SNP Links for Gene (Select 3594) - SNP

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Select item 14915387431.

rs1491538743 has merged into rs1216685125 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:18068029 (GRCh38)
19:18178839 (GRCh37)
Canonical SPDI:: NC_000019.10:18068017:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:18068017:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:18068017:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:18068017:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:18068017:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:18068017:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:18068017:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:18068017:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:18068017:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:18068017:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:18068017:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:18068017:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:18068017:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:18068017:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:18068017:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:18068017:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:18068017:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:18068017:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:18068017:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:18068017:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:18068017:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:18068017:TTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: IL12RB1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.18068029_18068043del, NC_000019.10:g.18068030_18068043del, NC_000019.10:g.18068031_18068043del, NC_000019.10:g.18068033_18068043del, NC_000019.10:g.18068034_18068043del, NC_000019.10:g.18068037_18068043del, NC_000019.10:g.18068038_18068043del, NC_000019.10:g.18068039_18068043del, NC_000019.10:g.18068040_18068043del, NC_000019.10:g.18068041_18068043del, NC_000019.10:g.18068042_18068043del, NC_000019.10:g.18068043del, NC_000019.10:g.18068043dup, NC_000019.10:g.18068042_18068043dup, NC_000019.10:g.18068041_18068043dup, NC_000019.10:g.18068040_18068043dup, NC_000019.10:g.18068039_18068043dup, NC_000019.10:g.18068038_18068043dup, NC_000019.10:g.18068037_18068043dup, NC_000019.10:g.18068035_18068043dup, NC_000019.10:g.18068033_18068043dup, NC_000019.10:g.18068043_18068044insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.18178839_18178853del, NC_000019.9:g.18178840_18178853del, NC_000019.9:g.18178841_18178853del, NC_000019.9:g.18178843_18178853del, NC_000019.9:g.18178844_18178853del, NC_000019.9:g.18178847_18178853del, NC_000019.9:g.18178848_18178853del, NC_000019.9:g.18178849_18178853del, NC_000019.9:g.18178850_18178853del, NC_000019.9:g.18178851_18178853del, NC_000019.9:g.18178852_18178853del, NC_000019.9:g.18178853del, NC_000019.9:g.18178853dup, NC_000019.9:g.18178852_18178853dup, NC_000019.9:g.18178851_18178853dup, NC_000019.9:g.18178850_18178853dup, NC_000019.9:g.18178849_18178853dup, NC_000019.9:g.18178848_18178853dup, NC_000019.9:g.18178847_18178853dup, NC_000019.9:g.18178845_18178853dup, NC_000019.9:g.18178843_18178853dup, NC_000019.9:g.18178853_18178854insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_007366.2:g.35918_35932del, NG_007366.2:g.35919_35932del, NG_007366.2:g.35920_35932del, NG_007366.2:g.35922_35932del, NG_007366.2:g.35923_35932del, NG_007366.2:g.35926_35932del, NG_007366.2:g.35927_35932del, NG_007366.2:g.35928_35932del, NG_007366.2:g.35929_35932del, NG_007366.2:g.35930_35932del, NG_007366.2:g.35931_35932del, NG_007366.2:g.35932del, NG_007366.2:g.35932dup, NG_007366.2:g.35931_35932dup, NG_007366.2:g.35930_35932dup, NG_007366.2:g.35929_35932dup, NG_007366.2:g.35928_35932dup, NG_007366.2:g.35927_35932dup, NG_007366.2:g.35926_35932dup, NG_007366.2:g.35924_35932dup, NG_007366.2:g.35922_35932dup, NG_007366.2:g.35932_35933insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14915252792.

rs1491525279 has merged into rs5827394 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCC>-,C,CC,CCCC [Show Flanks]
Chromosome:: 19:18058639 (GRCh38)
19:18169449 (GRCh37)
Canonical SPDI:: NC_000019.10:18058632:CCCCCCCCC:CCCCCC,NC_000019.10:18058632:CCCCCCCCC:CCCCCCC,NC_000019.10:18058632:CCCCCCCCC:CCCCCCCC,NC_000019.10:18058632:CCCCCCCCC:CCCCCCCCCC
Gene:: IL12RB1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCC=0.000179/2 (ALFA)
-=0.335/201 (NorthernSweden)
-=0.349766/1348 (ALSPAC)
-=0.350593/1300 (TWINSUK)
-=0.399592/1763 (Estonian)
-=0.400559/2006 (1000Genomes)
-=0.407318/107813 (TOPMED)
-=0.488537/895 (Korea1K)
HGVS:: NC_000019.10:g.18058639_18058641del, NC_000019.10:g.18058640_18058641del, NC_000019.10:g.18058641del, NC_000019.10:g.18058641dup, NC_000019.9:g.18169449_18169451del, NC_000019.9:g.18169450_18169451del, NC_000019.9:g.18169451del, NC_000019.9:g.18169451dup, NG_007366.2:g.45315_45317del, NG_007366.2:g.45316_45317del, NG_007366.2:g.45317del, NG_007366.2:g.45317dup

Select item 14914582323.

rs1491458232 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 19:18084685 (GRCh38)
19:18195495 (GRCh37)
Canonical SPDI:: NC_000019.10:18084684:CC:
Gene:: IL12RB1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000671/3 (ALFA)
-=0.000672/11 (TOMMO)
-=0.001638/3 (Korea1K)
-=0.005/3 (NorthernSweden)
-=0.04256/5858 (GnomAD)
HGVS:: NC_000019.10:g.18084685_18084686del, NC_000019.9:g.18195495_18195496del, NG_007366.2:g.19264_19265del

Select item 14914155064.

rs1491415506 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACAT [Show Flanks]
Chromosome:: 19:18084685 (GRCh38)
19:18195496 (GRCh37)
Canonical SPDI:: NC_000019.10:18084685:CAT:CATACAT
Gene:: IL12RB1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CATACAT=0./0 (ALFA)
HGVS:: NC_000019.10:g.18084688_18084689insACAT, NC_000019.9:g.18195498_18195499insACAT, NG_007366.2:g.19264_19265insTATG

Select item 14913910495.

rs1491391049 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:18068018 (GRCh38)
19:18178829 (GRCh37)
Canonical SPDI:: NC_000019.10:18068018::C
Gene:: IL12RB1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.18068018_18068019insC, NC_000019.9:g.18178828_18178829insC, NG_007366.2:g.35931_35932insG

Select item 14913668056.

rs1491366805 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 19:18092670 (GRCh38)
19:18203480 (GRCh37)
Canonical SPDI:: NC_000019.10:18092669:GA:
Gene:: IL12RB1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000019.10:g.18092670_18092671del, NC_000019.9:g.18203480_18203481del, NG_007366.2:g.11279_11280del

Select item 14913046747.

rs1491304674 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 19:18058633 (GRCh38)
19:18169444 (GRCh37)
Canonical SPDI:: NC_000019.10:18058633::G
Gene:: IL12RB1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000546/1 (Korea1K)
G=0.000602/10 (TOMMO)
HGVS:: NC_000019.10:g.18058633_18058634insG, NC_000019.9:g.18169443_18169444insG, NG_007366.2:g.45316_45317insC

Select item 14912885608.

rs1491288560 has merged into rs57327846 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:18067337 (GRCh38)
19:18178147 (GRCh37)
Canonical SPDI:: NC_000019.10:18067326:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:18067326:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000019.10:18067326:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:18067326:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:18067326:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:18067326:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:18067326:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:18067326:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:18067326:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:18067326:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:18067326:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:18067326:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:18067326:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:18067326:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:18067326:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:18067326:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:18067326:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:18067326:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:18067326:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:18067326:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:18067326:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: IL12RB1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
AAAAAAAAA=0.4511/2259 (1000Genomes)
HGVS:: NC_000019.10:g.18067337_18067350del, NC_000019.10:g.18067338_18067350del, NC_000019.10:g.18067339_18067350del, NC_000019.10:g.18067340_18067350del, NC_000019.10:g.18067341_18067350del, NC_000019.10:g.18067342_18067350del, NC_000019.10:g.18067343_18067350del, NC_000019.10:g.18067344_18067350del, NC_000019.10:g.18067345_18067350del, NC_000019.10:g.18067346_18067350del, NC_000019.10:g.18067347_18067350del, NC_000019.10:g.18067348_18067350del, NC_000019.10:g.18067349_18067350del, NC_000019.10:g.18067350del, NC_000019.10:g.18067350dup, NC_000019.10:g.18067349_18067350dup, NC_000019.10:g.18067348_18067350dup, NC_000019.10:g.18067347_18067350dup, NC_000019.10:g.18067346_18067350dup, NC_000019.10:g.18067344_18067350dup, NC_000019.10:g.18067340_18067350dup, NC_000019.9:g.18178147_18178160del, NC_000019.9:g.18178148_18178160del, NC_000019.9:g.18178149_18178160del, NC_000019.9:g.18178150_18178160del, NC_000019.9:g.18178151_18178160del, NC_000019.9:g.18178152_18178160del, NC_000019.9:g.18178153_18178160del, NC_000019.9:g.18178154_18178160del, NC_000019.9:g.18178155_18178160del, NC_000019.9:g.18178156_18178160del, NC_000019.9:g.18178157_18178160del, NC_000019.9:g.18178158_18178160del, NC_000019.9:g.18178159_18178160del, NC_000019.9:g.18178160del, NC_000019.9:g.18178160dup, NC_000019.9:g.18178159_18178160dup, NC_000019.9:g.18178158_18178160dup, NC_000019.9:g.18178157_18178160dup, NC_000019.9:g.18178156_18178160dup, NC_000019.9:g.18178154_18178160dup, NC_000019.9:g.18178150_18178160dup, NG_007366.2:g.36610_36623del, NG_007366.2:g.36611_36623del, NG_007366.2:g.36612_36623del, NG_007366.2:g.36613_36623del, NG_007366.2:g.36614_36623del, NG_007366.2:g.36615_36623del, NG_007366.2:g.36616_36623del, NG_007366.2:g.36617_36623del, NG_007366.2:g.36618_36623del, NG_007366.2:g.36619_36623del, NG_007366.2:g.36620_36623del, NG_007366.2:g.36621_36623del, NG_007366.2:g.36622_36623del, NG_007366.2:g.36623del, NG_007366.2:g.36623dup, NG_007366.2:g.36622_36623dup, NG_007366.2:g.36621_36623dup, NG_007366.2:g.36620_36623dup, NG_007366.2:g.36619_36623dup, NG_007366.2:g.36617_36623dup, NG_007366.2:g.36613_36623dup

