SNP Links for Gene (Select 440704) - SNP

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Select item 14915819411.

rs1491581941 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:190643986 (GRCh38)
1:190613117 (GRCh37)
Canonical SPDI:: NC_000001.11:190643986::A
Gene:: LINC01720 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000001.11:g.190643986_190643987insA, NC_000001.10:g.190613116_190613117insA

Select item 14915571042.

rs1491557104 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:190624845 (GRCh38)
1:190593976 (GRCh37)
Canonical SPDI:: NC_000001.11:190624845::C
Gene:: LINC01720 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.190624845_190624846insC, NC_000001.10:g.190593975_190593976insC

Select item 14915531183.

rs1491553118 has merged into rs747392087 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,TT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:190656750 (GRCh38)
1:190625880 (GRCh37)
Canonical SPDI:: NC_000001.11:190656742:TTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000001.11:190656742:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:190656742:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:190656742:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:190656742:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:190656742:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:190656742:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:190656742:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:190656742:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:190656742:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190656742:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190656742:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190656742:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190656742:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190656742:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190656742:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190656742:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190656742:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190656742:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190656742:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190656742:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190656742:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190656742:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190656742:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190656742:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190656742:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LINC01720 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.2/8 (GENOME_DK)
HGVS:: NC_000001.11:g.190656750_190656762del, NC_000001.11:g.190656752_190656762del, NC_000001.11:g.190656756_190656762del, NC_000001.11:g.190656757_190656762del, NC_000001.11:g.190656758_190656762del, NC_000001.11:g.190656759_190656762del, NC_000001.11:g.190656760_190656762del, NC_000001.11:g.190656761_190656762del, NC_000001.11:g.190656762del, NC_000001.11:g.190656762dup, NC_000001.11:g.190656761_190656762dup, NC_000001.11:g.190656760_190656762dup, NC_000001.11:g.190656759_190656762dup, NC_000001.11:g.190656758_190656762dup, NC_000001.11:g.190656756_190656762dup, NC_000001.11:g.190656755_190656762dup, NC_000001.11:g.190656754_190656762dup, NC_000001.11:g.190656753_190656762dup, NC_000001.11:g.190656752_190656762dup, NC_000001.11:g.190656750_190656762dup, NC_000001.11:g.190656748_190656762dup, NC_000001.11:g.190656745_190656762dup, NC_000001.11:g.190656744_190656762dup, NC_000001.11:g.190656762_190656763insTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.190656762_190656763insTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.190656762_190656763insTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.190625880_190625892del, NC_000001.10:g.190625882_190625892del, NC_000001.10:g.190625886_190625892del, NC_000001.10:g.190625887_190625892del, NC_000001.10:g.190625888_190625892del, NC_000001.10:g.190625889_190625892del, NC_000001.10:g.190625890_190625892del, NC_000001.10:g.190625891_190625892del, NC_000001.10:g.190625892del, NC_000001.10:g.190625892dup, NC_000001.10:g.190625891_190625892dup, NC_000001.10:g.190625890_190625892dup, NC_000001.10:g.190625889_190625892dup, NC_000001.10:g.190625888_190625892dup, NC_000001.10:g.190625886_190625892dup, NC_000001.10:g.190625885_190625892dup, NC_000001.10:g.190625884_190625892dup, NC_000001.10:g.190625883_190625892dup, NC_000001.10:g.190625882_190625892dup, NC_000001.10:g.190625880_190625892dup, NC_000001.10:g.190625878_190625892dup, NC_000001.10:g.190625875_190625892dup, NC_000001.10:g.190625874_190625892dup, NC_000001.10:g.190625892_190625893insTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.190625892_190625893insTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.190625892_190625893insTTTTTTTTTTTTTTTTTTTTTTT

Select item 14915199574.

rs1491519957 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 1:190694948 (GRCh38)
1:190664078 (GRCh37)
Canonical SPDI:: NC_000001.11:190694947:GT:
Gene:: LINC01720 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00026/9 (GnomAD)
HGVS:: NC_000001.11:g.190694948_190694949del, NC_000001.10:g.190664078_190664079del

Select item 14914266235.

rs1491426623 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT,GTGT [Show Flanks]
Chromosome:: 1:190694947 (GRCh38)
1:190664078 (GRCh37)
Canonical SPDI:: NC_000001.11:190694947:GT:GTGT,NC_000001.11:190694947:GT:GTGTGT
Gene:: LINC01720 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGT=0./0 (ALFA)
GT=0.0002/7 (GnomAD)
GT=0.00044/5 (TOMMO)
HGVS:: NC_000001.11:g.190694948_190694949dup, NC_000001.11:g.190694948GT[3], NC_000001.10:g.190664078_190664079dup, NC_000001.10:g.190664078GT[3]

Select item 14914066346.

rs1491406634 has merged into rs1182052916 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATATATATATATATATATATATATATATATA>-,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATA [Show Flanks]
Chromosome:: 1:190770701 (GRCh38)
1:190739831 (GRCh37)
Canonical SPDI:: NC_000001.11:190770689:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATA,NC_000001.11:190770689:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATA,NC_000001.11:190770689:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATA,NC_000001.11:190770689:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATA,NC_000001.11:190770689:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATA,NC_000001.11:190770689:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATA,NC_000001.11:190770689:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATA,NC_000001.11:190770689:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATA,NC_000001.11:190770689:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATA,NC_000001.11:190770689:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATA,NC_000001.11:190770689:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATA,NC_000001.11:190770689:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATA,NC_000001.11:190770689:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATA,NC_000001.11:190770689:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATA,NC_000001.11:190770689:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATA,NC_000001.11:190770689:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATA,NC_000001.11:190770689:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000001.11:190770689:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000001.11:190770689:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000001.11:190770689:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000001.11:190770689:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000001.11:190770689:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000001.11:190770689:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000001.11:190770689:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000001.11:190770689:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000001.11:190770689:ATATATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA
Gene:: LINC01720 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATATATA=0./0 (ALFA)
HGVS:: NC_000001.11:g.190770691TA[5], NC_000001.11:g.190770691TA[8], NC_000001.11:g.190770691TA[9], NC_000001.11:g.190770691TA[10], NC_000001.11:g.190770691TA[11], NC_000001.11:g.190770691TA[12], NC_000001.11:g.190770691TA[13], NC_000001.11:g.190770691TA[14], NC_000001.11:g.190770691TA[15], NC_000001.11:g.190770691TA[16], NC_000001.11:g.190770691TA[17], NC_000001.11:g.190770691TA[18], NC_000001.11:g.190770691TA[19], NC_000001.11:g.190770691TA[20], NC_000001.11:g.190770691TA[21], NC_000001.11:g.190770691TA[22], NC_000001.11:g.190770691TA[24], NC_000001.11:g.190770691TA[25], NC_000001.11:g.190770691TA[26], NC_000001.11:g.190770691TA[27], NC_000001.11:g.190770691TA[28], NC_000001.11:g.190770691TA[29], NC_000001.11:g.190770691TA[30], NC_000001.11:g.190770691TA[31], NC_000001.11:g.190770691TA[32], NC_000001.11:g.190770691TA[33], NC_000001.10:g.190739821TA[5], NC_000001.10:g.190739821TA[8], NC_000001.10:g.190739821TA[9], NC_000001.10:g.190739821TA[10], NC_000001.10:g.190739821TA[11], NC_000001.10:g.190739821TA[12], NC_000001.10:g.190739821TA[13], NC_000001.10:g.190739821TA[14], NC_000001.10:g.190739821TA[15], NC_000001.10:g.190739821TA[16], NC_000001.10:g.190739821TA[17], NC_000001.10:g.190739821TA[18], NC_000001.10:g.190739821TA[19], NC_000001.10:g.190739821TA[20], NC_000001.10:g.190739821TA[21], NC_000001.10:g.190739821TA[22], NC_000001.10:g.190739821TA[24], NC_000001.10:g.190739821TA[25], NC_000001.10:g.190739821TA[26], NC_000001.10:g.190739821TA[27], NC_000001.10:g.190739821TA[28], NC_000001.10:g.190739821TA[29], NC_000001.10:g.190739821TA[30], NC_000001.10:g.190739821TA[31], NC_000001.10:g.190739821TA[32], NC_000001.10:g.190739821TA[33]

Select item 14914012447.

rs1491401244 has merged into rs71103680 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT [Show Flanks]
Chromosome:: 1:190689201 (GRCh38)
1:190658331 (GRCh37)
Canonical SPDI:: NC_000001.11:190689187:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:190689187:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:190689187:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:190689187:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:190689187:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:190689187:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:190689187:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:190689187:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190689187:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: LINC01720 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.265/1327 (1000Genomes)
HGVS:: NC_000001.11:g.190689201_190689202del, NC_000001.11:g.190689202del, NC_000001.11:g.190689202dup, NC_000001.11:g.190689201_190689202dup, NC_000001.11:g.190689200_190689202dup, NC_000001.11:g.190689199_190689202dup, NC_000001.11:g.190689198_190689202dup, NC_000001.11:g.190689197_190689202dup, NC_000001.11:g.190689196_190689202dup, NC_000001.10:g.190658331_190658332del, NC_000001.10:g.190658332del, NC_000001.10:g.190658332dup, NC_000001.10:g.190658331_190658332dup, NC_000001.10:g.190658330_190658332dup, NC_000001.10:g.190658329_190658332dup, NC_000001.10:g.190658328_190658332dup, NC_000001.10:g.190658327_190658332dup, NC_000001.10:g.190658326_190658332dup

Select item 14913744698.

rs1491374469 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:190646331 (GRCh38)
1:190615462 (GRCh37)
Canonical SPDI:: NC_000001.11:190646331:T:TT
Gene:: LINC01720 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.190646332dup, NC_000001.10:g.190615462dup

Select item 14913343099.

rs1491334309 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 1:190646331 (GRCh38)
1:190615461 (GRCh37)
Canonical SPDI:: NC_000001.11:190646330:CT:
Gene:: LINC01720 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.190646331_190646332del, NC_000001.10:g.190615461_190615462del

Select item 149131501310.

rs1491315013 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:190651176 (GRCh38)
1:190620306 (GRCh37)
Canonical SPDI:: NC_000001.11:190651175:CA:
Gene:: LINC01720 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00034/4 (ALFA)
HGVS:: NC_000001.11:g.190651176_190651177del, NC_000001.10:g.190620306_190620307del

Select item 149130177611.

rs1491301776 has merged into rs5779551 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 1:190666223 (GRCh38)
1:190635353 (GRCh37)
Canonical SPDI:: NC_000001.11:190666208:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:190666208:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:190666208:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:190666208:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:190666208:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:190666208:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LINC01720 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.475/19 (GENOME_DK)
T=0.4866/2437 (1000Genomes)
HGVS:: NC_000001.11:g.190666223_190666224del, NC_000001.11:g.190666224del, NC_000001.11:g.190666224dup, NC_000001.11:g.190666223_190666224dup, NC_000001.11:g.190666222_190666224dup, NC_000001.11:g.190666216_190666224dup, NC_000001.10:g.190635353_190635354del, NC_000001.10:g.190635354del, NC_000001.10:g.190635354dup, NC_000001.10:g.190635353_190635354dup, NC_000001.10:g.190635352_190635354dup, NC_000001.10:g.190635346_190635354dup

Select item 149128844212.

rs1491288442 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 1:190689188 (GRCh38)
1:190658319 (GRCh37)
Canonical SPDI:: NC_000001.11:190689188:T:TCT
Gene:: LINC01720 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCT=0./0 (ALFA)
TC=0.000004/1 (TOPMED)
TC=0.000838/1 (GnomAD)
HGVS:: NC_000001.11:g.190689189_190689190insCT, NC_000001.10:g.190658319_190658320insCT

Select item 149125447713.

rs1491254477 [Homo sapiens]

Variant type:: DEL
Alleles:: GC>- [Show Flanks]
Chromosome:: 1:190643986 (GRCh38)
1:190613116 (GRCh37)
Canonical SPDI:: NC_000001.11:190643985:GC:
Gene:: LINC01720 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.0005/2 (ALFA)
HGVS:: NC_000001.11:g.190643986_190643987del, NC_000001.10:g.190613116_190613117del

Select item 149120003114.

rs1491200031 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATT,ATTTATT,ATTTTATT,ATTTTATTTATT,ATTTTATTTTATT [Show Flanks]
Chromosome:: 1:190646550 (GRCh38)
1:190615681 (GRCh37)
Canonical SPDI:: NC_000001.11:190646550:TT:TTATT,NC_000001.11:190646550:TT:TTATTTATT,NC_000001.11:190646550:TT:TTATTTTATT,NC_000001.11:190646550:TT:TTATTTTATTTATT,NC_000001.11:190646550:TT:TTATTTTATTTTATT
Gene:: LINC01720 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTATTTATT=0./0 (ALFA)
HGVS:: NC_000001.11:g.190646552_190646553insATT, NC_000001.11:g.190646551_190646552TTAT[2]T[1], NC_000001.11:g.190646552_190646553insATTTTATT, NC_000001.11:g.190646551_190646552TTATT[2]TATT[1], NC_000001.11:g.190646552_190646553insATTTTATTTTATT, NC_000001.10:g.190615682_190615683insATT, NC_000001.10:g.190615681_190615682TTAT[2]T[1], NC_000001.10:g.190615682_190615683insATTTTATT, NC_000001.10:g.190615681_190615682TTATT[2]TATT[1], NC_000001.10:g.190615682_190615683insATTTTATTTTATT

Select item 149114927115.

rs1491149271 has merged into rs1362811651 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:190646566 (GRCh38)
1:190615696 (GRCh37)
Canonical SPDI:: NC_000001.11:190646549:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:190646549:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:190646549:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:190646549:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:190646549:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190646549:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190646549:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190646549:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190646549:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190646549:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190646549:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190646549:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190646549:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190646549:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190646549:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190646549:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190646549:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190646549:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190646549:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190646549:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190646549:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190646549:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:190646549:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LINC01720 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.190646566_190646569del, NC_000001.11:g.190646567_190646569del, NC_000001.11:g.190646568_190646569del, NC_000001.11:g.190646569del, NC_000001.11:g.190646569dup, NC_000001.11:g.190646568_190646569dup, NC_000001.11:g.190646567_190646569dup, NC_000001.11:g.190646566_190646569dup, NC_000001.11:g.190646562_190646569dup, NC_000001.11:g.190646561_190646569dup, NC_000001.11:g.190646560_190646569dup, NC_000001.11:g.190646559_190646569dup, NC_000001.11:g.190646558_190646569dup, NC_000001.11:g.190646557_190646569dup, NC_000001.11:g.190646555_190646569dup, NC_000001.11:g.190646553_190646569dup, NC_000001.11:g.190646552_190646569dup, NC_000001.11:g.190646551_190646569dup, NC_000001.11:g.190646550_190646569dup, NC_000001.11:g.190646569_190646570insTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.190646569_190646570insTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.190646569_190646570insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.190646569_190646570insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.190615696_190615699del, NC_000001.10:g.190615697_190615699del, NC_000001.10:g.190615698_190615699del, NC_000001.10:g.190615699del, NC_000001.10:g.190615699dup, NC_000001.10:g.190615698_190615699dup, NC_000001.10:g.190615697_190615699dup, NC_000001.10:g.190615696_190615699dup, NC_000001.10:g.190615692_190615699dup, NC_000001.10:g.190615691_190615699dup, NC_000001.10:g.190615690_190615699dup, NC_000001.10:g.190615689_190615699dup, NC_000001.10:g.190615688_190615699dup, NC_000001.10:g.190615687_190615699dup, NC_000001.10:g.190615685_190615699dup, NC_000001.10:g.190615683_190615699dup, NC_000001.10:g.190615682_190615699dup, NC_000001.10:g.190615681_190615699dup, NC_000001.10:g.190615680_190615699dup, NC_000001.10:g.190615699_190615700insTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.190615699_190615700insTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.190615699_190615700insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.190615699_190615700insTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149113216616.

rs1491132166 has merged into rs932440316 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,TT,TTT,TTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:190624852 (GRCh38)
1:190593982 (GRCh37)
Canonical SPDI:: NC_000001.11:190624844:TTTTTTTTTTT:TTTTTTT,NC_000001.11:190624844:TTTTTTTTTTT:TTTTTTTTT,NC_000001.11:190624844:TTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:190624844:TTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:190624844:TTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:190624844:TTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:190624844:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:190624844:TTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LINC01720 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.190624852_190624855del, NC_000001.11:g.190624854_190624855del, NC_000001.11:g.190624855del, NC_000001.11:g.190624855dup, NC_000001.11:g.190624851_190624855dup, NC_000001.11:g.190624850_190624855dup, NC_000001.11:g.190624849_190624855dup, NC_000001.11:g.190624855_190624856insTTTTTTTTTTTTTT, NC_000001.10:g.190593982_190593985del, NC_000001.10:g.190593984_190593985del, NC_000001.10:g.190593985del, NC_000001.10:g.190593985dup, NC_000001.10:g.190593981_190593985dup, NC_000001.10:g.190593980_190593985dup, NC_000001.10:g.190593979_190593985dup, NC_000001.10:g.190593985_190593986insTTTTTTTTTTTTTT

