Links from Gene
Items: 1 to 20 of 6512
2.
rs1491407017 has merged into rs10706394 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAA>-,A,AA,AAAA,AAAAA
[Show Flanks]
- Chromosome:
- 14:64967596
(GRCh38)
14:65434314
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64967585:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000014.9:64967585:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:64967585:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:64967585:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:64967585:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
- Gene:
- RAB15 (Varview), CHURC1-FNTB (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.0343/132
(ALSPAC)
-=0.3899/1827
(1000Genomes)
- HGVS:
3.
rs1491265149 has merged into rs573399507 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 14:64956948
(GRCh38)
14:65423666
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64956935:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:64956935:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:64956935:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:64956935:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:64956935:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:64956935:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:64956935:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000014.9:64956935:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:64956935:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:64956935:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- RAB15 (Varview), CHURC1-FNTB (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
T=0.3626/1816
(1000Genomes)
- HGVS:
NC_000014.9:g.64956948_64956950del, NC_000014.9:g.64956949_64956950del, NC_000014.9:g.64956950del, NC_000014.9:g.64956950dup, NC_000014.9:g.64956949_64956950dup, NC_000014.9:g.64956948_64956950dup, NC_000014.9:g.64956947_64956950dup, NC_000014.9:g.64956946_64956950dup, NC_000014.9:g.64956944_64956950dup, NC_000014.9:g.64956941_64956950dup, NC_000014.8:g.65423666_65423668del, NC_000014.8:g.65423667_65423668del, NC_000014.8:g.65423668del, NC_000014.8:g.65423668dup, NC_000014.8:g.65423667_65423668dup, NC_000014.8:g.65423666_65423668dup, NC_000014.8:g.65423665_65423668dup, NC_000014.8:g.65423664_65423668dup, NC_000014.8:g.65423662_65423668dup, NC_000014.8:g.65423659_65423668dup
4.
rs1491146222 has merged into rs1257040368 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:64964523
(GRCh38)
14:65431241
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64964518:AAAAAAAAAAAA:AAAA,NC_000014.9:64964518:AAAAAAAAAAAA:AAAAAAAAA,NC_000014.9:64964518:AAAAAAAAAAAA:AAAAAAAAAA,NC_000014.9:64964518:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:64964518:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:64964518:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:64964518:AAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:64964518:AAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:64964518:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:64964518:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:64964518:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:64964518:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64964518:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64964518:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- RAB15 (Varview), CHURC1-FNTB (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAA=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
NC_000014.9:g.64964523_64964530del, NC_000014.9:g.64964528_64964530del, NC_000014.9:g.64964529_64964530del, NC_000014.9:g.64964530del, NC_000014.9:g.64964530dup, NC_000014.9:g.64964529_64964530dup, NC_000014.9:g.64964528_64964530dup, NC_000014.9:g.64964527_64964530dup, NC_000014.9:g.64964525_64964530dup, NC_000014.9:g.64964524_64964530dup, NC_000014.9:g.64964523_64964530dup, NC_000014.9:g.64964520_64964530dup, NC_000014.9:g.64964530_64964531insAAAAAAAAAAAAAAA, NC_000014.9:g.64964530_64964531insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.65431241_65431248del, NC_000014.8:g.65431246_65431248del, NC_000014.8:g.65431247_65431248del, NC_000014.8:g.65431248del, NC_000014.8:g.65431248dup, NC_000014.8:g.65431247_65431248dup, NC_000014.8:g.65431246_65431248dup, NC_000014.8:g.65431245_65431248dup, NC_000014.8:g.65431243_65431248dup, NC_000014.8:g.65431242_65431248dup, NC_000014.8:g.65431241_65431248dup, NC_000014.8:g.65431238_65431248dup, NC_000014.8:g.65431248_65431249insAAAAAAAAAAAAAAA, NC_000014.8:g.65431248_65431249insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
5.
rs1491057081 has merged into rs34981340 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:64959859
(GRCh38)
14:65426577
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64959848:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000014.9:64959848:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:64959848:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:64959848:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000014.9:64959848:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:64959848:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:64959848:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:64959848:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000014.9:64959848:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:64959848:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:64959848:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64959848:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64959848:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64959848:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64959848:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64959848:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64959848:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64959848:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64959848:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64959848:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64959848:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64959848:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- RAB15 (Varview), CHURC1-FNTB (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
NC_000014.9:g.64959859_64959872del, NC_000014.9:g.64959861_64959872del, NC_000014.9:g.64959862_64959872del, NC_000014.9:g.64959863_64959872del, NC_000014.9:g.64959864_64959872del, NC_000014.9:g.64959865_64959872del, NC_000014.9:g.64959866_64959872del, NC_000014.9:g.64959867_64959872del, NC_000014.9:g.64959868_64959872del, NC_000014.9:g.64959869_64959872del, NC_000014.9:g.64959870_64959872del, NC_000014.9:g.64959871_64959872del, NC_000014.9:g.64959872del, NC_000014.9:g.64959872dup, NC_000014.9:g.64959871_64959872dup, NC_000014.9:g.64959870_64959872dup, NC_000014.9:g.64959869_64959872dup, NC_000014.9:g.64959868_64959872dup, NC_000014.9:g.64959867_64959872dup, NC_000014.9:g.64959866_64959872dup, NC_000014.9:g.64959865_64959872dup, NC_000014.9:g.64959872_64959873insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.65426577_65426590del, NC_000014.8:g.65426579_65426590del, NC_000014.8:g.65426580_65426590del, NC_000014.8:g.65426581_65426590del, NC_000014.8:g.65426582_65426590del, NC_000014.8:g.65426583_65426590del, NC_000014.8:g.65426584_65426590del, NC_000014.8:g.65426585_65426590del, NC_000014.8:g.65426586_65426590del, NC_000014.8:g.65426587_65426590del, NC_000014.8:g.65426588_65426590del, NC_000014.8:g.65426589_65426590del, NC_000014.8:g.65426590del, NC_000014.8:g.65426590dup, NC_000014.8:g.65426589_65426590dup, NC_000014.8:g.65426588_65426590dup, NC_000014.8:g.65426587_65426590dup, NC_000014.8:g.65426586_65426590dup, NC_000014.8:g.65426585_65426590dup, NC_000014.8:g.65426584_65426590dup, NC_000014.8:g.65426583_65426590dup, NC_000014.8:g.65426590_65426591insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
6.
rs1491017913 has merged into rs58528844 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,AA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 14:64973520
(GRCh38)
14:65440238
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64973508:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:64973508:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:64973508:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:64973508:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000014.9:64973508:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000014.9:64973508:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000014.9:64973508:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000014.9:64973508:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64973508:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64973508:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000014.9:64973508:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- RAB15 (Varview), CHURC1-FNTB (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAAAAAA=0./0
(
ALFA)
AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA=0.0024/1
(NorthernSweden)
-=0.1779/891
(1000Genomes)
- HGVS:
NC_000014.9:g.64973520_64973526del, NC_000014.9:g.64973522_64973526del, NC_000014.9:g.64973524_64973526del, NC_000014.9:g.64973525_64973526del, NC_000014.9:g.64973526del, NC_000014.9:g.64973526dup, NC_000014.9:g.64973525_64973526dup, NC_000014.9:g.64973524_64973526dup, NC_000014.9:g.64973523_64973526dup, NC_000014.9:g.64973522_64973526dup, NC_000014.9:g.64973526_64973527insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000014.8:g.65440238_65440244del, NC_000014.8:g.65440240_65440244del, NC_000014.8:g.65440242_65440244del, NC_000014.8:g.65440243_65440244del, NC_000014.8:g.65440244del, NC_000014.8:g.65440244dup, NC_000014.8:g.65440243_65440244dup, NC_000014.8:g.65440242_65440244dup, NC_000014.8:g.65440241_65440244dup, NC_000014.8:g.65440240_65440244dup, NC_000014.8:g.65440244_65440245insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
7.
rs1490903734 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:64955502
(GRCh38)
14:65422220
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64955501:T:C
- Gene:
- RAB15 (Varview), CHURC1-FNTB (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS:
8.
rs1490764848 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 14:64953135
(GRCh38)
14:65419853
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64953134:G:A,NC_000014.9:64953134:G:C
- Gene:
- RAB15 (Varview), CHURC1-FNTB (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000162/3
(
ALFA)
C=0.000035/1
(TOMMO)
A=0.000049/13
(TOPMED)
A=0.000071/10
(GnomAD)
A=0.000446/2
(Estonian)
- HGVS:
9.
rs1490665837 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 14:64969992
(GRCh38)
14:65436710
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64969991:G:A
- Gene:
- RAB15 (Varview), CHURC1-FNTB (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000066/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
A=0.000223/1
(Estonian)
- HGVS:
11.
rs1490554449 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:64967983
(GRCh38)
14:65434701
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64967982:A:G
- Gene:
- RAB15 (Varview), CHURC1-FNTB (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
12.
rs1490391614 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 14:64967411
(GRCh38)
14:65434130
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64967411:CCCC:CCCCC
- Gene:
- RAB15 (Varview), CHURC1-FNTB (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCC=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000008/2
(TOPMED)
- HGVS:
13.
rs1490383523 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:64950741
(GRCh38)
14:65417459
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64950740:A:G
- Gene:
- RAB15 (Varview), CHURC1-FNTB (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000011/3
(TOPMED)
- HGVS:
14.
rs1490357989 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 14:64951826
(GRCh38)
14:65418544
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64951825:C:T
- Gene:
- RAB15 (Varview), CHURC1-FNTB (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
T=0.000014/2
(GnomAD)
- HGVS:
15.
rs1490320267 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:64949424
(GRCh38)
14:65416142
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64949423:A:G
- Gene:
- RAB15 (Varview), CHURC1-FNTB (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.001342/6
(
ALFA)
G=0.000021/3
(GnomAD)
G=0.001339/6
(Estonian)
- HGVS:
16.
rs1490266716 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 14:64945578
(GRCh38)
14:65412296
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64945577:T:G
- Gene:
- RAB15 (Varview), CHURC1-FNTB (Varview)
- Functional Consequence:
- intron_variant,500B_downstream_variant,downstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0./0
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
17.
rs1490166421 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 14:64953904
(GRCh38)
14:65420622
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64953903:A:G
- Gene:
- RAB15 (Varview), CHURC1-FNTB (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
18.
rs1490157205 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:64968996
(GRCh38)
14:65435714
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64968995:T:C
- Gene:
- RAB15 (Varview), CHURC1-FNTB (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.000007/1
(GnomAD)
C=0.001667/1
(NorthernSweden)
- HGVS:
19.
rs1490062273 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 14:64968397
(GRCh38)
14:65435115
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64968396:T:C
- Gene:
- RAB15 (Varview), CHURC1-FNTB (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
- HGVS:
20.
rs1490043874 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 14:64967005
(GRCh38)
14:65433723
(GRCh37)
- Canonical SPDI:
- NC_000014.9:64967004:G:C
- Gene:
- RAB15 (Varview), CHURC1-FNTB (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD)
- HGVS: