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Select item 14915883471.

rs1491588347 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 14:73662826 (GRCh38)
14:74129529 (GRCh37)
Canonical SPDI:: NC_000014.9:73662825:TG:
Gene:: DNAL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00034/4 (ALFA)
HGVS:: NC_000014.9:g.73662826_73662827del, NC_000014.8:g.74129529_74129530del, NG_028083.2:g.22952_22953del

Select item 14915879022.

rs1491587902 has merged into rs34120437 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 14:73699321 (GRCh38)
14:74166024 (GRCh37)
Canonical SPDI:: NC_000014.9:73699308:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:73699308:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:73699308:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:73699308:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:73699308:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT
Gene:: DNAL1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.15/6 (GENOME_DK)
HGVS:: NC_000014.9:g.73699321_73699323del, NC_000014.9:g.73699322_73699323del, NC_000014.9:g.73699323del, NC_000014.9:g.73699323dup, NC_000014.9:g.73699322_73699323dup, NC_000014.8:g.74166024_74166026del, NC_000014.8:g.74166025_74166026del, NC_000014.8:g.74166026del, NC_000014.8:g.74166026dup, NC_000014.8:g.74166025_74166026dup, NG_028083.2:g.59447_59449del, NG_028083.2:g.59448_59449del, NG_028083.2:g.59449del, NG_028083.2:g.59449dup, NG_028083.2:g.59448_59449dup, NM_031427.4:c.*3379_*3381del, NM_031427.4:c.*3380_*3381del, NM_031427.4:c.*3381del, NM_031427.4:c.*3381dup, NM_031427.4:c.*3380_*3381dup, NM_031427.3:c.*3379_*3381del, NM_031427.3:c.*3380_*3381del, NM_031427.3:c.*3381del, NM_031427.3:c.*3381dup, NM_031427.3:c.*3380_*3381dup, NM_001201366.2:c.*3379_*3381del, NM_001201366.2:c.*3380_*3381del, NM_001201366.2:c.*3381del, NM_001201366.2:c.*3381dup, NM_001201366.2:c.*3380_*3381dup, NM_001201366.1:c.*3379_*3381del, NM_001201366.1:c.*3380_*3381del, NM_001201366.1:c.*3381del, NM_001201366.1:c.*3381dup, NM_001201366.1:c.*3380_*3381dup, XM_017021679.3:c.*3379_*3381del, XM_017021679.3:c.*3380_*3381del, XM_017021679.3:c.*3381del, XM_017021679.3:c.*3381dup, XM_017021679.3:c.*3380_*3381dup, XM_017021679.2:c.*3379_*3381del, XM_017021679.2:c.*3380_*3381del, XM_017021679.2:c.*3381del, XM_017021679.2:c.*3381dup, XM_017021679.2:c.*3380_*3381dup, XM_024449715.2:c.*3379_*3381del, XM_024449715.2:c.*3380_*3381del, XM_024449715.2:c.*3381del, XM_024449715.2:c.*3381dup, XM_024449715.2:c.*3380_*3381dup, XM_024449715.1:c.*3379_*3381del, XM_024449715.1:c.*3380_*3381del, XM_024449715.1:c.*3381del, XM_024449715.1:c.*3381dup, XM_024449715.1:c.*3380_*3381dup

Select item 14915731283.

rs1491573128 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 14:73690037 (GRCh38)
14:74156740 (GRCh37)
Canonical SPDI:: NC_000014.9:73690036:CA:
Gene:: DNAL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00042/5 (ALFA)
HGVS:: NC_000014.9:g.73690037_73690038del, NC_000014.8:g.74156740_74156741del, NG_028083.2:g.50163_50164del

Select item 14915316234.

rs1491531623 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 14:73682337 (GRCh38)
14:74149040 (GRCh37)
Canonical SPDI:: NC_000014.9:73682336:AT:
Gene:: DNAL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000084/1 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.73682337_73682338del, NC_000014.8:g.74149040_74149041del, NG_028083.2:g.42463_42464del

Select item 14914776325.

rs1491477632 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 14:73669287 (GRCh38)
14:74135990 (GRCh37)
Canonical SPDI:: NC_000014.9:73669286:CT:
Gene:: DNAL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.73669287_73669288del, NC_000014.8:g.74135990_74135991del, NG_028083.2:g.29413_29414del

