Links from Gene
Items: 1 to 20 of 3894
1.
rs1491451016 has merged into rs66633580 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 19:57141411
(GRCh38)
19:57652779
(GRCh37)
- Canonical SPDI:
- NC_000019.10:57141398:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:57141398:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:57141398:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:57141398:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:57141398:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:57141398:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:57141398:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:57141398:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:57141398:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:57141398:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57141398:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57141398:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57141398:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57141398:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57141398:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57141398:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57141398:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57141398:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57141398:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57141398:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57141398:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57141398:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:57141398:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- ZIM3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
AAAAAA=0.4103/2055
(1000Genomes)
- HGVS:
NC_000019.10:g.57141411_57141421del, NC_000019.10:g.57141412_57141421del, NC_000019.10:g.57141413_57141421del, NC_000019.10:g.57141414_57141421del, NC_000019.10:g.57141415_57141421del, NC_000019.10:g.57141416_57141421del, NC_000019.10:g.57141417_57141421del, NC_000019.10:g.57141418_57141421del, NC_000019.10:g.57141419_57141421del, NC_000019.10:g.57141420_57141421del, NC_000019.10:g.57141421del, NC_000019.10:g.57141421dup, NC_000019.10:g.57141420_57141421dup, NC_000019.10:g.57141419_57141421dup, NC_000019.10:g.57141418_57141421dup, NC_000019.10:g.57141417_57141421dup, NC_000019.10:g.57141416_57141421dup, NC_000019.10:g.57141415_57141421dup, NC_000019.10:g.57141414_57141421dup, NC_000019.10:g.57141413_57141421dup, NC_000019.10:g.57141412_57141421dup, NC_000019.10:g.57141421_57141422insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.57141421_57141422insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.57652779_57652789del, NC_000019.9:g.57652780_57652789del, NC_000019.9:g.57652781_57652789del, NC_000019.9:g.57652782_57652789del, NC_000019.9:g.57652783_57652789del, NC_000019.9:g.57652784_57652789del, NC_000019.9:g.57652785_57652789del, NC_000019.9:g.57652786_57652789del, NC_000019.9:g.57652787_57652789del, NC_000019.9:g.57652788_57652789del, NC_000019.9:g.57652789del, NC_000019.9:g.57652789dup, NC_000019.9:g.57652788_57652789dup, NC_000019.9:g.57652787_57652789dup, NC_000019.9:g.57652786_57652789dup, NC_000019.9:g.57652785_57652789dup, NC_000019.9:g.57652784_57652789dup, NC_000019.9:g.57652783_57652789dup, NC_000019.9:g.57652782_57652789dup, NC_000019.9:g.57652781_57652789dup, NC_000019.9:g.57652780_57652789dup, NC_000019.9:g.57652789_57652790insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.57652789_57652790insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
2.
rs1491404484 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATATATA,ATATATATATATATATATATA,ATATATATATATATATATATATATATA,ATATATTA,ATC
[Show Flanks]
- Chromosome:
- 19:57146493
(GRCh38)
19:57657862
(GRCh37)
- Canonical SPDI:
- NC_000019.10:57146493::A,NC_000019.10:57146493::ATA,NC_000019.10:57146493::ATATA,NC_000019.10:57146493::ATATATA,NC_000019.10:57146493::ATATATATA,NC_000019.10:57146493::ATATATATATA,NC_000019.10:57146493::ATATATATATATA,NC_000019.10:57146493::ATATATATATATATATATA,NC_000019.10:57146493::ATATATATATATATATATATA,NC_000019.10:57146493::ATATATATATATATATATATATATATA,NC_000019.10:57146493::ATATATTA,NC_000019.10:57146493::ATC
- Gene:
- ZIM3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATA=0./0
(
ALFA)
A=0.00935/14
(Korea1K)
- HGVS:
NC_000019.10:g.57146493_57146494insA, NC_000019.10:g.57146493_57146494insATA, NC_000019.10:g.57146493_57146494insATATA, NC_000019.10:g.57146493_57146494insATATATA, NC_000019.10:g.57146493_57146494insATATATATA, NC_000019.10:g.57146493_57146494insATATATATATA, NC_000019.10:g.57146493_57146494insATATATATATATA, NC_000019.10:g.57146493_57146494insATATATATATATATATATA, NC_000019.10:g.57146493_57146494insATATATATATATATATATATA, NC_000019.10:g.57146493_57146494insATATATATATATATATATATATATATA, NC_000019.10:g.57146493_57146494insATATATTA, NC_000019.10:g.57146493_57146494insATC, NC_000019.9:g.57657861_57657862insA, NC_000019.9:g.57657861_57657862insATA, NC_000019.9:g.57657861_57657862insATATA, NC_000019.9:g.57657861_57657862insATATATA, NC_000019.9:g.57657861_57657862insATATATATA, NC_000019.9:g.57657861_57657862insATATATATATA, NC_000019.9:g.57657861_57657862insATATATATATATA, NC_000019.9:g.57657861_57657862insATATATATATATATATATA, NC_000019.9:g.57657861_57657862insATATATATATATATATATATA, NC_000019.9:g.57657861_57657862insATATATATATATATATATATATATATA, NC_000019.9:g.57657861_57657862insATATATTA, NC_000019.9:g.57657861_57657862insATC
3.
rs1491303972 has merged into rs35172118 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:57142158
(GRCh38)
19:57653526
(GRCh37)
- Canonical SPDI:
- NC_000019.10:57142142:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:57142142:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:57142142:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:57142142:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:57142142:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:57142142:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57142142:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57142142:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57142142:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57142142:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57142142:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ZIM3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.4571/2289
(1000Genomes)
- HGVS:
NC_000019.10:g.57142158_57142161del, NC_000019.10:g.57142159_57142161del, NC_000019.10:g.57142160_57142161del, NC_000019.10:g.57142161del, NC_000019.10:g.57142161dup, NC_000019.10:g.57142160_57142161dup, NC_000019.10:g.57142159_57142161dup, NC_000019.10:g.57142158_57142161dup, NC_000019.10:g.57142157_57142161dup, NC_000019.10:g.57142156_57142161dup, NC_000019.10:g.57142155_57142161dup, NC_000019.9:g.57653526_57653529del, NC_000019.9:g.57653527_57653529del, NC_000019.9:g.57653528_57653529del, NC_000019.9:g.57653529del, NC_000019.9:g.57653529dup, NC_000019.9:g.57653528_57653529dup, NC_000019.9:g.57653527_57653529dup, NC_000019.9:g.57653526_57653529dup, NC_000019.9:g.57653525_57653529dup, NC_000019.9:g.57653524_57653529dup, NC_000019.9:g.57653523_57653529dup
4.
rs1491240434 has merged into rs1227112694 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:57146499
(GRCh38)
19:57657867
(GRCh37)
- Canonical SPDI:
- NC_000019.10:57146492:TTTTTTTTTTTTTTTT:TTTTTT,NC_000019.10:57146492:TTTTTTTTTTTTTTTT:TTTTTTTT,NC_000019.10:57146492:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000019.10:57146492:TTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:57146492:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:57146492:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:57146492:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:57146492:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:57146492:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:57146492:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:57146492:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:57146492:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:57146492:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:57146492:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57146492:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57146492:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57146492:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57146492:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57146492:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57146492:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57146492:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57146492:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57146492:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57146492:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57146492:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57146492:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57146492:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57146492:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57146492:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57146492:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57146492:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57146492:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57146492:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57146492:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57146492:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57146492:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57146492:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57146492:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57146492:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ZIM3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000019.10:g.57146499_57146508del, NC_000019.10:g.57146501_57146508del, NC_000019.10:g.57146502_57146508del, NC_000019.10:g.57146503_57146508del, NC_000019.10:g.57146504_57146508del, NC_000019.10:g.57146505_57146508del, NC_000019.10:g.57146506_57146508del, NC_000019.10:g.57146507_57146508del, NC_000019.10:g.57146508del, NC_000019.10:g.57146508dup, NC_000019.10:g.57146507_57146508dup, NC_000019.10:g.57146506_57146508dup, NC_000019.10:g.57146505_57146508dup, NC_000019.10:g.57146504_57146508dup, NC_000019.10:g.57146503_57146508dup, NC_000019.10:g.57146502_57146508dup, NC_000019.10:g.57146501_57146508dup, NC_000019.10:g.57146500_57146508dup, NC_000019.10:g.57146499_57146508dup, NC_000019.10:g.57146498_57146508dup, NC_000019.10:g.57146497_57146508dup, NC_000019.10:g.57146496_57146508dup, NC_000019.10:g.57146495_57146508dup, NC_000019.10:g.57146494_57146508dup, NC_000019.10:g.57146493_57146508dup, NC_000019.10:g.57146508_57146509insTTTTTTTTTTTTTTTTT, NC_000019.10:g.57146508_57146509insTTTTTTTTTTTTTTTTTT, NC_000019.10:g.57146508_57146509insTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.57146508_57146509insTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.57146508_57146509insTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.57146508_57146509insTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.57146508_57146509insTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.57146508_57146509insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.57146508_57146509insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.57146508_57146509insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.57146508_57146509insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.57146508_57146509insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.57146508_57146509insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.57146508_57146509insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.57657867_57657876del, NC_000019.9:g.57657869_57657876del, NC_000019.9:g.57657870_57657876del, NC_000019.9:g.57657871_57657876del, NC_000019.9:g.57657872_57657876del, NC_000019.9:g.57657873_57657876del, NC_000019.9:g.57657874_57657876del, NC_000019.9:g.57657875_57657876del, NC_000019.9:g.57657876del, NC_000019.9:g.57657876dup, NC_000019.9:g.57657875_57657876dup, NC_000019.9:g.57657874_57657876dup, NC_000019.9:g.57657873_57657876dup, NC_000019.9:g.57657872_57657876dup, NC_000019.9:g.57657871_57657876dup, NC_000019.9:g.57657870_57657876dup, NC_000019.9:g.57657869_57657876dup, NC_000019.9:g.57657868_57657876dup, NC_000019.9:g.57657867_57657876dup, NC_000019.9:g.57657866_57657876dup, NC_000019.9:g.57657865_57657876dup, NC_000019.9:g.57657864_57657876dup, NC_000019.9:g.57657863_57657876dup, NC_000019.9:g.57657862_57657876dup, NC_000019.9:g.57657861_57657876dup, NC_000019.9:g.57657876_57657877insTTTTTTTTTTTTTTTTT, NC_000019.9:g.57657876_57657877insTTTTTTTTTTTTTTTTTT, NC_000019.9:g.57657876_57657877insTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.57657876_57657877insTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.57657876_57657877insTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.57657876_57657877insTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.57657876_57657877insTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.57657876_57657877insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.57657876_57657877insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.57657876_57657877insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.57657876_57657877insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.57657876_57657877insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.57657876_57657877insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.57657876_57657877insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
7.
rs1491139421 has merged into rs35172118 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTT>-,T,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:57142158
(GRCh38)
19:57653526
(GRCh37)
- Canonical SPDI:
- NC_000019.10:57142142:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:57142142:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:57142142:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:57142142:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:57142142:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:57142142:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57142142:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57142142:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57142142:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57142142:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:57142142:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- ZIM3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.4571/2289
(1000Genomes)
- HGVS:
NC_000019.10:g.57142158_57142161del, NC_000019.10:g.57142159_57142161del, NC_000019.10:g.57142160_57142161del, NC_000019.10:g.57142161del, NC_000019.10:g.57142161dup, NC_000019.10:g.57142160_57142161dup, NC_000019.10:g.57142159_57142161dup, NC_000019.10:g.57142158_57142161dup, NC_000019.10:g.57142157_57142161dup, NC_000019.10:g.57142156_57142161dup, NC_000019.10:g.57142155_57142161dup, NC_000019.9:g.57653526_57653529del, NC_000019.9:g.57653527_57653529del, NC_000019.9:g.57653528_57653529del, NC_000019.9:g.57653529del, NC_000019.9:g.57653529dup, NC_000019.9:g.57653528_57653529dup, NC_000019.9:g.57653527_57653529dup, NC_000019.9:g.57653526_57653529dup, NC_000019.9:g.57653525_57653529dup, NC_000019.9:g.57653524_57653529dup, NC_000019.9:g.57653523_57653529dup
8.
rs1490986273 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:57146989
(GRCh38)
19:57658357
(GRCh37)
- Canonical SPDI:
- NC_000019.10:57146988:A:G
- Gene:
- ZIM3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
G=0.000035/1
(TOMMO)
G=0.001027/3
(KOREAN)
- HGVS:
9.
rs1490892073 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GGAAGGGA>-
[Show Flanks]
- Chromosome:
- 19:57138098
(GRCh38)
19:57649466
(GRCh37)
- Canonical SPDI:
- NC_000019.10:57138088:AGGAAGGGAGGAAGGGA:AGGAAGGGA
- Gene:
- ZIM3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
AGGAAGGGA=0.00008/1
(
ALFA)
-=0.00008/3
(GnomAD)
- HGVS:
10.
rs1490840893 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 19:57138823
(GRCh38)
19:57650191
(GRCh37)
- Canonical SPDI:
- NC_000019.10:57138822:C:A
- Gene:
- ZIM3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
11.
rs1490579871 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:57143795
(GRCh38)
19:57655163
(GRCh37)
- Canonical SPDI:
- NC_000019.10:57143794:C:T
- Gene:
- ZIM3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
12.
rs1490297164 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 19:57136015
(GRCh38)
19:57647383
(GRCh37)
- Canonical SPDI:
- NC_000019.10:57136014:T:G
- Gene:
- ZIM3 (Varview), LOC124904804 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,missense_variant,upstream_transcript_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490112755 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 19:57145637
(GRCh38)
19:57657005
(GRCh37)
- Canonical SPDI:
- NC_000019.10:57145636:G:C
- Gene:
- ZIM3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000015/4
(TOPMED)
- HGVS:
14.
rs1489812682 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:57146097
(GRCh38)
19:57657465
(GRCh37)
- Canonical SPDI:
- NC_000019.10:57146096:C:T
- Gene:
- ZIM3 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000084/1
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
15.
rs1489413724 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:57136834
(GRCh38)
19:57648202
(GRCh37)
- Canonical SPDI:
- NC_000019.10:57136833:C:T
- Gene:
- ZIM3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.000111/1
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
- HGVS:
16.
rs1489156970 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 19:57142978
(GRCh38)
19:57654346
(GRCh37)
- Canonical SPDI:
- NC_000019.10:57142977:G:T
- Gene:
- ZIM3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
17.
rs1488733567 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:57136052
(GRCh38)
19:57647420
(GRCh37)
- Canonical SPDI:
- NC_000019.10:57136051:A:G
- Gene:
- ZIM3 (Varview), LOC124904804 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
18.
rs1488728698 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 19:57138802
(GRCh38)
19:57650170
(GRCh37)
- Canonical SPDI:
- NC_000019.10:57138801:C:G,NC_000019.10:57138801:C:T
- Gene:
- ZIM3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
19.
rs1488235231 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AGTCTTGCTCTGTCGCCCA
[Show Flanks]
- Chromosome:
- 19:57143697
(GRCh38)
19:57655066
(GRCh37)
- Canonical SPDI:
- NC_000019.10:57143697:CCAAGTCTTGCTCTGTCGCCCA:CCAAGTCTTGCTCTGTCGCCCAAGTCTTGCTCTGTCGCCCA
- Gene:
- ZIM3 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
CCAAGTCTTGCTCTGTCGCCCAAGTCTTGCTCTGTCGCCCA=0./0
(
ALFA)
CCAAGTCTTGCTCTGTCGC=0.000076/10
(GnomAD)
- HGVS: