SNP Links for Gene (Select 201232) - SNP

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Select item 14915003831.

rs1491500383 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,G,T [Show Flanks]
Chromosome:: 17:7040422 (GRCh38)
17:6943742 (GRCh37)
Canonical SPDI:: NC_000017.11:7040422::A,NC_000017.11:7040422::G,NC_000017.11:7040422::T
Gene:: SLC16A13 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.7040422_7040423insA, NC_000017.11:g.7040422_7040423insG, NC_000017.11:g.7040422_7040423insT, NC_000017.10:g.6943741_6943742insA, NC_000017.10:g.6943741_6943742insG, NC_000017.10:g.6943741_6943742insT

Select item 14913397342.

rs1491339734 has merged into rs1218569960 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCC>-,C,CC,CCC,CCCCC,CCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCC [Show Flanks]
Chromosome:: 17:7040431 (GRCh38)
17:6943750 (GRCh37)
Canonical SPDI:: NC_000017.11:7040421:CCCCCCCCCCCCC:CCCCCCCCC,NC_000017.11:7040421:CCCCCCCCCCCCC:CCCCCCCCCC,NC_000017.11:7040421:CCCCCCCCCCCCC:CCCCCCCCCCC,NC_000017.11:7040421:CCCCCCCCCCCCC:CCCCCCCCCCCC,NC_000017.11:7040421:CCCCCCCCCCCCC:CCCCCCCCCCCCCC,NC_000017.11:7040421:CCCCCCCCCCCCC:CCCCCCCCCCCCCCC,NC_000017.11:7040421:CCCCCCCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC
Gene:: SLC16A13 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCC=0./0 (ALFA)
HGVS:: NC_000017.11:g.7040431_7040434del, NC_000017.11:g.7040432_7040434del, NC_000017.11:g.7040433_7040434del, NC_000017.11:g.7040434del, NC_000017.11:g.7040434dup, NC_000017.11:g.7040433_7040434dup, NC_000017.11:g.7040434_7040435insCCCCCCCCCCCCCCCCCCCCC, NC_000017.10:g.6943750_6943753del, NC_000017.10:g.6943751_6943753del, NC_000017.10:g.6943752_6943753del, NC_000017.10:g.6943753del, NC_000017.10:g.6943753dup, NC_000017.10:g.6943752_6943753dup, NC_000017.10:g.6943753_6943754insCCCCCCCCCCCCCCCCCCCCC

Select item 14912440123.

rs1491244012 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:7037341 (GRCh38)
17:6940660 (GRCh37)
Canonical SPDI:: NC_000017.11:7037340:CA:
Gene:: SLC16A13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000017.11:g.7037341_7037342del, NC_000017.10:g.6940660_6940661del

Select item 14910994014.

rs1491099401 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAAAAAAAA,GAAAAAAAA [Show Flanks]
Chromosome:: 17:7037341 (GRCh38)
17:6940661 (GRCh37)
Canonical SPDI:: NC_000017.11:7037341:A:ACAAAAAAAA,NC_000017.11:7037341:A:AGAAAAAAAA
Gene:: SLC16A13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAAAAAAAA=0./0 (ALFA)
AGAAAAAAA=0.000004/1 (TOPMED)
AGAAAAAAA=0.000025/1 (GnomAD)
HGVS:: NC_000017.11:g.7037342_7037343insCAAAAAAAA, NC_000017.11:g.7037342_7037343insGAAAAAAAA, NC_000017.10:g.6940661_6940662insCAAAAAAAA, NC_000017.10:g.6940661_6940662insGAAAAAAAA

Select item 14902697015.

rs1490269701 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:7039199 (GRCh38)
17:6942518 (GRCh37)
Canonical SPDI:: NC_000017.11:7039198:T:C
Gene:: SLC16A13 (Varview)
Functional Consequence:: 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_000017.11:g.7039199T>C, NC_000017.10:g.6942518T>C

Select item 14896545236.

rs1489654523 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:7038681 (GRCh38)
17:6942000 (GRCh37)
Canonical SPDI:: NC_000017.11:7038680:T:C
Gene:: SLC16A13 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.7038681T>C, NC_000017.10:g.6942000T>C, NM_201566.3:c.873T>C, NM_201566.2:c.873T>C

Select item 14886383697.

rs1488638369 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:7036613 (GRCh38)
17:6939932 (GRCh37)
Canonical SPDI:: NC_000017.11:7036612:G:C
Gene:: SLC16A13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.7036613G>C, NC_000017.10:g.6939932G>C

Select item 14879616048.

rs1487961604 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>- [Show Flanks]
Chromosome:: 17:7040421 (GRCh38)
17:6943740 (GRCh37)
Canonical SPDI:: NC_000017.11:7040419:CAC:C
Gene:: SLC16A13 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.0027/32 (ALFA)
-=0.00064/4 (TOMMO)
-=0.00389/42 (GnomAD)
HGVS:: NC_000017.11:g.7040421_7040422del, NC_000017.10:g.6943740_6943741del

Select item 14873006999.

rs1487300699 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:7036839 (GRCh38)
17:6940158 (GRCh37)
Canonical SPDI:: NC_000017.11:7036838:C:G,NC_000017.11:7036838:C:T
Gene:: SLC16A13 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000028/1 (ALFA)
T=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.7036839C>G, NC_000017.11:g.7036839C>T, NC_000017.10:g.6940158C>G, NC_000017.10:g.6940158C>T, NM_201566.3:c.312C>G, NM_201566.3:c.312C>T, NM_201566.2:c.312C>G, NM_201566.2:c.312C>T

Select item 148684820710.

rs1486848207 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:7038490 (GRCh38)
17:6941809 (GRCh37)
Canonical SPDI:: NC_000017.11:7038489:A:T
Gene:: SLC16A13 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.7038490A>T, NC_000017.10:g.6941809A>T, NM_201566.3:c.682A>T, NM_201566.2:c.682A>T, NP_963860.1:p.Thr228Ser

Select item 148614200211.

rs1486142002 [Homo sapiens]

Variant type:: DEL
Alleles:: TAAATAAATAAATAAATAAAT>- [Show Flanks]
Chromosome:: 17:7034778 (GRCh38)
17:6938097 (GRCh37)
Canonical SPDI:: NC_000017.11:7034777:TAAATAAATAAATAAATAAAT:
Gene:: SLC16A13 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000158/1 (GnomAD)
HGVS:: NC_000017.11:g.7034778_7034798del, NC_000017.10:g.6938097_6938117del

Select item 148608585112.

rs1486085851 [Homo sapiens]

Variant type:: SNV:
Alleles:: T>A
Chromosome:: no mapping
Canonical SPDI:

Select item 148600809213.

rs1486008092 has merged into rs57010713 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:7037352 (GRCh38)
17:6940671 (GRCh37)
Canonical SPDI:: NC_000017.11:7037341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000017.11:7037341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000017.11:7037341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:7037341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:7037341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:7037341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:7037341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:7037341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:7037341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:7037341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:7037341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:7037341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:7037341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:7037341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:7037341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:7037341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:7037341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:7037341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:7037341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:7037341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:7037341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:7037341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:7037341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:7037341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:7037341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:7037341:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SLC16A13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.7037352_7037359del, NC_000017.11:g.7037355_7037359del, NC_000017.11:g.7037356_7037359del, NC_000017.11:g.7037357_7037359del, NC_000017.11:g.7037358_7037359del, NC_000017.11:g.7037359del, NC_000017.11:g.7037359dup, NC_000017.11:g.7037358_7037359dup, NC_000017.11:g.7037357_7037359dup, NC_000017.11:g.7037356_7037359dup, NC_000017.11:g.7037355_7037359dup, NC_000017.11:g.7037354_7037359dup, NC_000017.11:g.7037353_7037359dup, NC_000017.11:g.7037352_7037359dup, NC_000017.11:g.7037351_7037359dup, NC_000017.11:g.7037350_7037359dup, NC_000017.11:g.7037349_7037359dup, NC_000017.11:g.7037348_7037359dup, NC_000017.11:g.7037347_7037359dup, NC_000017.11:g.7037346_7037359dup, NC_000017.11:g.7037345_7037359dup, NC_000017.11:g.7037344_7037359dup, NC_000017.11:g.7037343_7037359dup, NC_000017.11:g.7037342_7037359dup, NC_000017.11:g.7037359_7037360insAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.7037359_7037360insAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.6940671_6940678del, NC_000017.10:g.6940674_6940678del, NC_000017.10:g.6940675_6940678del, NC_000017.10:g.6940676_6940678del, NC_000017.10:g.6940677_6940678del, NC_000017.10:g.6940678del, NC_000017.10:g.6940678dup, NC_000017.10:g.6940677_6940678dup, NC_000017.10:g.6940676_6940678dup, NC_000017.10:g.6940675_6940678dup, NC_000017.10:g.6940674_6940678dup, NC_000017.10:g.6940673_6940678dup, NC_000017.10:g.6940672_6940678dup, NC_000017.10:g.6940671_6940678dup, NC_000017.10:g.6940670_6940678dup, NC_000017.10:g.6940669_6940678dup, NC_000017.10:g.6940668_6940678dup, NC_000017.10:g.6940667_6940678dup, NC_000017.10:g.6940666_6940678dup, NC_000017.10:g.6940665_6940678dup, NC_000017.10:g.6940664_6940678dup, NC_000017.10:g.6940663_6940678dup, NC_000017.10:g.6940662_6940678dup, NC_000017.10:g.6940661_6940678dup, NC_000017.10:g.6940678_6940679insAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.6940678_6940679insAAAAAAAAAAAAAAAAAAAAA

Select item 148583169114.

rs1485831691 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:7035972 (GRCh38)
17:6939291 (GRCh37)
Canonical SPDI:: NC_000017.11:7035971:G:A,NC_000017.11:7035971:G:T
Gene:: SLC16A13 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.7035972G>A, NC_000017.11:g.7035972G>T, NC_000017.10:g.6939291G>A, NC_000017.10:g.6939291G>T

Select item 148579066015.

rs1485790660 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:7036634 (GRCh38)
17:6939953 (GRCh37)
Canonical SPDI:: NC_000017.11:7036633:A:G
Gene:: SLC16A13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.7036634A>G, NC_000017.10:g.6939953A>G

Select item 148515916316.

rs1485159163 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:7037337 (GRCh38)
17:6940656 (GRCh37)
Canonical SPDI:: NC_000017.11:7037336:G:T
Gene:: SLC16A13 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: T=0.00137/15 (TOMMO)
HGVS:: NC_000017.11:g.7037337G>T, NC_000017.10:g.6940656G>T

Select item 148450486517.

rs1484504865 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:7040021 (GRCh38)
17:6943340 (GRCh37)
Canonical SPDI:: NC_000017.11:7040020:A:T
Gene:: SLC16A13 (Varview)
Functional Consequence:: 3_prime_UTR_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_000017.11:g.7040021A>T, NC_000017.10:g.6943340A>T, NM_201566.3:c.*59A>T, NM_201566.2:c.*59A>T

Select item 148427203818.

rs1484272038 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 17:7040360 (GRCh38)
17:6943679 (GRCh37)
Canonical SPDI:: NC_000017.11:7040359:GG:
Gene:: SLC16A13 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00291/13 (ALFA)
-=0.00072/11 (TOMMO)
-=0.0029/13 (Estonian)
-=0.00492/9 (Korea1K)
HGVS:: NC_000017.11:g.7040360_7040361del, NC_000017.10:g.6943679_6943680del

Select item 148410513719.

rs1484105137 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:7036672 (GRCh38)
17:6939991 (GRCh37)
Canonical SPDI:: NC_000017.11:7036671:A:G
Gene:: SLC16A13 (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)
G=0.000342/1 (KOREAN)
G=0.000546/1 (Korea1K)
HGVS:: NC_000017.11:g.7036672A>G, NC_000017.10:g.6939991A>G

Select item 148365096620.

rs1483650966 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:7035890 (GRCh38)
17:6939210 (GRCh37)
Canonical SPDI:: NC_000017.11:7035890:CCCC:CCCCC
Gene:: SLC16A13 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0./0 (ALFA)
C=0.000026/7 (TOPMED)
C=0.000029/4 (GnomAD)
HGVS:: NC_000017.11:g.7035894dup, NC_000017.10:g.6939213dup

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