SNP Links for Gene (Select 401127) - SNP

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Select item 14909787731.

rs1490978773 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:39480663 (GRCh38)
4:39482283 (GRCh37)
Canonical SPDI:: NC_000004.12:39480662:G:A
Gene:: LOC401127 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.39480663G>A, NC_000004.11:g.39482283G>A, NR_026854.1:n.409G>A

Select item 14904868992.

rs1490486899 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:39480237 (GRCh38)
4:39481857 (GRCh37)
Canonical SPDI:: NC_000004.12:39480236:G:A
Gene:: LOC401127 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000283/5 (TOMMO)
A=0.000546/1 (Korea1K)
A=0.001027/3 (KOREAN)
HGVS:: NC_000004.12:g.39480237G>A, NC_000004.11:g.39481857G>A

Select item 14895469363.

rs1489546936 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:39479681 (GRCh38)
4:39481301 (GRCh37)
Canonical SPDI:: NC_000004.12:39479680:T:A
Gene:: LIAS (Varview), LOC401127 (Varview)
Functional Consequence:: upstream_transcript_variant,500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000004.12:g.39479681T>A, NC_000004.11:g.39481301T>A

Select item 14892141004.

rs1489214100 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:39481047 (GRCh38)
4:39482667 (GRCh37)
Canonical SPDI:: NC_000004.12:39481046:T:C
Gene:: LOC401127 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
C=0.000142/2 (TOMMO)
C=0.000546/1 (Korea1K)
HGVS:: NC_000004.12:g.39481047T>C, NC_000004.11:g.39482667T>C, NR_026854.1:n.793T>C

Select item 14879359115.

rs1487935911 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:39479264 (GRCh38)
4:39480884 (GRCh37)
Canonical SPDI:: NC_000004.12:39479263:C:A
Gene:: LIAS (Varview), LOC401127 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.39479264C>A, NC_000004.11:g.39480884C>A, NG_032111.1:g.25220C>A, NM_006859.4:c.*2149C>A, NM_194451.3:c.*2187C>A, NM_001278590.2:c.*2149C>A, NM_001363700.2:c.*2149C>A

Select item 14872735026.

rs1487273502 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 4:39482039 (GRCh38)
4:39483659 (GRCh37)
Canonical SPDI:: NC_000004.12:39482038:T:A
Gene:: LOC401127 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
HGVS:: NC_000004.12:g.39482039T>A, NC_000004.11:g.39483659T>A

Select item 14861979767.

rs1486197976 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:39480531 (GRCh38)
4:39482151 (GRCh37)
Canonical SPDI:: NC_000004.12:39480530:A:G
Gene:: LOC401127 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000004.12:g.39480531A>G, NC_000004.11:g.39482151A>G, NR_026854.1:n.277A>G

Select item 14859091378.

rs1485909137 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:39481916 (GRCh38)
4:39483536 (GRCh37)
Canonical SPDI:: NC_000004.12:39481915:T:C
Gene:: LOC401127 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000026/7 (TOPMED)
C=0.000064/9 (GnomAD)
HGVS:: NC_000004.12:g.39481916T>C, NC_000004.11:g.39483536T>C

Select item 14855816219.

rs1485581621 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 4:39480805 (GRCh38)
4:39482425 (GRCh37)
Canonical SPDI:: NC_000004.12:39480804:A:T
Gene:: LOC401127 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000004.12:g.39480805A>T, NC_000004.11:g.39482425A>T, NR_026854.1:n.551A>T

Select item 148518847410.

rs1485188474 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 4:39480507 (GRCh38)
4:39482127 (GRCh37)
Canonical SPDI:: NC_000004.12:39480506:C:A
Gene:: LOC401127 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000004.12:g.39480507C>A, NC_000004.11:g.39482127C>A, NR_026854.1:n.253C>A

Select item 148397917811.

rs1483979178 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:39479405 (GRCh38)
4:39481025 (GRCh37)
Canonical SPDI:: NC_000004.12:39479404:A:G
Gene:: LIAS (Varview), LOC401127 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000004.12:g.39479405A>G, NC_000004.11:g.39481025A>G, NG_032111.1:g.25361A>G, NM_006859.4:c.*2290A>G, NM_194451.3:c.*2328A>G, NM_001278590.2:c.*2290A>G, NM_001363700.2:c.*2290A>G

Select item 148394908712.

rs1483949087 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 4:39479735 (GRCh38)
4:39481355 (GRCh37)
Canonical SPDI:: NC_000004.12:39479734:C:A,NC_000004.12:39479734:C:T
Gene:: LIAS (Varview), LOC401127 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000011/3 (TOPMED)
T=0.000156/1 (1000Genomes)
HGVS:: NC_000004.12:g.39479735C>A, NC_000004.12:g.39479735C>T, NC_000004.11:g.39481355C>A, NC_000004.11:g.39481355C>T

Select item 148383596113.

rs1483835961 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 4:39478443 (GRCh38)
4:39480063 (GRCh37)
Canonical SPDI:: NC_000004.12:39478442:G:T
Gene:: LIAS (Varview), LOC401127 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000004.12:g.39478443G>T, NC_000004.11:g.39480063G>T, NG_032111.1:g.24399G>T, NM_006859.4:c.*1328G>T, NM_194451.3:c.*1366G>T, NM_001278590.2:c.*1328G>T, NM_001363700.2:c.*1328G>T

Select item 148361344014.

rs1483613440 [Homo sapiens]

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

Select item 148221769315.

rs1482217693 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 4:39478454 (GRCh38)
4:39480074 (GRCh37)
Canonical SPDI:: NC_000004.12:39478453:A:G,NC_000004.12:39478453:A:T
Gene:: LIAS (Varview), LOC401127 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000004.12:g.39478454A>G, NC_000004.12:g.39478454A>T, NC_000004.11:g.39480074A>G, NC_000004.11:g.39480074A>T, NG_032111.1:g.24410A>G, NG_032111.1:g.24410A>T, NM_006859.4:c.*1339A>G, NM_006859.4:c.*1339A>T, NM_194451.3:c.*1377A>G, NM_194451.3:c.*1377A>T, NM_001278590.2:c.*1339A>G, NM_001278590.2:c.*1339A>T, NM_001363700.2:c.*1339A>G, NM_001363700.2:c.*1339A>T

Select item 148215133416.

rs1482151334 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 4:39478852 (GRCh38)
4:39480472 (GRCh37)
Canonical SPDI:: NC_000004.12:39478851:A:C
Gene:: LIAS (Varview), LOC401127 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.00003/8 (TOPMED)
HGVS:: NC_000004.12:g.39478852A>C, NC_000004.11:g.39480472A>C, NG_032111.1:g.24808A>C, NM_006859.4:c.*1737A>C, NM_194451.3:c.*1775A>C, NM_001278590.2:c.*1737A>C, NM_001363700.2:c.*1737A>C

Select item 148153012817.

rs1481530128 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 4:39481253 (GRCh38)
4:39482873 (GRCh37)
Canonical SPDI:: NC_000004.12:39481252:T:C
Gene:: LOC401127 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000004.12:g.39481253T>C, NC_000004.11:g.39482873T>C, NR_026854.1:n.999T>C

Select item 148141846518.

rs1481418465 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TC [Show Flanks]
Chromosome:: 4:39480754 (GRCh38)
4:39482375 (GRCh37)
Canonical SPDI:: NC_000004.12:39480754:TC:TCTC
Gene:: LOC401127 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: TCTC=0./0 (ALFA)
TC=0.000008/2 (TOPMED)
HGVS:: NC_000004.12:g.39480755_39480756dup, NC_000004.11:g.39482375_39482376dup, NR_026854.1:n.501_502dup

Select item 148051768319.

rs1480517683 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 4:39480349 (GRCh38)
4:39481969 (GRCh37)
Canonical SPDI:: NC_000004.12:39480348:A:G
Gene:: LOC401127 (Varview)
Functional Consequence:: non_coding_transcript_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_000004.12:g.39480349A>G, NC_000004.11:g.39481969A>G, NR_026854.1:n.95A>G

Select item 147929990920.

rs1479299909 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 4:39481628 (GRCh38)
4:39483248 (GRCh37)
Canonical SPDI:: NC_000004.12:39481627:G:A
Gene:: LOC401127 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000004.12:g.39481628G>A, NC_000004.11:g.39483248G>A, NR_026854.1:n.1374G>A

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