Links from Gene
Items: 1 to 20 of 4983
1.
rs1491531238 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->T
[Show Flanks]
- Chromosome:
- 1:10011292
(GRCh38)
1:10071351
(GRCh37)
- Canonical SPDI:
- NC_000001.11:10011292::T
- Gene:
- RBP7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0.000071/1
(
ALFA)
T=0.000014/2
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
2.
rs1491097220 has merged into rs772810621 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:9998417
(GRCh38)
1:10058475
(GRCh37)
- Canonical SPDI:
- NC_000001.11:9998407:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000001.11:9998407:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:9998407:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000001.11:9998407:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:9998407:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000001.11:9998407:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000001.11:9998407:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:9998407:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:9998407:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:9998407:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:9998407:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:9998407:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:9998407:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:9998407:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:9998407:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:9998407:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:9998407:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:9998407:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:9998407:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:9998407:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:9998407:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:9998407:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:9998407:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:9998407:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:9998407:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:9998407:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:9998407:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:9998407:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- RBP7 (Varview), LOC124903840 (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTT=0./0
(
ALFA)
-=0.000034/9
(TOPMED)
TT=0.125/5
(GENOME_DK)
TTTT=0.140374/541
(ALSPAC)
TTTT=0.159385/591
(TWINSUK)
- HGVS:
NC_000001.11:g.9998417_9998425del, NC_000001.11:g.9998419_9998425del, NC_000001.11:g.9998420_9998425del, NC_000001.11:g.9998421_9998425del, NC_000001.11:g.9998422_9998425del, NC_000001.11:g.9998423_9998425del, NC_000001.11:g.9998424_9998425del, NC_000001.11:g.9998425del, NC_000001.11:g.9998425dup, NC_000001.11:g.9998424_9998425dup, NC_000001.11:g.9998423_9998425dup, NC_000001.11:g.9998422_9998425dup, NC_000001.11:g.9998421_9998425dup, NC_000001.11:g.9998420_9998425dup, NC_000001.11:g.9998419_9998425dup, NC_000001.11:g.9998418_9998425dup, NC_000001.11:g.9998417_9998425dup, NC_000001.11:g.9998416_9998425dup, NC_000001.11:g.9998415_9998425dup, NC_000001.11:g.9998414_9998425dup, NC_000001.11:g.9998413_9998425dup, NC_000001.11:g.9998412_9998425dup, NC_000001.11:g.9998411_9998425dup, NC_000001.11:g.9998409_9998425dup, NC_000001.11:g.9998425_9998426insTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.9998425_9998426insTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.9998425_9998426insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.11:g.9998425_9998426insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.10058475_10058483del, NC_000001.10:g.10058477_10058483del, NC_000001.10:g.10058478_10058483del, NC_000001.10:g.10058479_10058483del, NC_000001.10:g.10058480_10058483del, NC_000001.10:g.10058481_10058483del, NC_000001.10:g.10058482_10058483del, NC_000001.10:g.10058483del, NC_000001.10:g.10058483dup, NC_000001.10:g.10058482_10058483dup, NC_000001.10:g.10058481_10058483dup, NC_000001.10:g.10058480_10058483dup, NC_000001.10:g.10058479_10058483dup, NC_000001.10:g.10058478_10058483dup, NC_000001.10:g.10058477_10058483dup, NC_000001.10:g.10058476_10058483dup, NC_000001.10:g.10058475_10058483dup, NC_000001.10:g.10058474_10058483dup, NC_000001.10:g.10058473_10058483dup, NC_000001.10:g.10058472_10058483dup, NC_000001.10:g.10058471_10058483dup, NC_000001.10:g.10058470_10058483dup, NC_000001.10:g.10058469_10058483dup, NC_000001.10:g.10058467_10058483dup, NC_000001.10:g.10058483_10058484insTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.10058483_10058484insTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.10058483_10058484insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000001.10:g.10058483_10058484insTTTTTTTTTTTTTTTTTTTTTTTTTTT
3.
rs1491017103 has merged into rs1212966695 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AGAGAGAGAG>-,AG,AGAG,AGAGAG,AGAGAGAG,AGAGAGAGAGAG,AGAGAGAGAGAGAG,AGAGAGAGAGAGAGAG,AGAGAGAGAGAGAGAGAG
[Show Flanks]
- Chromosome:
- 1:10006775
(GRCh38)
1:10066833
(GRCh37)
- Canonical SPDI:
- NC_000001.11:10006764:AGAGAGAGAGAGAGAGAGAG:AGAGAGAGAG,NC_000001.11:10006764:AGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAG,NC_000001.11:10006764:AGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAG,NC_000001.11:10006764:AGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAG,NC_000001.11:10006764:AGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAG,NC_000001.11:10006764:AGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAG,NC_000001.11:10006764:AGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAG,NC_000001.11:10006764:AGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAG,NC_000001.11:10006764:AGAGAGAGAGAGAGAGAGAG:AGAGAGAGAGAGAGAGAGAGAGAGAGAG
- Gene:
- RBP7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AGAGAGAGAGAG=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
AG=0.061667/37
(NorthernSweden)
- HGVS:
NC_000001.11:g.10006765AG[5], NC_000001.11:g.10006765AG[6], NC_000001.11:g.10006765AG[7], NC_000001.11:g.10006765AG[8], NC_000001.11:g.10006765AG[9], NC_000001.11:g.10006765AG[11], NC_000001.11:g.10006765AG[12], NC_000001.11:g.10006765AG[13], NC_000001.11:g.10006765AG[14], NC_000001.10:g.10066823AG[5], NC_000001.10:g.10066823AG[6], NC_000001.10:g.10066823AG[7], NC_000001.10:g.10066823AG[8], NC_000001.10:g.10066823AG[9], NC_000001.10:g.10066823AG[11], NC_000001.10:g.10066823AG[12], NC_000001.10:g.10066823AG[13], NC_000001.10:g.10066823AG[14]
4.
rs1490758106 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:10004429
(GRCh38)
1:10064487
(GRCh37)
- Canonical SPDI:
- NC_000001.11:10004428:G:A
- Gene:
- RBP7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
5.
rs1490650522 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- A>-,AA,AAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 1:10011757
(GRCh38)
1:10071815
(GRCh37)
- Canonical SPDI:
- NC_000001.11:10011756:AAAAAA:AAAAA,NC_000001.11:10011756:AAAAAA:AAAAAAA,NC_000001.11:10011756:AAAAAA:AAAAAAAAAAAAAAAA
- Gene:
- RBP7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAA=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
6.
rs1490648549 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:9997709
(GRCh38)
1:10057767
(GRCh37)
- Canonical SPDI:
- NC_000001.11:9997708:G:A
- Gene:
- RBP7 (Varview), LOC124903840 (Varview)
- Functional Consequence:
- intron_variant,missense_variant,coding_sequence_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
7.
rs1490387986 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:9996975
(GRCh38)
1:10057033
(GRCh37)
- Canonical SPDI:
- NC_000001.11:9996974:A:G
- Gene:
- NMNAT1 (Varview), RBP7 (Varview), LOC124903840 (Varview)
- Functional Consequence:
- 500B_downstream_variant,intron_variant,upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000008/2
(TOPMED)
- HGVS:
8.
rs1490298954 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:10003058
(GRCh38)
1:10063116
(GRCh37)
- Canonical SPDI:
- NC_000001.11:10003057:G:A
- Gene:
- RBP7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
9.
rs1490228761 has merged into rs56955055 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTTT>-,TT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 1:10004077
(GRCh38)
1:10064135
(GRCh37)
- Canonical SPDI:
- NC_000001.11:10004065:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000001.11:10004065:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000001.11:10004065:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000001.11:10004065:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000001.11:10004065:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000001.11:10004065:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000001.11:10004065:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000001.11:10004065:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:10004065:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:10004065:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:10004065:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:10004065:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:10004065:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:10004065:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:10004065:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:10004065:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:10004065:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:10004065:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:10004065:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000001.11:10004065:TTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- RBP7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTTTTTTTTTTTT=0./0
(
ALFA)
- HGVS:
NC_000001.11:g.10004077_10004090del, NC_000001.11:g.10004079_10004090del, NC_000001.11:g.10004082_10004090del, NC_000001.11:g.10004083_10004090del, NC_000001.11:g.10004085_10004090del, NC_000001.11:g.10004086_10004090del, NC_000001.11:g.10004087_10004090del, NC_000001.11:g.10004088_10004090del, NC_000001.11:g.10004089_10004090del, NC_000001.11:g.10004090del, NC_000001.11:g.10004090dup, NC_000001.11:g.10004089_10004090dup, NC_000001.11:g.10004088_10004090dup, NC_000001.11:g.10004087_10004090dup, NC_000001.11:g.10004086_10004090dup, NC_000001.11:g.10004085_10004090dup, NC_000001.11:g.10004084_10004090dup, NC_000001.11:g.10004083_10004090dup, NC_000001.11:g.10004082_10004090dup, NC_000001.11:g.10004066_10004090dup, NC_000001.10:g.10064135_10064148del, NC_000001.10:g.10064137_10064148del, NC_000001.10:g.10064140_10064148del, NC_000001.10:g.10064141_10064148del, NC_000001.10:g.10064143_10064148del, NC_000001.10:g.10064144_10064148del, NC_000001.10:g.10064145_10064148del, NC_000001.10:g.10064146_10064148del, NC_000001.10:g.10064147_10064148del, NC_000001.10:g.10064148del, NC_000001.10:g.10064148dup, NC_000001.10:g.10064147_10064148dup, NC_000001.10:g.10064146_10064148dup, NC_000001.10:g.10064145_10064148dup, NC_000001.10:g.10064144_10064148dup, NC_000001.10:g.10064143_10064148dup, NC_000001.10:g.10064142_10064148dup, NC_000001.10:g.10064141_10064148dup, NC_000001.10:g.10064140_10064148dup, NC_000001.10:g.10064124_10064148dup
10.
rs1490160627 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- A>-
[Show Flanks]
- Chromosome:
- 1:10011234
(GRCh38)
1:10071292
(GRCh37)
- Canonical SPDI:
- NC_000001.11:10011233:A:
- Gene:
- RBP7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
- HGVS:
11.
rs1490158779 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 1:10008382
(GRCh38)
1:10068440
(GRCh37)
- Canonical SPDI:
- NC_000001.11:10008381:G:A,NC_000001.11:10008381:G:C
- Gene:
- RBP7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000066/1
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000223/1
(Estonian)
- HGVS:
12.
rs1490112994 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 1:10010566
(GRCh38)
1:10070624
(GRCh37)
- Canonical SPDI:
- NC_000001.11:10010565:G:A,NC_000001.11:10010565:G:T
- Gene:
- RBP7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490083103 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 1:10012804
(GRCh38)
1:10072862
(GRCh37)
- Canonical SPDI:
- NC_000001.11:10012803:G:A
- Gene:
- RBP7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000019/5
(TOPMED)
A=0.000021/3
(GnomAD)
- HGVS:
14.
rs1489923655 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 1:9995799
(GRCh38)
1:10055857
(GRCh37)
- Canonical SPDI:
- NC_000001.11:9995798:C:T
- Gene:
- NMNAT1 (Varview), RBP7 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_downstream_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:
15.
rs1489809859 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 1:10002500
(GRCh38)
1:10062558
(GRCh37)
- Canonical SPDI:
- NC_000001.11:10002498:TAT:T
- Gene:
- RBP7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000004/1
(TOPMED)
-=0.000007/1
(GnomAD)
- HGVS:
16.
rs1489777768 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 1:10004896
(GRCh38)
1:10064954
(GRCh37)
- Canonical SPDI:
- NC_000001.11:10004895:G:T
- Gene:
- RBP7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
T=0.000007/1
(GnomAD)
- HGVS:
17.
rs1489682553 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>T
[Show Flanks]
- Chromosome:
- 1:10003516
(GRCh38)
1:10063574
(GRCh37)
- Canonical SPDI:
- NC_000001.11:10003515:A:T
- Gene:
- RBP7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
18.
rs1489536566 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 1:10013790
(GRCh38)
1:10073848
(GRCh37)
- Canonical SPDI:
- NC_000001.11:10013789:A:G
- Gene:
- RBP7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000224/1
(
ALFA)
G=0.000007/1
(GnomAD)
G=0.000223/1
(Estonian)
- HGVS:
19.
rs1488919779 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- C>-
[Show Flanks]
- Chromosome:
- 1:9999215
(GRCh38)
1:10059273
(GRCh37)
- Canonical SPDI:
- NC_000001.11:9999214:C:
- Gene:
- RBP7 (Varview), LOC124903840 (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,2KB_upstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
-=0.000011/3
(TOPMED)
- HGVS:
20.
rs1488831686 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,T
[Show Flanks]
- Chromosome:
- 1:10005117
(GRCh38)
1:10065175
(GRCh37)
- Canonical SPDI:
- NC_000001.11:10005116:G:A,NC_000001.11:10005116:G:T
- Gene:
- RBP7 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
T=0.000007/1
(GnomAD)
- HGVS: