SNP Links for Gene (Select 11082) - SNP

Links from Gene

Items: 1 to 20 of 2138

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Select item 14905654391.

rs1490565439 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:54980751 (GRCh38)
5:54276579 (GRCh37)
Canonical SPDI:: NC_000005.10:54980750:A:G
Gene:: ESM1 (Varview)
Functional Consequence:: intron_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_000005.10:g.54980751A>G, NC_000005.9:g.54276579A>G

Select item 14905025622.

rs1490502562 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:54977983 (GRCh38)
5:54273811 (GRCh37)
Canonical SPDI:: NC_000005.10:54977982:C:T
Gene:: ESM1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000005.10:g.54977983C>T, NC_000005.9:g.54273811C>T, NM_007036.5:c.*1349G>A, NM_007036.4:c.*1349G>A, NM_001135604.2:c.*1349G>A, NM_001135604.1:c.*1349G>A

Select item 14900841483.

rs1490084148 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:54980194 (GRCh38)
5:54276022 (GRCh37)
Canonical SPDI:: NC_000005.10:54980193:A:G
Gene:: ESM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
G=0.000684/2 (KOREAN)
HGVS:: NC_000005.10:g.54980194A>G, NC_000005.9:g.54276022A>G

Select item 14900530234.

rs1490053023 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:54979200 (GRCh38)
5:54275028 (GRCh37)
Canonical SPDI:: NC_000005.10:54979199:A:G
Gene:: ESM1 (Varview)
Functional Consequence:: 3_prime_UTR_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_000005.10:g.54979200A>G, NC_000005.9:g.54275028A>G, NM_007036.5:c.*132T>C, NM_007036.4:c.*132T>C, NM_001135604.2:c.*132T>C, NM_001135604.1:c.*132T>C

Select item 14892729065.

rs1489272906 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:54981219 (GRCh38)
5:54277047 (GRCh37)
Canonical SPDI:: NC_000005.10:54981218:A:G
Gene:: ESM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.54981219A>G, NC_000005.9:g.54277047A>G

Select item 14892366336.

rs1489236633 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:54984781 (GRCh38)
5:54280609 (GRCh37)
Canonical SPDI:: NC_000005.10:54984780:C:A
Gene:: ESM1 (Varview)
Functional Consequence:: intron_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_000005.10:g.54984781C>A, NC_000005.9:g.54280609C>A

Select item 14891743087.

rs1489174308 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 5:54983627 (GRCh38)
5:54279455 (GRCh37)
Canonical SPDI:: NC_000005.10:54983626:C:A,NC_000005.10:54983626:C:G
Gene:: ESM1 (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)
A=0.000106/2 (TOMMO)
HGVS:: NC_000005.10:g.54983627C>A, NC_000005.10:g.54983627C>G, NC_000005.9:g.54279455C>A, NC_000005.9:g.54279455C>G

Select item 14881013868.

rs1488101386 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:54978299 (GRCh38)
5:54274127 (GRCh37)
Canonical SPDI:: NC_000005.10:54978298:G:A,NC_000005.10:54978298:G:C
Gene:: ESM1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
A=0.000071/1 (TOMMO)
HGVS:: NC_000005.10:g.54978299G>A, NC_000005.10:g.54978299G>C, NC_000005.9:g.54274127G>A, NC_000005.9:g.54274127G>C, NM_007036.5:c.*1033C>T, NM_007036.5:c.*1033C>G, NM_007036.4:c.*1033C>T, NM_007036.4:c.*1033C>G, NM_001135604.2:c.*1033C>T, NM_001135604.2:c.*1033C>G, NM_001135604.1:c.*1033C>T, NM_001135604.1:c.*1033C>G

Select item 14880360669.

rs1488036066 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:54986948 (GRCh38)
5:54282776 (GRCh37)
Canonical SPDI:: NC_000005.10:54986947:A:G
Gene:: ESM1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000005.10:g.54986948A>G, NC_000005.9:g.54282776A>G

Select item 148736551510.

rs1487365515 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:54986768 (GRCh38)
5:54282596 (GRCh37)
Canonical SPDI:: NC_000005.10:54986767:C:T
Gene:: ESM1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.54986768C>T, NC_000005.9:g.54282596C>T

Select item 148600854011.

rs1486008540 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:54979203 (GRCh38)
5:54275031 (GRCh37)
Canonical SPDI:: NC_000005.10:54979202:C:A
Gene:: ESM1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.54979203C>A, NC_000005.9:g.54275031C>A, NM_007036.5:c.*129G>T, NM_007036.4:c.*129G>T, NM_001135604.2:c.*129G>T, NM_001135604.1:c.*129G>T

Select item 148509543312.

rs1485095433 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:54983385 (GRCh38)
5:54279213 (GRCh37)
Canonical SPDI:: NC_000005.10:54983384:C:T
Gene:: ESM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.54983385C>T, NC_000005.9:g.54279213C>T

Select item 148471852313.

rs1484718523 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:54987117 (GRCh38)
5:54282945 (GRCh37)
Canonical SPDI:: NC_000005.10:54987116:T:C
Gene:: ESM1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.54987117T>C, NC_000005.9:g.54282945T>C

Select item 148460842014.

rs1484608420 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:54980184 (GRCh38)
5:54276012 (GRCh37)
Canonical SPDI:: NC_000005.10:54980183:C:T
Gene:: ESM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.54980184C>T, NC_000005.9:g.54276012C>T

Select item 148437010715.

rs1484370107 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:54984082 (GRCh38)
5:54279910 (GRCh37)
Canonical SPDI:: NC_000005.10:54984081:A:G
Gene:: ESM1 (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_000005.10:g.54984082A>G, NC_000005.9:g.54279910A>G

Select item 148423655116.

rs1484236551 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:54982887 (GRCh38)
5:54278715 (GRCh37)
Canonical SPDI:: NC_000005.10:54982886:A:G
Gene:: ESM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.54982887A>G, NC_000005.9:g.54278715A>G

Select item 148415448517.

rs1484154485 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:54979746 (GRCh38)
5:54275574 (GRCh37)
Canonical SPDI:: NC_000005.10:54979745:T:C
Gene:: ESM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000005.10:g.54979746T>C, NC_000005.9:g.54275574T>C

Select item 148368463618.

rs1483684636 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:54987468 (GRCh38)
5:54283296 (GRCh37)
Canonical SPDI:: NC_000005.10:54987467:C:T
Gene:: ESM1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.54987468C>T, NC_000005.9:g.54283296C>T

Select item 148303574619.

rs1483035746 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:54978992 (GRCh38)
5:54274820 (GRCh37)
Canonical SPDI:: NC_000005.10:54978991:A:G
Gene:: ESM1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.54978992A>G, NC_000005.9:g.54274820A>G, NM_007036.5:c.*340T>C, NM_007036.4:c.*340T>C, NM_001135604.2:c.*340T>C, NM_001135604.1:c.*340T>C

Select item 148298405620.

rs1482984056 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:54981161 (GRCh38)
5:54276989 (GRCh37)
Canonical SPDI:: NC_000005.10:54981160:G:A
Gene:: ESM1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000005.10:g.54981161G>A, NC_000005.9:g.54276989G>A

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