SNP Links for Nucleotide (Select 532164701) - SNP

Links from Nucleotide

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Select item 14890947731.

rs1489094773 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: X:48893706 (GRCh38)
X:48750989 (GRCh37)
Canonical SPDI:: NC_000023.11:48893705:C:T
Gene:: TIMM17B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.00001/1 (GnomAD)
T=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.48893706C>T, NW_004070880.2:g.1133135C>T, NG_015968.2:g.9444G>A, NM_005834.5:c.*23G>A, NM_005834.4:c.*23G>A, NM_005834.3:c.*23G>A, NM_001167947.2:c.*23G>A, NM_001167947.1:c.*23G>A, NM_001395497.1:c.*23G>A, NM_001395498.1:c.*23G>A, NG_015967.1:g.795C>T, NW_025791820.1:g.52541C>T, NC_000023.10:g.48750989C>T

Select item 14884300902.

rs1488430090 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: X:48893464 (GRCh38)
X:48750747 (GRCh37)
Canonical SPDI:: NC_000023.11:48893463:G:T
Gene:: TIMM17B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.48893464G>T, NW_004070880.2:g.1132893G>T, NG_015968.2:g.9686C>A, NM_005834.5:c.*265C>A, NM_005834.4:c.*265C>A, NM_005834.3:c.*265C>A, NM_001167947.2:c.*265C>A, NM_001167947.1:c.*265C>A, NM_001395497.1:c.*265C>A, NM_001395498.1:c.*265C>A, NG_015967.1:g.553G>T, NW_025791820.1:g.52299G>T, NC_000023.10:g.48750747G>T

Select item 14794908443.

rs1479490844 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:48895366 (GRCh38)
X:48752649 (GRCh37)
Canonical SPDI:: NC_000023.11:48895365:A:G
Gene:: TIMM17B (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.48895366A>G, NW_004070880.2:g.1134795A>G, NG_015968.2:g.7784T>C, NM_001167947.2:c.262T>C, NM_001167947.1:c.262T>C, NM_001395497.1:c.262T>C, NG_015967.1:g.2455A>G, NW_025791820.1:g.54201A>G, NC_000023.10:g.48752649A>G, NP_001161419.1:p.Cys88Arg, NP_001382426.1:p.Cys88Arg

Select item 14740946254.

rs1474094625 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: X:48897781 (GRCh38)
X:48755064 (GRCh37)
Canonical SPDI:: NC_000023.11:48897780:C:A,NC_000023.11:48897780:C:T
Gene:: PQBP1 (Varview), TIMM17B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.48897781C>A, NC_000023.11:g.48897781C>T, NW_004070880.2:g.1137210C>A, NW_004070880.2:g.1137210C>T, NG_015968.2:g.5369G>T, NG_015968.2:g.5369G>A, NM_005834.5:c.-32G>T, NM_005834.5:c.-32G>A, NM_005834.4:c.-32G>T, NM_005834.4:c.-32G>A, NM_005834.3:c.-32G>T, NM_005834.3:c.-32G>A, NM_001167947.2:c.-32G>T, NM_001167947.2:c.-32G>A, NM_001167947.1:c.-32G>T, NM_001167947.1:c.-32G>A, NW_025791820.1:g.56616C>A, NW_025791820.1:g.56616C>T, NC_000023.10:g.48755064C>A, NC_000023.10:g.48755064C>T, NG_015967.1:g.4870C>A, NG_015967.1:g.4870C>T

Select item 14608769635.

rs1460876963 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:48898117 (GRCh38)
X:48755400 (GRCh37)
Canonical SPDI:: NC_000023.11:48898116:G:C
Gene:: PQBP1 (Varview), TIMM17B (Varview)
Functional Consequence:: genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.48898117G>C, NW_004070880.2:g.1137546G>C, NG_015968.2:g.5033C>G, NM_005834.5:c.-123C>G, NM_005834.4:c.-123C>G, NM_005834.3:c.-123C>G, NM_001167947.2:c.-123C>G, NM_001167947.1:c.-123C>G, NW_025791820.1:g.56952G>C, NC_000023.10:g.48755400G>C, NG_015967.1:g.5206G>C, XM_011543884.3:c.-252G>C, XM_011543884.2:c.-252G>C, XM_011543884.1:c.-252G>C, XM_047441753.1:c.-252G>C

Select item 14504458076.

rs1450445807 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:48897748 (GRCh38)
X:48755031 (GRCh37)
Canonical SPDI:: NC_000023.11:48897747:A:G
Gene:: PQBP1 (Varview), TIMM17B (Varview)
Functional Consequence:: missense_variant,initiator_codon_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000006/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.48897748A>G, NW_004070880.2:g.1137177A>G, NG_015968.2:g.5402T>C, NM_005834.5:c.2T>C, NM_005834.4:c.2T>C, NM_005834.3:c.2T>C, NM_001167947.2:c.2T>C, NM_001167947.1:c.2T>C, NM_001395497.1:c.2T>C, NM_001395498.1:c.2T>C, NG_015967.1:g.4837A>G, NW_025791820.1:g.56583A>G, NC_000023.10:g.48755031A>G, NP_005825.1:p.Met1Thr, NP_001161419.1:p.Met1Thr, NP_001382426.1:p.Met1Thr, NP_001382427.1:p.Met1Thr

Select item 14406357777.

rs1440635777 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: X:48897773 (GRCh38)
X:48755056 (GRCh37)
Canonical SPDI:: NC_000023.11:48897772:T:C
Gene:: PQBP1 (Varview), TIMM17B (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.48897773T>C, NW_004070880.2:g.1137202T>C, NG_015968.2:g.5377A>G, NM_005834.5:c.-24A>G, NM_005834.4:c.-24A>G, NM_005834.3:c.-24A>G, NM_001167947.2:c.-24A>G, NM_001167947.1:c.-24A>G, NW_025791820.1:g.56608T>C, NC_000023.10:g.48755056T>C, NG_015967.1:g.4862T>C

Select item 14404100038.

rs1440410003 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:48896773 (GRCh38)
X:48754056 (GRCh37)
Canonical SPDI:: NC_000023.11:48896772:G:A
Gene:: PQBP1 (Varview), TIMM17B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.48896773G>A, NW_004070880.2:g.1136202G>A, NG_015968.2:g.6377C>T, NM_005834.5:c.112C>T, NM_005834.4:c.112C>T, NM_005834.3:c.112C>T, NM_001167947.2:c.112C>T, NM_001167947.1:c.112C>T, NM_001395497.1:c.112C>T, NM_001395498.1:c.112C>T, NG_015967.1:g.3862G>A, NW_025791820.1:g.55608G>A, NC_000023.10:g.48754056G>A, NP_005825.1:p.Arg38Cys, NP_001161419.1:p.Arg38Cys, NP_001382426.1:p.Arg38Cys, NP_001382427.1:p.Arg38Cys

Select item 14385484079.

rs1438548407 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:48893602 (GRCh38)
X:48750885 (GRCh37)
Canonical SPDI:: NC_000023.11:48893601:G:A
Gene:: TIMM17B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/2 (GnomAD)
A=0.000034/9 (TOPMED)
HGVS:: NC_000023.11:g.48893602G>A, NW_004070880.2:g.1133031G>A, NG_015968.2:g.9548C>T, NM_005834.5:c.*127C>T, NM_005834.4:c.*127C>T, NM_005834.3:c.*127C>T, NM_001167947.2:c.*127C>T, NM_001167947.1:c.*127C>T, NM_001395497.1:c.*127C>T, NM_001395498.1:c.*127C>T, NG_015967.1:g.691G>A, NW_025791820.1:g.52437G>A, NC_000023.10:g.48750885G>A

Select item 143762970510.

rs1437629705 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:48898103 (GRCh38)
X:48755386 (GRCh37)
Canonical SPDI:: NC_000023.11:48898102:C:G
Gene:: PQBP1 (Varview), TIMM17B (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.00001/1 (GnomAD)
HGVS:: NC_000023.11:g.48898103C>G, NW_004070880.2:g.1137532C>G, NG_015968.2:g.5047G>C, NM_005834.5:c.-109G>C, NM_005834.4:c.-109G>C, NM_005834.3:c.-109G>C, NM_001167947.2:c.-109G>C, NM_001167947.1:c.-109G>C, NG_015967.1:g.5192C>G, NW_025791820.1:g.56938C>G, NC_000023.10:g.48755386C>G

Select item 143459938011.

rs1434599380 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: X:48898090 (GRCh38)
X:48755373 (GRCh37)
Canonical SPDI:: NC_000023.11:48898089:T:G
Gene:: PQBP1 (Varview), TIMM17B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000019/2 (GnomAD)
HGVS:: NC_000023.11:g.48898090T>G, NW_004070880.2:g.1137519T>G, NG_015968.2:g.5060A>C, NM_005834.5:c.-96A>C, NM_005834.4:c.-96A>C, NM_005834.3:c.-96A>C, NM_001032383.2:c.-22T>G, NM_001032383.1:c.-22T>G, NM_001167947.2:c.-96A>C, NM_001167947.1:c.-96A>C, NG_015967.1:g.5179T>G, NW_025791820.1:g.56925T>G, NC_000023.10:g.48755373T>G, XM_017029207.2:c.-22T>G, XM_017029207.1:c.-22T>G, XM_047441754.1:c.-22T>G

Select item 143292704612.

rs1432927046 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:48893692 (GRCh38)
X:48750975 (GRCh37)
Canonical SPDI:: NC_000023.11:48893691:G:A
Gene:: TIMM17B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.48893692G>A, NW_004070880.2:g.1133121G>A, NG_015968.2:g.9458C>T, NM_005834.5:c.*37C>T, NM_005834.4:c.*37C>T, NM_005834.3:c.*37C>T, NM_001167947.2:c.*37C>T, NM_001167947.1:c.*37C>T, NM_001395497.1:c.*37C>T, NM_001395498.1:c.*37C>T, NG_015967.1:g.781G>A, NW_025791820.1:g.52527G>A, NC_000023.10:g.48750975G>A

Select item 142805526713.

rs1428055267 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: X:48893644 (GRCh38)
X:48750927 (GRCh37)
Canonical SPDI:: NC_000023.11:48893643:G:C
Gene:: TIMM17B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000023.11:g.48893644G>C, NW_004070880.2:g.1133073G>C, NG_015968.2:g.9506C>G, NM_005834.5:c.*85C>G, NM_005834.4:c.*85C>G, NM_005834.3:c.*85C>G, NM_001167947.2:c.*85C>G, NM_001167947.1:c.*85C>G, NM_001395497.1:c.*85C>G, NM_001395498.1:c.*85C>G, NG_015967.1:g.733G>C, NW_025791820.1:g.52479G>C, NC_000023.10:g.48750927G>C

Select item 142797642614.

rs1427976426 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: X:48896797 (GRCh38)
X:48754080 (GRCh37)
Canonical SPDI:: NC_000023.11:48896796:C:G
Gene:: PQBP1 (Varview), TIMM17B (Varview)
Functional Consequence:: missense_variant,2KB_upstream_variant,coding_sequence_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000029/3 (GnomAD)
HGVS:: NC_000023.11:g.48896797C>G, NW_004070880.2:g.1136226C>G, NG_015968.2:g.6353G>C, NM_005834.5:c.88G>C, NM_005834.4:c.88G>C, NM_005834.3:c.88G>C, NM_001167947.2:c.88G>C, NM_001167947.1:c.88G>C, NM_001395497.1:c.88G>C, NM_001395498.1:c.88G>C, NG_015967.1:g.3886C>G, NW_025791820.1:g.55632C>G, NC_000023.10:g.48754080C>G, NP_005825.1:p.Val30Leu, NP_001161419.1:p.Val30Leu, NP_001382426.1:p.Val30Leu, NP_001382427.1:p.Val30Leu

Select item 142558556215.

rs1425585562 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:48898096 (GRCh38)
X:48755379 (GRCh37)
Canonical SPDI:: NC_000023.11:48898095:G:A
Gene:: PQBP1 (Varview), TIMM17B (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.48898096G>A, NW_004070880.2:g.1137525G>A, NG_015968.2:g.5054C>T, NM_005834.5:c.-102C>T, NM_005834.4:c.-102C>T, NM_005834.3:c.-102C>T, NM_001167947.2:c.-102C>T, NM_001167947.1:c.-102C>T, NG_015967.1:g.5185G>A, NW_025791820.1:g.56931G>A, NC_000023.10:g.48755379G>A

Select item 142061839416.

rs1420618394 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:48897810 (GRCh38)
X:48755093 (GRCh37)
Canonical SPDI:: NC_000023.11:48897809:G:A
Gene:: PQBP1 (Varview), TIMM17B (Varview)
Functional Consequence:: 2KB_upstream_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=0.000019/2 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000023.11:g.48897810G>A, NW_004070880.2:g.1137239G>A, NG_015968.2:g.5340C>T, NM_005834.5:c.-61C>T, NM_005834.4:c.-61C>T, NM_005834.3:c.-61C>T, NM_001167947.2:c.-61C>T, NM_001167947.1:c.-61C>T, NW_025791820.1:g.56645G>A, NC_000023.10:g.48755093G>A, NG_015967.1:g.4899G>A

Select item 138987700517.

rs1389877005 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: X:48895494 (GRCh38)
X:48752777 (GRCh37)
Canonical SPDI:: NC_000023.11:48895493:A:C
Gene:: TIMM17B (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.00001/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.48895494A>C, NW_004070880.2:g.1134923A>C, NG_015968.2:g.7656T>G, NM_001167947.2:c.134T>G, NM_001167947.1:c.134T>G, NM_001395497.1:c.134T>G, NG_015967.1:g.2583A>C, NW_025791820.1:g.54329A>C, NC_000023.10:g.48752777A>C, NP_001161419.1:p.Leu45Trp, NP_001382426.1:p.Leu45Trp

Select item 138637771718.

rs1386377717 has merged into rs782500597 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: X:48894204 (GRCh38)
X:48751487 (GRCh37)
Canonical SPDI:: NC_000023.11:48894203:CCCCCCC:CCCCCC,NC_000023.11:48894203:CCCCCCC:CCCCCCCC
Gene:: TIMM17B (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCC=0./0 (ALFA)
-=0.00001/1 (GnomAD)
-=0.000015/4 (TOPMED)
-=0.000414/28 (ExAC)
HGVS:: NC_000023.11:g.48894210del, NC_000023.11:g.48894210dup, NW_004070880.2:g.1133639del, NW_004070880.2:g.1133639dup, NG_015968.2:g.8946del, NG_015968.2:g.8946dup, NM_005834.5:c.212del, NM_005834.5:c.212dup, NM_005834.4:c.212del, NM_005834.4:c.212dup, NM_005834.3:c.212del, NM_005834.3:c.212dup, NM_001167947.2:c.362del, NM_001167947.2:c.362dup, NM_001167947.1:c.362del, NM_001167947.1:c.362dup, NM_001395497.1:c.362del, NM_001395497.1:c.362dup, NM_001395498.1:c.212del, NM_001395498.1:c.212dup, NG_015967.1:g.1299del, NG_015967.1:g.1299dup, NW_025791820.1:g.53045del, NW_025791820.1:g.53045dup, NC_000023.10:g.48751493del, NC_000023.10:g.48751493dup, NP_005825.1:p.Gly71fs, NP_005825.1:p.Leu72fs, NP_001161419.1:p.Gly121fs, NP_001161419.1:p.Leu122fs, NP_001382426.1:p.Gly121fs, NP_001382426.1:p.Leu122fs, NP_001382427.1:p.Gly71fs, NP_001382427.1:p.Leu72fs

Select item 137252328319.

rs1372523283 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: X:48893797 (GRCh38)
X:48751080 (GRCh37)
Canonical SPDI:: NC_000023.11:48893796:G:A
Gene:: TIMM17B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000023.11:g.48893797G>A, NW_004070880.2:g.1133226G>A, NG_015968.2:g.9353C>T, NM_005834.5:c.451C>T, NM_005834.4:c.451C>T, NM_005834.3:c.451C>T, NM_001167947.2:c.601C>T, NM_001167947.1:c.601C>T, NM_001395497.1:c.601C>T, NM_001395498.1:c.451C>T, NG_015967.1:g.886G>A, NW_025791820.1:g.52632G>A, NC_000023.10:g.48751080G>A, NP_005825.1:p.Pro151Ser, NP_001161419.1:p.Pro201Ser, NP_001382426.1:p.Pro201Ser, NP_001382427.1:p.Pro151Ser

Select item 136677619620.

rs1366776196 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: X:48893577 (GRCh38)
X:48750860 (GRCh37)
Canonical SPDI:: NC_000023.11:48893576:A:G
Gene:: TIMM17B (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000023.11:g.48893577A>G, NW_004070880.2:g.1133006A>G, NG_015968.2:g.9573T>C, NM_005834.5:c.*152T>C, NM_005834.4:c.*152T>C, NM_005834.3:c.*152T>C, NM_001167947.2:c.*152T>C, NM_001167947.1:c.*152T>C, NM_001395497.1:c.*152T>C, NM_001395498.1:c.*152T>C, NG_015967.1:g.666A>G, NW_025791820.1:g.52412A>G, NC_000023.10:g.48750860A>G

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