Links from Gene
Items: 1 to 20 of 3151
2.
rs1490763588 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:22039069
(GRCh38)
8:21896580
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22039068:C:T
- Gene:
- FGF17 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
- HGVS:
3.
rs1490623366 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:22047017
(GRCh38)
8:21904528
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22047016:G:A
- Gene:
- DMTN (Varview), FGF17 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0.000071/1
(
ALFA)
A=0.000008/1
(GnomAD)
- HGVS:
4.
rs1490611263 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:22044340
(GRCh38)
8:21901851
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22044339:G:A
- Gene:
- FGF17 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000023/6
(TOPMED)
A=0.001667/1
(NorthernSweden)
- HGVS:
6.
rs1490033943 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:22046252
(GRCh38)
8:21903763
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22046251:C:T
- Gene:
- FGF17 (Varview)
- Functional Consequence:
- missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
T=0.000008/2
(GnomAD_exomes)
- HGVS:
NC_000008.11:g.22046252C>T, NC_000008.10:g.21903763C>T, NG_033889.1:g.8336C>T, NM_003867.4:c.211C>T, NM_003867.3:c.211C>T, NM_003867.2:c.211C>T, NM_001304478.1:c.178C>T, XM_011544683.2:c.259C>T, XM_011544683.1:c.259C>T, XM_011544685.2:c.226C>T, XM_011544685.1:c.226C>T, XM_005273675.2:c.280C>T, XM_005273675.1:c.280C>T, XM_011544684.2:c.259C>T, XM_011544684.1:c.259C>T, NP_003858.1:p.Arg71Cys, NP_001291407.1:p.Arg60Cys, XP_011542985.1:p.Arg87Cys, XP_011542987.1:p.Arg76Cys, XP_005273732.1:p.Arg94Cys, XP_011542986.1:p.Arg87Cys
7.
rs1489941162 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:22043313
(GRCh38)
8:21900824
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22043312:G:A
- Gene:
- FGF17 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000011/3
(TOPMED)
- HGVS:
8.
rs1489831778 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:22048896
(GRCh38)
8:21906407
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22048895:C:T
- Gene:
- DMTN (Varview), FGF17 (Varview)
- Functional Consequence:
- 500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
9.
rs1489184705 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:22044302
(GRCh38)
8:21901813
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22044301:A:G
- Gene:
- FGF17 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.00003/8
(TOPMED)
G=0.000043/6
(GnomAD)
- HGVS:
10.
rs1489078054 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 8:22039466
(GRCh38)
8:21896977
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22039465:T:C
- Gene:
- FGF17 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
11.
rs1488937506 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 8:22047257
(GRCh38)
8:21904768
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22047256:A:G
- Gene:
- DMTN (Varview), FGF17 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
12.
rs1488647491 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:22047914
(GRCh38)
8:21905425
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22047913:G:A
- Gene:
- DMTN (Varview), FGF17 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
13.
rs1488384137 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 8:22037934
(GRCh38)
8:21895445
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22037933:G:T
- Gene:
- FGF17 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000342/1
(KOREAN)
- HGVS:
14.
rs1488187690 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 8:22049199
(GRCh38)
8:21906710
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22049198:C:A,NC_000008.11:22049198:C:G,NC_000008.11:22049198:C:T
- Gene:
- DMTN (Varview), FGF17 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,5_prime_UTR_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
T=0.000156/1
(1000Genomes)
A=0.000193/51
(TOPMED)
- HGVS:
NC_000008.11:g.22049199C>A, NC_000008.11:g.22049199C>G, NC_000008.11:g.22049199C>T, NC_000008.10:g.21906710C>A, NC_000008.10:g.21906710C>G, NC_000008.10:g.21906710C>T, NG_033889.1:g.11283C>A, NG_033889.1:g.11283C>G, NG_033889.1:g.11283C>T, NM_001323397.2:c.-197C>A, NM_001323397.2:c.-197C>G, NM_001323397.2:c.-197C>T, NM_001323397.1:c.-197C>A, NM_001323397.1:c.-197C>G, NM_001323397.1:c.-197C>T, NM_001323382.2:c.-64C>A, NM_001323382.2:c.-64C>G, NM_001323382.2:c.-64C>T, NM_001323382.1:c.-64C>A, NM_001323382.1:c.-64C>G, NM_001323382.1:c.-64C>T, NM_001387727.1:c.-197C>A, NM_001387727.1:c.-197C>G, NM_001387727.1:c.-197C>T, NM_001387726.1:c.-197C>A, NM_001387726.1:c.-197C>G, NM_001387726.1:c.-197C>T, NM_001387723.1:c.-64C>A, NM_001387723.1:c.-64C>G, NM_001387723.1:c.-64C>T
15.
rs1488099695 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 8:22040604
(GRCh38)
8:21898115
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22040603:C:G
- Gene:
- FGF17 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000008/2
(TOPMED)
- HGVS:
16.
rs1487562425 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 8:22044497
(GRCh38)
8:21902008
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22044496:C:G,NC_000008.11:22044496:C:T
- Gene:
- FGF17 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.00006/4
(GnomAD)
G=0.00927/27
(KOREAN)
- HGVS:
17.
rs1487376808 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:22048408
(GRCh38)
8:21905919
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22048407:C:T
- Gene:
- DMTN (Varview), FGF17 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000023/6
(TOPMED)
T=0.000036/5
(GnomAD)
- HGVS:
NC_000008.11:g.22048408C>T, NC_000008.10:g.21905919C>T, NG_033889.1:g.10492C>T, NM_003867.4:c.*159C>T, NM_003867.3:c.*159C>T, NM_003867.2:c.*159C>T, NM_001304478.1:c.*159C>T, XM_011544683.2:c.*159C>T, XM_011544683.1:c.*159C>T, XM_011544685.2:c.*159C>T, XM_011544685.1:c.*159C>T, XM_005273675.2:c.*159C>T, XM_005273675.1:c.*159C>T, XM_011544684.2:c.*159C>T, XM_011544684.1:c.*159C>T
18.
rs1487277204 has merged into rs3038873 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 8:22046961
(GRCh38)
8:21904472
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000008.11:22046950:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- DMTN (Varview), FGF17 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000008.11:g.22046961_22046967del, NC_000008.11:g.22046962_22046967del, NC_000008.11:g.22046963_22046967del, NC_000008.11:g.22046964_22046967del, NC_000008.11:g.22046965_22046967del, NC_000008.11:g.22046966_22046967del, NC_000008.11:g.22046967del, NC_000008.11:g.22046967dup, NC_000008.11:g.22046966_22046967dup, NC_000008.11:g.22046965_22046967dup, NC_000008.11:g.22046964_22046967dup, NC_000008.11:g.22046963_22046967dup, NC_000008.11:g.22046962_22046967dup, NC_000008.11:g.22046961_22046967dup, NC_000008.11:g.22046960_22046967dup, NC_000008.11:g.22046959_22046967dup, NC_000008.11:g.22046958_22046967dup, NC_000008.11:g.22046957_22046967dup, NC_000008.11:g.22046956_22046967dup, NC_000008.11:g.22046955_22046967dup, NC_000008.11:g.22046954_22046967dup, NC_000008.11:g.22046953_22046967dup, NC_000008.11:g.22046952_22046967dup, NC_000008.11:g.22046951_22046967dup, NC_000008.11:g.22046967_22046968insTTTTTTTTTTTTTTTTTT, NC_000008.11:g.22046967_22046968insTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.22046967_22046968insTTTTTTTTTTTTTTTTTTTT, NC_000008.11:g.22046967_22046968insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.21904472_21904478del, NC_000008.10:g.21904473_21904478del, NC_000008.10:g.21904474_21904478del, NC_000008.10:g.21904475_21904478del, NC_000008.10:g.21904476_21904478del, NC_000008.10:g.21904477_21904478del, NC_000008.10:g.21904478del, NC_000008.10:g.21904478dup, NC_000008.10:g.21904477_21904478dup, NC_000008.10:g.21904476_21904478dup, NC_000008.10:g.21904475_21904478dup, NC_000008.10:g.21904474_21904478dup, NC_000008.10:g.21904473_21904478dup, NC_000008.10:g.21904472_21904478dup, NC_000008.10:g.21904471_21904478dup, NC_000008.10:g.21904470_21904478dup, NC_000008.10:g.21904469_21904478dup, NC_000008.10:g.21904468_21904478dup, NC_000008.10:g.21904467_21904478dup, NC_000008.10:g.21904466_21904478dup, NC_000008.10:g.21904465_21904478dup, NC_000008.10:g.21904464_21904478dup, NC_000008.10:g.21904463_21904478dup, NC_000008.10:g.21904462_21904478dup, NC_000008.10:g.21904478_21904479insTTTTTTTTTTTTTTTTTT, NC_000008.10:g.21904478_21904479insTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.21904478_21904479insTTTTTTTTTTTTTTTTTTTT, NC_000008.10:g.21904478_21904479insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_033889.1:g.9045_9051del, NG_033889.1:g.9046_9051del, NG_033889.1:g.9047_9051del, NG_033889.1:g.9048_9051del, NG_033889.1:g.9049_9051del, NG_033889.1:g.9050_9051del, NG_033889.1:g.9051del, NG_033889.1:g.9051dup, NG_033889.1:g.9050_9051dup, NG_033889.1:g.9049_9051dup, NG_033889.1:g.9048_9051dup, NG_033889.1:g.9047_9051dup, NG_033889.1:g.9046_9051dup, NG_033889.1:g.9045_9051dup, NG_033889.1:g.9044_9051dup, NG_033889.1:g.9043_9051dup, NG_033889.1:g.9042_9051dup, NG_033889.1:g.9041_9051dup, NG_033889.1:g.9040_9051dup, NG_033889.1:g.9039_9051dup, NG_033889.1:g.9038_9051dup, NG_033889.1:g.9037_9051dup, NG_033889.1:g.9036_9051dup, NG_033889.1:g.9035_9051dup, NG_033889.1:g.9051_9052insTTTTTTTTTTTTTTTTTT, NG_033889.1:g.9051_9052insTTTTTTTTTTTTTTTTTTT, NG_033889.1:g.9051_9052insTTTTTTTTTTTTTTTTTTTT, NG_033889.1:g.9051_9052insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
19.
rs1487227128 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 8:22043048
(GRCh38)
8:21900559
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22043047:G:A
- Gene:
- FGF17 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1487140055 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 8:22044149
(GRCh38)
8:21901660
(GRCh37)
- Canonical SPDI:
- NC_000008.11:22044148:C:T
- Gene:
- FGF17 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS: