SNP Links for Gene (Select 5988) - SNP

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Select item 14915821141.

rs1491582114 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 22:29433291 (GRCh38)
22:29829281 (GRCh37)
Canonical SPDI:: NC_000022.11:29433291::C
Gene:: RFPL1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.29433291_29433292insC, NC_000022.10:g.29829280_29829281insC, NG_022877.1:g.51_52insC

Select item 14915708072.

rs1491570807 [Homo sapiens]

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

Select item 14915618033.

rs1491561803 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 22:29410428 (GRCh38)
22:29806417 (GRCh37)
Canonical SPDI:: NC_000022.11:29410427:TT:
Gene:: RFPL1 (Varview), LOC102723305 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00004/2 (GnomAD)
HGVS:: NC_000022.11:g.29410428_29410429del, NC_000022.10:g.29806417_29806418del

Select item 14915465044.

rs1491546504 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 22:29410483 (GRCh38)
22:29806472 (GRCh37)
Canonical SPDI:: NC_000022.11:29410482:TT:
Gene:: RFPL1 (Varview), LOC102723305 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00011/10 (GnomAD)
HGVS:: NC_000022.11:g.29410483_29410484del, NC_000022.10:g.29806472_29806473del

Select item 14914788595.

rs1491478859 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 22:29419832 (GRCh38)
22:29815821 (GRCh37)
Canonical SPDI:: NC_000022.11:29419830:AGA:A
Gene:: RFPL1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.29419832_29419833del, NC_000022.10:g.29815821_29815822del

Select item 14914660586.

rs1491466058 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 22:29410636 (GRCh38)
22:29806625 (GRCh37)
Canonical SPDI:: NC_000022.11:29410635:TT:
Gene:: RFPL1 (Varview), LOC102723305 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000022.11:g.29410636_29410637del, NC_000022.10:g.29806625_29806626del

Select item 14914586347.

rs1491458634 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA,C,CTATA [Show Flanks]
Chromosome:: 22:29410483 (GRCh38)
22:29806473 (GRCh37)
Canonical SPDI:: NC_000022.11:29410483::A,NC_000022.11:29410483::ATA,NC_000022.11:29410483::C,NC_000022.11:29410483::CTATA
Gene:: RFPL1 (Varview), LOC102723305 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
HGVS:: NC_000022.11:g.29410483_29410484insA, NC_000022.11:g.29410483_29410484insATA, NC_000022.11:g.29410483_29410484insC, NC_000022.11:g.29410483_29410484insCTATA, NC_000022.10:g.29806472_29806473insA, NC_000022.10:g.29806472_29806473insATA, NC_000022.10:g.29806472_29806473insC, NC_000022.10:g.29806472_29806473insCTATA

Select item 14914461498.

rs1491446149 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 22:29410271 (GRCh38)
22:29806261 (GRCh37)
Canonical SPDI:: NC_000022.11:29410271:A:ACA
Gene:: RFPL1 (Varview), LOC102723305 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACA=0./0 (ALFA)
AC=0.000435/51 (GnomAD)
HGVS:: NC_000022.11:g.29410272_29410273insCA, NC_000022.10:g.29806261_29806262insCA

Select item 14914454379.

