SNP Links for Gene (Select 23155) - SNP

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Select item 14913848591.

rs1491384859 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 1:108941638 (GRCh38)
1:109484261 (GRCh37)
Canonical SPDI:: NC_000001.11:108941638:T:TT
Gene:: CLCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.108941639dup, NC_000001.10:g.109484261dup

Select item 14912538762.

rs1491253876 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:108930890 (GRCh38)
1:109473512 (GRCh37)
Canonical SPDI:: NC_000001.11:108930889:CA:
Gene:: CLCC1 (Varview), GPSM2 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00006/1 (ALFA)
HGVS:: NC_000001.11:g.108930890_108930891del, NC_000001.10:g.109473512_109473513del, NG_028108.2:g.60541_60542del, NM_013296.5:c.*950_*951del, NM_001321038.2:c.*950_*951del, NM_015127.5:c.*1656_*1657del, NM_015127.4:c.*1656_*1657del, XM_011541302.4:c.*950_*951del, XM_011541302.3:c.*950_*951del, XM_011541302.2:c.*950_*951del, XM_006710589.4:c.*950_*951del, XM_006710589.3:c.*950_*951del, XM_006710589.2:c.*950_*951del, XM_006710589.1:c.-810_-809del, XM_017001097.3:c.*950_*951del, XM_017001097.2:c.*950_*951del, XM_017001097.1:c.*950_*951del, XM_017001098.3:c.*950_*951del, XM_017001098.2:c.*950_*951del, XM_017001098.1:c.*950_*951del, NM_001048210.3:c.*1656_*1657del, NM_001048210.2:c.*1656_*1657del, NM_001278202.2:c.*1656_*1657del, NM_001278202.1:c.*1656_*1657del, XM_047418723.1:c.*950_*951del, XM_047418724.1:c.*950_*951del, NR_165299.1:n.3927_3928del, NM_001377470.1:c.*1656_*1657del, NM_001377459.1:c.*1661_*1662del, NM_001377458.1:c.*1656_*1657del, NM_001377468.1:c.*1661_*1662del, NM_001377465.1:c.*1656_*1657del, NM_001377466.1:c.*1656_*1657del, NM_001377467.1:c.*1656_*1657del, NM_001377460.1:c.*1661_*1662del, NM_001377461.1:c.*1656_*1657del, NM_001377463.1:c.*1656_*1657del, NM_001377462.1:c.*1661_*1662del, NM_001377464.1:c.*1656_*1657del, NM_001377469.1:c.*1656_*1657del, NM_001278203.1:c.*1656_*1657del

Select item 14910700643.

rs1491070064 has merged into rs34333498 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:108951779 (GRCh38)
1:109494401 (GRCh37)
Canonical SPDI:: NC_000001.11:108951766:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:108951766:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:108951766:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:108951766:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:108951766:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:108951766:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:108951766:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:108951766:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:108951766:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108951766:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:108951766:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CLCC1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
T=0.3626/1816 (1000Genomes)
-=0.375/3 (KOREAN)
HGVS:: NC_000001.11:g.108951779_108951784del, NC_000001.11:g.108951780_108951784del, NC_000001.11:g.108951781_108951784del, NC_000001.11:g.108951782_108951784del, NC_000001.11:g.108951783_108951784del, NC_000001.11:g.108951784del, NC_000001.11:g.108951784dup, NC_000001.11:g.108951783_108951784dup, NC_000001.11:g.108951782_108951784dup, NC_000001.11:g.108951781_108951784dup, NC_000001.11:g.108951775_108951784dup, NC_000001.10:g.109494401_109494406del, NC_000001.10:g.109494402_109494406del, NC_000001.10:g.109494403_109494406del, NC_000001.10:g.109494404_109494406del, NC_000001.10:g.109494405_109494406del, NC_000001.10:g.109494406del, NC_000001.10:g.109494406dup, NC_000001.10:g.109494405_109494406dup, NC_000001.10:g.109494404_109494406dup, NC_000001.10:g.109494403_109494406dup, NC_000001.10:g.109494397_109494406dup

Select item 14909331374.

rs1490933137 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:108932883 (GRCh38)
1:109475505 (GRCh37)
Canonical SPDI:: NC_000001.11:108932882:T:C
Gene:: CLCC1 (Varview), GPSM2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
HGVS:: NC_000001.11:g.108932883T>C, NC_000001.10:g.109475505T>C, NG_028108.2:g.62534T>C, NM_013296.5:c.*2943T>C, NM_001321039.3:c.*1606T>C, NM_001321039.2:c.*1606T>C, NM_001321039.1:c.*1606T>C, NM_001321038.2:c.*2943T>C, XM_011541302.4:c.*2943T>C, XM_006710589.4:c.*2943T>C, XM_017001097.3:c.*2943T>C, XM_017001098.3:c.*2943T>C, XM_047418723.1:c.*2943T>C, XM_047418724.1:c.*2943T>C

Select item 14908826785.

rs1490882678 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:108958203 (GRCh38)
1:109500825 (GRCh37)
Canonical SPDI:: NC_000001.11:108958202:A:G
Gene:: CLCC1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.108958203A>G, NC_000001.10:g.109500825A>G

Select item 14908509216.

rs1490850921 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:108956003 (GRCh38)
1:109498625 (GRCh37)
Canonical SPDI:: NC_000001.11:108956002:A:G
Gene:: CLCC1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.108956003A>G, NC_000001.10:g.109498625A>G

Select item 14907664597.

rs1490766459 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:108955933 (GRCh38)
1:109498555 (GRCh37)
Canonical SPDI:: NC_000001.11:108955932:T:G
Gene:: CLCC1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_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_000001.11:g.108955933T>G, NC_000001.10:g.109498555T>G

Select item 14905877878.

rs1490587787 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:108939337 (GRCh38)
1:109481959 (GRCh37)
Canonical SPDI:: NC_000001.11:108939336:T:C
Gene:: CLCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000001.11:g.108939337T>C, NC_000001.10:g.109481959T>C

Select item 14905669789.

rs1490566978 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:108954432 (GRCh38)
1:109497054 (GRCh37)
Canonical SPDI:: NC_000001.11:108954431:G:A
Gene:: CLCC1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.108954432G>A, NC_000001.10:g.109497054G>A

Select item 149053690210.

rs1490536902 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:108938588 (GRCh38)
1:109481210 (GRCh37)
Canonical SPDI:: NC_000001.11:108938587:A:T
Gene:: CLCC1 (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_000001.11:g.108938588A>T, NC_000001.10:g.109481210A>T

Select item 149044838111.

rs1490448381 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:108946426 (GRCh38)
1:109489048 (GRCh37)
Canonical SPDI:: NC_000001.11:108946425:C:G
Gene:: CLCC1 (Varview)
Functional Consequence:: 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_000001.11:g.108946426C>G, NC_000001.10:g.109489048C>G

Select item 149031920012.

rs1490319200 [Homo sapiens]

Variant type:: DEL
Alleles:: GAATTG>- [Show Flanks]
Chromosome:: 1:108947074 (GRCh38)
1:109489696 (GRCh37)
Canonical SPDI:: NC_000001.11:108947073:GAATTG:
Gene:: CLCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.108947074_108947079del, NC_000001.10:g.109489696_109489701del

Select item 149009499813.

rs1490094998 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:108962788 (GRCh38)
1:109505410 (GRCh37)
Canonical SPDI:: NC_000001.11:108962787:T:C,NC_000001.11:108962787:T:G
Gene:: CLCC1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.108962788T>C, NC_000001.11:g.108962788T>G, NC_000001.10:g.109505410T>C, NC_000001.10:g.109505410T>G, NG_076406.1:g.282T>C, NG_076406.1:g.282T>G

Select item 149009194714.

rs1490091947 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:108934167 (GRCh38)
1:109476789 (GRCh37)
Canonical SPDI:: NC_000001.11:108934166:C:T
Gene:: CLCC1 (Varview), GPSM2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.108934167C>T, NC_000001.10:g.109476789C>T, NG_028108.2:g.63818C>T, NM_013296.5:c.*4227C>T, NM_001321039.3:c.*2890C>T, NM_001321039.2:c.*2890C>T, NM_001321039.1:c.*2890C>T, NM_001321038.2:c.*4227C>T, XM_011541302.4:c.*4227C>T, XM_006710589.4:c.*4227C>T, XM_017001097.3:c.*4227C>T, XM_017001098.3:c.*4227C>T, XM_047418723.1:c.*4227C>T, XM_047418724.1:c.*4227C>T

Select item 149004426515.

rs1490044265 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:108961893 (GRCh38)
1:109504515 (GRCh37)
Canonical SPDI:: NC_000001.11:108961892:G:A
Gene:: CLCC1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.108961893G>A, NC_000001.10:g.109504515G>A

Select item 148993309016.

rs1489933090 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:108935429 (GRCh38)
1:109478051 (GRCh37)
Canonical SPDI:: NC_000001.11:108935428:G:A
Gene:: CLCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.108935429G>A, NC_000001.10:g.109478051G>A, NG_028108.2:g.65080G>A

Select item 148976466317.

rs1489764663 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:108951602 (GRCh38)
1:109494224 (GRCh37)
Canonical SPDI:: NC_000001.11:108951601:T:A
Gene:: CLCC1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.108951602T>A, NC_000001.10:g.109494224T>A

Select item 148964653518.

rs1489646535 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:108938017 (GRCh38)
1:109480639 (GRCh37)
Canonical SPDI:: NC_000001.11:108938016:T:G
Gene:: CLCC1 (Varview)
Functional Consequence:: 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_000001.11:g.108938017T>G, NC_000001.10:g.109480639T>G

Select item 148962016619.

rs1489620166 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:108954890 (GRCh38)
1:109497512 (GRCh37)
Canonical SPDI:: NC_000001.11:108954889:T:G
Gene:: CLCC1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000015/2 (GnomAD)
HGVS:: NC_000001.11:g.108954890T>G, NC_000001.10:g.109497512T>G

Select item 148951460020.

rs1489514600 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:108940501 (GRCh38)
1:109483123 (GRCh37)
Canonical SPDI:: NC_000001.11:108940500:C:T
Gene:: CLCC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.108940501C>T, NC_000001.10:g.109483123C>T

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