SNP Links for Gene (Select 100302181) - SNP

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Select item 14903900411.

rs1490390041 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->TTATT
Chromosome:: no mapping
Canonical SPDI:

Select item 14898379292.

rs1489837929 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 5:154345294 (GRCh38)
5:153724854 (GRCh37)
Canonical SPDI:: NC_000005.10:154345293:T:A,NC_000005.10:154345293:T:C
Gene:: GALNT10 (Varview), MIR1294 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.154345294T>A, NC_000005.10:g.154345294T>C, NC_000005.9:g.153724854T>A, NC_000005.9:g.153724854T>C

Select item 14895398883.

rs1489539888 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATCATATGG>- [Show Flanks]
Chromosome:: 5:154346335 (GRCh38)
5:153725895 (GRCh37)
Canonical SPDI:: NC_000005.10:154346331:TGGATCATATGG:TGG
Gene:: GALNT10 (Varview), MIR1294 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TGG=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.154346335_154346343del, NC_000005.9:g.153725895_153725903del

Select item 14876394544.

rs1487639454 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:154346894 (GRCh38)
5:153726454 (GRCh37)
Canonical SPDI:: NC_000005.10:154346893:T:C
Gene:: GALNT10 (Varview), MIR1294 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.154346894T>C, NC_000005.9:g.153726454T>C

Select item 14870258185.

rs1487025818 has merged into rs751597207 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,TT,TTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:154345640 (GRCh38)
5:153725200 (GRCh37)
Canonical SPDI:: NC_000005.10:154345628:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:154345628:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:154345628:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:154345628:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:154345628:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:154345628:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:154345628:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:154345628:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:154345628:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:154345628:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:154345628:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:154345628:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:154345628:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:154345628:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:154345628:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:154345628:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: GALNT10 (Varview), MIR1294 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.45/18 (GENOME_DK)
HGVS:: NC_000005.10:g.154345640_154345652del, NC_000005.10:g.154345642_154345652del, NC_000005.10:g.154345643_154345652del, NC_000005.10:g.154345646_154345652del, NC_000005.10:g.154345647_154345652del, NC_000005.10:g.154345648_154345652del, NC_000005.10:g.154345649_154345652del, NC_000005.10:g.154345650_154345652del, NC_000005.10:g.154345651_154345652del, NC_000005.10:g.154345652del, NC_000005.10:g.154345652dup, NC_000005.10:g.154345651_154345652dup, NC_000005.10:g.154345650_154345652dup, NC_000005.10:g.154345649_154345652dup, NC_000005.10:g.154345648_154345652dup, NC_000005.10:g.154345640_154345652dup, NC_000005.9:g.153725200_153725212del, NC_000005.9:g.153725202_153725212del, NC_000005.9:g.153725203_153725212del, NC_000005.9:g.153725206_153725212del, NC_000005.9:g.153725207_153725212del, NC_000005.9:g.153725208_153725212del, NC_000005.9:g.153725209_153725212del, NC_000005.9:g.153725210_153725212del, NC_000005.9:g.153725211_153725212del, NC_000005.9:g.153725212del, NC_000005.9:g.153725212dup, NC_000005.9:g.153725211_153725212dup, NC_000005.9:g.153725210_153725212dup, NC_000005.9:g.153725209_153725212dup, NC_000005.9:g.153725208_153725212dup, NC_000005.9:g.153725200_153725212dup

Select item 14863192446.

rs1486319244 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:154345275 (GRCh38)
5:153724835 (GRCh37)
Canonical SPDI:: NC_000005.10:154345274:A:G
Gene:: GALNT10 (Varview), MIR1294 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.154345275A>G, NC_000005.9:g.153724835A>G

Select item 14833181007.

rs1483318100 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:154346842 (GRCh38)
5:153726402 (GRCh37)
Canonical SPDI:: NC_000005.10:154346841:C:T
Gene:: GALNT10 (Varview), MIR1294 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.154346842C>T, NC_000005.9:g.153726402C>T

Select item 14831203118.

rs1483120311 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:154347555 (GRCh38)
5:153727115 (GRCh37)
Canonical SPDI:: NC_000005.10:154347554:T:C
Gene:: GALNT10 (Varview), MIR1294 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.154347555T>C, NC_000005.9:g.153727115T>C

Select item 14824600529.

rs1482460052 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:154346170 (GRCh38)
5:153725730 (GRCh37)
Canonical SPDI:: NC_000005.10:154346169:T:G
Gene:: GALNT10 (Varview), MIR1294 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.154346170T>G, NC_000005.9:g.153725730T>G

Select item 148200617210.

rs1482006172 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:154347098 (GRCh38)
5:153726658 (GRCh37)
Canonical SPDI:: NC_000005.10:154347097:T:C
Gene:: GALNT10 (Varview), MIR1294 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
HGVS:: NC_000005.10:g.154347098T>C, NC_000005.9:g.153726658T>C

Select item 148158419811.

rs1481584198 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:154345458 (GRCh38)
5:153725018 (GRCh37)
Canonical SPDI:: NC_000005.10:154345457:A:G
Gene:: GALNT10 (Varview), MIR1294 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000005.10:g.154345458A>G, NC_000005.9:g.153725018A>G

Select item 148111821412.

rs1481118214 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:154347089 (GRCh38)
5:153726649 (GRCh37)
Canonical SPDI:: NC_000005.10:154347088:A:T
Gene:: GALNT10 (Varview), MIR1294 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000009/2 (GnomAD_exomes)
HGVS:: NC_000005.10:g.154347089A>T, NC_000005.9:g.153726649A>T

Select item 148094216313.

rs1480942163 has merged into rs35697160 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,TT,TTT,TTTT,TTTTTT [Show Flanks]
Chromosome:: 5:154345812 (GRCh38)
5:153725372 (GRCh37)
Canonical SPDI:: NC_000005.10:154345802:TTTTTTTTTTTTTT:TTTTTTTTT,NC_000005.10:154345802:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:154345802:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:154345802:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:154345802:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: GALNT10 (Varview), MIR1294 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
T=0.3/12 (GENOME_DK)
T=0.4673/2340 (1000Genomes)
HGVS:: NC_000005.10:g.154345812_154345816del, NC_000005.10:g.154345814_154345816del, NC_000005.10:g.154345815_154345816del, NC_000005.10:g.154345816del, NC_000005.10:g.154345816dup, NC_000005.9:g.153725372_153725376del, NC_000005.9:g.153725374_153725376del, NC_000005.9:g.153725375_153725376del, NC_000005.9:g.153725376del, NC_000005.9:g.153725376dup

Select item 148056719514.

rs1480567195 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:154345860 (GRCh38)
5:153725420 (GRCh37)
Canonical SPDI:: NC_000005.10:154345859:G:T
Gene:: GALNT10 (Varview), MIR1294 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000084/1 (ALFA)
T=0.000029/4 (GnomAD)
HGVS:: NC_000005.10:g.154345860G>T, NC_000005.9:g.153725420G>T

Select item 147994945415.

rs1479949454 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:154345651 (GRCh38)
5:153725211 (GRCh37)
Canonical SPDI:: NC_000005.10:154345650:T:C
Gene:: GALNT10 (Varview), MIR1294 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000005.10:g.154345651T>C, NC_000005.9:g.153725211T>C

Select item 147912305516.

rs1479123055 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:154347547 (GRCh38)
5:153727107 (GRCh37)
Canonical SPDI:: NC_000005.10:154347546:A:G
Gene:: GALNT10 (Varview), MIR1294 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000005.10:g.154347547A>G, NC_000005.9:g.153727107A>G

Select item 147798419817.

rs1477984198 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:154345847 (GRCh38)
5:153725407 (GRCh37)
Canonical SPDI:: NC_000005.10:154345846:G:A
Gene:: GALNT10 (Varview), MIR1294 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000015/2 (GnomAD)
HGVS:: NC_000005.10:g.154345847G>A, NC_000005.9:g.153725407G>A

Select item 147734633918.

rs1477346339 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:154346045 (GRCh38)
5:153725605 (GRCh37)
Canonical SPDI:: NC_000005.10:154346044:C:A
Gene:: GALNT10 (Varview), MIR1294 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.154346045C>A, NC_000005.9:g.153725605C>A

Select item 147673393819.

rs1476733938 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:154347188 (GRCh38)
5:153726748 (GRCh37)
Canonical SPDI:: NC_000005.10:154347187:A:G
Gene:: GALNT10 (Varview), MIR1294 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000005.10:g.154347188A>G, NC_000005.9:g.153726748A>G, NR_031626.1:n.83A>G

Select item 147485431620.

rs1474854316 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:154345980 (GRCh38)
5:153725540 (GRCh37)
Canonical SPDI:: NC_000005.10:154345979:G:T
Gene:: GALNT10 (Varview), MIR1294 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.02099/249 (ALFA)
T=0.00345/2 (NorthernSweden)
T=0.00602/11 (Korea1K)
T=0.00614/103 (TOMMO)
T=0.06678/195 (KOREAN)
HGVS:: NC_000005.10:g.154345980G>T, NC_000005.9:g.153725540G>T

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