SNP Links for Gene (Select 92014) - SNP

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Select item 14914883801.

rs1491488380 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 9:37885341 (GRCh38)
9:37885339 (GRCh37)
Canonical SPDI:: NC_000009.12:37885341:T:TT
Gene:: SLC25A51 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TT=0./0 (ALFA)
T=0.00005/4 (GnomAD)
HGVS:: NC_000009.12:g.37885342dup, NC_000009.11:g.37885339dup, NG_005828.6:g.7381dup

Select item 14912842522.

rs1491284252 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 9:37877553 (GRCh38)
9:37877551 (GRCh37)
Canonical SPDI:: NC_000009.12:37877553:T:TGT
Gene:: SLC25A51 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGT=0.00119/14 (ALFA)
TG=0.01228/995 (GnomAD)
HGVS:: NC_000009.12:g.37877554_37877555insGT, NC_000009.11:g.37877551_37877552insGT

Select item 14911519683.

rs1491151968 has merged into rs535806271 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:37877563 (GRCh38)
9:37877560 (GRCh37)
Canonical SPDI:: NC_000009.12:37877552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:37877552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:37877552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:37877552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:37877552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:37877552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:37877552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:37877552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:37877552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:37877552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:37877552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000009.12:37877552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:37877552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:37877552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:37877552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:37877552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:37877552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:37877552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:37877552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:37877552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:37877552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:37877552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:37877552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:37877552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:37877552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:37877552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:37877552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:37877552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:37877552:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SLC25A51 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.08446/423 (1000Genomes)
HGVS:: NC_000009.12:g.37877563_37877574del, NC_000009.12:g.37877564_37877574del, NC_000009.12:g.37877565_37877574del, NC_000009.12:g.37877566_37877574del, NC_000009.12:g.37877567_37877574del, NC_000009.12:g.37877568_37877574del, NC_000009.12:g.37877569_37877574del, NC_000009.12:g.37877571_37877574del, NC_000009.12:g.37877572_37877574del, NC_000009.12:g.37877573_37877574del, NC_000009.12:g.37877574del, NC_000009.12:g.37877574dup, NC_000009.12:g.37877573_37877574dup, NC_000009.12:g.37877572_37877574dup, NC_000009.12:g.37877571_37877574dup, NC_000009.12:g.37877570_37877574dup, NC_000009.12:g.37877569_37877574dup, NC_000009.12:g.37877568_37877574dup, NC_000009.12:g.37877567_37877574dup, NC_000009.12:g.37877566_37877574dup, NC_000009.12:g.37877565_37877574dup, NC_000009.12:g.37877564_37877574dup, NC_000009.12:g.37877563_37877574dup, NC_000009.12:g.37877562_37877574dup, NC_000009.12:g.37877561_37877574dup, NC_000009.12:g.37877560_37877574dup, NC_000009.12:g.37877559_37877574dup, NC_000009.12:g.37877556_37877574dup, NC_000009.12:g.37877574_37877575insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.37877560_37877571del, NC_000009.11:g.37877561_37877571del, NC_000009.11:g.37877562_37877571del, NC_000009.11:g.37877563_37877571del, NC_000009.11:g.37877564_37877571del, NC_000009.11:g.37877565_37877571del, NC_000009.11:g.37877566_37877571del, NC_000009.11:g.37877568_37877571del, NC_000009.11:g.37877569_37877571del, NC_000009.11:g.37877570_37877571del, NC_000009.11:g.37877571del, NC_000009.11:g.37877571dup, NC_000009.11:g.37877570_37877571dup, NC_000009.11:g.37877569_37877571dup, NC_000009.11:g.37877568_37877571dup, NC_000009.11:g.37877567_37877571dup, NC_000009.11:g.37877566_37877571dup, NC_000009.11:g.37877565_37877571dup, NC_000009.11:g.37877564_37877571dup, NC_000009.11:g.37877563_37877571dup, NC_000009.11:g.37877562_37877571dup, NC_000009.11:g.37877561_37877571dup, NC_000009.11:g.37877560_37877571dup, NC_000009.11:g.37877559_37877571dup, NC_000009.11:g.37877558_37877571dup, NC_000009.11:g.37877557_37877571dup, NC_000009.11:g.37877556_37877571dup, NC_000009.11:g.37877553_37877571dup, NC_000009.11:g.37877571_37877572insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14910580474.

rs1491058047 has merged into rs543345911 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA,AAAA [Show Flanks]
Chromosome:: 9:37900463 (GRCh38)
9:37900460 (GRCh37)
Canonical SPDI:: NC_000009.12:37900449:AAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:37900449:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:37900449:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:37900449:AAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: SLC25A51 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
A=0.00089/15 (TOMMO)
A=0.175/7 (GENOME_DK)
HGVS:: NC_000009.12:g.37900463_37900464del, NC_000009.12:g.37900464del, NC_000009.12:g.37900464dup, NC_000009.12:g.37900463_37900464dup, NC_000009.11:g.37900460_37900461del, NC_000009.11:g.37900461del, NC_000009.11:g.37900461dup, NC_000009.11:g.37900460_37900461dup, NG_005828.6:g.22502_22503del, NG_005828.6:g.22503del, NG_005828.6:g.22503dup, NG_005828.6:g.22502_22503dup

Select item 14909579165.

rs1490957916 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:37894078 (GRCh38)
9:37894075 (GRCh37)
Canonical SPDI:: NC_000009.12:37894077:C:T
Gene:: SLC25A51 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000009.12:g.37894078C>T, NC_000009.11:g.37894075C>T, NG_005828.6:g.16117C>T

Select item 14907846896.

rs1490784689 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:37902593 (GRCh38)
9:37902590 (GRCh37)
Canonical SPDI:: NC_000009.12:37902592:C:A,NC_000009.12:37902592:C:T
Gene:: SLC25A51 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00004/1 (TOMMO)
HGVS:: NC_000009.12:g.37902593C>A, NC_000009.12:g.37902593C>T, NC_000009.11:g.37902590C>A, NC_000009.11:g.37902590C>T, NG_005828.6:g.24632C>A, NG_005828.6:g.24632C>T

Select item 14907519027.

rs1490751902 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 9:37886298 (GRCh38)
9:37886295 (GRCh37)
Canonical SPDI:: NC_000009.12:37886297:C:
Gene:: SLC25A51 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000009.12:g.37886298del, NC_000009.11:g.37886295del, NG_005828.6:g.8337del, NG_009211.2:g.716del

Select item 14906923958.

rs1490692395 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:37901555 (GRCh38)
9:37901552 (GRCh37)
Canonical SPDI:: NC_000009.12:37901554:G:T
Gene:: SLC25A51 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000079/21 (TOPMED)
T=0.000171/24 (GnomAD)
HGVS:: NC_000009.12:g.37901555G>T, NC_000009.11:g.37901552G>T, NG_005828.6:g.23594G>T

Select item 14906249229.

rs1490624922 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:37903101 (GRCh38)
9:37903098 (GRCh37)
Canonical SPDI:: NC_000009.12:37903100:C:T
Gene:: SLC25A51 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.37903101C>T, NC_000009.11:g.37903098C>T, NG_005828.6:g.25140C>T

Select item 149058889310.

rs1490588893 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:37886731 (GRCh38)
9:37886728 (GRCh37)
Canonical SPDI:: NC_000009.12:37886730:T:C
Gene:: SLC25A51 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.37886731T>C, NC_000009.11:g.37886728T>C, NG_005828.6:g.8770T>C, NG_009211.2:g.1149T>C

Select item 149051987511.

rs1490519875 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 9:37887573 (GRCh38)
9:37887570 (GRCh37)
Canonical SPDI:: NC_000009.12:37887572:T:A
Gene:: SLC25A51 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00068/10 (ALFA)
A=0.03628/106 (KOREAN)
HGVS:: NC_000009.12:g.37887573T>A, NC_000009.11:g.37887570T>A, NG_005828.6:g.9612T>A, NG_009211.2:g.1991T>A

Select item 149032594712.

rs1490325947 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:37891892 (GRCh38)
9:37891889 (GRCh37)
Canonical SPDI:: NC_000009.12:37891891:C:A,NC_000009.12:37891891:C:T
Gene:: SLC25A51 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000087/9 (GnomAD)
A=0.000354/10 (TOMMO)
A=0.030241/88 (KOREAN)
HGVS:: NC_000009.12:g.37891892C>A, NC_000009.12:g.37891892C>T, NC_000009.11:g.37891889C>A, NC_000009.11:g.37891889C>T, NG_005828.6:g.13931C>A, NG_005828.6:g.13931C>T

Select item 149032119313.

rs1490321193 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 9:37888959 (GRCh38)
9:37888956 (GRCh37)
Canonical SPDI:: NC_000009.12:37888958:G:A,NC_000009.12:37888958:G:T
Gene:: SLC25A51 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.37888959G>A, NC_000009.12:g.37888959G>T, NC_000009.11:g.37888956G>A, NC_000009.11:g.37888956G>T, NG_005828.6:g.10998G>A, NG_005828.6:g.10998G>T

Select item 148962901614.

rs1489629016 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:37904169 (GRCh38)
9:37904166 (GRCh37)
Canonical SPDI:: NC_000009.12:37904168:C:G
Gene:: SLC25A51 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_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_000009.12:g.37904169C>G, NC_000009.11:g.37904166C>G, NG_005828.6:g.26208C>G, NM_033412.3:c.-266G>C, NR_024872.2:n.185G>C, NR_024873.2:n.185G>C, NR_024872.1:n.185G>C, NR_024873.1:n.185G>C

Select item 148961265115.

rs1489612651 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:37877182 (GRCh38)
9:37877179 (GRCh37)
Canonical SPDI:: NC_000009.12:37877181:G:A
Gene:: SLC25A51 (Varview)
Functional Consequence:: 500B_downstream_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.37877182G>A, NC_000009.11:g.37877179G>A

Select item 148959633616.

rs1489596336 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:37889983 (GRCh38)
9:37889980 (GRCh37)
Canonical SPDI:: NC_000009.12:37889982:T:C
Gene:: SLC25A51 (Varview)
Functional Consequence:: intron_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_000009.12:g.37889983T>C, NC_000009.11:g.37889980T>C, NG_005828.6:g.12022T>C

Select item 148957789517.

rs1489577895 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:37895498 (GRCh38)
9:37895495 (GRCh37)
Canonical SPDI:: NC_000009.12:37895497:C:T
Gene:: SLC25A51 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.37895498C>T, NC_000009.11:g.37895495C>T, NG_005828.6:g.17537C>T

Select item 148947800018.

rs1489478000 [Homo sapiens]

Variant type:: DEL
Alleles:: GATA>- [Show Flanks]
Chromosome:: 9:37897591 (GRCh38)
9:37897588 (GRCh37)
Canonical SPDI:: NC_000009.12:37897590:GATA:
Gene:: SLC25A51 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000019/5 (TOPMED)
HGVS:: NC_000009.12:g.37897591_37897594del, NC_000009.11:g.37897588_37897591del, NG_005828.6:g.19630_19633del

Select item 148929621019.

rs1489296210 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 9:37903085 (GRCh38)
9:37903082 (GRCh37)
Canonical SPDI:: NC_000009.12:37903084:A:C
Gene:: SLC25A51 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000023/6 (TOPMED)
HGVS:: NC_000009.12:g.37903085A>C, NC_000009.11:g.37903082A>C, NG_005828.6:g.25124A>C

Select item 148926227820.

rs1489262278 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:37887473 (GRCh38)
9:37887470 (GRCh37)
Canonical SPDI:: NC_000009.12:37887472:G:A
Gene:: SLC25A51 (Varview)
Functional Consequence:: downstream_transcript_variant,genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000072/10 (GnomAD)
A=0.000072/19 (TOPMED)
HGVS:: NC_000009.12:g.37887473G>A, NC_000009.11:g.37887470G>A, NG_005828.6:g.9512G>A, NG_009211.2:g.1891G>A

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