Select item 149112373817.

rs1491123738 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 1:190694928 (GRCh38)
1:190664058 (GRCh37)
Canonical SPDI:: NC_000001.11:190694927:GT:
Gene:: LINC01720 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00007/1 (TOMMO)
-=0.00075/22 (GnomAD)
HGVS:: NC_000001.11:g.190694928_190694929del, NC_000001.10:g.190664058_190664059del

Select item 149109331318.

rs1491093313 has merged into rs34739007 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 1:190668633 (GRCh38)
1:190637763 (GRCh37)
Canonical SPDI:: NC_000001.11:190668623:AAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:190668623:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:190668623:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:190668623:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:190668623:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:190668623:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:190668623:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: LINC01720 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.2/8 (GENOME_DK)
-=0.22664/1135 (1000Genomes)
HGVS:: NC_000001.11:g.190668633_190668636del, NC_000001.11:g.190668634_190668636del, NC_000001.11:g.190668635_190668636del, NC_000001.11:g.190668636del, NC_000001.11:g.190668636dup, NC_000001.11:g.190668635_190668636dup, NC_000001.11:g.190668634_190668636dup, NC_000001.10:g.190637763_190637766del, NC_000001.10:g.190637764_190637766del, NC_000001.10:g.190637765_190637766del, NC_000001.10:g.190637766del, NC_000001.10:g.190637766dup, NC_000001.10:g.190637765_190637766dup, NC_000001.10:g.190637764_190637766dup

Select item 149108794819.

rs1491087948 has merged into rs142199536 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CA,CACACA,CACACACA,CACACACACA [Show Flanks]
Chromosome:: 1:190641778 (GRCh38)
1:190610908 (GRCh37)
Canonical SPDI:: NC_000001.11:190641762:ACACACACACACACACACA:ACACACACACACACA,NC_000001.11:190641762:ACACACACACACACACACA:ACACACACACACACACA,NC_000001.11:190641762:ACACACACACACACACACA:ACACACACACACACACACACA,NC_000001.11:190641762:ACACACACACACACACACA:ACACACACACACACACACACACA,NC_000001.11:190641762:ACACACACACACACACACA:ACACACACACACACACACACACACA
Gene:: LINC01720 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACACACACACA=0./0 (ALFA)
-=0.425/17 (GENOME_DK)
-=0.4602/843 (Korea1K)
HGVS:: NC_000001.11:g.190641764CA[7], NC_000001.11:g.190641764CA[8], NC_000001.11:g.190641764CA[10], NC_000001.11:g.190641764CA[11], NC_000001.11:g.190641764CA[12], NC_000001.10:g.190610894CA[7], NC_000001.10:g.190610894CA[8], NC_000001.10:g.190610894CA[10], NC_000001.10:g.190610894CA[11], NC_000001.10:g.190610894CA[12]

Select item 149108336120.

rs1491083361 has merged into rs34006267 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT [Show Flanks]
Chromosome:: 1:190720585 (GRCh38)
1:190689715 (GRCh37)
Canonical SPDI:: NC_000001.11:190720576:TTTTTTTTTTT:TTTTTTTT,NC_000001.11:190720576:TTTTTTTTTTT:TTTTTTTTT,NC_000001.11:190720576:TTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:190720576:TTTTTTTTTTT:TTTTTTTTTTTT
Gene:: LINC01720 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.2574/992 (ALSPAC)
-=0.3625/1263 (1000Genomes)
HGVS:: NC_000001.11:g.190720585_190720587del, NC_000001.11:g.190720586_190720587del, NC_000001.11:g.190720587del, NC_000001.11:g.190720587dup, NC_000001.10:g.190689715_190689717del, NC_000001.10:g.190689716_190689717del, NC_000001.10:g.190689717del, NC_000001.10:g.190689717dup

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