SNP Links for Gene (Select 9934) - SNP

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Select item 14915679421.

rs1491567942 has merged into rs527914597 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:151256858 (GRCh38)
3:150974646 (GRCh37)
Canonical SPDI:: NC_000003.12:151256849:TTTTTTTTTT:TTTTTTTT,NC_000003.12:151256849:TTTTTTTTTT:TTTTTTTTT,NC_000003.12:151256849:TTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:151256849:TTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:151256849:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: P2RY14 (Varview), MED12L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
T=0.00667/4 (NorthernSweden)
HGVS:: NC_000003.12:g.151256858_151256859del, NC_000003.12:g.151256859del, NC_000003.12:g.151256859dup, NC_000003.12:g.151256858_151256859dup, NC_000003.12:g.151256850_151256859dup, NC_000003.11:g.150974646_150974647del, NC_000003.11:g.150974647del, NC_000003.11:g.150974647dup, NC_000003.11:g.150974646_150974647dup, NC_000003.11:g.150974638_150974647dup, NG_021244.1:g.174971_174972del, NG_021244.1:g.174972del, NG_021244.1:g.174972dup, NG_021244.1:g.174971_174972dup, NG_021244.1:g.174963_174972dup

Select item 14915045062.

rs1491504506 has merged into rs1553763006 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTG>-,TG,TGTGTG [Show Flanks]
Chromosome:: 3:151264786 (GRCh38)
3:150982574 (GRCh37)
Canonical SPDI:: NC_000003.12:151264777:TGTGTGTGTGTG:TGTGTGTG,NC_000003.12:151264777:TGTGTGTGTGTG:TGTGTGTGTG,NC_000003.12:151264777:TGTGTGTGTGTG:TGTGTGTGTGTGTG
Gene:: P2RY14 (Varview), MED12L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTG=0./0 (ALFA)
-=0.00566/21 (TWINSUK)
-=0.00986/38 (ALSPAC)
HGVS:: NC_000003.12:g.151264778TG[4], NC_000003.12:g.151264778TG[5], NC_000003.12:g.151264778TG[7], NC_000003.11:g.150982566TG[4], NC_000003.11:g.150982566TG[5], NC_000003.11:g.150982566TG[7], NG_021244.1:g.182891TG[4], NG_021244.1:g.182891TG[5], NG_021244.1:g.182891TG[7]

Select item 14914945803.

rs1491494580 has merged into rs1338324671 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTTT [Show Flanks]
Chromosome:: 3:151270243 (GRCh38)
3:150988031 (GRCh37)
Canonical SPDI:: NC_000003.12:151270241:TTTT:T,NC_000003.12:151270241:TTTT:TT,NC_000003.12:151270241:TTTT:TTT,NC_000003.12:151270241:TTTT:TTTTTT
Gene:: P2RY14 (Varview), MED12L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.151270243_151270245del, NC_000003.12:g.151270244_151270245del, NC_000003.12:g.151270245del, NC_000003.12:g.151270244_151270245dup, NC_000003.11:g.150988031_150988033del, NC_000003.11:g.150988032_150988033del, NC_000003.11:g.150988033del, NC_000003.11:g.150988032_150988033dup, NG_025756.2:g.902_904del, NG_025756.2:g.903_904del, NG_025756.2:g.904del, NG_025756.2:g.903_904dup, NG_021244.1:g.188356_188358del, NG_021244.1:g.188357_188358del, NG_021244.1:g.188358del, NG_021244.1:g.188357_188358dup

Select item 14914809694.

rs1491480969 has merged into rs71801434 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACACACACACACACACA>-,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 3:151269412 (GRCh38)
3:150987200 (GRCh37)
Canonical SPDI:: NC_000003.12:151269397:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACA,NC_000003.12:151269397:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACA,NC_000003.12:151269397:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACA,NC_000003.12:151269397:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACA,NC_000003.12:151269397:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000003.12:151269397:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000003.12:151269397:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACA,NC_000003.12:151269397:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000003.12:151269397:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA,NC_000003.12:151269397:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA,NC_000003.12:151269397:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA,NC_000003.12:151269397:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA,NC_000003.12:151269397:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA,NC_000003.12:151269397:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:151269397:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:151269397:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:151269397:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:151269397:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:151269397:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:151269397:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:151269397:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:151269397:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:151269397:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:151269397:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:151269397:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:151269397:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:151269397:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:151269397:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000003.12:151269397:CACACACACACACACACACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: P2RY14 (Varview), MED12L (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACA=0./0 (ALFA)
CACACACACA=0.4058/2032 (1000Genomes)
CACA=0.5/20 (GENOME_DK)
HGVS:: NC_000003.12:g.151269398CA[7], NC_000003.12:g.151269398CA[9], NC_000003.12:g.151269398CA[10], NC_000003.12:g.151269398CA[11], NC_000003.12:g.151269398CA[12], NC_000003.12:g.151269398CA[13], NC_000003.12:g.151269398CA[14], NC_000003.12:g.151269398CA[15], NC_000003.12:g.151269398CA[16], NC_000003.12:g.151269398CA[17], NC_000003.12:g.151269398CA[18], NC_000003.12:g.151269398CA[19], NC_000003.12:g.151269398CA[20], NC_000003.12:g.151269398CA[21], NC_000003.12:g.151269398CA[23], NC_000003.12:g.151269398CA[24], NC_000003.12:g.151269398CA[25], NC_000003.12:g.151269398CA[26], NC_000003.12:g.151269398CA[27], NC_000003.12:g.151269398CA[28], NC_000003.12:g.151269398CA[29], NC_000003.12:g.151269398CA[30], NC_000003.12:g.151269398CA[31], NC_000003.12:g.151269398CA[32], NC_000003.12:g.151269398CA[33], NC_000003.12:g.151269398CA[34], NC_000003.12:g.151269398CA[35], NC_000003.12:g.151269398CA[36], NC_000003.12:g.151269398CA[38], NC_000003.11:g.150987186CA[7], NC_000003.11:g.150987186CA[9], NC_000003.11:g.150987186CA[10], NC_000003.11:g.150987186CA[11], NC_000003.11:g.150987186CA[12], NC_000003.11:g.150987186CA[13], NC_000003.11:g.150987186CA[14], NC_000003.11:g.150987186CA[15], NC_000003.11:g.150987186CA[16], NC_000003.11:g.150987186CA[17], NC_000003.11:g.150987186CA[18], NC_000003.11:g.150987186CA[19], NC_000003.11:g.150987186CA[20], NC_000003.11:g.150987186CA[21], NC_000003.11:g.150987186CA[23], NC_000003.11:g.150987186CA[24], NC_000003.11:g.150987186CA[25], NC_000003.11:g.150987186CA[26], NC_000003.11:g.150987186CA[27], NC_000003.11:g.150987186CA[28], NC_000003.11:g.150987186CA[29], NC_000003.11:g.150987186CA[30], NC_000003.11:g.150987186CA[31], NC_000003.11:g.150987186CA[32], NC_000003.11:g.150987186CA[33], NC_000003.11:g.150987186CA[34], NC_000003.11:g.150987186CA[35], NC_000003.11:g.150987186CA[36], NC_000003.11:g.150987186CA[38], NG_025756.2:g.57CA[7], NG_025756.2:g.57CA[9], NG_025756.2:g.57CA[10], NG_025756.2:g.57CA[11], NG_025756.2:g.57CA[12], NG_025756.2:g.57CA[13], NG_025756.2:g.57CA[14], NG_025756.2:g.57CA[15], NG_025756.2:g.57CA[16], NG_025756.2:g.57CA[17], NG_025756.2:g.57CA[18], NG_025756.2:g.57CA[19], NG_025756.2:g.57CA[20], NG_025756.2:g.57CA[21], NG_025756.2:g.57CA[23], NG_025756.2:g.57CA[24], NG_025756.2:g.57CA[25], NG_025756.2:g.57CA[26], NG_025756.2:g.57CA[27], NG_025756.2:g.57CA[28], NG_025756.2:g.57CA[29], NG_025756.2:g.57CA[30], NG_025756.2:g.57CA[31], NG_025756.2:g.57CA[32], NG_025756.2:g.57CA[33], NG_025756.2:g.57CA[34], NG_025756.2:g.57CA[35], NG_025756.2:g.57CA[36], NG_025756.2:g.57CA[38], NG_021244.1:g.187511CA[7], NG_021244.1:g.187511CA[9], NG_021244.1:g.187511CA[10], NG_021244.1:g.187511CA[11], NG_021244.1:g.187511CA[12], NG_021244.1:g.187511CA[13], NG_021244.1:g.187511CA[14], NG_021244.1:g.187511CA[15], NG_021244.1:g.187511CA[16], NG_021244.1:g.187511CA[17], NG_021244.1:g.187511CA[18], NG_021244.1:g.187511CA[19], NG_021244.1:g.187511CA[20], NG_021244.1:g.187511CA[21], NG_021244.1:g.187511CA[23], NG_021244.1:g.187511CA[24], NG_021244.1:g.187511CA[25], NG_021244.1:g.187511CA[26], NG_021244.1:g.187511CA[27], NG_021244.1:g.187511CA[28], NG_021244.1:g.187511CA[29], NG_021244.1:g.187511CA[30], NG_021244.1:g.187511CA[31], NG_021244.1:g.187511CA[32], NG_021244.1:g.187511CA[33], NG_021244.1:g.187511CA[34], NG_021244.1:g.187511CA[35], NG_021244.1:g.187511CA[36], NG_021244.1:g.187511CA[38]

Select item 14913433905.

rs1491343390 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 3:151268254 (GRCh38)
3:150986043 (GRCh37)
Canonical SPDI:: NC_000003.12:151268254:A:ACA
Gene:: P2RY14 (Varview), MED12L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACA=0./0 (ALFA)
AC=0.000004/1 (TOPMED)
AC=0.000016/1 (GnomAD)
HGVS:: NC_000003.12:g.151268255_151268256insCA, NC_000003.11:g.150986043_150986044insCA, NG_021244.1:g.186368_186369insCA

Select item 14913426676.

rs1491342667 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:151258851 (GRCh38)
3:150976639 (GRCh37)
Canonical SPDI:: NC_000003.12:151258850:CA:
Gene:: P2RY14 (Varview), MED12L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00363/43 (ALFA)
HGVS:: NC_000003.12:g.151258851_151258852del, NC_000003.11:g.150976639_150976640del, NG_021244.1:g.176964_176965del

Select item 14912815577.

rs1491281557 has merged into rs141293857 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCC>-,C,CC,CCC,CCCCC,CCCCCC,CCCCCCC [Show Flanks]
Chromosome:: 3:151219902 (GRCh38)
3:150937690 (GRCh37)
Canonical SPDI:: NC_000003.12:151219891:CCCCCCCCCCCCCC:CCCCCCCCCC,NC_000003.12:151219891:CCCCCCCCCCCCCC:CCCCCCCCCCC,NC_000003.12:151219891:CCCCCCCCCCCCCC:CCCCCCCCCCCC,NC_000003.12:151219891:CCCCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000003.12:151219891:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000003.12:151219891:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCC,NC_000003.12:151219891:CCCCCCCCCCCCCC:CCCCCCCCCCCCCCCCC
Gene:: P2RY14 (Varview), MED12L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCCCCCCC=0./0 (ALFA)
CC=0.0244/122 (1000Genomes)
HGVS:: NC_000003.12:g.151219902_151219905del, NC_000003.12:g.151219903_151219905del, NC_000003.12:g.151219904_151219905del, NC_000003.12:g.151219905del, NC_000003.12:g.151219905dup, NC_000003.12:g.151219904_151219905dup, NC_000003.12:g.151219903_151219905dup, NC_000003.11:g.150937690_150937693del, NC_000003.11:g.150937691_150937693del, NC_000003.11:g.150937692_150937693del, NC_000003.11:g.150937693del, NC_000003.11:g.150937693dup, NC_000003.11:g.150937692_150937693dup, NC_000003.11:g.150937691_150937693dup, NG_021244.1:g.138015_138018del, NG_021244.1:g.138016_138018del, NG_021244.1:g.138017_138018del, NG_021244.1:g.138018del, NG_021244.1:g.138018dup, NG_021244.1:g.138017_138018dup, NG_021244.1:g.138016_138018dup

