, NC_000009.11:g.91987149_91987150dup

Select item 149128937019.

rs1491289370 [Homo sapiens]

Variant type:: DELINS
Alleles:: TG>-,TGTG [Show Flanks]
Chromosome:: 9:89371273 (GRCh38)
9:91986188 (GRCh37)
Canonical SPDI:: NC_000009.12:89371266:TGTGTGTG:TGTGTG,NC_000009.12:89371266:TGTGTGTG:TGTGTGTGTG
Gene:: SEMA4D (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TGTGTGTGTG=0./0 (ALFA)
HGVS:: NC_000009.12:g.89371267TG[3], NC_000009.12:g.89371267TG[5], NC_000009.11:g.91986182TG[3], NC_000009.11:g.91986182TG[5]

Select item 149127332120.

rs1491273321 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 9:89446909 (GRCh38)
9:92061824 (GRCh37)
Canonical SPDI:: NC_000009.12:89446908:CT:
Gene:: SEMA4D (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000009.12:g.89446909_89446910del, NC_000009.11:g.92061824_92061825del

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