SNP Links for Gene (Select 101926943) - SNP

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Select item 14914049301.

rs1491404930 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 7:74711950 (GRCh38)
7:74126282 (GRCh37)
Canonical SPDI:: NC_000007.14:74711950::C
Gene:: GTF2I (Varview), GTF2I-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000018/2 (GnomAD)
HGVS:: NC_000007.14:g.74711950_74711951insC, NW_003871064.1:g.2241186_2241187insC, NG_008179.2:g.59261_59262insC, NC_000007.13:g.74126281_74126282insC

Select item 14913050952.

rs1491305095 has merged into rs587731254 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,TT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:74711958 (GRCh38)
7:74126289 (GRCh37)
Canonical SPDI:: NC_000007.14:74711949:TTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000007.14:74711949:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:74711949:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:74711949:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:74711949:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:74711949:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:74711949:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:74711949:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:74711949:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:74711949:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:74711949:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:74711949:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:74711949:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:74711949:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GTF2I (Varview), GTF2I-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.092452/463 (1000Genomes)
HGVS:: NC_000007.14:g.74711958_74711967del, NC_000007.14:g.74711960_74711967del, NC_000007.14:g.74711963_74711967del, NC_000007.14:g.74711964_74711967del, NC_000007.14:g.74711965_74711967del, NC_000007.14:g.74711966_74711967del, NC_000007.14:g.74711967del, NC_000007.14:g.74711967dup, NC_000007.14:g.74711966_74711967dup, NC_000007.14:g.74711965_74711967dup, NC_000007.14:g.74711964_74711967dup, NC_000007.14:g.74711963_74711967dup, NC_000007.14:g.74711962_74711967dup, NC_000007.14:g.74711959_74711967dup, NW_003871064.1:g.2241194_2241203del, NW_003871064.1:g.2241196_2241203del, NW_003871064.1:g.2241199_2241203del, NW_003871064.1:g.2241200_2241203del, NW_003871064.1:g.2241201_2241203del, NW_003871064.1:g.2241202_2241203del, NW_003871064.1:g.2241203del, NW_003871064.1:g.2241203dup, NW_003871064.1:g.2241202_2241203dup, NW_003871064.1:g.2241201_2241203dup, NW_003871064.1:g.2241200_2241203dup, NW_003871064.1:g.2241199_2241203dup, NW_003871064.1:g.2241198_2241203dup, NW_003871064.1:g.2241195_2241203dup, NG_008179.2:g.59269_59278del, NG_008179.2:g.59271_59278del, NG_008179.2:g.59274_59278del, NG_008179.2:g.59275_59278del, NG_008179.2:g.59276_59278del, NG_008179.2:g.59277_59278del, NG_008179.2:g.59278del, NG_008179.2:g.59278dup, NG_008179.2:g.59277_59278dup, NG_008179.2:g.59276_59278dup, NG_008179.2:g.59275_59278dup, NG_008179.2:g.59274_59278dup, NG_008179.2:g.59273_59278dup, NG_008179.2:g.59270_59278dup, NC_000007.13:g.74126289_74126298del, NC_000007.13:g.74126291_74126298del, NC_000007.13:g.74126294_74126298del, NC_000007.13:g.74126295_74126298del, NC_000007.13:g.74126296_74126298del, NC_000007.13:g.74126297_74126298del, NC_000007.13:g.74126298del, NC_000007.13:g.74126298dup, NC_000007.13:g.74126297_74126298dup, NC_000007.13:g.74126296_74126298dup, NC_000007.13:g.74126295_74126298dup, NC_000007.13:g.74126294_74126298dup, NC_000007.13:g.74126293_74126298dup, NC_000007.13:g.74126290_74126298dup

Select item 14910765903.

rs1491076590 [Homo sapiens]

Variant type:: DELINS
Alleles:: GT>- [Show Flanks]
Chromosome:: 7:74697950 (GRCh38)
7:74112277 (GRCh37)
Canonical SPDI:: NC_000007.14:74697948:TGT:T
Gene:: GTF2I (Varview), GTF2I-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000253/3 (ALFA)
-=0.000037/5 (GnomAD)
-=0.000091/24 (TOPMED)
HGVS:: NC_000007.14:g.74697950_74697951del, NW_003871064.1:g.2227186_2227187del, NG_008179.2:g.45261_45262del, NC_000007.13:g.74112280dup, NC_000007.13:g.74112281del

Select item 14910517604.

rs1491051760 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 7:74703460 (GRCh38)
7:74117790 (GRCh37)
Canonical SPDI:: NC_000007.14:74703459:AC:
Gene:: GTF2I (Varview), GTF2I-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000008/1 (GnomAD)
HGVS:: NC_000007.14:g.74703460_74703461del, NW_003871064.1:g.2232696_2232697del, NG_008179.2:g.50771_50772del, NC_000007.13:g.74117789_74117790insC, NC_000007.13:g.74117789del

Select item 14910085455.

rs1491008545 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 7:74712537 (GRCh38)
7:74126856 (GRCh37)
Canonical SPDI:: NC_000007.14:74712536:TC:
Gene:: GTF2I (Varview), GTF2I-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00015/17 (GnomAD)
-=0.002186/4 (Korea1K)
-=0.002309/65 (TOMMO)
HGVS:: NC_000007.14:g.74712537_74712538del, NW_003871064.1:g.2241773_2241774del, NG_008179.2:g.59848_59849del, NC_000007.13:g.74126856dup, NC_000007.13:g.74126857del

Select item 14910034236.

rs1491003423 has merged into rs782076849 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTT [Show Flanks]
Chromosome:: 7:74717429 (GRCh38)
7:74131748 (GRCh37)
Canonical SPDI:: NC_000007.14:74717427:TTT:T,NC_000007.14:74717427:TTT:TTTT
Gene:: GTF2I (Varview), GTF2I-AS1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0./0 (ALFA)
-=0.000147/39 (TOPMED)
-=0.000312/2 (1000Genomes)
HGVS:: NC_000007.14:g.74717429_74717430del, NC_000007.14:g.74717430dup, NW_003871064.1:g.2246665_2246666del, NW_003871064.1:g.2246666dup, NG_008179.2:g.64740_64741del, NG_008179.2:g.64741dup, NC_000007.13:g.74131748_74131749del, NC_000007.13:g.74131749dup

Select item 14909746477.

rs1490974647 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:74702545 (GRCh38)
7:74116874 (GRCh37)
Canonical SPDI:: NC_000007.14:74702544:C:G
Gene:: GTF2I (Varview), GTF2I-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.74702545C>G, NW_003871064.1:g.2231781C>G, NG_008179.2:g.49856C>G, NC_000007.13:g.74116874C>G

Select item 14908251178.

rs1490825117 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:74726295 (GRCh38)
7:74140629 (GRCh37)
Canonical SPDI:: NC_000007.14:74726294:T:C
Gene:: GTF2I (Varview), GTF2I-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.74726295T>C, NW_003871064.1:g.2255531T>C, NG_008179.2:g.73606T>C, NC_000007.13:g.74140629T>C

Select item 14907172369.

rs1490717236 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:74725285 (GRCh38)
7:74139618 (GRCh37)
Canonical SPDI:: NC_000007.14:74725284:C:G,NC_000007.14:74725284:C:T
Gene:: GTF2I (Varview), GTF2I-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.74725285C>G, NC_000007.14:g.74725285C>T, NW_003871064.1:g.2254521C>G, NW_003871064.1:g.2254521C>T, NG_008179.2:g.72596C>G, NG_008179.2:g.72596C>T, NC_000007.13:g.74139618C>G, NC_000007.13:g.74139618C>T

Select item 149071559710.

rs1490715597 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:74693681 (GRCh38)
7:74108013 (GRCh37)
Canonical SPDI:: NC_000007.14:74693680:C:T
Gene:: GTF2I (Varview), GTF2I-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000142/4 (TOMMO)
T=0.000342/1 (KOREAN)
T=0.000546/1 (Korea1K)
HGVS:: NC_000007.14:g.74693681C>T, NW_003871064.1:g.2222917C>T, NG_008179.2:g.40992C>T, NC_000007.13:g.74108013C>T

Select item 149068948211.

rs1490689482 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:74707722 (GRCh38)
7:74122053 (GRCh37)
Canonical SPDI:: NC_000007.14:74707721:T:C
Gene:: GTF2I (Varview), GTF2I-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.74707722T>C, NW_003871064.1:g.2236958T>C, NG_008179.2:g.55033T>C, NC_000007.13:g.74122053T>C

Select item 149063046912.

rs1490630469 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:74727503 (GRCh38)
7:74141841 (GRCh37)
Canonical SPDI:: NC_000007.14:74727502:C:G,NC_000007.14:74727502:C:T
Gene:: GTF2I (Varview), GTF2I-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.74727503C>G, NC_000007.14:g.74727503C>T, NW_003871064.1:g.2256739C>G, NW_003871064.1:g.2256739C>T, NG_008179.2:g.74814C>G, NG_008179.2:g.74814C>T, NC_000007.13:g.74141841C>G, NC_000007.13:g.74141841C>T, NR_110044.1:n.234G>C, NR_110044.1:n.234G>A

Select item 149058161413.

rs1490581614 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:74709310 (GRCh38)
7:74123641 (GRCh37)
Canonical SPDI:: NC_000007.14:74709309:G:A
Gene:: GTF2I (Varview), GTF2I-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000007.14:g.74709310G>A, NW_003871064.1:g.2238546G>A, NG_008179.2:g.56621G>A, NC_000007.13:g.74123641G>A

Select item 149055334714.

rs1490553347 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGGAGAATGCGTAGG>- [Show Flanks]
Chromosome:: 7:74694024 (GRCh38)
7:74108356 (GRCh37)
Canonical SPDI:: NC_000007.14:74694020:AGGTGGAGAATGCGTAGG:AGG
Gene:: GTF2I (Varview), GTF2I-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AGG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.74694024_74694038del, NW_003871064.1:g.2223260_2223274del, NG_008179.2:g.41335_41349del, NC_000007.13:g.74108356_74108370del

Select item 149051864715.

rs1490518647 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:74695168 (GRCh38)
7:74109500 (GRCh37)
Canonical SPDI:: NC_000007.14:74695167:T:C
Gene:: GTF2I (Varview), GTF2I-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.74695168T>C, NW_003871064.1:g.2224404T>C, NG_008179.2:g.42479T>C, NC_000007.13:g.74109500T>C

Select item 149033414016.

rs1490334140 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:74725810 (GRCh38)
7:74140144 (GRCh37)
Canonical SPDI:: NC_000007.14:74725809:A:G
Gene:: GTF2I (Varview), GTF2I-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.74725810A>G, NW_003871064.1:g.2255046A>G, NG_008179.2:g.73121A>G, NC_000007.13:g.74140144A>G

Select item 149022716817.

rs1490227168 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:74724674 (GRCh38)
7:74139007 (GRCh37)
Canonical SPDI:: NC_000007.14:74724673:A:G
Gene:: GTF2I (Varview), GTF2I-AS1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.74724674A>G, NW_003871064.1:g.2253910A>G, NG_008179.2:g.71985A>G, NC_000007.13:g.74139007A>G

Select item 149022589418.

rs1490225894 has merged into rs1158949751 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:74693278 (GRCh38)
7:74107610 (GRCh37)
Canonical SPDI:: NC_000007.14:74693265:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:74693265:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:74693265:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:74693265:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:74693265:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:74693265:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:74693265:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:74693265:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:74693265:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:74693265:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:74693265:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:74693265:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:74693265:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:74693265:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:74693265:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:74693265:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:74693265:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:74693265:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:74693265:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:74693265:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:74693265:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:74693265:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:74693265:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:74693265:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:74693265:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GTF2I (Varview), GTF2I-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
TTTTTTTTT=0.00346/2 (NorthernSweden)
HGVS:: NC_000007.14:g.74693278_74693293del, NC_000007.14:g.74693279_74693293del, NC_000007.14:g.74693280_74693293del, NC_000007.14:g.74693281_74693293del, NC_000007.14:g.74693282_74693293del, NC_000007.14:g.74693283_74693293del, NC_000007.14:g.74693284_74693293del, NC_000007.14:g.74693285_74693293del, NC_000007.14:g.74693287_74693293del, NC_000007.14:g.74693288_74693293del, NC_000007.14:g.74693289_74693293del, NC_000007.14:g.74693290_74693293del, NC_000007.14:g.74693291_74693293del, NC_000007.14:g.74693292_74693293del, NC_000007.14:g.74693293del, NC_000007.14:g.74693293dup, NC_000007.14:g.74693292_74693293dup, NC_000007.14:g.74693291_74693293dup, NC_000007.14:g.74693290_74693293dup, NC_000007.14:g.74693289_74693293dup, NC_000007.14:g.74693288_74693293dup, NC_000007.14:g.74693287_74693293dup, NC_000007.14:g.74693285_74693293dup, NC_000007.14:g.74693284_74693293dup, NC_000007.14:g.74693293_74693294insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NW_003871064.1:g.2222514_2222529del, NW_003871064.1:g.2222515_2222529del, NW_003871064.1:g.2222516_2222529del, NW_003871064.1:g.2222517_2222529del, NW_003871064.1:g.2222518_2222529del, NW_003871064.1:g.2222519_2222529del, NW_003871064.1:g.2222520_2222529del, NW_003871064.1:g.2222521_2222529del, NW_003871064.1:g.2222523_2222529del, NW_003871064.1:g.2222524_2222529del, NW_003871064.1:g.2222525_2222529del, NW_003871064.1:g.2222526_2222529del, NW_003871064.1:g.2222527_2222529del, NW_003871064.1:g.2222528_2222529del, NW_003871064.1:g.2222529del, NW_003871064.1:g.2222529dup, NW_003871064.1:g.2222528_2222529dup, NW_003871064.1:g.2222527_2222529dup, NW_003871064.1:g.2222526_2222529dup, NW_003871064.1:g.2222525_2222529dup, NW_003871064.1:g.2222524_2222529dup, NW_003871064.1:g.2222523_2222529dup, NW_003871064.1:g.2222521_2222529dup, NW_003871064.1:g.2222520_2222529dup, NW_003871064.1:g.2222529_2222530insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_008179.2:g.40589_40604del, NG_008179.2:g.40590_40604del, NG_008179.2:g.40591_40604del, NG_008179.2:g.40592_40604del, NG_008179.2:g.40593_40604del, NG_008179.2:g.40594_40604del, NG_008179.2:g.40595_40604del, NG_008179.2:g.40596_40604del, NG_008179.2:g.40598_40604del, NG_008179.2:g.40599_40604del, NG_008179.2:g.40600_40604del, NG_008179.2:g.40601_40604del, NG_008179.2:g.40602_40604del, NG_008179.2:g.40603_40604del, NG_008179.2:g.40604del, NG_008179.2:g.40604dup, NG_008179.2:g.40603_40604dup, NG_008179.2:g.40602_40604dup, NG_008179.2:g.40601_40604dup, NG_008179.2:g.40600_40604dup, NG_008179.2:g.40599_40604dup, NG_008179.2:g.40598_40604dup, NG_008179.2:g.40596_40604dup, NG_008179.2:g.40595_40604dup, NG_008179.2:g.40604_40605insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.74107610_74107625del, NC_000007.13:g.74107611_74107625del, NC_000007.13:g.74107612_74107625del, NC_000007.13:g.74107613_74107625del, NC_000007.13:g.74107614_74107625del, NC_000007.13:g.74107615_74107625del, NC_000007.13:g.74107616_74107625del, NC_000007.13:g.74107617_74107625del, NC_000007.13:g.74107619_74107625del, NC_000007.13:g.74107620_74107625del, NC_000007.13:g.74107621_74107625del, NC_000007.13:g.74107622_74107625del, NC_000007.13:g.74107623_74107625del, NC_000007.13:g.74107624_74107625del, NC_000007.13:g.74107625del, NC_000007.13:g.74107625dup, NC_000007.13:g.74107624_74107625dup, NC_000007.13:g.74107623_74107625dup, NC_000007.13:g.74107622_74107625dup, NC_000007.13:g.74107621_74107625dup, NC_000007.13:g.74107620_74107625dup, NC_000007.13:g.74107619_74107625dup, NC_000007.13:g.74107617_74107625dup, NC_000007.13:g.74107616_74107625dup, NC_000007.13:g.74107625_74107626insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149015932619.

rs1490159326 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:74693344 (GRCh38)
7:74107676 (GRCh37)
Canonical SPDI:: NC_000007.14:74693343:C:T
Gene:: GTF2I (Varview), GTF2I-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00004/5 (GnomAD)
HGVS:: NC_000007.14:g.74693344C>T, NW_003871064.1:g.2222580C>T, NG_008179.2:g.40655C>T, NC_000007.13:g.74107676C>T

Select item 149011411420.

rs1490114114 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:74692453 (GRCh38)
7:74106785 (GRCh37)
Canonical SPDI:: NC_000007.14:74692452:A:G
Gene:: GTF2I (Varview), GTF2I-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.74692453A>G, NW_003871064.1:g.2221689A>G, NG_008179.2:g.39764A>G, NC_000007.13:g.74106785A>G

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