Select item 14912487388.

rs1491248738 has merged into rs10645730 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATA>-,TA,TATA,TATATATA,TATATATATA [Show Flanks]
Chromosome:: 3:151268262 (GRCh38)
3:150986050 (GRCh37)
Canonical SPDI:: NC_000003.12:151268253:TATATATATATATA:TATATATA,NC_000003.12:151268253:TATATATATATATA:TATATATATA,NC_000003.12:151268253:TATATATATATATA:TATATATATATA,NC_000003.12:151268253:TATATATATATATA:TATATATATATATATA,NC_000003.12:151268253:TATATATATATATA:TATATATATATATATATA
Gene:: P2RY14 (Varview), MED12L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATA=0./0 (ALFA)
TA=0.2756/275 (GoNL)
TA=0.3/12 (GENOME_DK)
TA=0.3016/1345 (Estonian)
TA=0.335/201 (NorthernSweden)
TA=0.405/2028 (1000Genomes)
HGVS:: NC_000003.12:g.151268254TA[4], NC_000003.12:g.151268254TA[5], NC_000003.12:g.151268254TA[6], NC_000003.12:g.151268254TA[8], NC_000003.12:g.151268254TA[9], NC_000003.11:g.150986042TA[4], NC_000003.11:g.150986042TA[5], NC_000003.11:g.150986042TA[6], NC_000003.11:g.150986042TA[8], NC_000003.11:g.150986042TA[9], NG_021244.1:g.186367TA[4], NG_021244.1:g.186367TA[5], NG_021244.1:g.186367TA[6], NG_021244.1:g.186367TA[8], NG_021244.1:g.186367TA[9]

Select item 14911616129.

rs1491161612 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 3:151256850 (GRCh38)
3:150974639 (GRCh37)
Canonical SPDI:: NC_000003.12:151256850::G
Gene:: P2RY14 (Varview), MED12L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/1 (GnomAD)
HGVS:: NC_000003.12:g.151256850_151256851insG, NC_000003.11:g.150974638_150974639insG, NG_021244.1:g.174963_174964insG

Select item 149115821110.

rs1491158211 has merged into rs57239604 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:151237356 (GRCh38)
3:150955144 (GRCh37)
Canonical SPDI:: NC_000003.12:151237350:TTTTTTTTTTTTTTTT:TTTTT,NC_000003.12:151237350:TTTTTTTTTTTTTTTT:TTTTTT,NC_000003.12:151237350:TTTTTTTTTTTTTTTT:TTTTTTT,NC_000003.12:151237350:TTTTTTTTTTTTTTTT:TTTTTTTT,NC_000003.12:151237350:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:151237350:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:151237350:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:151237350:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:151237350:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:151237350:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:151237350:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:151237350:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:151237350:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:151237350:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:151237350:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151237350:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151237350:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151237350:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151237350:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151237350:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151237350:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151237350:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: P2RY14 (Varview), MED12L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
HGVS:: NC_000003.12:g.151237356_151237366del, NC_000003.12:g.151237357_151237366del, NC_000003.12:g.151237358_151237366del, NC_000003.12:g.151237359_151237366del, NC_000003.12:g.151237360_151237366del, NC_000003.12:g.151237362_151237366del, NC_000003.12:g.151237363_151237366del, NC_000003.12:g.151237364_151237366del, NC_000003.12:g.151237365_151237366del, NC_000003.12:g.151237366del, NC_000003.12:g.151237366dup, NC_000003.12:g.151237365_151237366dup, NC_000003.12:g.151237364_151237366dup, NC_000003.12:g.151237363_151237366dup, NC_000003.12:g.151237362_151237366dup, NC_000003.12:g.151237361_151237366dup, NC_000003.12:g.151237360_151237366dup, NC_000003.12:g.151237359_151237366dup, NC_000003.12:g.151237358_151237366dup, NC_000003.12:g.151237357_151237366dup, NC_000003.12:g.151237356_151237366dup, NC_000003.12:g.151237366_151237367insTTTTTTTTTTTTTTTTT, NC_000003.11:g.150955144_150955154del, NC_000003.11:g.150955145_150955154del, NC_000003.11:g.150955146_150955154del, NC_000003.11:g.150955147_150955154del, NC_000003.11:g.150955148_150955154del, NC_000003.11:g.150955150_150955154del, NC_000003.11:g.150955151_150955154del, NC_000003.11:g.150955152_150955154del, NC_000003.11:g.150955153_150955154del, NC_000003.11:g.150955154del, NC_000003.11:g.150955154dup, NC_000003.11:g.150955153_150955154dup, NC_000003.11:g.150955152_150955154dup, NC_000003.11:g.150955151_150955154dup, NC_000003.11:g.150955150_150955154dup, NC_000003.11:g.150955149_150955154dup, NC_000003.11:g.150955148_150955154dup, NC_000003.11:g.150955147_150955154dup, NC_000003.11:g.150955146_150955154dup, NC_000003.11:g.150955145_150955154dup, NC_000003.11:g.150955144_150955154dup, NC_000003.11:g.150955154_150955155insTTTTTTTTTTTTTTTTT, NG_021244.1:g.155469_155479del, NG_021244.1:g.155470_155479del, NG_021244.1:g.155471_155479del, NG_021244.1:g.155472_155479del, NG_021244.1:g.155473_155479del, NG_021244.1:g.155475_155479del, NG_021244.1:g.155476_155479del, NG_021244.1:g.155477_155479del, NG_021244.1:g.155478_155479del, NG_021244.1:g.155479del, NG_021244.1:g.155479dup, NG_021244.1:g.155478_155479dup, NG_021244.1:g.155477_155479dup, NG_021244.1:g.155476_155479dup, NG_021244.1:g.155475_155479dup, NG_021244.1:g.155474_155479dup, NG_021244.1:g.155473_155479dup, NG_021244.1:g.155472_155479dup, NG_021244.1:g.155471_155479dup, NG_021244.1:g.155470_155479dup, NG_021244.1:g.155469_155479dup, NG_021244.1:g.155479_155480insTTTTTTTTTTTTTTTTT

