SNP Links for Gene (Select 3120) - SNP

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Select item 14912728891.

rs1491272889 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:32757750 (GRCh38)
6:32725527 (GRCh37)
Canonical SPDI:: NC_000006.12:32757749:CA:
Gene:: HLA-DQB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0./0 (ExAC)
HGVS:: NC_000006.12:g.32757750_32757751del, NC_000006.11:g.32725527_32725528del, NT_113891.3:g.4171324_4171325del, NT_113891.2:g.4171430_4171431del, NT_167248.2:g.3952054_3952055del, NT_167248.1:g.3957650_3957651del, NT_167245.2:g.4002509_4002510del, NT_167245.1:g.4008094_4008095del, NT_167249.2:g.4157895_4157896del, NT_167249.1:g.4157193_4157194del, NT_167246.2:g.4177105_4177106del, NT_167246.1:g.4182725_4182726del, NT_167247.2:g.4057128_4057129del, NT_167247.1:g.4062713_4062714del, NT_167244.2:g.4063890_4063891del, NT_167244.1:g.4013806_4013807del

Select item 14906810382.

rs1490681038 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:32761943 (GRCh38)
6:32729720 (GRCh37)
Canonical SPDI:: NC_000006.12:32761942:C:T
Gene:: HLA-DQB2 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000006.12:g.32761943C>T, NC_000006.11:g.32729720C>T, NT_113891.3:g.4175517C>T, NT_113891.2:g.4175623C>T, NT_167248.2:g.3956247C>T, NT_167248.1:g.3961843C>T, NT_167245.2:g.4006702C>T, NT_167245.1:g.4012287C>T, NT_167249.2:g.4162088C>T, NT_167249.1:g.4161386C>T, NT_167246.2:g.4181298C>T, NT_167246.1:g.4186918C>T, NT_167247.2:g.4061321C>T, NT_167247.1:g.4066906C>T, NT_167244.2:g.4068083C>T, NT_167244.1:g.4017999C>T

Select item 14903929833.

rs1490392983 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:32758255 (GRCh38)
6:32726032 (GRCh37)
Canonical SPDI:: NC_000006.12:32758254:T:C
Gene:: HLA-DQB2 (Varview)
Functional Consequence:: 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_000006.12:g.32758255T>C, NC_000006.11:g.32726032T>C, NT_113891.3:g.4171829T>C, NT_113891.2:g.4171935T>C, NT_167248.2:g.3952560T>C, NT_167248.1:g.3958156T>C, NT_167245.2:g.4003015T>C, NT_167245.1:g.4008600T>C, NT_167249.2:g.4158400T>C, NT_167249.1:g.4157698T>C, NT_167246.2:g.4177611T>C, NT_167246.1:g.4183231T>C, NT_167247.2:g.4057634T>C, NT_167247.1:g.4063219T>C, NT_167244.2:g.4064395T>C, NT_167244.1:g.4014311T>C

Select item 14902746874.

rs1490274687 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:32756734 (GRCh38)
6:32724511 (GRCh37)
Canonical SPDI:: NC_000006.12:32756733:C:T
Gene:: HLA-DQB2 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.021076/250 (ALFA)
T=0.003368/418 (GnomAD)
T=0.062149/398 (1000Genomes)
T=0.107828/3047 (TOMMO)
HGVS:: NC_000006.12:g.32756734C>T, NC_000006.11:g.32724511C>T, NT_113891.3:g.4170307C>T, NT_113891.2:g.4170413C>T, NT_167248.2:g.3951035C>T, NT_167248.1:g.3956631C>T, NT_167245.2:g.4001490C>T, NT_167245.1:g.4007075C>T, NT_167249.2:g.4156879C>T, NT_167249.1:g.4156177C>T, NT_167246.2:g.4176086C>T, NT_167246.1:g.4181706C>T, NT_167247.2:g.4056109C>T, NT_167247.1:g.4061694C>T, NT_167244.2:g.4062873C>T, NT_167244.1:g.4012789C>T

Select item 14900108725.

rs1490010872 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:32763121 (GRCh38)
6:32730898 (GRCh37)
Canonical SPDI:: NC_000006.12:32763120:G:A
Gene:: HLA-DQB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
HGVS:: NC_000006.12:g.32763121G>A, NC_000006.11:g.32730898G>A, NT_113891.3:g.4176695G>A, NT_113891.2:g.4176801G>A, NT_167248.2:g.3957425G>A, NT_167248.1:g.3963021G>A, NT_167245.2:g.4007880G>A, NT_167245.1:g.4013465G>A, NT_167249.2:g.4163266G>A, NT_167249.1:g.4162564G>A, NT_167246.2:g.4182476G>A, NT_167246.1:g.4188096G>A, NT_167247.2:g.4062499G>A, NT_167247.1:g.4068084G>A, NT_167244.2:g.4069261G>A, NT_167244.1:g.4019177G>A

