SNP Links for Gene (Select 84798) - 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 14899215965.

rs1489921596 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:50804631 (GRCh38)
19:51307888 (GRCh37)
Canonical SPDI:: NC_000019.10:50804630:C:T
Gene:: C19orf48 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.50804631C>T, NC_000019.9:g.51307888C>T, NM_199249.2:c.-836G>A, NM_199250.2:c.-675G>A, NM_001290149.1:c.-1180G>A, NM_001290154.1:c.-858G>A, NM_001290153.1:c.-802G>A, NM_001290155.1:c.-697G>A, NM_199249.1:c.-836G>A, NM_001290151.1:c.-664G>A, NM_001290152.1:c.-641G>A, NM_001290150.1:c.-611G>A, NM_199250.1:c.-675G>A

Select item 14898355256.

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 14895481317.

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 14888101018.

rs1488810101 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:50802597 (GRCh38)
19:51305854 (GRCh37)
Canonical SPDI:: NC_000019.10:50802596:T:C
Gene:: C19orf48 (Varview), SNORD88C (Varview)
Functional Consequence:: non_coding_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.50802597T>C, NC_000019.9:g.51305854T>C, NM_199249.3:c.-759A>G, NM_001290149.2:c.-781A>G, NM_199249.2:c.-759A>G, NM_001290154.2:c.-781A>G, NM_001290153.2:c.-725A>G, NM_001290149.1:c.-781A>G, NR_171556.1:n.363A>G, NM_001290154.1:c.-781A>G, NM_001290153.1:c.-725A>G, NM_199249.1:c.-759A>G, NR_171563.1:n.41A>G, NR_171554.1:n.41A>G, NR_171562.1:n.41A>G

Select item 14885829199.

rs1488582919 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:50798130 (GRCh38)
19:51301387 (GRCh37)
Canonical SPDI:: NC_000019.10:50798129:G:C
Gene:: C19orf48 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000005/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.50798130G>C, NC_000019.9:g.51301387G>C, NM_199249.3:c.319C>G, NM_032712.3:c.319C>G, NM_199250.3:c.319C>G, NM_001290149.2:c.319C>G, NM_199249.2:c.319C>G, NM_199250.2:c.319C>G, NM_001290154.2:c.319C>G, NM_001290153.2:c.319C>G, NM_032712.2:c.319C>G, NM_001290155.2:c.319C>G, NM_001290151.2:c.319C>G, NM_001290152.2:c.319C>G, NM_001290150.2:c.319C>G, NM_001290149.1:c.319C>G, NR_171556.1:n.1462C>G, NM_001290154.1:c.319C>G, NM_001290153.1:c.319C>G, NM_001290155.1:c.319C>G, NM_199249.1:c.319C>G, NM_001290151.1:c.319C>G, NM_001290152.1:c.319C>G, NM_001290150.1:c.319C>G, NR_171563.1:n.1140C>G, NR_171554.1:n.1118C>G, NR_171562.1:n.1084C>G, NM_199250.1:c.319C>G, NR_171558.1:n.1062C>G, NR_171561.1:n.979C>G, NR_171555.1:n.957C>G, NR_171559.1:n.946C>G, NR_171560.1:n.923C>G, NR_171557.1:n.893C>G, NM_032712.1:c.319C>G

Select item 148841926710.

rs1488419267 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:50797275 (GRCh38)
19:51300532 (GRCh37)
Canonical SPDI:: NC_000019.10:50797274:C:G
Gene:: C19orf48 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.50797275C>G, NC_000019.9:g.51300532C>G

Select item 148834900511.

rs1488349005 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:50797957 (GRCh38)
19:51301214 (GRCh37)
Canonical SPDI:: NC_000019.10:50797956:G:A
Gene:: C19orf48 (Varview)
Functional Consequence:: non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.50797957G>A, NC_000019.9:g.51301214G>A, NM_199249.3:c.*138C>T, NM_032712.3:c.*138C>T, NM_199250.3:c.*138C>T, NM_001290149.2:c.*138C>T, NM_199249.2:c.*138C>T, NM_199250.2:c.*138C>T, NM_001290154.2:c.*138C>T, NM_001290153.2:c.*138C>T, NM_032712.2:c.*138C>T, NM_001290155.2:c.*138C>T, NM_001290151.2:c.*138C>T, NM_001290152.2:c.*138C>T, NM_001290150.2:c.*138C>T, NM_001290149.1:c.*138C>T, NR_171556.1:n.1635C>T, NM_001290154.1:c.*138C>T, NM_001290153.1:c.*138C>T, NM_001290155.1:c.*138C>T, NM_199249.1:c.*138C>T, NM_001290151.1:c.*138C>T, NM_001290152.1:c.*138C>T, NM_001290150.1:c.*138C>T, NR_171563.1:n.1313C>T, NR_171554.1:n.1291C>T, NR_171562.1:n.1257C>T, NM_199250.1:c.*138C>T, NR_171558.1:n.1235C>T, NR_171561.1:n.1152C>T, NR_171555.1:n.1130C>T, NR_171559.1:n.1119C>T, NR_171560.1:n.1096C>T, NR_171557.1:n.1066C>T, NM_032712.1:c.*138C>T

Select item 148812907812.

rs1488129078 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:50803337 (GRCh38)
19:51306594 (GRCh37)
Canonical SPDI:: NC_000019.10:50803336:G:C
Gene:: C19orf48 (Varview), SNORD88C (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.50803337G>C, NC_000019.9:g.51306594G>C

Select item 148810575413.

rs1488105754 [Homo sapiens]

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

Select item 148792148214.

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 148770019215.

rs1487700192 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:50804231 (GRCh38)
19:51307488 (GRCh37)
Canonical SPDI:: NC_000019.10:50804230:C:T
Gene:: C19orf48 (Varview), SNORD88C (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.50804231C>T, NC_000019.9:g.51307488C>T

Select item 148759073516.

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 148705468217.

rs1487054682 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:50801137 (GRCh38)
19:51304394 (GRCh37)
Canonical SPDI:: NC_000019.10:50801136:A:G
Gene:: C19orf48 (Varview), SNORD88A (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000021/3 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000019.10:g.50801137A>G, NC_000019.9:g.51304394A>G

Select item 148703948318.

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 148683728019.

rs1486837280 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 19:50805823 (GRCh38)
19:51309080 (GRCh37)
Canonical SPDI:: NC_000019.10:50805822:T:
Gene:: C19orf48 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000019.10:g.50805823del, NC_000019.9:g.51309080del

Select item 148681744320.

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

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