Links from Gene
Items: 1 to 20 of 6798
1.
rs1491521108 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- G>-,GG
[Show Flanks]
- Chromosome:
- 7:5045634
(GRCh38)
7:5085265
(GRCh37)
- Canonical SPDI:
- NC_000007.14:5045633:GGGG:GGG,NC_000007.14:5045633:GGGG:GGGGG
- Gene:
- RBAK (Varview), RBAK-RBAKDN (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
GGGGG=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
2.
rs1491520180 has merged into rs35675888 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GATTGATTGATTGATT>-,GATT,GATTGATT,GATTGATTGATT,GATTGATTGATTGATTGATT,GATTGATTGATTGATTGATTGATT,GATTGATTGATTGATTGATTGATTGATT,GATTGATTGATTGATTGATTGATTGATTGATT
[Show Flanks]
- Chromosome:
- 7:5052760
(GRCh38)
7:5092391
(GRCh37)
- Canonical SPDI:
- NC_000007.14:5052741:TTGATTGATTGATTGATTGATTGATTGATTGATT:TTGATTGATTGATTGATT,NC_000007.14:5052741:TTGATTGATTGATTGATTGATTGATTGATTGATT:TTGATTGATTGATTGATTGATT,NC_000007.14:5052741:TTGATTGATTGATTGATTGATTGATTGATTGATT:TTGATTGATTGATTGATTGATTGATT,NC_000007.14:5052741:TTGATTGATTGATTGATTGATTGATTGATTGATT:TTGATTGATTGATTGATTGATTGATTGATT,NC_000007.14:5052741:TTGATTGATTGATTGATTGATTGATTGATTGATT:TTGATTGATTGATTGATTGATTGATTGATTGATTGATT,NC_000007.14:5052741:TTGATTGATTGATTGATTGATTGATTGATTGATT:TTGATTGATTGATTGATTGATTGATTGATTGATTGATTGATT,NC_000007.14:5052741:TTGATTGATTGATTGATTGATTGATTGATTGATT:TTGATTGATTGATTGATTGATTGATTGATTGATTGATTGATTGATT,NC_000007.14:5052741:TTGATTGATTGATTGATTGATTGATTGATTGATT:TTGATTGATTGATTGATTGATTGATTGATTGATTGATTGATTGATTGATT
- Gene:
- RBAK (Varview), RBAK-RBAKDN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TTGATTGATTGATTGATTGATTGATT=0./0
(
ALFA)
TTGA=0.04453/11
(1000Genomes)
TTGA=0.15/6
(GENOME_DK)
- HGVS:
NC_000007.14:g.5052744GATT[4], NC_000007.14:g.5052744GATT[5], NC_000007.14:g.5052744GATT[6], NC_000007.14:g.5052744GATT[7], NC_000007.14:g.5052744GATT[9], NC_000007.14:g.5052744GATT[10], NC_000007.14:g.5052744GATT[11], NC_000007.14:g.5052744GATT[12], NC_000007.13:g.5092375GATT[4], NC_000007.13:g.5092375GATT[5], NC_000007.13:g.5092375GATT[6], NC_000007.13:g.5092375GATT[7], NC_000007.13:g.5092375GATT[9], NC_000007.13:g.5092375GATT[10], NC_000007.13:g.5092375GATT[11], NC_000007.13:g.5092375GATT[12], NG_047174.1:g.11924GATT[4], NG_047174.1:g.11924GATT[5], NG_047174.1:g.11924GATT[6], NG_047174.1:g.11924GATT[7], NG_047174.1:g.11924GATT[9], NG_047174.1:g.11924GATT[10], NG_047174.1:g.11924GATT[11], NG_047174.1:g.11924GATT[12]
3.
rs1491399639 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- AG>-
[Show Flanks]
- Chromosome:
- 7:5045633
(GRCh38)
7:5085264
(GRCh37)
- Canonical SPDI:
- NC_000007.14:5045632:AG:
- Gene:
- RBAK (Varview), RBAK-RBAKDN (Varview)
- Functional Consequence:
- 2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0./0
(
ALFA)
-=0.000023/6
(TOPMED)
-=0.000035/1
(TOMMO)
-=0.000043/6
(GnomAD)
- HGVS:
4.
rs1491327072 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TT>-
[Show Flanks]
- Chromosome:
- 7:5052776
(GRCh38)
7:5092407
(GRCh37)
- Canonical SPDI:
- NC_000007.14:5052773:TTTT:TT
- Gene:
- RBAK (Varview), RBAK-RBAKDN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by cluster
- MAF:
-=0.007/26
(TWINSUK)
-=0.007/27
(ALSPAC)
- HGVS:
5.
rs1491195591 has merged into rs887932671 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTTT>-,TT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 7:5056113
(GRCh38)
7:5095744
(GRCh37)
- Canonical SPDI:
- NC_000007.14:5056104:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000007.14:5056104:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:5056104:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:5056104:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:5056104:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:5056104:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:5056104:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:5056104:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000007.14:5056104:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:5056104:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:5056104:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:5056104:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:5056104:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:5056104:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:5056104:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:5056104:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:5056104:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:5056104:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:5056104:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:5056104:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:5056104:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- RBAK (Varview), RBAK-RBAKDN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000007.14:g.5056113_5056125del, NC_000007.14:g.5056115_5056125del, NC_000007.14:g.5056117_5056125del, NC_000007.14:g.5056119_5056125del, NC_000007.14:g.5056120_5056125del, NC_000007.14:g.5056121_5056125del, NC_000007.14:g.5056123_5056125del, NC_000007.14:g.5056124_5056125del, NC_000007.14:g.5056125del, NC_000007.14:g.5056125dup, NC_000007.14:g.5056124_5056125dup, NC_000007.14:g.5056123_5056125dup, NC_000007.14:g.5056122_5056125dup, NC_000007.14:g.5056121_5056125dup, NC_000007.14:g.5056120_5056125dup, NC_000007.14:g.5056119_5056125dup, NC_000007.14:g.5056118_5056125dup, NC_000007.14:g.5056117_5056125dup, NC_000007.14:g.5056116_5056125dup, NC_000007.14:g.5056115_5056125dup, NC_000007.14:g.5056125_5056126insTTTTTTTTTTTTTTTTTTTTTT, NC_000007.13:g.5095744_5095756del, NC_000007.13:g.5095746_5095756del, NC_000007.13:g.5095748_5095756del, NC_000007.13:g.5095750_5095756del, NC_000007.13:g.5095751_5095756del, NC_000007.13:g.5095752_5095756del, NC_000007.13:g.5095754_5095756del, NC_000007.13:g.5095755_5095756del, NC_000007.13:g.5095756del, NC_000007.13:g.5095756dup, NC_000007.13:g.5095755_5095756dup, NC_000007.13:g.5095754_5095756dup, NC_000007.13:g.5095753_5095756dup, NC_000007.13:g.5095752_5095756dup, NC_000007.13:g.5095751_5095756dup, NC_000007.13:g.5095750_5095756dup, NC_000007.13:g.5095749_5095756dup, NC_000007.13:g.5095748_5095756dup, NC_000007.13:g.5095747_5095756dup, NC_000007.13:g.5095746_5095756dup, NC_000007.13:g.5095756_5095757insTTTTTTTTTTTTTTTTTTTTTT, NG_047174.1:g.15293_15305del, NG_047174.1:g.15295_15305del, NG_047174.1:g.15297_15305del, NG_047174.1:g.15299_15305del, NG_047174.1:g.15300_15305del, NG_047174.1:g.15301_15305del, NG_047174.1:g.15303_15305del, NG_047174.1:g.15304_15305del, NG_047174.1:g.15305del, NG_047174.1:g.15305dup, NG_047174.1:g.15304_15305dup, NG_047174.1:g.15303_15305dup, NG_047174.1:g.15302_15305dup, NG_047174.1:g.15301_15305dup, NG_047174.1:g.15300_15305dup, NG_047174.1:g.15299_15305dup, NG_047174.1:g.15298_15305dup, NG_047174.1:g.15297_15305dup, NG_047174.1:g.15296_15305dup, NG_047174.1:g.15295_15305dup, NG_047174.1:g.15305_15306insTTTTTTTTTTTTTTTTTTTTTT
6.
rs1491091642 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->C
[Show Flanks]
- Chromosome:
- 7:5056105
(GRCh38)
7:5095737
(GRCh37)
- Canonical SPDI:
- NC_000007.14:5056105::C
- Gene:
- RBAK (Varview), RBAK-RBAKDN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.00008/6
(GnomAD)
- HGVS:
7.
rs1491036949 has merged into rs71535175 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- GTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
[Show Flanks]
- Chromosome:
- 7:5063495
(GRCh38)
7:5103126
(GRCh37)
- Canonical SPDI:
- NC_000007.14:5063477:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000007.14:5063477:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000007.14:5063477:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000007.14:5063477:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:5063477:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:5063477:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:5063477:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:5063477:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:5063477:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:5063477:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:5063477:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:5063477:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:5063477:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:5063477:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:5063477:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:5063477:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:5063477:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:5063477:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:5063477:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:5063477:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:5063477:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000007.14:5063477:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
- Gene:
- RBAK (Varview), RBAK-RBAKDN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TGTGTGTGTGTGTGTGTGTGT=0./0
(
ALFA)
TGTGTGTGTG=0.3/12
(GENOME_DK)
- HGVS:
NC_000007.14:g.5063479GT[8], NC_000007.14:g.5063479GT[9], NC_000007.14:g.5063479GT[10], NC_000007.14:g.5063479GT[11], NC_000007.14:g.5063479GT[12], NC_000007.14:g.5063479GT[13], NC_000007.14:g.5063479GT[14], NC_000007.14:g.5063479GT[15], NC_000007.14:g.5063479GT[16], NC_000007.14:g.5063479GT[17], NC_000007.14:g.5063479GT[19], NC_000007.14:g.5063479GT[20], NC_000007.14:g.5063479GT[21], NC_000007.14:g.5063479GT[22], NC_000007.14:g.5063479GT[23], NC_000007.14:g.5063479GT[24], NC_000007.14:g.5063479GT[25], NC_000007.14:g.5063479GT[26], NC_000007.14:g.5063479GT[27], NC_000007.14:g.5063479GT[28], NC_000007.14:g.5063479GT[29], NC_000007.14:g.5063479GT[33], NC_000007.13:g.5103110GT[8], NC_000007.13:g.5103110GT[9], NC_000007.13:g.5103110GT[10], NC_000007.13:g.5103110GT[11], NC_000007.13:g.5103110GT[12], NC_000007.13:g.5103110GT[13], NC_000007.13:g.5103110GT[14], NC_000007.13:g.5103110GT[15], NC_000007.13:g.5103110GT[16], NC_000007.13:g.5103110GT[17], NC_000007.13:g.5103110GT[19], NC_000007.13:g.5103110GT[20], NC_000007.13:g.5103110GT[21], NC_000007.13:g.5103110GT[22], NC_000007.13:g.5103110GT[23], NC_000007.13:g.5103110GT[24], NC_000007.13:g.5103110GT[25], NC_000007.13:g.5103110GT[26], NC_000007.13:g.5103110GT[27], NC_000007.13:g.5103110GT[28], NC_000007.13:g.5103110GT[29], NC_000007.13:g.5103110GT[33], NG_047174.1:g.22659GT[8], NG_047174.1:g.22659GT[9], NG_047174.1:g.22659GT[10], NG_047174.1:g.22659GT[11], NG_047174.1:g.22659GT[12], NG_047174.1:g.22659GT[13], NG_047174.1:g.22659GT[14], NG_047174.1:g.22659GT[15], NG_047174.1:g.22659GT[16], NG_047174.1:g.22659GT[17], NG_047174.1:g.22659GT[19], NG_047174.1:g.22659GT[20], NG_047174.1:g.22659GT[21], NG_047174.1:g.22659GT[22], NG_047174.1:g.22659GT[23], NG_047174.1:g.22659GT[24], NG_047174.1:g.22659GT[25], NG_047174.1:g.22659GT[26], NG_047174.1:g.22659GT[27], NG_047174.1:g.22659GT[28], NG_047174.1:g.22659GT[29], NG_047174.1:g.22659GT[33]
9.
rs1490993154 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:5055372
(GRCh38)
7:5095003
(GRCh37)
- Canonical SPDI:
- NC_000007.14:5055371:A:G
- Gene:
- RBAK (Varview), RBAK-RBAKDN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
- HGVS:
10.
rs1490976964 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 7:5068347
(GRCh38)
7:5107978
(GRCh37)
- Canonical SPDI:
- NC_000007.14:5068346:C:T
- Gene:
- RBAK (Varview), RBAK-RBAKDN (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000008/2
(TOPMED)
- HGVS:
11.
rs1490953231 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:5065559
(GRCh38)
7:5105190
(GRCh37)
- Canonical SPDI:
- NC_000007.14:5065558:T:C
- Gene:
- RBAK (Varview), RBAK-RBAKDN (Varview)
- Functional Consequence:
- synonymous_variant,coding_sequence_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000094/1
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.00001/2
(GnomAD_exomes)
- HGVS:
12.
rs1490944137 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:5068532
(GRCh38)
7:5108163
(GRCh37)
- Canonical SPDI:
- NC_000007.14:5068531:T:C
- Gene:
- RBAK (Varview), RBAK-RBAKDN (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000007/1
(GnomAD)
- HGVS:
13.
rs1490835438 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:5048072
(GRCh38)
7:5087703
(GRCh37)
- Canonical SPDI:
- NC_000007.14:5048071:A:G
- Gene:
- RBAK (Varview), RBAK-RBAKDN (Varview)
- Functional Consequence:
- 5_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS:
14.
rs1490367680 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 7:5055082
(GRCh38)
7:5094713
(GRCh37)
- Canonical SPDI:
- NC_000007.14:5055081:A:G
- Gene:
- RBAK (Varview), RBAK-RBAKDN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency
- MAF:
G=0.000007/1
(GnomAD)
- HGVS:
15.
rs1490218729 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>T
[Show Flanks]
- Chromosome:
- 7:5054125
(GRCh38)
7:5093756
(GRCh37)
- Canonical SPDI:
- NC_000007.14:5054124:G:T
- Gene:
- RBAK (Varview), RBAK-RBAKDN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000007/1
(GnomAD)
T=0.000015/4
(TOPMED)
- HGVS:
16.
rs1490217664 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 7:5059811
(GRCh38)
7:5099442
(GRCh37)
- Canonical SPDI:
- NC_000007.14:5059810:G:A
- Gene:
- RBAK (Varview), RBAK-RBAKDN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000007/1
(GnomAD)
A=0.000008/2
(TOPMED)
- HGVS:
17.
rs1490203479 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>C
[Show Flanks]
- Chromosome:
- 7:5055930
(GRCh38)
7:5095561
(GRCh37)
- Canonical SPDI:
- NC_000007.14:5055929:A:C
- Gene:
- RBAK (Varview), RBAK-RBAKDN (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000014/2
(GnomAD)
- HGVS:
19.
rs1490128442 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 7:5069250
(GRCh38)
7:5108881
(GRCh37)
- Canonical SPDI:
- NC_000007.14:5069249:T:C
- Gene:
- RBAK (Varview), RBAK-RBAKDN (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000026/7
(TOPMED)
C=0.00005/7
(GnomAD)
C=0.001667/1
(NorthernSweden)
- HGVS:
20.
rs1490108190 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 7:5067051
(GRCh38)
7:5106682
(GRCh37)
- Canonical SPDI:
- NC_000007.14:5067050:T:G
- Gene:
- RBAK (Varview), RBAK-RBAKDN (Varview)
- Functional Consequence:
- 3_prime_UTR_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000007/1
(GnomAD)
- HGVS: