Links from Gene
Items: 1 to 20 of 1000
1.
rs1491547394 has merged into rs11299310 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:43324520
(GRCh38)
3:43366012
(GRCh37)
- Canonical SPDI:
- NC_000003.12:43324508:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:43324508:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:43324508:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:43324508:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:43324508:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:43324508:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:43324508:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:43324508:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:43324508:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:43324508:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:43324508:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:43324508:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:43324508:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:43324508:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SNRK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAAAA=0./0
(
ALFA)
-=0.0605/233
(ALSPAC)
-=0.1226/64
(NorthernSweden)
-=0.225/9
(GENOME_DK)
-=0.3149/1577
(1000Genomes)
- HGVS:
NC_000003.12:g.43324520_43324526del, NC_000003.12:g.43324521_43324526del, NC_000003.12:g.43324522_43324526del, NC_000003.12:g.43324523_43324526del, NC_000003.12:g.43324524_43324526del, NC_000003.12:g.43324525_43324526del, NC_000003.12:g.43324526del, NC_000003.12:g.43324526dup, NC_000003.12:g.43324525_43324526dup, NC_000003.12:g.43324523_43324526dup, NC_000003.12:g.43324522_43324526dup, NC_000003.12:g.43324520_43324526dup, NC_000003.12:g.43324519_43324526dup, NC_000003.12:g.43324517_43324526dup, NC_000003.11:g.43366012_43366018del, NC_000003.11:g.43366013_43366018del, NC_000003.11:g.43366014_43366018del, NC_000003.11:g.43366015_43366018del, NC_000003.11:g.43366016_43366018del, NC_000003.11:g.43366017_43366018del, NC_000003.11:g.43366018del, NC_000003.11:g.43366018dup, NC_000003.11:g.43366017_43366018dup, NC_000003.11:g.43366015_43366018dup, NC_000003.11:g.43366014_43366018dup, NC_000003.11:g.43366012_43366018dup, NC_000003.11:g.43366011_43366018dup, NC_000003.11:g.43366009_43366018dup
3.
rs1491436184 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AT>-
[Show Flanks]
- Chromosome:
- 3:43326278
(GRCh38)
3:43367770
(GRCh37)
- Canonical SPDI:
- NC_000003.12:43326276:TAT:T
- Gene:
- SNRK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
T=0./0
(
ALFA)
-=0.000007/1
(GnomAD)
- HGVS:
4.
rs1491381346 has merged into rs33994267 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- AAAAAAAAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
[Show Flanks]
- Chromosome:
- 3:43333367
(GRCh38)
3:43374859
(GRCh37)
- Canonical SPDI:
- NC_000003.12:43333358:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000003.12:43333358:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000003.12:43333358:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000003.12:43333358:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000003.12:43333358:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000003.12:43333358:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000003.12:43333358:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000003.12:43333358:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000003.12:43333358:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000003.12:43333358:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000003.12:43333358:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000003.12:43333358:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000003.12:43333358:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000003.12:43333358:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:43333358:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:43333358:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:43333358:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:43333358:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:43333358:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:43333358:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:43333358:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:43333358:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:43333358:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:43333358:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:43333358:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:43333358:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:43333358:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:43333358:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:43333358:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:43333358:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000003.12:43333358:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
- Gene:
- SNRK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AAAAAAAAAA=0./0
(
ALFA)
AAAAAAAAAAAAAAAAAAAAA=0./0
(GENOME_DK)
- HGVS:
NC_000003.12:g.43333367_43333387del, NC_000003.12:g.43333369_43333387del, NC_000003.12:g.43333370_43333387del, NC_000003.12:g.43333371_43333387del, NC_000003.12:g.43333372_43333387del, NC_000003.12:g.43333373_43333387del, NC_000003.12:g.43333374_43333387del, NC_000003.12:g.43333375_43333387del, NC_000003.12:g.43333376_43333387del, NC_000003.12:g.43333377_43333387del, NC_000003.12:g.43333378_43333387del, NC_000003.12:g.43333379_43333387del, NC_000003.12:g.43333380_43333387del, NC_000003.12:g.43333381_43333387del, NC_000003.12:g.43333382_43333387del, NC_000003.12:g.43333383_43333387del, NC_000003.12:g.43333384_43333387del, NC_000003.12:g.43333385_43333387del, NC_000003.12:g.43333386_43333387del, NC_000003.12:g.43333387del, NC_000003.12:g.43333387dup, NC_000003.12:g.43333386_43333387dup, NC_000003.12:g.43333385_43333387dup, NC_000003.12:g.43333384_43333387dup, NC_000003.12:g.43333383_43333387dup, NC_000003.12:g.43333382_43333387dup, NC_000003.12:g.43333381_43333387dup, NC_000003.12:g.43333380_43333387dup, NC_000003.12:g.43333378_43333387dup, NC_000003.12:g.43333377_43333387dup, NC_000003.12:g.43333376_43333387dup, NC_000003.11:g.43374859_43374879del, NC_000003.11:g.43374861_43374879del, NC_000003.11:g.43374862_43374879del, NC_000003.11:g.43374863_43374879del, NC_000003.11:g.43374864_43374879del, NC_000003.11:g.43374865_43374879del, NC_000003.11:g.43374866_43374879del, NC_000003.11:g.43374867_43374879del, NC_000003.11:g.43374868_43374879del, NC_000003.11:g.43374869_43374879del, NC_000003.11:g.43374870_43374879del, NC_000003.11:g.43374871_43374879del, NC_000003.11:g.43374872_43374879del, NC_000003.11:g.43374873_43374879del, NC_000003.11:g.43374874_43374879del, NC_000003.11:g.43374875_43374879del, NC_000003.11:g.43374876_43374879del, NC_000003.11:g.43374877_43374879del, NC_000003.11:g.43374878_43374879del, NC_000003.11:g.43374879del, NC_000003.11:g.43374879dup, NC_000003.11:g.43374878_43374879dup, NC_000003.11:g.43374877_43374879dup, NC_000003.11:g.43374876_43374879dup, NC_000003.11:g.43374875_43374879dup, NC_000003.11:g.43374874_43374879dup, NC_000003.11:g.43374873_43374879dup, NC_000003.11:g.43374872_43374879dup, NC_000003.11:g.43374870_43374879dup, NC_000003.11:g.43374869_43374879dup, NC_000003.11:g.43374868_43374879dup
5.
rs1491297171 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ATATATATATATATATATGTGTGTATATATATATATATAT,ATATATATATATATATGTGTGTATATATATATATATAT,ATATATATATATATGTGTATATATATATATATAT,ATATATATATGTATATATATATATATAT,ATATATATGTATATATATATATATAT,ATATATGTATATATATATATATAT
[Show Flanks]
- Chromosome:
- 3:43296416
(GRCh38)
3:43337909
(GRCh37)
- Canonical SPDI:
- NC_000003.12:43296416:TATATATATATATATAT:TATATATATATATATATATATATATATATATATATGTGTGTATATATATATATATAT,NC_000003.12:43296416:TATATATATATATATAT:TATATATATATATATATATATATATATATATATGTGTGTATATATATATATATAT,NC_000003.12:43296416:TATATATATATATATAT:TATATATATATATATATATATATATATATATGTGTATATATATATATATAT,NC_000003.12:43296416:TATATATATATATATAT:TATATATATATATATATATATATATATGTATATATATATATATAT,NC_000003.12:43296416:TATATATATATATATAT:TATATATATATATATATATATATATGTATATATATATATATAT,NC_000003.12:43296416:TATATATATATATATAT:TATATATATATATATATATATATGTATATATATATATATAT
- Gene:
- SNRK (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
TATATATATATATATATATATATATGTATATATATATATATAT=0./0
(
ALFA)
- HGVS:
NC_000003.12:g.43296417_43296433TA[17]TG[3]TA[8]T[1], NC_000003.12:g.43296417_43296433TA[16]TG[3]TA[8]T[1], NC_000003.12:g.43296417_43296433TA[15]TG[2]TA[8]T[1], NC_000003.12:g.43296417_43296433TA[13]TGTATATATATATATATAT[1], NC_000003.12:g.43296417_43296433TA[12]TGTATATATATATATATAT[1], NC_000003.12:g.43296417_43296433TA[11]TGTATATATATATATATAT[1], NC_000003.11:g.43337909_43337925TA[17]TG[3]TA[8]T[1], NC_000003.11:g.43337909_43337925TA[16]TG[3]TA[8]T[1], NC_000003.11:g.43337909_43337925TA[15]TG[2]TA[8]T[1], NC_000003.11:g.43337909_43337925TA[13]TGTATATATATATATATAT[1], NC_000003.11:g.43337909_43337925TA[12]TGTATATATATATATATAT[1], NC_000003.11:g.43337909_43337925TA[11]TGTATATATATATATATAT[1]
6.
rs1491262665 has merged into rs371078181 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ATATATATATATATAT>-,ATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT,ATATATATATATATATACATATATATATATATATATAT,ATATATATATATATATACATATATATATATATATATATAT,ATATATATATATATATAT,ATATATATATATATATATAT,ATATATATATATATATATATAT,ATATATATATATATATATATATAT,ATATATATATATATATATATATATAT,ATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATATGTATATATATATATATATATAT,ATATATATATATATATATATATATATATATATGTATATATATATATATATATATAT,ATATATATATATATATATATATATATATATATGTATATATATATATATATATATATATAT,ATATATATATATATATATATATATATATATGTATATATATATATATATATATAT,ATATATATATATATATATATATATATATATGTATATATATATATATATATATATAT,ATATATATATATATATATATATATATATGTATATATATATATATATATATAT,ATATATATATATATATATATATATATATGTATATATATATATATATATATATAT,ATATATATATATATATATATATATATGTATATATATATATATATATAT,ATATATATATATATATATATATATATGTATATATATATATATATATATAT,ATATATATATATATATATATATATATGTATATATATATATATATATATATAT,ATATATATATATATATATATATATATGTATATATATATATATATATATATATAT,ATATATATATATATATATATATATATGTATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATGTATATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATGTGTATATATATATATATATATAT,ATATATATATATATATATATATATATGTGTATATATATATATATATATATATAT,ATATATATATATATATATATATATATGTGTATATATATATATATATATATATATAT,ATATATATATATATATATATATATATGTGTATATATATATATATATATATATATATAT,ATATATATATATATATATATATATATGTGTATATATATATATATATATATATATATGTGTATATATATATATATATATATATAT,ATATATATATATATATATATATATGTATATATATATATATATAT,ATATATATATATATATATATATATGTATATATATATATATATATAT,ATATATATATATATATATATATATGTATATATATATATATATATATAT,ATATATATATATATATATATATATGTATATATATATATATATATATATAT,ATATATATATATATATATATATATGTATATATATATATATATATATATATAT,ATATATATATATATATATATATATGTATATATATATATATATATATATATATAT,ATATATATATATATATATATATATGTGTATATATATATATATATATATATAT,ATATATATATATATATATATATATGTGTATATATATATATATATATATATATAT,ATATATATATATATATATATATGTATATATATATATATATAT,ATATATATATATATATATATATGTATATATATATATATATATATAT,ATATATATATATATATATATATGTATATATATATATATATATATATAT,ATATATATATATATATATATGTATATATATATATATATATAT,ATATATATATATATATATATGTATATATATATATATATATATAT
[Show Flanks]
- Chromosome:
- 3:43296418
(GRCh38)
3:43337910
(GRCh37)
- Canonical SPDI:
- NC_000003.12:43296415:ATATATATATATATATAT:AT,NC_000003.12:43296415:ATATATATATATATATAT:ATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATATATACATATATATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATATATACATATATATATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATATATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATATATATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATATATATATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATATATATATATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATATATATATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATATATATATATATATATATATATGTATATATATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATATATATATATATATATATATGTATATATATATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATATATATATATATATATATATGTATATATATATATATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATATATATATATATATATATGTATATATATATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATATATATATATATATATATGTATATATATATATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATATATATATATATATATGTATATATATATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATATATATATATATATATGTATATATATATATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATATATATATATATATGTATATATATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATATATATATATATATGTATATATATATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATATATATATATATATGTATATATATATATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATATATATATATATATGTATATATATATATATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATATATATATATATATGTATATATATATATATATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATATATATATATATATGTATATATATATATATATATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATATATATATATATATGTGTATATATATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATATATATATATATATGTGTATATATATATATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATATATATATATATATGTGTATATATATATATATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATATATATATATATATGTGTATATATATATATATATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATATATATATATATATGTGTATATATATATATATATATATATATATGTGTATATATATATATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATATATATATATATGTATATATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATATATATATATATGTATATATATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATATATATATATATGTATATATATATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATATATATATATATGTATATATATATATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATATATATATATATGTATATATATATATATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATATATATATATATGTATATATATATATATATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATATATATATATATGTGTATATATATATATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATATATATATATATGTGTATATATATATATATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATATATATATATGTATATATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATATATATATATGTATATATATATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATATATATATATGTATATATATATATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATATATATATGTATATATATATATATATATAT,NC_000003.12:43296415:ATATATATATATATATAT:ATATATATATATATATATATATGTATATATATATATATATATATAT
- Gene:
- SNRK (Varview)
- Functional Consequence:
- upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
- HGVS:
NC_000003.12:g.43296416AT[1], NC_000003.12:g.43296416AT[3], NC_000003.12:g.43296416AT[6], NC_000003.12:g.43296416AT[7], NC_000003.12:g.43296416AT[8], NC_000003.12:g.43296416_43296433AT[9]ACATATATATATATATATATAT[1], NC_000003.12:g.43296416_43296433AT[9]ACATATATATATATATATATATAT[1], NC_000003.12:g.43296416AT[10], NC_000003.12:g.43296416AT[11], NC_000003.12:g.43296416AT[12], NC_000003.12:g.43296416AT[13], NC_000003.12:g.43296416AT[14], NC_000003.12:g.43296416AT[15], NC_000003.12:g.43296416AT[16], NC_000003.12:g.43296416AT[17], NC_000003.12:g.43296416AT[18], NC_000003.12:g.43296416AT[19], NC_000003.12:g.43296416AT[20], NC_000003.12:g.43296416AT[21], NC_000003.12:g.43296416AT[22], NC_000003.12:g.43296416AT[23], NC_000003.12:g.43296416AT[24], NC_000003.12:g.43296416AT[25], NC_000003.12:g.43296416AT[28], NC_000003.12:g.43296416_43296433AT[18]GTATATATATATATATATATAT[1], NC_000003.12:g.43296416_43296433AT[17]GTATATATATATATATATATATAT[1], NC_000003.12:g.43296416_43296433AT[17]GTATATATATATATATATATATATATAT[1], NC_000003.12:g.43296416_43296433AT[16]GTATATATATATATATATATATAT[1], NC_000003.12:g.43296416_43296433AT[16]GTATATATATATATATATATATATAT[1], NC_000003.12:g.43296416_43296433AT[15]GTATATATATATATATATATATAT[1], NC_000003.12:g.43296416_43296433AT[15]GTATATATATATATATATATATATAT[1], NC_000003.12:g.43296416_43296433AT[14]GTATATATATATATATATATAT[1], NC_000003.12:g.43296416_43296433AT[14]GTATATATATATATATATATATAT[1], NC_000003.12:g.43296416_43296433AT[14]GTATATATATATATATATATATATAT[1], NC_000003.12:g.43296416_43296433AT[14]GTATATATATATATATATATATATATAT[1], NC_000003.12:g.43296416_43296433AT[14]GTATATATATATATATATATATATATATAT[1], NC_000003.12:g.43296416_43296433AT[14]GTATATATATATATATATATATATATATATAT[1], NC_000003.12:g.43296416_43296433AT[14]GT[2]AT[10], NC_000003.12:g.43296416_43296433AT[14]GT[2]AT[12], NC_000003.12:g.43296416_43296433AT[14]GT[2]AT[13], NC_000003.12:g.43296416_43296433AT[14]GT[2]AT[14], NC_000003.12:g.43296416_43296433AT[14]GT[2]AT[13]GT[2]AT[12], NC_000003.12:g.43296416_43296433AT[13]GTATATATATATATATATAT[1], NC_000003.12:g.43296416_43296433AT[13]GTATATATATATATATATATAT[1], NC_000003.12:g.43296416_43296433AT[13]GTATATATATATATATATATATAT[1], NC_000003.12:g.43296416_43296433AT[13]GTATATATATATATATATATATATAT[1], NC_000003.12:g.43296416_43296433AT[13]GTATATATATATATATATATATATATAT[1], NC_000003.12:g.43296416_43296433AT[13]GTATATATATATATATATATATATATATAT[1], NC_000003.12:g.43296416_43296433AT[13]GT[2]AT[12], NC_000003.12:g.43296416_43296433AT[13]GT[2]AT[13], NC_000003.12:g.43296416_43296433AT[12]GTATATATATATATATATAT[1], NC_000003.12:g.43296416_43296433AT[12]GTATATATATATATATATATATAT[1], NC_000003.12:g.43296416_43296433AT[12]GTATATATATATATATATATATATAT[1], NC_000003.12:g.43296416_43296433AT[11]GTATATATATATATATATATAT[1], NC_000003.12:g.43296416_43296433AT[11]GTATATATATATATATATATATAT[1], NC_000003.11:g.43337908AT[1], NC_000003.11:g.43337908AT[3], NC_000003.11:g.43337908AT[6], NC_000003.11:g.43337908AT[7], NC_000003.11:g.43337908AT[8], NC_000003.11:g.43337908_43337925AT[9]ACATATATATATATATATATAT[1], NC_000003.11:g.43337908_43337925AT[9]ACATATATATATATATATATATAT[1], NC_000003.11:g.43337908AT[10], NC_000003.11:g.43337908AT[11], NC_000003.11:g.43337908AT[12], NC_000003.11:g.43337908AT[13], NC_000003.11:g.43337908AT[14], NC_000003.11:g.43337908AT[15], NC_000003.11:g.43337908AT[16], NC_000003.11:g.43337908AT[17], NC_000003.11:g.43337908AT[18], NC_000003.11:g.43337908AT[19], NC_000003.11:g.43337908AT[20], NC_000003.11:g.43337908AT[21], NC_000003.11:g.43337908AT[22], NC_000003.11:g.43337908AT[23], NC_000003.11:g.43337908AT[24], NC_000003.11:g.43337908AT[25], NC_000003.11:g.43337908AT[28], NC_000003.11:g.43337908_43337925AT[18]GTATATATATATATATATATAT[1], NC_000003.11:g.43337908_43337925AT[17]GTATATATATATATATATATATAT[1], NC_000003.11:g.43337908_43337925AT[17]GTATATATATATATATATATATATATAT[1], NC_000003.11:g.43337908_43337925AT[16]GTATATATATATATATATATATAT[1], NC_000003.11:g.43337908_43337925AT[16]GTATATATATATATATATATATATAT[1], NC_000003.11:g.43337908_43337925AT[15]GTATATATATATATATATATATAT[1], NC_000003.11:g.43337908_43337925AT[15]GTATATATATATATATATATATATAT[1], NC_000003.11:g.43337908_43337925AT[14]GTATATATATATATATATATAT[1], NC_000003.11:g.43337908_43337925AT[14]GTATATATATATATATATATATAT[1], NC_000003.11:g.43337908_43337925AT[14]GTATATATATATATATATATATATAT[1], NC_000003.11:g.43337908_43337925AT[14]GTATATATATATATATATATATATATAT[1], NC_000003.11:g.43337908_43337925AT[14]GTATATATATATATATATATATATATATAT[1], NC_000003.11:g.43337908_43337925AT[14]GTATATATATATATATATATATATATATATAT[1], NC_000003.11:g.43337908_43337925AT[14]GT[2]AT[10], NC_000003.11:g.43337908_43337925AT[14]GT[2]AT[12], NC_000003.11:g.43337908_43337925AT[14]GT[2]AT[13], NC_000003.11:g.43337908_43337925AT[14]GT[2]AT[14], NC_000003.11:g.43337908_43337925AT[14]GT[2]AT[13]GT[2]AT[12], NC_000003.11:g.43337908_43337925AT[13]GTATATATATATATATATAT[1], NC_000003.11:g.43337908_43337925AT[13]GTATATATATATATATATATAT[1], NC_000003.11:g.43337908_43337925AT[13]GTATATATATATATATATATATAT[1], NC_000003.11:g.43337908_43337925AT[13]GTATATATATATATATATATATATAT[1], NC_000003.11:g.43337908_43337925AT[13]GTATATATATATATATATATATATATAT[1], NC_000003.11:g.43337908_43337925AT[13]GTATATATATATATATATATATATATATAT[1], NC_000003.11:g.43337908_43337925AT[13]GT[2]AT[12], NC_000003.11:g.43337908_43337925AT[13]GT[2]AT[13], NC_000003.11:g.43337908_43337925AT[12]GTATATATATATATATATAT[1], NC_000003.11:g.43337908_43337925AT[12]GTATATATATATATATATATATAT[1], NC_000003.11:g.43337908_43337925AT[12]GTATATATATATATATATATATATAT[1], NC_000003.11:g.43337908_43337925AT[11]GTATATATATATATATATATAT[1], NC_000003.11:g.43337908_43337925AT[11]GTATATATATATATATATATATAT[1]
7.
rs1491213683 [Homo sapiens]- Variant type:
- DEL
- Alleles:
- CA>-
[Show Flanks]
- Chromosome:
- 3:43333358
(GRCh38)
3:43374850
(GRCh37)
- Canonical SPDI:
- NC_000003.12:43333357:CA:
- Gene:
- SNRK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
-=0.00126/15
(
ALFA)
-=0.0017/26
(TOMMO)
- HGVS:
8.
rs1491203786 has merged into rs34151308 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- CC>-,C,CCC,CCCC,CCCCC,CCCCCC,CCCCCCC
[Show Flanks]
- Chromosome:
- 3:43300617
(GRCh38)
3:43342109
(GRCh37)
- Canonical SPDI:
- NC_000003.12:43300608:CCCCCCCCCC:CCCCCCCC,NC_000003.12:43300608:CCCCCCCCCC:CCCCCCCCC,NC_000003.12:43300608:CCCCCCCCCC:CCCCCCCCCCC,NC_000003.12:43300608:CCCCCCCCCC:CCCCCCCCCCCC,NC_000003.12:43300608:CCCCCCCCCC:CCCCCCCCCCCCC,NC_000003.12:43300608:CCCCCCCCCC:CCCCCCCCCCCCCC,NC_000003.12:43300608:CCCCCCCCCC:CCCCCCCCCCCCCCC
- Gene:
- SNRK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
CCCCCCCCCCCCC=0./0
(
ALFA)
-=0.0304/117
(ALSPAC)
C=0.2079/1041
(1000Genomes)
- HGVS:
NC_000003.12:g.43300617_43300618del, NC_000003.12:g.43300618del, NC_000003.12:g.43300618dup, NC_000003.12:g.43300617_43300618dup, NC_000003.12:g.43300616_43300618dup, NC_000003.12:g.43300615_43300618dup, NC_000003.12:g.43300614_43300618dup, NC_000003.11:g.43342109_43342110del, NC_000003.11:g.43342110del, NC_000003.11:g.43342110dup, NC_000003.11:g.43342109_43342110dup, NC_000003.11:g.43342108_43342110dup, NC_000003.11:g.43342107_43342110dup, NC_000003.11:g.43342106_43342110dup
10.
rs1490962515 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- A>G
[Show Flanks]
- Chromosome:
- 3:43290570
(GRCh38)
3:43332062
(GRCh37)
- Canonical SPDI:
- NC_000003.12:43290569:A:G
- Gene:
- SNRK (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
G=0./0
(
ALFA)
G=0.000004/1
(TOPMED)
G=0.000014/2
(GnomAD)
- HGVS:
11.
rs1490897265 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:43313712
(GRCh38)
3:43355204
(GRCh37)
- Canonical SPDI:
- NC_000003.12:43313711:G:A
- Gene:
- SNRK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0.000071/1
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
12.
rs1490877913 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- C>A
[Show Flanks]
- Chromosome:
- 3:43347353
(GRCh38)
3:43388845
(GRCh37)
- Canonical SPDI:
- NC_000003.12:43347352:C:A
- Gene:
- SNRK (Varview), SNRK-AS1 (Varview)
- Functional Consequence:
- coding_sequence_variant,missense_variant,non_coding_transcript_variant
- Validated:
- by frequency
- MAF:
A=0.000005/1
(GnomAD_exomes)
- HGVS:
NC_000003.12:g.43347353C>A, NC_000003.11:g.43388845C>A, NM_017719.5:c.1094C>A, NM_017719.4:c.1094C>A, XM_005265245.4:c.1094C>A, XM_005265245.3:c.1094C>A, XM_005265245.2:c.1094C>A, XM_005265245.1:c.1094C>A, NM_001100594.2:c.1094C>A, NM_001100594.1:c.1094C>A, NM_001330750.2:c.476C>A, NM_001330750.1:c.476C>A, XM_047448398.1:c.1094C>A, XM_047448396.1:c.1094C>A, XM_047448397.1:c.1094C>A, NR_046757.1:n.3041G>T, NP_060189.3:p.Thr365Asn, XP_005265302.1:p.Thr365Asn, NP_001094064.1:p.Thr365Asn, NP_001317679.1:p.Thr159Asn, XP_047304354.1:p.Thr365Asn, XP_047304352.1:p.Thr365Asn, XP_047304353.1:p.Thr365Asn
13.
rs1490839913 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- T>A,C
[Show Flanks]
- Chromosome:
- 3:43309160
(GRCh38)
3:43350652
(GRCh37)
- Canonical SPDI:
- NC_000003.12:43309159:T:A,NC_000003.12:43309159:T:C
- Gene:
- SNRK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000029/4
(GnomAD)
A=0.000071/1
(TOMMO)
- HGVS:
14.
rs1490716207 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->ATATGTATATATATATAT
[Show Flanks]
- Chromosome:
- 3:43296420
(GRCh38)
3:43337913
(GRCh37)
- Canonical SPDI:
- NC_000003.12:43296420:TATATATATATAT:TATATATATATATATATGTATATATATATAT
- Gene:
- SNRK (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa
- MAF:
TATATATATATATATATGTATATATATATAT=0./0
(
ALFA)
TATATATATATATATATG=0.000004/1
(TOPMED)
- HGVS:
15.
rs1490697271 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:43351310
(GRCh38)
3:43392802
(GRCh37)
- Canonical SPDI:
- NC_000003.12:43351309:G:A
- Gene:
- SNRK (Varview), SNRK-AS1 (Varview)
- Functional Consequence:
- intron_variant,downstream_transcript_variant,500B_downstream_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
A=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000007/1
(GnomAD)
- HGVS:
18.
rs1490495665 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A
[Show Flanks]
- Chromosome:
- 3:43296751
(GRCh38)
3:43338243
(GRCh37)
- Canonical SPDI:
- NC_000003.12:43296750:G:A
- Gene:
- SNRK (Varview)
- Functional Consequence:
- intron_variant,upstream_transcript_variant,genic_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:
19.
rs1490489232 [Homo sapiens]- Variant type:
- SNV
- Alleles:
- G>A,C
[Show Flanks]
- Chromosome:
- 3:43287039
(GRCh38)
3:43328531
(GRCh37)
- Canonical SPDI:
- NC_000003.12:43287038:G:A,NC_000003.12:43287038:G:C
- Gene:
- SNRK (Varview)
- Functional Consequence:
- intron_variant,genic_upstream_transcript_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
C=0./0
(
ALFA)
C=0.000008/2
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS:
20.
rs1490440894 [Homo sapiens]- Variant type:
- DELINS
- Alleles:
- ->A
[Show Flanks]
- Chromosome:
- 3:43325120
(GRCh38)
3:43366613
(GRCh37)
- Canonical SPDI:
- NC_000003.12:43325120:A:AA
- Gene:
- SNRK (Varview)
- Functional Consequence:
- intron_variant
- Validated:
- by frequency,by alfa,by cluster
- MAF:
AA=0./0
(
ALFA)
A=0.000004/1
(TOPMED)
A=0.000014/2
(GnomAD)
- HGVS: