SNP Links for Nucleotide (Select 226061010) - SNP

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Links from Nucleotide

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Select item 14892189821.

rs1489218982 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATG>- [Show Flanks]
Chromosome:: 10:80048669 (GRCh38)
10:81808425 (GRCh37)
Canonical SPDI:: NC_000010.11:80048666:TGATG:TG
Gene:: TMEM254-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: TG=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.80048669_80048671del, NC_000010.10:g.81808425_81808427del, NR_027431.3:n.1373_1375del, NR_027431.2:n.1373_1375del, NR_027428.1:n.1610_1612del, NR_027429.1:n.1523_1525del, NR_027430.1:n.1399_1401del, NR_027432.1:n.1286_1288del

Select item 14889984142.

rs1488998414 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:80079123 (GRCh38)
10:81838879 (GRCh37)
Canonical SPDI:: NC_000010.11:80079122:A:G
Gene:: TMEM254 (Varview), TMEM254-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.80079123A>G, NC_000010.10:g.81838879A>G, XM_011540192.4:c.98A>G, XM_011540192.3:c.98A>G, XM_011540192.2:c.98A>G, XM_011540192.1:c.98A>G, NR_027431.3:n.71T>C, NR_027431.2:n.71T>C, NR_027428.1:n.71T>C, NR_027429.1:n.71T>C, NR_027430.1:n.71T>C, NR_027432.1:n.71T>C, NM_001270369.1:c.98A>G, NM_001270368.1:c.98A>G, NM_001270367.1:c.98A>G, XP_011538494.1:p.Tyr33Cys, NP_001257298.1:p.Tyr33Cys, NP_001257297.1:p.Tyr33Cys, NP_001257296.1:p.Tyr33Cys

Select item 14889785593.

rs1488978559 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 10:80079128 (GRCh38)
10:81838884 (GRCh37)
Canonical SPDI:: NC_000010.11:80079127:C:G,NC_000010.11:80079127:C:T
Gene:: TMEM254 (Varview), TMEM254-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD_exomes)
G=0.000008/2 (TOPMED)
G=0.000156/1 (1000Genomes)
HGVS:: NC_000010.11:g.80079128C>G, NC_000010.11:g.80079128C>T, NC_000010.10:g.81838884C>G, NC_000010.10:g.81838884C>T, XM_011540192.4:c.103C>G, XM_011540192.4:c.103C>T, XM_011540192.3:c.103C>G, XM_011540192.3:c.103C>T, XM_011540192.2:c.103C>G, XM_011540192.2:c.103C>T, XM_011540192.1:c.103C>G, XM_011540192.1:c.103C>T, NR_027431.3:n.66G>C, NR_027431.3:n.66G>A, NR_027431.2:n.66G>C, NR_027431.2:n.66G>A, NR_027428.1:n.66G>C, NR_027428.1:n.66G>A, NR_027429.1:n.66G>C, NR_027429.1:n.66G>A, NR_027430.1:n.66G>C, NR_027430.1:n.66G>A, NR_027432.1:n.66G>C, NR_027432.1:n.66G>A, NM_001270369.1:c.103C>G, NM_001270369.1:c.103C>T, NM_001270368.1:c.103C>G, NM_001270368.1:c.103C>T, NM_001270367.1:c.103C>G, NM_001270367.1:c.103C>T, XP_011538494.1:p.Arg35Gly, XP_011538494.1:p.Arg35Cys, NP_001257298.1:p.Arg35Gly, NP_001257298.1:p.Arg35Cys, NP_001257297.1:p.Arg35Gly, NP_001257297.1:p.Arg35Cys, NP_001257296.1:p.Arg35Gly, NP_001257296.1:p.Arg35Cys

Select item 14875899754.

rs1487589975 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 10:80048675 (GRCh38)
10:81808431 (GRCh37)
Canonical SPDI:: NC_000010.11:80048674:T:C
Gene:: TMEM254-AS1 (Varview)
Functional Consequence:: non_coding_transcript_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_000010.11:g.80048675T>C, NC_000010.10:g.81808431T>C, NR_027431.3:n.1367A>G, NR_027431.2:n.1367A>G, NR_027428.1:n.1604A>G, NR_027429.1:n.1517A>G, NR_027430.1:n.1393A>G, NR_027432.1:n.1280A>G

Select item 14869313335.

rs1486931333 has merged into rs60118205 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 10:80047704 (GRCh38)
10:81807460 (GRCh37)
Canonical SPDI:: NC_000010.11:80047693:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000010.11:80047693:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:80047693:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:80047693:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:80047693:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:80047693:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:80047693:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:80047693:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:80047693:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:80047693:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:80047693:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:80047693:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80047693:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80047693:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80047693:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80047693:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80047693:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80047693:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80047693:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80047693:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80047693:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80047693:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80047693:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:80047693:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TMEM254-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.80047704_80047721del, NC_000010.11:g.80047705_80047721del, NC_000010.11:g.80047706_80047721del, NC_000010.11:g.80047707_80047721del, NC_000010.11:g.80047708_80047721del, NC_000010.11:g.80047709_80047721del, NC_000010.11:g.80047710_80047721del, NC_000010.11:g.80047711_80047721del, NC_000010.11:g.80047712_80047721del, NC_000010.11:g.80047713_80047721del, NC_000010.11:g.80047714_80047721del, NC_000010.11:g.80047715_80047721del, NC_000010.11:g.80047716_80047721del, NC_000010.11:g.80047718_80047721del, NC_000010.11:g.80047720_80047721del, NC_000010.11:g.80047721del, NC_000010.11:g.80047721dup, NC_000010.11:g.80047720_80047721dup, NC_000010.11:g.80047719_80047721dup, NC_000010.11:g.80047718_80047721dup, NC_000010.11:g.80047717_80047721dup, NC_000010.11:g.80047716_80047721dup, NC_000010.11:g.80047715_80047721dup, NC_000010.11:g.80047714_80047721dup, NC_000010.10:g.81807460_81807477del, NC_000010.10:g.81807461_81807477del, NC_000010.10:g.81807462_81807477del, NC_000010.10:g.81807463_81807477del, NC_000010.10:g.81807464_81807477del, NC_000010.10:g.81807465_81807477del, NC_000010.10:g.81807466_81807477del, NC_000010.10:g.81807467_81807477del, NC_000010.10:g.81807468_81807477del, NC_000010.10:g.81807469_81807477del, NC_000010.10:g.81807470_81807477del, NC_000010.10:g.81807471_81807477del, NC_000010.10:g.81807472_81807477del, NC_000010.10:g.81807474_81807477del, NC_000010.10:g.81807476_81807477del, NC_000010.10:g.81807477del, NC_000010.10:g.81807477dup, NC_000010.10:g.81807476_81807477dup, NC_000010.10:g.81807475_81807477dup, NC_000010.10:g.81807474_81807477dup, NC_000010.10:g.81807473_81807477dup, NC_000010.10:g.81807472_81807477dup, NC_000010.10:g.81807471_81807477dup, NC_000010.10:g.81807470_81807477dup, NR_027431.3:n.2331_2348del, NR_027431.3:n.2332_2348del, NR_027431.3:n.2333_2348del, NR_027431.3:n.2334_2348del, NR_027431.3:n.2335_2348del, NR_027431.3:n.2336_2348del, NR_027431.3:n.2337_2348del, NR_027431.3:n.2338_2348del, NR_027431.3:n.2339_2348del, NR_027431.3:n.2340_2348del, NR_027431.3:n.2341_2348del, NR_027431.3:n.2342_2348del, NR_027431.3:n.2343_2348del, NR_027431.3:n.2345_2348del, NR_027431.3:n.2347_2348del, NR_027431.3:n.2348del, NR_027431.3:n.2348dup, NR_027431.3:n.2347_2348dup, NR_027431.3:n.2346_2348dup, NR_027431.3:n.2345_2348dup, NR_027431.3:n.2344_2348dup, NR_027431.3:n.2343_2348dup, NR_027431.3:n.2342_2348dup, NR_027431.3:n.2341_2348dup, NR_027431.2:n.2331_2348del, NR_027431.2:n.2332_2348del, NR_027431.2:n.2333_2348del, NR_027431.2:n.2334_2348del, NR_027431.2:n.2335_2348del, NR_027431.2:n.2336_2348del, NR_027431.2:n.2337_2348del, NR_027431.2:n.2338_2348del, NR_027431.2:n.2339_2348del, NR_027431.2:n.2340_2348del, NR_027431.2:n.2341_2348del, NR_027431.2:n.2342_2348del, NR_027431.2:n.2343_2348del, NR_027431.2:n.2345_2348del, NR_027431.2:n.2347_2348del, NR_027431.2:n.2348del, NR_027431.2:n.2348dup, NR_027431.2:n.2347_2348dup, NR_027431.2:n.2346_2348dup, NR_027431.2:n.2345_2348dup, NR_027431.2:n.2344_2348dup, NR_027431.2:n.2343_2348dup, NR_027431.2:n.2342_2348dup, NR_027431.2:n.2341_2348dup, NR_027428.1:n.2568_2585del, NR_027428.1:n.2569_2585del, NR_027428.1:n.2570_2585del, NR_027428.1:n.2571_2585del, NR_027428.1:n.2572_2585del, NR_027428.1:n.2573_2585del, NR_027428.1:n.2574_2585del, NR_027428.1:n.2575_2585del, NR_027428.1:n.2576_2585del, NR_027428.1:n.2577_2585del, NR_027428.1:n.2578_2585del, NR_027428.1:n.2579_2585del, NR_027428.1:n.2580_2585del, NR_027428.1:n.2582_2585del, NR_027428.1:n.2584_2585del, NR_027428.1:n.2585del, NR_027428.1:n.2585dup, NR_027428.1:n.2584_2585dup, NR_027428.1:n.2583_2585dup, NR_027428.1:n.2582_2585dup, NR_027428.1:n.2581_2585dup, NR_027428.1:n.2580_2585dup, NR_027428.1:n.2579_2585dup, NR_027428.1:n.2578_2585dup, NR_027429.1:n.2481_2498del, NR_027429.1:n.2482_2498del, NR_027429.1:n.2483_2498del, NR_027429.1:n.2484_2498del, NR_027429.1:n.2485_2498del, NR_027429.1:n.2486_2498del, NR_027429.1:n.2487_2498del, NR_027429.1:n.2488_2498del, NR_027429.1:n.2489_2498del, NR_027429.1:n.2490_2498del, NR_027429.1:n.2491_2498del, NR_027429.1:n.2492_2498del, NR_027429.1:n.2493_2498del, NR_027429.1:n.2495_2498del, NR_027429.1:n.2497_2498del, NR_027429.1:n.2498del, NR_027429.1:n.2498dup, NR_027429.1:n.2497_2498dup, NR_027429.1:n.2496_2498dup, NR_027429.1:n.2495_2498dup, NR_027429.1:n.2494_2498dup, NR_027429.1:n.2493_2498dup, NR_027429.1:n.2492_2498dup, NR_027429.1:n.2491_2498dup, NR_027430.1:n.2357_2374del, NR_027430.1:n.2358_2374del, NR_027430.1:n.2359_2374del, NR_027430.1:n.2360_2374del, NR_027430.1:n.2361_2374del, NR_027430.1:n.2362_2374del, NR_027430.1:n.2363_2374del, NR_027430.1:n.2364_2374del, NR_027430.1:n.2365_2374del, NR_027430.1:n.2366_2374del, NR_027430.1:n.2367_2374del, NR_027430.1:n.2368_2374del, NR_027430.1:n.2369_2374del, NR_027430.1:n.2371_2374del, NR_027430.1:n.2373_2374del, NR_027430.1:n.2374del, NR_027430.1:n.2374dup, NR_027430.1:n.2373_2374dup, NR_027430.1:n.2372_2374dup, NR_027430.1:n.2371_2374dup, NR_027430.1:n.2370_2374dup, NR_027430.1:n.2369_2374dup, NR_027430.1:n.2368_2374dup, NR_027430.1:n.2367_2374dup, NR_027432.1:n.2244_2261del, NR_027432.1:n.2245_2261del, NR_027432.1:n.2246_2261del, NR_027432.1:n.2247_2261del, NR_027432.1:n.2248_2261del, NR_027432.1:n.2249_2261del, NR_027432.1:n.2250_2261del, NR_027432.1:n.2251_2261del, NR_027432.1:n.2252_2261del, NR_027432.1:n.2253_2261del, NR_027432.1:n.2254_2261del, NR_027432.1:n.2255_2261del, NR_027432.1:n.2256_2261del, NR_027432.1:n.2258_2261del, NR_027432.1:n.2260_2261del, NR_027432.1:n.2261del, NR_027432.1:n.2261dup, NR_027432.1:n.2260_2261dup, NR_027432.1:n.2259_2261dup, NR_027432.1:n.2258_2261dup, NR_027432.1:n.2257_2261dup, NR_027432.1:n.2256_2261dup, NR_027432.1:n.2255_2261dup, NR_027432.1:n.2254_2261dup

Select item 14859563066.

rs1485956306 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:80048036 (GRCh38)
10:81807792 (GRCh37)
Canonical SPDI:: NC_000010.11:80048035:A:G
Gene:: TMEM254-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.80048036A>G, NC_000010.10:g.81807792A>G, NR_027431.3:n.2006T>C, NR_027431.2:n.2006T>C, NR_027428.1:n.2243T>C, NR_027429.1:n.2156T>C, NR_027430.1:n.2032T>C, NR_027432.1:n.1919T>C

Select item 14852972557.

rs1485297255 [Homo sapiens]

Variant type:: DEL
Alleles:: C>- [Show Flanks]
Chromosome:: 10:80047225 (GRCh38)
10:81806981 (GRCh37)
Canonical SPDI:: NC_000010.11:80047224:C:
Gene:: TMEM254-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.80047225del, NC_000010.10:g.81806981del, NR_027431.3:n.2817del, NR_027431.2:n.2817del, NR_027428.1:n.3054del, NR_027429.1:n.2967del, NR_027430.1:n.2843del, NR_027432.1:n.2730del

Select item 14846843638.

rs1484684363 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 10:80046535 (GRCh38)
10:81806291 (GRCh37)
Canonical SPDI:: NC_000010.11:80046534:CC:C
Gene:: TMEM254-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
-=0.000026/7 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000010.11:g.80046536del, NC_000010.10:g.81806292del, NR_027431.3:n.3507del, NR_027431.2:n.3507del, NR_027428.1:n.3744del, NR_027429.1:n.3657del, NR_027430.1:n.3533del, NR_027432.1:n.3420del

Select item 14836619569.

rs1483661956 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAT>- [Show Flanks]
Chromosome:: 10:80046712 (GRCh38)
10:81806468 (GRCh37)
Canonical SPDI:: NC_000010.11:80046708:CATCAT:CAT
Gene:: TMEM254-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CATCAT=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000026/7 (TOPMED)
HGVS:: NC_000010.11:g.80046709CAT[1], NC_000010.10:g.81806465CAT[1], NR_027431.3:n.3328ATG[1], NR_027431.2:n.3328ATG[1], NR_027428.1:n.3565ATG[1], NR_027429.1:n.3478ATG[1], NR_027430.1:n.3354ATG[1], NR_027432.1:n.3241ATG[1]

Select item 148348549710.

rs1483485497 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:80047099 (GRCh38)
10:81806855 (GRCh37)
Canonical SPDI:: NC_000010.11:80047098:G:A
Gene:: TMEM254-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000010.11:g.80047099G>A, NC_000010.10:g.81806855G>A, NR_027431.3:n.2943C>T, NR_027431.2:n.2943C>T, NR_027428.1:n.3180C>T, NR_027429.1:n.3093C>T, NR_027430.1:n.2969C>T, NR_027432.1:n.2856C>T

Select item 148125045411.

rs1481250454 [Homo sapiens]

Variant type:: DEL
Alleles:: A>- [Show Flanks]
Chromosome:: 10:80047735 (GRCh38)
10:81807491 (GRCh37)
Canonical SPDI:: NC_000010.11:80047734:A:
Gene:: TMEM254-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000010.11:g.80047735del, NC_000010.10:g.81807491del, NR_027431.3:n.2307del, NR_027431.2:n.2307del, NR_027428.1:n.2544del, NR_027429.1:n.2457del, NR_027430.1:n.2333del, NR_027432.1:n.2220del

Select item 148121722312.

rs1481217223 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 10:80078873 (GRCh38)
10:81838629 (GRCh37)
Canonical SPDI:: NC_000010.11:80078872:GGGGG:GGGG
Gene:: TMEM254 (Varview), TMEM254-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.80078877del, NC_000010.10:g.81838633del, NR_027431.3:n.321del, NR_027431.2:n.321del, NR_027428.1:n.321del, NR_027429.1:n.321del, NR_027430.1:n.321del, NR_027432.1:n.321del

Select item 148053777313.

rs1480537773 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 10:80048949 (GRCh38)
10:81808705 (GRCh37)
Canonical SPDI:: NC_000010.11:80048948:A:C
Gene:: TMEM254-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
C=0.000035/1 (TOMMO)
C=0.000342/1 (KOREAN)
C=0.001092/2 (Korea1K)
HGVS:: NC_000010.11:g.80048949A>C, NC_000010.10:g.81808705A>C, NR_027431.3:n.1093T>G, NR_027431.2:n.1093T>G, NR_027428.1:n.1330T>G, NR_027429.1:n.1243T>G, NR_027430.1:n.1119T>G, NR_027432.1:n.1006T>G

Select item 148019215414.

rs1480192154 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 10:80047170 (GRCh38)
10:81806926 (GRCh37)
Canonical SPDI:: NC_000010.11:80047169:C:T
Gene:: TMEM254-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000010.11:g.80047170C>T, NC_000010.10:g.81806926C>T, NR_027431.3:n.2872G>A, NR_027431.2:n.2872G>A, NR_027428.1:n.3109G>A, NR_027429.1:n.3022G>A, NR_027430.1:n.2898G>A, NR_027432.1:n.2785G>A

Select item 147893734015.

rs1478937340 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 10:80046417 (GRCh38)
10:81806173 (GRCh37)
Canonical SPDI:: NC_000010.11:80046416:A:G
Gene:: TMEM254-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.80046417A>G, NC_000010.10:g.81806173A>G, NR_027431.3:n.3625T>C, NR_027431.2:n.3625T>C, NR_027428.1:n.3862T>C, NR_027429.1:n.3775T>C, NR_027430.1:n.3651T>C, NR_027432.1:n.3538T>C

Select item 147851445116.

rs1478514451 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:80047438 (GRCh38)
10:81807194 (GRCh37)
Canonical SPDI:: NC_000010.11:80047437:G:A
Gene:: TMEM254-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.80047438G>A, NC_000010.10:g.81807194G>A, NR_027431.3:n.2604C>T, NR_027431.2:n.2604C>T, NR_027428.1:n.2841C>T, NR_027429.1:n.2754C>T, NR_027430.1:n.2630C>T, NR_027432.1:n.2517C>T

Select item 147707221817.

rs1477072218 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:80048759 (GRCh38)
10:81808515 (GRCh37)
Canonical SPDI:: NC_000010.11:80048758:G:A
Gene:: TMEM254-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000010.11:g.80048759G>A, NC_000010.10:g.81808515G>A, NR_027431.3:n.1283C>T, NR_027431.2:n.1283C>T, NR_027428.1:n.1520C>T, NR_027429.1:n.1433C>T, NR_027430.1:n.1309C>T, NR_027432.1:n.1196C>T

Select item 147641269018.

rs1476412690 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 10:80047718 (GRCh38)
10:81807474 (GRCh37)
Canonical SPDI:: NC_000010.11:80047717:T:A
Gene:: TMEM254-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0.000084/1 (ALFA)
A=0.000008/1 (GnomAD)
HGVS:: NC_000010.11:g.80047718T>A, NC_000010.10:g.81807474T>A, NR_027431.3:n.2324A>T, NR_027431.2:n.2324A>T, NR_027428.1:n.2561A>T, NR_027429.1:n.2474A>T, NR_027430.1:n.2350A>T, NR_027432.1:n.2237A>T

Select item 147559438519.

rs1475594385 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 10:80056090 (GRCh38)
10:81815846 (GRCh37)
Canonical SPDI:: NC_000010.11:80056089:G:A
Gene:: TMEM254-AS1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
HGVS:: NC_000010.11:g.80056090G>A, NC_000010.10:g.81815846G>A, NR_027428.1:n.735C>T, NR_027429.1:n.648C>T

Select item 147402197320.

rs1474021973 [Homo sapiens]

Variant type:: DELINS
Alleles:: AATA>- [Show Flanks]
Chromosome:: 10:80046924 (GRCh38)
10:81806680 (GRCh37)
Canonical SPDI:: NC_000010.11:80046921:TAAATA:TA
Gene:: TMEM254-AS1 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TA=0./0 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000029/4 (GnomAD)
HGVS:: NC_000010.11:g.80046924_80046927del, NC_000010.10:g.81806680_81806683del, NR_027431.3:n.3117_3120del, NR_027431.2:n.3117_3120del, NR_027428.1:n.3354_3357del, NR_027429.1:n.3267_3270del, NR_027430.1:n.3143_3146del, NR_027432.1:n.3030_3033del

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