SNP Links for Gene (Select 100287082) - SNP

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Select item 14913627281.

rs1491362728 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 18:8697058 (GRCh38)
18:8697057 (GRCh37)
Canonical SPDI:: NC_000018.10:8697058:C:CC
Gene:: GACAT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000009/1 (GnomAD)
HGVS:: NC_000018.10:g.8697059dup, NC_000018.9:g.8697057dup

Select item 14913332152.

rs1491333215 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 18:8697059 (GRCh38)
18:8697057 (GRCh37)
Canonical SPDI:: NC_000018.10:8697057:TCT:T
Gene:: GACAT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.8697059_8697060del, NC_000018.9:g.8697057_8697058del

Select item 14907238553.

rs1490723855 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:8707760 (GRCh38)
18:8707758 (GRCh37)
Canonical SPDI:: NC_000018.10:8707759:A:G
Gene:: MTCL1 (Varview), GACAT2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.8707760A>G, NC_000018.9:g.8707758A>G, XM_017025674.3:c.-404A>G, XM_017025674.2:c.-404A>G

Select item 14906495424.

rs1490649542 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 18:8705749 (GRCh38)
18:8705747 (GRCh37)
Canonical SPDI:: NC_000018.10:8705748:A:T
Gene:: MTCL1 (Varview), GACAT2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000018.10:g.8705749A>T, NC_000018.9:g.8705747A>T, XM_011525640.4:c.89A>T, XM_011525640.2:c.89A>T, XM_011525640.1:c.89A>T, XM_024451115.2:c.89A>T, XM_024451110.2:c.89A>T, XM_024451111.2:c.89A>T, XM_024451112.2:c.89A>T, XM_024451113.2:c.89A>T, XM_024451114.2:c.89A>T, XM_024451117.2:c.89A>T, XM_024451118.2:c.89A>T, XM_024451124.2:c.89A>T, XR_002958167.2:n.194A>T, NM_001378206.1:c.89A>T, NM_001395333.1:c.89A>T, XM_047437394.1:c.89A>T, XM_047437395.1:c.89A>T, XM_047437396.1:c.89A>T, NM_001378205.1:c.89A>T, NM_001378207.1:c.89A>T, XM_047437397.1:c.89A>T, XM_047437399.1:c.89A>T, XM_047437393.1:c.89A>T, XM_047437398.1:c.89A>T, XM_047437400.1:c.89A>T, XR_007066128.1:n.194A>T, XP_011523942.3:p.His30Leu, XP_024306883.2:p.His30Leu, XP_024306878.2:p.His30Leu, XP_024306879.2:p.His30Leu, XP_024306880.2:p.His30Leu, XP_024306881.2:p.His30Leu, XP_024306882.2:p.His30Leu, XP_024306885.2:p.His30Leu, XP_024306886.2:p.His30Leu, XP_024306892.2:p.His30Leu, NP_001365135.1:p.His30Leu, NP_001382262.1:p.His30Leu, XP_047293350.1:p.His30Leu, XP_047293351.1:p.His30Leu, XP_047293352.1:p.His30Leu, NP_001365134.1:p.His30Leu, NP_001365136.1:p.His30Leu, XP_047293353.1:p.His30Leu, XP_047293355.1:p.His30Leu, XP_047293349.1:p.His30Leu, XP_047293354.1:p.His30Leu, XP_047293356.1:p.His30Leu

Select item 14903930715.

rs1490393071 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:8700324 (GRCh38)
18:8700322 (GRCh37)
Canonical SPDI:: NC_000018.10:8700323:G:A
Gene:: GACAT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.8700324G>A, NC_000018.9:g.8700322G>A

Select item 14902271566.

rs1490227156 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:8707327 (GRCh38)
18:8707325 (GRCh37)
Canonical SPDI:: NC_000018.10:8707326:G:A
Gene:: MTCL1 (Varview), GACAT2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000071/2 (TOMMO)
HGVS:: NC_000018.10:g.8707327G>A, NC_000018.9:g.8707325G>A, XM_017025674.3:c.-837G>A, XM_017025674.2:c.-837G>A, NR_120598.1:n.295C>T

Select item 14900709397.

rs1490070939 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 18:8706957 (GRCh38)
18:8706955 (GRCh37)
Canonical SPDI:: NC_000018.10:8706956:G:A,NC_000018.10:8706956:G:T
Gene:: MTCL1 (Varview), GACAT2 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.8706957G>A, NC_000018.10:g.8706957G>T, NC_000018.9:g.8706955G>A, NC_000018.9:g.8706955G>T, XM_017025671.3:c.-183G>A, XM_017025671.3:c.-183G>T, XM_017025671.2:c.-183G>A, XM_017025671.2:c.-183G>T, XM_017025671.1:c.-183G>A, XM_017025671.1:c.-183G>T

Select item 14899016868.

rs1489901686 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TATAAT [Show Flanks]
Chromosome:: 18:8700679 (GRCh38)
18:8700678 (GRCh37)
Canonical SPDI:: NC_000018.10:8700679:ATAAT:ATAATTATAAT
Gene:: GACAT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATAATTATAAT=0./0 (ALFA)
ATAATT=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.8700684_8700685insTATAAT, NC_000018.9:g.8700682_8700683insTATAAT

Select item 14897846009.

rs1489784600 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 18:8701682 (GRCh38)
18:8701680 (GRCh37)
Canonical SPDI:: NC_000018.10:8701681:T:C
Gene:: GACAT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.8701682T>C, NC_000018.9:g.8701680T>C

Select item 148945801810.

rs1489458018 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 18:8702016 (GRCh38)
18:8702014 (GRCh37)
Canonical SPDI:: NC_000018.10:8702015:G:C,NC_000018.10:8702015:G:T
Gene:: GACAT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0./0 (GnomAD)
T=0.000004/1 (TOPMED)
C=0.000156/1 (1000Genomes)
HGVS:: NC_000018.10:g.8702016G>C, NC_000018.10:g.8702016G>T, NC_000018.9:g.8702014G>C, NC_000018.9:g.8702014G>T

Select item 148927459611.

rs1489274596 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:8696281 (GRCh38)
18:8696279 (GRCh37)
Canonical SPDI:: NC_000018.10:8696280:G:A
Gene:: GACAT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000018.10:g.8696281G>A, NC_000018.9:g.8696279G>A

Select item 148927442912.

rs1489274429 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:8705845 (GRCh38)
18:8705843 (GRCh37)
Canonical SPDI:: NC_000018.10:8705844:C:T
Gene:: MTCL1 (Varview), GACAT2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00016/1 (1000Genomes)
HGVS:: NC_000018.10:g.8705845C>T, NC_000018.9:g.8705843C>T, XM_011525640.4:c.185C>T, XM_011525640.2:c.185C>T, XM_011525640.1:c.185C>T, XM_024451115.2:c.185C>T, XM_024451110.2:c.185C>T, XM_024451111.2:c.185C>T, XM_024451112.2:c.185C>T, XM_024451113.2:c.185C>T, XM_024451114.2:c.185C>T, XM_024451117.2:c.185C>T, XM_024451118.2:c.185C>T, XM_024451124.2:c.185C>T, XR_002958167.2:n.290C>T, NM_001378206.1:c.185C>T, NM_001395333.1:c.185C>T, XM_047437394.1:c.185C>T, XM_047437395.1:c.185C>T, XM_047437396.1:c.185C>T, NM_001378205.1:c.185C>T, NM_001378207.1:c.185C>T, XM_047437397.1:c.185C>T, XM_047437399.1:c.185C>T, XM_047437393.1:c.185C>T, XM_047437398.1:c.185C>T, XM_047437400.1:c.185C>T, XR_007066128.1:n.290C>T, XP_011523942.3:p.Ala62Val, XP_024306883.2:p.Ala62Val, XP_024306878.2:p.Ala62Val, XP_024306879.2:p.Ala62Val, XP_024306880.2:p.Ala62Val, XP_024306881.2:p.Ala62Val, XP_024306882.2:p.Ala62Val, XP_024306885.2:p.Ala62Val, XP_024306886.2:p.Ala62Val, XP_024306892.2:p.Ala62Val, NP_001365135.1:p.Ala62Val, NP_001382262.1:p.Ala62Val, XP_047293350.1:p.Ala62Val, XP_047293351.1:p.Ala62Val, XP_047293352.1:p.Ala62Val, NP_001365134.1:p.Ala62Val, NP_001365136.1:p.Ala62Val, XP_047293353.1:p.Ala62Val, XP_047293355.1:p.Ala62Val, XP_047293349.1:p.Ala62Val, XP_047293354.1:p.Ala62Val, XP_047293356.1:p.Ala62Val

Select item 148922464613.

rs1489224646 has merged into rs1404683868 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCCTCGCCGCG>-,CCCCTCGCCGCGCCCCTCGCCGCG [Show Flanks]
Chromosome:: 18:8706477 (GRCh38)
18:8706475 (GRCh37)
Canonical SPDI:: NC_000018.10:8706466:CCTCGCCGCGCCCCTCGCCGCG:CCTCGCCGCG,NC_000018.10:8706466:CCTCGCCGCGCCCCTCGCCGCG:CCTCGCCGCGCCCCTCGCCGCGCCCCTCGCCGCG
Gene:: MTCL1 (Varview), GACAT2 (Varview)
Functional Consequence:: inframe_insertion,genic_upstream_transcript_variant,non_coding_transcript_variant,coding_sequence_variant,inframe_deletion,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCTCGCCGCGCCCCTCGCCGCGCCCCTCGCCGCG=0./0 (ALFA)
-=0.000122/17 (GnomAD)
-=0.000312/2 (1000Genomes)
-=0.001062/18 (TOMMO)
HGVS:: NC_000018.10:g.8706477_8706488del, NC_000018.10:g.8706477_8706488dup, NC_000018.9:g.8706475_8706486del, NC_000018.9:g.8706475_8706486dup, XM_011525640.4:c.817_828del, XM_011525640.4:c.817_828dup, XM_011525640.2:c.817_828del, XM_011525640.2:c.817_828dup, XM_011525640.1:c.817_828del, XM_011525640.1:c.817_828dup, XM_024451115.2:c.817_828del, XM_024451115.2:c.817_828dup, XM_024451110.2:c.817_828del, XM_024451110.2:c.817_828dup, XM_024451111.2:c.817_828del, XM_024451111.2:c.817_828dup, XM_024451112.2:c.817_828del, XM_024451112.2:c.817_828dup, XM_024451113.2:c.817_828del, XM_024451113.2:c.817_828dup, XM_024451114.2:c.817_828del, XM_024451114.2:c.817_828dup, XM_024451117.2:c.817_828del, XM_024451117.2:c.817_828dup, XM_024451118.2:c.817_828del, XM_024451118.2:c.817_828dup, XM_024451124.2:c.817_828del, XM_024451124.2:c.817_828dup, XR_002958167.2:n.922_933del, XR_002958167.2:n.922_933dup, NM_001378206.1:c.817_828del, NM_001378206.1:c.817_828dup, NM_001395333.1:c.817_828del, NM_001395333.1:c.817_828dup, XM_047437394.1:c.817_828del, XM_047437394.1:c.817_828dup, XM_047437395.1:c.817_828del, XM_047437395.1:c.817_828dup, XM_047437396.1:c.817_828del, XM_047437396.1:c.817_828dup, NM_001378205.1:c.817_828del, NM_001378205.1:c.817_828dup, NM_001378207.1:c.817_828del, NM_001378207.1:c.817_828dup, XM_047437397.1:c.817_828del, XM_047437397.1:c.817_828dup, XM_047437399.1:c.817_828del, XM_047437399.1:c.817_828dup, XM_047437393.1:c.817_828del, XM_047437393.1:c.817_828dup, XM_047437398.1:c.817_828del, XM_047437398.1:c.817_828dup, XM_047437400.1:c.817_828del, XM_047437400.1:c.817_828dup, XR_007066128.1:n.922_933del, XR_007066128.1:n.922_933dup, XP_011523942.3:p.Pro273_Ala276del, XP_011523942.3:p.Pro273_Ala276dup, XP_024306883.2:p.Pro273_Ala276del, XP_024306883.2:p.Pro273_Ala276dup, XP_024306878.2:p.Pro273_Ala276del, XP_024306878.2:p.Pro273_Ala276dup, XP_024306879.2:p.Pro273_Ala276del, XP_024306879.2:p.Pro273_Ala276dup, XP_024306880.2:p.Pro273_Ala276del, XP_024306880.2:p.Pro273_Ala276dup, XP_024306881.2:p.Pro273_Ala276del, XP_024306881.2:p.Pro273_Ala276dup, XP_024306882.2:p.Pro273_Ala276del, XP_024306882.2:p.Pro273_Ala276dup, XP_024306885.2:p.Pro273_Ala276del, XP_024306885.2:p.Pro273_Ala276dup, XP_024306886.2:p.Pro273_Ala276del, XP_024306886.2:p.Pro273_Ala276dup, XP_024306892.2:p.Pro273_Ala276del, XP_024306892.2:p.Pro273_Ala276dup, NP_001365135.1:p.Pro273_Ala276del, NP_001365135.1:p.Pro273_Ala276dup, NP_001382262.1:p.Pro273_Ala276del, NP_001382262.1:p.Pro273_Ala276dup, XP_047293350.1:p.Pro273_Ala276del, XP_047293350.1:p.Pro273_Ala276dup, XP_047293351.1:p.Pro273_Ala276del, XP_047293351.1:p.Pro273_Ala276dup, XP_047293352.1:p.Pro273_Ala276del, XP_047293352.1:p.Pro273_Ala276dup, NP_001365134.1:p.Pro273_Ala276del, NP_001365134.1:p.Pro273_Ala276dup, NP_001365136.1:p.Pro273_Ala276del, NP_001365136.1:p.Pro273_Ala276dup, XP_047293353.1:p.Pro273_Ala276del, XP_047293353.1:p.Pro273_Ala276dup, XP_047293355.1:p.Pro273_Ala276del, XP_047293355.1:p.Pro273_Ala276dup, XP_047293349.1:p.Pro273_Ala276del, XP_047293349.1:p.Pro273_Ala276dup, XP_047293354.1:p.Pro273_Ala276del, XP_047293354.1:p.Pro273_Ala276dup, XP_047293356.1:p.Pro273_Ala276del, XP_047293356.1:p.Pro273_Ala276dup

Select item 148909994214.

rs1489099942 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:8699458 (GRCh38)
18:8699456 (GRCh37)
Canonical SPDI:: NC_000018.10:8699457:G:A
Gene:: GACAT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000018.10:g.8699458G>A, NC_000018.9:g.8699456G>A

Select item 148905315615.

rs1489053156 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:8703299 (GRCh38)
18:8703297 (GRCh37)
Canonical SPDI:: NC_000018.10:8703298:G:A
Gene:: GACAT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000054/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000036/5 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000018.10:g.8703299G>A, NC_000018.9:g.8703297G>A

Select item 148893276316.

rs1488932763 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 18:8707418 (GRCh38)
18:8707416 (GRCh37)
Canonical SPDI:: NC_000018.10:8707417:T:A
Gene:: MTCL1 (Varview), GACAT2 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,non_coding_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000018.10:g.8707418T>A, NC_000018.9:g.8707416T>A, XM_017025674.3:c.-746T>A, XM_017025674.2:c.-746T>A, NR_120598.1:n.204A>T

Select item 148872289017.

rs1488722890 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 18:8702379 (GRCh38)
18:8702377 (GRCh37)
Canonical SPDI:: NC_000018.10:8702378:G:T
Gene:: GACAT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.01585/188 (ALFA)
T=0.0429/125 (KOREAN)
HGVS:: NC_000018.10:g.8702379G>T, NC_000018.9:g.8702377G>T

Select item 148866986318.

rs1488669863 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 18:8700219 (GRCh38)
18:8700217 (GRCh37)
Canonical SPDI:: NC_000018.10:8700218:C:A
Gene:: GACAT2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000022/3 (GnomAD)
HGVS:: NC_000018.10:g.8700219C>A, NC_000018.9:g.8700217C>A

Select item 148812140619.

rs1488121406 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 18:8699961 (GRCh38)
18:8699959 (GRCh37)
Canonical SPDI:: NC_000018.10:8699960:C:T
Gene:: GACAT2 (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_000018.10:g.8699961C>T, NC_000018.9:g.8699959C>T

Select item 148807564220.

rs1488075642 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 18:8704288 (GRCh38)
18:8704286 (GRCh37)
Canonical SPDI:: NC_000018.10:8704287:T:G
Gene:: MTCL1 (Varview), GACAT2 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000018.10:g.8704288T>G, NC_000018.9:g.8704286T>G

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