Select item 149113314011.

rs1491133140 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TA [Show Flanks]
Chromosome:: 3:151269398 (GRCh38)
3:150987187 (GRCh37)
Canonical SPDI:: NC_000003.12:151269398:A:ATA
Gene:: P2RY14 (Varview), MED12L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
AT=0.12876/120 (GnomAD)
HGVS:: NC_000003.12:g.151269399_151269400insTA, NC_000003.11:g.150987187_150987188insTA, NG_025756.2:g.58_59insTA, NG_021244.1:g.187512_187513insTA

Select item 149110291812.

rs1491102918 has merged into rs61102632 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTCTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTCTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTCTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTCTTGGAAATATTTTTGGGTTTTTTTTTTTCTTTTTTTTTTATTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTCTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTCTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:151247972 (GRCh38)
3:150965760 (GRCh37)
Canonical SPDI:: NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTCTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTCTTCTTTTTCTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTCTTGGAAATATTTTTGGGTTTTTTTTTTTCTTTTTTTTTTATTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTCTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTCTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:151247962:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: P2RY14 (Varview), MED12L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000003.12:g.151247972_151247985del, NC_000003.12:g.151247973_151247985del, NC_000003.12:g.151247974_151247985del, NC_000003.12:g.151247975_151247985del, NC_000003.12:g.151247976_151247985del, NC_000003.12:g.151247977_151247985del, NC_000003.12:g.151247978_151247985del, NC_000003.12:g.151247979_151247985del, NC_000003.12:g.151247980_151247985del, NC_000003.12:g.151247981_151247985del, NC_000003.12:g.151247982_151247985del, NC_000003.12:g.151247983_151247985del, NC_000003.12:g.151247984_151247985del, NC_000003.12:g.151247985del, NC_000003.12:g.151247985dup, NC_000003.12:g.151247984_151247985dup, NC_000003.12:g.151247963_151247985T[25]CTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.151247983_151247985dup, NC_000003.12:g.151247963_151247985T[26]CTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.151247963_151247985T[26]CTT[2]TTTCTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.151247963_151247985T[26]CTTGGAAATATTTTTGGGTTTTTTTTTTTCTTTTTTTTTTATTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.151247963_151247985T[26]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.151247982_151247985dup, NC_000003.12:g.151247963_151247985T[27]CTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.151247963_151247985T[27]CTT[2]T[34], NC_000003.12:g.151247963_151247985T[27]CTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.151247963_151247985T[27]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.151247981_151247985dup, NC_000003.12:g.151247980_151247985dup, NC_000003.12:g.151247963_151247985T[29]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.151247979_151247985dup, NC_000003.12:g.151247963_151247985T[30]GTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.151247978_151247985dup, NC_000003.12:g.151247977_151247985dup, NC_000003.12:g.151247976_151247985dup, NC_000003.12:g.151247963_151247985T[33]CTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.12:g.151247975_151247985dup, NC_000003.12:g.151247974_151247985dup, NC_000003.12:g.151247973_151247985dup, NC_000003.12:g.151247972_151247985dup, NC_000003.12:g.151247971_151247985dup, NC_000003.12:g.151247970_151247985dup, NC_000003.12:g.151247969_151247985dup, NC_000003.12:g.151247968_151247985dup, NC_000003.12:g.151247967_151247985dup, NC_000003.12:g.151247966_151247985dup, NC_000003.12:g.151247965_151247985dup, NC_000003.12:g.151247964_151247985dup, NC_000003.12:g.151247963_151247985dup, NC_000003.12:g.151247985_151247986insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.151247985_151247986insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.151247985_151247986insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.151247985_151247986insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.12:g.151247985_151247986insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.150965760_150965773del, NC_000003.11:g.150965761_150965773del, NC_000003.11:g.150965762_150965773del, NC_000003.11:g.150965763_150965773del, NC_000003.11:g.150965764_150965773del, NC_000003.11:g.150965765_150965773del, NC_000003.11:g.150965766_150965773del, NC_000003.11:g.150965767_150965773del, NC_000003.11:g.150965768_150965773del, NC_000003.11:g.150965769_150965773del, NC_000003.11:g.150965770_150965773del, NC_000003.11:g.150965771_150965773del, NC_000003.11:g.150965772_150965773del, NC_000003.11:g.150965773del, NC_000003.11:g.150965773dup, NC_000003.11:g.150965772_150965773dup, NC_000003.11:g.150965751_150965773T[25]CTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.150965771_150965773dup, NC_000003.11:g.150965751_150965773T[26]CTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.150965751_150965773T[26]CTT[2]TTTCTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.150965751_150965773T[26]CTTGGAAATATTTTTGGGTTTTTTTTTTTCTTTTTTTTTTATTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.150965751_150965773T[26]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.150965770_150965773dup, NC_000003.11:g.150965751_150965773T[27]CTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.150965751_150965773T[27]CTT[2]T[34], NC_000003.11:g.150965751_150965773T[27]CTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.150965751_150965773T[27]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.150965769_150965773dup, NC_000003.11:g.150965768_150965773dup, NC_000003.11:g.150965751_150965773T[29]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.150965767_150965773dup, NC_000003.11:g.150965751_150965773T[30]GTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.150965766_150965773dup, NC_000003.11:g.150965765_150965773dup, NC_000003.11:g.150965764_150965773dup, NC_000003.11:g.150965751_150965773T[33]CTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000003.11:g.150965763_150965773dup, NC_000003.11:g.150965762_150965773dup, NC_000003.11:g.150965761_150965773dup, NC_000003.11:g.150965760_150965773dup, NC_000003.11:g.150965759_150965773dup, NC_000003.11:g.150965758_150965773dup, NC_000003.11:g.150965757_150965773dup, NC_000003.11:g.150965756_150965773dup, NC_000003.11:g.150965755_150965773dup, NC_000003.11:g.150965754_150965773dup, NC_000003.11:g.150965753_150965773dup, NC_000003.11:g.150965752_150965773dup, NC_000003.11:g.150965751_150965773dup, NC_000003.11:g.150965773_150965774insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.150965773_150965774insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.150965773_150965774insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.150965773_150965774insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000003.11:g.150965773_150965774insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021244.1:g.166085_166098del, NG_021244.1:g.166086_166098del, NG_021244.1:g.166087_166098del, NG_021244.1:g.166088_166098del, NG_021244.1:g.166089_166098del, NG_021244.1:g.166090_166098del, NG_021244.1:g.166091_166098del, NG_021244.1:g.166092_166098del, NG_021244.1:g.166093_166098del, NG_021244.1:g.166094_166098del, NG_021244.1:g.166095_166098del, NG_021244.1:g.166096_166098del, NG_021244.1:g.166097_166098del, NG_021244.1:g.166098del, NG_021244.1:g.166098dup, NG_021244.1:g.166097_166098dup, NG_021244.1:g.166076_166098T[25]CTTTTTGTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_021244.1:g.166096_166098dup, NG_021244.1:g.166076_166098T[26]CTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_021244.1:g.166076_166098T[26]CTT[2]TTTCTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_021244.1:g.166076_166098T[26]CTTGGAAATATTTTTGGGTTTTTTTTTTTCTTTTTTTTTTATTTTTTTATTTTTTTTTTTTTTTTTTTTTTTT[1], NG_021244.1:g.166076_166098T[26]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_021244.1:g.166095_166098dup, NG_021244.1:g.166076_166098T[27]CTTATTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_021244.1:g.166076_166098T[27]CTT[2]T[34], NG_021244.1:g.166076_166098T[27]CTTTTTTATTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_021244.1:g.166076_166098T[27]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_021244.1:g.166094_166098dup, NG_021244.1:g.166093_166098dup, NG_021244.1:g.166076_166098T[29]ATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_021244.1:g.166092_166098dup, NG_021244.1:g.166076_166098T[30]GTATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_021244.1:g.166091_166098dup, NG_021244.1:g.166090_166098dup, NG_021244.1:g.166089_166098dup, NG_021244.1:g.166076_166098T[33]CTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_021244.1:g.166088_166098dup, NG_021244.1:g.166087_166098dup, NG_021244.1:g.166086_166098dup, NG_021244.1:g.166085_166098dup, NG_021244.1:g.166084_166098dup, NG_021244.1:g.166083_166098dup, NG_021244.1:g.166082_166098dup, NG_021244.1:g.166081_166098dup, NG_021244.1:g.166080_166098dup, NG_021244.1:g.166079_166098dup, NG_021244.1:g.166078_166098dup, NG_021244.1:g.166077_166098dup, NG_021244.1:g.166076_166098dup, NG_021244.1:g.166098_166099insTTTTTTTTTTTTTTTTTTTTTTTT, NG_021244.1:g.166098_166099insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021244.1:g.166098_166099insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021244.1:g.166098_166099insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_021244.1:g.166098_166099insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149105828113.

rs1491058281 has merged into rs71138490 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 3:151247767 (GRCh38)
3:150965555 (GRCh37)
Canonical SPDI:: NC_000003.12:151247761:AAAAAAAAAAA:AAAAA,NC_000003.12:151247761:AAAAAAAAAAA:AAAAAA,NC_000003.12:151247761:AAAAAAAAAAA:AAAAAAA,NC_000003.12:151247761:AAAAAAAAAAA:AAAAAAAA,NC_000003.12:151247761:AAAAAAAAAAA:AAAAAAAAA,NC_000003.12:151247761:AAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:151247761:AAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:151247761:AAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:151247761:AAAAAAAAAAA:AAAAAAAAAAAAAA
Gene:: P2RY14 (Varview), MED12L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0./0 (ALFA)
-=0.4393/2200 (1000Genomes)
HGVS:: NC_000003.12:g.151247767_151247772del, NC_000003.12:g.151247768_151247772del, NC_000003.12:g.151247769_151247772del, NC_000003.12:g.151247770_151247772del, NC_000003.12:g.151247771_151247772del, NC_000003.12:g.151247772del, NC_000003.12:g.151247772dup, NC_000003.12:g.151247771_151247772dup, NC_000003.12:g.151247770_151247772dup, NC_000003.11:g.150965555_150965560del, NC_000003.11:g.150965556_150965560del, NC_000003.11:g.150965557_150965560del, NC_000003.11:g.150965558_150965560del, NC_000003.11:g.150965559_150965560del, NC_000003.11:g.150965560del, NC_000003.11:g.150965560dup, NC_000003.11:g.150965559_150965560dup, NC_000003.11:g.150965558_150965560dup, NG_021244.1:g.165880_165885del, NG_021244.1:g.165881_165885del, NG_021244.1:g.165882_165885del, NG_021244.1:g.165883_165885del, NG_021244.1:g.165884_165885del, NG_021244.1:g.165885del, NG_021244.1:g.165885dup, NG_021244.1:g.165884_165885dup, NG_021244.1:g.165883_165885dup

