SNP Links for Gene (Select 26789) - SNP

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Select item 14872949911.

rs1487294991 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:56646462 (GRCh38)
12:57040246 (GRCh37)
Canonical SPDI:: NC_000012.12:56646461:C:T
Gene:: ATP5F1B (Varview), SNORD59A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.56646462C>T, NC_000012.11:g.57040246C>T

Select item 14865582042.

rs1486558204 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:56646874 (GRCh38)
12:57040658 (GRCh37)
Canonical SPDI:: NC_000012.12:56646873:A:G
Gene:: ATP5F1B (Varview), SNORD59A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.00438/52 (ALFA)
HGVS:: NC_000012.12:g.56646874A>G, NC_000012.11:g.57040658A>G

Select item 14852970033.

rs1485297003 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:56647045 (GRCh38)
12:57040829 (GRCh37)
Canonical SPDI:: NC_000012.12:56647044:G:C
Gene:: ATP5F1B (Varview), SNORD59A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0.000084/1 (ALFA)
C=0.000022/3 (GnomAD)
HGVS:: NC_000012.12:g.56647045G>C, NC_000012.11:g.57040829G>C

Select item 14851229544.

rs1485122954 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:56645832 (GRCh38)
12:57039616 (GRCh37)
Canonical SPDI:: NC_000012.12:56645831:C:T
Gene:: ATP5F1B (Varview), SNORD59A (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000012.12:g.56645832C>T, NC_000012.11:g.57039616C>T

Select item 14842565075.

rs1484256507 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 12:56645493 (GRCh38)
12:57039277 (GRCh37)
Canonical SPDI:: NC_000012.12:56645492:G:A,NC_000012.12:56645492:G:T
Gene:: ATP5F1B (Varview), SNORD59A (Varview), SNORD59B (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00008/1 (ALFA)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000012.12:g.56645493G>A, NC_000012.12:g.56645493G>T, NC_000012.11:g.57039277G>A, NC_000012.11:g.57039277G>T

Select item 14833236206.

rs1483323620 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:56644643 (GRCh38)
12:57038427 (GRCh37)
Canonical SPDI:: NC_000012.12:56644642:G:A
Gene:: ATP5F1B (Varview), SNORD59A (Varview), SNORD59B (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.56644643G>A, NC_000012.11:g.57038427G>A

Select item 14831197187.

rs1483119718 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:56645402 (GRCh38)
12:57039186 (GRCh37)
Canonical SPDI:: NC_000012.12:56645401:G:A
Gene:: ATP5F1B (Varview), SNORD59A (Varview), SNORD59B (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.56645402G>A, NC_000012.11:g.57039186G>A

Select item 14824897608.

rs1482489760 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:56645926 (GRCh38)
12:57039710 (GRCh37)
Canonical SPDI:: NC_000012.12:56645925:G:A
Gene:: ATP5F1B (Varview), SNORD59A (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.56645926G>A, NC_000012.11:g.57039710G>A, NM_001686.4:c.38C>T, NM_001686.3:c.38C>T, NP_001677.2:p.Ala13Val

Select item 14822909809.

rs1482290980 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 12:56646328 (GRCh38)
12:57040112 (GRCh37)
Canonical SPDI:: NC_000012.12:56646327:T:G
Gene:: ATP5F1B (Varview), SNORD59A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.56646328T>G, NC_000012.11:g.57040112T>G

Select item 148223255010.

rs1482232550 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:56646798 (GRCh38)
12:57040582 (GRCh37)
Canonical SPDI:: NC_000012.12:56646797:G:C
Gene:: ATP5F1B (Varview), SNORD59A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.56646798G>C, NC_000012.11:g.57040582G>C

Select item 147921647911.

rs1479216479 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 12:56647082 (GRCh38)
12:57040866 (GRCh37)
Canonical SPDI:: NC_000012.12:56647081:G:A,NC_000012.12:56647081:G:C
Gene:: ATP5F1B (Varview), SNORD59A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.56647082G>A, NC_000012.12:g.56647082G>C, NC_000012.11:g.57040866G>A, NC_000012.11:g.57040866G>C

Select item 147786335912.

rs1477863359 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:56646018 (GRCh38)
12:57039802 (GRCh37)
Canonical SPDI:: NC_000012.12:56646017:T:C
Gene:: ATP5F1B (Varview), SNORD59A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000066/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000012.12:g.56646018T>C, NC_000012.11:g.57039802T>C, NM_001686.3:c.-55A>G

Select item 147759108713.

rs1477591087 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:56646139 (GRCh38)
12:57039923 (GRCh37)
Canonical SPDI:: NC_000012.12:56646138:C:G
Gene:: ATP5F1B (Varview), SNORD59A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
G=0.001667/1 (NorthernSweden)
HGVS:: NC_000012.12:g.56646139C>G, NC_000012.11:g.57039923C>G

Select item 147632421814.

rs1476324218 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 12:56645971 (GRCh38)
12:57039755 (GRCh37)
Canonical SPDI:: NC_000012.12:56645970:T:A,NC_000012.12:56645970:T:C,NC_000012.12:56645970:T:G
Gene:: ATP5F1B (Varview), SNORD59A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000014/3 (GnomAD_exomes)
HGVS:: NC_000012.12:g.56645971T>A, NC_000012.12:g.56645971T>C, NC_000012.12:g.56645971T>G, NC_000012.11:g.57039755T>A, NC_000012.11:g.57039755T>C, NC_000012.11:g.57039755T>G, NM_001686.4:c.-8A>T, NM_001686.4:c.-8A>G, NM_001686.4:c.-8A>C, NM_001686.3:c.-8A>T, NM_001686.3:c.-8A>G, NM_001686.3:c.-8A>C

Select item 147614682615.

rs1476146826 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 12:56646929 (GRCh38)
12:57040713 (GRCh37)
Canonical SPDI:: NC_000012.12:56646928:C:
Gene:: ATP5F1B (Varview), SNORD59A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.56646929del, NC_000012.11:g.57040713del

Select item 147573118916.

rs1475731189 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:56645211 (GRCh38)
12:57038995 (GRCh37)
Canonical SPDI:: NC_000012.12:56645210:G:T
Gene:: ATP5F1B (Varview), SNORD59A (Varview), SNORD59B (Varview)
Functional Consequence:: coding_sequence_variant,upstream_transcript_variant,2KB_upstream_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.56645211G>T, NC_000012.11:g.57038995G>T, NM_001686.4:c.270C>A, NM_001686.3:c.270C>A

Select item 147432360817.

rs1474323608 [Homo sapiens]

Variant type:: DELINS
Alleles:: AACAAACTCTACT>- [Show Flanks]
Chromosome:: 12:56645155 (GRCh38)
12:57038939 (GRCh37)
Canonical SPDI:: NC_000012.12:56645152:CTAACAAACTCTACT:CT
Gene:: ATP5F1B (Varview), SNORD59A (Varview), SNORD59B (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: CT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.56645155_56645167del, NC_000012.11:g.57038939_57038951del

Select item 147384058218.

rs1473840582 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:56645557 (GRCh38)
12:57039341 (GRCh37)
Canonical SPDI:: NC_000012.12:56645556:A:G
Gene:: ATP5F1B (Varview), SNORD59A (Varview), SNORD59B (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000142/2 (TOMMO)
HGVS:: NC_000012.12:g.56645557A>G, NC_000012.11:g.57039341A>G

Select item 147308146119.

rs1473081461 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:56646781 (GRCh38)
12:57040565 (GRCh37)
Canonical SPDI:: NC_000012.12:56646780:T:C
Gene:: ATP5F1B (Varview), SNORD59A (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.56646781T>C, NC_000012.11:g.57040565T>C

Select item 147290938320.

rs1472909383 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 12:56644811 (GRCh38)
12:57038595 (GRCh37)
Canonical SPDI:: NC_000012.12:56644810:A:C,NC_000012.12:56644810:A:G
Gene:: ATP5F1B (Varview), SNORD59A (Varview), SNORD59B (Varview)
Functional Consequence:: upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,missense_variant,500B_downstream_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
C=0.000071/1 (TOMMO)
HGVS:: NC_000012.12:g.56644811A>C, NC_000012.12:g.56644811A>G, NC_000012.11:g.57038595A>C, NC_000012.11:g.57038595A>G, NM_001686.4:c.455T>G, NM_001686.4:c.455T>C, NM_001686.3:c.455T>G, NM_001686.3:c.455T>C, NP_001677.2:p.Ile152Ser, NP_001677.2:p.Ile152Thr

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