SNP Links for Gene (Select 9120) - SNP

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Select item 14914817851.

rs1491481785 has merged into rs56870988 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:68278625 (GRCh38)
17:66274766 (GRCh37)
Canonical SPDI:: NC_000017.11:68278617:TTTTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000017.11:68278617:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000017.11:68278617:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:68278617:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:68278617:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:68278617:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:68278617:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:68278617:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:68278617:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:68278617:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:68278617:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68278617:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68278617:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68278617:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68278617:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:68278617:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SLC16A6 (Varview), ARSG (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.68278625_68278637del, NC_000017.11:g.68278626_68278637del, NC_000017.11:g.68278629_68278637del, NC_000017.11:g.68278630_68278637del, NC_000017.11:g.68278631_68278637del, NC_000017.11:g.68278632_68278637del, NC_000017.11:g.68278634_68278637del, NC_000017.11:g.68278635_68278637del, NC_000017.11:g.68278636_68278637del, NC_000017.11:g.68278637del, NC_000017.11:g.68278637dup, NC_000017.11:g.68278636_68278637dup, NC_000017.11:g.68278635_68278637dup, NC_000017.11:g.68278634_68278637dup, NC_000017.11:g.68278633_68278637dup, NC_000017.11:g.68278632_68278637dup, NC_000017.10:g.66274766_66274778del, NC_000017.10:g.66274767_66274778del, NC_000017.10:g.66274770_66274778del, NC_000017.10:g.66274771_66274778del, NC_000017.10:g.66274772_66274778del, NC_000017.10:g.66274773_66274778del, NC_000017.10:g.66274775_66274778del, NC_000017.10:g.66274776_66274778del, NC_000017.10:g.66274777_66274778del, NC_000017.10:g.66274778del, NC_000017.10:g.66274778dup, NC_000017.10:g.66274777_66274778dup, NC_000017.10:g.66274776_66274778dup, NC_000017.10:g.66274775_66274778dup, NC_000017.10:g.66274774_66274778dup, NC_000017.10:g.66274773_66274778dup, NG_032814.2:g.24537_24549del, NG_032814.2:g.24538_24549del, NG_032814.2:g.24541_24549del, NG_032814.2:g.24542_24549del, NG_032814.2:g.24543_24549del, NG_032814.2:g.24544_24549del, NG_032814.2:g.24546_24549del, NG_032814.2:g.24547_24549del, NG_032814.2:g.24548_24549del, NG_032814.2:g.24549del, NG_032814.2:g.24549dup, NG_032814.2:g.24548_24549dup, NG_032814.2:g.24547_24549dup, NG_032814.2:g.24546_24549dup, NG_032814.2:g.24545_24549dup, NG_032814.2:g.24544_24549dup, NW_003871088.1:g.338636_338648del, NW_003871088.1:g.338637_338648del, NW_003871088.1:g.338640_338648del, NW_003871088.1:g.338641_338648del, NW_003871088.1:g.338642_338648del, NW_003871088.1:g.338643_338648del, NW_003871088.1:g.338645_338648del, NW_003871088.1:g.338646_338648del, NW_003871088.1:g.338647_338648del, NW_003871088.1:g.338648del, NW_003871088.1:g.338648dup, NW_003871088.1:g.338647_338648dup, NW_003871088.1:g.338646_338648dup, NW_003871088.1:g.338645_338648dup, NW_003871088.1:g.338644_338648dup, NW_003871088.1:g.338643_338648dup

Select item 14914159932.

rs1491415993 has merged into rs58937538 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAATTATTTATATATTACCCAAAGCAAACAAAAGAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:68280191 (GRCh38)
17:66276332 (GRCh37)
Canonical SPDI:: NC_000017.11:68280179:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:68280179:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:68280179:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:68280179:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:68280179:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:68280179:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000017.11:68280179:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:68280179:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:68280179:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:68280179:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:68280179:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:68280179:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:68280179:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:68280179:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:68280179:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:68280179:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:68280179:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:68280179:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:68280179:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:68280179:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAATTATTTATATATTACCCAAAGCAAACAAAAGAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SLC16A6 (Varview), ARSG (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.2887/1446 (1000Genomes)
HGVS:: NC_000017.11:g.68280191_68280200del, NC_000017.11:g.68280195_68280200del, NC_000017.11:g.68280196_68280200del, NC_000017.11:g.68280197_68280200del, NC_000017.11:g.68280198_68280200del, NC_000017.11:g.68280199_68280200del, NC_000017.11:g.68280200del, NC_000017.11:g.68280200dup, NC_000017.11:g.68280199_68280200dup, NC_000017.11:g.68280198_68280200dup, NC_000017.11:g.68280197_68280200dup, NC_000017.11:g.68280196_68280200dup, NC_000017.11:g.68280195_68280200dup, NC_000017.11:g.68280194_68280200dup, NC_000017.11:g.68280193_68280200dup, NC_000017.11:g.68280185_68280200dup, NC_000017.11:g.68280184_68280200dup, NC_000017.11:g.68280200_68280201insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.68280200_68280201insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.11:g.68280180_68280200A[25]TTAT[2]AT[2]TACCCAAAGCAAACAAAAGAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000017.10:g.66276332_66276341del, NC_000017.10:g.66276336_66276341del, NC_000017.10:g.66276337_66276341del, NC_000017.10:g.66276338_66276341del, NC_000017.10:g.66276339_66276341del, NC_000017.10:g.66276340_66276341del, NC_000017.10:g.66276341del, NC_000017.10:g.66276341dup, NC_000017.10:g.66276340_66276341dup, NC_000017.10:g.66276339_66276341dup, NC_000017.10:g.66276338_66276341dup, NC_000017.10:g.66276337_66276341dup, NC_000017.10:g.66276336_66276341dup, NC_000017.10:g.66276335_66276341dup, NC_000017.10:g.66276334_66276341dup, NC_000017.10:g.66276326_66276341dup, NC_000017.10:g.66276325_66276341dup, NC_000017.10:g.66276341_66276342insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.66276341_66276342insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000017.10:g.66276321_66276341A[25]TTAT[2]AT[2]TACCCAAAGCAAACAAAAGAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_032814.2:g.26103_26112del, NG_032814.2:g.26107_26112del, NG_032814.2:g.26108_26112del, NG_032814.2:g.26109_26112del, NG_032814.2:g.26110_26112del, NG_032814.2:g.26111_26112del, NG_032814.2:g.26112del, NG_032814.2:g.26112dup, NG_032814.2:g.26111_26112dup, NG_032814.2:g.26110_26112dup, NG_032814.2:g.26109_26112dup, NG_032814.2:g.26108_26112dup, NG_032814.2:g.26107_26112dup, NG_032814.2:g.26106_26112dup, NG_032814.2:g.26105_26112dup, NG_032814.2:g.26097_26112dup, NG_032814.2:g.26096_26112dup, NG_032814.2:g.26112_26113insAAAAAAAAAAAAAAAAAAAAAAAA, NG_032814.2:g.26112_26113insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_032814.2:g.26092_26112A[25]TTAT[2]AT[2]TACCCAAAGCAAACAAAAGAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NW_003871088.1:g.340202_340211del, NW_003871088.1:g.340206_340211del, NW_003871088.1:g.340207_340211del, NW_003871088.1:g.340208_340211del, NW_003871088.1:g.340209_340211del, NW_003871088.1:g.340210_340211del, NW_003871088.1:g.340211del, NW_003871088.1:g.340211dup, NW_003871088.1:g.340210_340211dup, NW_003871088.1:g.340209_340211dup, NW_003871088.1:g.340208_340211dup, NW_003871088.1:g.340207_340211dup, NW_003871088.1:g.340206_340211dup, NW_003871088.1:g.340205_340211dup, NW_003871088.1:g.340204_340211dup, NW_003871088.1:g.340196_340211dup, NW_003871088.1:g.340195_340211dup, NW_003871088.1:g.340211_340212insAAAAAAAAAAAAAAAAAAAAAAAA, NW_003871088.1:g.340211_340212insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NW_003871088.1:g.340191_340211A[25]TTAT[2]AT[2]TACCCAAAGCAAACAAAAGAAAGGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14913577493.

rs1491357749 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 17:68280179 (GRCh38)
17:66276320 (GRCh37)
Canonical SPDI:: NC_000017.11:68280178:CA:
Gene:: SLC16A6 (Varview), ARSG (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00051/6 (ALFA)
HGVS:: NC_000017.11:g.68280179_68280180del, NC_000017.10:g.66276320_66276321del, NG_032814.2:g.26091_26092del, NW_003871088.1:g.340190_340191del

Select item 14910910334.

rs1491091033 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 17:68278617 (GRCh38)
17:66274758 (GRCh37)
Canonical SPDI:: NC_000017.11:68278616:CT:
Gene:: SLC16A6 (Varview), ARSG (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000169/2 (ALFA)
-=0.00005/6 (GnomAD)
HGVS:: NC_000017.11:g.68278617_68278618del, NC_000017.10:g.66274758_66274759del, NG_032814.2:g.24529_24530del, NW_003871088.1:g.338628_338629del

Select item 14909247605.

rs1490924760 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:68266865 (GRCh38)
17:66263006 (GRCh37)
Canonical SPDI:: NC_000017.11:68266864:G:A
Gene:: SLC16A6 (Varview), ARSG (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.68266865G>A, NC_000017.10:g.66263006G>A, NG_032814.2:g.12777G>A, NW_003871088.1:g.326876G>A

Select item 14909021726.

rs1490902172 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:68282143 (GRCh38)
17:66278284 (GRCh37)
Canonical SPDI:: NC_000017.11:68282142:C:A
Gene:: SLC16A6 (Varview), ARSG (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,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_000017.11:g.68282143C>A, NC_000017.10:g.66278284C>A, NG_032814.2:g.28055C>A, NW_003871088.1:g.342154C>A

Select item 14908715887.

rs1490871588 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 17:68282880 (GRCh38)
17:66279021 (GRCh37)
Canonical SPDI:: NC_000017.11:68282879:G:T
Gene:: SLC16A6 (Varview), ARSG (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.68282880G>T, NC_000017.10:g.66279021G>T, NG_032814.2:g.28792G>T, NW_003871088.1:g.342891G>T

Select item 14906233468.

rs1490623346 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:68289472 (GRCh38)
17:66285613 (GRCh37)
Canonical SPDI:: NC_000017.11:68289471:G:C
Gene:: SLC16A6 (Varview), ARSG (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.68289472G>C, NC_000017.10:g.66285613G>C, NG_032814.2:g.35384G>C, NW_003871088.1:g.349483G>C

Select item 14905974389.

rs1490597438 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:68290679 (GRCh38)
17:66286820 (GRCh37)
Canonical SPDI:: NC_000017.11:68290678:T:C
Gene:: SLC16A6 (Varview), ARSG (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_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_000017.11:g.68290679T>C, NC_000017.10:g.66286820T>C, NG_032814.2:g.36591T>C, NW_003871088.1:g.350690T>C

Select item 149043316910.

rs1490433169 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:68267426 (GRCh38)
17:66263567 (GRCh37)
Canonical SPDI:: NC_000017.11:68267425:G:C
Gene:: SLC16A6 (Varview), ARSG (Varview)
Functional Consequence:: genic_upstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.68267426G>C, NC_000017.10:g.66263567G>C, NG_032814.2:g.13338G>C, NW_003871088.1:g.327437G>C, NM_004694.5:c.*1670C>G, NM_004694.4:c.*1670C>G, XM_011525461.4:c.*1670C>G, XM_011525461.3:c.*1670C>G, XM_011525461.2:c.*1670C>G, XM_011525461.1:c.*1670C>G, XM_017025292.3:c.*1670C>G, XM_017025292.2:c.*1670C>G, XM_017025292.1:c.*1670C>G, NM_001174166.2:c.*1670C>G, NM_001174166.1:c.*1670C>G, XM_024451021.2:c.*1670C>G, XM_024451021.1:c.*1670C>G, XM_047437020.1:c.*1670C>G

Select item 149041285711.

rs1490412857 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:68282540 (GRCh38)
17:66278681 (GRCh37)
Canonical SPDI:: NC_000017.11:68282539:T:C
Gene:: SLC16A6 (Varview), ARSG (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_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_000017.11:g.68282540T>C, NC_000017.10:g.66278681T>C, NG_032814.2:g.28452T>C, NW_003871088.1:g.342551T>C

Select item 149040313912.

rs1490403139 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 17:68268525 (GRCh38)
17:66264666 (GRCh37)
Canonical SPDI:: NC_000017.11:68268524:GGG:GG
Gene:: SLC16A6 (Varview), ARSG (Varview)
Functional Consequence:: genic_upstream_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.68268527del, NC_000017.10:g.66264668del, NG_032814.2:g.14439del, NW_003871088.1:g.328538del, NM_004694.5:c.*571del, NM_004694.4:c.*571del, XM_011525461.4:c.*571del, XM_011525461.3:c.*571del, XM_011525461.2:c.*571del, XM_011525461.1:c.*571del, XM_017025292.3:c.*571del, XM_017025292.2:c.*571del, XM_017025292.1:c.*571del, NM_001174166.2:c.*571del, NM_001174166.1:c.*571del, XM_024451021.2:c.*571del, XM_024451021.1:c.*571del, XM_047437020.1:c.*571del

Select item 149026843713.

rs1490268437 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 17:68289559 (GRCh38)
17:66285700 (GRCh37)
Canonical SPDI:: NC_000017.11:68289558:C:G,NC_000017.11:68289558:C:T
Gene:: SLC16A6 (Varview), ARSG (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.68289559C>G, NC_000017.11:g.68289559C>T, NC_000017.10:g.66285700C>G, NC_000017.10:g.66285700C>T, NG_032814.2:g.35471C>G, NG_032814.2:g.35471C>T, NW_003871088.1:g.349570C>G, NW_003871088.1:g.349570C>T

Select item 149009455214.

rs1490094552 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 17:68281586 (GRCh38)
17:66277727 (GRCh37)
Canonical SPDI:: NC_000017.11:68281585:AAA:AA
Gene:: SLC16A6 (Varview), ARSG (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.68281588del, NC_000017.10:g.66277729del, NG_032814.2:g.27500del, NW_003871088.1:g.341599del

Select item 149007872715.

rs1490078727 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:68282685 (GRCh38)
17:66278826 (GRCh37)
Canonical SPDI:: NC_000017.11:68282684:T:C
Gene:: SLC16A6 (Varview), ARSG (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000017.11:g.68282685T>C, NC_000017.10:g.66278826T>C, NG_032814.2:g.28597T>C, NW_003871088.1:g.342696T>C

Select item 148987415616.

rs1489874156 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:68273784 (GRCh38)
17:66269925 (GRCh37)
Canonical SPDI:: NC_000017.11:68273783:A:G
Gene:: SLC16A6 (Varview), ARSG (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.68273784A>G, NC_000017.10:g.66269925A>G, NG_032814.2:g.19696A>G, NW_003871088.1:g.333795A>G

Select item 148985838517.

rs1489858385 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:68274786 (GRCh38)
17:66270927 (GRCh37)
Canonical SPDI:: NC_000017.11:68274785:T:C
Gene:: SLC16A6 (Varview), ARSG (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.013514/2 (GnomAD)
HGVS:: NC_000017.11:g.68274786T>C, NC_000017.10:g.66270927T>C, NG_032814.2:g.20698T>C, NW_003871088.1:g.334797T>C

Select item 148980438518.

rs1489804385 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:68289055 (GRCh38)
17:66285196 (GRCh37)
Canonical SPDI:: NC_000017.11:68289054:A:G
Gene:: SLC16A6 (Varview), ARSG (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.68289055A>G, NC_000017.10:g.66285196A>G, NG_032814.2:g.34967A>G, NW_003871088.1:g.349066A>G

Select item 148976327519.

rs1489763275 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 17:68290149 (GRCh38)
17:66286290 (GRCh37)
Canonical SPDI:: NC_000017.11:68290148:A:G,NC_000017.11:68290148:A:T
Gene:: SLC16A6 (Varview), ARSG (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000017.11:g.68290149A>G, NC_000017.11:g.68290149A>T, NC_000017.10:g.66286290A>G, NC_000017.10:g.66286290A>T, NG_032814.2:g.36061A>G, NG_032814.2:g.36061A>T, NW_003871088.1:g.350160A>G, NW_003871088.1:g.350160A>T

Select item 148973517320.

rs1489735173 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 17:68280201 (GRCh38)
17:66276342 (GRCh37)
Canonical SPDI:: NC_000017.11:68280199:AGA:A
Gene:: SLC16A6 (Varview), ARSG (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000253/3 (ALFA)
-=0.00016/22 (GnomAD)
HGVS:: NC_000017.11:g.68280201_68280202del, NC_000017.10:g.66276342_66276343del, NG_032814.2:g.26113_26114del, NW_003871088.1:g.340212_340213del

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