SNP Links for Gene (Select 5438) - SNP

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Select item 14913679261.

rs1491367926 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 19:36114120 (GRCh38)
19:36605022 (GRCh37)
Canonical SPDI:: NC_000019.10:36114119:TC:
Gene:: TBCB (Varview), POLR2I (Varview), OVOL3 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.36114120_36114121del, NC_000019.9:g.36605022_36605023del

Select item 14913220892.

rs1491322089 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 19:36114120 (GRCh38)
19:36605023 (GRCh37)
Canonical SPDI:: NC_000019.10:36114120:C:CC
Gene:: TBCB (Varview), POLR2I (Varview), OVOL3 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.36114121dup, NC_000019.9:g.36605023dup

Select item 14903098303.

rs1490309830 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:36113925 (GRCh38)
19:36604827 (GRCh37)
Canonical SPDI:: NC_000019.10:36113924:A:C
Gene:: TBCB (Varview), POLR2I (Varview), OVOL3 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.36113925A>C, NC_000019.9:g.36604827A>C

Select item 14903095154.

rs1490309515 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:36115471 (GRCh38)
19:36606373 (GRCh37)
Canonical SPDI:: NC_000019.10:36115470:G:A
Gene:: TBCB (Varview), POLR2I (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.36115471G>A, NC_000019.9:g.36606373G>A, NM_001281.3:c.-90G>A, NM_001281.2:c.-90G>A, NR_155756.2:n.505G>A, NR_155756.1:n.486G>A

Select item 14898213405.

rs1489821340 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:36115767 (GRCh38)
19:36606669 (GRCh37)
Canonical SPDI:: NC_000019.10:36115766:G:C
Gene:: TBCB (Varview), POLR2I (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.36115767G>C, NC_000019.9:g.36606669G>C, NM_001300971.2:c.-201G>C

Select item 14896620416.

rs1489662041 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 19:36116497 (GRCh38)
19:36607399 (GRCh37)
Canonical SPDI:: NC_000019.10:36116495:AAA:A
Gene:: TBCB (Varview), POLR2I (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.36116497_36116498del, NC_000019.9:g.36607399_36607400del

Select item 14886837727.

rs1488683772 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:36116910 (GRCh38)
19:36607812 (GRCh37)
Canonical SPDI:: NC_000019.10:36116909:C:T
Gene:: TBCB (Varview)
Functional Consequence:: 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_000019.10:g.36116910C>T, NC_000019.9:g.36607812C>T

Select item 14878882248.

rs1487888224 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:36116484 (GRCh38)
19:36607386 (GRCh37)
Canonical SPDI:: NC_000019.10:36116483:G:A,NC_000019.10:36116483:G:C
Gene:: TBCB (Varview), POLR2I (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0./0 (GnomAD)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.36116484G>A, NC_000019.10:g.36116484G>C, NC_000019.9:g.36607386G>A, NC_000019.9:g.36607386G>C

Select item 14868167499.

rs1486816749 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:36114095 (GRCh38)
19:36604997 (GRCh37)
Canonical SPDI:: NC_000019.10:36114094:G:A,NC_000019.10:36114094:G:C
Gene:: TBCB (Varview), POLR2I (Varview), OVOL3 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000051/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.00006/1 (TOMMO)
HGVS:: NC_000019.10:g.36114095G>A, NC_000019.10:g.36114095G>C, NC_000019.9:g.36604997G>A, NC_000019.9:g.36604997G>C

Select item 148635392010.

rs1486353920 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:36114808 (GRCh38)
19:36605710 (GRCh37)
Canonical SPDI:: NC_000019.10:36114807:A:G
Gene:: TBCB (Varview), POLR2I (Varview)
Functional Consequence:: 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000031/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.36114808A>G, NC_000019.9:g.36605710A>G, NM_006233.5:c.49T>C, NM_006233.4:c.49T>C, NP_006224.1:p.Cys17Arg

Select item 148567037211.

rs1485670372 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:36116096 (GRCh38)
19:36606998 (GRCh37)
Canonical SPDI:: NC_000019.10:36116095:A:G
Gene:: TBCB (Varview), POLR2I (Varview)
Functional Consequence:: 2KB_upstream_variant,non_coding_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.36116096A>G, NC_000019.9:g.36606998A>G, NM_001281.3:c.170A>G, NM_001281.2:c.170A>G, NM_001300971.3:c.17A>G, NM_001300971.2:c.17A>G, NM_001300971.1:c.17A>G, NR_155756.2:n.764A>G, NR_155756.1:n.745A>G, NP_001272.2:p.Tyr57Cys, NP_001287900.1:p.Tyr6Cys

Select item 148337877412.

rs1483378774 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:36114531 (GRCh38)
19:36605433 (GRCh37)
Canonical SPDI:: NC_000019.10:36114530:G:A,NC_000019.10:36114530:G:C
Gene:: TBCB (Varview), POLR2I (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.36114531G>A, NC_000019.10:g.36114531G>C, NC_000019.9:g.36605433G>A, NC_000019.9:g.36605433G>C

Select item 148256194913.

rs1482561949 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:36113713 (GRCh38)
19:36604615 (GRCh37)
Canonical SPDI:: NC_000019.10:36113712:G:T
Gene:: TBCB (Varview), POLR2I (Varview), OVOL3 (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,3_prime_UTR_variant
HGVS:: NC_000019.10:g.36113713G>T, NC_000019.9:g.36604615G>T, NM_006233.5:c.*42C>A, NM_006233.4:c.*42C>A

Select item 148224282314.

rs1482242823 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:36113500 (GRCh38)
19:36604402 (GRCh37)
Canonical SPDI:: NC_000019.10:36113499:C:T
Gene:: TBCB (Varview), POLR2I (Varview), OVOL3 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,missense_variant,coding_sequence_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000007/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.36113500C>T, NC_000019.9:g.36604402C>T, NM_001302757.2:c.412C>T, NM_001302757.1:c.412C>T, XM_017027191.2:c.409C>T, XM_017027191.1:c.409C>T, NM_001270948.1:c.484C>T, NP_001289686.1:p.Arg138Cys, XP_016882680.1:p.Arg137Cys

Select item 148216517215.

rs1482165172 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:36113707 (GRCh38)
19:36604609 (GRCh37)
Canonical SPDI:: NC_000019.10:36113706:A:G
Gene:: TBCB (Varview), POLR2I (Varview), OVOL3 (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant,500B_downstream_variant
HGVS:: NC_000019.10:g.36113707A>G, NC_000019.9:g.36604609A>G, NM_001302757.2:c.*46A>G, NM_001302757.1:c.*46A>G, XM_017027191.2:c.*46A>G, XM_017027191.1:c.*46A>G, NM_001270948.1:c.*46A>G

Select item 148130737616.

rs1481307376 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:36115208 (GRCh38)
19:36606110 (GRCh37)
Canonical SPDI:: NC_000019.10:36115207:G:A
Gene:: TBCB (Varview), POLR2I (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.36115208G>A, NC_000019.9:g.36606110G>A, NM_006233.4:c.-352C>T, NR_155756.2:n.242G>A, NR_155756.1:n.223G>A, NM_001281.2:c.-353G>A

Select item 148127717917.

rs1481277179 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:36114516 (GRCh38)
19:36605418 (GRCh37)
Canonical SPDI:: NC_000019.10:36114515:C:T
Gene:: TBCB (Varview), POLR2I (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000034/9 (TOPMED)
HGVS:: NC_000019.10:g.36114516C>T, NC_000019.9:g.36605418C>T

Select item 148127628718.

rs1481276287 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:36116685 (GRCh38)
19:36607587 (GRCh37)
Canonical SPDI:: NC_000019.10:36116684:A:C
Gene:: TBCB (Varview), POLR2I (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.36116685A>C, NC_000019.9:g.36607587A>C

Select item 148063936319.

rs1480639363 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:36114654 (GRCh38)
19:36605556 (GRCh37)
Canonical SPDI:: NC_000019.10:36114653:C:G
Gene:: TBCB (Varview), POLR2I (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.36114654C>G, NC_000019.9:g.36605556C>G

Select item 148034523220.

rs1480345232 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:36114586 (GRCh38)
19:36605488 (GRCh37)
Canonical SPDI:: NC_000019.10:36114585:T:A
Gene:: TBCB (Varview), POLR2I (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.36114586T>A, NC_000019.9:g.36605488T>A