Select item 14898551496.

rs1489855149 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:32764971 (GRCh38)
6:32732748 (GRCh37)
Canonical SPDI:: NC_000006.12:32764970:A:C
Gene:: HLA-DQB2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.32764971A>C, NC_000006.11:g.32732748A>C, NT_113891.3:g.4178545A>C, NT_113891.2:g.4178651A>C, NT_167248.2:g.3959275A>C, NT_167248.1:g.3964871A>C, NT_167245.2:g.4009730A>C, NT_167245.1:g.4015315A>C, NT_167249.2:g.4165116A>C, NT_167249.1:g.4164414A>C, NT_167246.2:g.4184326A>C, NT_167246.1:g.4189946A>C, NT_167247.2:g.4064349A>C, NT_167247.1:g.4069934A>C, NT_167244.2:g.4071111A>C, NT_167244.1:g.4021027A>C

Select item 14898119837.

rs1489811983 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 6:32757109 (GRCh38)
6:32724886 (GRCh37)
Canonical SPDI:: NC_000006.12:32757108:T:A,NC_000006.12:32757108:T:C
Gene:: HLA-DQB2 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000006.12:g.32757109T>A, NC_000006.12:g.32757109T>C, NC_000006.11:g.32724886T>A, NC_000006.11:g.32724886T>C, NT_113891.3:g.4170683T>A, NT_113891.3:g.4170683T>C, NT_113891.2:g.4170789T>A, NT_113891.2:g.4170789T>C, NT_167248.2:g.3951412T>A, NT_167248.2:g.3951412T>C, NT_167248.1:g.3957008T>A, NT_167248.1:g.3957008T>C, NT_167245.2:g.4001867T>A, NT_167245.2:g.4001867T>C, NT_167245.1:g.4007452T>A, NT_167245.1:g.4007452T>C, NT_167249.2:g.4157254T>A, NT_167249.2:g.4157254T>C, NT_167249.1:g.4156552T>A, NT_167249.1:g.4156552T>C, NT_167246.2:g.4176463T>A, NT_167246.2:g.4176463T>C, NT_167246.1:g.4182083T>A, NT_167246.1:g.4182083T>C, NT_167247.2:g.4056486T>A, NT_167247.2:g.4056486T>C, NT_167247.1:g.4062071T>A, NT_167247.1:g.4062071T>C, NT_167244.2:g.4063249T>A, NT_167244.2:g.4063249T>C, NT_167244.1:g.4013165T>A, NT_167244.1:g.4013165T>C

Select item 14895489198.

rs1489548919 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 6:32763262 (GRCh38)
6:32731039 (GRCh37)
Canonical SPDI:: NC_000006.12:32763261:G:A,NC_000006.12:32763261:G:T
Gene:: HLA-DQB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.32763262G>A, NC_000006.12:g.32763262G>T, NC_000006.11:g.32731039G>A, NC_000006.11:g.32731039G>T, NT_113891.3:g.4176836G>A, NT_113891.3:g.4176836G>T, NT_113891.2:g.4176942G>A, NT_113891.2:g.4176942G>T, NT_167248.2:g.3957566G>A, NT_167248.2:g.3957566G>T, NT_167248.1:g.3963162G>A, NT_167248.1:g.3963162G>T, NT_167245.2:g.4008021G>A, NT_167245.2:g.4008021G>T, NT_167245.1:g.4013606G>A, NT_167245.1:g.4013606G>T, NT_167249.2:g.4163407G>A, NT_167249.2:g.4163407G>T, NT_167249.1:g.4162705G>A, NT_167249.1:g.4162705G>T, NT_167246.2:g.4182617G>A, NT_167246.2:g.4182617G>T, NT_167246.1:g.4188237G>A, NT_167246.1:g.4188237G>T, NT_167247.2:g.4062640G>A, NT_167247.2:g.4062640G>T, NT_167247.1:g.4068225G>A, NT_167247.1:g.4068225G>T, NT_167244.2:g.4069402G>A, NT_167244.2:g.4069402G>T, NT_167244.1:g.4019318G>A, NT_167244.1:g.4019318G>T

Select item 14891420919.

rs1489142091 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:32762511 (GRCh38)
6:32730288 (GRCh37)
Canonical SPDI:: NC_000006.12:32762510:A:T
Gene:: HLA-DQB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.00202/24 (ALFA)
HGVS:: NC_000006.12:g.32762511A>T, NC_000006.11:g.32730288A>T, NT_113891.3:g.4176085A>T, NT_113891.2:g.4176191A>T, NT_167248.2:g.3956815A>T, NT_167248.1:g.3962411A>T, NT_167245.2:g.4007270A>T, NT_167245.1:g.4012855A>T, NT_167249.2:g.4162656A>T, NT_167249.1:g.4161954A>T, NT_167246.2:g.4181866A>T, NT_167246.1:g.4187486A>T, NT_167247.2:g.4061889A>T, NT_167247.1:g.4067474A>T, NT_167244.2:g.4068651A>T, NT_167244.1:g.4018567A>T

Select item 148911995810.

rs1489119958 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:32756687 (GRCh38)
6:32724464 (GRCh37)
Canonical SPDI:: NC_000006.12:32756686:C:T
Gene:: HLA-DQB2 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.105969/1257 (ALFA)
T=0.019281/2309 (GnomAD)
T=0.092911/595 (1000Genomes)
T=0.146153/4130 (TOMMO)
HGVS:: NC_000006.12:g.32756687C>T, NC_000006.11:g.32724464C>T, NT_113891.3:g.4170260C>T, NT_113891.2:g.4170366C>T, NT_167248.2:g.3950988C>T, NT_167248.1:g.3956584C>T, NT_167245.2:g.4001443C>T, NT_167245.1:g.4007028C>T, NT_167249.2:g.4156832C>T, NT_167249.1:g.4156130C>T, NT_167246.2:g.4176039C>T, NT_167246.1:g.4181659C>T, NT_167247.2:g.4056062C>T, NT_167247.1:g.4061647C>T, NT_167244.2:g.4062826C>T, NT_167244.1:g.4012742C>T

Select item 148903570911.

rs1489035709 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:32757521 (GRCh38)
6:32725298 (GRCh37)
Canonical SPDI:: NC_000006.12:32757520:G:A
Gene:: HLA-DQB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000142/2 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.32757521G>A, NC_000006.11:g.32725298G>A, NT_113891.3:g.4171095G>A, NT_113891.2:g.4171201G>A, NT_167248.2:g.3951824G>A, NT_167248.1:g.3957420G>A, NT_167245.2:g.4002279G>A, NT_167245.1:g.4007864G>A, NT_167249.2:g.4157666G>A, NT_167249.1:g.4156964G>A, NT_167246.2:g.4176875G>A, NT_167246.1:g.4182495G>A, NT_167247.2:g.4056898G>A, NT_167247.1:g.4062483G>A, NT_167244.2:g.4063661G>A, NT_167244.1:g.4013577G>A

Select item 148890033112.

rs1488900331 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:32759329 (GRCh38)
6:32727106 (GRCh37)
Canonical SPDI:: NC_000006.12:32759328:G:T
Gene:: HLA-DQB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00066/7 (ALFA)
T=0.01872/529 (TOMMO)
HGVS:: NC_000006.12:g.32759329G>T, NC_000006.11:g.32727106G>T, NT_113891.3:g.4172903G>T, NT_113891.2:g.4173009G>T, NT_167248.2:g.3953634G>T, NT_167248.1:g.3959230G>T, NT_167245.2:g.4004089G>T, NT_167245.1:g.4009674G>T, NT_167249.2:g.4159474G>T, NT_167249.1:g.4158772G>T, NT_167246.2:g.4178685G>T, NT_167246.1:g.4184305G>T, NT_167247.2:g.4058708G>T, NT_167247.1:g.4064293G>T, NT_167244.2:g.4065469G>T, NT_167244.1:g.4015385G>T

Select item 148857254713.

rs1488572547 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:32763683 (GRCh38)
6:32731460 (GRCh37)
Canonical SPDI:: NC_000006.12:32763682:C:A,NC_000006.12:32763682:C:T
Gene:: HLA-DQB2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
A=0.001718/11 (1000Genomes)
HGVS:: NC_000006.12:g.32763683C>A, NC_000006.12:g.32763683C>T, NC_000006.11:g.32731460C>A, NC_000006.11:g.32731460C>T, NT_113891.3:g.4177257C>A, NT_113891.3:g.4177257C>T, NT_113891.2:g.4177363C>A, NT_113891.2:g.4177363C>T, NT_167248.2:g.3957987C>A, NT_167248.2:g.3957987C>T, NT_167248.1:g.3963583C>A, NT_167248.1:g.3963583C>T, NT_167245.2:g.4008442C>A, NT_167245.2:g.4008442C>T, NT_167245.1:g.4014027C>A, NT_167245.1:g.4014027C>T, NT_167249.2:g.4163828C>A, NT_167249.2:g.4163828C>T, NT_167249.1:g.4163126C>A, NT_167249.1:g.4163126C>T, NT_167246.2:g.4183038C>A, NT_167246.2:g.4183038C>T, NT_167246.1:g.4188658C>A, NT_167246.1:g.4188658C>T, NT_167247.2:g.4063061C>A, NT_167247.2:g.4063061C>T, NT_167247.1:g.4068646C>A, NT_167247.1:g.4068646C>T, NT_167244.2:g.4069823C>A, NT_167244.2:g.4069823C>T, NT_167244.1:g.4019739C>A, NT_167244.1:g.4019739C>T

Select item 148794354314.

rs1487943543 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:32761797 (GRCh38)
6:32729574 (GRCh37)
Canonical SPDI:: NC_000006.12:32761796:T:C
Gene:: HLA-DQB2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0.04552/540 (ALFA)
HGVS:: NC_000006.12:g.32761797T>C, NC_000006.11:g.32729574T>C, NT_113891.3:g.4175371T>C, NT_113891.2:g.4175477T>C, NT_167248.2:g.3956101T>C, NT_167248.1:g.3961697T>C, NT_167245.2:g.4006556T>C, NT_167245.1:g.4012141T>C, NT_167249.2:g.4161942T>C, NT_167249.1:g.4161240T>C, NT_167246.2:g.4181152T>C, NT_167246.1:g.4186772T>C, NT_167247.2:g.4061175T>C, NT_167247.1:g.4066760T>C, NT_167244.2:g.4067937T>C, NT_167244.1:g.4017853T>C, XM_005249051.5:c.227A>G, XM_005249051.4:c.227A>G, XM_005249051.3:c.227A>G, XM_005249051.2:c.227A>G, XM_005249051.1:c.227A>G, XM_011514561.4:c.227A>G, XM_011514561.3:c.227A>G, XM_011514561.2:c.227A>G, XM_011514561.1:c.227A>G, XM_011514560.3:c.227A>G, XM_011514560.2:c.227A>G, XM_011514560.1:c.227A>G, NM_001300790.2:c.227A>G, NM_001300790.1:c.227A>G, NM_001198858.2:c.227A>G, NM_001198858.1:c.227A>G, NR_003937.1:n.310A>G, NM_182549.1:c.239A>G, XP_005249108.1:p.Gln76Arg, XP_011512863.1:p.Gln76Arg, XP_011512862.1:p.Gln76Arg, NP_001287719.1:p.Gln76Arg, NP_001185787.1:p.Gln76Arg

Select item 148755923215.

rs1487559232 [Homo sapiens]

Variant type:: DEL
Alleles:: CAACCCTGCAGGG>- [Show Flanks]
Chromosome:: 6:32761438 (GRCh38)
6:32729215 (GRCh37)
Canonical SPDI:: NC_000006.12:32761437:CAACCCTGCAGGG:
Gene:: HLA-DQB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00103/17 (TOMMO)
HGVS:: NC_000006.12:g.32761438_32761450del, NC_000006.11:g.32729215_32729227del, NT_113891.3:g.4175012_4175024del, NT_113891.2:g.4175118_4175130del, NT_167248.2:g.3955743_3955755del, NT_167248.1:g.3961339_3961351del, NT_167245.2:g.4006198_4006210del, NT_167245.1:g.4011783_4011795del, NT_167249.2:g.4161583_4161595del, NT_167249.1:g.4160881_4160893del, NT_167246.2:g.4180794_4180806del, NT_167246.1:g.4186414_4186426del, NT_167247.2:g.4060817_4060829del, NT_167247.1:g.4066402_4066414del, NT_167244.2:g.4067578_4067590del, NT_167244.1:g.4017494_4017506del

Select item 148671924616.

rs1486719246 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:32761618 (GRCh38)
6:32729395 (GRCh37)
Canonical SPDI:: NC_000006.12:32761617:C:T
Gene:: HLA-DQB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.32761618C>T, NC_000006.11:g.32729395C>T, NT_113891.3:g.4175192C>T, NT_113891.2:g.4175298C>T, NT_167248.2:g.3955922C>T, NT_167248.1:g.3961518C>T, NT_167245.2:g.4006377C>T, NT_167245.1:g.4011962C>T, NT_167249.2:g.4161763C>T, NT_167249.1:g.4161061C>T, NT_167246.2:g.4180973C>T, NT_167246.1:g.4186593C>T, NT_167247.2:g.4060996C>T, NT_167247.1:g.4066581C>T, NT_167244.2:g.4067758C>T, NT_167244.1:g.4017674C>T

Select item 148662946517.

rs1486629465 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:32755916 (GRCh38)
6:32723693 (GRCh37)
Canonical SPDI:: NC_000006.12:32755915:T:C
Gene:: HLA-DQB2 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.002782/33 (ALFA)
C=0.00015/19 (GnomAD)
C=0.006871/44 (1000Genomes)
C=0.008387/237 (TOMMO)
HGVS:: NC_000006.12:g.32755916T>C, NC_000006.11:g.32723693T>C, NT_113891.3:g.4169489T>C, NT_113891.2:g.4169595T>C, NT_167248.2:g.3950217T>C, NT_167248.1:g.3955813T>C, NT_167245.2:g.4000672T>C, NT_167245.1:g.4006257T>C, NT_167249.2:g.4156061T>C, NT_167249.1:g.4155359T>C, NT_167246.2:g.4175268T>C, NT_167246.1:g.4180888T>C, NT_167247.2:g.4055291T>C, NT_167247.1:g.4060876T>C, NT_167244.2:g.4062055T>C, NT_167244.1:g.4011971T>C

Select item 148650359518.

rs1486503595 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 6:32760366 (GRCh38)
6:32728143 (GRCh37)
Canonical SPDI:: NC_000006.12:32760365:T:
Gene:: HLA-DQB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.0007/3 (ALFA)
-=0.0007/3 (Estonian)
HGVS:: NC_000006.12:g.32760366del, NC_000006.11:g.32728143del, NT_113891.3:g.4173940del, NT_113891.2:g.4174046del, NT_167248.2:g.3954671del, NT_167248.1:g.3960267del, NT_167245.2:g.4005126del, NT_167245.1:g.4010711del, NT_167249.2:g.4160511del, NT_167249.1:g.4159809del, NT_167246.2:g.4179722del, NT_167246.1:g.4185342del, NT_167247.2:g.4059745del, NT_167247.1:g.4065330del, NT_167244.2:g.4066506del, NT_167244.1:g.4016422del

Select item 148604865319.

rs1486048653 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:32760890 (GRCh38)
6:32728667 (GRCh37)
Canonical SPDI:: NC_000006.12:32760889:A:C
Gene:: HLA-DQB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.32760890A>C, NC_000006.11:g.32728667A>C, NT_113891.3:g.4174464A>C, NT_113891.2:g.4174570A>C, NT_167248.2:g.3955195A>C, NT_167248.1:g.3960791A>C, NT_167245.2:g.4005650A>C, NT_167245.1:g.4011235A>C, NT_167249.2:g.4161035A>C, NT_167249.1:g.4160333A>C, NT_167246.2:g.4180246A>C, NT_167246.1:g.4185866A>C, NT_167247.2:g.4060269A>C, NT_167247.1:g.4065854A>C, NT_167244.2:g.4067030A>C, NT_167244.1:g.4016946A>C

Select item 148571860020.

rs1485718600 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 6:32759404 (GRCh38)
6:32727181 (GRCh37)
Canonical SPDI:: NC_000006.12:32759403:GG:
Gene:: HLA-DQB2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00007/1 (TOMMO)
HGVS:: NC_000006.12:g.32759404_32759405del, NC_000006.11:g.32727181_32727182del, NT_113891.3:g.4172978_4172979del, NT_113891.2:g.4173084_4173085del, NT_167248.2:g.3953709_3953710del, NT_167248.1:g.3959305_3959306del, NT_167245.2:g.4004164_4004165del, NT_167245.1:g.4009749_4009750del, NT_167249.2:g.4159549_4159550del, NT_167249.1:g.4158847_4158848del, NT_167246.2:g.4178760_4178761del, NT_167246.1:g.4184380_4184381del, NT_167247.2:g.4058783_4058784del, NT_167247.1:g.4064368_4064369del, NT_167244.2:g.4065544_4065545del, NT_167244.1:g.4015460_4015461del

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