SNP Links for Gene (Select 101929486) - SNP

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Select item 14915595091.

rs1491559509 has merged into rs201289143 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA,AAAAA [Show Flanks]
Chromosome:: 20:12885478 (GRCh38)
20:12866126 (GRCh37)
Canonical SPDI:: NC_000020.11:12885465:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000020.11:12885465:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:12885465:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:12885465:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:12885465:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: LINC01722 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
A=0.2087/1045 (1000Genomes)
A=0.3697/210 (NorthernSweden)
A=0.45/18 (GENOME_DK)
HGVS:: NC_000020.11:g.12885478_12885479del, NC_000020.11:g.12885479del, NC_000020.11:g.12885479dup, NC_000020.11:g.12885478_12885479dup, NC_000020.11:g.12885477_12885479dup, NC_000020.10:g.12866126_12866127del, NC_000020.10:g.12866127del, NC_000020.10:g.12866127dup, NC_000020.10:g.12866126_12866127dup, NC_000020.10:g.12866125_12866127dup

Select item 14915446912.

rs1491544691 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 20:12936500 (GRCh38)
20:12917148 (GRCh37)
Canonical SPDI:: NC_000020.11:12936499:TA:
Gene:: LINC01722 (Varview), LOC102606466 (Varview), LOC105372535 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000037/5 (GnomAD)
HGVS:: NC_000020.11:g.12936500_12936501del, NC_000020.10:g.12917148_12917149del

Select item 14915016233.

rs1491501623 has merged into rs1555778385 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG,GGGG [Show Flanks]
Chromosome:: 20:12873433 (GRCh38)
20:12854081 (GRCh37)
Canonical SPDI:: NC_000020.11:12873430:GGGG:GG,NC_000020.11:12873430:GGGG:GGG,NC_000020.11:12873430:GGGG:GGGGG,NC_000020.11:12873430:GGGG:GGGGGG
Gene:: LINC01722 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGG=0./0 (ALFA)
-=0.00111/2 (Korea1K)
-=0.00127/21 (TOMMO)
-=0.00453/29 (1000Genomes)
HGVS:: NC_000020.11:g.12873433_12873434del, NC_000020.11:g.12873434del, NC_000020.11:g.12873434dup, NC_000020.11:g.12873433_12873434dup, NC_000020.10:g.12854081_12854082del, NC_000020.10:g.12854082del, NC_000020.10:g.12854082dup, NC_000020.10:g.12854081_12854082dup

Select item 14914710124.

rs1491471012 [Homo sapiens]

Variant type:: INS
Alleles:: ->CACACACA,GCAC [Show Flanks]
Chromosome:: 20:12916226 (GRCh38)
20:12896875 (GRCh37)
Canonical SPDI:: NC_000020.11:12916226::CACACACA,NC_000020.11:12916226::GCAC
Gene:: LINC01722 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCAC=0./0 (ALFA)
GCAC=0.000008/2 (TOPMED)
GCAC=0.000016/2 (GnomAD)
HGVS:: NC_000020.11:g.12916226_12916227insCACACACA, NC_000020.11:g.12916226_12916227insGCAC, NC_000020.10:g.12896874_12896875insCACACACA, NC_000020.10:g.12896874_12896875insGCAC

Select item 14914428695.

rs1491442869 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA,CACA,CACACA,CACACACA [Show Flanks]
Chromosome:: 20:12916224 (GRCh38)
20:12896873 (GRCh37)
Canonical SPDI:: NC_000020.11:12916224:A:ACA,NC_000020.11:12916224:A:ACACA,NC_000020.11:12916224:A:ACACACA,NC_000020.11:12916224:A:ACACACACA
Gene:: LINC01722 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACA=0./0 (ALFA)
HGVS:: NC_000020.11:g.12916225_12916226insCA, NC_000020.11:g.12916225_12916226insCACA, NC_000020.11:g.12916226CA[3], NC_000020.11:g.12916226CA[4], NC_000020.10:g.12896873_12896874insCA, NC_000020.10:g.12896873_12896874insCACA, NC_000020.10:g.12896874CA[3], NC_000020.10:g.12896874CA[4]

Select item 14913791506.

rs1491379150 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTG>-,TTTTGTTTTG [Show Flanks]
Chromosome:: 20:12915561 (GRCh38)
20:12896209 (GRCh37)
Canonical SPDI:: NC_000020.11:12915545:TTTTGTTTTGTTTTGTTTTG:TTTTGTTTTGTTTTG,NC_000020.11:12915545:TTTTGTTTTGTTTTGTTTTG:TTTTGTTTTGTTTTGTTTTGTTTTG
Gene:: LINC01722 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTGTTTTGTTTTGTTTTGTTTTG=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000106/3 (TOMMO)
HGVS:: NC_000020.11:g.12915546TTTTG[3], NC_000020.11:g.12915546TTTTG[5], NC_000020.10:g.12896194TTTTG[3], NC_000020.10:g.12896194TTTTG[5]

Select item 14913383107.

rs1491338310 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 20:12867118 (GRCh38)
20:12847767 (GRCh37)
Canonical SPDI:: NC_000020.11:12867118:A:AA
Gene:: LINC01722 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.12867119dup, NC_000020.10:g.12847767dup

Select item 14912837528.

rs1491283752 [Homo sapiens]

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

Select item 14911911709.

rs1491191170 has merged into rs3138654 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGTGTGTGT>-,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 20:12873450 (GRCh38)
20:12854098 (GRCh37)
Canonical SPDI:: NC_000020.11:12873433:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGT,NC_000020.11:12873433:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:12873433:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:12873433:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:12873433:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:12873433:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:12873433:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:12873433:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:12873433:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:12873433:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:12873433:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:12873433:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:12873433:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:12873433:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:12873433:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:12873433:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:12873433:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:12873433:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000020.11:12873433:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: LINC01722 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000020.11:g.12873434GT[8], NC_000020.11:g.12873434GT[11], NC_000020.11:g.12873434GT[12], NC_000020.11:g.12873434GT[13], NC_000020.11:g.12873434GT[14], NC_000020.11:g.12873434GT[15], NC_000020.11:g.12873434GT[16], NC_000020.11:g.12873434GT[17], NC_000020.11:g.12873434GT[18], NC_000020.11:g.12873434GT[19], NC_000020.11:g.12873434GT[20], NC_000020.11:g.12873434GT[22], NC_000020.11:g.12873434GT[23], NC_000020.11:g.12873434GT[24], NC_000020.11:g.12873434GT[25], NC_000020.11:g.12873434GT[26], NC_000020.11:g.12873434GT[27], NC_000020.11:g.12873434GT[28], NC_000020.11:g.12873434GT[29], NC_000020.10:g.12854082GT[8], NC_000020.10:g.12854082GT[11], NC_000020.10:g.12854082GT[12], NC_000020.10:g.12854082GT[13], NC_000020.10:g.12854082GT[14], NC_000020.10:g.12854082GT[15], NC_000020.10:g.12854082GT[16], NC_000020.10:g.12854082GT[17], NC_000020.10:g.12854082GT[18], NC_000020.10:g.12854082GT[19], NC_000020.10:g.12854082GT[20], NC_000020.10:g.12854082GT[22], NC_000020.10:g.12854082GT[23], NC_000020.10:g.12854082GT[24], NC_000020.10:g.12854082GT[25], NC_000020.10:g.12854082GT[26], NC_000020.10:g.12854082GT[27], NC_000020.10:g.12854082GT[28], NC_000020.10:g.12854082GT[29]

Select item 149116772710.

rs1491167727 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 20:12867122 (GRCh38)
20:12847770 (GRCh37)
Canonical SPDI:: NC_000020.11:12867117:CACACA:CACA
Gene:: LINC01722 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CACA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000020.11:g.12867118CA[2], NC_000020.10:g.12847766CA[2]

Select item 149108336711.

rs1491083367 has merged into rs200171427 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT [Show Flanks]
Chromosome:: 20:12901646 (GRCh38)
20:12882294 (GRCh37)
Canonical SPDI:: NC_000020.11:12901638:TTTTTTTTTTTTTT:TTTTTTT,NC_000020.11:12901638:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000020.11:12901638:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000020.11:12901638:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000020.11:12901638:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: LINC01722 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
T=0.075/3 (GENOME_DK)
T=0.09667/58 (NorthernSweden)
HGVS:: NC_000020.11:g.12901646_12901652del, NC_000020.11:g.12901651_12901652del, NC_000020.11:g.12901652del, NC_000020.11:g.12901652dup, NC_000020.11:g.12901651_12901652dup, NC_000020.10:g.12882294_12882300del, NC_000020.10:g.12882299_12882300del, NC_000020.10:g.12882300del, NC_000020.10:g.12882300dup, NC_000020.10:g.12882299_12882300dup

Select item 149106820512.

rs1491068205 has merged into rs145627029 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 20:12869467 (GRCh38)
20:12850115 (GRCh37)
Canonical SPDI:: NC_000020.11:12869455:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000020.11:12869455:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000020.11:12869455:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:12869455:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:12869455:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:12869455:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:12869455:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA
Gene:: LINC01722 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
A=0.2/8 (GENOME_DK)
A=0.24581/1231 (1000Genomes)
HGVS:: NC_000020.11:g.12869467_12869470del, NC_000020.11:g.12869469_12869470del, NC_000020.11:g.12869470del, NC_000020.11:g.12869470dup, NC_000020.11:g.12869469_12869470dup, NC_000020.11:g.12869468_12869470dup, NC_000020.11:g.12869467_12869470dup, NC_000020.10:g.12850115_12850118del, NC_000020.10:g.12850117_12850118del, NC_000020.10:g.12850118del, NC_000020.10:g.12850118dup, NC_000020.10:g.12850117_12850118dup, NC_000020.10:g.12850116_12850118dup, NC_000020.10:g.12850115_12850118dup

