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Select item 14913633091.

rs1491363309 has merged into rs11322219 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:170433143 (GRCh38)
3:170150931 (GRCh37)
Canonical SPDI:: NC_000003.12:170433130:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:170433130:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:170433130:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:170433130:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:170433130:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:170433130:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:170433130:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:170433130:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000003.12:170433130:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:170433130:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:170433130:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:170433130:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:170433130:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:170433130:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:170433130:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:170433130:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:170433130:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:170433130:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:170433130:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:170433130:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:170433130:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:170433130:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:170433130:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:170433130:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:170433130:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:170433130:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:170433130:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CLDN11 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000003.12:g.170433143_170433160del, NC_000003.12:g.170433144_170433160del, NC_000003.12:g.170433145_170433160del, NC_000003.12:g.170433146_170433160del, NC_000003.12:g.170433147_170433160del, NC_000003.12:g.170433148_170433160del, NC_000003.12:g.170433149_170433160del, NC_000003.12:g.170433150_170433160del, NC_000003.12:g.170433151_170433160del, NC_000003.12:g.170433152_170433160del, NC_000003.12:g.170433153_170433160del, NC_000003.12:g.170433154_170433160del, NC_000003.12:g.170433155_170433160del, NC_000003.12:g.170433156_170433160del, NC_000003.12:g.170433157_170433160del, NC_000003.12:g.170433158_170433160del, NC_000003.12:g.170433159_170433160del, NC_000003.12:g.170433160del, NC_000003.12:g.170433160dup, NC_000003.12:g.170433159_170433160dup, NC_000003.12:g.170433158_170433160dup, NC_000003.12:g.170433157_170433160dup, NC_000003.12:g.170433156_170433160dup, NC_000003.12:g.170433155_170433160dup, NC_000003.12:g.170433153_170433160dup, NC_000003.12:g.170433152_170433160dup, NC_000003.12:g.170433151_170433160dup, NC_000003.11:g.170150931_170150948del, NC_000003.11:g.170150932_170150948del, NC_000003.11:g.170150933_170150948del, NC_000003.11:g.170150934_170150948del, NC_000003.11:g.170150935_170150948del, NC_000003.11:g.170150936_170150948del, NC_000003.11:g.170150937_170150948del, NC_000003.11:g.170150938_170150948del, NC_000003.11:g.170150939_170150948del, NC_000003.11:g.170150940_170150948del, NC_000003.11:g.170150941_170150948del, NC_000003.11:g.170150942_170150948del, NC_000003.11:g.170150943_170150948del, NC_000003.11:g.170150944_170150948del, NC_000003.11:g.170150945_170150948del, NC_000003.11:g.170150946_170150948del, NC_000003.11:g.170150947_170150948del, NC_000003.11:g.170150948del, NC_000003.11:g.170150948dup, NC_000003.11:g.170150947_170150948dup, NC_000003.11:g.170150946_170150948dup, NC_000003.11:g.170150945_170150948dup, NC_000003.11:g.170150944_170150948dup, NC_000003.11:g.170150943_170150948dup, NC_000003.11:g.170150941_170150948dup, NC_000003.11:g.170150940_170150948dup, NC_000003.11:g.170150939_170150948dup, NM_005602.6:c.*387_*404del, NM_005602.6:c.*388_*404del, NM_005602.6:c.*389_*404del, NM_005602.6:c.*390_*404del, NM_005602.6:c.*391_*404del, NM_005602.6:c.*392_*404del, NM_005602.6:c.*393_*404del, NM_005602.6:c.*394_*404del, NM_005602.6:c.*395_*404del, NM_005602.6:c.*396_*404del, NM_005602.6:c.*397_*404del, NM_005602.6:c.*398_*404del, NM_005602.6:c.*399_*404del, NM_005602.6:c.*400_*404del, NM_005602.6:c.*401_*404del, NM_005602.6:c.*402_*404del, NM_005602.6:c.*403_*404del, NM_005602.6:c.*404del, NM_005602.6:c.*404dup, NM_005602.6:c.*403_*404dup, NM_005602.6:c.*402_*404dup, NM_005602.6:c.*401_*404dup, NM_005602.6:c.*400_*404dup, NM_005602.6:c.*399_*404dup, NM_005602.6:c.*397_*404dup, NM_005602.6:c.*396_*404dup, NM_005602.6:c.*395_*404dup, NM_005602.5:c.*387_*404del, NM_005602.5:c.*388_*404del, NM_005602.5:c.*389_*404del, NM_005602.5:c.*390_*404del, NM_005602.5:c.*391_*404del, NM_005602.5:c.*392_*404del, NM_005602.5:c.*393_*404del, NM_005602.5:c.*394_*404del, NM_005602.5:c.*395_*404del, NM_005602.5:c.*396_*404del, NM_005602.5:c.*397_*404del, NM_005602.5:c.*398_*404del, NM_005602.5:c.*399_*404del, NM_005602.5:c.*400_*404del, NM_005602.5:c.*401_*404del, NM_005602.5:c.*402_*404del, NM_005602.5:c.*403_*404del, NM_005602.5:c.*404del, NM_005602.5:c.*404dup, NM_005602.5:c.*403_*404dup, NM_005602.5:c.*402_*404dup, NM_005602.5:c.*401_*404dup, NM_005602.5:c.*400_*404dup, NM_005602.5:c.*399_*404dup, NM_005602.5:c.*397_*404dup, NM_005602.5:c.*396_*404dup, NM_005602.5:c.*395_*404dup, NM_001185056.2:c.*387_*404del, NM_001185056.2:c.*388_*404del, NM_001185056.2:c.*389_*404del, NM_001185056.2:c.*390_*404del, NM_001185056.2:c.*391_*404del, NM_001185056.2:c.*392_*404del, NM_001185056.2:c.*393_*404del, NM_001185056.2:c.*394_*404del, NM_001185056.2:c.*395_*404del, NM_001185056.2:c.*396_*404del, NM_001185056.2:c.*397_*404del, NM_001185056.2:c.*398_*404del, NM_001185056.2:c.*399_*404del, NM_001185056.2:c.*400_*404del, NM_001185056.2:c.*401_*404del, NM_001185056.2:c.*402_*404del, NM_001185056.2:c.*403_*404del, NM_001185056.2:c.*404del, NM_001185056.2:c.*404dup, NM_001185056.2:c.*403_*404dup, NM_001185056.2:c.*402_*404dup, NM_001185056.2:c.*401_*404dup, NM_001185056.2:c.*400_*404dup, NM_001185056.2:c.*399_*404dup, NM_001185056.2:c.*397_*404dup, NM_001185056.2:c.*396_*404dup, NM_001185056.2:c.*395_*404dup, NM_001185056.1:c.*387_*404del, NM_001185056.1:c.*388_*404del, NM_001185056.1:c.*389_*404del, NM_001185056.1:c.*390_*404del, NM_001185056.1:c.*391_*404del, NM_001185056.1:c.*392_*404del, NM_001185056.1:c.*393_*404del, NM_001185056.1:c.*394_*404del, NM_001185056.1:c.*395_*404del, NM_001185056.1:c.*396_*404del, NM_001185056.1:c.*397_*404del, NM_001185056.1:c.*398_*404del, NM_001185056.1:c.*399_*404del, NM_001185056.1:c.*400_*404del, NM_001185056.1:c.*401_*404del, NM_001185056.1:c.*402_*404del, NM_001185056.1:c.*403_*404del, NM_001185056.1:c.*404del, NM_001185056.1:c.*404dup, NM_001185056.1:c.*403_*404dup, NM_001185056.1:c.*402_*404dup, NM_001185056.1:c.*401_*404dup, NM_001185056.1:c.*400_*404dup, NM_001185056.1:c.*399_*404dup, NM_001185056.1:c.*397_*404dup, NM_001185056.1:c.*396_*404dup, NM_001185056.1:c.*395_*404dup

Select item 14912592522.

rs1491259252 has merged into rs71176567 [Homo sapiens]

Variant type:: DELINS
Alleles:: GG>-,G,GGG,GGGG,GGGGG,GGGGGGGGG,GGGGGGGGGGGG,GGGGGGGGGGGGG,GGGGGGGGGGGGGG,GGGGGGGGGGGGGGGGGGGGG [Show Flanks]
Chromosome:: 3:170421161 (GRCh38)
3:170138949 (GRCh37)
Canonical SPDI:: NC_000003.12:170421152:GGGGGGGGGG:GGGGGGGG,NC_000003.12:170421152:GGGGGGGGGG:GGGGGGGGG,NC_000003.12:170421152:GGGGGGGGGG:GGGGGGGGGGG,NC_000003.12:170421152:GGGGGGGGGG:GGGGGGGGGGGG,NC_000003.12:170421152:GGGGGGGGGG:GGGGGGGGGGGGG,NC_000003.12:170421152:GGGGGGGGGG:GGGGGGGGGGGGGGGGG,NC_000003.12:170421152:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGGG,NC_000003.12:170421152:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGG,NC_000003.12:170421152:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGG,NC_000003.12:170421152:GGGGGGGGGG:GGGGGGGGGGGGGGGGGGGGGGGGGGGGG
Gene:: CLDN11 (Varview), MIR6828 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGGGGGGGG=0.0002/1 (ALFA)
G=0.268/1342 (1000Genomes)
-=0.4/12 (GENOME_DK)
HGVS:: NC_000003.12:g.170421161_170421162del, NC_000003.12:g.170421162del, NC_000003.12:g.170421162dup, NC_000003.12:g.170421161_170421162dup, NC_000003.12:g.170421160_170421162dup, NC_000003.12:g.170421156_170421162dup, NC_000003.12:g.170421153_170421162dup, NC_000003.12:g.170421162_170421163insGGGGGGGGGGG, NC_000003.12:g.170421162_170421163insGGGGGGGGGGGG, NC_000003.12:g.170421162_170421163insGGGGGGGGGGGGGGGGGGG, NC_000003.11:g.170138949_170138950del, NC_000003.11:g.170138950del, NC_000003.11:g.170138950dup, NC_000003.11:g.170138949_170138950dup, NC_000003.11:g.170138948_170138950dup, NC_000003.11:g.170138944_170138950dup, NC_000003.11:g.170138941_170138950dup, NC_000003.11:g.170138950_170138951insGGGGGGGGGGG, NC_000003.11:g.170138950_170138951insGGGGGGGGGGGG, NC_000003.11:g.170138950_170138951insGGGGGGGGGGGGGGGGGGG

Select item 14911910743.

rs1491191074 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 3:170433130 (GRCh38)
3:170150918 (GRCh37)
Canonical SPDI:: NC_000003.12:170433129:CT:
Gene:: CLDN11 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000003.12:g.170433130_170433131del, NC_000003.11:g.170150918_170150919del, NM_005602.6:c.*374_*375del, NM_005602.5:c.*374_*375del, NM_001185056.2:c.*374_*375del, NM_001185056.1:c.*374_*375del

Select item 14911541854.

rs1491154185 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 3:170430544 (GRCh38)
3:170148333 (GRCh37)
Canonical SPDI:: NC_000003.12:170430544::C
Gene:: CLDN11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000084/1 (ALFA)
C=0.000045/12 (TOPMED)
C=0.001462/4 (GnomAD)
HGVS:: NC_000003.12:g.170430544_170430545insC, NC_000003.11:g.170148332_170148333insC

Select item 14911174735.

rs1491117473 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TGGGGGGGG [Show Flanks]
Chromosome:: 3:170421153 (GRCh38)
3:170138942 (GRCh37)
Canonical SPDI:: NC_000003.12:170421153:GGGGGGGG:GGGGGGGGTGGGGGGGG
Gene:: CLDN11 (Varview), MIR6828 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GGGGGGGGTGGGGGGGG=0.00008/1 (ALFA)
HGVS:: NC_000003.12:g.170421154_170421161G[8]TGGGGGGGG[1], NC_000003.11:g.170138942_170138949G[8]TGGGGGGGG[1]

Select item 14911129286.

rs1491112928 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 3:170424039 (GRCh38)
3:170141827 (GRCh37)
Canonical SPDI:: NC_000003.12:170424037:AGA:A
Gene:: CLDN11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000003.12:g.170424039_170424040del, NC_000003.11:g.170141827_170141828del

Select item 14909209757.

rs1490920975 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 3:170421151 (GRCh38)
3:170138940 (GRCh37)
Canonical SPDI:: NC_000003.12:170421151:T:TT
Gene:: CLDN11 (Varview), MIR6828 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.000009/1 (GnomAD)
HGVS:: NC_000003.12:g.170421152dup, NC_000003.11:g.170138940dup

Select item 14907616058.

rs1490761605 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,AA,AAAAAAAAA [Show Flanks]
Chromosome:: 3:170426257 (GRCh38)
3:170144045 (GRCh37)
Canonical SPDI:: NC_000003.12:170426252:AAAAAAA:AAAA,NC_000003.12:170426252:AAAAAAA:AAAAAA,NC_000003.12:170426252:AAAAAAA:AAAAAAAAAAAAA
Gene:: CLDN11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.00021/4 (TOMMO)
HGVS:: NC_000003.12:g.170426257_170426259del, NC_000003.12:g.170426259del, NC_000003.12:g.170426254_170426259dup, NC_000003.11:g.170144045_170144047del, NC_000003.11:g.170144047del, NC_000003.11:g.170144042_170144047dup

Select item 14906405259.

rs1490640525 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:170418270 (GRCh38)
3:170136058 (GRCh37)
Canonical SPDI:: NC_000003.12:170418269:G:A,NC_000003.12:170418269:G:T
Gene:: CLDN11 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.170418270G>A, NC_000003.12:g.170418270G>T, NC_000003.11:g.170136058G>A, NC_000003.11:g.170136058G>T

Select item 149056720210.

rs1490567202 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:170434924 (GRCh38)
3:170152712 (GRCh37)
Canonical SPDI:: NC_000003.12:170434923:G:A
Gene:: CLDN11 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.170434924G>A, NC_000003.11:g.170152712G>A

Select item 149009675711.

rs1490096757 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:170420206 (GRCh38)
3:170137994 (GRCh37)
Canonical SPDI:: NC_000003.12:170420205:G:A
Gene:: CLDN11 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000003.12:g.170420206G>A, NC_000003.11:g.170137994G>A

Select item 148951366512.

rs1489513665 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:170418783 (GRCh38)
3:170136571 (GRCh37)
Canonical SPDI:: NC_000003.12:170418782:C:T
Gene:: CLDN11 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000108/2 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000021/3 (GnomAD)
T=0.00067/3 (Estonian)
HGVS:: NC_000003.12:g.170418783C>T, NC_000003.11:g.170136571C>T

Select item 148945942013.

rs1489459420 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:170426414 (GRCh38)
3:170144202 (GRCh37)
Canonical SPDI:: NC_000003.12:170426413:G:A
Gene:: CLDN11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000034/9 (TOPMED)
HGVS:: NC_000003.12:g.170426414G>A, NC_000003.11:g.170144202G>A

Select item 148916082414.

rs1489160824 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:170428470 (GRCh38)
3:170146258 (GRCh37)
Canonical SPDI:: NC_000003.12:170428469:G:A
Gene:: CLDN11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000003.12:g.170428470G>A, NC_000003.11:g.170146258G>A

Select item 148909708615.

rs1489097086 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCT>- [Show Flanks]
Chromosome:: 3:170433912 (GRCh38)
3:170151700 (GRCh37)
Canonical SPDI:: NC_000003.12:170433908:TCTCTCT:TCT
Gene:: CLDN11 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: TCT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.170433910CT[1], NC_000003.11:g.170151698CT[1], NM_005602.6:c.*1154CT[1], NM_005602.5:c.*1154CT[1], NM_001185056.2:c.*1154CT[1], NM_001185056.1:c.*1154CT[1]

Select item 148903015916.

rs1489030159 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:170417008 (GRCh38)
3:170134796 (GRCh37)
Canonical SPDI:: NC_000003.12:170417006:ACA:A
Gene:: CLDN11 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.170417008_170417009del, NC_000003.11:g.170134796_170134797del

Select item 148893499817.

rs1488934998 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:170421254 (GRCh38)
3:170139042 (GRCh37)
Canonical SPDI:: NC_000003.12:170421253:G:A
Gene:: CLDN11 (Varview), MIR6828 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.170421254G>A, NC_000003.11:g.170139042G>A, NM_001185056.2:c.-110G>A, NM_001185056.1:c.-110G>A

Select item 148892817218.

rs1488928172 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:170429813 (GRCh38)
3:170147601 (GRCh37)
Canonical SPDI:: NC_000003.12:170429812:A:G
Gene:: CLDN11 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.170429813A>G, NC_000003.11:g.170147601A>G

Select item 148838828519.

rs1488388285 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:170433982 (GRCh38)
3:170151770 (GRCh37)
Canonical SPDI:: NC_000003.12:170433981:A:G
Gene:: CLDN11 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.170433982A>G, NC_000003.11:g.170151770A>G, NM_005602.6:c.*1226A>G, NM_005602.5:c.*1226A>G, NM_001185056.2:c.*1226A>G, NM_001185056.1:c.*1226A>G

Select item 148838527120.

rs1488385271 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:170421555 (GRCh38)
3:170139343 (GRCh37)
Canonical SPDI:: NC_000003.12:170421554:T:C
Gene:: CLDN11 (Varview), MIR6828 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000003.12:g.170421555T>C, NC_000003.11:g.170139343T>C

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