SNP Links for Gene (Select 26515) - SNP

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Select item 14910812431.

rs1491081243 [Homo sapiens]

Variant type:: INS
Alleles:: ->AAT [Show Flanks]
Chromosome:: 11:6480433 (GRCh38)
11:6501664 (GRCh37)
Canonical SPDI:: NC_000011.10:6480433::AAT
Gene:: ARFIP2 (Varview), TIMM10B (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,2KB_upstream_variant,5_prime_UTR_variant,upstream_transcript_variant
HGVS:: NC_000011.10:g.6480433_6480434insAAT, NC_000011.9:g.6501663_6501664insAAT, NM_001242854.3:c.-13_-12insATT, NM_001242854.2:c.-13_-12insATT, NM_001242854.1:c.-13_-12insATT, NR_164826.2:n.131_132insATT, NR_164826.1:n.131_132insATT, NR_163424.2:n.131_132insATT, NR_163424.1:n.131_132insATT, NM_001376562.2:c.-149_-148insATT, NM_001376562.1:c.-149_-148insATT, NM_001376558.2:c.-13_-12insATT, NM_001376558.1:c.-13_-12insATT, NM_001376559.2:c.-13_-12insATT, NM_001376559.1:c.-13_-12insATT, NM_001376560.2:c.-13_-12insATT, NM_001376560.1:c.-13_-12insATT, NM_001370409.2:c.-13_-12insATT, NM_001370409.1:c.-13_-12insATT, NM_001370413.2:c.-13_-12insATT, NM_001370413.1:c.-13_-12insATT, NR_164825.2:n.131_132insATT, NR_164825.1:n.131_132insATT, XM_047426687.1:c.-13_-12insATT

Select item 14905916982.

rs1490591698 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:6480791 (GRCh38)
11:6502021 (GRCh37)
Canonical SPDI:: NC_000011.10:6480790:G:T
Gene:: ARFIP2 (Varview), TIMM10B (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,2KB_upstream_variant,upstream_transcript_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_000011.10:g.6480791G>T, NC_000011.9:g.6502021G>T, XM_047426687.1:c.-370C>A

Select item 14905569113.

rs1490556911 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:6481447 (GRCh38)
11:6502677 (GRCh37)
Canonical SPDI:: NC_000011.10:6481446:G:A,NC_000011.10:6481446:G:T
Gene:: ARFIP2 (Varview), TIMM10B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00007/1 (TOMMO)
HGVS:: NC_000011.10:g.6481447G>A, NC_000011.10:g.6481447G>T, NC_000011.9:g.6502677G>A, NC_000011.9:g.6502677G>T, NM_012402.3:c.-219C>T, NM_012402.3:c.-219C>A, NM_012192.3:c.-70G>A, NM_012192.3:c.-70G>T, NM_001242854.1:c.-259C>T, NM_001242854.1:c.-259C>A, NM_001242855.1:c.-232C>T, NM_001242855.1:c.-232C>A, NM_001242856.1:c.-254C>T, NM_001242856.1:c.-254C>A

Select item 14903533074.

rs1490353307 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 11:6484108 (GRCh38)
11:6505338 (GRCh37)
Canonical SPDI:: NC_000011.10:6484107:A:G,NC_000011.10:6484107:A:T
Gene:: TIMM10B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000264/4 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.6484108A>G, NC_000011.10:g.6484108A>T, NC_000011.9:g.6505338A>G, NC_000011.9:g.6505338A>T, NM_012192.4:c.*1887A>G, NM_012192.4:c.*1887A>T, NM_012192.3:c.*1887A>G, NM_012192.3:c.*1887A>T

Select item 14902284775.

rs1490228477 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:6482157 (GRCh38)
11:6503387 (GRCh37)
Canonical SPDI:: NC_000011.10:6482156:A:C
Gene:: ARFIP2 (Varview), TIMM10B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.6482157A>C, NC_000011.9:g.6503387A>C, NM_012192.4:c.248A>C, NM_012192.3:c.248A>C, NP_036324.1:p.Glu83Ala

Select item 14899387696.

rs1489938769 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:6483025 (GRCh38)
11:6504255 (GRCh37)
Canonical SPDI:: NC_000011.10:6483024:G:A
Gene:: ARFIP2 (Varview), TIMM10B (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.6483025G>A, NC_000011.9:g.6504255G>A, NM_012192.4:c.*804G>A, NM_012192.3:c.*804G>A

Select item 14898824927.

rs1489882492 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 11:6480938 (GRCh38)
11:6502168 (GRCh37)
Canonical SPDI:: NC_000011.10:6480937:GGGGG:GGGG,NC_000011.10:6480937:GGGGG:GGGGGG
Gene:: ARFIP2 (Varview), TIMM10B (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0./0 (ALFA)
-=0.000019/5 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000011.10:g.6480942del, NC_000011.10:g.6480942dup, NC_000011.9:g.6502172del, NC_000011.9:g.6502172dup, XM_047426687.1:c.-517del, XM_047426687.1:c.-517dup

Select item 14898520428.

rs1489852042 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 11:6482670 (GRCh38)
11:6503900 (GRCh37)
Canonical SPDI:: NC_000011.10:6482669:A:T
Gene:: ARFIP2 (Varview), TIMM10B (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000011.10:g.6482670A>T, NC_000011.9:g.6503900A>T, NM_012192.4:c.*449A>T, NM_012192.3:c.*449A>T

Select item 14892578709.

rs1489257870 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:6483579 (GRCh38)
11:6504809 (GRCh37)
Canonical SPDI:: NC_000011.10:6483578:C:T
Gene:: TIMM10B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.6483579C>T, NC_000011.9:g.6504809C>T, NM_012192.4:c.*1358C>T, NM_012192.3:c.*1358C>T

Select item 148834545510.

rs1488345455 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:6479909 (GRCh38)
11:6501139 (GRCh37)
Canonical SPDI:: NC_000011.10:6479908:T:C
Gene:: ARFIP2 (Varview), TIMM10B (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.6479909T>C, NC_000011.9:g.6501139T>C

Select item 148796497711.

rs1487964977 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:6484845 (GRCh38)
11:6506075 (GRCh37)
Canonical SPDI:: NC_000011.10:6484844:C:T
Gene:: TIMM10B (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.6484845C>T, NC_000011.9:g.6506075C>T

Select item 148761346112.

rs1487613461 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAT>- [Show Flanks]
Chromosome:: 11:6485066 (GRCh38)
11:6506296 (GRCh37)
Canonical SPDI:: NC_000011.10:6485063:ATCAT:AT
Gene:: TIMM10B (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: AT=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.6485066_6485068del, NC_000011.9:g.6506296_6506298del

Select item 148754783313.

rs1487547833 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:6484592 (GRCh38)
11:6505822 (GRCh37)
Canonical SPDI:: NC_000011.10:6484591:A:C
Gene:: TIMM10B (Varview)
Functional Consequence:: 3_prime_UTR_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_000011.10:g.6484592A>C, NC_000011.9:g.6505822A>C, NM_012192.4:c.*2371A>C, NM_012192.3:c.*2371A>C

Select item 148733371114.

rs1487333711 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:6481155 (GRCh38)
11:6502385 (GRCh37)
Canonical SPDI:: NC_000011.10:6481154:C:G
Gene:: ARFIP2 (Varview), TIMM10B (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.6481155C>G, NC_000011.9:g.6502385C>G, XM_047426687.1:c.-734G>C

Select item 148720114415.

rs1487201144 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:6480245 (GRCh38)
11:6501475 (GRCh37)
Canonical SPDI:: NC_000011.10:6480244:T:C
Gene:: ARFIP2 (Varview), TIMM10B (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.6480245T>C, NC_000011.9:g.6501475T>C

Select item 148680421716.

rs1486804217 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:6484464 (GRCh38)
11:6505694 (GRCh37)
Canonical SPDI:: NC_000011.10:6484463:C:G
Gene:: TIMM10B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.6484464C>G, NC_000011.9:g.6505694C>G, NM_012192.4:c.*2243C>G, NM_012192.3:c.*2243C>G

Select item 148644556317.

rs1486445563 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:6481821 (GRCh38)
11:6503051 (GRCh37)
Canonical SPDI:: NC_000011.10:6481820:G:C
Gene:: ARFIP2 (Varview), TIMM10B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.6481821G>C, NC_000011.9:g.6503051G>C, NM_012192.4:c.104G>C, NM_012192.3:c.104G>C, NP_036324.1:p.Ser35Thr

Select item 148639054218.

rs1486390542 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:6481744 (GRCh38)
11:6502974 (GRCh37)
Canonical SPDI:: NC_000011.10:6481743:C:A
Gene:: ARFIP2 (Varview), TIMM10B (Varview)
Functional Consequence:: intron_variant,2KB_upstream_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)
A=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000011.10:g.6481744C>A, NC_000011.9:g.6502974C>A

Select item 148586536719.

rs1485865367 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:6480906 (GRCh38)
11:6502136 (GRCh37)
Canonical SPDI:: NC_000011.10:6480905:C:A
Gene:: ARFIP2 (Varview), TIMM10B (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000026/7 (TOPMED)
A=0.000142/2 (TOMMO)
A=0.000546/1 (Korea1K)
HGVS:: NC_000011.10:g.6480906C>A, NC_000011.9:g.6502136C>A, XM_047426687.1:c.-485G>T

Select item 148511781720.

rs1485117817 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:6483066 (GRCh38)
11:6504296 (GRCh37)
Canonical SPDI:: NC_000011.10:6483065:G:A
Gene:: ARFIP2 (Varview), TIMM10B (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000023/6 (TOPMED)
HGVS:: NC_000011.10:g.6483066G>A, NC_000011.9:g.6504296G>A, NM_012192.4:c.*845G>A, NM_012192.3:c.*845G>A