Select item 149103208713.

rs1491032087 has merged into rs55994916 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 20:12910335 (GRCh38)
20:12890983 (GRCh37)
Canonical SPDI:: NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000020.11:12910325:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: LINC01722 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000020.11:g.12910335_12910344del, NC_000020.11:g.12910336_12910344del, NC_000020.11:g.12910340_12910344del, NC_000020.11:g.12910341_12910344del, NC_000020.11:g.12910342_12910344del, NC_000020.11:g.12910343_12910344del, NC_000020.11:g.12910344del, NC_000020.11:g.12910344dup, NC_000020.11:g.12910343_12910344dup, NC_000020.11:g.12910342_12910344dup, NC_000020.11:g.12910341_12910344dup, NC_000020.11:g.12910340_12910344dup, NC_000020.11:g.12910339_12910344dup, NC_000020.11:g.12910338_12910344dup, NC_000020.11:g.12910336_12910344dup, NC_000020.11:g.12910328_12910344dup, NC_000020.10:g.12890983_12890992del, NC_000020.10:g.12890984_12890992del, NC_000020.10:g.12890988_12890992del, NC_000020.10:g.12890989_12890992del, NC_000020.10:g.12890990_12890992del, NC_000020.10:g.12890991_12890992del, NC_000020.10:g.12890992del, NC_000020.10:g.12890992dup, NC_000020.10:g.12890991_12890992dup, NC_000020.10:g.12890990_12890992dup, NC_000020.10:g.12890989_12890992dup, NC_000020.10:g.12890988_12890992dup, NC_000020.10:g.12890987_12890992dup, NC_000020.10:g.12890986_12890992dup, NC_000020.10:g.12890984_12890992dup, NC_000020.10:g.12890976_12890992dup

Select item 149100112914.

rs1491001129 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CACTACCTT [Show Flanks]
Chromosome:: 20:12920082 (GRCh38)
20:12900731 (GRCh37)
Canonical SPDI:: NC_000020.11:12920082:TCACTACCTT:TCACTACCTTCACTACCTT
Gene:: LINC01722 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: TCACTACCT=0.000014/2 (GnomAD)
HGVS:: NC_000020.11:g.12920084_12920092dup, NC_000020.10:g.12900732_12900740dup

Select item 149098664215.

rs1490986642 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:12941866 (GRCh38)
20:12922514 (GRCh37)
Canonical SPDI:: NC_000020.11:12941865:T:C
Gene:: LINC01722 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00006/1 (TOMMO)
HGVS:: NC_000020.11:g.12941866T>C, NC_000020.10:g.12922514T>C

Select item 149098281816.

rs1490982818 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 20:12870841 (GRCh38)
20:12851489 (GRCh37)
Canonical SPDI:: NC_000020.11:12870840:T:C
Gene:: LINC01722 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000020.11:g.12870841T>C, NC_000020.10:g.12851489T>C

Select item 149097668917.

rs1490976689 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 20:12922499 (GRCh38)
20:12903147 (GRCh37)
Canonical SPDI:: NC_000020.11:12922498:G:C
Gene:: LINC01722 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000020.11:g.12922499G>C, NC_000020.10:g.12903147G>C

Select item 149096042518.

rs1490960425 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 20:12926404 (GRCh38)
20:12907052 (GRCh37)
Canonical SPDI:: NC_000020.11:12926403:A:G
Gene:: LINC01722 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000020.11:g.12926404A>G, NC_000020.10:g.12907052A>G

Select item 149093029019.

rs1490930290 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 20:12941125 (GRCh38)
20:12921773 (GRCh37)
Canonical SPDI:: NC_000020.11:12941124:CCCC:CCC
Gene:: LINC01722 (Varview), LOC105372535 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CCC=0.000071/1 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000026/7 (TOPMED)
HGVS:: NC_000020.11:g.12941128del, NC_000020.10:g.12921776del

Select item 149072141820.

rs1490721418 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 20:12938557 (GRCh38)
20:12919205 (GRCh37)
Canonical SPDI:: NC_000020.11:12938556:GGG:GG
Gene:: LINC01722 (Varview), LOC102606466 (Varview), LOC105372535 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,non_coding_transcript_variant,upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000073/10 (GnomAD)
-=0.000156/1 (1000Genomes)
HGVS:: NC_000020.11:g.12938559del, NC_000020.10:g.12919207del, XR_937273.3:n.1268del

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