Select item 14914191686.

rs1491419168 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GT [Show Flanks]
Chromosome:: 14:73689027 (GRCh38)
14:74155731 (GRCh37)
Canonical SPDI:: NC_000014.9:73689027:T:TGT
Gene:: DNAL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TGT=0./0 (ALFA)
HGVS:: NC_000014.9:g.73689028_73689029insGT, NC_000014.8:g.74155731_74155732insGT, NG_028083.2:g.49154_49155insGT

Select item 14914066207.

rs1491406620 has merged into rs35746041 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 14:73672617 (GRCh38)
14:74139320 (GRCh37)
Canonical SPDI:: NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:73672607:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA
Gene:: DNAL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
A=0.3528/1767 (1000Genomes)
A=0.4742/184 (NorthernSweden)
HGVS:: NC_000014.9:g.73672617_73672626del, NC_000014.9:g.73672619_73672626del, NC_000014.9:g.73672621_73672626del, NC_000014.9:g.73672622_73672626del, NC_000014.9:g.73672623_73672626del, NC_000014.9:g.73672624_73672626del, NC_000014.9:g.73672625_73672626del, NC_000014.9:g.73672626del, NC_000014.9:g.73672626dup, NC_000014.9:g.73672625_73672626dup, NC_000014.9:g.73672624_73672626dup, NC_000014.9:g.73672623_73672626dup, NC_000014.8:g.74139320_74139329del, NC_000014.8:g.74139322_74139329del, NC_000014.8:g.74139324_74139329del, NC_000014.8:g.74139325_74139329del, NC_000014.8:g.74139326_74139329del, NC_000014.8:g.74139327_74139329del, NC_000014.8:g.74139328_74139329del, NC_000014.8:g.74139329del, NC_000014.8:g.74139329dup, NC_000014.8:g.74139328_74139329dup, NC_000014.8:g.74139327_74139329dup, NC_000014.8:g.74139326_74139329dup, NG_028083.2:g.32743_32752del, NG_028083.2:g.32745_32752del, NG_028083.2:g.32747_32752del, NG_028083.2:g.32748_32752del, NG_028083.2:g.32749_32752del, NG_028083.2:g.32750_32752del, NG_028083.2:g.32751_32752del, NG_028083.2:g.32752del, NG_028083.2:g.32752dup, NG_028083.2:g.32751_32752dup, NG_028083.2:g.32750_32752dup, NG_028083.2:g.32749_32752dup

Select item 14913017788.

rs1491301778 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 14:73672607 (GRCh38)
14:74139310 (GRCh37)
Canonical SPDI:: NC_000014.9:73672606:CA:
Gene:: DNAL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.0011/13 (ALFA)
HGVS:: NC_000014.9:g.73672607_73672608del, NC_000014.8:g.74139310_74139311del, NG_028083.2:g.32733_32734del

Select item 14912714959.

rs1491271495 has merged into rs10679978 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 14:73702090 (GRCh38)
14:74168793 (GRCh37)
Canonical SPDI:: NC_000014.9:73702078:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTG,NC_000014.9:73702078:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTG,NC_000014.9:73702078:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTG,NC_000014.9:73702078:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG,NC_000014.9:73702078:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG,NC_000014.9:73702078:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000014.9:73702078:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000014.9:73702078:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG,NC_000014.9:73702078:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000014.9:73702078:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000014.9:73702078:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000014.9:73702078:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000014.9:73702078:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000014.9:73702078:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000014.9:73702078:GTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: DNAL1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTG=0./0 (ALFA)
HGVS:: NC_000014.9:g.73702080TG[5], NC_000014.9:g.73702080TG[6], NC_000014.9:g.73702080TG[7], NC_000014.9:g.73702080TG[8], NC_000014.9:g.73702080TG[9], NC_000014.9:g.73702080TG[10], NC_000014.9:g.73702080TG[11], NC_000014.9:g.73702080TG[12], NC_000014.9:g.73702080TG[14], NC_000014.9:g.73702080TG[15], NC_000014.9:g.73702080TG[16], NC_000014.9:g.73702080TG[17], NC_000014.9:g.73702080TG[18], NC_000014.9:g.73702080TG[19], NC_000014.9:g.73702080TG[21], NC_000014.8:g.74168783TG[5], NC_000014.8:g.74168783TG[6], NC_000014.8:g.74168783TG[7], NC_000014.8:g.74168783TG[8], NC_000014.8:g.74168783TG[9], NC_000014.8:g.74168783TG[10], NC_000014.8:g.74168783TG[11], NC_000014.8:g.74168783TG[12], NC_000014.8:g.74168783TG[14], NC_000014.8:g.74168783TG[15], NC_000014.8:g.74168783TG[16], NC_000014.8:g.74168783TG[17], NC_000014.8:g.74168783TG[18], NC_000014.8:g.74168783TG[19], NC_000014.8:g.74168783TG[21], NG_028083.2:g.62206TG[5], NG_028083.2:g.62206TG[6], NG_028083.2:g.62206TG[7], NG_028083.2:g.62206TG[8], NG_028083.2:g.62206TG[9], NG_028083.2:g.62206TG[10], NG_028083.2:g.62206TG[11], NG_028083.2:g.62206TG[12], NG_028083.2:g.62206TG[14], NG_028083.2:g.62206TG[15], NG_028083.2:g.62206TG[16], NG_028083.2:g.62206TG[17], NG_028083.2:g.62206TG[18], NG_028083.2:g.62206TG[19], NG_028083.2:g.62206TG[21], NM_031427.4:c.*6138TG[5], NM_031427.4:c.*6138TG[6], NM_031427.4:c.*6138TG[7], NM_031427.4:c.*6138TG[8], NM_031427.4:c.*6138TG[9], NM_031427.4:c.*6138TG[10], NM_031427.4:c.*6138TG[11], NM_031427.4:c.*6138TG[12], NM_031427.4:c.*6138TG[14], NM_031427.4:c.*6138TG[15], NM_031427.4:c.*6138TG[16], NM_031427.4:c.*6138TG[17], NM_031427.4:c.*6138TG[18], NM_031427.4:c.*6138TG[19], NM_031427.4:c.*6138TG[21], NM_031427.3:c.*6138TG[5], NM_031427.3:c.*6138TG[6], NM_031427.3:c.*6138TG[7], NM_031427.3:c.*6138TG[8], NM_031427.3:c.*6138TG[9], NM_031427.3:c.*6138TG[10], NM_031427.3:c.*6138TG[11], NM_031427.3:c.*6138TG[12], NM_031427.3:c.*6138TG[14], NM_031427.3:c.*6138TG[15], NM_031427.3:c.*6138TG[16], NM_031427.3:c.*6138TG[17], NM_031427.3:c.*6138TG[18], NM_031427.3:c.*6138TG[19], NM_031427.3:c.*6138TG[21], NM_001201366.2:c.*6138TG[5], NM_001201366.2:c.*6138TG[6], NM_001201366.2:c.*6138TG[7], NM_001201366.2:c.*6138TG[8], NM_001201366.2:c.*6138TG[9], NM_001201366.2:c.*6138TG[10], NM_001201366.2:c.*6138TG[11], NM_001201366.2:c.*6138TG[12], NM_001201366.2:c.*6138TG[14], NM_001201366.2:c.*6138TG[15], NM_001201366.2:c.*6138TG[16], NM_001201366.2:c.*6138TG[17], NM_001201366.2:c.*6138TG[18], NM_001201366.2:c.*6138TG[19], NM_001201366.2:c.*6138TG[21], NM_001201366.1:c.*6138TG[5], NM_001201366.1:c.*6138TG[6], NM_001201366.1:c.*6138TG[7], NM_001201366.1:c.*6138TG[8], NM_001201366.1:c.*6138TG[9], NM_001201366.1:c.*6138TG[10], NM_001201366.1:c.*6138TG[11], NM_001201366.1:c.*6138TG[12], NM_001201366.1:c.*6138TG[14], NM_001201366.1:c.*6138TG[15], NM_001201366.1:c.*6138TG[16], NM_001201366.1:c.*6138TG[17], NM_001201366.1:c.*6138TG[18], NM_001201366.1:c.*6138TG[19], NM_001201366.1:c.*6138TG[21], XM_017021679.3:c.*6138TG[5], XM_017021679.3:c.*6138TG[6], XM_017021679.3:c.*6138TG[7], XM_017021679.3:c.*6138TG[8], XM_017021679.3:c.*6138TG[9], XM_017021679.3:c.*6138TG[10], XM_017021679.3:c.*6138TG[11], XM_017021679.3:c.*6138TG[12], XM_017021679.3:c.*6138TG[14], XM_017021679.3:c.*6138TG[15], XM_017021679.3:c.*6138TG[16], XM_017021679.3:c.*6138TG[17], XM_017021679.3:c.*6138TG[18], XM_017021679.3:c.*6138TG[19], XM_017021679.3:c.*6138TG[21], XM_024449715.2:c.*6138TG[5], XM_024449715.2:c.*6138TG[6], XM_024449715.2:c.*6138TG[7], XM_024449715.2:c.*6138TG[8], XM_024449715.2:c.*6138TG[9], XM_024449715.2:c.*6138TG[10], XM_024449715.2:c.*6138TG[11], XM_024449715.2:c.*6138TG[12], XM_024449715.2:c.*6138TG[14], XM_024449715.2:c.*6138TG[15], XM_024449715.2:c.*6138TG[16], XM_024449715.2:c.*6138TG[17], XM_024449715.2:c.*6138TG[18], XM_024449715.2:c.*6138TG[19], XM_024449715.2:c.*6138TG[21]

Select item 149123535010.

rs1491235350 has merged into rs57403758 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 14:73682349 (GRCh38)
14:74149052 (GRCh37)
Canonical SPDI:: NC_000014.9:73682337:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:73682337:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:73682337:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:73682337:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:73682337:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:73682337:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:73682337:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:73682337:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:73682337:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73682337:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73682337:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73682337:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73682337:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73682337:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73682337:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73682337:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73682337:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73682337:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73682337:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73682337:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73682337:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73682337:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73682337:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73682337:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73682337:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73682337:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73682337:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73682337:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73682337:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73682337:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73682337:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73682337:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73682337:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73682337:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DNAL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.2778/10 (GENOME_DK)
HGVS:: NC_000014.9:g.73682349_73682360del, NC_000014.9:g.73682351_73682360del, NC_000014.9:g.73682352_73682360del, NC_000014.9:g.73682353_73682360del, NC_000014.9:g.73682354_73682360del, NC_000014.9:g.73682355_73682360del, NC_000014.9:g.73682357_73682360del, NC_000014.9:g.73682358_73682360del, NC_000014.9:g.73682359_73682360del, NC_000014.9:g.73682360del, NC_000014.9:g.73682360dup, NC_000014.9:g.73682359_73682360dup, NC_000014.9:g.73682358_73682360dup, NC_000014.9:g.73682357_73682360dup, NC_000014.9:g.73682356_73682360dup, NC_000014.9:g.73682355_73682360dup, NC_000014.9:g.73682354_73682360dup, NC_000014.9:g.73682353_73682360dup, NC_000014.9:g.73682352_73682360dup, NC_000014.9:g.73682351_73682360dup, NC_000014.9:g.73682350_73682360dup, NC_000014.9:g.73682349_73682360dup, NC_000014.9:g.73682348_73682360dup, NC_000014.9:g.73682347_73682360dup, NC_000014.9:g.73682346_73682360dup, NC_000014.9:g.73682344_73682360dup, NC_000014.9:g.73682343_73682360dup, NC_000014.9:g.73682342_73682360dup, NC_000014.9:g.73682341_73682360dup, NC_000014.9:g.73682360_73682361insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.73682360_73682361insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.73682360_73682361insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.73682360_73682361insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.73682360_73682361insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.74149052_74149063del, NC_000014.8:g.74149054_74149063del, NC_000014.8:g.74149055_74149063del, NC_000014.8:g.74149056_74149063del, NC_000014.8:g.74149057_74149063del, NC_000014.8:g.74149058_74149063del, NC_000014.8:g.74149060_74149063del, NC_000014.8:g.74149061_74149063del, NC_000014.8:g.74149062_74149063del, NC_000014.8:g.74149063del, NC_000014.8:g.74149063dup, NC_000014.8:g.74149062_74149063dup, NC_000014.8:g.74149061_74149063dup, NC_000014.8:g.74149060_74149063dup, NC_000014.8:g.74149059_74149063dup, NC_000014.8:g.74149058_74149063dup, NC_000014.8:g.74149057_74149063dup, NC_000014.8:g.74149056_74149063dup, NC_000014.8:g.74149055_74149063dup, NC_000014.8:g.74149054_74149063dup, NC_000014.8:g.74149053_74149063dup, NC_000014.8:g.74149052_74149063dup, NC_000014.8:g.74149051_74149063dup, NC_000014.8:g.74149050_74149063dup, NC_000014.8:g.74149049_74149063dup, NC_000014.8:g.74149047_74149063dup, NC_000014.8:g.74149046_74149063dup, NC_000014.8:g.74149045_74149063dup, NC_000014.8:g.74149044_74149063dup, NC_000014.8:g.74149063_74149064insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.74149063_74149064insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.74149063_74149064insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.74149063_74149064insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.74149063_74149064insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_028083.2:g.42475_42486del, NG_028083.2:g.42477_42486del, NG_028083.2:g.42478_42486del, NG_028083.2:g.42479_42486del, NG_028083.2:g.42480_42486del, NG_028083.2:g.42481_42486del, NG_028083.2:g.42483_42486del, NG_028083.2:g.42484_42486del, NG_028083.2:g.42485_42486del, NG_028083.2:g.42486del, NG_028083.2:g.42486dup, NG_028083.2:g.42485_42486dup, NG_028083.2:g.42484_42486dup, NG_028083.2:g.42483_42486dup, NG_028083.2:g.42482_42486dup, NG_028083.2:g.42481_42486dup, NG_028083.2:g.42480_42486dup, NG_028083.2:g.42479_42486dup, NG_028083.2:g.42478_42486dup, NG_028083.2:g.42477_42486dup, NG_028083.2:g.42476_42486dup, NG_028083.2:g.42475_42486dup, NG_028083.2:g.42474_42486dup, NG_028083.2:g.42473_42486dup, NG_028083.2:g.42472_42486dup, NG_028083.2:g.42470_42486dup, NG_028083.2:g.42469_42486dup, NG_028083.2:g.42468_42486dup, NG_028083.2:g.42467_42486dup, NG_028083.2:g.42486_42487insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_028083.2:g.42486_42487insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_028083.2:g.42486_42487insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_028083.2:g.42486_42487insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_028083.2:g.42486_42487insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149122197611.

rs1491221976 has merged into rs71112794 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,T,TT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 14:73689039 (GRCh38)
14:74155742 (GRCh37)
Canonical SPDI:: NC_000014.9:73689026:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:73689026:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:73689026:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:73689026:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:73689026:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:73689026:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:73689026:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:73689026:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73689026:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73689026:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73689026:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73689026:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73689026:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73689026:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73689026:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73689026:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73689026:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73689026:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73689026:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73689026:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73689026:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73689026:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73689026:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73689026:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73689026:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DNAL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000014.9:g.73689039_73689051del, NC_000014.9:g.73689040_73689051del, NC_000014.9:g.73689041_73689051del, NC_000014.9:g.73689044_73689051del, NC_000014.9:g.73689045_73689051del, NC_000014.9:g.73689046_73689051del, NC_000014.9:g.73689047_73689051del, NC_000014.9:g.73689048_73689051del, NC_000014.9:g.73689049_73689051del, NC_000014.9:g.73689050_73689051del, NC_000014.9:g.73689051del, NC_000014.9:g.73689051dup, NC_000014.9:g.73689050_73689051dup, NC_000014.9:g.73689049_73689051dup, NC_000014.9:g.73689048_73689051dup, NC_000014.9:g.73689047_73689051dup, NC_000014.9:g.73689046_73689051dup, NC_000014.9:g.73689044_73689051dup, NC_000014.9:g.73689035_73689051dup, NC_000014.9:g.73689029_73689051dup, NC_000014.9:g.73689051_73689052insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.73689051_73689052insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.73689051_73689052insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.73689051_73689052insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.9:g.73689051_73689052insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.74155742_74155754del, NC_000014.8:g.74155743_74155754del, NC_000014.8:g.74155744_74155754del, NC_000014.8:g.74155747_74155754del, NC_000014.8:g.74155748_74155754del, NC_000014.8:g.74155749_74155754del, NC_000014.8:g.74155750_74155754del, NC_000014.8:g.74155751_74155754del, NC_000014.8:g.74155752_74155754del, NC_000014.8:g.74155753_74155754del, NC_000014.8:g.74155754del, NC_000014.8:g.74155754dup, NC_000014.8:g.74155753_74155754dup, NC_000014.8:g.74155752_74155754dup, NC_000014.8:g.74155751_74155754dup, NC_000014.8:g.74155750_74155754dup, NC_000014.8:g.74155749_74155754dup, NC_000014.8:g.74155747_74155754dup, NC_000014.8:g.74155738_74155754dup, NC_000014.8:g.74155732_74155754dup, NC_000014.8:g.74155754_74155755insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.74155754_74155755insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.74155754_74155755insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.74155754_74155755insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000014.8:g.74155754_74155755insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_028083.2:g.49165_49177del, NG_028083.2:g.49166_49177del, NG_028083.2:g.49167_49177del, NG_028083.2:g.49170_49177del, NG_028083.2:g.49171_49177del, NG_028083.2:g.49172_49177del, NG_028083.2:g.49173_49177del, NG_028083.2:g.49174_49177del, NG_028083.2:g.49175_49177del, NG_028083.2:g.49176_49177del, NG_028083.2:g.49177del, NG_028083.2:g.49177dup, NG_028083.2:g.49176_49177dup, NG_028083.2:g.49175_49177dup, NG_028083.2:g.49174_49177dup, NG_028083.2:g.49173_49177dup, NG_028083.2:g.49172_49177dup, NG_028083.2:g.49170_49177dup, NG_028083.2:g.49161_49177dup, NG_028083.2:g.49155_49177dup, NG_028083.2:g.49177_49178insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_028083.2:g.49177_49178insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_028083.2:g.49177_49178insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_028083.2:g.49177_49178insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_028083.2:g.49177_49178insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149114219112.

rs1491142191 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 14:73690051 (GRCh38)
14:74156755 (GRCh37)
Canonical SPDI:: NC_000014.9:73690051:G:GG
Gene:: DNAL1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000014.9:g.73690052dup, NC_000014.8:g.74156755dup, NG_028083.2:g.50178dup

Select item 149111619313.

rs1491116193 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 14:73662826 (GRCh38)
14:74129530 (GRCh37)
Canonical SPDI:: NC_000014.9:73662826:G:GG
Gene:: DNAL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GG=0./0 (ALFA)
G=0.000753/92 (GnomAD)
G=0.001027/17 (TOMMO)
G=0.002735/5 (Korea1K)
HGVS:: NC_000014.9:g.73662827dup, NC_000014.8:g.74129530dup, NG_028083.2:g.22953dup

Select item 149110234314.

rs1491102343 [Homo sapiens]

Variant type:: DEL
Alleles:: GG>- [Show Flanks]
Chromosome:: 14:73702078 (GRCh38)
14:74168781 (GRCh37)
Canonical SPDI:: NC_000014.9:73702077:GG:
Gene:: DNAL1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: -=0.0093/36 (ALSPAC)
-=0.027/100 (TWINSUK)
HGVS:: NC_000014.9:g.73702078_73702079del, NC_000014.8:g.74168781_74168782del, NG_028083.2:g.62204_62205del, NM_031427.4:c.*6136_*6137del, NM_031427.3:c.*6136_*6137del, NM_001201366.2:c.*6136_*6137del, NM_001201366.1:c.*6136_*6137del, XM_017021679.3:c.*6136_*6137del, XM_024449715.2:c.*6136_*6137del

Select item 149107793615.

rs1491077936 has merged into rs200537222 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 14:73685471 (GRCh38)
14:74152174 (GRCh37)
Canonical SPDI:: NC_000014.9:73685460:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:73685460:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:73685460:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:73685460:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:73685460:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:73685460:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:73685460:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:73685460:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:73685460:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:73685460:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:73685460:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DNAL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
-=0.000008/2 (TOPMED)
T=0.260583/1305 (1000Genomes)
HGVS:: NC_000014.9:g.73685471_73685477del, NC_000014.9:g.73685473_73685477del, NC_000014.9:g.73685474_73685477del, NC_000014.9:g.73685475_73685477del, NC_000014.9:g.73685476_73685477del, NC_000014.9:g.73685477del, NC_000014.9:g.73685477dup, NC_000014.9:g.73685476_73685477dup, NC_000014.9:g.73685475_73685477dup, NC_000014.9:g.73685474_73685477dup, NC_000014.9:g.73685470_73685477dup, NC_000014.8:g.74152174_74152180del, NC_000014.8:g.74152176_74152180del, NC_000014.8:g.74152177_74152180del, NC_000014.8:g.74152178_74152180del, NC_000014.8:g.74152179_74152180del, NC_000014.8:g.74152180del, NC_000014.8:g.74152180dup, NC_000014.8:g.74152179_74152180dup, NC_000014.8:g.74152178_74152180dup, NC_000014.8:g.74152177_74152180dup, NC_000014.8:g.74152173_74152180dup, NG_028083.2:g.45597_45603del, NG_028083.2:g.45599_45603del, NG_028083.2:g.45600_45603del, NG_028083.2:g.45601_45603del, NG_028083.2:g.45602_45603del, NG_028083.2:g.45603del, NG_028083.2:g.45603dup, NG_028083.2:g.45602_45603dup, NG_028083.2:g.45601_45603dup, NG_028083.2:g.45600_45603dup, NG_028083.2:g.45596_45603dup

Select item 149103854416.

rs1491038544 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 14:73681137 (GRCh38)
14:74147841 (GRCh37)
Canonical SPDI:: NC_000014.9:73681137:C:CC
Gene:: DNAL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CC=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000142/2 (TOMMO)
HGVS:: NC_000014.9:g.73681138dup, NC_000014.8:g.74147841dup, NG_028083.2:g.41264dup

Select item 149101244517.

rs1491012445 has merged into rs142899983 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 14:73679888 (GRCh38)
14:74146591 (GRCh37)
Canonical SPDI:: NC_000014.9:73679879:TTTTTTTTTTTT:TTTTTTTT,NC_000014.9:73679879:TTTTTTTTTTTT:TTTTTTTTT,NC_000014.9:73679879:TTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:73679879:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:73679879:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:73679879:TTTTTTTTTTTT:TTTTTTTTTTTTTT
Gene:: DNAL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
T=0.03302/46 (1000Genomes)
-=0.06833/41 (NorthernSweden)
-=0.1/4 (GENOME_DK)
HGVS:: NC_000014.9:g.73679888_73679891del, NC_000014.9:g.73679889_73679891del, NC_000014.9:g.73679890_73679891del, NC_000014.9:g.73679891del, NC_000014.9:g.73679891dup, NC_000014.9:g.73679890_73679891dup, NC_000014.8:g.74146591_74146594del, NC_000014.8:g.74146592_74146594del, NC_000014.8:g.74146593_74146594del, NC_000014.8:g.74146594del, NC_000014.8:g.74146594dup, NC_000014.8:g.74146593_74146594dup, NG_028083.2:g.40014_40017del, NG_028083.2:g.40015_40017del, NG_028083.2:g.40016_40017del, NG_028083.2:g.40017del, NG_028083.2:g.40017dup, NG_028083.2:g.40016_40017dup

Select item 149094742618.

rs1490947426 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 14:73681538 (GRCh38)
14:74148241 (GRCh37)
Canonical SPDI:: NC_000014.9:73681537:C:T
Gene:: DNAL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000039/5 (GnomAD)
HGVS:: NC_000014.9:g.73681538C>T, NC_000014.8:g.74148241C>T, NG_028083.2:g.41664C>T

Select item 149094727119.

rs1490947271 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:73659754 (GRCh38)
14:74126457 (GRCh37)
Canonical SPDI:: NC_000014.9:73659753:A:G
Gene:: DNAL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.73659754A>G, NC_000014.8:g.74126457A>G, NG_028083.2:g.19880A>G, NG_043380.1:g.7T>C

Select item 149085762820.

rs1490857628 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 14:73643880 (GRCh38)
14:74110583 (GRCh37)
Canonical SPDI:: NC_000014.9:73643879:A:G
Gene:: DNAL1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.73643880A>G, NC_000014.8:g.74110583A>G, NG_028083.2:g.4006A>G

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