Links from Gene
Items: 1 to 20 of 3766
1.
rs1491535026 has merged into rs58948706 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 12:119677771
(GRCh38)
12:120115576
(GRCh37)
- Canonical SPDI:
- NC_000012.12:119677761:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000012.12:119677761:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:119677761:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:119677761:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:119677761:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:119677761:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:119677761:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:119677761:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:119677761:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:119677761:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:119677761:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:119677761:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:119677761:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:119677761:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:119677761:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:119677761:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:119677761:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:119677761:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:119677761:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:119677761:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:119677761:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:119677761:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:119677761:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:119677761:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:119677761:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- PRKAB1 (Varview), LOC124903033 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000012.12:g.119677771_119677782del, NC_000012.12:g.119677773_119677782del, NC_000012.12:g.119677774_119677782del, NC_000012.12:g.119677776_119677782del, NC_000012.12:g.119677777_119677782del, NC_000012.12:g.119677778_119677782del, NC_000012.12:g.119677779_119677782del, NC_000012.12:g.119677780_119677782del, NC_000012.12:g.119677781_119677782del, NC_000012.12:g.119677782del, NC_000012.12:g.119677782dup, NC_000012.12:g.119677781_119677782dup, NC_000012.12:g.119677780_119677782dup, NC_000012.12:g.119677779_119677782dup, NC_000012.12:g.119677778_119677782dup, NC_000012.12:g.119677777_119677782dup, NC_000012.12:g.119677776_119677782dup, NC_000012.12:g.119677775_119677782dup, NC_000012.12:g.119677774_119677782dup, NC_000012.12:g.119677773_119677782dup, NC_000012.12:g.119677770_119677782dup, NC_000012.12:g.119677767_119677782dup, NC_000012.12:g.119677782_119677783insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.119677782_119677783insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.119677782_119677783insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.120115576_120115587del, NC_000012.11:g.120115578_120115587del, NC_000012.11:g.120115579_120115587del, NC_000012.11:g.120115581_120115587del, NC_000012.11:g.120115582_120115587del, NC_000012.11:g.120115583_120115587del, NC_000012.11:g.120115584_120115587del, NC_000012.11:g.120115585_120115587del, NC_000012.11:g.120115586_120115587del, NC_000012.11:g.120115587del, NC_000012.11:g.120115587dup, NC_000012.11:g.120115586_120115587dup, NC_000012.11:g.120115585_120115587dup, NC_000012.11:g.120115584_120115587dup, NC_000012.11:g.120115583_120115587dup, NC_000012.11:g.120115582_120115587dup, NC_000012.11:g.120115581_120115587dup, NC_000012.11:g.120115580_120115587dup, NC_000012.11:g.120115579_120115587dup, NC_000012.11:g.120115578_120115587dup, NC_000012.11:g.120115575_120115587dup, NC_000012.11:g.120115572_120115587dup, NC_000012.11:g.120115587_120115588insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.120115587_120115588insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.120115587_120115588insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
2.
rs1491500119 [Homo sapiens]- Variant type:
- INS
- Alleles:
- ->G
[Show Flanks]
- Chromosome:
- 12:119677762
(GRCh38)
12:120115568
(GRCh37)
- Canonical SPDI:
- NC_000012.12:119677762::G
- Gene:
- PRKAB1 (Varview), LOC124903033 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.00015/1
(GnomAD)
- HGVS:
3.
rs1491383665 has merged into rs58948706 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TTTTTTTTTTTT>-,TT,TTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
[Show Flanks]
- Chromosome:
- 12:119677771
(GRCh38)
12:120115576
(GRCh37)
- Canonical SPDI:
- NC_000012.12:119677761:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000012.12:119677761:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000012.12:119677761:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000012.12:119677761:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000012.12:119677761:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000012.12:119677761:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000012.12:119677761:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000012.12:119677761:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000012.12:119677761:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000012.12:119677761:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000012.12:119677761:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:119677761:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:119677761:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:119677761:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:119677761:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:119677761:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:119677761:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:119677761:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:119677761:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:119677761:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:119677761:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:119677761:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:119677761:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:119677761:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000012.12:119677761:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
- Gene:
- PRKAB1 (Varview), LOC124903033 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000012.12:g.119677771_119677782del, NC_000012.12:g.119677773_119677782del, NC_000012.12:g.119677774_119677782del, NC_000012.12:g.119677776_119677782del, NC_000012.12:g.119677777_119677782del, NC_000012.12:g.119677778_119677782del, NC_000012.12:g.119677779_119677782del, NC_000012.12:g.119677780_119677782del, NC_000012.12:g.119677781_119677782del, NC_000012.12:g.119677782del, NC_000012.12:g.119677782dup, NC_000012.12:g.119677781_119677782dup, NC_000012.12:g.119677780_119677782dup, NC_000012.12:g.119677779_119677782dup, NC_000012.12:g.119677778_119677782dup, NC_000012.12:g.119677777_119677782dup, NC_000012.12:g.119677776_119677782dup, NC_000012.12:g.119677775_119677782dup, NC_000012.12:g.119677774_119677782dup, NC_000012.12:g.119677773_119677782dup, NC_000012.12:g.119677770_119677782dup, NC_000012.12:g.119677767_119677782dup, NC_000012.12:g.119677782_119677783insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.119677782_119677783insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.12:g.119677782_119677783insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.120115576_120115587del, NC_000012.11:g.120115578_120115587del, NC_000012.11:g.120115579_120115587del, NC_000012.11:g.120115581_120115587del, NC_000012.11:g.120115582_120115587del, NC_000012.11:g.120115583_120115587del, NC_000012.11:g.120115584_120115587del, NC_000012.11:g.120115585_120115587del, NC_000012.11:g.120115586_120115587del, NC_000012.11:g.120115587del, NC_000012.11:g.120115587dup, NC_000012.11:g.120115586_120115587dup, NC_000012.11:g.120115585_120115587dup, NC_000012.11:g.120115584_120115587dup, NC_000012.11:g.120115583_120115587dup, NC_000012.11:g.120115582_120115587dup, NC_000012.11:g.120115581_120115587dup, NC_000012.11:g.120115580_120115587dup, NC_000012.11:g.120115579_120115587dup, NC_000012.11:g.120115578_120115587dup, NC_000012.11:g.120115575_120115587dup, NC_000012.11:g.120115572_120115587dup, NC_000012.11:g.120115587_120115588insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.120115587_120115588insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000012.11:g.120115587_120115588insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
4.
rs1491040662 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- TG>-
[Show Flanks]
- Chromosome:
- 12:119677782
(GRCh38)
12:120115587
(GRCh37)
- Canonical SPDI:
- NC_000012.12:119677781:TG:
- Gene:
- PRKAB1 (Varview), LOC124903033 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
-=0.017451/207
(
ALFA)
-=0.001095/126
(GnomAD)
- HGVS:
5.
rs1490998847 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:119666854
(GRCh38)
12:120104659
(GRCh37)
- Canonical SPDI:
- NC_000012.12:119666853:G:A
- Gene:
- PRKAB1 (Varview), LOC105370027 (Varview)
- Functional Consequence:
- genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
6.
rs1490735219 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:119673813
(GRCh38)
12:120111618
(GRCh37)
- Canonical SPDI:
- NC_000012.12:119673812:C:T
- Gene:
- PRKAB1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(TOPMED)
- HGVS:
7.
rs1490718059 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:119668157
(GRCh38)
12:120105962
(GRCh37)
- Canonical SPDI:
- NC_000012.12:119668156:A:G
- Gene:
- PRKAB1 (Varview), LOC105370027 (Varview)
- Functional Consequence:
- 5_prime_UTR_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
G=0./0
(
ALFA)
G=0.000007/1
(GnomAD)
- HGVS:
8.
rs1490229827 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 12:119669129
(GRCh38)
12:120106934
(GRCh37)
- Canonical SPDI:
- NC_000012.12:119669128:T:A,NC_000012.12:119669128:T:C
- Gene:
- PRKAB1 (Varview), LOC105370027 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000044/6
(GnomAD)
T=0.5/1
(SGDP_PRJ)
- HGVS:
9.
rs1490071344 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:119681926
(GRCh38)
12:120119731
(GRCh37)
- Canonical SPDI:
- NC_000012.12:119681925:T:C
- Gene:
- PRKAB1 (Varview), LOC124903033 (Varview)
- Functional Consequence:
- downstream_transcript_variant,500B_downstream_variant,intron_variant
- Validated:
- by frequency,by alfa
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
- HGVS:
10.
rs1489993872 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>G
[Show Flanks]
- Chromosome:
- 12:119668354
(GRCh38)
12:120106159
(GRCh37)
- Canonical SPDI:
- NC_000012.12:119668353:T:G
- Gene:
- PRKAB1 (Varview), LOC105370027 (Varview)
- Functional Consequence:
- coding_sequence_variant,2KB_upstream_variant,missense_variant,upstream_transcript_variant
- Validated:
- by frequency
- MAF:
G=0.000004/1
(GnomAD_exomes)
- HGVS:
11.
rs1489952004 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>G,T
[Show Flanks]
- Chromosome:
- 12:119680504
(GRCh38)
12:120118309
(GRCh37)
- Canonical SPDI:
- NC_000012.12:119680503:C:G,NC_000012.12:119680503:C:T
- Gene:
- PRKAB1 (Varview), LOC124903033 (Varview)
- Functional Consequence:
- intron_variant,3_prime_UTR_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000012.12:g.119680504C>G, NC_000012.12:g.119680504C>T, NC_000012.11:g.120118309C>G, NC_000012.11:g.120118309C>T, NM_006253.5:c.*179C>G, NM_006253.5:c.*179C>T, NM_006253.4:c.*179C>G, NM_006253.4:c.*179C>T, XM_005253909.2:c.*179C>G, XM_005253909.2:c.*179C>T, XM_005253909.1:c.*179C>G, XM_005253909.1:c.*179C>T
12.
rs1489607730 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 12:119668768
(GRCh38)
12:120106573
(GRCh37)
- Canonical SPDI:
- NC_000012.12:119668767:G:A
- Gene:
- PRKAB1 (Varview), LOC105370027 (Varview)
- Functional Consequence:
- intron_variant,2KB_upstream_variant,upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
- HGVS:
13.
rs1489363132 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:119672905
(GRCh38)
12:120110710
(GRCh37)
- Canonical SPDI:
- NC_000012.12:119672904:A:G
- Gene:
- PRKAB1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0.000071/1
(
ALFA)
G=0.000029/4
(GnomAD)
G=0.000068/18
(TOPMED)
- HGVS:
14.
rs1489312251 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:119671399
(GRCh38)
12:120109204
(GRCh37)
- Canonical SPDI:
- NC_000012.12:119671398:T:C
- Gene:
- PRKAB1 (Varview)
- Functional Consequence:
- 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:
15.
rs1488757164 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 12:119673699
(GRCh38)
12:120111504
(GRCh37)
- Canonical SPDI:
- NC_000012.12:119673698:G:A,NC_000012.12:119673698:G:C
- Gene:
- PRKAB1 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
16.
rs1488579157 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>T
[Show Flanks]
- Chromosome:
- 12:119674484
(GRCh38)
12:120112289
(GRCh37)
- Canonical SPDI:
- NC_000012.12:119674483:C:T
- Gene:
- PRKAB1 (Varview), LOC124903033 (Varview)
- Functional Consequence:
- non_coding_transcript_variant,intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
T=0.000004/1
(GnomAD_exomes)
T=0.000004/1
(TOPMED)
- HGVS:
17.
rs1488537278 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 12:119678981
(GRCh38)
12:120116786
(GRCh37)
- Canonical SPDI:
- NC_000012.12:119678980:A:G
- Gene:
- PRKAB1 (Varview), LOC124903033 (Varview)
- Functional Consequence:
- 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:
18.
rs1488475526 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>C
[Show Flanks]
- Chromosome:
- 12:119679992
(GRCh38)
12:120117797
(GRCh37)
- Canonical SPDI:
- NC_000012.12:119679991:G:C
- Gene:
- PRKAB1 (Varview), LOC124903033 (Varview)
- Functional Consequence:
- intron_variant,coding_sequence_variant,synonymous_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000004/1
(TOPMED)
C=0.000007/1
(GnomAD)
- HGVS:
19.
rs1488216166 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>C
[Show Flanks]
- Chromosome:
- 12:119678405
(GRCh38)
12:120116210
(GRCh37)
- Canonical SPDI:
- NC_000012.12:119678404:T:C
- Gene:
- PRKAB1 (Varview), LOC124903033 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000011/3
(TOPMED)
C=0.000106/2
(TOMMO)
- HGVS:
20.
rs1488210980 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- TCGAC>-
[Show Flanks]
- Chromosome:
- 12:119678834
(GRCh38)
12:120116639
(GRCh37)
- Canonical SPDI:
- NC_000012.12:119678832:CTCGAC:C
- Gene:
- PRKAB1 (Varview), LOC124903033 (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0.000071/1
(
ALFA)
-=0.000057/8
(GnomAD)
-=0.000094/25
(TOPMED)
- HGVS: