Links from Nucleotide
Items: 1 to 20 of 785
1.
rs1491583487 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CT
[Show Flanks]
- Chromosome:
- 17:42753914
(GRCh38)
17:40905933
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42753914:T:TCT
- Gene:
- RAMP2-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TCT=0./0
(
ALFA)
TC=0.000008/1
(GnomAD)
TC=0.000008/2
(TOPMED)
- HGVS:
2.
rs1491441469 has merged into rs779187369 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 17:42753923
(GRCh38)
17:40905941
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:42753913:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- RAMP2-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTT=0./0
(
ALFA)
-=0.000106/28
(TOPMED)
T=0.425/17
(GENOME_DK)
- HGVS:
NC_000017.11:g.42753923_42753930del, NC_000017.11:g.42753924_42753930del, NC_000017.11:g.42753925_42753930del, NC_000017.11:g.42753927_42753930del, NC_000017.11:g.42753928_42753930del, NC_000017.11:g.42753929_42753930del, NC_000017.11:g.42753930del, NC_000017.11:g.42753930dup, NC_000017.11:g.42753929_42753930dup, NC_000017.11:g.42753928_42753930dup, NC_000017.11:g.42753927_42753930dup, NC_000017.11:g.42753926_42753930dup, NC_000017.11:g.42753925_42753930dup, NC_000017.11:g.42753923_42753930dup, NC_000017.11:g.42753922_42753930dup, NC_000017.10:g.40905941_40905948del, NC_000017.10:g.40905942_40905948del, NC_000017.10:g.40905943_40905948del, NC_000017.10:g.40905945_40905948del, NC_000017.10:g.40905946_40905948del, NC_000017.10:g.40905947_40905948del, NC_000017.10:g.40905948del, NC_000017.10:g.40905948dup, NC_000017.10:g.40905947_40905948dup, NC_000017.10:g.40905946_40905948dup, NC_000017.10:g.40905945_40905948dup, NC_000017.10:g.40905944_40905948dup, NC_000017.10:g.40905943_40905948dup, NC_000017.10:g.40905941_40905948dup, NC_000017.10:g.40905940_40905948dup, NG_028969.1:g.86_93del, NG_028969.1:g.87_93del, NG_028969.1:g.88_93del, NG_028969.1:g.90_93del, NG_028969.1:g.91_93del, NG_028969.1:g.92_93del, NG_028969.1:g.93del, NG_028969.1:g.93dup, NG_028969.1:g.92_93dup, NG_028969.1:g.91_93dup, NG_028969.1:g.90_93dup, NG_028969.1:g.89_93dup, NG_028969.1:g.88_93dup, NG_028969.1:g.86_93dup, NG_028969.1:g.85_93dup, NR_024461.1:n.3265_3272del, NR_024461.1:n.3266_3272del, NR_024461.1:n.3267_3272del, NR_024461.1:n.3269_3272del, NR_024461.1:n.3270_3272del, NR_024461.1:n.3271_3272del, NR_024461.1:n.3272del, NR_024461.1:n.3272dup, NR_024461.1:n.3271_3272dup, NR_024461.1:n.3270_3272dup, NR_024461.1:n.3269_3272dup, NR_024461.1:n.3268_3272dup, NR_024461.1:n.3267_3272dup, NR_024461.1:n.3265_3272dup, NR_024461.1:n.3264_3272dup, NR_024462.1:n.1689_1696del, NR_024462.1:n.1690_1696del, NR_024462.1:n.1691_1696del, NR_024462.1:n.1693_1696del, NR_024462.1:n.1694_1696del, NR_024462.1:n.1695_1696del, NR_024462.1:n.1696del, NR_024462.1:n.1696dup, NR_024462.1:n.1695_1696dup, NR_024462.1:n.1694_1696dup, NR_024462.1:n.1693_1696dup, NR_024462.1:n.1692_1696dup, NR_024462.1:n.1691_1696dup, NR_024462.1:n.1689_1696dup, NR_024462.1:n.1688_1696dup
3.
