SNP Links for Gene (Select 401647) - SNP

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Select item 14915199901.

rs1491519990 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TCACACACACACAC [Show Flanks]
Chromosome:: 10:97857363 (GRCh38)
10:99617121 (GRCh37)
Canonical SPDI:: NC_000010.11:97857363:CACACACACACAC:CACACACACACACTCACACACACACAC
Gene:: GOLGA7B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CACACACACACACTCACACACACACAC=0./0 (ALFA)
CACACACACACACT=0.00006/1 (GnomAD)
HGVS:: NC_000010.11:g.97857364_97857376CA[6]CTCACACACACACAC[1], NC_000010.10:g.99617121_99617133CA[6]CTCACACACACACAC[1]

Select item 14914821912.

rs1491482191 has merged into rs60908270 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACACACACACA>-,CA,CACA,CACACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 10:97857384 (GRCh38)
10:99617141 (GRCh37)
Canonical SPDI:: NC_000010.11:97857362:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACA,NC_000010.11:97857362:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACA,NC_000010.11:97857362:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACA,NC_000010.11:97857362:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACA,NC_000010.11:97857362:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACA,NC_000010.11:97857362:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACA,NC_000010.11:97857362:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACA,NC_000010.11:97857362:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACA,NC_000010.11:97857362:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACA,NC_000010.11:97857362:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACA,NC_000010.11:97857362:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:97857362:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:97857362:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:97857362:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:97857362:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:97857362:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:97857362:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:97857362:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:97857362:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA,NC_000010.11:97857362:ACACACACACACACACACACACACACACACACACACACACACA:ACACACACACACACACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: GOLGA7B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACACACACACA=0./0 (ALFA)
-=0.3435/1720 (1000Genomes)
HGVS:: NC_000010.11:g.97857364CA[10], NC_000010.11:g.97857364CA[11], NC_000010.11:g.97857364CA[12], NC_000010.11:g.97857364CA[13], NC_000010.11:g.97857364CA[14], NC_000010.11:g.97857364CA[15], NC_000010.11:g.97857364CA[16], NC_000010.11:g.97857364CA[17], NC_000010.11:g.97857364CA[18], NC_000010.11:g.97857364CA[19], NC_000010.11:g.97857364CA[20], NC_000010.11:g.97857364CA[22], NC_000010.11:g.97857364CA[23], NC_000010.11:g.97857364CA[24], NC_000010.11:g.97857364CA[25], NC_000010.11:g.97857364CA[26], NC_000010.11:g.97857364CA[27], NC_000010.11:g.97857364CA[28], NC_000010.11:g.97857364CA[29], NC_000010.11:g.97857364CA[30], NC_000010.10:g.99617121CA[10], NC_000010.10:g.99617121CA[11], NC_000010.10:g.99617121CA[12], NC_000010.10:g.99617121CA[13], NC_000010.10:g.99617121CA[14], NC_000010.10:g.99617121CA[15], NC_000010.10:g.99617121CA[16], NC_000010.10:g.99617121CA[17], NC_000010.10:g.99617121CA[18], NC_000010.10:g.99617121CA[19], NC_000010.10:g.99617121CA[20], NC_000010.10:g.99617121CA[22], NC_000010.10:g.99617121CA[23], NC_000010.10:g.99617121CA[24], NC_000010.10:g.99617121CA[25], NC_000010.10:g.99617121CA[26], NC_000010.10:g.99617121CA[27], NC_000010.10:g.99617121CA[28], NC_000010.10:g.99617121CA[29], NC_000010.10:g.99617121CA[30]

Select item 14910619243.

rs1491061924 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 10:97866676 (GRCh38)
10:99626433 (GRCh37)
Canonical SPDI:: NC_000010.11:97866675:CT:
Gene:: CRTAC1 (Varview), GOLGA7B (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.97866676_97866677del, NC_000010.10:g.99626433_99626434del, NG_029831.1:g.169152_169153del, NM_001010917.3:c.*976_*977del, NM_001010917.2:c.*976_*977del

Select item 14910515694.

rs1491051569 has merged into rs564025755 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 10:97850873 (GRCh38)
10:99610630 (GRCh37)
Canonical SPDI:: NC_000010.11:97850860:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:97850860:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:97850860:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:97850860:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:97850860:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:97850860:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:97850860:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:97850860:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: GOLGA7B (Varview), GOLGA7B-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
T=0.01167/7 (NorthernSweden)
-=0.15076/755 (1000Genomes)
T=0.225/9 (GENOME_DK)
HGVS:: NC_000010.11:g.97850873_97850876del, NC_000010.11:g.97850874_97850876del, NC_000010.11:g.97850875_97850876del, NC_000010.11:g.97850876del, NC_000010.11:g.97850876dup, NC_000010.11:g.97850875_97850876dup, NC_000010.11:g.97850874_97850876dup, NC_000010.11:g.97850873_97850876dup, NC_000010.10:g.99610630_99610633del, NC_000010.10:g.99610631_99610633del, NC_000010.10:g.99610632_99610633del, NC_000010.10:g.99610633del, NC_000010.10:g.99610633dup, NC_000010.10:g.99610632_99610633dup, NC_000010.10:g.99610631_99610633dup, NC_000010.10:g.99610630_99610633dup

Select item 14908763295.

rs1490876329 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:97863122 (GRCh38)
10:99622879 (GRCh37)
Canonical SPDI:: NC_000010.11:97863121:G:T
Gene:: GOLGA7B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000010.11:g.97863122G>T, NC_000010.10:g.99622879G>T, NG_029831.1:g.172707C>A

Select item 14905078626.

rs1490507862 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:97870667 (GRCh38)
10:99630424 (GRCh37)
Canonical SPDI:: NC_000010.11:97870666:T:C
Gene:: CRTAC1 (Varview), GOLGA7B (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.97870667T>C, NC_000010.10:g.99630424T>C, NG_029831.1:g.165162A>G, NM_001010917.3:c.*4967T>C, NM_001010917.2:c.*4967T>C

Select item 14904956837.

rs1490495683 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:97866054 (GRCh38)
10:99625811 (GRCh37)
Canonical SPDI:: NC_000010.11:97866053:G:A
Gene:: CRTAC1 (Varview), GOLGA7B (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000066/1 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000035/1 (TOMMO)
A=0.000223/1 (Estonian)
HGVS:: NC_000010.11:g.97866054G>A, NC_000010.10:g.99625811G>A, NG_029831.1:g.169775C>T, NM_001010917.3:c.*354G>A, NM_001010917.2:c.*354G>A

Select item 14904579648.

rs1490457964 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:97853358 (GRCh38)
10:99613115 (GRCh37)
Canonical SPDI:: NC_000010.11:97853357:G:A
Gene:: GOLGA7B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.97853358G>A, NC_000010.10:g.99613115G>A

Select item 14901478249.

rs1490147824 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,T [Show Flanks]
Chromosome:: 10:97870541 (GRCh38)
10:99630298 (GRCh37)
Canonical SPDI:: NC_000010.11:97870540:A:C,NC_000010.11:97870540:A:T
Gene:: CRTAC1 (Varview), GOLGA7B (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.97870541A>C, NC_000010.11:g.97870541A>T, NC_000010.10:g.99630298A>C, NC_000010.10:g.99630298A>T, NG_029831.1:g.165288T>G, NG_029831.1:g.165288T>A, NM_001010917.3:c.*4841A>C, NM_001010917.3:c.*4841A>T, NM_001010917.2:c.*4841A>C, NM_001010917.2:c.*4841A>T

Select item 148996263310.

rs1489962633 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:97852669 (GRCh38)
10:99612426 (GRCh37)
Canonical SPDI:: NC_000010.11:97852668:G:A
Gene:: GOLGA7B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.97852669G>A, NC_000010.10:g.99612426G>A

Select item 148994809711.

rs1489948097 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 10:97850137 (GRCh38)
10:99609894 (GRCh37)
Canonical SPDI:: NC_000010.11:97850136:C:A,NC_000010.11:97850136:C:T
Gene:: GOLGA7B (Varview), GOLGA7B-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000010.11:g.97850137C>A, NC_000010.11:g.97850137C>T, NC_000010.10:g.99609894C>A, NC_000010.10:g.99609894C>T, NM_001010917.3:c.-167C>A, NM_001010917.3:c.-167C>T

Select item 148976609612.

rs1489766096 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:97860560 (GRCh38)
10:99620317 (GRCh37)
Canonical SPDI:: NC_000010.11:97860559:C:T
Gene:: GOLGA7B (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_000010.11:g.97860560C>T, NC_000010.10:g.99620317C>T

Select item 148969497213.

rs1489694972 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:97862149 (GRCh38)
10:99621906 (GRCh37)
Canonical SPDI:: NC_000010.11:97862148:A:G
Gene:: GOLGA7B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.97862149A>G, NC_000010.10:g.99621906A>G

Select item 148963484714.

rs1489634847 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:97862435 (GRCh38)
10:99622192 (GRCh37)
Canonical SPDI:: NC_000010.11:97862434:C:T
Gene:: GOLGA7B (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000010.11:g.97862435C>T, NC_000010.10:g.99622192C>T

Select item 148934774515.

rs1489347745 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:97850262 (GRCh38)
10:99610019 (GRCh37)
Canonical SPDI:: NC_000010.11:97850261:C:T
Gene:: GOLGA7B (Varview), GOLGA7B-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000010.11:g.97850262C>T, NC_000010.10:g.99610019C>T, NM_001010917.3:c.-42C>T, NM_001010917.2:c.-42C>T

Select item 148924179216.

rs1489241792 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:97868034 (GRCh38)
10:99627791 (GRCh37)
Canonical SPDI:: NC_000010.11:97868033:C:T
Gene:: CRTAC1 (Varview), GOLGA7B (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,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_000010.11:g.97868034C>T, NC_000010.10:g.99627791C>T, NG_029831.1:g.167795G>A, NM_001010917.3:c.*2334C>T, NM_001010917.2:c.*2334C>T

Select item 148922985517.

rs1489229855 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 10:97868772 (GRCh38)
10:99628529 (GRCh37)
Canonical SPDI:: NC_000010.11:97868771:G:T
Gene:: CRTAC1 (Varview), GOLGA7B (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.97868772G>T, NC_000010.10:g.99628529G>T, NG_029831.1:g.167057C>A, NM_001010917.3:c.*3072G>T, NM_001010917.2:c.*3072G>T

Select item 148891581318.

rs1488915813 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 10:97850356 (GRCh38)
10:99610113 (GRCh37)
Canonical SPDI:: NC_000010.11:97850355:C:G
Gene:: GOLGA7B (Varview), GOLGA7B-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000010.11:g.97850356C>G, NC_000010.10:g.99610113C>G

Select item 148890030919.

rs1488900309 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:97868204 (GRCh38)
10:99627961 (GRCh37)
Canonical SPDI:: NC_000010.11:97868203:A:G
Gene:: CRTAC1 (Varview), GOLGA7B (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_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_000010.11:g.97868204A>G, NC_000010.10:g.99627961A>G, NG_029831.1:g.167625T>C, NM_001010917.3:c.*2504A>G, NM_001010917.2:c.*2504A>G

Select item 148882990020.

rs1488829900 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:97868351 (GRCh38)
10:99628108 (GRCh37)
Canonical SPDI:: NC_000010.11:97868350:C:T
Gene:: CRTAC1 (Varview), GOLGA7B (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.97868351C>T, NC_000010.10:g.99628108C>T, NG_029831.1:g.167478G>A, NM_001010917.3:c.*2651C>T, NM_001010917.2:c.*2651C>T

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