Links from Gene
Items: 1 to 20 of 1000
1.
rs1490946179 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:67236745
(GRCh38)
16:67270648
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67236744:G:A
- Gene:
- FHOD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
2.
rs1490899102 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 16:67236463
(GRCh38)
16:67270366
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67236462:T:C
- Gene:
- FHOD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
C=0.000007/1
(GnomAD_exomes)
- HGVS:
3.
rs1490871818 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 16:67237221
(GRCh38)
16:67271124
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67237220:G:C
- Gene:
- FHOD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000016/4
(GnomAD_exomes)
- HGVS:
4.
rs1490407829 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 16:67246548
(GRCh38)
16:67280451
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67246547:C:A,NC_000016.10:67246547:C:T
- Gene:
- FHOD1 (Varview)
- Functional Consequence:
- upstream_transcript_variant,5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000015/4
(TOPMED)
- HGVS:
NC_000016.10:g.67246548C>A, NC_000016.10:g.67246548C>T, NC_000016.9:g.67280451C>A, NC_000016.9:g.67280451C>T, NG_029672.1:g.5975G>T, NG_029672.1:g.5975G>A, XM_011523043.3:c.-110G>T, XM_011523043.3:c.-110G>A, XM_011523043.2:c.-110G>T, XM_011523043.2:c.-110G>A, XM_011523043.1:c.-110G>T, XM_011523043.1:c.-110G>A, XM_047434002.1:c.-931G>T, XM_047434002.1:c.-931G>A, XM_047433999.1:c.-110G>T, XM_047433999.1:c.-110G>A
5.
rs1490237003 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 16:67241987
(GRCh38)
16:67275890
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67241986:G:A,NC_000016.10:67241986:G:T
- Gene:
- FHOD1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.001296/24
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
6.
rs1490201326 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 16:67235501
(GRCh38)
16:67269404
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67235500:G:A,NC_000016.10:67235500:G:T
- Gene:
- FHOD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
A=0.000015/2
(GnomAD)
- HGVS:
9.
rs1489934001 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,T
[Show Flanks]
- Chromosome:
- 16:67245042
(GRCh38)
16:67278945
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67245041:C:A,NC_000016.10:67245041:C:T
- Gene:
- FHOD1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
10.
rs1489919722 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:67246170
(GRCh38)
16:67280073
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67246169:G:A
- Gene:
- FHOD1 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000008/2
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
11.
rs1489916221 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 16:67241413
(GRCh38)
16:67275316
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67241412:C:G,NC_000016.10:67241412:C:T
- Gene:
- FHOD1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000021/3
(GnomAD)
T=0.000156/1
(1000Genomes)
T=0.000546/1
(Korea1K)
T=0.001097/18
(TOMMO)
- HGVS:
12.
rs1489736973 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:67232005
(GRCh38)
16:67265908
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67232004:C:T
- Gene:
- FHOD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
T=0.000008/2
(GnomAD_exomes)
- HGVS:
13.
rs1489547480 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GA>-
[Show Flanks]
- Chromosome:
- 16:67242908
(GRCh38)
16:67276811
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67242906:AGA:A
- Gene:
- FHOD1 (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
15.
rs1489516293 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:67245614
(GRCh38)
16:67279517
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67245613:G:A
- Gene:
- FHOD1 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000054/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000223/1
(Estonian)
- HGVS:
16.
rs1489331497 has merged into rs940547381 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-,CC
[Show Flanks]
- Chromosome:
- 16:67244062
(GRCh38)
16:67277965
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67244061:CCCC:CCC,NC_000016.10:67244061:CCCC:CCCCC
- Gene:
- FHOD1 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCC=0./0
(
ALFA)
-=0./0
(GnomAD)
- HGVS:
17.
rs1489243436 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 16:67234240
(GRCh38)
16:67268143
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67234239:T:C
- Gene:
- FHOD1 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000066/1
(
ALFA)
C=0.000007/1
(GnomAD)
C=0.000223/1
(Estonian)
- HGVS:
NC_000016.10:g.67234240T>C, NC_000016.9:g.67268143T>C, NG_029672.1:g.18283A>G, NM_013241.3:c.1463A>G, NM_013241.2:c.1463A>G, NM_001318202.2:c.1541A>G, NM_001318202.1:c.1541A>G, XM_011523043.3:c.1511A>G, XM_011523043.2:c.1511A>G, XM_011523043.1:c.1511A>G, XM_011523044.2:c.1541A>G, XM_011523044.1:c.1541A>G, XM_047434002.1:c.1184A>G, XM_047433999.1:c.1433A>G, XM_047434001.1:c.1184A>G, XM_047434000.1:c.1463A>G, XM_047434003.1:c.902A>G, XM_047434004.1:c.1541A>G, XM_047434005.1:c.1541A>G, NP_037373.2:p.Glu488Gly, NP_001305131.1:p.Glu514Gly, XP_011521345.1:p.Glu504Gly, XP_011521346.1:p.Glu514Gly, XP_047289958.1:p.Glu395Gly, XP_047289955.1:p.Glu478Gly, XP_047289957.1:p.Glu395Gly, XP_047289956.1:p.Glu488Gly, XP_047289959.1:p.Glu301Gly, XP_047289960.1:p.Glu514Gly, XP_047289961.1:p.Glu514Gly
18.
rs1489151450 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:67235512
(GRCh38)
16:67269415
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67235511:C:T
- Gene:
- FHOD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000023/3
(GnomAD)
T=0.000038/10
(TOPMED)
- HGVS:
19.
rs1489102072 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 16:67237531
(GRCh38)
16:67271434
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67237530:C:T
- Gene:
- FHOD1 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant
- Validated:
- by frequency,by cluster
- MAF:
T=0.000004/1
(GnomAD_exomes)
T=0.000071/1
(TOMMO)
- HGVS:
NC_000016.10:g.67237531C>T, NC_000016.9:g.67271434C>T, NG_029672.1:g.14992G>A, NM_013241.3:c.793G>A, NM_013241.2:c.793G>A, NM_001318202.2:c.793G>A, NM_001318202.1:c.793G>A, XM_011523043.3:c.763G>A, XM_011523043.2:c.763G>A, XM_011523043.1:c.763G>A, XM_011523044.2:c.793G>A, XM_011523044.1:c.793G>A, XM_047434002.1:c.514G>A, XM_047433999.1:c.763G>A, XM_047434001.1:c.514G>A, XM_047434000.1:c.793G>A, XM_047434003.1:c.232G>A, XM_047434004.1:c.793G>A, XM_047434005.1:c.793G>A, NP_037373.2:p.Glu265Lys, NP_001305131.1:p.Glu265Lys, XP_011521345.1:p.Glu255Lys, XP_011521346.1:p.Glu265Lys, XP_047289958.1:p.Glu172Lys, XP_047289955.1:p.Glu255Lys, XP_047289957.1:p.Glu172Lys, XP_047289956.1:p.Glu265Lys, XP_047289959.1:p.Glu78Lys, XP_047289960.1:p.Glu265Lys, XP_047289961.1:p.Glu265Lys
20.
rs1488853456 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 16:67235428
(GRCh38)
16:67269331
(GRCh37)
- Canonical SPDI:
- NC_000016.10:67235427:G:A
- Gene:
- FHOD1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000021/3
(GnomAD)
A=0.00003/8
(TOPMED)
- HGVS: