SNP Links for Gene (Select 64968) - SNP

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Select item 14915066301.

rs1491506630 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 21:34085600 (GRCh38)
21:35457899 (GRCh37)
Canonical SPDI:: NC_000021.9:34085599:CT:
Gene:: SLC5A3 (Varview), MRPS6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000021.9:g.34085600_34085601del, NC_000021.8:g.35457899_35457900del

Select item 14914492192.

rs1491449219 has merged into rs543766044 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT [Show Flanks]
Chromosome:: 21:34116332 (GRCh38)
21:35488631 (GRCh37)
Canonical SPDI:: NC_000021.9:34116318:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000021.9:34116318:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000021.9:34116318:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000021.9:34116318:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000021.9:34116318:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000021.9:34116318:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000021.9:34116318:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: MRPS6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000021.9:g.34116332_34116335del, NC_000021.9:g.34116333_34116335del, NC_000021.9:g.34116334_34116335del, NC_000021.9:g.34116335del, NC_000021.9:g.34116335dup, NC_000021.9:g.34116334_34116335dup, NC_000021.9:g.34116333_34116335dup, NC_000021.8:g.35488631_35488634del, NC_000021.8:g.35488632_35488634del, NC_000021.8:g.35488633_35488634del, NC_000021.8:g.35488634del, NC_000021.8:g.35488634dup, NC_000021.8:g.35488633_35488634dup, NC_000021.8:g.35488632_35488634dup

Select item 14914278413.

rs1491427841 has merged into rs56135810 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 21:34085611 (GRCh38)
21:35457910 (GRCh37)
Canonical SPDI:: NC_000021.9:34085600:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000021.9:34085600:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000021.9:34085600:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000021.9:34085600:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000021.9:34085600:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000021.9:34085600:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000021.9:34085600:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000021.9:34085600:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000021.9:34085600:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:34085600:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000021.9:34085600:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SLC5A3 (Varview), MRPS6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTT=0./0 (ALFA)
-=0.175/7 (GENOME_DK)
HGVS:: NC_000021.9:g.34085611_34085618del, NC_000021.9:g.34085615_34085618del, NC_000021.9:g.34085616_34085618del, NC_000021.9:g.34085617_34085618del, NC_000021.9:g.34085618del, NC_000021.9:g.34085618dup, NC_000021.9:g.34085617_34085618dup, NC_000021.9:g.34085616_34085618dup, NC_000021.9:g.34085615_34085618dup, NC_000021.9:g.34085614_34085618dup, NC_000021.9:g.34085613_34085618dup, NC_000021.8:g.35457910_35457917del, NC_000021.8:g.35457914_35457917del, NC_000021.8:g.35457915_35457917del, NC_000021.8:g.35457916_35457917del, NC_000021.8:g.35457917del, NC_000021.8:g.35457917dup, NC_000021.8:g.35457916_35457917dup, NC_000021.8:g.35457915_35457917dup, NC_000021.8:g.35457914_35457917dup, NC_000021.8:g.35457913_35457917dup, NC_000021.8:g.35457912_35457917dup

Select item 14913649704.

rs1491364970 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTT [Show Flanks]
Chromosome:: 21:34086517 (GRCh38)
21:35458816 (GRCh37)
Canonical SPDI:: NC_000021.9:34086515:TTT:T,NC_000021.9:34086515:TTT:TTTT
Gene:: SLC5A3 (Varview), MRPS6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00008/1 (ALFA)
-=0.00007/2 (TOMMO)
-=0.00019/14 (GnomAD)
HGVS:: NC_000021.9:g.34086517_34086518del, NC_000021.9:g.34086518dup, NC_000021.8:g.35458816_35458817del, NC_000021.8:g.35458817dup

Select item 14913281365.

rs1491328136 has merged into rs34874436 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C [Show Flanks]
Chromosome:: 21:34091265 (GRCh38)
21:35463564 (GRCh37)
Canonical SPDI:: NC_000021.9:34091262:CCCC:CC,NC_000021.9:34091262:CCCC:CCC
Gene:: SLC5A3 (Varview), MRPS6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCC=0.241387/4470 (ALFA)
C=0./0 (GENOME_DK)
C=0./0 (NorthernSweden)
C=0.000029/4 (GnomAD)
C=0.000035/1 (TOMMO)
-=0.000042/11 (TOPMED)
C=0.000156/1 (1000Genomes)
C=0.002729/5 (Korea1K)
-=0.157239/606 (ALSPAC)
HGVS:: NC_000021.9:g.34091265_34091266del, NC_000021.9:g.34091266del, NC_000021.8:g.35463564_35463565del, NC_000021.8:g.35463565del

Select item 14911945186.

rs1491194518 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 21:34086516 (GRCh38)
21:35458816 (GRCh37)
Canonical SPDI:: NC_000021.9:34086516::G
Gene:: SLC5A3 (Varview), MRPS6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: G=0.00035/25 (GnomAD)
HGVS:: NC_000021.9:g.34086516_34086517insG, NC_000021.8:g.35458815_35458816insG

Select item 14911231257.

rs1491123125 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,TTTTTT [Show Flanks]
Chromosome:: 21:34116178 (GRCh38)
21:35488477 (GRCh37)
Canonical SPDI:: NC_000021.9:34116175:TTTT:TT,NC_000021.9:34116175:TTTT:TTTTTTTT
Gene:: MRPS6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTT=0.000084/1 (ALFA)
TTTT=0.000004/1 (TOPMED)
-=0.000937/6 (1000Genomes)
-=0.00295/196 (GnomAD)
HGVS:: NC_000021.9:g.34116178_34116179del, NC_000021.9:g.34116176_34116179dup, NC_000021.8:g.35488477_35488478del, NC_000021.8:g.35488475_35488478dup

Select item 14909488638.

rs1490948863 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:34138707 (GRCh38)
21:35511007 (GRCh37)
Canonical SPDI:: NC_000021.9:34138706:G:A
Gene:: MRPS6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00025/3 (ALFA)
A=0./0 (Korea1K)
A=0.02053/60 (KOREAN)
HGVS:: NC_000021.9:g.34138707G>A, NC_000021.8:g.35511007G>A

Select item 14909352489.

rs1490935248 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 21:34094906 (GRCh38)
21:35467205 (GRCh37)
Canonical SPDI:: NC_000021.9:34094905:TTT:TT
Gene:: SLC5A3 (Varview), MRPS6 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.34094908del, NC_000021.8:g.35467207del, NM_006933.7:c.-291del, NM_006933.6:c.-291del, NM_006933.5:c.-291del, NM_006933.4:c.-291del

Select item 149091524510.

rs1490915245 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:34102170 (GRCh38)
21:35474469 (GRCh37)
Canonical SPDI:: NC_000021.9:34102169:C:T
Gene:: SLC5A3 (Varview), MRPS6 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000021.9:g.34102170C>T, NC_000021.8:g.35474469C>T, NM_006933.7:c.*4815C>T, NM_006933.6:c.*4815C>T, NM_006933.5:c.*4815C>T, NM_006933.4:c.*4815C>T

Select item 149091165911.

rs1490911659 [Homo sapiens]

Variant type:: DELINS
Alleles:: TACT>- [Show Flanks]
Chromosome:: 21:34080782 (GRCh38)
21:35453082 (GRCh37)
Canonical SPDI:: NC_000021.9:34080777:TACTTACT:TACT
Gene:: SLC5A3 (Varview), MRPS6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TACTTACT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000021.9:g.34080778TACT[1], NC_000021.8:g.35453078TACT[1]

Select item 149078488612.

rs1490784886 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 21:34132772 (GRCh38)
21:35505072 (GRCh37)
Canonical SPDI:: NC_000021.9:34132771:C:T
Gene:: MRPS6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000021.9:g.34132772C>T, NC_000021.8:g.35505072C>T

Select item 149078328813.

rs1490783288 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 21:34117176 (GRCh38)
21:35489475 (GRCh37)
Canonical SPDI:: NC_000021.9:34117175:C:G,NC_000021.9:34117175:C:T
Gene:: MRPS6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000021.9:g.34117176C>G, NC_000021.9:g.34117176C>T, NC_000021.8:g.35489475C>G, NC_000021.8:g.35489475C>T

Select item 149072363414.

rs1490723634 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 21:34103444 (GRCh38)
21:35475743 (GRCh37)
Canonical SPDI:: NC_000021.9:34103443:A:G
Gene:: SLC5A3 (Varview), MRPS6 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_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_000021.9:g.34103444A>G, NC_000021.8:g.35475743A>G, NM_006933.7:c.*6089A>G, NM_006933.6:c.*6089A>G, NM_006933.5:c.*6089A>G, NM_006933.4:c.*6089A>G

Select item 149065063715.

rs1490650637 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 21:34086799 (GRCh38)
21:35459098 (GRCh37)
Canonical SPDI:: NC_000021.9:34086798:G:T
Gene:: SLC5A3 (Varview), MRPS6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000084/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000021.9:g.34086799G>T, NC_000021.8:g.35459098G>T

Select item 149062033616.

rs1490620336 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 21:34084682 (GRCh38)
21:35456981 (GRCh37)
Canonical SPDI:: NC_000021.9:34084681:A:G,NC_000021.9:34084681:A:T
Gene:: SLC5A3 (Varview), MRPS6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000021.9:g.34084682A>G, NC_000021.9:g.34084682A>T, NC_000021.8:g.35456981A>G, NC_000021.8:g.35456981A>T

Select item 149060342317.

rs1490603423 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 21:34116348 (GRCh38)
21:35488647 (GRCh37)
Canonical SPDI:: NC_000021.9:34116347:T:G
Gene:: MRPS6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000023/6 (TOPMED)
G=0.000142/4 (TOMMO)
G=0.001638/3 (Korea1K)
HGVS:: NC_000021.9:g.34116348T>G, NC_000021.8:g.35488647T>G

Select item 149055806318.

rs1490558063 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 21:34103964 (GRCh38)
21:35476263 (GRCh37)
Canonical SPDI:: NC_000021.9:34103963:G:A
Gene:: SLC5A3 (Varview), MRPS6 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000021.9:g.34103964G>A, NC_000021.8:g.35476263G>A, NM_006933.7:c.*6609G>A, NM_006933.6:c.*6609G>A, NM_006933.5:c.*6609G>A, NM_006933.4:c.*6609G>A

Select item 149052830719.

rs1490528307 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 21:34102961 (GRCh38)
21:35475260 (GRCh37)
Canonical SPDI:: NC_000021.9:34102960:C:G
Gene:: SLC5A3 (Varview), MRPS6 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000319/5 (TOMMO)
G=0.000342/1 (KOREAN)
G=0.001092/2 (Korea1K)
HGVS:: NC_000021.9:g.34102961C>G, NC_000021.8:g.35475260C>G, NM_006933.7:c.*5606C>G, NM_006933.6:c.*5606C>G, NM_006933.5:c.*5606C>G, NM_006933.4:c.*5606C>G

Select item 149051153020.

rs1490511530 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 21:34075006 (GRCh38)
21:35447306 (GRCh37)
Canonical SPDI:: NC_000021.9:34075005:A:C
Gene:: SLC5A3 (Varview), MRPS6 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
HGVS:: NC_000021.9:g.34075006A>C, NC_000021.8:g.35447306A>C

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