SNP Links for Gene (Select 100532736) - 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 14912460402.

rs1491246040 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 1:19632251 (GRCh38)
1:19958745 (GRCh37)
Canonical SPDI:: NC_000001.11:19632250:CG:
Gene:: MICOS10-NBL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00003/3 (GnomAD)
-=0.00042/7 (TOMMO)
HGVS:: NC_000001.11:g.19632251_19632252del, NC_000001.10:g.19958745_19958746del

Select item 14910752583.

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 14910657694.

rs1491065769 has merged into rs11386998 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 1:19632719 (GRCh38)
1:19959213 (GRCh37)
Canonical SPDI:: NC_000001.11:19632710:TTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000001.11:19632710:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:19632710:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:19632710:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:19632710:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:19632710:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:19632710:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000001.11:19632710:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:19632710:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:19632710:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:19632710:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:19632710:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:19632710:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:19632710:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: MICOS10-NBL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.100439/503 (1000Genomes)
T=0.375/3 (KOREAN)
HGVS:: NC_000001.11:g.19632719_19632729del, NC_000001.11:g.19632720_19632729del, NC_000001.11:g.19632723_19632729del, NC_000001.11:g.19632725_19632729del, NC_000001.11:g.19632727_19632729del, NC_000001.11:g.19632728_19632729del, NC_000001.11:g.19632729del, NC_000001.11:g.19632729dup, NC_000001.11:g.19632728_19632729dup, NC_000001.11:g.19632727_19632729dup, NC_000001.11:g.19632726_19632729dup, NC_000001.11:g.19632725_19632729dup, NC_000001.11:g.19632724_19632729dup, NC_000001.11:g.19632722_19632729dup, NC_000001.10:g.19959213_19959223del, NC_000001.10:g.19959214_19959223del, NC_000001.10:g.19959217_19959223del, NC_000001.10:g.19959219_19959223del, NC_000001.10:g.19959221_19959223del, NC_000001.10:g.19959222_19959223del, NC_000001.10:g.19959223del, NC_000001.10:g.19959223dup, NC_000001.10:g.19959222_19959223dup, NC_000001.10:g.19959221_19959223dup, NC_000001.10:g.19959220_19959223dup, NC_000001.10:g.19959219_19959223dup, NC_000001.10:g.19959218_19959223dup, NC_000001.10:g.19959216_19959223dup

Select item 14910425515.

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 14909714366.

rs1490971436 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 1:19658043 (GRCh38)
1:19984536 (GRCh37)
Canonical SPDI:: NC_000001.11:19658042:A:
Gene:: NBL1 (Varview), MICOS10-NBL1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.19658043del, NC_000001.10:g.19984536del, NM_005380.8:c.*914del, NM_005380.7:c.*914del, NM_182744.4:c.*914del, NM_182744.3:c.*914del, NM_001204086.3:c.*914del, NM_001204086.2:c.*914del, NM_001204084.3:c.*914del, NM_001204084.2:c.*914del, NM_001204088.2:c.*914del, NM_001204088.1:c.*914del, NM_001278165.2:c.*914del, NM_001278165.1:c.*914del, NM_001204085.2:c.*914del, NM_001204085.1:c.*914del, NM_001278164.2:c.*914del, NM_001278164.1:c.*914del, NM_001204089.2:c.*914del, NM_001204089.1:c.*914del, NM_001278166.2:c.*914del, NM_001278166.1:c.*914del

Select item 14908157587.

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 14907771988.

rs1490777198 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:19644214 (GRCh38)
1:19970708 (GRCh37)
Canonical SPDI:: NC_000001.11:19644213:C:T
Gene:: NBL1 (Varview), MICOS10-NBL1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000001.11:g.19644214C>T, NC_000001.10:g.19970708C>T, NM_005380.7:c.-252C>T

Select item 14907468249.

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 149072142010.

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 149070161811.

rs1490701618 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:19647077 (GRCh38)
1:19973571 (GRCh37)
Canonical SPDI:: NC_000001.11:19647076:T:C
Gene:: NBL1 (Varview), MICOS10-NBL1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.19647077T>C, NC_000001.10:g.19973571T>C

Select item 149069360612.

rs1490693606 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:19633314 (GRCh38)
1:19959808 (GRCh37)
Canonical SPDI:: NC_000001.11:19633313:T:C
Gene:: MICOS10-NBL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.19633314T>C, NC_000001.10:g.19959808T>C

Select item 149066880313.

rs1490668803 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 1:19639467 (GRCh38)
1:19965961 (GRCh37)
Canonical SPDI:: NC_000001.11:19639466:C:G,NC_000001.11:19639466:C:T
Gene:: MICOS10-NBL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000001.11:g.19639467C>G, NC_000001.11:g.19639467C>T, NC_000001.10:g.19965961C>G, NC_000001.10:g.19965961C>T

Select item 149058151814.

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 149057886415.

rs1490578864 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:19653359 (GRCh38)
1:19979852 (GRCh37)
Canonical SPDI:: NC_000001.11:19653358:T:G
Gene:: NBL1 (Varview), MICOS10-NBL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.19653359T>G, NC_000001.10:g.19979852T>G

Select item 149055669016.

rs1490556690 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:19640404 (GRCh38)
1:19966898 (GRCh37)
Canonical SPDI:: NC_000001.11:19640403:G:T
Gene:: MICOS10-NBL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000001.11:g.19640404G>T, NC_000001.10:g.19966898G>T

Select item 149052371717.

rs1490523717 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:19654350 (GRCh38)
1:19980843 (GRCh37)
Canonical SPDI:: NC_000001.11:19654349:C:T
Gene:: NBL1 (Varview), MICOS10-NBL1 (Varview)
Functional Consequence:: 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.19654350C>T, NC_000001.10:g.19980843C>T

Select item 149034617718.

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 149029166319.

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 149009827920.

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

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