SNP Links for Gene (Select 221527) - SNP

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Select item 14894848921.

rs1489484892 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 6:31901842 (GRCh38)
6:31869619 (GRCh37)
Canonical SPDI:: NC_000006.12:31901841:C:A,NC_000006.12:31901841:C:G
Gene:: C2 (Varview), ZBTB12 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.31901842C>A, NC_000006.12:g.31901842C>G, NC_000006.11:g.31869619C>A, NC_000006.11:g.31869619C>G, NT_113891.3:g.3379267C>A, NT_113891.3:g.3379267C>G, NT_113891.2:g.3379373C>A, NT_113891.2:g.3379373C>G, NT_167248.2:g.3157815C>A, NT_167248.2:g.3157815C>G, NT_167248.1:g.3163411C>A, NT_167248.1:g.3163411C>G, NT_167245.2:g.3149616C>A, NT_167245.2:g.3149616C>G, NT_167245.1:g.3155201C>A, NT_167245.1:g.3155201C>G, NT_167247.2:g.3243917C>A, NT_167247.2:g.3243917C>G, NT_167247.1:g.3249502C>A, NT_167247.1:g.3249502C>G, NM_181842.3:c.-26G>T, NM_181842.3:c.-26G>C, NM_181842.2:c.-26G>T, NM_181842.2:c.-26G>C

Select item 14887914542.

rs1488791454 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 6:31901620 (GRCh38)
6:31869397 (GRCh37)
Canonical SPDI:: NC_000006.12:31901619:G:A
Gene:: C2 (Varview), ZBTB12 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000043/6 (GnomAD)
A=0.000072/19 (TOPMED)
A=0.001373/4 (KOREAN)
A=0.002372/40 (TOMMO)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000006.12:g.31901620G>A, NC_000006.11:g.31869397G>A, NT_113891.3:g.3379045G>A, NT_113891.2:g.3379151G>A, NT_167248.2:g.3157593G>A, NT_167248.1:g.3163189G>A, NT_167245.2:g.3149394G>A, NT_167245.1:g.3154979G>A, NT_167247.2:g.3243695G>A, NT_167247.1:g.3249280G>A

Select item 14882029253.

rs1488202925 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:31901857 (GRCh38)
6:31869634 (GRCh37)
Canonical SPDI:: NC_000006.12:31901856:G:T
Gene:: C2 (Varview), ZBTB12 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.00011/15 (GnomAD)
HGVS:: NC_000006.12:g.31901857G>T, NC_000006.11:g.31869634G>T, NT_113891.3:g.3379282G>T, NT_113891.2:g.3379388G>T, NT_167248.2:g.3157830G>T, NT_167248.1:g.3163426G>T, NT_167245.2:g.3149631G>T, NT_167245.1:g.3155216G>T, NT_167247.2:g.3243932G>T, NT_167247.1:g.3249517G>T, NM_181842.3:c.-41C>A, NM_181842.2:c.-41C>A

Select item 14877725364.

rs1487772536 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 6:31901952 (GRCh38)
6:31869729 (GRCh37)
Canonical SPDI:: NC_000006.12:31901951:C:A,NC_000006.12:31901951:C:G
Gene:: C2 (Varview), ZBTB12 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000006.12:g.31901952C>A, NC_000006.12:g.31901952C>G, NC_000006.11:g.31869729C>A, NC_000006.11:g.31869729C>G, NT_113891.3:g.3379377C>A, NT_113891.3:g.3379377C>G, NT_113891.2:g.3379483C>A, NT_113891.2:g.3379483C>G, NT_167248.2:g.3157925C>A, NT_167248.2:g.3157925C>G, NT_167248.1:g.3163521C>A, NT_167248.1:g.3163521C>G, NT_167245.2:g.3149726C>A, NT_167245.2:g.3149726C>G, NT_167245.1:g.3155311C>A, NT_167245.1:g.3155311C>G, NT_167247.2:g.3244027C>A, NT_167247.2:g.3244027C>G, NT_167247.1:g.3249612C>A, NT_167247.1:g.3249612C>G, NM_181842.3:c.-136G>T, NM_181842.3:c.-136G>C, NM_181842.2:c.-136G>T, NM_181842.2:c.-136G>C

Select item 14877437065.

rs1487743706 [Homo sapiens]

Variant type:: SNV:
Alleles:: G>C,T
Chromosome:: no mapping
Canonical SPDI:

Select item 14873101206.

rs1487310120 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:31904177 (GRCh38)
6:31871954 (GRCh37)
Canonical SPDI:: NC_000006.12:31904176:A:G
Gene:: C2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000006.12:g.31904177A>G, NC_000006.11:g.31871954A>G, NT_113891.3:g.3381602A>G, NT_113891.2:g.3381708A>G, NT_167248.2:g.3160152A>G, NT_167248.1:g.3165748A>G, NT_167245.2:g.3151951A>G, NT_167245.1:g.3157536A>G, NT_167247.2:g.3246252A>G, NT_167247.1:g.3251837A>G

Select item 14870261447.

rs1487026144 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 6:31902845 (GRCh38)
6:31870622 (GRCh37)
Canonical SPDI:: NC_000006.12:31902844:TTT:TT
Gene:: C2 (Varview), ZBTB12 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.31902847del, NC_000006.11:g.31870624del, NT_113891.3:g.3380272del, NT_113891.2:g.3380378del, NT_167248.2:g.3158822del, NT_167248.1:g.3164418del, NT_167245.2:g.3150621del, NT_167245.1:g.3156206del, NT_167247.2:g.3244922del, NT_167247.1:g.3250507del

Select item 14861177548.

rs1486117754 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31900442 (GRCh38)
6:31868219 (GRCh37)
Canonical SPDI:: NC_000006.12:31900441:C:T
Gene:: C2 (Varview), ZBTB12 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31900442C>T, NC_000006.11:g.31868219C>T, NT_113891.3:g.3377867C>T, NT_113891.2:g.3377973C>T, NT_167248.2:g.3156415C>T, NT_167248.1:g.3162011C>T, NT_167245.2:g.3148216C>T, NT_167245.1:g.3153801C>T, NT_167247.2:g.3242517C>T, NT_167247.1:g.3248102C>T, NM_181842.3:c.864G>A, NM_181842.2:c.864G>A

Select item 14854573999.

rs1485457399 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 6:31901268 (GRCh38)
6:31869045 (GRCh37)
Canonical SPDI:: NC_000006.12:31901267:G:T
Gene:: C2 (Varview), ZBTB12 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31901268G>T, NC_000006.11:g.31869045G>T, NT_113891.3:g.3378693G>T, NT_113891.2:g.3378799G>T, NT_167248.2:g.3157241G>T, NT_167248.1:g.3162837G>T, NT_167245.2:g.3149042G>T, NT_167245.1:g.3154627G>T, NT_167247.2:g.3243343G>T, NT_167247.1:g.3248928G>T, NM_181842.3:c.38C>A, NM_181842.2:c.38C>A, NP_862825.1:p.Pro13His

Select item 148542296210.

rs1485422962 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 6:31902216 (GRCh38)
6:31869993 (GRCh37)
Canonical SPDI:: NC_000006.12:31902215:A:G
Gene:: C2 (Varview), ZBTB12 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.31902216A>G, NC_000006.11:g.31869993A>G, NT_113891.3:g.3379641A>G, NT_113891.2:g.3379747A>G, NT_167248.2:g.3158191A>G, NT_167248.1:g.3163787A>G, NT_167245.2:g.3149990A>G, NT_167245.1:g.3155575A>G, NT_167247.2:g.3244291A>G, NT_167247.1:g.3249876A>G

Select item 148529028411.

rs1485290284 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 6:31903411 (GRCh38)
6:31871188 (GRCh37)
Canonical SPDI:: NC_000006.12:31903410:CC:
Gene:: C2 (Varview), ZBTB12 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000006.12:g.31903411_31903412del, NC_000006.11:g.31871188_31871189del, NT_113891.3:g.3380836_3380837del, NT_113891.2:g.3380942_3380943del, NT_167248.2:g.3159386_3159387del, NT_167248.1:g.3164982_3164983del, NT_167245.2:g.3151185_3151186del, NT_167245.1:g.3156770_3156771del, NT_167247.2:g.3245486_3245487del, NT_167247.1:g.3251071_3251072del

Select item 148518953012.

rs1485189530 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 6:31902351 (GRCh38)
6:31870128 (GRCh37)
Canonical SPDI:: NC_000006.12:31902350:A:
Gene:: C2 (Varview), ZBTB12 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000006.12:g.31902351del, NC_000006.11:g.31870128del, NT_113891.3:g.3379776del, NT_113891.2:g.3379882del, NT_167248.2:g.3158326del, NT_167248.1:g.3163922del, NT_167245.2:g.3150125del, NT_167245.1:g.3155710del, NT_167247.2:g.3244426del, NT_167247.1:g.3250011del

Select item 148408944713.

rs1484089447 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31899947 (GRCh38)
6:31867724 (GRCh37)
Canonical SPDI:: NC_000006.12:31899946:C:T
Gene:: C2 (Varview), ZBTB12 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31899947C>T, NC_000006.11:g.31867724C>T, NT_113891.3:g.3377372C>T, NT_113891.2:g.3377478C>T, NT_167248.2:g.3155920C>T, NT_167248.1:g.3161516C>T, NT_167245.2:g.3147721C>T, NT_167245.1:g.3153306C>T, NT_167247.2:g.3242022C>T, NT_167247.1:g.3247607C>T, NM_181842.3:c.1359G>A, NM_181842.2:c.1359G>A

Select item 148335797514.

rs1483357975 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 6:31902124 (GRCh38)
6:31869901 (GRCh37)
Canonical SPDI:: NC_000006.12:31902123:G:C,NC_000006.12:31902123:G:T
Gene:: C2 (Varview), ZBTB12 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
C=0.01898/52 (KOREAN)
HGVS:: NC_000006.12:g.31902124G>C, NC_000006.12:g.31902124G>T, NC_000006.11:g.31869901G>C, NC_000006.11:g.31869901G>T, NT_113891.3:g.3379549G>C, NT_113891.3:g.3379549G>T, NT_113891.2:g.3379655G>C, NT_113891.2:g.3379655G>T, NT_167248.2:g.3158099G>C, NT_167248.2:g.3158099G>T, NT_167248.1:g.3163695G>C, NT_167248.1:g.3163695G>T, NT_167245.2:g.3149898G>C, NT_167245.2:g.3149898G>T, NT_167245.1:g.3155483G>C, NT_167245.1:g.3155483G>T, NT_167247.2:g.3244199G>C, NT_167247.2:g.3244199G>T, NT_167247.1:g.3249784G>C, NT_167247.1:g.3249784G>T

Select item 148313578015.

rs1483135780 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31900607 (GRCh38)
6:31868384 (GRCh37)
Canonical SPDI:: NC_000006.12:31900606:C:T
Gene:: C2 (Varview), ZBTB12 (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,synonymous_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.31900607C>T, NC_000006.11:g.31868384C>T, NT_113891.3:g.3378032C>T, NT_113891.2:g.3378138C>T, NT_167248.2:g.3156580C>T, NT_167248.1:g.3162176C>T, NT_167245.2:g.3148381C>T, NT_167245.1:g.3153966C>T, NT_167247.2:g.3242682C>T, NT_167247.1:g.3248267C>T, NM_181842.3:c.699G>A, NM_181842.2:c.699G>A

Select item 148306316616.

rs1483063166 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTA>- [Show Flanks]
Chromosome:: 6:31904329 (GRCh38)
6:31872106 (GRCh37)
Canonical SPDI:: NC_000006.12:31904323:ATTTATTTA:ATTTA
Gene:: C2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: ATTTA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.31904325TTTA[1], NC_000006.11:g.31872102TTTA[1], NT_113891.3:g.3381750TTTA[1], NT_113891.2:g.3381856TTTA[1], NT_167248.2:g.3160300TTTA[1], NT_167248.1:g.3165896TTTA[1], NT_167245.2:g.3152099TTTA[1], NT_167245.1:g.3157684TTTA[1], NT_167247.2:g.3246400TTTA[1], NT_167247.1:g.3251985TTTA[1]

Select item 148173517017.

rs1481735170 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 6:31901092 (GRCh38)
6:31868869 (GRCh37)
Canonical SPDI:: NC_000006.12:31901091:C:T
Gene:: C2 (Varview), ZBTB12 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000006.12:g.31901092C>T, NC_000006.11:g.31868869C>T, NT_113891.3:g.3378517C>T, NT_113891.2:g.3378623C>T, NT_167248.2:g.3157065C>T, NT_167248.1:g.3162661C>T, NT_167245.2:g.3148866C>T, NT_167245.1:g.3154451C>T, NT_167247.2:g.3243167C>T, NT_167247.1:g.3248752C>T, NM_001178063.3:c.26C>T, NM_001178063.2:c.26C>T, NM_001178063.1:c.26C>T, NM_181842.3:c.214G>A, NM_181842.2:c.214G>A, NP_001171534.1:p.Thr9Ile, NP_862825.1:p.Val72Ile

Select item 148080827118.

rs1480808271 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 6:31900776 (GRCh38)
6:31868553 (GRCh37)
Canonical SPDI:: NC_000006.12:31900775:A:G,NC_000006.12:31900775:A:T
Gene:: C2 (Varview), ZBTB12 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000008/1 (GnomAD)
T=0.000071/2 (TOMMO)
HGVS:: NC_000006.12:g.31900776A>G, NC_000006.12:g.31900776A>T, NC_000006.11:g.31868553A>G, NC_000006.11:g.31868553A>T, NT_113891.3:g.3378201A>G, NT_113891.3:g.3378201A>T, NT_113891.2:g.3378307A>G, NT_113891.2:g.3378307A>T, NT_167248.2:g.3156749A>G, NT_167248.2:g.3156749A>T, NT_167248.1:g.3162345A>G, NT_167248.1:g.3162345A>T, NT_167245.2:g.3148550A>G, NT_167245.2:g.3148550A>T, NT_167245.1:g.3154135A>G, NT_167245.1:g.3154135A>T, NT_167247.2:g.3242851A>G, NT_167247.2:g.3242851A>T, NT_167247.1:g.3248436A>G, NT_167247.1:g.3248436A>T, NM_181842.3:c.530T>C, NM_181842.3:c.530T>A, NM_181842.2:c.530T>C, NM_181842.2:c.530T>A, NP_862825.1:p.Leu177Pro, NP_862825.1:p.Leu177Gln

Select item 147980825119.

rs1479808251 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 6:31901150 (GRCh38)
6:31868927 (GRCh37)
Canonical SPDI:: NC_000006.12:31901149:G:C
Gene:: C2 (Varview), ZBTB12 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,coding_sequence_variant,synonymous_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000006.12:g.31901150G>C, NC_000006.11:g.31868927G>C, NT_113891.3:g.3378575G>C, NT_113891.2:g.3378681G>C, NT_167248.2:g.3157123G>C, NT_167248.1:g.3162719G>C, NT_167245.2:g.3148924G>C, NT_167245.1:g.3154509G>C, NT_167247.2:g.3243225G>C, NT_167247.1:g.3248810G>C, NM_181842.3:c.156C>G, NM_181842.2:c.156C>G

Select item 147967950320.

rs1479679503 [Homo sapiens]

Variant type:: DELINS
Alleles:: AACA>- [Show Flanks]
Chromosome:: 6:31898708 (GRCh38)
6:31866485 (GRCh37)
Canonical SPDI:: NC_000006.12:31898705:CAAACA:CA
Gene:: C2 (Varview), EHMT2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CA=0.000071/1 (ALFA)
-=0.000023/6 (TOPMED)
-=0.000036/5 (GnomAD)
HGVS:: NC_000006.12:g.31898708_31898711del, NC_000006.11:g.31866485_31866488del, NT_113891.3:g.3376133_3376136del, NT_113891.2:g.3376239_3376242del, NT_167248.2:g.3154680_3154683del, NT_167248.1:g.3160276_3160279del, NT_167245.2:g.3146482_3146485del, NT_167245.1:g.3152067_3152070del, NT_167247.2:g.3240782_3240785del, NT_167247.1:g.3246367_3246370del

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