rs1490029341 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:42759859
(GRCh38)
17:40911877
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42759858:G:A
- Gene:
- RAMP2 (Varview), RAMP2-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000015/4
(TOPMED)
A=0.000043/6
(GnomAD_exomes)
- HGVS:
4.
rs1486996275 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:42761236
(GRCh38)
17:40913254
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42761235:G:A
- Gene:
- RAMP2 (Varview), RAMP2-AS1 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
5.
rs1486755233 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 17:42754255
(GRCh38)
17:40906273
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42754254:G:T
- Gene:
- RAMP2-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
6.
rs1486211531 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:42754780
(GRCh38)
17:40906798
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42754779:C:T
- Gene:
- RAMP2-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
8.
rs1485264066 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 17:42756287
(GRCh38)
17:40908305
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42756286:G:C
- Gene:
- RAMP2-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
9.
rs1484991547 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- G>-
[Show Flanks]
- Chromosome:
- 17:42753931
(GRCh38)
17:40905949
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42753930:G:
- Gene:
- RAMP2-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000073/10
(GnomAD)
- HGVS:
10.
rs1484178297 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 17:42760492
(GRCh38)
17:40912510
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42760491:G:A,NC_000017.11:42760491:G:C
- Gene:
- RAMP2 (Varview), RAMP2-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD_exomes)
- HGVS:
11.
rs1482324053 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:42756116
(GRCh38)
17:40908134
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42756115:A:G
- Gene:
- RAMP2-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,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:
12.
rs1480190820 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 17:42756279
(GRCh38)
17:40908297
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42756278:A:G
- Gene:
- RAMP2-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000019/5
(TOPMED)
- HGVS:
13.
rs1480060139 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 17:42761240
(GRCh38)
17:40913258
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42761239:C:G,NC_000017.11:42761239:C:T
- Gene:
- RAMP2 (Varview), RAMP2-AS1 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
G=0.000014/1
(GnomAD_exomes)
- HGVS:
NC_000017.11:g.42761240C>G, NC_000017.11:g.42761240C>T, NC_000017.10:g.40913258C>G, NC_000017.10:g.40913258C>T, NM_005854.3:c.-22C>G, NM_005854.3:c.-22C>T, NM_005854.2:c.-22C>G, NM_005854.2:c.-22C>T, NR_024461.1:n.18G>C, NR_024461.1:n.18G>A, NR_024462.1:n.18G>C, NR_024462.1:n.18G>A
14.
rs1479824345 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:42759804
(GRCh38)
17:40911822
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42759803:G:A
- Gene:
- RAMP2 (Varview), RAMP2-AS1 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,non_coding_transcript_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000094/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000007/1
(GnomAD_exomes)
A=0.000008/2
(TOPMED)
- HGVS:
15.
rs1479204207 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 17:42755864
(GRCh38)
17:40907882
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42755863:C:T
- Gene:
- RAMP2-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
16.
rs1477802368 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C,G
[Show Flanks]
- Chromosome:
- 17:42756098
(GRCh38)
17:40908116
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42756097:A:C,NC_000017.11:42756097:A:G
- Gene:
- RAMP2-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
C=0.002183/4
(Korea1K)
- HGVS:
17.
rs1477764762 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 17:42754336
(GRCh38)
17:40906354
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42754335:G:C
- Gene:
- RAMP2-AS1 (Varview)
- Functional Consequence:
- non_coding_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:
18.
rs1477727928 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:42755073
(GRCh38)
17:40907091
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42755072:G:A
- Gene:
- RAMP2-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
19.
rs1475954786 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 17:42755669
(GRCh38)
17:40907687
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42755668:G:A
- Gene:
- RAMP2-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
- HGVS:
20.
rs1475907651 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 17:42754922
(GRCh38)
17:40906940
(GRCh37)
- Canonical SPDI:
- NC_000017.11:42754921:T:C
- Gene:
- RAMP2-AS1 (Varview)
- Functional Consequence:
- non_coding_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000021/3
(GnomAD)
C=0.000023/6
(TOPMED)
- HGVS: