SNP Links for Gene (Select 653645) - SNP

Links from Gene

Items: 1 to 20 of 12186

<< First< Prev

Page of 610

Next >Last >>

Select item 14915519811.

rs1491551981 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 17:59981691 (GRCh38)
17:58059052 (GRCh37)
Canonical SPDI:: NC_000017.11:59981690:GT:
Gene:: TBC1D3P1-DHX40P1 (Varview), RNFT1-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00004/2 (GnomAD)
HGVS:: NC_000017.11:g.59981691_59981692del, NC_000017.10:g.58059052_58059053del, NG_046682.2:g.20776_20777del

Select item 14914781522.

rs1491478152 has merged into rs4047778 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 17:59986283 (GRCh38)
17:58063644 (GRCh37)
Canonical SPDI:: NC_000017.11:59986271:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000017.11:59986271:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000017.11:59986271:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000017.11:59986271:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000017.11:59986271:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000017.11:59986271:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000017.11:59986271:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000017.11:59986271:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59986271:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000017.11:59986271:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: TBC1D3P1-DHX40P1 (Varview), RNFT1-DT (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000017.11:g.59986283_59986290del, NC_000017.11:g.59986286_59986290del, NC_000017.11:g.59986287_59986290del, NC_000017.11:g.59986288_59986290del, NC_000017.11:g.59986289_59986290del, NC_000017.11:g.59986290del, NC_000017.11:g.59986290dup, NC_000017.11:g.59986289_59986290dup, NC_000017.11:g.59986288_59986290dup, NC_000017.11:g.59986286_59986290dup, NC_000017.10:g.58063644_58063651del, NC_000017.10:g.58063647_58063651del, NC_000017.10:g.58063648_58063651del, NC_000017.10:g.58063649_58063651del, NC_000017.10:g.58063650_58063651del, NC_000017.10:g.58063651del, NC_000017.10:g.58063651dup, NC_000017.10:g.58063650_58063651dup, NC_000017.10:g.58063649_58063651dup, NC_000017.10:g.58063647_58063651dup, NG_046682.2:g.16189_16196del, NG_046682.2:g.16192_16196del, NG_046682.2:g.16193_16196del, NG_046682.2:g.16194_16196del, NG_046682.2:g.16195_16196del, NG_046682.2:g.16196del, NG_046682.2:g.16196dup, NG_046682.2:g.16195_16196dup, NG_046682.2:g.16194_16196dup, NG_046682.2:g.16192_16196dup

Select item 14914145403.

rs1491414540 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 17:59986272 (GRCh38)
17:58063634 (GRCh37)
Canonical SPDI:: NC_000017.11:59986272::G
Gene:: TBC1D3P1-DHX40P1 (Varview), RNFT1-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.00013/1 (GnomAD)
HGVS:: NC_000017.11:g.59986272_59986273insG, NC_000017.10:g.58063633_58063634insG, NG_046682.2:g.16195_16196insC

Select item 14914101884.

rs1491410188 has merged into rs201524662 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 17:59981706 (GRCh38)
17:58059067 (GRCh37)
Canonical SPDI:: NC_000017.11:59981691:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:59981691:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:59981691:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:59981691:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:59981691:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:59981691:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: TBC1D3P1-DHX40P1 (Varview), RNFT1-DT (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
TT=0.398644/105517 (TOPMED)
HGVS:: NC_000017.11:g.59981706_59981708del, NC_000017.11:g.59981707_59981708del, NC_000017.11:g.59981708del, NC_000017.11:g.59981708dup, NC_000017.11:g.59981707_59981708dup, NC_000017.11:g.59981706_59981708dup, NC_000017.10:g.58059067_58059069del, NC_000017.10:g.58059068_58059069del, NC_000017.10:g.58059069del, NC_000017.10:g.58059069dup, NC_000017.10:g.58059068_58059069dup, NC_000017.10:g.58059067_58059069dup, NG_046682.2:g.20774_20776del, NG_046682.2:g.20775_20776del, NG_046682.2:g.20776del, NG_046682.2:g.20776dup, NG_046682.2:g.20775_20776dup, NG_046682.2:g.20774_20776dup

Select item 14909973805.

rs1490997380 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:59989627 (GRCh38)
17:58066988 (GRCh37)
Canonical SPDI:: NC_000017.11:59989626:G:A
Gene:: TBC1D3P1-DHX40P1 (Varview), RNFT1-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.59989627G>A, NC_000017.10:g.58066988G>A, NG_046682.2:g.12841C>T

Select item 14909490606.

rs1490949060 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:59973750 (GRCh38)
17:58051111 (GRCh37)
Canonical SPDI:: NC_000017.11:59973749:T:G
Gene:: TBC1D3P1-DHX40P1 (Varview), RNFT1-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.59973750T>G, NC_000017.10:g.58051111T>G

Select item 14909417777.

rs1490941777 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:59974942 (GRCh38)
17:58052303 (GRCh37)
Canonical SPDI:: NC_000017.11:59974941:A:G
Gene:: TBC1D3P1-DHX40P1 (Varview), RNFT1-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.59974942A>G, NC_000017.10:g.58052303A>G

Select item 14908969278.

rs1490896927 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:59999468 (GRCh38)
17:58076829 (GRCh37)
Canonical SPDI:: NC_000017.11:59999467:G:A
Gene:: TBC1D3P1-DHX40P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000068/8 (GnomAD)
A=0.000156/1 (1000Genomes)
HGVS:: NC_000017.11:g.59999468G>A, NC_000017.10:g.58076829G>A, NG_046682.2:g.3000C>T

Select item 14908826049.

rs1490882604 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:60008344 (GRCh38)
17:58085705 (GRCh37)
Canonical SPDI:: NC_000017.11:60008343:A:G
Gene:: TBC1D3P1-DHX40P1 (Varview)
Functional Consequence:: 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_000017.11:g.60008344A>G, NC_000017.10:g.58085705A>G, NG_046680.1:g.10809T>C

Select item 149086611110.

rs1490866111 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:59997497 (GRCh38)
17:58074858 (GRCh37)
Canonical SPDI:: NC_000017.11:59997496:C:T
Gene:: TBC1D3P1-DHX40P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.59997497C>T, NC_000017.10:g.58074858C>T, NG_046682.2:g.4971G>A

Select item 149084384311.

rs1490843843 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:59990549 (GRCh38)
17:58067910 (GRCh37)
Canonical SPDI:: NC_000017.11:59990548:C:T
Gene:: TBC1D3P1-DHX40P1 (Varview), RNFT1-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00053/7 (TOMMO)
T=0.00078/5 (1000Genomes)
HGVS:: NC_000017.11:g.59990549C>T, NC_000017.10:g.58067910C>T, NG_046682.2:g.11919G>A

Select item 149078214612.

rs1490782146 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:60020025 (GRCh38)
17:58097386 (GRCh37)
Canonical SPDI:: NC_000017.11:60020024:T:C
Gene:: TBC1D3P1-DHX40P1 (Varview), LOC105371848 (Varview)
Functional Consequence:: downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000026/7 (TOPMED)
HGVS:: NC_000017.11:g.60020025T>C, NC_000017.10:g.58097386T>C

Select item 149074625513.

rs1490746255 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:59982030 (GRCh38)
17:58059391 (GRCh37)
Canonical SPDI:: NC_000017.11:59982029:A:G
Gene:: TBC1D3P1-DHX40P1 (Varview), RNFT1-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000026/1 (GnomAD)
HGVS:: NC_000017.11:g.59982030A>G, NC_000017.10:g.58059391A>G, NG_046682.2:g.20438T>C

Select item 149070726414.

rs1490707264 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 17:60011583 (GRCh38)
17:58088945 (GRCh37)
Canonical SPDI:: NC_000017.11:60011583:T:TCTT
Gene:: TBC1D3P1-DHX40P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: TCT=0.00134/23 (TOMMO)
HGVS:: NC_000017.11:g.60011584_60011585insCTT, NC_000017.10:g.58088945_58088946insCTT, NG_046680.1:g.7569_7570insAGA

Select item 149065681715.

rs1490656817 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:60012657 (GRCh38)
17:58090018 (GRCh37)
Canonical SPDI:: NC_000017.11:60012656:T:A
Gene:: TBC1D3P1-DHX40P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000023/3 (GnomAD)
A=0.000034/9 (TOPMED)
A=0.000849/14 (TOMMO)
A=0.001131/2 (Korea1K)
A=0.002055/6 (KOREAN)
HGVS:: NC_000017.11:g.60012657T>A, NC_000017.10:g.58090018T>A, NG_046680.1:g.6496A>T

Select item 149065093016.

rs1490650930 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:60000274 (GRCh38)
17:58077635 (GRCh37)
Canonical SPDI:: NC_000017.11:60000273:T:C
Gene:: TBC1D3P1-DHX40P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000017.11:g.60000274T>C, NC_000017.10:g.58077635T>C, NG_046682.2:g.2194A>G

Select item 149062298017.

rs1490622980 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTTT>- [Show Flanks]
Chromosome:: 17:59977275 (GRCh38)
17:58054636 (GRCh37)
Canonical SPDI:: NC_000017.11:59977271:TTTGTTT:TTT
Gene:: TBC1D3P1-DHX40P1 (Varview), RNFT1-DT (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000017.11:g.59977275_59977278del, NC_000017.10:g.58054636_58054639del, NG_046682.2:g.25193_25196del

Select item 149061596918.

rs1490615969 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:59999106 (GRCh38)
17:58076467 (GRCh37)
Canonical SPDI:: NC_000017.11:59999105:T:C
Gene:: TBC1D3P1-DHX40P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.59999106T>C, NC_000017.10:g.58076467T>C, NG_046682.2:g.3362A>G

Select item 149059780219.

rs1490597802 [Homo sapiens]

Variant type:: SNV:
Alleles:: A>T
Chromosome:: no mapping
Canonical SPDI:

Select item 149052103120.

rs1490521031 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 17:60014935 (GRCh38)
17:58092296 (GRCh37)
Canonical SPDI:: NC_000017.11:60014934:T:C,NC_000017.11:60014934:T:G
Gene:: TBC1D3P1-DHX40P1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000017.11:g.60014935T>C, NC_000017.11:g.60014935T>G, NC_000017.10:g.58092296T>C, NC_000017.10:g.58092296T>G, NG_046680.1:g.4218A>G, NG_046680.1:g.4218A>C

<< First< Prev

Page of 610

Next >Last >>

dbSNP

Result Filters

Validation Status

Publication

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Gene

Items: 1 to 20 of 12186

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity