SNP Links for Gene (Select 3570) - SNP

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Select item 14915816531.

rs1491581653 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:154464166 (GRCh38)
1:154436642 (GRCh37)
Canonical SPDI:: NC_000001.11:154464164:TAT:T
Gene:: IL6R (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.00047/3 (1000Genomes)
-=0.00099/14 (TOMMO)
-=0.00183/137 (GnomAD)
HGVS:: NC_000001.11:g.154464166_154464167del, NC_000001.10:g.154436642_154436643del, NG_012087.1:g.63974_63975del

Select item 14915277552.

rs1491527755 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:154457322 (GRCh38)
1:154429798 (GRCh37)
Canonical SPDI:: NC_000001.11:154457321:CA:
Gene:: IL6R (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.0236/280 (ALFA)
-=0.00532/85 (TOMMO)
HGVS:: NC_000001.11:g.154457322_154457323del, NC_000001.10:g.154429798_154429799del, NG_012087.1:g.57130_57131del

Select item 14914952443.

rs1491495244 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CACACACACACACATA,CACACACACACATA,CACACACACATA,CACACATA,CACATA,CATA [Show Flanks]
Chromosome:: 1:154426108 (GRCh38)
1:154398585 (GRCh37)
Canonical SPDI:: NC_000001.11:154426108:A:ACACACACACACACATA,NC_000001.11:154426108:A:ACACACACACACATA,NC_000001.11:154426108:A:ACACACACACATA,NC_000001.11:154426108:A:ACACACATA,NC_000001.11:154426108:A:ACACATA,NC_000001.11:154426108:A:ACATA
Gene:: IL6R (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACATA=0./0 (ALFA)
HGVS:: NC_000001.11:g.154426109AC[7]ATA[1], NC_000001.11:g.154426109AC[6]ATA[1], NC_000001.11:g.154426109AC[5]ATA[1], NC_000001.11:g.154426109AC[3]ATA[1], NC_000001.11:g.154426109AC[2]ATA[1], NC_000001.11:g.154426109_154426110insCATA, NC_000001.10:g.154398585AC[7]ATA[1], NC_000001.10:g.154398585AC[6]ATA[1], NC_000001.10:g.154398585AC[5]ATA[1], NC_000001.10:g.154398585AC[3]ATA[1], NC_000001.10:g.154398585AC[2]ATA[1], NC_000001.10:g.154398585_154398586insCATA, NG_012087.1:g.25917AC[7]ATA[1], NG_012087.1:g.25917AC[6]ATA[1], NG_012087.1:g.25917AC[5]ATA[1], NG_012087.1:g.25917AC[3]ATA[1], NG_012087.1:g.25917AC[2]ATA[1], NG_012087.1:g.25917_25918insCATA

Select item 14914807644.

rs1491480764 has merged into rs146568478 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT,TTT,TTTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 1:154438211 (GRCh38)
1:154410687 (GRCh37)
Canonical SPDI:: NC_000001.11:154438210:TTTTTTTTTT:TTTTTTTTT,NC_000001.11:154438210:TTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:154438210:TTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:154438210:TTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:154438210:TTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: IL6R (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0.00007/1 (ALFA)
-=0.11026/202 (Korea1K)
-=0.1246/624 (1000Genomes)
-=0.1549/597 (ALSPAC)
-=0.155/93 (NorthernSweden)
-=0.15684/702 (Estonian)
-=0.161/597 (TWINSUK)
-=0.175/7 (GENOME_DK)
HGVS:: NC_000001.11:g.154438220del, NC_000001.11:g.154438220dup, NC_000001.11:g.154438219_154438220dup, NC_000001.11:g.154438214_154438220dup, NC_000001.11:g.154438211_154438220dup, NC_000001.10:g.154410696del, NC_000001.10:g.154410696dup, NC_000001.10:g.154410695_154410696dup, NC_000001.10:g.154410690_154410696dup, NC_000001.10:g.154410687_154410696dup, NG_012087.1:g.38028del, NG_012087.1:g.38028dup, NG_012087.1:g.38027_38028dup, NG_012087.1:g.38022_38028dup, NG_012087.1:g.38019_38028dup

Select item 14913857195.

rs1491385719 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 1:154448876 (GRCh38)
1:154421353 (GRCh37)
Canonical SPDI:: NC_000001.11:154448876:T:TCT
Gene:: IL6R (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCT=0.00312/37 (ALFA)
TC=0.0145/25 (Korea1K)
TC=0.0223/288 (TOMMO)
TC=0.03287/1313 (GnomAD)
HGVS:: NC_000001.11:g.154448877_154448878insCT, NC_000001.10:g.154421353_154421354insCT, NG_012087.1:g.48685_48686insCT

Select item 14912353196.

rs1491235319 has merged into rs1307922193 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:154457981 (GRCh38)
1:154430457 (GRCh37)
Canonical SPDI:: NC_000001.11:154457967:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:154457967:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:154457967:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:154457967:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:154457967:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:154457967:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:154457967:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:154457967:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:154457967:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:154457967:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:154457967:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:154457967:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:154457967:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: IL6R (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.12934/67 (NorthernSweden)
HGVS:: NC_000001.11:g.154457981_154457984del, NC_000001.11:g.154457982_154457984del, NC_000001.11:g.154457983_154457984del, NC_000001.11:g.154457984del, NC_000001.11:g.154457984dup, NC_000001.11:g.154457983_154457984dup, NC_000001.11:g.154457982_154457984dup, NC_000001.11:g.154457981_154457984dup, NC_000001.11:g.154457979_154457984dup, NC_000001.11:g.154457974_154457984dup, NC_000001.11:g.154457973_154457984dup, NC_000001.11:g.154457970_154457984dup, NC_000001.11:g.154457984_154457985insTTTTTTTTTTTTTTTTTT, NC_000001.10:g.154430457_154430460del, NC_000001.10:g.154430458_154430460del, NC_000001.10:g.154430459_154430460del, NC_000001.10:g.154430460del, NC_000001.10:g.154430460dup, NC_000001.10:g.154430459_154430460dup, NC_000001.10:g.154430458_154430460dup, NC_000001.10:g.154430457_154430460dup, NC_000001.10:g.154430455_154430460dup, NC_000001.10:g.154430450_154430460dup, NC_000001.10:g.154430449_154430460dup, NC_000001.10:g.154430446_154430460dup, NC_000001.10:g.154430460_154430461insTTTTTTTTTTTTTTTTTT, NG_012087.1:g.57789_57792del, NG_012087.1:g.57790_57792del, NG_012087.1:g.57791_57792del, NG_012087.1:g.57792del, NG_012087.1:g.57792dup, NG_012087.1:g.57791_57792dup, NG_012087.1:g.57790_57792dup, NG_012087.1:g.57789_57792dup, NG_012087.1:g.57787_57792dup, NG_012087.1:g.57782_57792dup, NG_012087.1:g.57781_57792dup, NG_012087.1:g.57778_57792dup, NG_012087.1:g.57792_57793insTTTTTTTTTTTTTTTTTT

Select item 14911985877.

rs1491198587 has merged into rs60033332 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAA>-,AAAA,AAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:154457327 (GRCh38)
1:154429803 (GRCh37)
Canonical SPDI:: NC_000001.11:154457322:AAAAAAAAAAAAAAAAAAAAAA:AAAA,NC_000001.11:154457322:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000001.11:154457322:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:154457322:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:154457322:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:154457322:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:154457322:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:154457322:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:154457322:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:154457322:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:154457322:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:154457322:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:154457322:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:154457322:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:154457322:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:154457322:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:154457322:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:154457322:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:154457322:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:154457322:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:154457322:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:154457322:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:154457322:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:154457322:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:154457322:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:154457322:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:154457322:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:154457322:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:154457322:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:154457322:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:154457322:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:154457322:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:154457322:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:154457322:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:154457322:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: IL6R (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.154457327_154457344del, NC_000001.11:g.154457331_154457344del, NC_000001.11:g.154457333_154457344del, NC_000001.11:g.154457336_154457344del, NC_000001.11:g.154457337_154457344del, NC_000001.11:g.154457338_154457344del, NC_000001.11:g.154457339_154457344del, NC_000001.11:g.154457340_154457344del, NC_000001.11:g.154457341_154457344del, NC_000001.11:g.154457342_154457344del, NC_000001.11:g.154457343_154457344del, NC_000001.11:g.154457344del, NC_000001.11:g.154457344dup, NC_000001.11:g.154457343_154457344dup, NC_000001.11:g.154457342_154457344dup, NC_000001.11:g.154457341_154457344dup, NC_000001.11:g.154457340_154457344dup, NC_000001.11:g.154457339_154457344dup, NC_000001.11:g.154457338_154457344dup, NC_000001.11:g.154457337_154457344dup, NC_000001.11:g.154457336_154457344dup, NC_000001.11:g.154457335_154457344dup, NC_000001.11:g.154457333_154457344dup, NC_000001.11:g.154457332_154457344dup, NC_000001.11:g.154457331_154457344dup, NC_000001.11:g.154457330_154457344dup, NC_000001.11:g.154457329_154457344dup, NC_000001.11:g.154457328_154457344dup, NC_000001.11:g.154457327_154457344dup, NC_000001.11:g.154457326_154457344dup, NC_000001.11:g.154457325_154457344dup, NC_000001.11:g.154457324_154457344dup, NC_000001.11:g.154457344_154457345insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.154457344_154457345insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.154457344_154457345insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.154429803_154429820del, NC_000001.10:g.154429807_154429820del, NC_000001.10:g.154429809_154429820del, NC_000001.10:g.154429812_154429820del, NC_000001.10:g.154429813_154429820del, NC_000001.10:g.154429814_154429820del, NC_000001.10:g.154429815_154429820del, NC_000001.10:g.154429816_154429820del, NC_000001.10:g.154429817_154429820del, NC_000001.10:g.154429818_154429820del, NC_000001.10:g.154429819_154429820del, NC_000001.10:g.154429820del, NC_000001.10:g.154429820dup, NC_000001.10:g.154429819_154429820dup, NC_000001.10:g.154429818_154429820dup, NC_000001.10:g.154429817_154429820dup, NC_000001.10:g.154429816_154429820dup, NC_000001.10:g.154429815_154429820dup, NC_000001.10:g.154429814_154429820dup, NC_000001.10:g.154429813_154429820dup, NC_000001.10:g.154429812_154429820dup, NC_000001.10:g.154429811_154429820dup, NC_000001.10:g.154429809_154429820dup, NC_000001.10:g.154429808_154429820dup, NC_000001.10:g.154429807_154429820dup, NC_000001.10:g.154429806_154429820dup, NC_000001.10:g.154429805_154429820dup, NC_000001.10:g.154429804_154429820dup, NC_000001.10:g.154429803_154429820dup, NC_000001.10:g.154429802_154429820dup, NC_000001.10:g.154429801_154429820dup, NC_000001.10:g.154429800_154429820dup, NC_000001.10:g.154429820_154429821insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.154429820_154429821insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.154429820_154429821insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012087.1:g.57135_57152del, NG_012087.1:g.57139_57152del, NG_012087.1:g.57141_57152del, NG_012087.1:g.57144_57152del, NG_012087.1:g.57145_57152del, NG_012087.1:g.57146_57152del, NG_012087.1:g.57147_57152del, NG_012087.1:g.57148_57152del, NG_012087.1:g.57149_57152del, NG_012087.1:g.57150_57152del, NG_012087.1:g.57151_57152del, NG_012087.1:g.57152del, NG_012087.1:g.57152dup, NG_012087.1:g.57151_57152dup, NG_012087.1:g.57150_57152dup, NG_012087.1:g.57149_57152dup, NG_012087.1:g.57148_57152dup, NG_012087.1:g.57147_57152dup, NG_012087.1:g.57146_57152dup, NG_012087.1:g.57145_57152dup, NG_012087.1:g.57144_57152dup, NG_012087.1:g.57143_57152dup, NG_012087.1:g.57141_57152dup, NG_012087.1:g.57140_57152dup, NG_012087.1:g.57139_57152dup, NG_012087.1:g.57138_57152dup, NG_012087.1:g.57137_57152dup, NG_012087.1:g.57136_57152dup, NG_012087.1:g.57135_57152dup, NG_012087.1:g.57134_57152dup, NG_012087.1:g.57133_57152dup, NG_012087.1:g.57132_57152dup, NG_012087.1:g.57152_57153insAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012087.1:g.57152_57153insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_012087.1:g.57152_57153insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14911139458.

rs1491113945 has merged into rs757221328 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:154448885 (GRCh38)
1:154421361 (GRCh37)
Canonical SPDI:: NC_000001.11:154448875:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:154448875:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:154448875:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:154448875:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:154448875:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:154448875:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:154448875:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:154448875:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:154448875:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:154448875:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:154448875:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:154448875:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:154448875:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:154448875:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:154448875:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:154448875:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:154448875:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:154448875:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:154448875:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:154448875:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:154448875:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:154448875:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:154448875:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:154448875:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:154448875:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: IL6R (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.154448885_154448904del, NC_000001.11:g.154448889_154448904del, NC_000001.11:g.154448890_154448904del, NC_000001.11:g.154448891_154448904del, NC_000001.11:g.154448892_154448904del, NC_000001.11:g.154448893_154448904del, NC_000001.11:g.154448894_154448904del, NC_000001.11:g.154448895_154448904del, NC_000001.11:g.154448896_154448904del, NC_000001.11:g.154448897_154448904del, NC_000001.11:g.154448898_154448904del, NC_000001.11:g.154448899_154448904del, NC_000001.11:g.154448900_154448904del, NC_000001.11:g.154448901_154448904del, NC_000001.11:g.154448902_154448904del, NC_000001.11:g.154448903_154448904del, NC_000001.11:g.154448904del, NC_000001.11:g.154448904dup, NC_000001.11:g.154448903_154448904dup, NC_000001.11:g.154448902_154448904dup, NC_000001.11:g.154448901_154448904dup, NC_000001.11:g.154448900_154448904dup, NC_000001.11:g.154448899_154448904dup, NC_000001.11:g.154448898_154448904dup, NC_000001.11:g.154448895_154448904dup, NC_000001.10:g.154421361_154421380del, NC_000001.10:g.154421365_154421380del, NC_000001.10:g.154421366_154421380del, NC_000001.10:g.154421367_154421380del, NC_000001.10:g.154421368_154421380del, NC_000001.10:g.154421369_154421380del, NC_000001.10:g.154421370_154421380del, NC_000001.10:g.154421371_154421380del, NC_000001.10:g.154421372_154421380del, NC_000001.10:g.154421373_154421380del, NC_000001.10:g.154421374_154421380del, NC_000001.10:g.154421375_154421380del, NC_000001.10:g.154421376_154421380del, NC_000001.10:g.154421377_154421380del, NC_000001.10:g.154421378_154421380del, NC_000001.10:g.154421379_154421380del, NC_000001.10:g.154421380del, NC_000001.10:g.154421380dup, NC_000001.10:g.154421379_154421380dup, NC_000001.10:g.154421378_154421380dup, NC_000001.10:g.154421377_154421380dup, NC_000001.10:g.154421376_154421380dup, NC_000001.10:g.154421375_154421380dup, NC_000001.10:g.154421374_154421380dup, NC_000001.10:g.154421371_154421380dup, NG_012087.1:g.48693_48712del, NG_012087.1:g.48697_48712del, NG_012087.1:g.48698_48712del, NG_012087.1:g.48699_48712del, NG_012087.1:g.48700_48712del, NG_012087.1:g.48701_48712del, NG_012087.1:g.48702_48712del, NG_012087.1:g.48703_48712del, NG_012087.1:g.48704_48712del, NG_012087.1:g.48705_48712del, NG_012087.1:g.48706_48712del, NG_012087.1:g.48707_48712del, NG_012087.1:g.48708_48712del, NG_012087.1:g.48709_48712del, NG_012087.1:g.48710_48712del, NG_012087.1:g.48711_48712del, NG_012087.1:g.48712del, NG_012087.1:g.48712dup, NG_012087.1:g.48711_48712dup, NG_012087.1:g.48710_48712dup, NG_012087.1:g.48709_48712dup, NG_012087.1:g.48708_48712dup, NG_012087.1:g.48707_48712dup, NG_012087.1:g.48706_48712dup, NG_012087.1:g.48703_48712dup

Select item 14911110879.

rs1491111087 has merged into rs35390021 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:154440666 (GRCh38)
1:154413142 (GRCh37)
Canonical SPDI:: NC_000001.11:154440655:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000001.11:154440655:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:154440655:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:154440655:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:154440655:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:154440655:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:154440655:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:154440655:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:154440655:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:154440655:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:154440655:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:154440655:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:154440655:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:154440655:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:154440655:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:154440655:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: IL6R (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000001.11:g.154440666_154440672del, NC_000001.11:g.154440668_154440672del, NC_000001.11:g.154440669_154440672del, NC_000001.11:g.154440670_154440672del, NC_000001.11:g.154440671_154440672del, NC_000001.11:g.154440672del, NC_000001.11:g.154440672dup, NC_000001.11:g.154440671_154440672dup, NC_000001.11:g.154440670_154440672dup, NC_000001.11:g.154440669_154440672dup, NC_000001.11:g.154440668_154440672dup, NC_000001.11:g.154440667_154440672dup, NC_000001.11:g.154440663_154440672dup, NC_000001.11:g.154440662_154440672dup, NC_000001.11:g.154440656_154440672dup, NC_000001.11:g.154440672_154440673insTTTTTTTTTTTTTTTTTT, NC_000001.10:g.154413142_154413148del, NC_000001.10:g.154413144_154413148del, NC_000001.10:g.154413145_154413148del, NC_000001.10:g.154413146_154413148del, NC_000001.10:g.154413147_154413148del, NC_000001.10:g.154413148del, NC_000001.10:g.154413148dup, NC_000001.10:g.154413147_154413148dup, NC_000001.10:g.154413146_154413148dup, NC_000001.10:g.154413145_154413148dup, NC_000001.10:g.154413144_154413148dup, NC_000001.10:g.154413143_154413148dup, NC_000001.10:g.154413139_154413148dup, NC_000001.10:g.154413138_154413148dup, NC_000001.10:g.154413132_154413148dup, NC_000001.10:g.154413148_154413149insTTTTTTTTTTTTTTTTTT, NG_012087.1:g.40474_40480del, NG_012087.1:g.40476_40480del, NG_012087.1:g.40477_40480del, NG_012087.1:g.40478_40480del, NG_012087.1:g.40479_40480del, NG_012087.1:g.40480del, NG_012087.1:g.40480dup, NG_012087.1:g.40479_40480dup, NG_012087.1:g.40478_40480dup, NG_012087.1:g.40477_40480dup, NG_012087.1:g.40476_40480dup, NG_012087.1:g.40475_40480dup, NG_012087.1:g.40471_40480dup, NG_012087.1:g.40470_40480dup, NG_012087.1:g.40464_40480dup, NG_012087.1:g.40480_40481insTTTTTTTTTTTTTTTTTT

Select item 149106658310.

rs1491066583 has merged into rs35455075 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 1:154445759 (GRCh38)
1:154418235 (GRCh37)
Canonical SPDI:: NC_000001.11:154445749:AAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:154445749:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:154445749:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:154445749:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:154445749:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:154445749:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:154445749:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:154445749:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: IL6R (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
AA=0.425/17 (GENOME_DK)
AA=0.4401/2204 (1000Genomes)
HGVS:: NC_000001.11:g.154445759_154445762del, NC_000001.11:g.154445760_154445762del, NC_000001.11:g.154445761_154445762del, NC_000001.11:g.154445762del, NC_000001.11:g.154445762dup, NC_000001.11:g.154445761_154445762dup, NC_000001.11:g.154445760_154445762dup, NC_000001.11:g.154445759_154445762dup, NC_000001.10:g.154418235_154418238del, NC_000001.10:g.154418236_154418238del, NC_000001.10:g.154418237_154418238del, NC_000001.10:g.154418238del, NC_000001.10:g.154418238dup, NC_000001.10:g.154418237_154418238dup, NC_000001.10:g.154418236_154418238dup, NC_000001.10:g.154418235_154418238dup, NG_012087.1:g.45567_45570del, NG_012087.1:g.45568_45570del, NG_012087.1:g.45569_45570del, NG_012087.1:g.45570del, NG_012087.1:g.45570dup, NG_012087.1:g.45569_45570dup, NG_012087.1:g.45568_45570dup, NG_012087.1:g.45567_45570dup

Select item 149101581911.

rs1491015819 has merged into rs562457712 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:154444220 (GRCh38)
1:154416696 (GRCh37)
Canonical SPDI:: NC_000001.11:154444208:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:154444208:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:154444208:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:154444208:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:154444208:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:154444208:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:154444208:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:154444208:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:154444208:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:154444208:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:154444208:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT
Gene:: IL6R (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.116813/585 (1000Genomes)
TT=0.190669/707 (TWINSUK)
TT=0.21562/831 (ALSPAC)
HGVS:: NC_000001.11:g.154444220_154444225del, NC_000001.11:g.154444221_154444225del, NC_000001.11:g.154444222_154444225del, NC_000001.11:g.154444223_154444225del, NC_000001.11:g.154444224_154444225del, NC_000001.11:g.154444225del, NC_000001.11:g.154444225dup, NC_000001.11:g.154444224_154444225dup, NC_000001.11:g.154444223_154444225dup, NC_000001.11:g.154444222_154444225dup, NC_000001.11:g.154444220_154444225dup, NC_000001.10:g.154416696_154416701del, NC_000001.10:g.154416697_154416701del, NC_000001.10:g.154416698_154416701del, NC_000001.10:g.154416699_154416701del, NC_000001.10:g.154416700_154416701del, NC_000001.10:g.154416701del, NC_000001.10:g.154416701dup, NC_000001.10:g.154416700_154416701dup, NC_000001.10:g.154416699_154416701dup, NC_000001.10:g.154416698_154416701dup, NC_000001.10:g.154416696_154416701dup, NG_012087.1:g.44028_44033del, NG_012087.1:g.44029_44033del, NG_012087.1:g.44030_44033del, NG_012087.1:g.44031_44033del, NG_012087.1:g.44032_44033del, NG_012087.1:g.44033del, NG_012087.1:g.44033dup, NG_012087.1:g.44032_44033dup, NG_012087.1:g.44031_44033dup, NG_012087.1:g.44030_44033dup, NG_012087.1:g.44028_44033dup

Select item 149092614712.

rs1490926147 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:154414202 (GRCh38)
1:154386678 (GRCh37)
Canonical SPDI:: NC_000001.11:154414201:A:G,NC_000001.11:154414201:A:T
Gene:: IL6R (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.154414202A>G, NC_000001.11:g.154414202A>T, NC_000001.10:g.154386678A>G, NC_000001.10:g.154386678A>T, NG_026992.2:g.1121T>C, NG_026992.2:g.1121T>A, NG_012087.1:g.14010A>G, NG_012087.1:g.14010A>T

Select item 149082625513.

rs1490826255 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:154425954 (GRCh38)
1:154398430 (GRCh37)
Canonical SPDI:: NC_000001.11:154425953:C:T
Gene:: IL6R (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000057/15 (TOPMED)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000001.11:g.154425954C>T, NC_000001.10:g.154398430C>T, NG_012087.1:g.25762C>T

Select item 149079843014.

rs1490798430 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:154410938 (GRCh38)
1:154383414 (GRCh37)
Canonical SPDI:: NC_000001.11:154410937:A:C
Gene:: IL6R (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.154410938A>C, NC_000001.10:g.154383414A>C, NG_012087.1:g.10746A>C

Select item 149076227615.

rs1490762276 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:154409807 (GRCh38)
1:154382283 (GRCh37)
Canonical SPDI:: NC_000001.11:154409806:T:C,NC_000001.11:154409806:T:G
Gene:: IL6R (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.154409807T>C, NC_000001.11:g.154409807T>G, NC_000001.10:g.154382283T>C, NC_000001.10:g.154382283T>G, NG_012087.1:g.9615T>C, NG_012087.1:g.9615T>G

Select item 149068665616.

rs1490686656 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:154447917 (GRCh38)
1:154420393 (GRCh37)
Canonical SPDI:: NC_000001.11:154447916:T:A
Gene:: IL6R (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.154447917T>A, NC_000001.10:g.154420393T>A, NG_012087.1:g.47725T>A

Select item 149056485017.

rs1490564850 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:154463803 (GRCh38)
1:154436279 (GRCh37)
Canonical SPDI:: NC_000001.11:154463802:A:G
Gene:: IL6R (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.154463803A>G, NC_000001.10:g.154436279A>G, NG_012087.1:g.63611A>G

Select item 149052177218.

rs1490521772 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:154448374 (GRCh38)
1:154420850 (GRCh37)
Canonical SPDI:: NC_000001.11:154448373:C:A,NC_000001.11:154448373:C:T
Gene:: IL6R (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.154448374C>A, NC_000001.11:g.154448374C>T, NC_000001.10:g.154420850C>A, NC_000001.10:g.154420850C>T, NG_012087.1:g.48182C>A, NG_012087.1:g.48182C>T

Select item 149043804419.

rs1490438044 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:154432554 (GRCh38)
1:154405030 (GRCh37)
Canonical SPDI:: NC_000001.11:154432553:C:T
Gene:: IL6R (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.154432554C>T, NC_000001.10:g.154405030C>T, NG_012087.1:g.32362C>T

Select item 149043122020.

rs1490431220 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:154418714 (GRCh38)
1:154391190 (GRCh37)
Canonical SPDI:: NC_000001.11:154418713:C:G
Gene:: IL6R (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.154418714C>G, NC_000001.10:g.154391190C>G, NG_012087.1:g.18522C>G

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