rs1491445437 has merged into rs59555537 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 22:29424667 (GRCh38)
22:29820656 (GRCh37)
Canonical SPDI:: NC_000022.11:29424656:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000022.11:29424656:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:29424656:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:29424656:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:29424656:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:29424656:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:29424656:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:29424656:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:29424656:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:29424656:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:29424656:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:29424656:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:29424656:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:29424656:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:29424656:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:29424656:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RFPL1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.1689/651 (ALSPAC)
AA=0.4301/2154 (1000Genomes)
HGVS:: NC_000022.11:g.29424667_29424679del, NC_000022.11:g.29424670_29424679del, NC_000022.11:g.29424672_29424679del, NC_000022.11:g.29424673_29424679del, NC_000022.11:g.29424674_29424679del, NC_000022.11:g.29424675_29424679del, NC_000022.11:g.29424676_29424679del, NC_000022.11:g.29424677_29424679del, NC_000022.11:g.29424678_29424679del, NC_000022.11:g.29424679del, NC_000022.11:g.29424679dup, NC_000022.11:g.29424678_29424679dup, NC_000022.11:g.29424677_29424679dup, NC_000022.11:g.29424675_29424679dup, NC_000022.11:g.29424674_29424679dup, NC_000022.11:g.29424671_29424679dup, NC_000022.10:g.29820656_29820668del, NC_000022.10:g.29820659_29820668del, NC_000022.10:g.29820661_29820668del, NC_000022.10:g.29820662_29820668del, NC_000022.10:g.29820663_29820668del, NC_000022.10:g.29820664_29820668del, NC_000022.10:g.29820665_29820668del, NC_000022.10:g.29820666_29820668del, NC_000022.10:g.29820667_29820668del, NC_000022.10:g.29820668del, NC_000022.10:g.29820668dup, NC_000022.10:g.29820667_29820668dup, NC_000022.10:g.29820666_29820668dup, NC_000022.10:g.29820664_29820668dup, NC_000022.10:g.29820663_29820668dup, NC_000022.10:g.29820660_29820668dup

Select item 149143705110.

rs1491437051 has merged into rs58328777 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA [Show Flanks]
Chromosome:: 22:29433300 (GRCh38)
22:29829289 (GRCh37)
Canonical SPDI:: NC_000022.11:29433290:AAAAAAAAAAAAAA:AAAAAAAAA,NC_000022.11:29433290:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000022.11:29433290:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:29433290:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:29433290:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:29433290:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000022.11:29433290:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: RFPL1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.04544/200 (1000Genomes)
HGVS:: NC_000022.11:g.29433300_29433304del, NC_000022.11:g.29433301_29433304del, NC_000022.11:g.29433302_29433304del, NC_000022.11:g.29433303_29433304del, NC_000022.11:g.29433304del, NC_000022.11:g.29433304dup, NC_000022.11:g.29433303_29433304dup, NC_000022.10:g.29829289_29829293del, NC_000022.10:g.29829290_29829293del, NC_000022.10:g.29829291_29829293del, NC_000022.10:g.29829292_29829293del, NC_000022.10:g.29829293del, NC_000022.10:g.29829293dup, NC_000022.10:g.29829292_29829293dup, NG_022877.1:g.60_64del, NG_022877.1:g.61_64del, NG_022877.1:g.62_64del, NG_022877.1:g.63_64del, NG_022877.1:g.64del, NG_022877.1:g.64dup, NG_022877.1:g.63_64dup

Select item 149143205711.

rs1491432057 has merged into rs557983992 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCC>-,C,CC,CCCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCCCCCCCCCCCC [Show Flanks]
Chromosome:: 22:29424842 (GRCh38)
22:29820831 (GRCh37)
Canonical SPDI:: NC_000022.11:29424833:CCCCCCCCCCC:CCCCCCCC,NC_000022.11:29424833:CCCCCCCCCCC:CCCCCCCCC,NC_000022.11:29424833:CCCCCCCCCCC:CCCCCCCCCC,NC_000022.11:29424833:CCCCCCCCCCC:CCCCCCCCCCCC,NC_000022.11:29424833:CCCCCCCCCCC:CCCCCCCCCCCCC,NC_000022.11:29424833:CCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000022.11:29424833:CCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000022.11:29424833:CCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCC
Gene:: RFPL1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCC=0./0 (ALFA)
HGVS:: NC_000022.11:g.29424842_29424844del, NC_000022.11:g.29424843_29424844del, NC_000022.11:g.29424844del, NC_000022.11:g.29424844dup, NC_000022.11:g.29424843_29424844dup, NC_000022.11:g.29424842_29424844dup, NC_000022.11:g.29424841_29424844dup, NC_000022.11:g.29424844_29424845insCCCCCCCCCCCCCCC, NC_000022.10:g.29820831_29820833del, NC_000022.10:g.29820832_29820833del, NC_000022.10:g.29820833del, NC_000022.10:g.29820833dup, NC_000022.10:g.29820832_29820833dup, NC_000022.10:g.29820831_29820833dup, NC_000022.10:g.29820830_29820833dup, NC_000022.10:g.29820833_29820834insCCCCCCCCCCCCCCC

Select item 149142568812.

rs1491425688 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 22:29419831 (GRCh38)
22:29815821 (GRCh37)
Canonical SPDI:: NC_000022.11:29419831:G:GG
Gene:: RFPL1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.001092/2 (Korea1K)
G=0.001455/24 (TOMMO)
HGVS:: NC_000022.11:g.29419832dup, NC_000022.10:g.29815821dup

Select item 149132541513.

rs1491325415 [Homo sapiens]

Variant type:: INS
Alleles:: ->ATATCTATATATAGATATA,CTATA,CTATCTATATATAGATATA [Show Flanks]
Chromosome:: 22:29410636 (GRCh38)
22:29806626 (GRCh37)
Canonical SPDI:: NC_000022.11:29410636::ATATCTATATATAGATATA,NC_000022.11:29410636::CTATA,NC_000022.11:29410636::CTATCTATATATAGATATA
Gene:: RFPL1 (Varview), LOC102723305 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CTATA=0./0 (ALFA)
HGVS:: NC_000022.11:g.29410636_29410637insATATCTATATATAGATATA, NC_000022.11:g.29410636_29410637insCTATA, NC_000022.11:g.29410636_29410637insCTATCTATATATAGATATA, NC_000022.10:g.29806625_29806626insATATCTATATATAGATATA, NC_000022.10:g.29806625_29806626insCTATA, NC_000022.10:g.29806625_29806626insCTATCTATATATAGATATA

Select item 149132443814.

rs1491324438 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 22:29410316 (GRCh38)
22:29806306 (GRCh37)
Canonical SPDI:: NC_000022.11:29410316:T:TCT
Gene:: RFPL1 (Varview), LOC102723305 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TCT=0./0 (ALFA)
HGVS:: NC_000022.11:g.29410317_29410318insCT, NC_000022.10:g.29806306_29806307insCT

Select item 149132326315.

rs1491323263 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 22:29410393 (GRCh38)
22:29806382 (GRCh37)
Canonical SPDI:: NC_000022.11:29410392:TT:
Gene:: RFPL1 (Varview), LOC102723305 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00003/2 (GnomAD)
HGVS:: NC_000022.11:g.29410393_29410394del, NC_000022.10:g.29806382_29806383del

Select item 149131473316.

rs1491314733 [Homo sapiens]

Variant type:: INS
Alleles:: ->CTACAA,CTATATA,CTATATATATAGATATATA,CTATATATATAGATATATATG,GTAGATATATATATCTATATATAGATATATATA [Show Flanks]
Chromosome:: 22:29410393 (GRCh38)
22:29806383 (GRCh37)
Canonical SPDI:: NC_000022.11:29410393::CTACAA,NC_000022.11:29410393::CTATATA,NC_000022.11:29410393::CTATATATATAGATATATA,NC_000022.11:29410393::CTATATATATAGATATATATG,NC_000022.11:29410393::GTAGATATATATATCTATATATAGATATATATA
Gene:: RFPL1 (Varview), LOC102723305 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CTATATA=0./0 (ALFA)
GTAGATATATATATCTATATATAGATATATATA=0.00004/1 (TOMMO)
HGVS:: NC_000022.11:g.29410393_29410394insCTACAA, NC_000022.11:g.29410393_29410394insCTATATA, NC_000022.11:g.29410393_29410394insCTATATATATAGATATATA, NC_000022.11:g.29410393_29410394insCTATATATATAGATATATATG, NC_000022.11:g.29410393_29410394insGTAGATATATATATCTATATATAGATATATATA, NC_000022.10:g.29806382_29806383insCTACAA, NC_000022.10:g.29806382_29806383insCTATATA, NC_000022.10:g.29806382_29806383insCTATATATATAGATATATA, NC_000022.10:g.29806382_29806383insCTATATATATAGATATATATG, NC_000022.10:g.29806382_29806383insGTAGATATATATATCTATATATAGATATATATA

Select item 149126265917.

rs1491262659 has merged into rs10711888 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 22:29442970 (GRCh38)
22:29838959 (GRCh37)
Canonical SPDI:: NC_000022.11:29442959:AAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000022.11:29442959:AAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000022.11:29442959:AAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000022.11:29442959:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000022.11:29442959:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000022.11:29442959:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000022.11:29442959:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000022.11:29442959:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000022.11:29442959:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000022.11:29442959:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000022.11:29442959:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000022.11:29442959:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:29442959:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:29442959:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:29442959:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000022.11:29442959:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: RFPL1S (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.1269/489 (ALSPAC)
-=0.39/1953 (1000Genomes)
HGVS:: NC_000022.11:g.29442970_29442974del, NC_000022.11:g.29442971_29442974del, NC_000022.11:g.29442972_29442974del, NC_000022.11:g.29442973_29442974del, NC_000022.11:g.29442974del, NC_000022.11:g.29442974dup, NC_000022.11:g.29442973_29442974dup, NC_000022.11:g.29442972_29442974dup, NC_000022.11:g.29442971_29442974dup, NC_000022.11:g.29442970_29442974dup, NC_000022.11:g.29442969_29442974dup, NC_000022.11:g.29442968_29442974dup, NC_000022.11:g.29442967_29442974dup, NC_000022.11:g.29442966_29442974dup, NC_000022.11:g.29442965_29442974dup, NC_000022.11:g.29442964_29442974dup, NC_000022.10:g.29838959_29838963del, NC_000022.10:g.29838960_29838963del, NC_000022.10:g.29838961_29838963del, NC_000022.10:g.29838962_29838963del, NC_000022.10:g.29838963del, NC_000022.10:g.29838963dup, NC_000022.10:g.29838962_29838963dup, NC_000022.10:g.29838961_29838963dup, NC_000022.10:g.29838960_29838963dup, NC_000022.10:g.29838959_29838963dup, NC_000022.10:g.29838958_29838963dup, NC_000022.10:g.29838957_29838963dup, NC_000022.10:g.29838956_29838963dup, NC_000022.10:g.29838955_29838963dup, NC_000022.10:g.29838954_29838963dup, NC_000022.10:g.29838953_29838963dup

Select item 149125211418.

rs1491252114 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AGATATATATATCTATATATAGATATATATA,ATA,ATATATATCTATATATAGATATATATA,ATCTATATATAGATATATATA,C,CTACAATATATATATCTATATATAGATATATATA,CTATA,CTATATA,CTATATATAGATATATATA,CTATATATAGATATCTATA,GTAGATATATATATCTATATAGATATATATA,GTAGATATATATATCTATATATAGATATATA,GTAGATATATATATCTATATATAGATATATATA,GTAGATATATATATCTATATATAGATATATATATGTAGATATATATATCTATATATAGATATATATA,GTAGATATATATATCTATATATAGATATATATATGTAGATATATATCTATATATAGATATATATA [Show Flanks]
Chromosome:: 22:29410428 (GRCh38)
22:29806418 (GRCh37)
Canonical SPDI:: NC_000022.11:29410428::A,NC_000022.11:29410428::AGATATATATATCTATATATAGATATATATA,NC_000022.11:29410428::ATA,NC_000022.11:29410428::ATATATATCTATATATAGATATATATA,NC_000022.11:29410428::ATCTATATATAGATATATATA,NC_000022.11:29410428::C,NC_000022.11:29410428::CTACAATATATATATCTATATATAGATATATATA,NC_000022.11:29410428::CTATA,NC_000022.11:29410428::CTATATA,NC_000022.11:29410428::CTATATATAGATATATATA,NC_000022.11:29410428::CTATATATAGATATCTATA,NC_000022.11:29410428::GTAGATATATATATCTATATAGATATATATA,NC_000022.11:29410428::GTAGATATATATATCTATATATAGATATATA,NC_000022.11:29410428::GTAGATATATATATCTATATATAGATATATATA,NC_000022.11:29410428::GTAGATATATATATCTATATATAGATATATATATGTAGATATATATATCTATATATAGATATATATA,NC_000022.11:29410428::GTAGATATATATATCTATATATAGATATATATATGTAGATATATATCTATATATAGATATATATA
Gene:: RFPL1 (Varview), LOC102723305 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
GTAGATATATATATCTATATATAGATATATATA=0.00825/11 (Korea1K)
HGVS:: NC_000022.11:g.29410428_29410429insA, NC_000022.11:g.29410428_29410429insAGATATATATATCTATATATAGATATATATA, NC_000022.11:g.29410428_29410429insATA, NC_000022.11:g.29410428_29410429insATATATATCTATATATAGATATATATA, NC_000022.11:g.29410428_29410429insATCTATATATAGATATATATA, NC_000022.11:g.29410428_29410429insC, NC_000022.11:g.29410428_29410429insCTACAATATATATATCTATATATAGATATATATA, NC_000022.11:g.29410428_29410429insCTATA, NC_000022.11:g.29410428_29410429insCTATATA, NC_000022.11:g.29410428_29410429insCTATATATAGATATATATA, NC_000022.11:g.29410428_29410429insCTATATATAGATATCTATA, NC_000022.11:g.29410428_29410429insGTAGATATATATATCTATATAGATATATATA, NC_000022.11:g.29410428_29410429insGTAGATATATATATCTATATATAGATATATA, NC_000022.11:g.29410428_29410429insGTAGATATATATATCTATATATAGATATATATA, NC_000022.11:g.29410428_29410429insGTAGATATATATATCTATATATAGATATATATATGTAGATATATATATCTATATATAGATATATATA, NC_000022.11:g.29410428_29410429insGTAGATATATATATCTATATATAGATATATATATGTAGATATATATCTATATATAGATATATATA, NC_000022.10:g.29806417_29806418insA, NC_000022.10:g.29806417_29806418insAGATATATATATCTATATATAGATATATATA, NC_000022.10:g.29806417_29806418insATA, NC_000022.10:g.29806417_29806418insATATATATCTATATATAGATATATATA, NC_000022.10:g.29806417_29806418insATCTATATATAGATATATATA, NC_000022.10:g.29806417_29806418insC, NC_000022.10:g.29806417_29806418insCTACAATATATATATCTATATATAGATATATATA, NC_000022.10:g.29806417_29806418insCTATA, NC_000022.10:g.29806417_29806418insCTATATA, NC_000022.10:g.29806417_29806418insCTATATATAGATATATATA, NC_000022.10:g.29806417_29806418insCTATATATAGATATCTATA, NC_000022.10:g.29806417_29806418insGTAGATATATATATCTATATAGATATATATA, NC_000022.10:g.29806417_29806418insGTAGATATATATATCTATATATAGATATATA, NC_000022.10:g.29806417_29806418insGTAGATATATATATCTATATATAGATATATATA, NC_000022.10:g.29806417_29806418insGTAGATATATATATCTATATATAGATATATATATGTAGATATATATATCTATATATAGATATATATA, NC_000022.10:g.29806417_29806418insGTAGATATATATATCTATATATAGATATATATATGTAGATATATATCTATATATAGATATATATA

Select item 149122866119.

rs1491228661 [Homo sapiens]

Variant type:: INS
Alleles:: ->ATCTA,GTAG [Show Flanks]
Chromosome:: 22:29410463 (GRCh38)
22:29806453 (GRCh37)
Canonical SPDI:: NC_000022.11:29410463::ATCTA,NC_000022.11:29410463::GTAG
Gene:: RFPL1 (Varview), LOC102723305 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GTAG=0./0 (ALFA)
GTAG=0.00001/1 (GnomAD)
HGVS:: NC_000022.11:g.29410463_29410464insATCTA, NC_000022.11:g.29410463_29410464insGTAG, NC_000022.10:g.29806452_29806453insATCTA, NC_000022.10:g.29806452_29806453insGTAG

Select item 149119604920.

rs1491196049 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 22:29410464 (GRCh38)
22:29806453 (GRCh37)
Canonical SPDI:: NC_000022.11:29410462:TCT:T
Gene:: RFPL1 (Varview), LOC102723305 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.00002/2 (GnomAD)
HGVS:: NC_000022.11:g.29410464_29410465del, NC_000022.10:g.29806453_29806454del

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