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Select item 14914749101.

rs1491474910 has merged into rs1270640272 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>-,GG [Show Flanks]
Chromosome:: 19:1244012 (GRCh38)
19:1244011 (GRCh37)
Canonical SPDI:: NC_000019.10:1244011:GGGGG:GGGG,NC_000019.10:1244011:GGGGG:GGGGGG
Gene:: ATP5F1D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGGGG=0./0 (ALFA)
HGVS:: NC_000019.10:g.1244016del, NC_000019.10:g.1244016dup, NC_000019.9:g.1244015del, NC_000019.9:g.1244015dup

Select item 14914182682.

rs1491418268 has merged into rs532711518 [Homo sapiens]

Variant type:: DELINS
Alleles:: GC>- [Show Flanks]
Chromosome:: 19:1240773 (GRCh38)
19:1240772 (GRCh37)
Canonical SPDI:: NC_000019.10:1240771:CGC:C
Gene:: ATP5F1D (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
-=0.0007/48 (GnomAD)
-=0.05234/643 (TOMMO)
HGVS:: NC_000019.10:g.1240773_1240774del, NC_000019.9:g.1240772_1240773del

Select item 14913169033.

rs1491316903 has merged into rs1167336588 [Homo sapiens]

Variant type:: DELINS
Alleles:: CC>-,C,CCC,CCCC [Show Flanks]
Chromosome:: 19:1240775 (GRCh38)
19:1240774 (GRCh37)
Canonical SPDI:: NC_000019.10:1240773:CCC:C,NC_000019.10:1240773:CCC:CC,NC_000019.10:1240773:CCC:CCCC,NC_000019.10:1240773:CCC:CCCCC
Gene:: ATP5F1D (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
-=0.0001/2 (GnomAD)
HGVS:: NC_000019.10:g.1240775_1240776del, NC_000019.10:g.1240776del, NC_000019.10:g.1240776dup, NC_000019.10:g.1240775_1240776dup, NC_000019.9:g.1240774_1240775del, NC_000019.9:g.1240775del, NC_000019.9:g.1240775dup, NC_000019.9:g.1240774_1240775dup

Select item 14911514944.

rs1491151494 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 19:1240772 (GRCh38)
19:1240772 (GRCh37)
Canonical SPDI:: NC_000019.10:1240772:G:GG
Gene:: ATP5F1D (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
HGVS:: NC_000019.10:g.1240773dup, NC_000019.9:g.1240772dup

Select item 14908085025.

rs1490808502 has merged into rs1427301044 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC [Show Flanks]
Chromosome:: 19:1240529 (GRCh38)
19:1240528 (GRCh37)
Canonical SPDI:: NC_000019.10:1240528:CCCC:CCC,NC_000019.10:1240528:CCCC:CCCCC
Gene:: ATP5F1D (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCC=0./0 (ALFA)
HGVS:: NC_000019.10:g.1240532del, NC_000019.10:g.1240532dup, NC_000019.9:g.1240531del, NC_000019.9:g.1240531dup

Select item 14901390556.

rs1490139055 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:1243363 (GRCh38)
19:1243362 (GRCh37)
Canonical SPDI:: NC_000019.10:1243362:A:G
Gene:: ATP5F1D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000312/2 (1000Genomes)
HGVS:: NC_000019.10:g.1243363A>G, NC_000019.9:g.1243362A>G

Select item 14890321337.

rs1489032133 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:1240543 (GRCh38)
19:1240542 (GRCh37)
Canonical SPDI:: NC_000019.10:1240542:C:G,NC_000019.10:1240542:C:T
Gene:: ATP5F1D (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.1240543C>G, NC_000019.10:g.1240543C>T, NC_000019.9:g.1240542C>G, NC_000019.9:g.1240542C>T

Select item 14881514998.

rs1488151499 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:1241602 (GRCh38)
19:1241601 (GRCh37)
Canonical SPDI:: NC_000019.10:1241601:G:A
Gene:: ATP5F1D (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.1241602G>A, NC_000019.9:g.1241601G>A

Select item 14874306599.

rs1487430659 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:1240188 (GRCh38)
19:1240187 (GRCh37)
Canonical SPDI:: NC_000019.10:1240187:C:T
Gene:: ATP5F1D (Varview), CBARP (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_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_000019.10:g.1240188C>T, NC_000019.9:g.1240187C>T

Select item 148717043110.

rs1487170431 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:1241830 (GRCh38)
19:1241829 (GRCh37)
Canonical SPDI:: NC_000019.10:1241829:T:C
Gene:: ATP5F1D (Varview)
Functional Consequence:: 5_prime_UTR_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_000019.10:g.1241830T>C, NC_000019.9:g.1241829T>C, NM_001687.5:c.-21T>C, NM_001687.4:c.-21T>C, NM_001001975.2:c.-21T>C, NM_001001975.1:c.-21T>C

Select item 148681643311.

rs1486816433 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:1242776 (GRCh38)
19:1242775 (GRCh37)
Canonical SPDI:: NC_000019.10:1242775:G:A
Gene:: ATP5F1D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.1242776G>A, NC_000019.9:g.1242775G>A

Select item 148676488212.

rs1486764882 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 19:1245279 (GRCh38)
19:1245278 (GRCh37)
Canonical SPDI:: NC_000019.10:1245278:T:A,NC_000019.10:1245278:T:C
Gene:: ATP5F1D (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.1245279T>A, NC_000019.10:g.1245279T>C, NC_000019.9:g.1245278T>A, NC_000019.9:g.1245278T>C

Select item 148655673313.

rs1486556733 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:1239946 (GRCh38)
19:1239945 (GRCh37)
Canonical SPDI:: NC_000019.10:1239945:A:T
Gene:: ATP5F1D (Varview), CBARP (Varview), CBARP-DT (Varview)
Functional Consequence:: 2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000019.10:g.1239946A>T, NC_000019.9:g.1239945A>T

Select item 148629997614.

rs1486299976 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:1244822 (GRCh38)
19:1244821 (GRCh37)
Canonical SPDI:: NC_000019.10:1244821:C:G
Gene:: ATP5F1D (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.1244822C>G, NC_000019.9:g.1244821C>G, NM_001687.5:c.*385C>G, NM_001687.4:c.*385C>G, NM_001001975.2:c.*89C>G, NM_001001975.1:c.*89C>G

Select item 148528862815.

rs1485288628 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:1243811 (GRCh38)
19:1243810 (GRCh37)
Canonical SPDI:: NC_000019.10:1243810:C:T
Gene:: ATP5F1D (Varview)
Functional Consequence:: 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_000019.10:g.1243811C>T, NC_000019.9:g.1243810C>T

Select item 148483046716.

rs1484830467 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:1240782 (GRCh38)
19:1240781 (GRCh37)
Canonical SPDI:: NC_000019.10:1240781:C:T
Gene:: ATP5F1D (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_000019.10:g.1240782C>T, NC_000019.9:g.1240781C>T

Select item 148480884617.

rs1484808846 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:1243978 (GRCh38)
19:1243977 (GRCh37)
Canonical SPDI:: NC_000019.10:1243974:ACACA:ACA
Gene:: ATP5F1D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACA=0./0 (ALFA)
-=0.000026/7 (TOPMED)
-=0.000064/9 (GnomAD)
HGVS:: NC_000019.10:g.1243976CA[1], NC_000019.9:g.1243975CA[1]

Select item 148459847518.

rs1484598475 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:1240496 (GRCh38)
19:1240495 (GRCh37)
Canonical SPDI:: NC_000019.10:1240495:C:T
Gene:: ATP5F1D (Varview), CBARP (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.1240496C>T, NC_000019.9:g.1240495C>T

Select item 148430416119.

rs1484304161 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:1243181 (GRCh38)
19:1243180 (GRCh37)
Canonical SPDI:: NC_000019.10:1243180:A:T
Gene:: ATP5F1D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.1243181A>T, NC_000019.9:g.1243180A>T

Select item 148427065120.

rs1484270651 [Homo sapiens]

Variant type:: DEL
Alleles:: AAAG>- [Show Flanks]
Chromosome:: 19:1243730 (GRCh38)
19:1243729 (GRCh37)
Canonical SPDI:: NC_000019.10:1243729:AAAG:
Gene:: ATP5F1D (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000014/2 (GnomAD)
-=0.000034/9 (TOPMED)
HGVS:: NC_000019.10:g.1243730_1243733del, NC_000019.9:g.1243729_1243732del

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