SNP Links for Gene (Select 10246) - SNP

Links from Gene

Items: 1 to 20 of 1000

<< First< Prev

Page of 50

Next >Last >>

Select item 14915752101.

rs1491575210 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 6:25932422 (GRCh38)
6:25932651 (GRCh37)
Canonical SPDI:: NC_000006.12:25932422::G
Gene:: SLC17A2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000546/1 (Korea1K)
G=0.001229/169 (GnomAD)
HGVS:: NC_000006.12:g.25932422_25932423insG, NC_000006.11:g.25932650_25932651insG, NG_034000.1:g.3304_3305insC

Select item 14913949092.

rs1491394909 has merged into rs33975030 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 6:25924822 (GRCh38)
6:25925050 (GRCh37)
Canonical SPDI:: NC_000006.12:25924808:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000006.12:25924808:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000006.12:25924808:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000006.12:25924808:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000006.12:25924808:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000006.12:25924808:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SLC17A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0.0002/2 (ALFA)
AA=0.4878/2443 (1000Genomes)
HGVS:: NC_000006.12:g.25924822_25924824del, NC_000006.12:g.25924823_25924824del, NC_000006.12:g.25924824del, NC_000006.12:g.25924824dup, NC_000006.12:g.25924823_25924824dup, NC_000006.12:g.25924817_25924824dup, NC_000006.11:g.25925050_25925052del, NC_000006.11:g.25925051_25925052del, NC_000006.11:g.25925052del, NC_000006.11:g.25925052dup, NC_000006.11:g.25925051_25925052dup, NC_000006.11:g.25925045_25925052dup, NG_034000.1:g.10916_10918del, NG_034000.1:g.10917_10918del, NG_034000.1:g.10918del, NG_034000.1:g.10918dup, NG_034000.1:g.10917_10918dup, NG_034000.1:g.10911_10918dup

Select item 14912541623.

rs1491254162 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 6:25932423 (GRCh38)
6:25932651 (GRCh37)
Canonical SPDI:: NC_000006.12:25932421:AAA:A
Gene:: SLC17A2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.002192/26 (ALFA)
-=0.000037/1 (TOMMO)
-=0.000184/24 (GnomAD)
-=0.000468/3 (1000Genomes)
HGVS:: NC_000006.12:g.25932423_25932424del, NC_000006.11:g.25932651_25932652del, NG_034000.1:g.3304_3305del

Select item 14912468244.

rs1491246824 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 6:25932403 (GRCh38)
6:25932631 (GRCh37)
Canonical SPDI:: NC_000006.12:25932401:AGA:A
Gene:: SLC17A2 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.00998/37 (TWINSUK)
-=0.01168/45 (ALSPAC)
HGVS:: NC_000006.12:g.25932403_25932404del, NC_000006.11:g.25932631_25932632del, NG_034000.1:g.3324_3325del

Select item 14909166165.

rs1490916616 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 6:25928065 (GRCh38)
6:25928293 (GRCh37)
Canonical SPDI:: NC_000006.12:25928064:C:A,NC_000006.12:25928064:C:T
Gene:: SLC17A2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
HGVS:: NC_000006.12:g.25928065C>A, NC_000006.12:g.25928065C>T, NC_000006.11:g.25928293C>A, NC_000006.11:g.25928293C>T, NG_034000.1:g.7662G>T, NG_034000.1:g.7662G>A

Select item 14908604836.

rs1490860483 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:25926660 (GRCh38)
6:25926888 (GRCh37)
Canonical SPDI:: NC_000006.12:25926659:T:C
Gene:: SLC17A2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000142/2 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000006.12:g.25926660T>C, NC_000006.11:g.25926888T>C, NG_034000.1:g.9067A>G

Select item 14906236457.

rs1490623645 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:25920076 (GRCh38)
6:25920304 (GRCh37)
Canonical SPDI:: NC_000006.12:25920075:G:A
Gene:: SLC17A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.25920076G>A, NC_000006.11:g.25920304G>A, NG_034000.1:g.15651C>T

Select item 14906031438.

rs1490603143 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:25919371 (GRCh38)
6:25919599 (GRCh37)
Canonical SPDI:: NC_000006.12:25919370:C:A
Gene:: SLC17A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.25919371C>A, NC_000006.11:g.25919599C>A, NG_034000.1:g.16356G>T

Select item 14905930559.

rs1490593055 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:25917881 (GRCh38)
6:25918109 (GRCh37)
Canonical SPDI:: NC_000006.12:25917880:G:A
Gene:: SLC17A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000006.12:g.25917881G>A, NC_000006.11:g.25918109G>A, NG_034000.1:g.17846C>T

Select item 149041007410.

rs1490410074 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:25918349 (GRCh38)
6:25918577 (GRCh37)
Canonical SPDI:: NC_000006.12:25918348:A:G
Gene:: SLC17A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000006.12:g.25918349A>G, NC_000006.11:g.25918577A>G, NG_034000.1:g.17378T>C

Select item 149026739211.

rs1490267392 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 6:25914523 (GRCh38)
6:25914751 (GRCh37)
Canonical SPDI:: NC_000006.12:25914522:T:C
Gene:: SLC17A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.25914523T>C, NC_000006.11:g.25914751T>C, NG_034000.1:g.21204A>G

Select item 149021641112.

rs1490216411 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:25916803 (GRCh38)
6:25917031 (GRCh37)
Canonical SPDI:: NC_000006.12:25916802:G:A
Gene:: SLC17A2 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0.000111/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.25916803G>A, NC_000006.11:g.25917031G>A, NG_034000.1:g.18924C>T, NM_005835.4:c.812C>T, NM_005835.3:c.812C>T, NM_005835.2:c.812C>T, NM_001286123.3:c.812C>T, NM_001286123.2:c.812C>T, NM_001286123.1:c.812C>T, NM_001286125.2:c.812C>T, NM_001286125.1:c.812C>T, XM_006714949.4:c.812C>T, XM_006714949.3:c.812C>T, XM_006714949.2:c.812C>T, XM_006714949.1:c.812C>T, XM_006714950.3:c.743C>T, XM_006714950.2:c.743C>T, XM_006714950.1:c.743C>T, XM_017010159.2:c.743C>T, XM_017010159.1:c.743C>T, XM_006714951.2:c.812C>T, XM_006714951.1:c.812C>T, XM_017010160.2:c.812C>T, XM_017010160.1:c.812C>T, XM_047418065.1:c.812C>T, XM_047418066.1:c.812C>T, NP_005826.1:p.Thr271Ile, NP_001273052.1:p.Thr271Ile, NP_001273054.1:p.Thr271Ile, XP_006715012.1:p.Thr271Ile, XP_006715013.1:p.Thr248Ile, XP_016865648.1:p.Thr248Ile, XP_006715014.1:p.Thr271Ile, XP_016865649.1:p.Thr271Ile, XP_047274021.1:p.Thr271Ile, XP_047274022.1:p.Thr271Ile

Select item 149004305713.

rs1490043057 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:25927139 (GRCh38)
6:25927367 (GRCh37)
Canonical SPDI:: NC_000006.12:25927138:A:G
Gene:: SLC17A2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000006.12:g.25927139A>G, NC_000006.11:g.25927367A>G, NG_034000.1:g.8588T>C

Select item 148972279514.

rs1489722795 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:25925449 (GRCh38)
6:25925677 (GRCh37)
Canonical SPDI:: NC_000006.12:25925448:G:A
Gene:: SLC17A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.25925449G>A, NC_000006.11:g.25925677G>A, NG_034000.1:g.10278C>T

Select item 148879957015.

rs1488799570 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:25930264 (GRCh38)
6:25930492 (GRCh37)
Canonical SPDI:: NC_000006.12:25930263:A:T
Gene:: SLC17A2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000043/6 (GnomAD)
T=0.000053/14 (TOPMED)
HGVS:: NC_000006.12:g.25930264A>T, NC_000006.11:g.25930492A>T, NG_034000.1:g.5463T>A

Select item 148845346116.

rs1488453461 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 6:25913980 (GRCh38)
6:25914208 (GRCh37)
Canonical SPDI:: NC_000006.12:25913979:A:T
Gene:: SLC17A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.25913980A>T, NC_000006.11:g.25914208A>T, NG_034000.1:g.21747T>A

Select item 148801792317.

rs1488017923 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 6:25924915 (GRCh38)
6:25925143 (GRCh37)
Canonical SPDI:: NC_000006.12:25924914:A:C
Gene:: SLC17A2 (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_000006.12:g.25924915A>C, NC_000006.11:g.25925143A>C, NG_034000.1:g.10812T>G

Select item 148782126618.

rs1487821266 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:25918612 (GRCh38)
6:25918840 (GRCh37)
Canonical SPDI:: NC_000006.12:25918611:A:G,NC_000006.12:25918611:A:T
Gene:: SLC17A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.25918612A>G, NC_000006.12:g.25918612A>T, NC_000006.11:g.25918840A>G, NC_000006.11:g.25918840A>T, NG_034000.1:g.17115T>C, NG_034000.1:g.17115T>A

Select item 148778268319.

rs1487782683 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:25915944 (GRCh38)
6:25916172 (GRCh37)
Canonical SPDI:: NC_000006.12:25915943:C:T
Gene:: SLC17A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.25915944C>T, NC_000006.11:g.25916172C>T, NG_034000.1:g.19783G>A

Select item 148775295120.

rs1487752951 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 6:25917241 (GRCh38)
6:25917469 (GRCh37)
Canonical SPDI:: NC_000006.12:25917240:C:A
Gene:: SLC17A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.25917241C>A, NC_000006.11:g.25917469C>A, NG_034000.1:g.18486G>T

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 1000

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity