SNP Links for Gene (Select 100628307) - SNP

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Select item 14915307951.

rs1491530795 [Homo sapiens]

Variant type:: INS
Alleles:: ->CA [Show Flanks]
Chromosome:: 14:80289228 (GRCh38)
14:80755572 (GRCh37)
Canonical SPDI:: NC_000014.9:80289228::CA
Gene:: DIO2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CA=0.0018/8 (ALFA)
HGVS:: NC_000014.9:g.80289228_80289229insCA, NC_000014.8:g.80755571_80755572insCA

Select item 14915267002.

rs1491526700 has merged into rs1002371287 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGA>-,GA,GAGAGA [Show Flanks]
Chromosome:: 14:80278404 (GRCh38)
14:80744747 (GRCh37)
Canonical SPDI:: NC_000014.9:80278394:AGAGAGAGAGAGA:AGAGAGAGA,NC_000014.9:80278394:AGAGAGAGAGAGA:AGAGAGAGAGA,NC_000014.9:80278394:AGAGAGAGAGAGA:AGAGAGAGAGAGAGA
Gene:: DIO2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGA=0./0 (ALFA)
HGVS:: NC_000014.9:g.80278396GA[4], NC_000014.9:g.80278396GA[5], NC_000014.9:g.80278396GA[7], NC_000014.8:g.80744739GA[4], NC_000014.8:g.80744739GA[5], NC_000014.8:g.80744739GA[7]

Select item 14915160053.

rs1491516005 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTG,TTTTTTTTTTTTTTTTTA,TTTTTTTTTTTTTTTTTTTACAGG [Show Flanks]
Chromosome:: 14:80261953 (GRCh38)
14:80728297 (GRCh37)
Canonical SPDI:: NC_000014.9:80261953::TTG,NC_000014.9:80261953::TTTTTTTTTTTTTTTTTA,NC_000014.9:80261953::TTTTTTTTTTTTTTTTTTTACAGG
Gene:: DIO2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTG=0./0 (ALFA)
TTG=0.000004/1 (TOPMED)
TTTTTTTTTTTTTTTTTTTACAGG=0.000008/1 (GnomAD)
TTTTTTTTTTTTTTTTTA=0.000036/1 (TOMMO)
HGVS:: NC_000014.9:g.80261953_80261954insTTG, NC_000014.9:g.80261953_80261954insTTTTTTTTTTTTTTTTTA, NC_000014.9:g.80261953_80261954insTTTTTTTTTTTTTTTTTTTACAGG, NC_000014.8:g.80728296_80728297insTTG, NC_000014.8:g.80728296_80728297insTTTTTTTTTTTTTTTTTA, NC_000014.8:g.80728296_80728297insTTTTTTTTTTTTTTTTTTTACAGG

Select item 14915098044.

rs1491509804 has merged into rs766289912 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 14:80424341 (GRCh38)
14:80890684 (GRCh37)
Canonical SPDI:: NC_000014.9:80424328:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:80424328:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:80424328:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:80424328:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:80424328:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:80424328:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:80424328:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:80424328:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DIO2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.125/5 (GENOME_DK)
HGVS:: NC_000014.9:g.80424341_80424344del, NC_000014.9:g.80424342_80424344del, NC_000014.9:g.80424343_80424344del, NC_000014.9:g.80424344del, NC_000014.9:g.80424344dup, NC_000014.9:g.80424343_80424344dup, NC_000014.9:g.80424342_80424344dup, NC_000014.9:g.80424335_80424344dup, NC_000014.8:g.80890684_80890687del, NC_000014.8:g.80890685_80890687del, NC_000014.8:g.80890686_80890687del, NC_000014.8:g.80890687del, NC_000014.8:g.80890687dup, NC_000014.8:g.80890686_80890687dup, NC_000014.8:g.80890685_80890687dup, NC_000014.8:g.80890678_80890687dup

Select item 14914753315.

rs1491475331 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 14:80320391 (GRCh38)
14:80786734 (GRCh37)
Canonical SPDI:: NC_000014.9:80320388:CACA:CA
Gene:: DIO2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACA=0./0 (ALFA)
-=0.00004/3 (GnomAD)
HGVS:: NC_000014.9:g.80320389CA[1], NC_000014.8:g.80786732CA[1]

Select item 14914664946.

rs1491466494 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 14:80224535 (GRCh38)
14:80690878 (GRCh37)
Canonical SPDI:: NC_000014.9:80224534:AA:
Gene:: DIO2 (Varview), DIO2-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.80224535_80224536del, NC_000014.8:g.80690878_80690879del

Select item 14914024977.

rs1491402497 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 14:80410543 (GRCh38)
14:80876887 (GRCh37)
Canonical SPDI:: NC_000014.9:80410543::T
Gene:: DIO2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.00035/6 (TOMMO)
HGVS:: NC_000014.9:g.80410543_80410544insT, NC_000014.8:g.80876886_80876887insT

Select item 14913693758.

rs1491369375 has merged into rs61373366 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 14:80219516 (GRCh38)
14:80685859 (GRCh37)
Canonical SPDI:: NC_000014.9:80219505:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:80219505:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:80219505:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:80219505:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:80219505:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:80219505:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:80219505:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:80219505:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:80219505:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:80219505:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: DIO2 (Varview), DIO2-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.25/10 (GENOME_DK)
HGVS:: NC_000014.9:g.80219516_80219524del, NC_000014.9:g.80219517_80219524del, NC_000014.9:g.80219520_80219524del, NC_000014.9:g.80219521_80219524del, NC_000014.9:g.80219522_80219524del, NC_000014.9:g.80219523_80219524del, NC_000014.9:g.80219524del, NC_000014.9:g.80219524dup, NC_000014.9:g.80219523_80219524dup, NC_000014.9:g.80219522_80219524dup, NC_000014.8:g.80685859_80685867del, NC_000014.8:g.80685860_80685867del, NC_000014.8:g.80685863_80685867del, NC_000014.8:g.80685864_80685867del, NC_000014.8:g.80685865_80685867del, NC_000014.8:g.80685866_80685867del, NC_000014.8:g.80685867del, NC_000014.8:g.80685867dup, NC_000014.8:g.80685866_80685867dup, NC_000014.8:g.80685865_80685867dup

Select item 14913581879.

rs1491358187 has merged into rs10540744 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 14:80211788 (GRCh38)
14:80678131 (GRCh37)
Canonical SPDI:: NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:80211775:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DIO2 (Varview), DIO2-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000014.9:g.80211788_80211804del, NC_000014.9:g.80211789_80211804del, NC_000014.9:g.80211790_80211804del, NC_000014.9:g.80211791_80211804del, NC_000014.9:g.80211792_80211804del, NC_000014.9:g.80211793_80211804del, NC_000014.9:g.80211794_80211804del, NC_000014.9:g.80211795_80211804del, NC_000014.9:g.80211796_80211804del, NC_000014.9:g.80211797_80211804del, NC_000014.9:g.80211798_80211804del, NC_000014.9:g.80211799_80211804del, NC_000014.9:g.80211800_80211804del, NC_000014.9:g.80211801_80211804del, NC_000014.9:g.80211802_80211804del, NC_000014.9:g.80211803_80211804del, NC_000014.9:g.80211804del, NC_000014.9:g.80211804dup, NC_000014.9:g.80211803_80211804dup, NC_000014.9:g.80211802_80211804dup, NC_000014.9:g.80211800_80211804dup, NC_000014.9:g.80211796_80211804dup, NC_000014.9:g.80211788_80211804dup, NC_000014.9:g.80211787_80211804dup, NC_000014.8:g.80678131_80678147del, NC_000014.8:g.80678132_80678147del, NC_000014.8:g.80678133_80678147del, NC_000014.8:g.80678134_80678147del, NC_000014.8:g.80678135_80678147del, NC_000014.8:g.80678136_80678147del, NC_000014.8:g.80678137_80678147del, NC_000014.8:g.80678138_80678147del, NC_000014.8:g.80678139_80678147del, NC_000014.8:g.80678140_80678147del, NC_000014.8:g.80678141_80678147del, NC_000014.8:g.80678142_80678147del, NC_000014.8:g.80678143_80678147del, NC_000014.8:g.80678144_80678147del, NC_000014.8:g.80678145_80678147del, NC_000014.8:g.80678146_80678147del, NC_000014.8:g.80678147del, NC_000014.8:g.80678147dup, NC_000014.8:g.80678146_80678147dup, NC_000014.8:g.80678145_80678147dup, NC_000014.8:g.80678143_80678147dup, NC_000014.8:g.80678139_80678147dup, NC_000014.8:g.80678131_80678147dup, NC_000014.8:g.80678130_80678147dup

Select item 149134580310.

rs1491345803 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 14:80211775 (GRCh38)
14:80678118 (GRCh37)
Canonical SPDI:: NC_000014.9:80211774:TA:
Gene:: DIO2 (Varview), DIO2-AS1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
HGVS:: NC_000014.9:g.80211775_80211776del, NC_000014.8:g.80678118_80678119del

Select item 149134500911.

rs1491345009 [Homo sapiens]

Variant type:: INS
Alleles:: ->GA,GAA [Show Flanks]
Chromosome:: 14:80296337 (GRCh38)
14:80762681 (GRCh37)
Canonical SPDI:: NC_000014.9:80296337::GA,NC_000014.9:80296337::GAA
Gene:: DIO2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAA=0./0 (ALFA)
GA=0.000004/1 (TOPMED)
GA=0.000061/1 (GnomAD)
HGVS:: NC_000014.9:g.80296337_80296338insGA, NC_000014.9:g.80296337_80296338insGAA, NC_000014.8:g.80762680_80762681insGA, NC_000014.8:g.80762680_80762681insGAA

Select item 149133269112.

rs1491332691 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 14:80296337 (GRCh38)
14:80762680 (GRCh37)
Canonical SPDI:: NC_000014.9:80296336:GA:
Gene:: DIO2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
-=0.00012/3 (GnomAD)
HGVS:: NC_000014.9:g.80296337_80296338del, NC_000014.8:g.80762680_80762681del

Select item 149133187613.

rs1491331876 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,CCCC [Show Flanks]
Chromosome:: 14:80410544 (GRCh38)
14:80876887 (GRCh37)
Canonical SPDI:: NC_000014.9:80410542:CCC:C,NC_000014.9:80410542:CCC:CCCCC
Gene:: DIO2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00059/7 (ALFA)
-=0.00384/7 (Korea1K)
-=0.00393/66 (TOMMO)
HGVS:: NC_000014.9:g.80410544_80410545del, NC_000014.9:g.80410544_80410545dup, NC_000014.8:g.80876887_80876888del, NC_000014.8:g.80876887_80876888dup

Select item 149131078514.

rs1491310785 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 14:80261954 (GRCh38)
14:80728297 (GRCh37)
Canonical SPDI:: NC_000014.9:80261952:TGT:T
Gene:: DIO2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00034/4 (ALFA)
HGVS:: NC_000014.9:g.80261954_80261955del, NC_000014.8:g.80728297_80728298del

Select item 149130337515.

rs1491303375 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 14:80322109 (GRCh38)
14:80788452 (GRCh37)
Canonical SPDI:: NC_000014.9:80322108:AT:
Gene:: DIO2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000063/7 (GnomAD)
HGVS:: NC_000014.9:g.80322109_80322110del, NC_000014.8:g.80788452_80788453del

Select item 149130227816.

rs1491302278 has merged into rs200592478 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTAAAAACTAAGAAAATCCAATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 14:80337219 (GRCh38)
14:80803562 (GRCh37)
Canonical SPDI:: NC_000014.9:80337207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:80337207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:80337207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:80337207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:80337207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:80337207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:80337207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:80337207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:80337207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:80337207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:80337207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:80337207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:80337207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:80337207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:80337207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:80337207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:80337207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:80337207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:80337207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTAAAAACTAAGAAAATCCAATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:80337207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:80337207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:80337207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:80337207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:80337207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:80337207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:80337207:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DIO2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000014.9:g.80337219_80337232del, NC_000014.9:g.80337220_80337232del, NC_000014.9:g.80337221_80337232del, NC_000014.9:g.80337222_80337232del, NC_000014.9:g.80337223_80337232del, NC_000014.9:g.80337224_80337232del, NC_000014.9:g.80337225_80337232del, NC_000014.9:g.80337226_80337232del, NC_000014.9:g.80337227_80337232del, NC_000014.9:g.80337228_80337232del, NC_000014.9:g.80337229_80337232del, NC_000014.9:g.80337230_80337232del, NC_000014.9:g.80337231_80337232del, NC_000014.9:g.80337232del, NC_000014.9:g.80337232dup, NC_000014.9:g.80337231_80337232dup, NC_000014.9:g.80337230_80337232dup, NC_000014.9:g.80337229_80337232dup, NC_000014.9:g.80337208_80337232T[29]A[5]CTAAGAAAATCCAATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.9:g.80337228_80337232dup, NC_000014.9:g.80337227_80337232dup, NC_000014.9:g.80337226_80337232dup, NC_000014.9:g.80337225_80337232dup, NC_000014.9:g.80337224_80337232dup, NC_000014.9:g.80337214_80337232dup, NC_000014.9:g.80337232_80337233insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.80803562_80803575del, NC_000014.8:g.80803563_80803575del, NC_000014.8:g.80803564_80803575del, NC_000014.8:g.80803565_80803575del, NC_000014.8:g.80803566_80803575del, NC_000014.8:g.80803567_80803575del, NC_000014.8:g.80803568_80803575del, NC_000014.8:g.80803569_80803575del, NC_000014.8:g.80803570_80803575del, NC_000014.8:g.80803571_80803575del, NC_000014.8:g.80803572_80803575del, NC_000014.8:g.80803573_80803575del, NC_000014.8:g.80803574_80803575del, NC_000014.8:g.80803575del, NC_000014.8:g.80803575dup, NC_000014.8:g.80803574_80803575dup, NC_000014.8:g.80803573_80803575dup, NC_000014.8:g.80803572_80803575dup, NC_000014.8:g.80803551_80803575T[29]A[5]CTAAGAAAATCCAATGTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000014.8:g.80803571_80803575dup, NC_000014.8:g.80803570_80803575dup, NC_000014.8:g.80803569_80803575dup, NC_000014.8:g.80803568_80803575dup, NC_000014.8:g.80803567_80803575dup, NC_000014.8:g.80803557_80803575dup, NC_000014.8:g.80803575_80803576insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149128941017.

rs1491289410 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 14:80278394 (GRCh38)
14:80744737 (GRCh37)
Canonical SPDI:: NC_000014.9:80278393:AA:
Gene:: DIO2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000019/5 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000014.9:g.80278394_80278395del, NC_000014.8:g.80744737_80744738del

Select item 149124325018.

rs1491243250 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAA [Show Flanks]
Chromosome:: 14:80274512 (GRCh38)
14:80740856 (GRCh37)
Canonical SPDI:: NC_000014.9:80274512:AATAA:AATAATAA
Gene:: DIO2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AATAATAA=0.000506/6 (ALFA)
AAT=0.000757/99 (GnomAD)
HGVS:: NC_000014.9:g.80274515_80274517dup, NC_000014.8:g.80740858_80740860dup

Select item 149123030819.

rs1491230308 [Homo sapiens]

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

Select item 149119550420.

rs1491195504 has merged into rs1464836687 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 14:80274512 (GRCh38)
14:80740855 (GRCh37)
Canonical SPDI:: NC_000014.9:80274511:AAA:AA
Gene:: DIO2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0.00008/1 (ALFA)
HGVS:: NC_000014.9:g.80274514del, NC_000014.8:g.80740857del

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