Links from Nucleotide
Items: 1 to 20 of 10642
1.
rs1491489154 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CTT>-,CTTCTT
[Show Flanks]
- Chromosome:
- 11:117858671
(GRCh38)
11:117729386
(GRCh37)
- Canonical SPDI:
- NC_000011.10:117858668:TTCTT:TT,NC_000011.10:117858668:TTCTT:TTCTTCTT
- Gene:
- FXYD6 (Varview), FXYD6-FXYD2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TTCTTCTT=0./0
(
ALFA)
-=0.00001/1
(GnomAD)
- HGVS:
2.
rs1491478410 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->CCTC
[Show Flanks]
- Chromosome:
- 11:117851294
(GRCh38)
11:117722010
(GRCh37)
- Canonical SPDI:
- NC_000011.10:117851294:CTCCCTCCCTC:CTCCCTCCCTCCCTC
- Gene:
- FXYD6 (Varview), FXYD6-FXYD2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CTCCCTCCCTCCCTC=0./0
(
ALFA)
CTCC=0.000026/7
(TOPMED)
CTCC=0.000043/6
(GnomAD)
- HGVS:
3.
rs1491430199 has merged into rs1300616532 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-,TTT
[Show Flanks]
- Chromosome:
- 11:117858669
(GRCh38)
11:117729384
(GRCh37)
- Canonical SPDI:
- NC_000011.10:117858667:TTT:T,NC_000011.10:117858667:TTT:TTTT
- Gene:
- FXYD6 (Varview), FXYD6-FXYD2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTT=0./0
(
ALFA)
-=0.00019/15
(GnomAD)
- HGVS:
4.
rs1491331765 has merged into rs1402522860 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-,GG
[Show Flanks]
- Chromosome:
- 11:117866330
(GRCh38)
11:117737045
(GRCh37)
- Canonical SPDI:
- NC_000011.10:117866329:GGGGGGG:GGGGGG,NC_000011.10:117866329:GGGGGGG:GGGGGGGG
- Gene:
- FXYD6 (Varview), FXYD6-FXYD2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGGG=0./0
(
ALFA)
-=0.000008/2
(TOPMED)
- HGVS:
5.
rs1491320826 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 11:117866329
(GRCh38)
11:117737044
(GRCh37)
- Canonical SPDI:
- NC_000011.10:117866328:TG:
- Gene:
- FXYD6 (Varview), FXYD6-FXYD2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000015/4
(TOPMED)
-=0.000021/3
(GnomAD)
- HGVS:
6.
rs1491301542 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 11:117845439
(GRCh38)
11:117716154
(GRCh37)
- Canonical SPDI:
- NC_000011.10:117845438:CT:
- Gene:
- FXYD6 (Varview), FXYD6-FXYD2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000021/3
(GnomAD)
-=0.000034/9
(TOPMED)
- HGVS:
7.
rs1491272566 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->TC
[Show Flanks]
- Chromosome:
- 11:117838040
(GRCh38)
11:117708756
(GRCh37)
- Canonical SPDI:
- NC_000011.10:117838040:TC:TCTC
- Gene:
- FXYD6 (Varview), FXYD6-FXYD2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TCTC=0.000061/1
(
ALFA)
TC=0.000008/1
(GnomAD)
- HGVS:
NC_000011.10:g.117838041_117838042dup, NC_000011.9:g.117708756_117708757dup, NG_013071.1:g.44389_44390dup, NM_022003.4:c.*257_*258dup, NM_022003.3:c.*257_*258dup, NM_001164836.3:c.*257_*258dup, NM_001164836.2:c.*257_*258dup, NM_001164832.3:c.*257_*258dup, NM_001164832.2:c.*257_*258dup, NM_001164837.3:c.*257_*258dup, NM_001164837.2:c.*257_*258dup, NM_001164831.3:c.*257_*258dup, NM_001164831.2:c.*257_*258dup
8.
rs1491249457 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 11:117858643
(GRCh38)
11:117729358
(GRCh37)
- Canonical SPDI:
- NC_000011.10:117858641:TCT:T
- Gene:
- FXYD6 (Varview), FXYD6-FXYD2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0.00025/3
(
ALFA)
-=0.00014/4
(GnomAD)
- HGVS:
9.
rs1491162401 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 11:117845439
(GRCh38)
11:117716155
(GRCh37)
- Canonical SPDI:
- NC_000011.10:117845439:TTTTTT:TTTTTTT
- Gene:
- FXYD6 (Varview), FXYD6-FXYD2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
TTTTTTT=0./0
(
ALFA)
T=0.000049/13
(TOPMED)
- HGVS:
10.
rs1491115053 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 11:117869689
(GRCh38)
11:117740405
(GRCh37)
- Canonical SPDI:
- NC_000011.10:117869689::G
- Gene:
- FXYD6 (Varview), FXYD6-FXYD2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
12.
rs1491045475 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->AT
[Show Flanks]
- Chromosome:
- 11:117838066
(GRCh38)
11:117708782
(GRCh37)
- Canonical SPDI:
- NC_000011.10:117838066:AT:ATAT
- Gene:
- FXYD6 (Varview), FXYD6-FXYD2 (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
ATAT=0./0
(
ALFA)
AT=0.000007/1
(GnomAD)
AT=0.000011/3
(TOPMED)
- HGVS:
NC_000011.10:g.117838067_117838068dup, NC_000011.9:g.117708782_117708783dup, NG_013071.1:g.44363_44364dup, NM_022003.4:c.*231_*232dup, NM_022003.3:c.*231_*232dup, NM_001164836.3:c.*231_*232dup, NM_001164836.2:c.*231_*232dup, NM_001164832.3:c.*231_*232dup, NM_001164832.2:c.*231_*232dup, NM_001164837.3:c.*231_*232dup, NM_001164837.2:c.*231_*232dup, NM_001164831.3:c.*231_*232dup, NM_001164831.2:c.*231_*232dup
13.
rs1491030241 has merged into rs66790457 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTT>-,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 11:117857423
(GRCh38)
11:117728138
(GRCh37)
- Canonical SPDI:
- NC_000011.10:117857410:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:117857410:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:117857410:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:117857410:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000011.10:117857410:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:117857410:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:117857410:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:117857410:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:117857410:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:117857410:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:117857410:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- FXYD6 (Varview), FXYD6-FXYD2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTTTTT=0./0
(
ALFA)
-=0.3578/1792
(1000Genomes)
- HGVS:
NC_000011.10:g.117857423_117857427del, NC_000011.10:g.117857426_117857427del, NC_000011.10:g.117857427del, NC_000011.10:g.117857427dup, NC_000011.10:g.117857426_117857427dup, NC_000011.10:g.117857425_117857427dup, NC_000011.10:g.117857424_117857427dup, NC_000011.10:g.117857423_117857427dup, NC_000011.10:g.117857422_117857427dup, NC_000011.10:g.117857420_117857427dup, NC_000011.10:g.117857418_117857427dup, NC_000011.9:g.117728138_117728142del, NC_000011.9:g.117728141_117728142del, NC_000011.9:g.117728142del, NC_000011.9:g.117728142dup, NC_000011.9:g.117728141_117728142dup, NC_000011.9:g.117728140_117728142dup, NC_000011.9:g.117728139_117728142dup, NC_000011.9:g.117728138_117728142dup, NC_000011.9:g.117728137_117728142dup, NC_000011.9:g.117728135_117728142dup, NC_000011.9:g.117728133_117728142dup, NG_013071.1:g.25016_25020del, NG_013071.1:g.25019_25020del, NG_013071.1:g.25020del, NG_013071.1:g.25020dup, NG_013071.1:g.25019_25020dup, NG_013071.1:g.25018_25020dup, NG_013071.1:g.25017_25020dup, NG_013071.1:g.25016_25020dup, NG_013071.1:g.25015_25020dup, NG_013071.1:g.25013_25020dup, NG_013071.1:g.25011_25020dup
14.
rs1491018816 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 11:117850676
(GRCh38)
11:117721392
(GRCh37)
- Canonical SPDI:
- NC_000011.10:117850676:GGGGGG:GGGGGGG
- Gene:
- FXYD6 (Varview), FXYD6-FXYD2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGGGG=0.000084/1
(
ALFA)
G=0.000049/13
(TOPMED)
G=0.00005/7
(GnomAD)
- HGVS:
15.
rs1490869838 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 11:117875936
(GRCh38)
11:117746651
(GRCh37)
- Canonical SPDI:
- NC_000011.10:117875935:C:A
- Gene:
- FXYD6 (Varview), FXYD6-FXYD2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000011/3
(TOPMED)
- HGVS:
16.
rs1490854186 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A,G,T
[Show Flanks]
- Chromosome:
- 11:117876784
(GRCh38)
11:117747499
(GRCh37)
- Canonical SPDI:
- NC_000011.10:117876783:C:A,NC_000011.10:117876783:C:G,NC_000011.10:117876783:C:T
- Gene:
- FXYD6 (Varview), FXYD6-FXYD2 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000011.10:g.117876784C>A, NC_000011.10:g.117876784C>G, NC_000011.10:g.117876784C>T, NC_000011.9:g.117747499C>A, NC_000011.9:g.117747499C>G, NC_000011.9:g.117747499C>T, NG_013071.1:g.5647G>T, NG_013071.1:g.5647G>C, NG_013071.1:g.5647G>A, NM_022003.3:c.-198G>T, NM_022003.3:c.-198G>C, NM_022003.3:c.-198G>A, NM_001164836.2:c.-371G>T, NM_001164836.2:c.-371G>C, NM_001164836.2:c.-371G>A, NM_001164832.2:c.-295G>T, NM_001164832.2:c.-295G>C, NM_001164832.2:c.-295G>A, NM_001164837.2:c.-274G>T, NM_001164837.2:c.-274G>C, NM_001164837.2:c.-274G>A, NM_001243598.2:c.-198G>T, NM_001243598.2:c.-198G>C, NM_001243598.2:c.-198G>A, NM_001204268.1:c.-198G>T, NM_001204268.1:c.-198G>C, NM_001204268.1:c.-198G>A, NR_037907.1:n.248G>T, NR_037907.1:n.248G>C, NR_037907.1:n.248G>A
17.
rs1490817840 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 11:117846088
(GRCh38)
11:117716803
(GRCh37)
- Canonical SPDI:
- NC_000011.10:117846087:A:G
- Gene:
- FXYD6 (Varview), FXYD6-FXYD2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000019/5
(TOPMED)
- HGVS:
18.
rs1490775515 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CT>-
[Show Flanks]
- Chromosome:
- 11:117858647
(GRCh38)
11:117729362
(GRCh37)
- Canonical SPDI:
- NC_000011.10:117858645:TCT:T
- Gene:
- FXYD6 (Varview), FXYD6-FXYD2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
-=0.00004/2
(GnomAD)
- HGVS:
19.
rs1490760174 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 11:117860634
(GRCh38)
11:117731349
(GRCh37)
- Canonical SPDI:
- NC_000011.10:117860633:G:C
- Gene:
- FXYD6 (Varview), FXYD6-FXYD2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
C=0.000019/5
(TOPMED)
- HGVS:
20.
rs1490739389 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G
[Show Flanks]
- Chromosome:
- 11:117856856
(GRCh38)
11:117727571
(GRCh37)
- Canonical SPDI:
- NC_000011.10:117856855:C:G
- Gene:
- FXYD6 (Varview), FXYD6-FXYD2 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS: