SNP Links for Gene (Select 55171) - SNP

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Select item 14915403461.

rs1491540346 has merged into rs1313844798 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 3:186550239 (GRCh38)
3:186268028 (GRCh37)
Canonical SPDI:: NC_000003.12:186550227:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:186550227:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:186550227:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:186550227:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:186550227:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:186550227:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:186550227:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:186550227:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:186550227:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TBCCD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000003.12:g.186550239_186550247del, NC_000003.12:g.186550244_186550247del, NC_000003.12:g.186550245_186550247del, NC_000003.12:g.186550246_186550247del, NC_000003.12:g.186550247del, NC_000003.12:g.186550247dup, NC_000003.12:g.186550246_186550247dup, NC_000003.12:g.186550245_186550247dup, NC_000003.12:g.186550242_186550247dup, NC_000003.11:g.186268028_186268036del, NC_000003.11:g.186268033_186268036del, NC_000003.11:g.186268034_186268036del, NC_000003.11:g.186268035_186268036del, NC_000003.11:g.186268036del, NC_000003.11:g.186268036dup, NC_000003.11:g.186268035_186268036dup, NC_000003.11:g.186268034_186268036dup, NC_000003.11:g.186268031_186268036dup

Select item 14915024202.

rs1491502420 has merged into rs370017010 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 3:186565119 (GRCh38)
3:186282908 (GRCh37)
Canonical SPDI:: NC_000003.12:186565109:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000003.12:186565109:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000003.12:186565109:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000003.12:186565109:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000003.12:186565109:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000003.12:186565109:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000003.12:186565109:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000003.12:186565109:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000003.12:186565109:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000003.12:186565109:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000003.12:186565109:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000003.12:186565109:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000003.12:186565109:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:186565109:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:186565109:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:186565109:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:186565109:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:186565109:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:186565109:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:186565109:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:186565109:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:186565109:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:186565109:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000003.12:186565109:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TBCCD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.00105/278 (TOPMED)
HGVS:: NC_000003.12:g.186565119_186565128del, NC_000003.12:g.186565120_186565128del, NC_000003.12:g.186565121_186565128del, NC_000003.12:g.186565122_186565128del, NC_000003.12:g.186565123_186565128del, NC_000003.12:g.186565124_186565128del, NC_000003.12:g.186565125_186565128del, NC_000003.12:g.186565126_186565128del, NC_000003.12:g.186565127_186565128del, NC_000003.12:g.186565128del, NC_000003.12:g.186565128dup, NC_000003.12:g.186565127_186565128dup, NC_000003.12:g.186565126_186565128dup, NC_000003.12:g.186565125_186565128dup, NC_000003.12:g.186565124_186565128dup, NC_000003.12:g.186565123_186565128dup, NC_000003.12:g.186565122_186565128dup, NC_000003.12:g.186565121_186565128dup, NC_000003.12:g.186565120_186565128dup, NC_000003.12:g.186565119_186565128dup, NC_000003.12:g.186565118_186565128dup, NC_000003.12:g.186565117_186565128dup, NC_000003.12:g.186565116_186565128dup, NC_000003.12:g.186565115_186565128dup, NC_000003.11:g.186282908_186282917del, NC_000003.11:g.186282909_186282917del, NC_000003.11:g.186282910_186282917del, NC_000003.11:g.186282911_186282917del, NC_000003.11:g.186282912_186282917del, NC_000003.11:g.186282913_186282917del, NC_000003.11:g.186282914_186282917del, NC_000003.11:g.186282915_186282917del, NC_000003.11:g.186282916_186282917del, NC_000003.11:g.186282917del, NC_000003.11:g.186282917dup, NC_000003.11:g.186282916_186282917dup, NC_000003.11:g.186282915_186282917dup, NC_000003.11:g.186282914_186282917dup, NC_000003.11:g.186282913_186282917dup, NC_000003.11:g.186282912_186282917dup, NC_000003.11:g.186282911_186282917dup, NC_000003.11:g.186282910_186282917dup, NC_000003.11:g.186282909_186282917dup, NC_000003.11:g.186282908_186282917dup, NC_000003.11:g.186282907_186282917dup, NC_000003.11:g.186282906_186282917dup, NC_000003.11:g.186282905_186282917dup, NC_000003.11:g.186282904_186282917dup

Select item 14914931663.

rs1491493166 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:186554847 (GRCh38)
3:186272636 (GRCh37)
Canonical SPDI:: NC_000003.12:186554844:CACA:CA
Gene:: TBCCD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CACA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.186554845CA[1], NC_000003.11:g.186272634CA[1]

Select item 14914652004.

rs1491465200 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 3:186565110 (GRCh38)
3:186282900 (GRCh37)
Canonical SPDI:: NC_000003.12:186565110:T:TCT
Gene:: TBCCD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TCT=0./0 (ALFA)
HGVS:: NC_000003.12:g.186565111_186565112insCT, NC_000003.11:g.186282900_186282901insCT

Select item 14914411795.

rs1491441179 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->GCCACCTTGGACGCGATCCGGGGTGGGACTCTGCG
Chromosome:: no mapping
Canonical SPDI:

Select item 14913824186.

rs1491382418 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 3:186554845 (GRCh38)
3:186272635 (GRCh37)
Canonical SPDI:: NC_000003.12:186554845:A:AA
Gene:: TBCCD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000026/7 (TOPMED)
A=0.000156/1 (1000Genomes)
A=0.00046/8 (TOMMO)
HGVS:: NC_000003.12:g.186554846dup, NC_000003.11:g.186272635dup

Select item 14913684647.

rs1491368464 [Homo sapiens]

Variant type:: INS
Alleles:: ->GCT [Show Flanks]
Chromosome:: 3:186551872 (GRCh38)
3:186269662 (GRCh37)
Canonical SPDI:: NC_000003.12:186551872::GCT
Gene:: TBCCD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GCT=0.000071/1 (ALFA)
GCT=0.000034/9 (TOPMED)
HGVS:: NC_000003.12:g.186551872_186551873insGCT, NC_000003.11:g.186269661_186269662insGCT

Select item 14912341128.

rs1491234112 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:186550227 (GRCh38)
3:186268016 (GRCh37)
Canonical SPDI:: NC_000003.12:186550226:CA:
Gene:: TBCCD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00034/4 (ALFA)
HGVS:: NC_000003.12:g.186550227_186550228del, NC_000003.11:g.186268016_186268017del

Select item 14911597599.

rs1491159759 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 3:186551873 (GRCh38)
3:186269662 (GRCh37)
Canonical SPDI:: NC_000003.12:186551871:GAG:G
Gene:: TBCCD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.186551873_186551874del, NC_000003.11:g.186269662_186269663del

Select item 149111559210.

rs1491115592 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 3:186566892 (GRCh38)
3:186284681 (GRCh37)
Canonical SPDI:: NC_000003.12:186566891:CT:
Gene:: TBCCD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.186566892_186566893del, NC_000003.11:g.186284681_186284682del, NG_034024.1:g.1217_1218del

Select item 149099163111.

rs1490991631 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:186554331 (GRCh38)
3:186272120 (GRCh37)
Canonical SPDI:: NC_000003.12:186554330:T:C
Gene:: TBCCD1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.186554331T>C, NC_000003.11:g.186272120T>C, NM_018138.5:c.1467A>G, NM_018138.4:c.1467A>G, NM_018138.3:c.1467A>G, NM_001286749.2:c.1179A>G, NM_001286749.1:c.1179A>G, NM_001134415.1:c.1467A>G

Select item 149095342512.

rs1490953425 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTCAAG>- [Show Flanks]
Chromosome:: 3:186546909 (GRCh38)
3:186264698 (GRCh37)
Canonical SPDI:: NC_000003.12:186546899:AGTTTCAAGTTTCAAG:AGTTTCAAG
Gene:: TBCCD1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGTTTCAAG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.186546902TTTCAAG[1], NC_000003.11:g.186264691TTTCAAG[1], NG_009829.1:g.2466TGAAACT[1], NM_018138.5:c.*64TGAAACT[1], NM_018138.4:c.*64TGAAACT[1], NM_018138.3:c.*64TGAAACT[1], NM_001286749.2:c.*64TGAAACT[1], NM_001286749.1:c.*64TGAAACT[1], NM_001134415.1:c.*64TGAAACT[1]

Select item 149085445713.

rs1490854457 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 3:186563387 (GRCh38)
3:186281176 (GRCh37)
Canonical SPDI:: NC_000003.12:186563386:TTTTTTT:TTTTTT,NC_000003.12:186563386:TTTTTTT:TTTTTTTT
Gene:: TBCCD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000035/1 (TOMMO)
HGVS:: NC_000003.12:g.186563393del, NC_000003.12:g.186563393dup, NC_000003.11:g.186281182del, NC_000003.11:g.186281182dup

Select item 149031308114.

rs1490313081 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 3:186564968 (GRCh38)
3:186282758 (GRCh37)
Canonical SPDI:: NC_000003.12:186564968:TTTTTT:TTTTTTT
Gene:: TBCCD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTTTTTT=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.186564974dup, NC_000003.11:g.186282763dup

Select item 149013693415.

rs1490136934 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:186547409 (GRCh38)
3:186265198 (GRCh37)
Canonical SPDI:: NC_000003.12:186547408:C:T
Gene:: TBCCD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.186547409C>T, NC_000003.11:g.186265198C>T, NG_009829.1:g.1970G>A

Select item 149009236216.

rs1490092362 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 3:186568108 (GRCh38)
3:186285897 (GRCh37)
Canonical SPDI:: NC_000003.12:186568107:A:G,NC_000003.12:186568107:A:T
Gene:: TBCCD1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000054/1 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000014/2 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.186568108A>G, NC_000003.12:g.186568108A>T, NC_000003.11:g.186285897A>G, NC_000003.11:g.186285897A>T, NG_034024.1:g.2433A>G, NG_034024.1:g.2433A>T

Select item 149006289117.

rs1490062891 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 3:186549277 (GRCh38)
3:186267066 (GRCh37)
Canonical SPDI:: NC_000003.12:186549274:GAGA:GA
Gene:: TBCCD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAGA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.186549275GA[1], NC_000003.11:g.186267064GA[1], NG_009829.1:g.101TC[1]

Select item 148999871918.

rs1489998719 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 3:186554226 (GRCh38)
3:186272015 (GRCh37)
Canonical SPDI:: NC_000003.12:186554222:ACACA:ACA
Gene:: TBCCD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.186554224CA[1], NC_000003.11:g.186272013CA[1]

Select item 148992979719.

rs1489929797 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 3:186567124 (GRCh38)
3:186284913 (GRCh37)
Canonical SPDI:: NC_000003.12:186567123:GG:G
Gene:: TBCCD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.186567125del, NC_000003.11:g.186284914del, NG_034024.1:g.1450del

Select item 148992922620.

rs1489929226 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:186548841 (GRCh38)
3:186266630 (GRCh37)
Canonical SPDI:: NC_000003.12:186548840:G:A
Gene:: TBCCD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.186548841G>A, NC_000003.11:g.186266630G>A, NG_009829.1:g.538C>T

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