Select item 14912557369.

rs1491255736 has merged into rs58773304 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 19:18092683 (GRCh38)
19:18203493 (GRCh37)
Canonical SPDI:: NC_000019.10:18092670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:18092670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:18092670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:18092670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:18092670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:18092670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:18092670:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: IL12RB1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
AA=0.1438/720 (1000Genomes)
HGVS:: NC_000019.10:g.18092683_18092687del, NC_000019.10:g.18092684_18092687del, NC_000019.10:g.18092685_18092687del, NC_000019.10:g.18092686_18092687del, NC_000019.10:g.18092687del, NC_000019.10:g.18092687dup, NC_000019.10:g.18092684_18092687dup, NC_000019.9:g.18203493_18203497del, NC_000019.9:g.18203494_18203497del, NC_000019.9:g.18203495_18203497del, NC_000019.9:g.18203496_18203497del, NC_000019.9:g.18203497del, NC_000019.9:g.18203497dup, NC_000019.9:g.18203494_18203497dup, NG_007366.2:g.11275_11279del, NG_007366.2:g.11276_11279del, NG_007366.2:g.11277_11279del, NG_007366.2:g.11278_11279del, NG_007366.2:g.11279del, NG_007366.2:g.11279dup, NG_007366.2:g.11276_11279dup

Select item 149122741510.

rs1491227415 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACAT,ACATACAT [Show Flanks]
Chromosome:: 19:18084693 (GRCh38)
19:18195504 (GRCh37)
Canonical SPDI:: NC_000019.10:18084693:CAT:CATACAT,NC_000019.10:18084693:CAT:CATACATACAT
Gene:: IL12RB1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CATACATACAT=0./0 (ALFA)
HGVS:: NC_000019.10:g.18084696_18084697insACAT, NC_000019.10:g.18084696_18084697insACATACAT, NC_000019.9:g.18195506_18195507insACAT, NC_000019.9:g.18195506_18195507insACATACAT, NG_007366.2:g.19256_19257insTATG, NG_007366.2:g.19256_19257insTATGTATG

Select item 149122613811.

rs1491226138 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 19:18084696 (GRCh38)
19:18195507 (GRCh37)
Canonical SPDI:: NC_000019.10:18084696::A
Gene:: IL12RB1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: A=0.00085/14 (TOMMO)
A=0.00186/58 (GnomAD)
A=0.00546/10 (Korea1K)
HGVS:: NC_000019.10:g.18084696_18084697insA, NC_000019.9:g.18195506_18195507insA, NG_007366.2:g.19253_19254insT

Select item 149117610912.

rs1491176109 has merged into rs67773732 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTTTT [Show Flanks]
Chromosome:: 19:18061245 (GRCh38)
19:18172055 (GRCh37)
Canonical SPDI:: NC_000019.10:18061233:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:18061233:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:18061233:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:18061233:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:18061233:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:18061233:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:18061233:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:18061233:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT
Gene:: IL12RB1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.18061245_18061247del, NC_000019.10:g.18061246_18061247del, NC_000019.10:g.18061247del, NC_000019.10:g.18061247dup, NC_000019.10:g.18061246_18061247dup, NC_000019.10:g.18061245_18061247dup, NC_000019.10:g.18061244_18061247dup, NC_000019.10:g.18061240_18061247dup, NC_000019.9:g.18172055_18172057del, NC_000019.9:g.18172056_18172057del, NC_000019.9:g.18172057del, NC_000019.9:g.18172057dup, NC_000019.9:g.18172056_18172057dup, NC_000019.9:g.18172055_18172057dup, NC_000019.9:g.18172054_18172057dup, NC_000019.9:g.18172050_18172057dup, NG_007366.2:g.42714_42716del, NG_007366.2:g.42715_42716del, NG_007366.2:g.42716del, NG_007366.2:g.42716dup, NG_007366.2:g.42715_42716dup, NG_007366.2:g.42714_42716dup, NG_007366.2:g.42713_42716dup, NG_007366.2:g.42709_42716dup

Select item 149115055813.

rs1491150558 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GA [Show Flanks]
Chromosome:: 19:18067327 (GRCh38)
19:18178138 (GRCh37)
Canonical SPDI:: NC_000019.10:18067327:A:AGA
Gene:: IL12RB1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AGA=0./0 (ALFA)
HGVS:: NC_000019.10:g.18067328_18067329insGA, NC_000019.9:g.18178138_18178139insGA, NG_007366.2:g.36622_36623insCT

Select item 149107409014.

rs1491074090 has merged into rs147883182 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 19:18096846 (GRCh38)
19:18207656 (GRCh37)
Canonical SPDI:: NC_000019.10:18096832:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:18096832:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:18096832:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:18096832:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:18096832:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:18096832:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:18096832:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:18096832:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: IL12RB1 (Varview), MAST3 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.2454/1229 (1000Genomes)
HGVS:: NC_000019.10:g.18096846_18096849del, NC_000019.10:g.18096847_18096849del, NC_000019.10:g.18096848_18096849del, NC_000019.10:g.18096849del, NC_000019.10:g.18096849dup, NC_000019.10:g.18096848_18096849dup, NC_000019.10:g.18096847_18096849dup, NC_000019.10:g.18096845_18096849dup, NC_000019.9:g.18207656_18207659del, NC_000019.9:g.18207657_18207659del, NC_000019.9:g.18207658_18207659del, NC_000019.9:g.18207659del, NC_000019.9:g.18207659dup, NC_000019.9:g.18207658_18207659dup, NC_000019.9:g.18207657_18207659dup, NC_000019.9:g.18207655_18207659dup, NG_007366.2:g.7114_7117del, NG_007366.2:g.7115_7117del, NG_007366.2:g.7116_7117del, NG_007366.2:g.7117del, NG_007366.2:g.7117dup, NG_007366.2:g.7116_7117dup, NG_007366.2:g.7115_7117dup, NG_007366.2:g.7113_7117dup

Select item 149097566615.

rs1490975666 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:18096381 (GRCh38)
19:18207191 (GRCh37)
Canonical SPDI:: NC_000019.10:18096380:G:C
Gene:: IL12RB1 (Varview), MAST3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000895/4 (ALFA)
C=0.000023/3 (GnomAD)
C=0.000893/4 (Estonian)
HGVS:: NC_000019.10:g.18096381G>C, NC_000019.9:g.18207191G>C, NG_007366.2:g.7569C>G

Select item 149087690416.

rs1490876904 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:18058665 (GRCh38)
19:18169475 (GRCh37)
Canonical SPDI:: NC_000019.10:18058664:G:C
Gene:: IL12RB1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.18058665G>C, NC_000019.9:g.18169475G>C, NG_007366.2:g.45285C>G

Select item 149079679617.

rs1490796796 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:18100567 (GRCh38)
19:18211377 (GRCh37)
Canonical SPDI:: NC_000019.10:18100566:A:G
Gene:: IL12RB1 (Varview), MAST3 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,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_000019.10:g.18100567A>G, NC_000019.9:g.18211377A>G, NG_007366.2:g.3383T>C

Select item 149077817018.

rs1490778170 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:18081156 (GRCh38)
19:18191966 (GRCh37)
Canonical SPDI:: NC_000019.10:18081155:C:T
Gene:: IL12RB1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000142/2 (ALFA)
T=0.000029/4 (GnomAD)
T=0.00003/8 (TOPMED)
HGVS:: NC_000019.10:g.18081156C>T, NC_000019.9:g.18191966C>T, NG_007366.2:g.22794G>A

Select item 149076786219.

rs1490767862 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:18086385 (GRCh38)
19:18197195 (GRCh37)
Canonical SPDI:: NC_000019.10:18086384:C:A,NC_000019.10:18086384:C:T
Gene:: IL12RB1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.18086385C>A, NC_000019.10:g.18086385C>T, NC_000019.9:g.18197195C>A, NC_000019.9:g.18197195C>T, NG_007366.2:g.17565G>T, NG_007366.2:g.17565G>A

Select item 149065915720.

rs1490659157 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:18085075 (GRCh38)
19:18195885 (GRCh37)
Canonical SPDI:: NC_000019.10:18085074:T:C
Gene:: IL12RB1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000026/7 (TOPMED)
HGVS:: NC_000019.10:g.18085075T>C, NC_000019.9:g.18195885T>C, NG_007366.2:g.18875A>G

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