Links from Gene
Items: 1 to 20 of 3383
2.
rs1491462889 has merged into rs71182713 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTTTTTTTT>-,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 19:50369567
(GRCh38)
19:50872824
(GRCh37)
- Canonical SPDI:
- NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:50369558:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- LOC105372437 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000019.10:g.50369567_50369586del, NC_000019.10:g.50369572_50369586del, NC_000019.10:g.50369573_50369586del, NC_000019.10:g.50369574_50369586del, NC_000019.10:g.50369575_50369586del, NC_000019.10:g.50369576_50369586del, NC_000019.10:g.50369577_50369586del, NC_000019.10:g.50369578_50369586del, NC_000019.10:g.50369579_50369586del, NC_000019.10:g.50369580_50369586del, NC_000019.10:g.50369581_50369586del, NC_000019.10:g.50369582_50369586del, NC_000019.10:g.50369583_50369586del, NC_000019.10:g.50369584_50369586del, NC_000019.10:g.50369585_50369586del, NC_000019.10:g.50369586del, NC_000019.10:g.50369586dup, NC_000019.10:g.50369585_50369586dup, NC_000019.10:g.50369584_50369586dup, NC_000019.10:g.50369583_50369586dup, NC_000019.10:g.50369582_50369586dup, NC_000019.10:g.50369581_50369586dup, NC_000019.10:g.50369580_50369586dup, NC_000019.10:g.50369579_50369586dup, NC_000019.10:g.50369578_50369586dup, NC_000019.10:g.50369577_50369586dup, NC_000019.10:g.50369576_50369586dup, NC_000019.10:g.50369575_50369586dup, NC_000019.10:g.50369574_50369586dup, NC_000019.10:g.50369573_50369586dup, NC_000019.10:g.50369572_50369586dup, NC_000019.10:g.50369571_50369586dup, NC_000019.10:g.50369570_50369586dup, NC_000019.10:g.50369569_50369586dup, NC_000019.10:g.50369568_50369586dup, NC_000019.10:g.50369567_50369586dup, NC_000019.10:g.50369566_50369586dup, NC_000019.10:g.50369565_50369586dup, NC_000019.10:g.50369564_50369586dup, NC_000019.10:g.50369563_50369586dup, NC_000019.10:g.50369562_50369586dup, NC_000019.10:g.50369561_50369586dup, NC_000019.10:g.50369560_50369586dup, NC_000019.10:g.50369559_50369586dup, NC_000019.10:g.50369586_50369587insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.50369586_50369587insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.50369586_50369587insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.50369586_50369587insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.50369586_50369587insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.50369586_50369587insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.50369586_50369587insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.50369586_50369587insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.50369586_50369587insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.10:g.50369586_50369587insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.50872824_50872843del, NC_000019.9:g.50872829_50872843del, NC_000019.9:g.50872830_50872843del, NC_000019.9:g.50872831_50872843del, NC_000019.9:g.50872832_50872843del, NC_000019.9:g.50872833_50872843del, NC_000019.9:g.50872834_50872843del, NC_000019.9:g.50872835_50872843del, NC_000019.9:g.50872836_50872843del, NC_000019.9:g.50872837_50872843del, NC_000019.9:g.50872838_50872843del, NC_000019.9:g.50872839_50872843del, NC_000019.9:g.50872840_50872843del, NC_000019.9:g.50872841_50872843del, NC_000019.9:g.50872842_50872843del, NC_000019.9:g.50872843del, NC_000019.9:g.50872843dup, NC_000019.9:g.50872842_50872843dup, NC_000019.9:g.50872841_50872843dup, NC_000019.9:g.50872840_50872843dup, NC_000019.9:g.50872839_50872843dup, NC_000019.9:g.50872838_50872843dup, NC_000019.9:g.50872837_50872843dup, NC_000019.9:g.50872836_50872843dup, NC_000019.9:g.50872835_50872843dup, NC_000019.9:g.50872834_50872843dup, NC_000019.9:g.50872833_50872843dup, NC_000019.9:g.50872832_50872843dup, NC_000019.9:g.50872831_50872843dup, NC_000019.9:g.50872830_50872843dup, NC_000019.9:g.50872829_50872843dup, NC_000019.9:g.50872828_50872843dup, NC_000019.9:g.50872827_50872843dup, NC_000019.9:g.50872826_50872843dup, NC_000019.9:g.50872825_50872843dup, NC_000019.9:g.50872824_50872843dup, NC_000019.9:g.50872823_50872843dup, NC_000019.9:g.50872822_50872843dup, NC_000019.9:g.50872821_50872843dup, NC_000019.9:g.50872820_50872843dup, NC_000019.9:g.50872819_50872843dup, NC_000019.9:g.50872818_50872843dup, NC_000019.9:g.50872817_50872843dup, NC_000019.9:g.50872816_50872843dup, NC_000019.9:g.50872843_50872844insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.50872843_50872844insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.50872843_50872844insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.50872843_50872844insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.50872843_50872844insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.50872843_50872844insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.50872843_50872844insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.50872843_50872844insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.50872843_50872844insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000019.9:g.50872843_50872844insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
4.
rs1491174590 has merged into rs56181758 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA
[Show Flanks]
- Chromosome:
- 19:50364327
(GRCh38)
19:50867584
(GRCh37)
- Canonical SPDI:
- NC_000019.10:50364314:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:50364314:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:50364314:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:50364314:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:50364314:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:50364314:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:50364314:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:50364314:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50364314:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
- Gene:
- NAPSA (Varview), LOC105372437 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAA=0./0
(
ALFA)
-=0.047/22
(NorthernSweden)
- HGVS:
NC_000019.10:g.50364327_50364333del, NC_000019.10:g.50364328_50364333del, NC_000019.10:g.50364330_50364333del, NC_000019.10:g.50364331_50364333del, NC_000019.10:g.50364332_50364333del, NC_000019.10:g.50364333del, NC_000019.10:g.50364333dup, NC_000019.10:g.50364332_50364333dup, NC_000019.10:g.50364331_50364333dup, NC_000019.9:g.50867584_50867590del, NC_000019.9:g.50867585_50867590del, NC_000019.9:g.50867587_50867590del, NC_000019.9:g.50867588_50867590del, NC_000019.9:g.50867589_50867590del, NC_000019.9:g.50867590del, NC_000019.9:g.50867590dup, NC_000019.9:g.50867589_50867590dup, NC_000019.9:g.50867588_50867590dup
7.
rs1490646468 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:50359646
(GRCh38)
19:50862903
(GRCh37)
- Canonical SPDI:
- NC_000019.10:50359645:C:T
- Gene:
- NAPSA (Varview), LOC105372437 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,missense_variant,intron_variant,coding_sequence_variant
- Validated:
- by frequency
- MAF:
T=0.000004/1
(GnomAD_exomes)
- HGVS:
8.
rs1490603623 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:50364685
(GRCh38)
19:50867942
(GRCh37)
- Canonical SPDI:
- NC_000019.10:50364684:A:G
- Gene:
- NAPSA (Varview), LOC105372437 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
9.
rs1490383782 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:50362960
(GRCh38)
19:50866217
(GRCh37)
- Canonical SPDI:
- NC_000019.10:50362959:C:T
- Gene:
- NAPSA (Varview), LOC105372437 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.0002/1
(
ALFA)
T=0.0002/1
(Estonian)
- HGVS:
10.
rs1490368775 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 19:50364848
(GRCh38)
19:50868105
(GRCh37)
- Canonical SPDI:
- NC_000019.10:50364847:C:A,NC_000019.10:50364847:C:T
- Gene:
- NAPSA (Varview), LOC105372437 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
T=0.000468/3
(1000Genomes)
- HGVS:
11.
rs1490355188 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:50358010
(GRCh38)
19:50861267
(GRCh37)
- Canonical SPDI:
- NC_000019.10:50358009:G:A
- Gene:
- NAPSA (Varview), LOC105372437 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,genic_downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
12.
rs1490224398 has merged into rs60930348 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TCTC>-,TC,TCTCTC,TCTCTCTC,TCTCTCTCTCTC,TCTCTCTCTCTCTCTC
[Show Flanks]
- Chromosome:
- 19:50367545
(GRCh38)
19:50870802
(GRCh37)
- Canonical SPDI:
- NC_000019.10:50367536:TCTCTCTCTCTC:TCTCTCTC,NC_000019.10:50367536:TCTCTCTCTCTC:TCTCTCTCTC,NC_000019.10:50367536:TCTCTCTCTCTC:TCTCTCTCTCTCTC,NC_000019.10:50367536:TCTCTCTCTCTC:TCTCTCTCTCTCTCTC,NC_000019.10:50367536:TCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTC,NC_000019.10:50367536:TCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTC
- Gene:
- NAPSA (Varview), LOC105372437 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTCTCTCTCTCTC=0./0
(
ALFA)
-=0.11682/25
(Vietnamese)
-=0.16212/297
(Korea1K)
-=0.1848/3097
(TOMMO)
-=0.225/9
(GENOME_DK)
-=0.26667/160
(NorthernSweden)
- HGVS:
NC_000019.10:g.50367537TC[4], NC_000019.10:g.50367537TC[5], NC_000019.10:g.50367537TC[7], NC_000019.10:g.50367537TC[8], NC_000019.10:g.50367537TC[10], NC_000019.10:g.50367537TC[12], NC_000019.9:g.50870794TC[4], NC_000019.9:g.50870794TC[5], NC_000019.9:g.50870794TC[7], NC_000019.9:g.50870794TC[8], NC_000019.9:g.50870794TC[10], NC_000019.9:g.50870794TC[12]
13.
rs1490222462 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 19:50364188
(GRCh38)
19:50867445
(GRCh37)
- Canonical SPDI:
- NC_000019.10:50364187:A:G
- Gene:
- NAPSA (Varview), LOC105372437 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
G=0.0006/4
(1000Genomes)
- HGVS:
14.
rs1489864076 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:50358481
(GRCh38)
19:50861738
(GRCh37)
- Canonical SPDI:
- NC_000019.10:50358480:T:C
- Gene:
- NAPSA (Varview), LOC105372437 (Varview)
- Functional Consequence:
- intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
15.
rs1489417880 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:50364351
(GRCh38)
19:50867608
(GRCh37)
- Canonical SPDI:
- NC_000019.10:50364350:T:C
- Gene:
- NAPSA (Varview), LOC105372437 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000169/2
(
ALFA)
C=0.000024/3
(GnomAD)
C=0.01848/54
(KOREAN)
- HGVS:
16.
rs1489223414 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 19:50360203
(GRCh38)
19:50863460
(GRCh37)
- Canonical SPDI:
- NC_000019.10:50360202:G:A
- Gene:
- NAPSA (Varview), LOC105372437 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
17.
rs1489199662 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:50366354
(GRCh38)
19:50869611
(GRCh37)
- Canonical SPDI:
- NC_000019.10:50366353:C:T
- Gene:
- NAPSA (Varview), LOC105372437 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.000007/1
(GnomAD)
T=0.000035/1
(TOMMO)
- HGVS:
18.
rs1488784673 has merged into rs60930348 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TCTC>-,TC,TCTCTC,TCTCTCTC,TCTCTCTCTCTC,TCTCTCTCTCTCTCTC
[Show Flanks]
- Chromosome:
- 19:50367545
(GRCh38)
19:50870802
(GRCh37)
- Canonical SPDI:
- NC_000019.10:50367536:TCTCTCTCTCTC:TCTCTCTC,NC_000019.10:50367536:TCTCTCTCTCTC:TCTCTCTCTC,NC_000019.10:50367536:TCTCTCTCTCTC:TCTCTCTCTCTCTC,NC_000019.10:50367536:TCTCTCTCTCTC:TCTCTCTCTCTCTCTC,NC_000019.10:50367536:TCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTC,NC_000019.10:50367536:TCTCTCTCTCTC:TCTCTCTCTCTCTCTCTCTCTCTC
- Gene:
- NAPSA (Varview), LOC105372437 (Varview)
- Functional Consequence:
- genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCTCTCTCTCTCTC=0./0
(
ALFA)
-=0.11682/25
(Vietnamese)
-=0.16212/297
(Korea1K)
-=0.1848/3097
(TOMMO)
-=0.225/9
(GENOME_DK)
-=0.26667/160
(NorthernSweden)
- HGVS:
NC_000019.10:g.50367537TC[4], NC_000019.10:g.50367537TC[5], NC_000019.10:g.50367537TC[7], NC_000019.10:g.50367537TC[8], NC_000019.10:g.50367537TC[10], NC_000019.10:g.50367537TC[12], NC_000019.9:g.50870794TC[4], NC_000019.9:g.50870794TC[5], NC_000019.9:g.50870794TC[7], NC_000019.9:g.50870794TC[8], NC_000019.9:g.50870794TC[10], NC_000019.9:g.50870794TC[12]
19.
rs1488702031 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 19:50366639
(GRCh38)
19:50869896
(GRCh37)
- Canonical SPDI:
- NC_000019.10:50366638:T:C
- Gene:
- NAPSA (Varview), LOC105372437 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
C=0.000022/3
(GnomAD)
- HGVS:
20.
rs1488396727 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 19:50366763
(GRCh38)
19:50870020
(GRCh37)
- Canonical SPDI:
- NC_000019.10:50366762:C:T
- Gene:
- NAPSA (Varview), LOC105372437 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,genic_downstream_transcript_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS: