Links from Nucleotide
Items: 1 to 20 of 2282
1.
rs1491544612 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TC>-
[Show Flanks]
- Chromosome:
- 9:35657948
(GRCh38)
9:35657945
(GRCh37)
- Canonical SPDI:
- NC_000009.12:35657947:TC:
- Gene:
- RMRP (Varview), CCDC107 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Clinical significance:
- uncertain-significance
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.000071/1
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000008/2
(TOPMED)
- HGVS:
2.
rs1491004119 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 9:35661188
(GRCh38)
9:35661186
(GRCh37)
- Canonical SPDI:
- NC_000009.12:35661188:GG:GGG
- Gene:
- ARHGEF39 (Varview), CCDC107 (Varview)
- Functional Consequence:
- downstream_transcript_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa
- MAF:
GGG=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
NC_000009.12:g.35661190dup, NC_000009.11:g.35661187dup, NG_033120.1:g.7901dup, NM_174923.3:c.*3dup, NM_174923.2:c.*3dup, NM_001195217.2:c.*407dup, NM_001195217.1:c.*407dup, NM_001195200.2:c.*3dup, NM_001195200.1:c.*3dup, NM_001195201.2:c.*286dup, NM_001195201.1:c.*286dup, NG_017041.1:g.1830dup, NM_032818.3:c.*798dup, NM_032818.2:c.*798dup
3.
rs1490931944 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:35658344
(GRCh38)
9:35658341
(GRCh37)
- Canonical SPDI:
- NC_000009.12:35658343:C:T
- Gene:
- RMRP (Varview), CCDC107 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.00004/1
(GnomAD_exomes)
T=0.000344/1
(KOREAN)
- HGVS:
NC_000009.12:g.35658344C>T, NC_000009.11:g.35658341C>T, NG_033120.1:g.5055C>T, NM_174923.3:c.-36C>T, NM_174923.2:c.-36C>T, NM_001195217.2:c.-36C>T, NM_001195217.1:c.-36C>T, NM_001195200.2:c.-36C>T, NM_001195200.1:c.-36C>T, NM_001195201.2:c.-36C>T, NM_001195201.1:c.-36C>T, NG_017041.1:g.4675G>A, XM_005251403.6:c.-36C>T, XM_005251403.5:c.-36C>T, XM_005251403.4:c.-36C>T, XM_005251403.3:c.-36C>T, XM_005251403.2:c.-36C>T, XM_005251403.1:c.-36C>T
4.
rs1490045367 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:35658349
(GRCh38)
9:35658346
(GRCh37)
- Canonical SPDI:
- NC_000009.12:35658348:C:T
- Gene:
- RMRP (Varview), CCDC107 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
T=0.00003/1
(GnomAD_exomes)
- HGVS:
NC_000009.12:g.35658349C>T, NC_000009.11:g.35658346C>T, NG_033120.1:g.5060C>T, NM_174923.3:c.-31C>T, NM_174923.2:c.-31C>T, NM_001195217.2:c.-31C>T, NM_001195217.1:c.-31C>T, NM_001195200.2:c.-31C>T, NM_001195200.1:c.-31C>T, NM_001195201.2:c.-31C>T, NM_001195201.1:c.-31C>T, NG_017041.1:g.4670G>A, XM_005251403.6:c.-31C>T, XM_005251403.5:c.-31C>T, XM_005251403.4:c.-31C>T, XM_005251403.3:c.-31C>T, XM_005251403.2:c.-31C>T, XM_005251403.1:c.-31C>T
5.
rs1489880552 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:35658586
(GRCh38)
9:35658583
(GRCh37)
- Canonical SPDI:
- NC_000009.12:35658585:C:T
- Gene:
- RMRP (Varview), CCDC107 (Varview)
- Functional Consequence:
- coding_sequence_variant,upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
- Validated:
- by frequency
- MAF:
T=0.000005/1
(GnomAD_exomes)
- HGVS:
NC_000009.12:g.35658586C>T, NC_000009.11:g.35658583C>T, NG_033120.1:g.5297C>T, NM_174923.3:c.117C>T, NM_174923.2:c.117C>T, NM_001195217.2:c.117C>T, NM_001195217.1:c.117C>T, NM_001195200.2:c.117C>T, NM_001195200.1:c.117C>T, NM_001195201.2:c.117C>T, NM_001195201.1:c.117C>T, NG_017041.1:g.4433G>A, XM_005251403.6:c.117C>T, XM_005251403.5:c.117C>T, XM_005251403.4:c.117C>T, XM_005251403.3:c.117C>T, XM_005251403.2:c.117C>T, XM_005251403.1:c.117C>T
6.
rs1489802482 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 9:35657931
(GRCh38)
9:35657929
(GRCh37)
- Canonical SPDI:
- NC_000009.12:35657931::T
- Gene:
- RMRP (Varview), CCDC107 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
7.
rs1489713931 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:35660175
(GRCh38)
9:35660172
(GRCh37)
- Canonical SPDI:
- NC_000009.12:35660174:G:A
- Gene:
- ARHGEF39 (Varview), CCDC107 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
8.
rs1489271240 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 9:35655867
(GRCh38)
9:35655864
(GRCh37)
- Canonical SPDI:
- NC_000009.12:35655866:G:T
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
9.
rs1489266759 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:35659844
(GRCh38)
9:35659841
(GRCh37)
- Canonical SPDI:
- NC_000009.12:35659843:C:T
- Gene:
- RMRP (Varview), ARHGEF39 (Varview), CCDC107 (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,3_prime_UTR_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000019/5
(TOPMED)
- HGVS:
10.
rs1488804524 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 9:35657812
(GRCh38)
9:35657809
(GRCh37)
- Canonical SPDI:
- NC_000009.12:35657811:T:A,NC_000009.12:35657811:T:C
- Gene:
- RMRP (Varview), CCDC107 (Varview)
- Functional Consequence:
- upstream_transcript_variant,non_coding_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by cluster
- MAF:
C=0.00004/1
(TOMMO)
- HGVS:
11.
rs1488790351 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:35662763
(GRCh38)
9:35662760
(GRCh37)
- Canonical SPDI:
- NC_000009.12:35662762:A:G
- Gene:
- ARHGEF39 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000007/1
(GnomAD_exomes)
- HGVS:
12.
rs1488460737 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:35655978
(GRCh38)
9:35655975
(GRCh37)
- Canonical SPDI:
- NC_000009.12:35655977:G:A
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
13.
rs1488359326 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A
[Show Flanks]
- Chromosome:
- 9:35657159
(GRCh38)
9:35657156
(GRCh37)
- Canonical SPDI:
- NC_000009.12:35657158:T:A
- Gene:
- CCDC107 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000084/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
14.
rs1488131769 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:35656508
(GRCh38)
9:35656505
(GRCh37)
- Canonical SPDI:
- NC_000009.12:35656507:C:T
- Gene:
- CCDC107 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
15.
rs1487827959 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 9:35662157
(GRCh38)
9:35662154
(GRCh37)
- Canonical SPDI:
- NC_000009.12:35662156:CC:C
- Gene:
- ARHGEF39 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CC=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
16.
rs1487379669 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:35656159
(GRCh38)
9:35656156
(GRCh37)
- Canonical SPDI:
- NC_000009.12:35656158:C:T
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
- HGVS:
17.
rs1486670186 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 9:35658244
(GRCh38)
9:35658241
(GRCh37)
- Canonical SPDI:
- NC_000009.12:35658243:C:T
- Gene:
- RMRP (Varview), CCDC107 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000008/2
(TOPMED)
T=0.000035/1
(TOMMO)
- HGVS:
18.
rs1486245077 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:35662865
(GRCh38)
9:35662862
(GRCh37)
- Canonical SPDI:
- NC_000009.12:35662864:A:G
- Gene:
- ARHGEF39 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0.0002/1
(
ALFA)
G=0.0002/1
(Estonian)
- HGVS:
19.
rs1485949108 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 9:35658253
(GRCh38)
9:35658250
(GRCh37)
- Canonical SPDI:
- NC_000009.12:35658252:A:G
- Gene:
- RMRP (Varview), CCDC107 (Varview)
- Functional Consequence:
- upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
20.
rs1485780282 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 9:35657509
(GRCh38)
9:35657506
(GRCh37)
- Canonical SPDI:
- NC_000009.12:35657508:G:A
- Gene:
- RMRP (Varview), CCDC107 (Varview)
- Functional Consequence:
- 500B_downstream_variant,downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS: