SNP Links for Gene (Select 10786) - SNP

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Select item 14913452311.

rs1491345231 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 6:25856846 (GRCh38)
6:25857074 (GRCh37)
Canonical SPDI:: NC_000006.12:25856845:CA:
Gene:: SLC17A3 (Varview), LOC124901285 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00506/60 (ALFA)
HGVS:: NC_000006.12:g.25856846_25856847del, NC_000006.11:g.25857074_25857075del, NG_032922.1:g.22397_22398del

Select item 14911921402.

rs1491192140 has merged into rs70977234 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 6:25856861 (GRCh38)
6:25857089 (GRCh37)
Canonical SPDI:: NC_000006.12:25856846:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:25856846:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:25856846:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:25856846:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:25856846:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:25856846:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000006.12:25856846:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: SLC17A3 (Varview), LOC124901285 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.1625/91 (NorthernSweden)
-=0.2242/1123 (1000Genomes)
-=0.325/13 (GENOME_DK)
HGVS:: NC_000006.12:g.25856861_25856865del, NC_000006.12:g.25856863_25856865del, NC_000006.12:g.25856864_25856865del, NC_000006.12:g.25856865del, NC_000006.12:g.25856865dup, NC_000006.12:g.25856864_25856865dup, NC_000006.12:g.25856863_25856865dup, NC_000006.11:g.25857089_25857093del, NC_000006.11:g.25857091_25857093del, NC_000006.11:g.25857092_25857093del, NC_000006.11:g.25857093del, NC_000006.11:g.25857093dup, NC_000006.11:g.25857092_25857093dup, NC_000006.11:g.25857091_25857093dup, NG_032922.1:g.22393_22397del, NG_032922.1:g.22395_22397del, NG_032922.1:g.22396_22397del, NG_032922.1:g.22397del, NG_032922.1:g.22397dup, NG_032922.1:g.22396_22397dup, NG_032922.1:g.22395_22397dup

Select item 14911216343.

rs1491121634 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 6:25857282 (GRCh38)
6:25857510 (GRCh37)
Canonical SPDI:: NC_000006.12:25857280:TAT:T
Gene:: SLC17A3 (Varview), LOC124901285 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000029/4 (GnomAD)
HGVS:: NC_000006.12:g.25857282_25857283del, NC_000006.11:g.25857510_25857511del, NG_032922.1:g.21962_21963del

Select item 14910789204.

rs1491078920 has merged into rs3215770 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 6:25845213 (GRCh38)
6:25845441 (GRCh37)
Canonical SPDI:: NC_000006.12:25845204:AAAAAAAAAA:AAAAAAAA,NC_000006.12:25845204:AAAAAAAAAA:AAAAAAAAA,NC_000006.12:25845204:AAAAAAAAAA:AAAAAAAAAAA
Gene:: SLC17A3 (Varview), LOC124901285 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
A=0.138646/254 (Korea1K)
A=0.152665/2559 (TOMMO)
A=0.319048/67 (Vietnamese)
A=0.331101/87639 (TOPMED)
A=0.338262/1693 (1000Genomes)
A=0.446667/268 (NorthernSweden)
A=0.45/18 (GENOME_DK)
A=0.452535/1678 (TWINSUK)
A=0.462117/1781 (ALSPAC)
A=0.466964/2092 (Estonian)
A=0.478958/478 (GoNL)
HGVS:: NC_000006.12:g.25845213_25845214del, NC_000006.12:g.25845214del, NC_000006.12:g.25845214dup, NC_000006.11:g.25845441_25845442del, NC_000006.11:g.25845442del, NC_000006.11:g.25845442dup, NG_032922.1:g.34038_34039del, NG_032922.1:g.34039del, NG_032922.1:g.34039dup, NM_006632.4:c.*95_*96del, NM_006632.4:c.*96del, NM_006632.4:c.*96dup, NM_006632.3:c.*95_*96del, NM_006632.3:c.*96del, NM_006632.3:c.*96dup, NM_001098486.2:c.*95_*96del, NM_001098486.2:c.*96del, NM_001098486.2:c.*96dup, NM_001098486.1:c.*95_*96del, NM_001098486.1:c.*96del, NM_001098486.1:c.*96dup

Select item 14910441375.

rs1491044137 has merged into rs35631811 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 6:25872342 (GRCh38)
6:25872570 (GRCh37)
Canonical SPDI:: NC_000006.12:25872329:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000006.12:25872329:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:25872329:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:25872329:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000006.12:25872329:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:25872329:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000006.12:25872329:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000006.12:25872329:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA
Gene:: SLC17A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.1388/695 (1000Genomes)
HGVS:: NC_000006.12:g.25872342_25872346del, NC_000006.12:g.25872344_25872346del, NC_000006.12:g.25872345_25872346del, NC_000006.12:g.25872346del, NC_000006.12:g.25872346dup, NC_000006.12:g.25872345_25872346dup, NC_000006.12:g.25872344_25872346dup, NC_000006.12:g.25872343_25872346dup, NC_000006.11:g.25872570_25872574del, NC_000006.11:g.25872572_25872574del, NC_000006.11:g.25872573_25872574del, NC_000006.11:g.25872574del, NC_000006.11:g.25872574dup, NC_000006.11:g.25872573_25872574dup, NC_000006.11:g.25872572_25872574dup, NC_000006.11:g.25872571_25872574dup, NG_032922.1:g.6910_6914del, NG_032922.1:g.6912_6914del, NG_032922.1:g.6913_6914del, NG_032922.1:g.6914del, NG_032922.1:g.6914dup, NG_032922.1:g.6913_6914dup, NG_032922.1:g.6912_6914dup, NG_032922.1:g.6911_6914dup

Select item 14907145286.

rs1490714528 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:25875246 (GRCh38)
6:25875474 (GRCh37)
Canonical SPDI:: NC_000006.12:25875245:T:A
Gene:: SLC17A3 (Varview)
Functional Consequence:: 2KB_upstream_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)
HGVS:: NC_000006.12:g.25875246T>A, NC_000006.11:g.25875474T>A, NG_032922.1:g.3998A>T

Select item 14906662267.

rs1490666226 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 6:25859634 (GRCh38)
6:25859862 (GRCh37)
Canonical SPDI:: NC_000006.12:25859633:T:A
Gene:: SLC17A3 (Varview), LOC124901285 (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_000006.12:g.25859634T>A, NC_000006.11:g.25859862T>A, NG_032922.1:g.19610A>T

Select item 14906169838.

rs1490616983 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:25849433 (GRCh38)
6:25849661 (GRCh37)
Canonical SPDI:: NC_000006.12:25849432:C:T
Gene:: SLC17A3 (Varview), LOC124901285 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000084/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.25849433C>T, NC_000006.11:g.25849661C>T, NG_032922.1:g.29811G>A, NM_006632.4:c.1069G>A, NM_006632.3:c.1069G>A, NM_001098486.2:c.1303G>A, NM_001098486.1:c.1303G>A, NP_006623.2:p.Gly357Arg, NP_001091956.1:p.Gly435Arg

Select item 14902790329.

rs1490279032 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:25852139 (GRCh38)
6:25852367 (GRCh37)
Canonical SPDI:: NC_000006.12:25852138:G:A
Gene:: SLC17A3 (Varview), LOC124901285 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000006.12:g.25852139G>A, NC_000006.11:g.25852367G>A, NG_032922.1:g.27105C>T

Select item 149014089810.

rs1490140898 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G,T [Show Flanks]
Chromosome:: 6:25862133 (GRCh38)
6:25862361 (GRCh37)
Canonical SPDI:: NC_000006.12:25862132:C:A,NC_000006.12:25862132:C:G,NC_000006.12:25862132:C:T
Gene:: SLC17A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.25862133C>A, NC_000006.12:g.25862133C>G, NC_000006.12:g.25862133C>T, NC_000006.11:g.25862361C>A, NC_000006.11:g.25862361C>G, NC_000006.11:g.25862361C>T, NG_032922.1:g.17111G>T, NG_032922.1:g.17111G>C, NG_032922.1:g.17111G>A

Select item 149010069411.

rs1490100694 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:25852233 (GRCh38)
6:25852461 (GRCh37)
Canonical SPDI:: NC_000006.12:25852232:C:A
Gene:: SLC17A3 (Varview), LOC124901285 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.25852233C>A, NC_000006.11:g.25852461C>A, NG_032922.1:g.27011G>T

Select item 149004486712.

rs1490044867 [Homo sapiens]

Variant type:: DELINS
Alleles:: GATGAG>- [Show Flanks]
Chromosome:: 6:25851173 (GRCh38)
6:25851401 (GRCh37)
Canonical SPDI:: NC_000006.12:25851170:AGGATGAG:AG
Gene:: SLC17A3 (Varview), LOC124901285 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.25851173_25851178del, NC_000006.11:g.25851401_25851406del, NG_032922.1:g.28068_28073del

Select item 148999349613.

rs1489993496 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:25866123 (GRCh38)
6:25866351 (GRCh37)
Canonical SPDI:: NC_000006.12:25866122:C:T
Gene:: SLC17A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.25866123C>T, NC_000006.11:g.25866351C>T, NG_032922.1:g.13121G>A

Select item 148988931014.

rs1489889310 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:25851633 (GRCh38)
6:25851861 (GRCh37)
Canonical SPDI:: NC_000006.12:25851632:C:T
Gene:: SLC17A3 (Varview), LOC124901285 (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_000006.12:g.25851633C>T, NC_000006.11:g.25851861C>T, NG_032922.1:g.27611G>A

Select item 148978230815.

rs1489782308 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:25861766 (GRCh38)
6:25861994 (GRCh37)
Canonical SPDI:: NC_000006.12:25861765:T:C
Gene:: SLC17A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000016/4 (GnomAD_exomes)
HGVS:: NC_000006.12:g.25861766T>C, NC_000006.11:g.25861994T>C, NG_032922.1:g.17478A>G

Select item 148976001716.

rs1489760017 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:25868393 (GRCh38)
6:25868621 (GRCh37)
Canonical SPDI:: NC_000006.12:25868392:T:C
Gene:: SLC17A3 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.25868393T>C, NC_000006.11:g.25868621T>C, NG_032922.1:g.10851A>G, NM_006632.4:c.-6A>G, NM_006632.3:c.-6A>G, NM_001098486.2:c.-6A>G, NM_001098486.1:c.-6A>G

Select item 148973610117.

rs1489736101 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:25863640 (GRCh38)
6:25863868 (GRCh37)
Canonical SPDI:: NC_000006.12:25863639:T:C
Gene:: SLC17A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (KOREAN)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
C=0.000566/9 (TOMMO)
C=0.001638/3 (Korea1K)
HGVS:: NC_000006.12:g.25863640T>C, NC_000006.11:g.25863868T>C, NG_032922.1:g.15604A>G

Select item 148964934718.

rs1489649347 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:25847150 (GRCh38)
6:25847378 (GRCh37)
Canonical SPDI:: NC_000006.12:25847149:C:T
Gene:: SLC17A3 (Varview), LOC124901285 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000006.12:g.25847150C>T, NC_000006.11:g.25847378C>T, NG_032922.1:g.32094G>A

Select item 148963186319.

rs1489631863 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 6:25844745 (GRCh38)
6:25844973 (GRCh37)
Canonical SPDI:: NC_000006.12:25844744:C:G
Gene:: SLC17A3 (Varview), LOC124901285 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.25844745C>G, NC_000006.11:g.25844973C>G, NG_032922.1:g.34499G>C

Select item 148962397720.

rs1489623977 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:25851749 (GRCh38)
6:25851977 (GRCh37)
Canonical SPDI:: NC_000006.12:25851748:C:T
Gene:: SLC17A3 (Varview), LOC124901285 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000006.12:g.25851749C>T, NC_000006.11:g.25851977C>T, NG_032922.1:g.27495G>A

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