SNP Links for Gene (Select 130814) - SNP

Links from Gene

Items: 1 to 20 of 6851

<< First< Prev

Page of 343

Next >Last >>

Select item 14915201121.

rs1491520112 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTGA [Show Flanks]
Chromosome:: 2:11179343 (GRCh38)
2:11319470 (GRCh37)
Canonical SPDI:: NC_000002.12:11179343:GAGTGA:GAGTGAGTGA
Gene:: ROCK2 (Varview), SLC66A3 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGTGAGTGA=0./0 (ALFA)
GAGT=0.000007/1 (GnomAD)
GAGT=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.11179346_11179349dup, NC_000002.11:g.11319472_11319475dup

Select item 14915148822.

rs1491514882 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 2:11160801 (GRCh38)
2:11300927 (GRCh37)
Canonical SPDI:: NC_000002.12:11160800:TA:
Gene:: SLC66A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
HGVS:: NC_000002.12:g.11160801_11160802del, NC_000002.11:g.11300927_11300928del

Select item 14915080843.

rs1491508084 has merged into rs35227502 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA [Show Flanks]
Chromosome:: 2:11160815 (GRCh38)
2:11300941 (GRCh37)
Canonical SPDI:: NC_000002.12:11160801:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:11160801:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:11160801:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:11160801:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:11160801:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:11160801:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:11160801:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:11160801:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:11160801:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:11160801:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SLC66A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.11160815_11160821del, NC_000002.12:g.11160816_11160821del, NC_000002.12:g.11160817_11160821del, NC_000002.12:g.11160818_11160821del, NC_000002.12:g.11160819_11160821del, NC_000002.12:g.11160820_11160821del, NC_000002.12:g.11160821del, NC_000002.12:g.11160821dup, NC_000002.12:g.11160820_11160821dup, NC_000002.12:g.11160818_11160821dup, NC_000002.11:g.11300941_11300947del, NC_000002.11:g.11300942_11300947del, NC_000002.11:g.11300943_11300947del, NC_000002.11:g.11300944_11300947del, NC_000002.11:g.11300945_11300947del, NC_000002.11:g.11300946_11300947del, NC_000002.11:g.11300947del, NC_000002.11:g.11300947dup, NC_000002.11:g.11300946_11300947dup, NC_000002.11:g.11300944_11300947dup

Select item 14913579074.

rs1491357907 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:11161280 (GRCh38)
2:11301407 (GRCh37)
Canonical SPDI:: NC_000002.12:11161280:A:AA
Gene:: SLC66A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AA=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.11161281dup, NC_000002.11:g.11301407dup

Select item 14913423355.

rs1491342335 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 2:11169838 (GRCh38)
2:11309965 (GRCh37)
Canonical SPDI:: NC_000002.12:11169838::C
Gene:: SLC66A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000002.12:g.11169838_11169839insC, NC_000002.11:g.11309964_11309965insC

Select item 14912862616.

rs1491286261 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 2:11179345 (GRCh38)
2:11319471 (GRCh37)
Canonical SPDI:: NC_000002.12:11179342:AGAG:AG
Gene:: ROCK2 (Varview), SLC66A3 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000042/11 (TOPMED)
-=0.000312/2 (1000Genomes)
HGVS:: NC_000002.12:g.11179343AG[1], NC_000002.11:g.11319469AG[1]

Select item 14912445307.

rs1491244530 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:11161280 (GRCh38)
2:11301406 (GRCh37)
Canonical SPDI:: NC_000002.12:11161279:CA:
Gene:: SLC66A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.0183/81 (ALFA)
HGVS:: NC_000002.12:g.11161280_11161281del, NC_000002.11:g.11301406_11301407del

Select item 14912242548.

rs1491224254 has merged into rs1186098636 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:11169848 (GRCh38)
2:11309974 (GRCh37)
Canonical SPDI:: NC_000002.12:11169837:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:11169837:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:11169837:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:11169837:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:11169837:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:11169837:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:11169837:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:11169837:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:11169837:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:11169837:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:11169837:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:11169837:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:11169837:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:11169837:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:11169837:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:11169837:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:11169837:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:11169837:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:11169837:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:11169837:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:11169837:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:11169837:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:11169837:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:11169837:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:11169837:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:11169837:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:11169837:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SLC66A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.11169848_11169857del, NC_000002.12:g.11169849_11169857del, NC_000002.12:g.11169851_11169857del, NC_000002.12:g.11169852_11169857del, NC_000002.12:g.11169853_11169857del, NC_000002.12:g.11169854_11169857del, NC_000002.12:g.11169855_11169857del, NC_000002.12:g.11169856_11169857del, NC_000002.12:g.11169857del, NC_000002.12:g.11169857dup, NC_000002.12:g.11169856_11169857dup, NC_000002.12:g.11169855_11169857dup, NC_000002.12:g.11169854_11169857dup, NC_000002.12:g.11169853_11169857dup, NC_000002.12:g.11169852_11169857dup, NC_000002.12:g.11169851_11169857dup, NC_000002.12:g.11169850_11169857dup, NC_000002.12:g.11169849_11169857dup, NC_000002.12:g.11169848_11169857dup, NC_000002.12:g.11169847_11169857dup, NC_000002.12:g.11169846_11169857dup, NC_000002.12:g.11169845_11169857dup, NC_000002.12:g.11169844_11169857dup, NC_000002.12:g.11169843_11169857dup, NC_000002.12:g.11169842_11169857dup, NC_000002.12:g.11169840_11169857dup, NC_000002.12:g.11169839_11169857dup, NC_000002.11:g.11309974_11309983del, NC_000002.11:g.11309975_11309983del, NC_000002.11:g.11309977_11309983del, NC_000002.11:g.11309978_11309983del, NC_000002.11:g.11309979_11309983del, NC_000002.11:g.11309980_11309983del, NC_000002.11:g.11309981_11309983del, NC_000002.11:g.11309982_11309983del, NC_000002.11:g.11309983del, NC_000002.11:g.11309983dup, NC_000002.11:g.11309982_11309983dup, NC_000002.11:g.11309981_11309983dup, NC_000002.11:g.11309980_11309983dup, NC_000002.11:g.11309979_11309983dup, NC_000002.11:g.11309978_11309983dup, NC_000002.11:g.11309977_11309983dup, NC_000002.11:g.11309976_11309983dup, NC_000002.11:g.11309975_11309983dup, NC_000002.11:g.11309974_11309983dup, NC_000002.11:g.11309973_11309983dup, NC_000002.11:g.11309972_11309983dup, NC_000002.11:g.11309971_11309983dup, NC_000002.11:g.11309970_11309983dup, NC_000002.11:g.11309969_11309983dup, NC_000002.11:g.11309968_11309983dup, NC_000002.11:g.11309966_11309983dup, NC_000002.11:g.11309965_11309983dup

Select item 14911913479.

rs1491191347 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:11153924 (GRCh38)
2:11294050 (GRCh37)
Canonical SPDI:: NC_000002.12:11153923:CA:
Gene:: C2orf50 (Varview), SLC66A3 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.11153924_11153925del, NC_000002.11:g.11294050_11294051del

Select item 149097088110.

rs1490970881 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 2:11155423 (GRCh38)
2:11295549 (GRCh37)
Canonical SPDI:: NC_000002.12:11155422:C:A,NC_000002.12:11155422:C:G
Gene:: SLC66A3 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000002.12:g.11155423C>A, NC_000002.12:g.11155423C>G, NC_000002.11:g.11295549C>A, NC_000002.11:g.11295549C>G, NM_152391.4:c.-124C>A, NM_152391.4:c.-124C>G, NM_152391.3:c.-124C>A, NM_152391.3:c.-124C>G, NR_104231.1:n.52C>A, NR_104231.1:n.52C>G, NM_001282710.1:c.-124C>A, NM_001282710.1:c.-124C>G, NM_001282711.1:c.-124C>A, NM_001282711.1:c.-124C>G, NM_001282712.1:c.-124C>A, NM_001282712.1:c.-124C>G

Select item 149057375711.

rs1490573757 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGC>- [Show Flanks]
Chromosome:: 2:11168154 (GRCh38)
2:11308280 (GRCh37)
Canonical SPDI:: NC_000002.12:11168150:GGCGGGC:GGC
Gene:: SLC66A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.11168154_11168157del, NC_000002.11:g.11308280_11308283del

Select item 149040499412.

rs1490404994 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:11172160 (GRCh38)
2:11312286 (GRCh37)
Canonical SPDI:: NC_000002.12:11172159:A:G
Gene:: SLC66A3 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_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_000002.12:g.11172160A>G, NC_000002.11:g.11312286A>G

Select item 149023635213.

rs1490236352 has merged into rs958719217 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 2:11159255 (GRCh38)
2:11299381 (GRCh37)
Canonical SPDI:: NC_000002.12:11159254:CCCCCC:CCCCC,NC_000002.12:11159254:CCCCCC:CCCCCCC
Gene:: SLC66A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCC=0./0 (ALFA)
HGVS:: NC_000002.12:g.11159260del, NC_000002.12:g.11159260dup, NC_000002.11:g.11299386del, NC_000002.11:g.11299386dup

Select item 149004727014.

rs1490047270 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 2:11156539 (GRCh38)
2:11296665 (GRCh37)
Canonical SPDI:: NC_000002.12:11156538:GGGGGG:GGGGG
Gene:: SLC66A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGG=0./0 (ALFA)
-=0.000176/24 (GnomAD)
-=0.000189/50 (TOPMED)
HGVS:: NC_000002.12:g.11156544del, NC_000002.11:g.11296670del

Select item 148998365515.

rs1489983655 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 2:11154003 (GRCh38)
2:11294129 (GRCh37)
Canonical SPDI:: NC_000002.12:11154002:G:A,NC_000002.12:11154002:G:T
Gene:: C2orf50 (Varview), SLC66A3 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000108/2 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000446/2 (Estonian)
HGVS:: NC_000002.12:g.11154003G>A, NC_000002.12:g.11154003G>T, NC_000002.11:g.11294129G>A, NC_000002.11:g.11294129G>T

Select item 148971539916.

rs1489715399 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:11174638 (GRCh38)
2:11314765 (GRCh37)
Canonical SPDI:: NC_000002.12:11174638:GG:GGG
Gene:: SLC66A3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GGG=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000002.12:g.11174640dup, NC_000002.11:g.11314766dup

Select item 148969821417.

rs1489698214 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:11153985 (GRCh38)
2:11294111 (GRCh37)
Canonical SPDI:: NC_000002.12:11153984:A:G
Gene:: C2orf50 (Varview), SLC66A3 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000002.12:g.11153985A>G, NC_000002.11:g.11294111A>G

Select item 148957538918.

rs1489575389 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCT>- [Show Flanks]
Chromosome:: 2:11173088 (GRCh38)
2:11313214 (GRCh37)
Canonical SPDI:: NC_000002.12:11173085:CTCCT:CT
Gene:: SLC66A3 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CT=0.000142/2 (ALFA)
-=0.000026/7 (TOPMED)
-=0.000057/8 (GnomAD)
HGVS:: NC_000002.12:g.11173088_11173090del, NC_000002.11:g.11313214_11313216del, XM_047443425.1:c.*303_*305del

Select item 148954820419.

rs1489548204 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 2:11162459 (GRCh38)
2:11302585 (GRCh37)
Canonical SPDI:: NC_000002.12:11162458:G:T
Gene:: SLC66A3 (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_000002.12:g.11162459G>T, NC_000002.11:g.11302585G>T

Select item 148950401620.

rs1489504016 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:11170611 (GRCh38)
2:11310737 (GRCh37)
Canonical SPDI:: NC_000002.12:11170610:C:T
Gene:: SLC66A3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000035/1 (TOMMO)
T=0.000044/6 (GnomAD)
T=0.000098/26 (TOPMED)
C=0.5/1 (SGDP_PRJ)
HGVS:: NC_000002.12:g.11170611C>T, NC_000002.11:g.11310737C>T

<< First< Prev

Page of 343

Next >Last >>

dbSNP

Result Filters

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 6851

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity