SNP Links for Gene (Select 440574) - SNP

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Select item 14914644871.

rs1491464487 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 1:19611469 (GRCh38)
1:19937963 (GRCh37)
Canonical SPDI:: NC_000001.11:19611468:AT:
Gene:: MICOS10 (Varview), MICOS10-NBL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.0083/32 (ALSPAC)
-=0.0143/53 (TWINSUK)
HGVS:: NC_000001.11:g.19611469_19611470del, NC_000001.10:g.19937963_19937964del

Select item 14910752582.

rs1491075258 has merged into rs533840638 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:19628689 (GRCh38)
1:19955183 (GRCh37)
Canonical SPDI:: NC_000001.11:19628680:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000001.11:19628680:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:19628680:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:19628680:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:19628680:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:19628680:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:19628680:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:19628680:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:19628680:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:19628680:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:19628680:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:19628680:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:19628680:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:19628680:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:19628680:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:19628680:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:19628680:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:19628680:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:19628680:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:19628680:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:19628680:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: MICOS10 (Varview), MICOS10-NBL1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.19628689_19628701del, NC_000001.11:g.19628691_19628701del, NC_000001.11:g.19628692_19628701del, NC_000001.11:g.19628693_19628701del, NC_000001.11:g.19628694_19628701del, NC_000001.11:g.19628695_19628701del, NC_000001.11:g.19628696_19628701del, NC_000001.11:g.19628697_19628701del, NC_000001.11:g.19628698_19628701del, NC_000001.11:g.19628699_19628701del, NC_000001.11:g.19628700_19628701del, NC_000001.11:g.19628701del, NC_000001.11:g.19628701dup, NC_000001.11:g.19628700_19628701dup, NC_000001.11:g.19628699_19628701dup, NC_000001.11:g.19628698_19628701dup, NC_000001.11:g.19628697_19628701dup, NC_000001.11:g.19628696_19628701dup, NC_000001.11:g.19628684_19628701dup, NC_000001.11:g.19628701_19628702insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.19628701_19628702insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.19955183_19955195del, NC_000001.10:g.19955185_19955195del, NC_000001.10:g.19955186_19955195del, NC_000001.10:g.19955187_19955195del, NC_000001.10:g.19955188_19955195del, NC_000001.10:g.19955189_19955195del, NC_000001.10:g.19955190_19955195del, NC_000001.10:g.19955191_19955195del, NC_000001.10:g.19955192_19955195del, NC_000001.10:g.19955193_19955195del, NC_000001.10:g.19955194_19955195del, NC_000001.10:g.19955195del, NC_000001.10:g.19955195dup, NC_000001.10:g.19955194_19955195dup, NC_000001.10:g.19955193_19955195dup, NC_000001.10:g.19955192_19955195dup, NC_000001.10:g.19955191_19955195dup, NC_000001.10:g.19955190_19955195dup, NC_000001.10:g.19955178_19955195dup, NC_000001.10:g.19955195_19955196insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.19955195_19955196insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_001032363.4:c.*2288_*2300del, NM_001032363.4:c.*2290_*2300del, NM_001032363.4:c.*2291_*2300del, NM_001032363.4:c.*2292_*2300del, NM_001032363.4:c.*2293_*2300del, NM_001032363.4:c.*2294_*2300del, NM_001032363.4:c.*2295_*2300del, NM_001032363.4:c.*2296_*2300del, NM_001032363.4:c.*2297_*2300del, NM_001032363.4:c.*2298_*2300del, NM_001032363.4:c.*2299_*2300del, NM_001032363.4:c.*2300del, NM_001032363.4:c.*2300dup, NM_001032363.4:c.*2299_*2300dup, NM_001032363.4:c.*2298_*2300dup, NM_001032363.4:c.*2297_*2300dup, NM_001032363.4:c.*2296_*2300dup, NM_001032363.4:c.*2295_*2300dup, NM_001032363.4:c.*2283_*2300dup, NM_001032363.4:c.*2300_*2301insAAAAAAAAAAAAAAAAAAAAAAAAA, NM_001032363.4:c.*2300_*2301insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_001032363.3:c.*2288_*2300del, NM_001032363.3:c.*2290_*2300del, NM_001032363.3:c.*2291_*2300del, NM_001032363.3:c.*2292_*2300del, NM_001032363.3:c.*2293_*2300del, NM_001032363.3:c.*2294_*2300del, NM_001032363.3:c.*2295_*2300del, NM_001032363.3:c.*2296_*2300del, NM_001032363.3:c.*2297_*2300del, NM_001032363.3:c.*2298_*2300del, NM_001032363.3:c.*2299_*2300del, NM_001032363.3:c.*2300del, NM_001032363.3:c.*2300dup, NM_001032363.3:c.*2299_*2300dup, NM_001032363.3:c.*2298_*2300dup, NM_001032363.3:c.*2297_*2300dup, NM_001032363.3:c.*2296_*2300dup, NM_001032363.3:c.*2295_*2300dup, NM_001032363.3:c.*2283_*2300dup, NM_001032363.3:c.*2300_*2301insAAAAAAAAAAAAAAAAAAAAAAAAA, NM_001032363.3:c.*2300_*2301insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NR_033757.3:n.2777_2789del, NR_033757.3:n.2779_2789del, NR_033757.3:n.2780_2789del, NR_033757.3:n.2781_2789del, NR_033757.3:n.2782_2789del, NR_033757.3:n.2783_2789del, NR_033757.3:n.2784_2789del, NR_033757.3:n.2785_2789del, NR_033757.3:n.2786_2789del, NR_033757.3:n.2787_2789del, NR_033757.3:n.2788_2789del, NR_033757.3:n.2789del, NR_033757.3:n.2789dup, NR_033757.3:n.2788_2789dup, NR_033757.3:n.2787_2789dup, NR_033757.3:n.2786_2789dup, NR_033757.3:n.2785_2789dup, NR_033757.3:n.2784_2789dup, NR_033757.3:n.2772_2789dup, NR_033757.3:n.2789_2790insAAAAAAAAAAAAAAAAAAAAAAAAA, NR_033757.3:n.2789_2790insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NR_033757.2:n.2779_2791del, NR_033757.2:n.2781_2791del, NR_033757.2:n.2782_2791del, NR_033757.2:n.2783_2791del, NR_033757.2:n.2784_2791del, NR_033757.2:n.2785_2791del, NR_033757.2:n.2786_2791del, NR_033757.2:n.2787_2791del, NR_033757.2:n.2788_2791del, NR_033757.2:n.2789_2791del, NR_033757.2:n.2790_2791del, NR_033757.2:n.2791del, NR_033757.2:n.2791dup, NR_033757.2:n.2790_2791dup, NR_033757.2:n.2789_2791dup, NR_033757.2:n.2788_2791dup, NR_033757.2:n.2787_2791dup, NR_033757.2:n.2786_2791dup, NR_033757.2:n.2774_2791dup, NR_033757.2:n.2791_2792insAAAAAAAAAAAAAAAAAAAAAAAAA, NR_033757.2:n.2791_2792insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NR_033758.3:n.2671_2683del, NR_033758.3:n.2673_2683del, NR_033758.3:n.2674_2683del, NR_033758.3:n.2675_2683del, NR_033758.3:n.2676_2683del, NR_033758.3:n.2677_2683del, NR_033758.3:n.2678_2683del, NR_033758.3:n.2679_2683del, NR_033758.3:n.2680_2683del, NR_033758.3:n.2681_2683del, NR_033758.3:n.2682_2683del, NR_033758.3:n.2683del, NR_033758.3:n.2683dup, NR_033758.3:n.2682_2683dup, NR_033758.3:n.2681_2683dup, NR_033758.3:n.2680_2683dup, NR_033758.3:n.2679_2683dup, NR_033758.3:n.2678_2683dup, NR_033758.3:n.2666_2683dup, NR_033758.3:n.2683_2684insAAAAAAAAAAAAAAAAAAAAAAAAA, NR_033758.3:n.2683_2684insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NR_033758.2:n.2673_2685del, NR_033758.2:n.2675_2685del, NR_033758.2:n.2676_2685del, NR_033758.2:n.2677_2685del, NR_033758.2:n.2678_2685del, NR_033758.2:n.2679_2685del, NR_033758.2:n.2680_2685del, NR_033758.2:n.2681_2685del, NR_033758.2:n.2682_2685del, NR_033758.2:n.2683_2685del, NR_033758.2:n.2684_2685del, NR_033758.2:n.2685del, NR_033758.2:n.2685dup, NR_033758.2:n.2684_2685dup, NR_033758.2:n.2683_2685dup, NR_033758.2:n.2682_2685dup, NR_033758.2:n.2681_2685dup, NR_033758.2:n.2680_2685dup, NR_033758.2:n.2668_2685dup, NR_033758.2:n.2685_2686insAAAAAAAAAAAAAAAAAAAAAAAAA, NR_033758.2:n.2685_2686insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_001204083.2:c.*2343_*2355del, NM_001204083.2:c.*2345_*2355del, NM_001204083.2:c.*2346_*2355del, NM_001204083.2:c.*2347_*2355del, NM_001204083.2:c.*2348_*2355del, NM_001204083.2:c.*2349_*2355del, NM_001204083.2:c.*2350_*2355del, NM_001204083.2:c.*2351_*2355del, NM_001204083.2:c.*2352_*2355del, NM_001204083.2:c.*2353_*2355del, NM_001204083.2:c.*2354_*2355del, NM_001204083.2:c.*2355del, NM_001204083.2:c.*2355dup, NM_001204083.2:c.*2354_*2355dup, NM_001204083.2:c.*2353_*2355dup, NM_001204083.2:c.*2352_*2355dup, NM_001204083.2:c.*2351_*2355dup, NM_001204083.2:c.*2350_*2355dup, NM_001204083.2:c.*2338_*2355dup, NM_001204083.2:c.*2355_*2356insAAAAAAAAAAAAAAAAAAAAAAAAA, NM_001204083.2:c.*2355_*2356insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_001204083.1:c.*2343_*2355del, NM_001204083.1:c.*2345_*2355del, NM_001204083.1:c.*2346_*2355del, NM_001204083.1:c.*2347_*2355del, NM_001204083.1:c.*2348_*2355del, NM_001204083.1:c.*2349_*2355del, NM_001204083.1:c.*2350_*2355del, NM_001204083.1:c.*2351_*2355del, NM_001204083.1:c.*2352_*2355del, NM_001204083.1:c.*2353_*2355del, NM_001204083.1:c.*2354_*2355del, NM_001204083.1:c.*2355del, NM_001204083.1:c.*2355dup, NM_001204083.1:c.*2354_*2355dup, NM_001204083.1:c.*2353_*2355dup, NM_001204083.1:c.*2352_*2355dup, NM_001204083.1:c.*2351_*2355dup, NM_001204083.1:c.*2350_*2355dup, NM_001204083.1:c.*2338_*2355dup, NM_001204083.1:c.*2355_*2356insAAAAAAAAAAAAAAAAAAAAAAAAA, NM_001204083.1:c.*2355_*2356insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_001204082.2:c.*2288_*2300del, NM_001204082.2:c.*2290_*2300del, NM_001204082.2:c.*2291_*2300del, NM_001204082.2:c.*2292_*2300del, NM_001204082.2:c.*2293_*2300del, NM_001204082.2:c.*2294_*2300del, NM_001204082.2:c.*2295_*2300del, NM_001204082.2:c.*2296_*2300del, NM_001204082.2:c.*2297_*2300del, NM_001204082.2:c.*2298_*2300del, NM_001204082.2:c.*2299_*2300del, NM_001204082.2:c.*2300del, NM_001204082.2:c.*2300dup, NM_001204082.2:c.*2299_*2300dup, NM_001204082.2:c.*2298_*2300dup, NM_001204082.2:c.*2297_*2300dup, NM_001204082.2:c.*2296_*2300dup, NM_001204082.2:c.*2295_*2300dup, NM_001204082.2:c.*2283_*2300dup, NM_001204082.2:c.*2300_*2301insAAAAAAAAAAAAAAAAAAAAAAAAA, NM_001204082.2:c.*2300_*2301insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NM_001204082.1:c.*2288_*2300del, NM_001204082.1:c.*2290_*2300del, NM_001204082.1:c.*2291_*2300del, NM_001204082.1:c.*2292_*2300del, NM_001204082.1:c.*2293_*2300del, NM_001204082.1:c.*2294_*2300del, NM_001204082.1:c.*2295_*2300del, NM_001204082.1:c.*2296_*2300del, NM_001204082.1:c.*2297_*2300del, NM_001204082.1:c.*2298_*2300del, NM_001204082.1:c.*2299_*2300del, NM_001204082.1:c.*2300del, NM_001204082.1:c.*2300dup, NM_001204082.1:c.*2299_*2300dup, NM_001204082.1:c.*2298_*2300dup, NM_001204082.1:c.*2297_*2300dup, NM_001204082.1:c.*2296_*2300dup, NM_001204082.1:c.*2295_*2300dup, NM_001204082.1:c.*2283_*2300dup, NM_001204082.1:c.*2300_*2301insAAAAAAAAAAAAAAAAAAAAAAAAA, NM_001204082.1:c.*2300_*2301insAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14910425513.

rs1491042551 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 1:19622919 (GRCh38)
1:19949414 (GRCh37)
Canonical SPDI:: NC_000001.11:19622919:C:CC
Gene:: MICOS10 (Varview), MICOS10-NBL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000228/26 (GnomAD)
HGVS:: NC_000001.11:g.19622920dup, NC_000001.10:g.19949414dup

Select item 14908157584.

rs1490815758 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>- [Show Flanks]
Chromosome:: 1:19602390 (GRCh38)
1:19928884 (GRCh37)
Canonical SPDI:: NC_000001.11:19602389:TTTT:TTT
Gene:: MICOS10 (Varview), MICOS10-NBL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000026/7 (TOPMED)
HGVS:: NC_000001.11:g.19602393del, NC_000001.10:g.19928887del

Select item 14907468245.

rs1490746824 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:19617887 (GRCh38)
1:19944381 (GRCh37)
Canonical SPDI:: NC_000001.11:19617886:A:T
Gene:: MICOS10 (Varview), MICOS10-NBL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.19617887A>T, NC_000001.10:g.19944381A>T

Select item 14907214206.

rs1490721420 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:19616448 (GRCh38)
1:19942942 (GRCh37)
Canonical SPDI:: NC_000001.11:19616447:A:T
Gene:: MICOS10 (Varview), MICOS10-NBL1 (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_000001.11:g.19616448A>T, NC_000001.10:g.19942942A>T

Select item 14905815187.

rs1490581518 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:19626333 (GRCh38)
1:19952827 (GRCh37)
Canonical SPDI:: NC_000001.11:19626332:G:C
Gene:: MICOS10 (Varview), MICOS10-NBL1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000001.11:g.19626333G>C, NC_000001.10:g.19952827G>C

Select item 14903461778.

rs1490346177 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:19626180 (GRCh38)
1:19952674 (GRCh37)
Canonical SPDI:: NC_000001.11:19626179:C:T
Gene:: MICOS10 (Varview), MICOS10-NBL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.19626180C>T, NC_000001.10:g.19952674C>T

Select item 14902916639.

rs1490291663 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:19610902 (GRCh38)
1:19937396 (GRCh37)
Canonical SPDI:: NC_000001.11:19610901:A:C,NC_000001.11:19610901:A:G
Gene:: MICOS10 (Varview), MICOS10-NBL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.19610902A>C, NC_000001.11:g.19610902A>G, NC_000001.10:g.19937396A>C, NC_000001.10:g.19937396A>G

Select item 149009827910.

rs1490098279 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:19610175 (GRCh38)
1:19936669 (GRCh37)
Canonical SPDI:: NC_000001.11:19610174:A:G
Gene:: MICOS10 (Varview), MICOS10-NBL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.19610175A>G, NC_000001.10:g.19936669A>G

Select item 149009271411.

rs1490092714 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:19627341 (GRCh38)
1:19953835 (GRCh37)
Canonical SPDI:: NC_000001.11:19627340:A:G
Gene:: MICOS10 (Varview), MICOS10-NBL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000019/5 (TOPMED)
G=0.000036/5 (GnomAD)
HGVS:: NC_000001.11:g.19627341A>G, NC_000001.10:g.19953835A>G, NM_001032363.4:c.*940A>G, NM_001032363.3:c.*940A>G, NR_033757.3:n.1429A>G, NR_033757.2:n.1431A>G, NR_033758.3:n.1323A>G, NR_033758.2:n.1325A>G, NM_001204083.2:c.*995A>G, NM_001204083.1:c.*995A>G, NM_001204082.2:c.*940A>G, NM_001204082.1:c.*940A>G

Select item 148996908712.

rs1489969087 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:19601799 (GRCh38)
1:19928293 (GRCh37)
Canonical SPDI:: NC_000001.11:19601798:A:G
Gene:: MICOS10 (Varview), MICOS10-NBL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000001.11:g.19601799A>G, NC_000001.10:g.19928293A>G

Select item 148983864813.

rs1489838648 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:19625754 (GRCh38)
1:19952248 (GRCh37)
Canonical SPDI:: NC_000001.11:19625753:T:G
Gene:: MICOS10 (Varview), MICOS10-NBL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.19625754T>G, NC_000001.10:g.19952248T>G

Select item 148978534514.

rs1489785345 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:19611714 (GRCh38)
1:19938208 (GRCh37)
Canonical SPDI:: NC_000001.11:19611713:A:G
Gene:: MICOS10 (Varview), MICOS10-NBL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000021/3 (GnomAD)
HGVS:: NC_000001.11:g.19611714A>G, NC_000001.10:g.19938208A>G

Select item 148977620015.

rs1489776200 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:19629610 (GRCh38)
1:19956104 (GRCh37)
Canonical SPDI:: NC_000001.11:19629609:G:A
Gene:: MICOS10 (Varview), MICOS10-NBL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.19629610G>A, NC_000001.10:g.19956104G>A, NM_001032363.4:c.*3209G>A, NM_001032363.3:c.*3209G>A, NR_033757.3:n.3698G>A, NR_033757.2:n.3700G>A, NR_033758.3:n.3592G>A, NR_033758.2:n.3594G>A, NM_001204083.2:c.*3264G>A, NM_001204083.1:c.*3264G>A, NM_001204082.2:c.*3209G>A, NM_001204082.1:c.*3209G>A

Select item 148974838616.

rs1489748386 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:19627387 (GRCh38)
1:19953881 (GRCh37)
Canonical SPDI:: NC_000001.11:19627386:C:T
Gene:: MICOS10 (Varview), MICOS10-NBL1 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.19627387C>T, NC_000001.10:g.19953881C>T, NM_001032363.4:c.*986C>T, NM_001032363.3:c.*986C>T, NR_033757.3:n.1475C>T, NR_033757.2:n.1477C>T, NR_033758.3:n.1369C>T, NR_033758.2:n.1371C>T, NM_001204083.2:c.*1041C>T, NM_001204083.1:c.*1041C>T, NM_001204082.2:c.*986C>T, NM_001204082.1:c.*986C>T

Select item 148961420417.

rs1489614204 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:19601592 (GRCh38)
1:19928086 (GRCh37)
Canonical SPDI:: NC_000001.11:19601591:G:A,NC_000001.11:19601591:G:T
Gene:: MICOS10 (Varview), MICOS10-NBL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000015/2 (GnomAD)
A=0.001092/2 (Korea1K)
A=0.00499/84 (TOMMO)
A=0.028405/83 (KOREAN)
G=0.5/2 (SGDP_PRJ)
HGVS:: NC_000001.11:g.19601592G>A, NC_000001.11:g.19601592G>T, NC_000001.10:g.19928086G>A, NC_000001.10:g.19928086G>T

Select item 148956229818.

rs1489562298 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:19603907 (GRCh38)
1:19930401 (GRCh37)
Canonical SPDI:: NC_000001.11:19603906:C:T
Gene:: MICOS10 (Varview), MICOS10-NBL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.19603907C>T, NC_000001.10:g.19930401C>T

Select item 148939990419.

rs1489399904 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:19614511 (GRCh38)
1:19941005 (GRCh37)
Canonical SPDI:: NC_000001.11:19614510:G:T
Gene:: MICOS10 (Varview), MICOS10-NBL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.19614511G>T, NC_000001.10:g.19941005G>T

Select item 148935270220.

rs1489352702 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 1:19620596 (GRCh38)
1:19947090 (GRCh37)
Canonical SPDI:: NC_000001.11:19620595:C:A,NC_000001.11:19620595:C:T
Gene:: MICOS10 (Varview), MICOS10-NBL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000001.11:g.19620596C>A, NC_000001.11:g.19620596C>T, NC_000001.10:g.19947090C>A, NC_000001.10:g.19947090C>T

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