SNP Links for Gene (Select 2969) - SNP

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Select item 14915539321.

rs1491553932 has merged into rs1225904374 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:74680091 (GRCh38)
7:74094425 (GRCh37)
Canonical SPDI:: NC_000007.14:74680079:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000007.14:74680079:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:74680079:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:74680079:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:74680079:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:74680079:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:74680079:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:74680079:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:74680079:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:74680079:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:74680079:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:74680079:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:74680079:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:74680079:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:74680079:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:74680079:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:74680079:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:74680079:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:74680079:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:74680079:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:74680079:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:74680079:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:74680079:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:74680079:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GTF2I (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000007.14:g.74680091_74680100del, NC_000007.14:g.74680092_74680100del, NC_000007.14:g.74680093_74680100del, NC_000007.14:g.74680094_74680100del, NC_000007.14:g.74680095_74680100del, NC_000007.14:g.74680096_74680100del, NC_000007.14:g.74680097_74680100del, NC_000007.14:g.74680098_74680100del, NC_000007.14:g.74680099_74680100del, NC_000007.14:g.74680100del, NC_000007.14:g.74680100dup, NC_000007.14:g.74680099_74680100dup, NC_000007.14:g.74680098_74680100dup, NC_000007.14:g.74680097_74680100dup, NC_000007.14:g.74680096_74680100dup, NC_000007.14:g.74680095_74680100dup, NC_000007.14:g.74680093_74680100dup, NC_000007.14:g.74680092_74680100dup, NC_000007.14:g.74680091_74680100dup, NC_000007.14:g.74680089_74680100dup, NC_000007.14:g.74680085_74680100dup, NC_000007.14:g.74680084_74680100dup, NC_000007.14:g.74680100_74680101insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.74680100_74680101insAAAAAAAAAAAAAAAAAAAAAAAAA, NW_003871064.1:g.2209327_2209336del, NW_003871064.1:g.2209328_2209336del, NW_003871064.1:g.2209329_2209336del, NW_003871064.1:g.2209330_2209336del, NW_003871064.1:g.2209331_2209336del, NW_003871064.1:g.2209332_2209336del, NW_003871064.1:g.2209333_2209336del, NW_003871064.1:g.2209334_2209336del, NW_003871064.1:g.2209335_2209336del, NW_003871064.1:g.2209336del, NW_003871064.1:g.2209336dup, NW_003871064.1:g.2209335_2209336dup, NW_003871064.1:g.2209334_2209336dup, NW_003871064.1:g.2209333_2209336dup, NW_003871064.1:g.2209332_2209336dup, NW_003871064.1:g.2209331_2209336dup, NW_003871064.1:g.2209329_2209336dup, NW_003871064.1:g.2209328_2209336dup, NW_003871064.1:g.2209327_2209336dup, NW_003871064.1:g.2209325_2209336dup, NW_003871064.1:g.2209321_2209336dup, NW_003871064.1:g.2209320_2209336dup, NW_003871064.1:g.2209336_2209337insAAAAAAAAAAAAAAAAAAAAAAAA, NW_003871064.1:g.2209336_2209337insAAAAAAAAAAAAAAAAAAAAAAAAA, NG_008179.2:g.27402_27411del, NG_008179.2:g.27403_27411del, NG_008179.2:g.27404_27411del, NG_008179.2:g.27405_27411del, NG_008179.2:g.27406_27411del, NG_008179.2:g.27407_27411del, NG_008179.2:g.27408_27411del, NG_008179.2:g.27409_27411del, NG_008179.2:g.27410_27411del, NG_008179.2:g.27411del, NG_008179.2:g.27411dup, NG_008179.2:g.27410_27411dup, NG_008179.2:g.27409_27411dup, NG_008179.2:g.27408_27411dup, NG_008179.2:g.27407_27411dup, NG_008179.2:g.27406_27411dup, NG_008179.2:g.27404_27411dup, NG_008179.2:g.27403_27411dup, NG_008179.2:g.27402_27411dup, NG_008179.2:g.27400_27411dup, NG_008179.2:g.27396_27411dup, NG_008179.2:g.27395_27411dup, NG_008179.2:g.27411_27412insAAAAAAAAAAAAAAAAAAAAAAAA, NG_008179.2:g.27411_27412insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.74094428_74094437del, NC_000007.13:g.74094429_74094437del, NC_000007.13:g.74094430_74094437del, NC_000007.13:g.74094431_74094437del, NC_000007.13:g.74094432_74094437del, NC_000007.13:g.74094433_74094437del, NC_000007.13:g.74094434_74094437del, NC_000007.13:g.74094435_74094437del, NC_000007.13:g.74094436_74094437del, NC_000007.13:g.74094437del, NC_000007.13:g.74094437dup, NC_000007.13:g.74094436_74094437dup, NC_000007.13:g.74094435_74094437dup, NC_000007.13:g.74094434_74094437dup, NC_000007.13:g.74094433_74094437dup, NC_000007.13:g.74094432_74094437dup, NC_000007.13:g.74094430_74094437dup, NC_000007.13:g.74094429_74094437dup, NC_000007.13:g.74094428_74094437dup, NC_000007.13:g.74094426_74094437dup, NC_000007.13:g.74094422_74094437dup, NC_000007.13:g.74094421_74094437dup, NC_000007.13:g.74094414_74094437dup, NC_000007.13:g.74094437_74094438insAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14914554252.

rs1491455425 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:74680079 (GRCh38)
7:74094413 (GRCh37)
Canonical SPDI:: NC_000007.14:74680078:CA:
Gene:: GTF2I (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000007.14:g.74680079_74680080del, NW_003871064.1:g.2209315_2209316del, NG_008179.2:g.27390_27391del, NC_000007.13:g.74094413_74094414del

Select item 14914049303.

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 14913050954.

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 14910765905.

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 14910517606.

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 14910085457.

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 14910034238.

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 14909746479.

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 149092101310.

rs1490921013 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:74686358 (GRCh38)
7:74100692 (GRCh37)
Canonical SPDI:: NC_000007.14:74686357:A:T
Gene:: GTF2I (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.74686358A>T, NW_003871064.1:g.2215594A>T, NG_008179.2:g.33669A>T, NC_000007.13:g.74100692A>T

Select item 149089940511.

rs1490899405 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 7:74748921 (GRCh38)
7:74163259 (GRCh37)
Canonical SPDI:: NC_000007.14:74748921::G
Gene:: GTF2I (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.74748921_74748922insG, NW_003871064.1:g.2278157_2278158insG, NG_008179.2:g.96232_96233insG, NG_042249.1:g.15085_15086insG, NC_000007.13:g.74163258_74163259insG

Select item 149088406512.

rs1490884065 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:74687414 (GRCh38)
7:74101748 (GRCh37)
Canonical SPDI:: NC_000007.14:74687413:G:T
Gene:: GTF2I (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.74687414G>T, NW_003871064.1:g.2216650G>T, NG_008179.2:g.34725G>T, NC_000007.13:g.74101748G>T

Select item 149086615313.

rs1490866153 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCTT>- [Show Flanks]
Chromosome:: 7:74672165 (GRCh38)
7:74086489 (GRCh37)
Canonical SPDI:: NC_000007.14:74672162:TTTCTT:TT
Gene:: GTF2I (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0.000071/1 (ALFA)
-=0.000057/8 (GnomAD)
-=0.000072/19 (TOPMED)
HGVS:: NC_000007.14:g.74672165_74672168del, NW_003871064.1:g.2201401_2201404del, NG_008179.2:g.19476_19479del, NC_000007.13:g.74086489_74086492del

Select item 149082511714.

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 149078833415.

rs1490788334 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:74658799 (GRCh38)
7:74073125 (GRCh37)
Canonical SPDI:: NC_000007.14:74658798:T:C
Gene:: GTF2I (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.74658799T>C, NW_003871064.1:g.2188035T>C, NG_008179.2:g.6110T>C, NC_000007.13:g.74073125T>C

Select item 149071723616.

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 149071559717.

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 149068948218.

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 149067281519.

rs1490672815 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:74659944 (GRCh38)
7:74074274 (GRCh37)
Canonical SPDI:: NC_000007.14:74659943:T:C
Gene:: GTF2I (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.74659944T>C, NW_003871064.1:g.2189180T>C, NG_008179.2:g.7255T>C, NC_000007.13:g.74074274T>C

Select item 149063046920.

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

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