SNP Links for Gene (Select 692203) - SNP

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Select item 14912916471.

rs1491291647 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->TAAAAAAAAAAAAAAA
Chromosome:: no mapping
Canonical SPDI:

Select item 14911373052.

rs1491137305 has merged into rs71185760 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:50800764 (GRCh38)
19:51304021 (GRCh37)
Canonical SPDI:: NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: C19orf48 (Varview), SNORD88A (Varview), SNORD88B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAAA=0./0 (GENOME_DK)
-=0.3389/1697 (1000Genomes)
HGVS:: NC_000019.10:g.50800764_50800776del, NC_000019.10:g.50800765_50800776del, NC_000019.10:g.50800767_50800776del, NC_000019.10:g.50800768_50800776del, NC_000019.10:g.50800769_50800776del, NC_000019.10:g.50800770_50800776del, NC_000019.10:g.50800771_50800776del, NC_000019.10:g.50800772_50800776del, NC_000019.10:g.50800773_50800776del, NC_000019.10:g.50800774_50800776del, NC_000019.10:g.50800775_50800776del, NC_000019.10:g.50800776del, NC_000019.10:g.50800776dup, NC_000019.10:g.50800775_50800776dup, NC_000019.10:g.50800774_50800776dup, NC_000019.10:g.50800773_50800776dup, NC_000019.10:g.50800772_50800776dup, NC_000019.10:g.50800771_50800776dup, NC_000019.10:g.50800770_50800776dup, NC_000019.10:g.50800769_50800776dup, NC_000019.10:g.50800768_50800776dup, NC_000019.10:g.50800767_50800776dup, NC_000019.10:g.50800766_50800776dup, NC_000019.10:g.50800765_50800776dup, NC_000019.10:g.50800764_50800776dup, NC_000019.10:g.50800763_50800776dup, NC_000019.10:g.50800762_50800776dup, NC_000019.10:g.50800761_50800776dup, NC_000019.10:g.50800760_50800776dup, NC_000019.10:g.50800759_50800776dup, NC_000019.10:g.50800758_50800776dup, NC_000019.10:g.50800757_50800776dup, NC_000019.10:g.50800776_50800777insAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.50800776_50800777insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.50800776_50800777insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.50800776_50800777insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.50800776_50800777insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.50800776_50800777insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.50800776_50800777insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.50800776_50800777insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.50800776_50800777insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.50800776_50800777insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.50800776_50800777insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.51304021_51304033del, NC_000019.9:g.51304022_51304033del, NC_000019.9:g.51304024_51304033del, NC_000019.9:g.51304025_51304033del, NC_000019.9:g.51304026_51304033del, NC_000019.9:g.51304027_51304033del, NC_000019.9:g.51304028_51304033del, NC_000019.9:g.51304029_51304033del, NC_000019.9:g.51304030_51304033del, NC_000019.9:g.51304031_51304033del, NC_000019.9:g.51304032_51304033del, NC_000019.9:g.51304033del, NC_000019.9:g.51304033dup, NC_000019.9:g.51304032_51304033dup, NC_000019.9:g.51304031_51304033dup, NC_000019.9:g.51304030_51304033dup, NC_000019.9:g.51304029_51304033dup, NC_000019.9:g.51304028_51304033dup, NC_000019.9:g.51304027_51304033dup, NC_000019.9:g.51304026_51304033dup, NC_000019.9:g.51304025_51304033dup, NC_000019.9:g.51304024_51304033dup, NC_000019.9:g.51304023_51304033dup, NC_000019.9:g.51304022_51304033dup, NC_000019.9:g.51304021_51304033dup, NC_000019.9:g.51304020_51304033dup, NC_000019.9:g.51304019_51304033dup, NC_000019.9:g.51304018_51304033dup, NC_000019.9:g.51304017_51304033dup, NC_000019.9:g.51304016_51304033dup, NC_000019.9:g.51304015_51304033dup, NC_000019.9:g.51304014_51304033dup, NC_000019.9:g.51304033_51304034insAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.51304033_51304034insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.51304033_51304034insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.51304033_51304034insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.51304033_51304034insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.51304033_51304034insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.51304033_51304034insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.51304033_51304034insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.51304033_51304034insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.51304033_51304034insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.51304033_51304034insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14910203693.

rs1491020369 has merged into rs71185759 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:50800595 (GRCh38)
19:51303852 (GRCh37)
Canonical SPDI:: NC_000019.10:50800586:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000019.10:50800586:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:50800586:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:50800586:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:50800586:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:50800586:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:50800586:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:50800586:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800586:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800586:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800586:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800586:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800586:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800586:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800586:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800586:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800586:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800586:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800586:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800586:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: C19orf48 (Varview), SNORD88A (Varview), SNORD88B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.50800595_50800605del, NC_000019.10:g.50800600_50800605del, NC_000019.10:g.50800601_50800605del, NC_000019.10:g.50800602_50800605del, NC_000019.10:g.50800603_50800605del, NC_000019.10:g.50800604_50800605del, NC_000019.10:g.50800605del, NC_000019.10:g.50800605dup, NC_000019.10:g.50800604_50800605dup, NC_000019.10:g.50800603_50800605dup, NC_000019.10:g.50800602_50800605dup, NC_000019.10:g.50800601_50800605dup, NC_000019.10:g.50800600_50800605dup, NC_000019.10:g.50800599_50800605dup, NC_000019.10:g.50800598_50800605dup, NC_000019.10:g.50800597_50800605dup, NC_000019.10:g.50800595_50800605dup, NC_000019.10:g.50800594_50800605dup, NC_000019.10:g.50800593_50800605dup, NC_000019.10:g.50800592_50800605dup, NC_000019.9:g.51303852_51303862del, NC_000019.9:g.51303857_51303862del, NC_000019.9:g.51303858_51303862del, NC_000019.9:g.51303859_51303862del, NC_000019.9:g.51303860_51303862del, NC_000019.9:g.51303861_51303862del, NC_000019.9:g.51303862del, NC_000019.9:g.51303862dup, NC_000019.9:g.51303861_51303862dup, NC_000019.9:g.51303860_51303862dup, NC_000019.9:g.51303859_51303862dup, NC_000019.9:g.51303858_51303862dup, NC_000019.9:g.51303857_51303862dup, NC_000019.9:g.51303856_51303862dup, NC_000019.9:g.51303855_51303862dup, NC_000019.9:g.51303854_51303862dup, NC_000019.9:g.51303852_51303862dup, NC_000019.9:g.51303851_51303862dup, NC_000019.9:g.51303850_51303862dup, NC_000019.9:g.51303849_51303862dup

Select item 14903791904.

rs1490379190 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:50799168 (GRCh38)
19:51302425 (GRCh37)
Canonical SPDI:: NC_000019.10:50799167:C:T
Gene:: C19orf48 (Varview), SNORD88A (Varview), SNORD88B (Varview)
Functional Consequence:: 2KB_upstream_variant,500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
T=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.50799168C>T, NC_000019.9:g.51302425C>T

Select item 14898355255.

rs1489835525 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:50800314 (GRCh38)
19:51303571 (GRCh37)
Canonical SPDI:: NC_000019.10:50800313:G:A
Gene:: C19orf48 (Varview), SNORD88A (Varview), SNORD88B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.50800314G>A, NC_000019.9:g.51303571G>A

Select item 14895481316.

rs1489548131 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:50800589 (GRCh38)
19:51303846 (GRCh37)
Canonical SPDI:: NC_000019.10:50800588:A:C
Gene:: C19orf48 (Varview), SNORD88A (Varview), SNORD88B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000019.10:g.50800589A>C, NC_000019.9:g.51303846A>C

Select item 14881057547.

rs1488105754 [Homo sapiens]

Variant type:: SNV:
Alleles:: G>A
Chromosome:: no mapping
Canonical SPDI:

Select item 14879214828.

rs1487921482 has merged into rs71185760 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:50800764 (GRCh38)
19:51304021 (GRCh37)
Canonical SPDI:: NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800754:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: C19orf48 (Varview), SNORD88A (Varview), SNORD88B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAAA=0./0 (GENOME_DK)
-=0.3389/1697 (1000Genomes)
HGVS:: NC_000019.10:g.50800764_50800776del, NC_000019.10:g.50800765_50800776del, NC_000019.10:g.50800767_50800776del, NC_000019.10:g.50800768_50800776del, NC_000019.10:g.50800769_50800776del, NC_000019.10:g.50800770_50800776del, NC_000019.10:g.50800771_50800776del, NC_000019.10:g.50800772_50800776del, NC_000019.10:g.50800773_50800776del, NC_000019.10:g.50800774_50800776del, NC_000019.10:g.50800775_50800776del, NC_000019.10:g.50800776del, NC_000019.10:g.50800776dup, NC_000019.10:g.50800775_50800776dup, NC_000019.10:g.50800774_50800776dup, NC_000019.10:g.50800773_50800776dup, NC_000019.10:g.50800772_50800776dup, NC_000019.10:g.50800771_50800776dup, NC_000019.10:g.50800770_50800776dup, NC_000019.10:g.50800769_50800776dup, NC_000019.10:g.50800768_50800776dup, NC_000019.10:g.50800767_50800776dup, NC_000019.10:g.50800766_50800776dup, NC_000019.10:g.50800765_50800776dup, NC_000019.10:g.50800764_50800776dup, NC_000019.10:g.50800763_50800776dup, NC_000019.10:g.50800762_50800776dup, NC_000019.10:g.50800761_50800776dup, NC_000019.10:g.50800760_50800776dup, NC_000019.10:g.50800759_50800776dup, NC_000019.10:g.50800758_50800776dup, NC_000019.10:g.50800757_50800776dup, NC_000019.10:g.50800776_50800777insAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.50800776_50800777insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.50800776_50800777insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.50800776_50800777insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.50800776_50800777insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.50800776_50800777insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.50800776_50800777insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.50800776_50800777insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.50800776_50800777insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.50800776_50800777insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.10:g.50800776_50800777insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.51304021_51304033del, NC_000019.9:g.51304022_51304033del, NC_000019.9:g.51304024_51304033del, NC_000019.9:g.51304025_51304033del, NC_000019.9:g.51304026_51304033del, NC_000019.9:g.51304027_51304033del, NC_000019.9:g.51304028_51304033del, NC_000019.9:g.51304029_51304033del, NC_000019.9:g.51304030_51304033del, NC_000019.9:g.51304031_51304033del, NC_000019.9:g.51304032_51304033del, NC_000019.9:g.51304033del, NC_000019.9:g.51304033dup, NC_000019.9:g.51304032_51304033dup, NC_000019.9:g.51304031_51304033dup, NC_000019.9:g.51304030_51304033dup, NC_000019.9:g.51304029_51304033dup, NC_000019.9:g.51304028_51304033dup, NC_000019.9:g.51304027_51304033dup, NC_000019.9:g.51304026_51304033dup, NC_000019.9:g.51304025_51304033dup, NC_000019.9:g.51304024_51304033dup, NC_000019.9:g.51304023_51304033dup, NC_000019.9:g.51304022_51304033dup, NC_000019.9:g.51304021_51304033dup, NC_000019.9:g.51304020_51304033dup, NC_000019.9:g.51304019_51304033dup, NC_000019.9:g.51304018_51304033dup, NC_000019.9:g.51304017_51304033dup, NC_000019.9:g.51304016_51304033dup, NC_000019.9:g.51304015_51304033dup, NC_000019.9:g.51304014_51304033dup, NC_000019.9:g.51304033_51304034insAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.51304033_51304034insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.51304033_51304034insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.51304033_51304034insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.51304033_51304034insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.51304033_51304034insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.51304033_51304034insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.51304033_51304034insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.51304033_51304034insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.51304033_51304034insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000019.9:g.51304033_51304034insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14875907359.

rs1487590735 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C,T [Show Flanks]
Chromosome:: 19:50801069 (GRCh38)
19:51304326 (GRCh37)
Canonical SPDI:: NC_000019.10:50801068:G:A,NC_000019.10:50801068:G:C,NC_000019.10:50801068:G:T
Gene:: C19orf48 (Varview), SNORD88A (Varview), SNORD88B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.00005/7 (GnomAD)
HGVS:: NC_000019.10:g.50801069G>A, NC_000019.10:g.50801069G>C, NC_000019.10:g.50801069G>T, NC_000019.9:g.51304326G>A, NC_000019.9:g.51304326G>C, NC_000019.9:g.51304326G>T

Select item 148703948310.

rs1487039483 has merged into rs71185759 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:50800595 (GRCh38)
19:51303852 (GRCh37)
Canonical SPDI:: NC_000019.10:50800586:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000019.10:50800586:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:50800586:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:50800586:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:50800586:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:50800586:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000019.10:50800586:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:50800586:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800586:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800586:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800586:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800586:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800586:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800586:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800586:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800586:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800586:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800586:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800586:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000019.10:50800586:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: C19orf48 (Varview), SNORD88A (Varview), SNORD88B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000019.10:g.50800595_50800605del, NC_000019.10:g.50800600_50800605del, NC_000019.10:g.50800601_50800605del, NC_000019.10:g.50800602_50800605del, NC_000019.10:g.50800603_50800605del, NC_000019.10:g.50800604_50800605del, NC_000019.10:g.50800605del, NC_000019.10:g.50800605dup, NC_000019.10:g.50800604_50800605dup, NC_000019.10:g.50800603_50800605dup, NC_000019.10:g.50800602_50800605dup, NC_000019.10:g.50800601_50800605dup, NC_000019.10:g.50800600_50800605dup, NC_000019.10:g.50800599_50800605dup, NC_000019.10:g.50800598_50800605dup, NC_000019.10:g.50800597_50800605dup, NC_000019.10:g.50800595_50800605dup, NC_000019.10:g.50800594_50800605dup, NC_000019.10:g.50800593_50800605dup, NC_000019.10:g.50800592_50800605dup, NC_000019.9:g.51303852_51303862del, NC_000019.9:g.51303857_51303862del, NC_000019.9:g.51303858_51303862del, NC_000019.9:g.51303859_51303862del, NC_000019.9:g.51303860_51303862del, NC_000019.9:g.51303861_51303862del, NC_000019.9:g.51303862del, NC_000019.9:g.51303862dup, NC_000019.9:g.51303861_51303862dup, NC_000019.9:g.51303860_51303862dup, NC_000019.9:g.51303859_51303862dup, NC_000019.9:g.51303858_51303862dup, NC_000019.9:g.51303857_51303862dup, NC_000019.9:g.51303856_51303862dup, NC_000019.9:g.51303855_51303862dup, NC_000019.9:g.51303854_51303862dup, NC_000019.9:g.51303852_51303862dup, NC_000019.9:g.51303851_51303862dup, NC_000019.9:g.51303850_51303862dup, NC_000019.9:g.51303849_51303862dup

Select item 148681744311.

rs1486817443 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:50799728 (GRCh38)
19:51302985 (GRCh37)
Canonical SPDI:: NC_000019.10:50799727:C:T
Gene:: C19orf48 (Varview), SNORD88A (Varview), SNORD88B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
HGVS:: NC_000019.10:g.50799728C>T, NC_000019.9:g.51302985C>T

Select item 148590983812.

rs1485909838 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:50798995 (GRCh38)
19:51302252 (GRCh37)
Canonical SPDI:: NC_000019.10:50798994:G:A
Gene:: C19orf48 (Varview), SNORD88A (Varview), SNORD88B (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000019.10:g.50798995G>A, NC_000019.9:g.51302252G>A

Select item 148465164213.

rs1484651642 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:50799808 (GRCh38)
19:51303065 (GRCh37)
Canonical SPDI:: NC_000019.10:50799807:G:A,NC_000019.10:50799807:G:C
Gene:: C19orf48 (Varview), SNORD88A (Varview), SNORD88B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00007/1 (ALFA)
HGVS:: NC_000019.10:g.50799808G>A, NC_000019.10:g.50799808G>C, NC_000019.9:g.51303065G>A, NC_000019.9:g.51303065G>C

Select item 148271786414.

rs1482717864 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:50800562 (GRCh38)
19:51303819 (GRCh37)
Canonical SPDI:: NC_000019.10:50800561:G:A
Gene:: C19orf48 (Varview), SNORD88A (Varview), SNORD88B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.50800562G>A, NC_000019.9:g.51303819G>A

Select item 148095004515.

rs1480950045 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:50798922 (GRCh38)
19:51302179 (GRCh37)
Canonical SPDI:: NC_000019.10:50798921:C:A,NC_000019.10:50798921:C:T
Gene:: C19orf48 (Varview), SNORD88B (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000078/11 (GnomAD)
T=0.000094/25 (TOPMED)
HGVS:: NC_000019.10:g.50798922C>A, NC_000019.10:g.50798922C>T, NC_000019.9:g.51302179C>A, NC_000019.9:g.51302179C>T, NM_199249.3:c.-474G>T, NM_199249.3:c.-474G>A, NM_032712.3:c.-474G>T, NM_032712.3:c.-474G>A, NM_199250.3:c.-474G>T, NM_199250.3:c.-474G>A, NM_001290149.2:c.-474G>T, NM_001290149.2:c.-474G>A, NM_199249.2:c.-474G>T, NM_199249.2:c.-474G>A, NM_199250.2:c.-474G>T, NM_199250.2:c.-474G>A, NM_001290154.2:c.-474G>T, NM_001290154.2:c.-474G>A, NM_001290153.2:c.-474G>T, NM_001290153.2:c.-474G>A, NM_032712.2:c.-474G>T, NM_032712.2:c.-474G>A, NM_001290155.2:c.-474G>T, NM_001290155.2:c.-474G>A, NM_001290151.2:c.-474G>T, NM_001290151.2:c.-474G>A, NM_001290152.2:c.-474G>T, NM_001290152.2:c.-474G>A, NM_001290150.2:c.-474G>T, NM_001290150.2:c.-474G>A, NM_001290149.1:c.-474G>T, NM_001290149.1:c.-474G>A, NR_171556.1:n.670G>T, NR_171556.1:n.670G>A, NM_001290154.1:c.-474G>T, NM_001290154.1:c.-474G>A, NM_001290153.1:c.-474G>T, NM_001290153.1:c.-474G>A, NM_001290155.1:c.-474G>T, NM_001290155.1:c.-474G>A, NM_199249.1:c.-474G>T, NM_199249.1:c.-474G>A, NM_001290151.1:c.-474G>T, NM_001290151.1:c.-474G>A, NM_001290152.1:c.-474G>T, NM_001290152.1:c.-474G>A, NM_001290150.1:c.-474G>T, NM_001290150.1:c.-474G>A, NR_171563.1:n.348G>T, NR_171563.1:n.348G>A, NR_171554.1:n.326G>T, NR_171554.1:n.326G>A, NR_171562.1:n.292G>T, NR_171562.1:n.292G>A, NM_199250.1:c.-474G>T, NM_199250.1:c.-474G>A, NR_171558.1:n.270G>T, NR_171558.1:n.270G>A, NR_171561.1:n.187G>T, NR_171561.1:n.187G>A, NR_171555.1:n.165G>T, NR_171555.1:n.165G>A, NR_171559.1:n.154G>T, NR_171559.1:n.154G>A, NR_171560.1:n.131G>T, NR_171560.1:n.131G>A, NR_171557.1:n.101G>T, NR_171557.1:n.101G>A, NM_032712.1:c.-474G>T, NM_032712.1:c.-474G>A

Select item 148075416416.

rs1480754164 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:50800954 (GRCh38)
19:51304211 (GRCh37)
Canonical SPDI:: NC_000019.10:50800953:T:C
Gene:: C19orf48 (Varview), SNORD88A (Varview), SNORD88B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.50800954T>C, NC_000019.9:g.51304211T>C

Select item 148028565317.

rs1480285653 [Homo sapiens]

Variant type:: SNV:
Alleles:: CAGG>-
Chromosome:: no mapping
Canonical SPDI:

Select item 148027135218.

rs1480271352 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 19:50798783 (GRCh38)
19:51302040 (GRCh37)
Canonical SPDI:: NC_000019.10:50798782:C:G,NC_000019.10:50798782:C:T
Gene:: C19orf48 (Varview), SNORD88B (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.50798783C>G, NC_000019.10:g.50798783C>T, NC_000019.9:g.51302040C>G, NC_000019.9:g.51302040C>T, NM_199249.3:c.-335G>C, NM_199249.3:c.-335G>A, NM_032712.3:c.-335G>C, NM_032712.3:c.-335G>A, NM_199250.3:c.-335G>C, NM_199250.3:c.-335G>A, NM_001290149.2:c.-335G>C, NM_001290149.2:c.-335G>A, NM_199249.2:c.-335G>C, NM_199249.2:c.-335G>A, NM_199250.2:c.-335G>C, NM_199250.2:c.-335G>A, NM_001290154.2:c.-335G>C, NM_001290154.2:c.-335G>A, NM_001290153.2:c.-335G>C, NM_001290153.2:c.-335G>A, NM_032712.2:c.-335G>C, NM_032712.2:c.-335G>A, NM_001290155.2:c.-335G>C, NM_001290155.2:c.-335G>A, NM_001290151.2:c.-335G>C, NM_001290151.2:c.-335G>A, NM_001290152.2:c.-335G>C, NM_001290152.2:c.-335G>A, NM_001290150.2:c.-335G>C, NM_001290150.2:c.-335G>A, NM_001290149.1:c.-335G>C, NM_001290149.1:c.-335G>A, NR_171556.1:n.809G>C, NR_171556.1:n.809G>A, NM_001290154.1:c.-335G>C, NM_001290154.1:c.-335G>A, NM_001290153.1:c.-335G>C, NM_001290153.1:c.-335G>A, NM_001290155.1:c.-335G>C, NM_001290155.1:c.-335G>A, NM_199249.1:c.-335G>C, NM_199249.1:c.-335G>A, NM_001290151.1:c.-335G>C, NM_001290151.1:c.-335G>A, NM_001290152.1:c.-335G>C, NM_001290152.1:c.-335G>A, NM_001290150.1:c.-335G>C, NM_001290150.1:c.-335G>A, NR_171563.1:n.487G>C, NR_171563.1:n.487G>A, NR_171554.1:n.465G>C, NR_171554.1:n.465G>A, NR_171562.1:n.431G>C, NR_171562.1:n.431G>A, NM_199250.1:c.-335G>C, NM_199250.1:c.-335G>A, NR_171558.1:n.409G>C, NR_171558.1:n.409G>A, NR_171561.1:n.326G>C, NR_171561.1:n.326G>A, NR_171555.1:n.304G>C, NR_171555.1:n.304G>A, NR_171559.1:n.293G>C, NR_171559.1:n.293G>A, NR_171560.1:n.270G>C, NR_171560.1:n.270G>A, NR_171557.1:n.240G>C, NR_171557.1:n.240G>A, NM_032712.1:c.-335G>C, NM_032712.1:c.-335G>A

Select item 147988883719.

rs1479888837 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 19:50800049 (GRCh38)
19:51303306 (GRCh37)
Canonical SPDI:: NC_000019.10:50800048:C:A,NC_000019.10:50800048:C:T
Gene:: C19orf48 (Varview), SNORD88A (Varview), SNORD88B (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.50800049C>A, NC_000019.10:g.50800049C>T, NC_000019.9:g.51303306C>A, NC_000019.9:g.51303306C>T

Select item 147952244320.

rs1479522443 [Homo sapiens]

Variant type:: INS
Alleles:: ->TCAGTCTTGCTG [Show Flanks]
Chromosome:: 19:50798835 (GRCh38)
19:51302093 (GRCh37)
Canonical SPDI:: NC_000019.10:50798835::TCAGTCTTGCTG
Gene:: C19orf48 (Varview), SNORD88B (Varview)
Functional Consequence:: non_coding_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: TCAGTCTTGCTG=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.50798835_50798836insTCAGTCTTGCTG, NC_000019.9:g.51302092_51302093insTCAGTCTTGCTG, NM_199249.3:c.-388_-387insCAGCAAGACTGA, NM_032712.3:c.-388_-387insCAGCAAGACTGA, NM_199250.3:c.-388_-387insCAGCAAGACTGA, NM_001290149.2:c.-388_-387insCAGCAAGACTGA, NM_199249.2:c.-388_-387insCAGCAAGACTGA, NM_199250.2:c.-388_-387insCAGCAAGACTGA, NM_001290154.2:c.-388_-387insCAGCAAGACTGA, NM_001290153.2:c.-388_-387insCAGCAAGACTGA, NM_032712.2:c.-388_-387insCAGCAAGACTGA, NM_001290155.2:c.-388_-387insCAGCAAGACTGA, NM_001290151.2:c.-388_-387insCAGCAAGACTGA, NM_001290152.2:c.-388_-387insCAGCAAGACTGA, NM_001290150.2:c.-388_-387insCAGCAAGACTGA, NM_001290149.1:c.-388_-387insCAGCAAGACTGA, NR_171556.1:n.756_757insCAGCAAGACTGA, NM_001290154.1:c.-388_-387insCAGCAAGACTGA, NM_001290153.1:c.-388_-387insCAGCAAGACTGA, NM_001290155.1:c.-388_-387insCAGCAAGACTGA, NM_199249.1:c.-388_-387insCAGCAAGACTGA, NM_001290151.1:c.-388_-387insCAGCAAGACTGA, NM_001290152.1:c.-388_-387insCAGCAAGACTGA, NM_001290150.1:c.-388_-387insCAGCAAGACTGA, NR_171563.1:n.434_435insCAGCAAGACTGA, NR_171554.1:n.412_413insCAGCAAGACTGA, NR_171562.1:n.378_379insCAGCAAGACTGA, NM_199250.1:c.-388_-387insCAGCAAGACTGA, NR_171558.1:n.356_357insCAGCAAGACTGA, NR_171561.1:n.273_274insCAGCAAGACTGA, NR_171555.1:n.251_252insCAGCAAGACTGA, NR_171559.1:n.240_241insCAGCAAGACTGA, NR_171560.1:n.217_218insCAGCAAGACTGA, NR_171557.1:n.187_188insCAGCAAGACTGA, NM_032712.1:c.-388_-387insCAGCAAGACTGA

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