SNP Links for Gene (Select 10328) - SNP

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Items: 1 to 20 of 7179

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Select item 14915860271.

rs1491586027 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 16:85790837 (GRCh38)
16:85824443 (GRCh37)
Canonical SPDI:: NC_000016.10:85790836:CT:
Gene:: EMC8 (Varview), LOC101928557 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.85790837_85790838del, NC_000016.9:g.85824443_85824444del

Select item 14912138382.

rs1491213838 [Homo sapiens]

Variant type:: INS
Alleles:: ->TA,TTTA [Show Flanks]
Chromosome:: 16:85779349 (GRCh38)
16:85812956 (GRCh37)
Canonical SPDI:: NC_000016.10:85779349::TA,NC_000016.10:85779349::TTTA
Gene:: EMC8 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTA=0./0 (ALFA)
HGVS:: NC_000016.10:g.85779349_85779350insTA, NC_000016.10:g.85779349_85779350insTTTA, NC_000016.9:g.85812955_85812956insTA, NC_000016.9:g.85812955_85812956insTTTA, NM_006067.5:c.*358_*359insTA, NM_006067.5:c.*358_*359insTAAA, NM_006067.4:c.*358_*359insTA, NM_006067.4:c.*358_*359insTAAA, XM_017022867.2:c.*358_*359insTA, XM_017022867.2:c.*358_*359insTAAA, XM_017022867.1:c.*358_*359insTA, XM_017022867.1:c.*358_*359insTAAA, NM_001142288.2:c.*515_*516insTA, NM_001142288.2:c.*515_*516insTAAA, NM_001142288.1:c.*515_*516insTA, NM_001142288.1:c.*515_*516insTAAA

Select item 14910038723.

rs1491003872 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:85799125 (GRCh38)
16:85832731 (GRCh37)
Canonical SPDI:: NC_000016.10:85799124:G:A
Gene:: COX4I1 (Varview), EMC8 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,non_coding_transcript_variant,5_prime_UTR_variant
HGVS:: NC_000016.10:g.85799125G>A, NC_000016.9:g.85832731G>A, NG_042280.1:g.4559G>A, NM_006067.5:c.171C>T, NM_006067.4:c.171C>T, XM_011522813.4:c.171C>T, XM_011522813.3:c.171C>T, XM_011522813.2:c.171C>T, XM_011522813.1:c.171C>T, XR_001751817.3:n.420C>T, XR_001751817.2:n.431C>T, XR_001751817.1:n.620C>T, XM_017022867.2:c.-6436C>T, NM_001142288.2:c.171C>T, NM_001142288.1:c.171C>T

Select item 14907854484.

rs1490785448 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:85780927 (GRCh38)
16:85814533 (GRCh37)
Canonical SPDI:: NC_000016.10:85780926:T:C
Gene:: EMC8 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,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_000016.10:g.85780927T>C, NC_000016.9:g.85814533T>C

Select item 14905117355.

rs1490511735 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:85801161 (GRCh38)
16:85834767 (GRCh37)
Canonical SPDI:: NC_000016.10:85801160:G:A,NC_000016.10:85801160:G:C
Gene:: COX4I1 (Varview), EMC8 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.85801161G>A, NC_000016.10:g.85801161G>C, NC_000016.9:g.85834767G>A, NC_000016.9:g.85834767G>C, NG_042280.1:g.6595G>A, NG_042280.1:g.6595G>C

Select item 14904600946.

rs1490460094 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:85781328 (GRCh38)
16:85814934 (GRCh37)
Canonical SPDI:: NC_000016.10:85781327:T:A
Gene:: EMC8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000016.10:g.85781328T>A, NC_000016.9:g.85814934T>A

Select item 14904439717.

rs1490443971 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 16:85797948 (GRCh38)
16:85831554 (GRCh37)
Canonical SPDI:: NC_000016.10:85797947:T:G
Gene:: COX4I1 (Varview), EMC8 (Varview)
Functional Consequence:: 2KB_upstream_variant,5_prime_UTR_variant,intron_variant,upstream_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_000016.10:g.85797948T>G, NC_000016.9:g.85831554T>G, NG_042280.1:g.3382T>G, XM_017022867.2:c.-5259A>C

Select item 14902337678.

rs1490233767 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:85791019 (GRCh38)
16:85824625 (GRCh37)
Canonical SPDI:: NC_000016.10:85791018:G:C
Gene:: EMC8 (Varview), LOC101928557 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.85791019G>C, NC_000016.9:g.85824625G>C

Select item 14902034519.

rs1490203451 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:85781227 (GRCh38)
16:85814833 (GRCh37)
Canonical SPDI:: NC_000016.10:85781226:T:C
Gene:: EMC8 (Varview)
Functional Consequence:: coding_sequence_variant,3_prime_UTR_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000016.10:g.85781227T>C, NC_000016.9:g.85814833T>C, NM_006067.5:c.362A>G, NM_006067.4:c.362A>G, XM_011522813.4:c.*88A>G, XM_011522813.3:c.*88A>G, XM_011522813.2:c.*88A>G, XM_011522813.1:c.*88A>G, XR_001751817.3:n.857A>G, XR_001751817.2:n.868A>G, XR_001751817.1:n.1057A>G, XM_017022867.2:c.206A>G, XM_017022867.1:c.206A>G, NM_001142288.2:c.362A>G, NM_001142288.1:c.362A>G, NP_006058.1:p.Asp121Gly, XP_016878356.1:p.Asp69Gly, NP_001135760.1:p.Asp121Gly

Select item 149016483510.

rs1490164835 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 16:85785121 (GRCh38)
16:85818728 (GRCh37)
Canonical SPDI:: NC_000016.10:85785121:TTTTTTT:TTTTTTTT
Gene:: EMC8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTTTTT=0./0 (ALFA)
HGVS:: NC_000016.10:g.85785128dup, NC_000016.9:g.85818734dup

Select item 149001338211.

rs1490013382 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:85786195 (GRCh38)
16:85819801 (GRCh37)
Canonical SPDI:: NC_000016.10:85786194:G:A,NC_000016.10:85786194:G:C
Gene:: EMC8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.85786195G>A, NC_000016.10:g.85786195G>C, NC_000016.9:g.85819801G>A, NC_000016.9:g.85819801G>C

Select item 148997214812.

rs1489972148 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:85778334 (GRCh38)
16:85811940 (GRCh37)
Canonical SPDI:: NC_000016.10:85778333:G:C
Gene:: EMC8 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.85778334G>C, NC_000016.9:g.85811940G>C

Select item 148993889413.

rs1489938894 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 16:85783626 (GRCh38)
16:85817232 (GRCh37)
Canonical SPDI:: NC_000016.10:85783625:C:A,NC_000016.10:85783625:C:T
Gene:: EMC8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000016.10:g.85783626C>A, NC_000016.10:g.85783626C>T, NC_000016.9:g.85817232C>A, NC_000016.9:g.85817232C>T

Select item 148984904614.

rs1489849046 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:85792602 (GRCh38)
16:85826208 (GRCh37)
Canonical SPDI:: NC_000016.10:85792601:T:C
Gene:: EMC8 (Varview), LOC101928557 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.85792602T>C, NC_000016.9:g.85826208T>C, XM_017022867.2:c.-306A>G

Select item 148973939315.

rs1489739393 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:85793693 (GRCh38)
16:85827299 (GRCh37)
Canonical SPDI:: NC_000016.10:85793692:G:A
Gene:: EMC8 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.85793693G>A, NC_000016.9:g.85827299G>A, XM_017022867.2:c.-1004C>T

Select item 148972368016.

rs1489723680 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:85783082 (GRCh38)
16:85816688 (GRCh37)
Canonical SPDI:: NC_000016.10:85783081:C:G
Gene:: EMC8 (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_000016.10:g.85783082C>G, NC_000016.9:g.85816688C>G

Select item 148961961117.

rs1489619611 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 16:85790164 (GRCh38)
16:85823770 (GRCh37)
Canonical SPDI:: NC_000016.10:85790163:G:A,NC_000016.10:85790163:G:C,NC_000016.10:85790163:G:T
Gene:: EMC8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.85790164G>A, NC_000016.10:g.85790164G>C, NC_000016.10:g.85790164G>T, NC_000016.9:g.85823770G>A, NC_000016.9:g.85823770G>C, NC_000016.9:g.85823770G>T

Select item 148959345818.

rs1489593458 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:85787542 (GRCh38)
16:85821148 (GRCh37)
Canonical SPDI:: NC_000016.10:85787541:G:A
Gene:: EMC8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.85787542G>A, NC_000016.9:g.85821148G>A

Select item 148958412319.

rs1489584123 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:85785500 (GRCh38)
16:85819106 (GRCh37)
Canonical SPDI:: NC_000016.10:85785499:G:A
Gene:: EMC8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000016.10:g.85785500G>A, NC_000016.9:g.85819106G>A

Select item 148955417320.

rs1489554173 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:85784738 (GRCh38)
16:85818344 (GRCh37)
Canonical SPDI:: NC_000016.10:85784737:T:C
Gene:: EMC8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.85784738T>C, NC_000016.9:g.85818344T>C

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