SNP Links for Gene (Select 23539) - SNP

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Select item 14899229191.

rs1489922919 [Homo sapiens]

Variant type:: DEL
Alleles:: CTTT>- [Show Flanks]
Chromosome:: 22:38084914 (GRCh38)
22:38480921 (GRCh37)
Canonical SPDI:: NC_000022.11:38084913:CTTT:
Gene:: SLC16A8 (Varview), BAIAP2L2 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000142/2 (ALFA)
-=0.000053/7 (GnomAD)
-=0.000064/17 (TOPMED)
HGVS:: NC_000022.11:g.38084914_38084917del, NC_000022.10:g.38480921_38480924del, NG_033059.2:g.30753_30756del, NM_025045.6:c.*383_*386del, NM_025045.5:c.*383_*386del, NM_025045.4:c.*383_*386del, XM_005261751.5:c.*383_*386del, XM_005261751.4:c.*383_*386del, XM_005261751.3:c.*383_*386del, XM_005261751.2:c.*383_*386del, XM_005261751.1:c.*383_*386del, XM_011530379.4:c.*383_*386del, XM_011530379.3:c.*383_*386del, XM_011530379.2:c.*383_*386del, XM_011530379.1:c.*383_*386del, XM_011530380.4:c.*383_*386del, XM_011530380.3:c.*383_*386del, XM_011530380.2:c.*383_*386del, XM_011530380.1:c.*383_*386del, XM_011530387.4:c.*383_*386del, XM_011530387.3:c.*383_*386del, XM_011530387.2:c.*383_*386del, XM_011530387.1:c.*383_*386del, XM_011530382.3:c.*383_*386del, XM_011530382.2:c.*383_*386del, XM_011530382.1:c.*383_*386del, XM_011530383.3:c.*383_*386del, XM_011530383.2:c.*383_*386del, XM_011530383.1:c.*383_*386del, XM_011530386.3:c.*383_*386del, XM_011530386.2:c.*383_*386del, XM_011530386.1:c.*383_*386del, XM_011530384.3:c.*383_*386del, XM_011530384.2:c.*383_*386del, XM_011530384.1:c.*383_*386del, XM_011530381.3:c.*383_*386del, XM_011530381.2:c.*383_*386del, XM_011530381.1:c.*383_*386del, XM_011530388.3:c.*383_*386del, XM_011530388.2:c.*383_*386del, XM_011530388.1:c.*383_*386del

Select item 14897480212.

rs1489748021 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:38080515 (GRCh38)
22:38476522 (GRCh37)
Canonical SPDI:: NC_000022.11:38080514:G:A
Gene:: SLC16A8 (Varview), LOC105373027 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000034/9 (TOPMED)
HGVS:: NC_000022.11:g.38080515G>A, NC_000022.10:g.38476522G>A

Select item 14894340703.

rs1489434070 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 22:38083535 (GRCh38)
22:38479542 (GRCh37)
Canonical SPDI:: NC_000022.11:38083534:C:A,NC_000022.11:38083534:C:G
Gene:: SLC16A8 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.38083535C>A, NC_000022.11:g.38083535C>G, NC_000022.10:g.38479542C>A, NC_000022.10:g.38479542C>G, NG_033059.2:g.32135G>T, NG_033059.2:g.32135G>C

Select item 14890695934.

rs1489069593 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:38084212 (GRCh38)
22:38480219 (GRCh37)
Canonical SPDI:: NC_000022.11:38084211:G:A
Gene:: SLC16A8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000023/6 (TOPMED)
A=0.000043/6 (GnomAD)
HGVS:: NC_000022.11:g.38084212G>A, NC_000022.10:g.38480219G>A, NG_033059.2:g.31458C>T

Select item 14890446565.

rs1489044656 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:38082437 (GRCh38)
22:38478444 (GRCh37)
Canonical SPDI:: NC_000022.11:38082436:G:A
Gene:: SLC16A8 (Varview)
Functional Consequence:: intron_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_000022.11:g.38082437G>A, NC_000022.10:g.38478444G>A

Select item 14888379396.

rs1488837939 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 22:38080958 (GRCh38)
22:38476965 (GRCh37)
Canonical SPDI:: NC_000022.11:38080957:C:G,NC_000022.11:38080957:C:T
Gene:: SLC16A8 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000005/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.38080958C>G, NC_000022.11:g.38080958C>T, NC_000022.10:g.38476965C>G, NC_000022.10:g.38476965C>T, NM_013356.3:c.1080G>C, NM_013356.3:c.1080G>A, NM_013356.2:c.1080G>C, NM_013356.2:c.1080G>A, XM_017028685.2:c.1080G>C, XM_017028685.2:c.1080G>A, XM_017028685.1:c.1080G>C, XM_017028685.1:c.1080G>A

Select item 14884574297.

rs1488457429 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 22:38083455 (GRCh38)
22:38479462 (GRCh37)
Canonical SPDI:: NC_000022.11:38083454:A:G
Gene:: SLC16A8 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000022.11:g.38083455A>G, NC_000022.10:g.38479462A>G, NG_033059.2:g.32215T>C

Select item 14882316838.

rs1488231683 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:38081753 (GRCh38)
22:38477760 (GRCh37)
Canonical SPDI:: NC_000022.11:38081752:G:C
Gene:: SLC16A8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000066/1 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000022.11:g.38081753G>C, NC_000022.10:g.38477760G>C

Select item 14882050219.

rs1488205021 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 22:38078396 (GRCh38)
22:38474403 (GRCh37)
Canonical SPDI:: NC_000022.11:38078395:A:C
Gene:: SLC16A8 (Varview), LOC105373027 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.38078396A>C, NC_000022.10:g.38474403A>C, NM_013356.3:c.1507T>G, NM_013356.2:c.1507T>G, XM_017028685.2:c.1507T>G, XM_017028685.1:c.1507T>G, NM_001394131.1:c.229T>G, NP_037488.2:p.Ser503Ala, XP_016884174.1:p.Ser503Ala, NP_001381060.1:p.Ser77Ala

Select item 148814193610.

rs1488141936 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 22:38078961 (GRCh38)
22:38474968 (GRCh37)
Canonical SPDI:: NC_000022.11:38078960:T:A,NC_000022.11:38078960:T:C
Gene:: SLC16A8 (Varview), LOC105373027 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.38078961T>A, NC_000022.11:g.38078961T>C, NC_000022.10:g.38474968T>A, NC_000022.10:g.38474968T>C

Select item 148667999911.

rs1486679999 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 22:38081565 (GRCh38)
22:38477572 (GRCh37)
Canonical SPDI:: NC_000022.11:38081564:G:C
Gene:: SLC16A8 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000022.11:g.38081565G>C, NC_000022.10:g.38477572G>C, NM_013356.3:c.473C>G, NM_013356.2:c.473C>G, XM_017028685.2:c.473C>G, XM_017028685.1:c.473C>G, NP_037488.2:p.Ser158Cys, XP_016884174.1:p.Ser158Cys

Select item 148625182912.

rs1486251829 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:38077853 (GRCh38)
22:38473860 (GRCh37)
Canonical SPDI:: NC_000022.11:38077852:G:A,NC_000022.11:38077852:G:C
Gene:: SLC16A8 (Varview), LOC105373027 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000022.11:g.38077853G>A, NC_000022.11:g.38077853G>C, NC_000022.10:g.38473860G>A, NC_000022.10:g.38473860G>C

Select item 148605948713.

rs1486059487 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:38080020 (GRCh38)
22:38476027 (GRCh37)
Canonical SPDI:: NC_000022.11:38080019:G:A,NC_000022.11:38080019:G:C
Gene:: SLC16A8 (Varview), LOC105373027 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
A=0.000021/3 (GnomAD)
C=0.000106/2 (TOMMO)
HGVS:: NC_000022.11:g.38080020G>A, NC_000022.11:g.38080020G>C, NC_000022.10:g.38476027G>A, NC_000022.10:g.38476027G>C, XR_938249.3:n.595G>A, XR_938249.3:n.595G>C, XR_938249.2:n.595G>A, XR_938249.2:n.595G>C, XR_938249.1:n.595G>A, XR_938249.1:n.595G>C

Select item 148575895614.

rs1485758956 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:38077871 (GRCh38)
22:38473878 (GRCh37)
Canonical SPDI:: NC_000022.11:38077870:G:A,NC_000022.11:38077870:G:C
Gene:: SLC16A8 (Varview), LOC105373027 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
A=0.000106/2 (TOMMO)
HGVS:: NC_000022.11:g.38077871G>A, NC_000022.11:g.38077871G>C, NC_000022.10:g.38473878G>A, NC_000022.10:g.38473878G>C

Select item 148504148115.

rs1485041481 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:38081678 (GRCh38)
22:38477685 (GRCh37)
Canonical SPDI:: NC_000022.11:38081677:G:A
Gene:: SLC16A8 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
HGVS:: NC_000022.11:g.38081678G>A, NC_000022.10:g.38477685G>A, NM_013356.3:c.360C>T, NM_013356.2:c.360C>T, XM_017028685.2:c.360C>T, XM_017028685.1:c.360C>T

Select item 148472027916.

rs1484720279 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 22:38078042 (GRCh38)
22:38474049 (GRCh37)
Canonical SPDI:: NC_000022.11:38078041:A:
Gene:: SLC16A8 (Varview), LOC105373027 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.38078042del, NC_000022.10:g.38474049del

Select item 148471593617.

rs1484715936 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAGGG [Show Flanks]
Chromosome:: 22:38082036 (GRCh38)
22:38478044 (GRCh37)
Canonical SPDI:: NC_000022.11:38082036:GGGCAGGGCAGGG:GGGCAGGGCAGGGCAGGG
Gene:: SLC16A8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: GGGCA=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.38082040CAGGG[3], NC_000022.10:g.38478047CAGGG[3]

Select item 148406201118.

rs1484062011 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 22:38081347 (GRCh38)
22:38477354 (GRCh37)
Canonical SPDI:: NC_000022.11:38081346:C:A,NC_000022.11:38081346:C:T
Gene:: SLC16A8 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
A=0.00046/8 (TOMMO)
HGVS:: NC_000022.11:g.38081347C>A, NC_000022.11:g.38081347C>T, NC_000022.10:g.38477354C>A, NC_000022.10:g.38477354C>T, NM_013356.3:c.691G>T, NM_013356.3:c.691G>A, NM_013356.2:c.691G>T, NM_013356.2:c.691G>A, XM_017028685.2:c.691G>T, XM_017028685.2:c.691G>A, XM_017028685.1:c.691G>T, XM_017028685.1:c.691G>A, NP_037488.2:p.Glu231Ter, NP_037488.2:p.Glu231Lys, XP_016884174.1:p.Glu231Ter, XP_016884174.1:p.Glu231Lys

Select item 148358025519.

rs1483580255 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:38084977 (GRCh38)
22:38480984 (GRCh37)
Canonical SPDI:: NC_000022.11:38084976:C:G
Gene:: SLC16A8 (Varview), BAIAP2L2 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000015/2 (GnomAD)
HGVS:: NC_000022.11:g.38084977C>G, NC_000022.10:g.38480984C>G, NG_033059.2:g.30693G>C, NM_025045.6:c.*323G>C, NM_025045.5:c.*323G>C, NM_025045.4:c.*323G>C, XM_005261751.5:c.*323G>C, XM_005261751.4:c.*323G>C, XM_005261751.3:c.*323G>C, XM_005261751.2:c.*323G>C, XM_005261751.1:c.*323G>C, XM_011530379.4:c.*323G>C, XM_011530379.3:c.*323G>C, XM_011530379.2:c.*323G>C, XM_011530379.1:c.*323G>C, XM_011530380.4:c.*323G>C, XM_011530380.3:c.*323G>C, XM_011530380.2:c.*323G>C, XM_011530380.1:c.*323G>C, XM_011530387.4:c.*323G>C, XM_011530387.3:c.*323G>C, XM_011530387.2:c.*323G>C, XM_011530387.1:c.*323G>C, XM_011530382.3:c.*323G>C, XM_011530382.2:c.*323G>C, XM_011530382.1:c.*323G>C, XM_011530383.3:c.*323G>C, XM_011530383.2:c.*323G>C, XM_011530383.1:c.*323G>C, XM_011530386.3:c.*323G>C, XM_011530386.2:c.*323G>C, XM_011530386.1:c.*323G>C, XM_011530384.3:c.*323G>C, XM_011530384.2:c.*323G>C, XM_011530384.1:c.*323G>C, XM_011530381.3:c.*323G>C, XM_011530381.2:c.*323G>C, XM_011530381.1:c.*323G>C, XM_011530388.3:c.*323G>C, XM_011530388.2:c.*323G>C, XM_011530388.1:c.*323G>C

Select item 148310306020.

rs1483103060 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:38084547 (GRCh38)
22:38480554 (GRCh37)
Canonical SPDI:: NC_000022.11:38084546:G:T
Gene:: SLC16A8 (Varview), BAIAP2L2 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.38084547G>T, NC_000022.10:g.38480554G>T, NG_033059.2:g.31123C>A

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