Select item 149102518314.

rs1491025183 has merged into rs80099332 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 3:151224456 (GRCh38)
3:150942244 (GRCh37)
Canonical SPDI:: NC_000003.12:151224446:TTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:151224446:TTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:151224446:TTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:151224446:TTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:151224446:TTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:151224446:TTTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: P2RY14 (Varview), MED12L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.225/9 (GENOME_DK)
HGVS:: NC_000003.12:g.151224456_151224459del, NC_000003.12:g.151224457_151224459del, NC_000003.12:g.151224458_151224459del, NC_000003.12:g.151224459del, NC_000003.12:g.151224459dup, NC_000003.12:g.151224458_151224459dup, NC_000003.11:g.150942244_150942247del, NC_000003.11:g.150942245_150942247del, NC_000003.11:g.150942246_150942247del, NC_000003.11:g.150942247del, NC_000003.11:g.150942247dup, NC_000003.11:g.150942246_150942247dup, NG_021244.1:g.142569_142572del, NG_021244.1:g.142570_142572del, NG_021244.1:g.142571_142572del, NG_021244.1:g.142572del, NG_021244.1:g.142572dup, NG_021244.1:g.142571_142572dup

Select item 149100432515.

rs1491004325 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:151270371 (GRCh38)
3:150988159 (GRCh37)
Canonical SPDI:: NC_000003.12:151270370:C:T
Gene:: P2RY14 (Varview), MED12L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.151270371C>T, NC_000003.11:g.150988159C>T, NG_021244.1:g.188484C>T

Select item 149094062116.

rs1490940621 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:151222678 (GRCh38)
3:150940466 (GRCh37)
Canonical SPDI:: NC_000003.12:151222677:T:C
Gene:: P2RY14 (Varview), MED12L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.151222678T>C, NC_000003.11:g.150940466T>C, NG_021244.1:g.140791T>C

Select item 149092388817.

rs1490923888 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:151221870 (GRCh38)
3:150939658 (GRCh37)
Canonical SPDI:: NC_000003.12:151221869:C:G,NC_000003.12:151221869:C:T
Gene:: P2RY14 (Varview), MED12L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.151221870C>G, NC_000003.12:g.151221870C>T, NC_000003.11:g.150939658C>G, NC_000003.11:g.150939658C>T, NG_021244.1:g.139983C>G, NG_021244.1:g.139983C>T

Select item 149091712918.

rs1490917129 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:151214365 (GRCh38)
3:150932153 (GRCh37)
Canonical SPDI:: NC_000003.12:151214364:C:T
Gene:: P2RY14 (Varview), MED12L (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000005/1 (GnomAD_exomes)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.151214365C>T, NC_000003.11:g.150932153C>T, NG_021244.1:g.132478C>T

Select item 149086855519.

rs1490868555 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAG>- [Show Flanks]
Chromosome:: 3:151255401 (GRCh38)
3:150973189 (GRCh37)
Canonical SPDI:: NC_000003.12:151255398:AGTAG:AG
Gene:: P2RY14 (Varview), MED12L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AG=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
-=0.000142/2 (TOMMO)
HGVS:: NC_000003.12:g.151255401_151255403del, NC_000003.11:g.150973189_150973191del, NG_021244.1:g.173514_173516del

Select item 149084519820.

rs1490845198 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:151269629 (GRCh38)
3:150987417 (GRCh37)
Canonical SPDI:: NC_000003.12:151269628:C:T
Gene:: P2RY14 (Varview), MED12L (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.151269629C>T, NC_000003.11:g.150987417C>T, NG_025756.2:g.288C>T, NG_021244.1:g.187742C>T

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