SNP Links for Gene (Select 93974) - SNP

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Select item 14915430781.

rs1491543078 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 1:28235219 (GRCh38)
1:28561730 (GRCh37)
Canonical SPDI:: NC_000001.11:28235218:TA:
Gene:: ATP5IF1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0.000071/1 (ALFA)
-=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.28235219_28235220del, NC_000001.10:g.28561730_28561731del, NW_018654706.1:g.28863_28864del

Select item 14913439382.

rs1491343938 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:28235219 (GRCh38)
1:28561731 (GRCh37)
Canonical SPDI:: NC_000001.11:28235219:AAAA:AAAAA
Gene:: ATP5IF1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAA=0.000071/1 (ALFA)
A=0.000049/13 (TOPMED)
A=0.000086/12 (GnomAD)
A=0.000312/2 (1000Genomes)
HGVS:: NC_000001.11:g.28235223dup, NC_000001.10:g.28561734dup, NW_018654706.1:g.28867dup

Select item 14909699063.

rs1490969906 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:28235752 (GRCh38)
1:28562263 (GRCh37)
Canonical SPDI:: NC_000001.11:28235751:C:T
Gene:: ATP5IF1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.28235752C>T, NC_000001.10:g.28562263C>T, NW_018654706.1:g.29396C>T

Select item 14909534614.

rs1490953461 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:28236657 (GRCh38)
1:28563168 (GRCh37)
Canonical SPDI:: NC_000001.11:28236656:A:T
Gene:: ATP5IF1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_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_000001.11:g.28236657A>T, NC_000001.10:g.28563168A>T, NW_018654706.1:g.30301A>T, NM_178191.3:c.*201A>T, NM_178191.2:c.*201A>T

Select item 14898075295.

rs1489807529 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:28237156 (GRCh38)
1:28563667 (GRCh37)
Canonical SPDI:: NC_000001.11:28237155:A:C
Gene:: ATP5IF1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.28237156A>C, NC_000001.10:g.28563667A>C, NW_018654706.1:g.30800A>C, NM_178191.3:c.*700A>C, NM_178191.2:c.*700A>C

Select item 14895484616.

rs1489548461 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:28237646 (GRCh38)
1:28564157 (GRCh37)
Canonical SPDI:: NC_000001.11:28237645:C:T
Gene:: ATP5IF1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.28237646C>T, NC_000001.10:g.28564157C>T, NW_018654706.1:g.31290C>T, NM_178191.3:c.*1190C>T, NM_178191.2:c.*1190C>T

Select item 14878719827.

rs1487871982 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:28235687 (GRCh38)
1:28562198 (GRCh37)
Canonical SPDI:: NC_000001.11:28235686:T:C
Gene:: ATP5IF1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.28235687T>C, NC_000001.10:g.28562198T>C, NW_018654706.1:g.29331T>C

Select item 14869799508.

rs1486979950 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:28235566 (GRCh38)
1:28562077 (GRCh37)
Canonical SPDI:: NC_000001.11:28235565:C:A,NC_000001.11:28235565:C:T
Gene:: ATP5IF1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.28235566C>A, NC_000001.11:g.28235566C>T, NC_000001.10:g.28562077C>A, NC_000001.10:g.28562077C>T, NW_018654706.1:g.29210C>A, NW_018654706.1:g.29210C>T

Select item 14868864739.

rs1486886473 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:28237698 (GRCh38)
1:28564209 (GRCh37)
Canonical SPDI:: NC_000001.11:28237697:G:A
Gene:: ATP5IF1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
A=0.00003/8 (TOPMED)
HGVS:: NC_000001.11:g.28237698G>A, NC_000001.10:g.28564209G>A, NW_018654706.1:g.31342G>A, NM_178191.3:c.*1242G>A, NM_178191.2:c.*1242G>A

Select item 148602031610.

rs1486020316 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:28235727 (GRCh38)
1:28562238 (GRCh37)
Canonical SPDI:: NC_000001.11:28235726:C:T
Gene:: ATP5IF1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.28235727C>T, NC_000001.10:g.28562238C>T, NW_018654706.1:g.29371C>T

Select item 148509653111.

rs1485096531 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:28236148 (GRCh38)
1:28562659 (GRCh37)
Canonical SPDI:: NC_000001.11:28236147:T:C
Gene:: ATP5IF1 (Varview)
Functional Consequence:: 5_prime_UTR_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.28236148T>C, NC_000001.10:g.28562659T>C, NW_018654706.1:g.29792T>C, NM_016311.5:c.-36T>C, NM_016311.4:c.-36T>C, NM_178191.3:c.-36T>C, NM_178191.2:c.-36T>C, NM_178190.3:c.-36T>C, NM_178190.2:c.-36T>C

Select item 148505786912.

rs1485057869 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:28236610 (GRCh38)
1:28563121 (GRCh37)
Canonical SPDI:: NC_000001.11:28236609:G:T
Gene:: ATP5IF1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000224/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.28236610G>T, NC_000001.10:g.28563121G>T, NW_018654706.1:g.30254G>T, NM_178191.3:c.*154G>T, NM_178191.2:c.*154G>T

Select item 148502065213.

rs1485020652 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:28237440 (GRCh38)
1:28563951 (GRCh37)
Canonical SPDI:: NC_000001.11:28237439:G:A
Gene:: ATP5IF1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000015/4 (TOPMED)
A=0.000342/1 (KOREAN)
A=0.001092/2 (Korea1K)
A=0.001132/19 (TOMMO)
HGVS:: NC_000001.11:g.28237440G>A, NC_000001.10:g.28563951G>A, NW_018654706.1:g.31084G>A, NM_178191.3:c.*984G>A, NM_178191.2:c.*984G>A

Select item 148414348514.

rs1484143485 has merged into rs568032881 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:28234648 (GRCh38)
1:28561159 (GRCh37)
Canonical SPDI:: NC_000001.11:28234638:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:28234638:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:28234638:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:28234638:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:28234638:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:28234638:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:28234638:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:28234638:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:28234638:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:28234638:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:28234638:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:28234638:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:28234638:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:28234638:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:28234638:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:28234638:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:28234638:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:28234638:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:28234638:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:28234638:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:28234638:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:28234638:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:28234638:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:28234638:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:28234638:TTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DNAJC8 (Varview), ATP5IF1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
TT=0.4992/2500 (1000Genomes)
HGVS:: NC_000001.11:g.28234648_28234665del, NC_000001.11:g.28234651_28234665del, NC_000001.11:g.28234652_28234665del, NC_000001.11:g.28234653_28234665del, NC_000001.11:g.28234654_28234665del, NC_000001.11:g.28234655_28234665del, NC_000001.11:g.28234656_28234665del, NC_000001.11:g.28234657_28234665del, NC_000001.11:g.28234659_28234665del, NC_000001.11:g.28234660_28234665del, NC_000001.11:g.28234661_28234665del, NC_000001.11:g.28234662_28234665del, NC_000001.11:g.28234663_28234665del, NC_000001.11:g.28234664_28234665del, NC_000001.11:g.28234665del, NC_000001.11:g.28234665dup, NC_000001.11:g.28234664_28234665dup, NC_000001.11:g.28234663_28234665dup, NC_000001.11:g.28234662_28234665dup, NC_000001.11:g.28234661_28234665dup, NC_000001.11:g.28234660_28234665dup, NC_000001.11:g.28234659_28234665dup, NC_000001.11:g.28234658_28234665dup, NC_000001.11:g.28234655_28234665dup, NC_000001.11:g.28234652_28234665dup, NC_000001.10:g.28561159_28561176del, NC_000001.10:g.28561162_28561176del, NC_000001.10:g.28561163_28561176del, NC_000001.10:g.28561164_28561176del, NC_000001.10:g.28561165_28561176del, NC_000001.10:g.28561166_28561176del, NC_000001.10:g.28561167_28561176del, NC_000001.10:g.28561168_28561176del, NC_000001.10:g.28561170_28561176del, NC_000001.10:g.28561171_28561176del, NC_000001.10:g.28561172_28561176del, NC_000001.10:g.28561173_28561176del, NC_000001.10:g.28561174_28561176del, NC_000001.10:g.28561175_28561176del, NC_000001.10:g.28561176del, NC_000001.10:g.28561176dup, NC_000001.10:g.28561175_28561176dup, NC_000001.10:g.28561174_28561176dup, NC_000001.10:g.28561173_28561176dup, NC_000001.10:g.28561172_28561176dup, NC_000001.10:g.28561171_28561176dup, NC_000001.10:g.28561170_28561176dup, NC_000001.10:g.28561169_28561176dup, NC_000001.10:g.28561166_28561176dup, NC_000001.10:g.28561163_28561176dup, NW_018654706.1:g.28292_28309del, NW_018654706.1:g.28295_28309del, NW_018654706.1:g.28296_28309del, NW_018654706.1:g.28297_28309del, NW_018654706.1:g.28298_28309del, NW_018654706.1:g.28299_28309del, NW_018654706.1:g.28300_28309del, NW_018654706.1:g.28301_28309del, NW_018654706.1:g.28303_28309del, NW_018654706.1:g.28304_28309del, NW_018654706.1:g.28305_28309del, NW_018654706.1:g.28306_28309del, NW_018654706.1:g.28307_28309del, NW_018654706.1:g.28308_28309del, NW_018654706.1:g.28309del, NW_018654706.1:g.28309dup, NW_018654706.1:g.28308_28309dup, NW_018654706.1:g.28307_28309dup, NW_018654706.1:g.28306_28309dup, NW_018654706.1:g.28305_28309dup, NW_018654706.1:g.28304_28309dup, NW_018654706.1:g.28303_28309dup, NW_018654706.1:g.28302_28309dup, NW_018654706.1:g.28299_28309dup, NW_018654706.1:g.28296_28309dup

Select item 148362826015.

rs1483628260 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:28237756 (GRCh38)
1:28564267 (GRCh37)
Canonical SPDI:: NC_000001.11:28237755:C:T
Gene:: ATP5IF1 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.28237756C>T, NC_000001.10:g.28564267C>T, NW_018654706.1:g.31400C>T, NM_178191.3:c.*1300C>T, NM_178191.2:c.*1300C>T

Select item 148266103916.

rs1482661039 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:28235373 (GRCh38)
1:28561884 (GRCh37)
Canonical SPDI:: NC_000001.11:28235372:T:C
Gene:: ATP5IF1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.28235373T>C, NC_000001.10:g.28561884T>C, NW_018654706.1:g.29017T>C

Select item 148164570917.

rs1481645709 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:28235693 (GRCh38)
1:28562204 (GRCh37)
Canonical SPDI:: NC_000001.11:28235692:A:G
Gene:: ATP5IF1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.28235693A>G, NC_000001.10:g.28562204A>G, NW_018654706.1:g.29337A>G

Select item 148050492318.

rs1480504923 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:28238102 (GRCh38)
1:28564613 (GRCh37)
Canonical SPDI:: NC_000001.11:28238101:T:C
Gene:: ATP5IF1 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.28238102T>C, NC_000001.10:g.28564613T>C, NW_018654706.1:g.31746T>C, NM_016311.4:c.*124T>C, NM_178191.2:c.*1646T>C, NM_178190.2:c.*305T>C

Select item 148021205119.

rs1480212051 [Homo sapiens]

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

Select item 147866903420.

rs1478669034 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:28238033 (GRCh38)
1:28564544 (GRCh37)
Canonical SPDI:: NC_000001.11:28238032:A:G
Gene:: ATP5IF1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.28238033A>G, NC_000001.10:g.28564544A>G, NW_018654706.1:g.31677A>G, NM_016311.5:c.*55A>G, NM_016311.4:c.*55A>G, NM_178191.3:c.*1577A>G, NM_178191.2:c.*1577A>G, NM_178190.3:c.*236A>G, NM_178190.2:c.*236A>G

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