SNP Links for Gene (Select 133686) - SNP

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Select item 14912609311.

rs1491260931 has merged into rs869174817 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,AA,AAA [Show Flanks]
Chromosome:: 5:36235909 (GRCh38)
5:36236011 (GRCh37)
Canonical SPDI:: NC_000005.10:36235906:AAAAAA:AA,NC_000005.10:36235906:AAAAAA:AAAA,NC_000005.10:36235906:AAAAAA:AAAAA
Gene:: NADK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.00124/21 (TOMMO)
-=0.00722/13 (Korea1K)
HGVS:: NC_000005.10:g.36235909_36235912del, NC_000005.10:g.36235911_36235912del, NC_000005.10:g.36235912del, NC_000005.9:g.36236011_36236014del, NC_000005.9:g.36236013_36236014del, NC_000005.9:g.36236014del, NG_041784.1:g.11370_11373del, NG_041784.1:g.11372_11373del, NG_041784.1:g.11373del

Select item 14912517312.

rs1491251731 has merged into rs10551356 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:36234384 (GRCh38)
5:36234486 (GRCh37)
Canonical SPDI:: NC_000005.10:36234372:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:36234372:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:36234372:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:36234372:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:36234372:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:36234372:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:36234372:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:36234372:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:36234372:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:36234372:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:36234372:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:36234372:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:36234372:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:36234372:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:36234372:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:36234372:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:36234372:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:36234372:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:36234372:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NADK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.000034/9 (TOPMED)
-=0.35/14 (GENOME_DK)
-=0.365815/1832 (1000Genomes)
HGVS:: NC_000005.10:g.36234384_36234396del, NC_000005.10:g.36234385_36234396del, NC_000005.10:g.36234386_36234396del, NC_000005.10:g.36234388_36234396del, NC_000005.10:g.36234389_36234396del, NC_000005.10:g.36234390_36234396del, NC_000005.10:g.36234391_36234396del, NC_000005.10:g.36234392_36234396del, NC_000005.10:g.36234393_36234396del, NC_000005.10:g.36234394_36234396del, NC_000005.10:g.36234395_36234396del, NC_000005.10:g.36234396del, NC_000005.10:g.36234396dup, NC_000005.10:g.36234395_36234396dup, NC_000005.10:g.36234394_36234396dup, NC_000005.10:g.36234393_36234396dup, NC_000005.10:g.36234392_36234396dup, NC_000005.10:g.36234391_36234396dup, NC_000005.10:g.36234390_36234396dup, NC_000005.9:g.36234486_36234498del, NC_000005.9:g.36234487_36234498del, NC_000005.9:g.36234488_36234498del, NC_000005.9:g.36234490_36234498del, NC_000005.9:g.36234491_36234498del, NC_000005.9:g.36234492_36234498del, NC_000005.9:g.36234493_36234498del, NC_000005.9:g.36234494_36234498del, NC_000005.9:g.36234495_36234498del, NC_000005.9:g.36234496_36234498del, NC_000005.9:g.36234497_36234498del, NC_000005.9:g.36234498del, NC_000005.9:g.36234498dup, NC_000005.9:g.36234497_36234498dup, NC_000005.9:g.36234496_36234498dup, NC_000005.9:g.36234495_36234498dup, NC_000005.9:g.36234494_36234498dup, NC_000005.9:g.36234493_36234498dup, NC_000005.9:g.36234492_36234498dup, NG_041784.1:g.12895_12907del, NG_041784.1:g.12896_12907del, NG_041784.1:g.12897_12907del, NG_041784.1:g.12899_12907del, NG_041784.1:g.12900_12907del, NG_041784.1:g.12901_12907del, NG_041784.1:g.12902_12907del, NG_041784.1:g.12903_12907del, NG_041784.1:g.12904_12907del, NG_041784.1:g.12905_12907del, NG_041784.1:g.12906_12907del, NG_041784.1:g.12907del, NG_041784.1:g.12907dup, NG_041784.1:g.12906_12907dup, NG_041784.1:g.12905_12907dup, NG_041784.1:g.12904_12907dup, NG_041784.1:g.12903_12907dup, NG_041784.1:g.12902_12907dup, NG_041784.1:g.12901_12907dup

Select item 14912300813.

rs1491230081 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:36234372 (GRCh38)
5:36234474 (GRCh37)
Canonical SPDI:: NC_000005.10:36234371:CA:
Gene:: NADK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.0016/19 (ALFA)
HGVS:: NC_000005.10:g.36234372_36234373del, NC_000005.9:g.36234474_36234475del, NG_041784.1:g.12907_12908del

Select item 14910366384.

rs1491036638 has merged into rs34062296 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT [Show Flanks]
Chromosome:: 5:36228792 (GRCh38)
5:36228894 (GRCh37)
Canonical SPDI:: NC_000005.10:36228789:TTTT:TT,NC_000005.10:36228789:TTTT:TTT,NC_000005.10:36228789:TTTT:TTTTT,NC_000005.10:36228789:TTTT:TTTTTT,NC_000005.10:36228789:TTTT:TTTTTTT,NC_000005.10:36228789:TTTT:TTTTTTTTTT,NC_000005.10:36228789:TTTT:TTTTTTTTTTT,NC_000005.10:36228789:TTTT:TTTTTTTTTTTT
Gene:: NADK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
T=0.3/12 (GENOME_DK)
T=0.375/3 (KOREAN)
HGVS:: NC_000005.10:g.36228792_36228793del, NC_000005.10:g.36228793del, NC_000005.10:g.36228793dup, NC_000005.10:g.36228792_36228793dup, NC_000005.10:g.36228791_36228793dup, NC_000005.10:g.36228793_36228794insTTTTTT, NC_000005.10:g.36228793_36228794insTTTTTTT, NC_000005.10:g.36228793_36228794insTTTTTTTT, NC_000005.9:g.36228894_36228895del, NC_000005.9:g.36228895del, NC_000005.9:g.36228895dup, NC_000005.9:g.36228894_36228895dup, NC_000005.9:g.36228893_36228895dup, NC_000005.9:g.36228895_36228896insTTTTTT, NC_000005.9:g.36228895_36228896insTTTTTTT, NC_000005.9:g.36228895_36228896insTTTTTTTT, NG_041784.1:g.18489_18490del, NG_041784.1:g.18490del, NG_041784.1:g.18490dup, NG_041784.1:g.18489_18490dup, NG_041784.1:g.18488_18490dup, NG_041784.1:g.18490_18491insAAAAAA, NG_041784.1:g.18490_18491insAAAAAAA, NG_041784.1:g.18490_18491insAAAAAAAA

Select item 14910186285.

rs1491018628 has merged into rs35678845 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:36193483 (GRCh38)
5:36193585 (GRCh37)
Canonical SPDI:: NC_000005.10:36193474:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000005.10:36193474:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:36193474:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:36193474:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:36193474:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:36193474:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:36193474:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:36193474:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:36193474:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:36193474:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:36193474:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:36193474:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:36193474:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:36193474:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:36193474:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SKP2 (Varview), NADK2 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.000015/4 (TOPMED)
A=0.022963/115 (1000Genomes)
AA=0.475/19 (GENOME_DK)
HGVS:: NC_000005.10:g.36193483_36193495del, NC_000005.10:g.36193485_36193495del, NC_000005.10:g.36193486_36193495del, NC_000005.10:g.36193487_36193495del, NC_000005.10:g.36193489_36193495del, NC_000005.10:g.36193491_36193495del, NC_000005.10:g.36193492_36193495del, NC_000005.10:g.36193494_36193495del, NC_000005.10:g.36193495del, NC_000005.10:g.36193495dup, NC_000005.10:g.36193494_36193495dup, NC_000005.10:g.36193493_36193495dup, NC_000005.10:g.36193492_36193495dup, NC_000005.10:g.36193491_36193495dup, NC_000005.10:g.36193490_36193495dup, NC_000005.9:g.36193585_36193597del, NC_000005.9:g.36193587_36193597del, NC_000005.9:g.36193588_36193597del, NC_000005.9:g.36193589_36193597del, NC_000005.9:g.36193591_36193597del, NC_000005.9:g.36193593_36193597del, NC_000005.9:g.36193594_36193597del, NC_000005.9:g.36193596_36193597del, NC_000005.9:g.36193597del, NC_000005.9:g.36193597dup, NC_000005.9:g.36193596_36193597dup, NC_000005.9:g.36193595_36193597dup, NC_000005.9:g.36193594_36193597dup, NC_000005.9:g.36193593_36193597dup, NC_000005.9:g.36193592_36193597dup, NG_041784.1:g.53793_53805del, NG_041784.1:g.53795_53805del, NG_041784.1:g.53796_53805del, NG_041784.1:g.53797_53805del, NG_041784.1:g.53799_53805del, NG_041784.1:g.53801_53805del, NG_041784.1:g.53802_53805del, NG_041784.1:g.53804_53805del, NG_041784.1:g.53805del, NG_041784.1:g.53805dup, NG_041784.1:g.53804_53805dup, NG_041784.1:g.53803_53805dup, NG_041784.1:g.53802_53805dup, NG_041784.1:g.53801_53805dup, NG_041784.1:g.53800_53805dup, NM_153013.5:c.*1657_*1669del, NM_153013.5:c.*1659_*1669del, NM_153013.5:c.*1660_*1669del, NM_153013.5:c.*1661_*1669del, NM_153013.5:c.*1663_*1669del, NM_153013.5:c.*1665_*1669del, NM_153013.5:c.*1666_*1669del, NM_153013.5:c.*1668_*1669del, NM_153013.5:c.*1669del, NM_153013.5:c.*1669dup, NM_153013.5:c.*1668_*1669dup, NM_153013.5:c.*1667_*1669dup, NM_153013.5:c.*1666_*1669dup, NM_153013.5:c.*1665_*1669dup, NM_153013.5:c.*1664_*1669dup, NM_153013.4:c.*1657_*1669del, NM_153013.4:c.*1659_*1669del, NM_153013.4:c.*1660_*1669del, NM_153013.4:c.*1661_*1669del, NM_153013.4:c.*1663_*1669del, NM_153013.4:c.*1665_*1669del, NM_153013.4:c.*1666_*1669del, NM_153013.4:c.*1668_*1669del, NM_153013.4:c.*1669del, NM_153013.4:c.*1669dup, NM_153013.4:c.*1668_*1669dup, NM_153013.4:c.*1667_*1669dup, NM_153013.4:c.*1666_*1669dup, NM_153013.4:c.*1665_*1669dup, NM_153013.4:c.*1664_*1669dup, NM_153013.3:c.*1657_*1669del, NM_153013.3:c.*1659_*1669del, NM_153013.3:c.*1660_*1669del, NM_153013.3:c.*1661_*1669del, NM_153013.3:c.*1663_*1669del, NM_153013.3:c.*1665_*1669del, NM_153013.3:c.*1666_*1669del, NM_153013.3:c.*1668_*1669del, NM_153013.3:c.*1669del, NM_153013.3:c.*1669dup, NM_153013.3:c.*1668_*1669dup, NM_153013.3:c.*1667_*1669dup, NM_153013.3:c.*1666_*1669dup, NM_153013.3:c.*1665_*1669dup, NM_153013.3:c.*1664_*1669dup, NM_001085411.3:c.*1657_*1669del, NM_001085411.3:c.*1659_*1669del, NM_001085411.3:c.*1660_*1669del, NM_001085411.3:c.*1661_*1669del, NM_001085411.3:c.*1663_*1669del, NM_001085411.3:c.*1665_*1669del, NM_001085411.3:c.*1666_*1669del, NM_001085411.3:c.*1668_*1669del, NM_001085411.3:c.*1669del, NM_001085411.3:c.*1669dup, NM_001085411.3:c.*1668_*1669dup, NM_001085411.3:c.*1667_*1669dup, NM_001085411.3:c.*1666_*1669dup, NM_001085411.3:c.*1665_*1669dup, NM_001085411.3:c.*1664_*1669dup, NM_001085411.2:c.*1657_*1669del, NM_001085411.2:c.*1659_*1669del, NM_001085411.2:c.*1660_*1669del, NM_001085411.2:c.*1661_*1669del, NM_001085411.2:c.*1663_*1669del, NM_001085411.2:c.*1665_*1669del, NM_001085411.2:c.*1666_*1669del, NM_001085411.2:c.*1668_*1669del, NM_001085411.2:c.*1669del, NM_001085411.2:c.*1669dup, NM_001085411.2:c.*1668_*1669dup, NM_001085411.2:c.*1667_*1669dup, NM_001085411.2:c.*1666_*1669dup, NM_001085411.2:c.*1665_*1669dup, NM_001085411.2:c.*1664_*1669dup, NM_001085411.1:c.*1657_*1669del, NM_001085411.1:c.*1659_*1669del, NM_001085411.1:c.*1660_*1669del, NM_001085411.1:c.*1661_*1669del, NM_001085411.1:c.*1663_*1669del, NM_001085411.1:c.*1665_*1669del, NM_001085411.1:c.*1666_*1669del, NM_001085411.1:c.*1668_*1669del, NM_001085411.1:c.*1669del, NM_001085411.1:c.*1669dup, NM_001085411.1:c.*1668_*1669dup, NM_001085411.1:c.*1667_*1669dup, NM_001085411.1:c.*1666_*1669dup, NM_001085411.1:c.*1665_*1669dup, NM_001085411.1:c.*1664_*1669dup, NM_001287341.2:c.*1657_*1669del, NM_001287341.2:c.*1659_*1669del, NM_001287341.2:c.*1660_*1669del, NM_001287341.2:c.*1661_*1669del, NM_001287341.2:c.*1663_*1669del, NM_001287341.2:c.*1665_*1669del, NM_001287341.2:c.*1666_*1669del, NM_001287341.2:c.*1668_*1669del, NM_001287341.2:c.*1669del, NM_001287341.2:c.*1669dup, NM_001287341.2:c.*1668_*1669dup, NM_001287341.2:c.*1667_*1669dup, NM_001287341.2:c.*1666_*1669dup, NM_001287341.2:c.*1665_*1669dup, NM_001287341.2:c.*1664_*1669dup, NM_001287341.1:c.*1657_*1669del, NM_001287341.1:c.*1659_*1669del, NM_001287341.1:c.*1660_*1669del, NM_001287341.1:c.*1661_*1669del, NM_001287341.1:c.*1663_*1669del, NM_001287341.1:c.*1665_*1669del, NM_001287341.1:c.*1666_*1669del, NM_001287341.1:c.*1668_*1669del, NM_001287341.1:c.*1669del, NM_001287341.1:c.*1669dup, NM_001287341.1:c.*1668_*1669dup, NM_001287341.1:c.*1667_*1669dup, NM_001287341.1:c.*1666_*1669dup, NM_001287341.1:c.*1665_*1669dup, NM_001287341.1:c.*1664_*1669dup, NM_001287340.2:c.*1657_*1669del, NM_001287340.2:c.*1659_*1669del, NM_001287340.2:c.*1660_*1669del, NM_001287340.2:c.*1661_*1669del, NM_001287340.2:c.*1663_*1669del, NM_001287340.2:c.*1665_*1669del, NM_001287340.2:c.*1666_*1669del, NM_001287340.2:c.*1668_*1669del, NM_001287340.2:c.*1669del, NM_001287340.2:c.*1669dup, NM_001287340.2:c.*1668_*1669dup, NM_001287340.2:c.*1667_*1669dup, NM_001287340.2:c.*1666_*1669dup, NM_001287340.2:c.*1665_*1669dup, NM_001287340.2:c.*1664_*1669dup, NM_001287340.1:c.*1657_*1669del, NM_001287340.1:c.*1659_*1669del, NM_001287340.1:c.*1660_*1669del, NM_001287340.1:c.*1661_*1669del, NM_001287340.1:c.*1663_*1669del, NM_001287340.1:c.*1665_*1669del, NM_001287340.1:c.*1666_*1669del, NM_001287340.1:c.*1668_*1669del, NM_001287340.1:c.*1669del, NM_001287340.1:c.*1669dup, NM_001287340.1:c.*1668_*1669dup, NM_001287340.1:c.*1667_*1669dup, NM_001287340.1:c.*1666_*1669dup, NM_001287340.1:c.*1665_*1669dup, NM_001287340.1:c.*1664_*1669dup, XM_005248241.5:c.*1657_*1669del, XM_005248241.5:c.*1659_*1669del, XM_005248241.5:c.*1660_*1669del, XM_005248241.5:c.*1661_*1669del, XM_005248241.5:c.*1663_*1669del, XM_005248241.5:c.*1665_*1669del, XM_005248241.5:c.*1666_*1669del, XM_005248241.5:c.*1668_*1669del, XM_005248241.5:c.*1669del, XM_005248241.5:c.*1669dup, XM_005248241.5:c.*1668_*1669dup, XM_005248241.5:c.*1667_*1669dup, XM_005248241.5:c.*1666_*1669dup, XM_005248241.5:c.*1665_*1669dup, XM_005248241.5:c.*1664_*1669dup, XM_005248241.4:c.*1657_*1669del, XM_005248241.4:c.*1659_*1669del, XM_005248241.4:c.*1660_*1669del, XM_005248241.4:c.*1661_*1669del, XM_005248241.4:c.*1663_*1669del, XM_005248241.4:c.*1665_*1669del, XM_005248241.4:c.*1666_*1669del, XM_005248241.4:c.*1668_*1669del, XM_005248241.4:c.*1669del, XM_005248241.4:c.*1669dup, XM_005248241.4:c.*1668_*1669dup, XM_005248241.4:c.*1667_*1669dup, XM_005248241.4:c.*1666_*1669dup, XM_005248241.4:c.*1665_*1669dup, XM_005248241.4:c.*1664_*1669dup, XM_005248241.3:c.*1657_*1669del, XM_005248241.3:c.*1659_*1669del, XM_005248241.3:c.*1660_*1669del, XM_005248241.3:c.*1661_*1669del, XM_005248241.3:c.*1663_*1669del, XM_005248241.3:c.*1665_*1669del, XM_005248241.3:c.*1666_*1669del, XM_005248241.3:c.*1668_*1669del, XM_005248241.3:c.*1669del, XM_005248241.3:c.*1669dup, XM_005248241.3:c.*1668_*1669dup, XM_005248241.3:c.*1667_*1669dup, XM_005248241.3:c.*1666_*1669dup, XM_005248241.3:c.*1665_*1669dup, XM_005248241.3:c.*1664_*1669dup, XM_005248241.2:c.*1657_*1669del, XM_005248241.2:c.*1659_*1669del, XM_005248241.2:c.*1660_*1669del, XM_005248241.2:c.*1661_*1669del, XM_005248241.2:c.*1663_*1669del, XM_005248241.2:c.*1665_*1669del, XM_005248241.2:c.*1666_*1669del, XM_005248241.2:c.*1668_*1669del, XM_005248241.2:c.*1669del, XM_005248241.2:c.*1669dup, XM_005248241.2:c.*1668_*1669dup, XM_005248241.2:c.*1667_*1669dup, XM_005248241.2:c.*1666_*1669dup, XM_005248241.2:c.*1665_*1669dup, XM_005248241.2:c.*1664_*1669dup, XM_005248241.1:c.*1657_*1669del, XM_005248241.1:c.*1659_*1669del, XM_005248241.1:c.*1660_*1669del, XM_005248241.1:c.*1661_*1669del, XM_005248241.1:c.*1663_*1669del, XM_005248241.1:c.*1665_*1669del, XM_005248241.1:c.*1666_*1669del, XM_005248241.1:c.*1668_*1669del, XM_005248241.1:c.*1669del, XM_005248241.1:c.*1669dup, XM_005248241.1:c.*1668_*1669dup, XM_005248241.1:c.*1667_*1669dup, XM_005248241.1:c.*1666_*1669dup, XM_005248241.1:c.*1665_*1669dup, XM_005248241.1:c.*1664_*1669dup, XM_024454360.2:c.*1657_*1669del, XM_024454360.2:c.*1659_*1669del, XM_024454360.2:c.*1660_*1669del, XM_024454360.2:c.*1661_*1669del, XM_024454360.2:c.*1663_*1669del, XM_024454360.2:c.*1665_*1669del, XM_024454360.2:c.*1666_*1669del, XM_024454360.2:c.*1668_*1669del, XM_024454360.2:c.*1669del, XM_024454360.2:c.*1669dup, XM_024454360.2:c.*1668_*1669dup, XM_024454360.2:c.*1667_*1669dup, XM_024454360.2:c.*1666_*1669dup, XM_024454360.2:c.*1665_*1669dup, XM_024454360.2:c.*1664_*1669dup, XM_024454360.1:c.*1657_*1669del, XM_024454360.1:c.*1659_*1669del, XM_024454360.1:c.*1660_*1669del, XM_024454360.1:c.*1661_*1669del, XM_024454360.1:c.*1663_*1669del, XM_024454360.1:c.*1665_*1669del, XM_024454360.1:c.*1666_*1669del, XM_024454360.1:c.*1668_*1669del, XM_024454360.1:c.*1669del, XM_024454360.1:c.*1669dup, XM_024454360.1:c.*1668_*1669dup, XM_024454360.1:c.*1667_*1669dup, XM_024454360.1:c.*1666_*1669dup, XM_024454360.1:c.*1665_*1669dup, XM_024454360.1:c.*1664_*1669dup, XM_047416705.1:c.*1657_*1669del, XM_047416705.1:c.*1659_*1669del, XM_047416705.1:c.*1660_*1669del, XM_047416705.1:c.*1661_*1669del, XM_047416705.1:c.*1663_*1669del, XM_047416705.1:c.*1665_*1669del, XM_047416705.1:c.*1666_*1669del, XM_047416705.1:c.*1668_*1669del, XM_047416705.1:c.*1669del, XM_047416705.1:c.*1669dup, XM_047416705.1:c.*1668_*1669dup, XM_047416705.1:c.*1667_*1669dup, XM_047416705.1:c.*1666_*1669dup, XM_047416705.1:c.*1665_*1669dup, XM_047416705.1:c.*1664_*1669dup, XM_047416706.1:c.*1657_*1669del, XM_047416706.1:c.*1659_*1669del, XM_047416706.1:c.*1660_*1669del, XM_047416706.1:c.*1661_*1669del, XM_047416706.1:c.*1663_*1669del, XM_047416706.1:c.*1665_*1669del, XM_047416706.1:c.*1666_*1669del, XM_047416706.1:c.*1668_*1669del, XM_047416706.1:c.*1669del, XM_047416706.1:c.*1669dup, XM_047416706.1:c.*1668_*1669dup, XM_047416706.1:c.*1667_*1669dup, XM_047416706.1:c.*1666_*1669dup, XM_047416706.1:c.*1665_*1669dup, XM_047416706.1:c.*1664_*1669dup, XM_047417536.1:c.*784_*796del, XM_047417536.1:c.*786_*796del, XM_047417536.1:c.*787_*796del, XM_047417536.1:c.*788_*796del, XM_047417536.1:c.*790_*796del, XM_047417536.1:c.*792_*796del, XM_047417536.1:c.*793_*796del, XM_047417536.1:c.*795_*796del, XM_047417536.1:c.*796del, XM_047417536.1:c.*796dup, XM_047417536.1:c.*795_*796dup, XM_047417536.1:c.*794_*796dup, XM_047417536.1:c.*793_*796dup, XM_047417536.1:c.*792_*796dup, XM_047417536.1:c.*791_*796dup

Select item 14909202206.

rs1490920220 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:36192257 (GRCh38)
5:36192359 (GRCh37)
Canonical SPDI:: NC_000005.10:36192256:A:G
Gene:: SKP2 (Varview), NADK2 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000071/1 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.36192257A>G, NC_000005.9:g.36192359A>G, NG_041784.1:g.55023T>C

Select item 14909192317.

rs1490919231 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:36237375 (GRCh38)
5:36237477 (GRCh37)
Canonical SPDI:: NC_000005.10:36237374:T:C
Gene:: NADK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.36237375T>C, NC_000005.9:g.36237477T>C, NG_041784.1:g.9905A>G

Select item 14908555708.

rs1490855570 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:36230559 (GRCh38)
5:36230661 (GRCh37)
Canonical SPDI:: NC_000005.10:36230558:C:T
Gene:: NADK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.36230559C>T, NC_000005.9:g.36230661C>T, NG_041784.1:g.16721G>A

Select item 14908100129.

rs1490810012 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:36233488 (GRCh38)
5:36233590 (GRCh37)
Canonical SPDI:: NC_000005.10:36233487:T:C
Gene:: NADK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.36233488T>C, NC_000005.9:g.36233590T>C, NG_041784.1:g.13792A>G

Select item 149069102510.

rs1490691025 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 5:36212015 (GRCh38)
5:36212117 (GRCh37)
Canonical SPDI:: NC_000005.10:36212014:T:C
Gene:: NADK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.36212015T>C, NC_000005.9:g.36212117T>C, NG_041784.1:g.35265A>G

Select item 149065008611.

rs1490650086 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACA>- [Show Flanks]
Chromosome:: 5:36210498 (GRCh38)
5:36210600 (GRCh37)
Canonical SPDI:: NC_000005.10:36210494:ACAACA:ACA
Gene:: NADK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACAACA=0.000264/4 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000029/4 (GnomAD)
-=0.000893/4 (Estonian)
HGVS:: NC_000005.10:g.36210495ACA[1], NC_000005.9:g.36210597ACA[1], NG_041784.1:g.36780TGT[1]

Select item 149063673912.

rs1490636739 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 5:36201107 (GRCh38)
5:36201209 (GRCh37)
Canonical SPDI:: NC_000005.10:36201106:A:G,NC_000005.10:36201106:A:T
Gene:: NADK2 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.0001/1 (ALFA)
HGVS:: NC_000005.10:g.36201107A>G, NC_000005.10:g.36201107A>T, NC_000005.9:g.36201209A>G, NC_000005.9:g.36201209A>T, NG_041784.1:g.46173T>C, NG_041784.1:g.46173T>A, NM_153013.5:c.522T>C, NM_153013.5:c.522T>A, NM_153013.4:c.522T>C, NM_153013.4:c.522T>A, NM_153013.3:c.522T>C, NM_153013.3:c.522T>A, NM_001085411.3:c.1011T>C, NM_001085411.3:c.1011T>A, NM_001085411.2:c.1011T>C, NM_001085411.2:c.1011T>A, NM_001085411.1:c.1011T>C, NM_001085411.1:c.1011T>A, NM_001287341.2:c.588T>C, NM_001287341.2:c.588T>A, NM_001287341.1:c.588T>C, NM_001287341.1:c.588T>A, NM_001287340.2:c.522T>C, NM_001287340.2:c.522T>A, NM_001287340.1:c.522T>C, NM_001287340.1:c.522T>A, XM_005248241.5:c.1077T>C, XM_005248241.5:c.1077T>A, XM_005248241.4:c.1077T>C, XM_005248241.4:c.1077T>A, XM_005248241.3:c.1077T>C, XM_005248241.3:c.1077T>A, XM_005248241.2:c.1077T>C, XM_005248241.2:c.1077T>A, XM_005248241.1:c.1077T>C, XM_005248241.1:c.1077T>A, XM_024454360.2:c.588T>C, XM_024454360.2:c.588T>A, XM_024454360.1:c.588T>C, XM_024454360.1:c.588T>A, XM_047416705.1:c.588T>C, XM_047416705.1:c.588T>A, XM_047416706.1:c.522T>C, XM_047416706.1:c.522T>A

Select item 149059861013.

rs1490598610 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 5:36204521 (GRCh38)
5:36204623 (GRCh37)
Canonical SPDI:: NC_000005.10:36204520:T:C,NC_000005.10:36204520:T:G
Gene:: NADK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.36204521T>C, NC_000005.10:g.36204521T>G, NC_000005.9:g.36204623T>C, NC_000005.9:g.36204623T>G, NG_041784.1:g.42759A>G, NG_041784.1:g.42759A>C

Select item 149039697714.

rs1490396977 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:36222285 (GRCh38)
5:36222387 (GRCh37)
Canonical SPDI:: NC_000005.10:36222284:G:A
Gene:: NADK2 (Varview), NADK2-AS1 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000019/5 (TOPMED)
A=0.000029/4 (GnomAD)
HGVS:: NC_000005.10:g.36222285G>A, NC_000005.9:g.36222387G>A, NG_041784.1:g.24995C>T

Select item 149038149115.

rs1490381491 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:36234318 (GRCh38)
5:36234420 (GRCh37)
Canonical SPDI:: NC_000005.10:36234317:A:G
Gene:: NADK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000023/3 (GnomAD)
HGVS:: NC_000005.10:g.36234318A>G, NC_000005.9:g.36234420A>G, NG_041784.1:g.12962T>C

Select item 149036904416.

rs1490369044 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:36239066 (GRCh38)
5:36239168 (GRCh37)
Canonical SPDI:: NC_000005.10:36239065:C:A
Gene:: NADK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.36239066C>A, NC_000005.9:g.36239168C>A, NG_041784.1:g.8214G>T

Select item 149033688417.

rs1490336884 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 5:36207899 (GRCh38)
5:36208001 (GRCh37)
Canonical SPDI:: NC_000005.10:36207898:C:G
Gene:: NADK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.36207899C>G, NC_000005.9:g.36208001C>G, NG_041784.1:g.39381G>C

Select item 149023387318.

rs1490233873 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:36202390 (GRCh38)
5:36202492 (GRCh37)
Canonical SPDI:: NC_000005.10:36202389:A:T
Gene:: NADK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.36202390A>T, NC_000005.9:g.36202492A>T, NG_041784.1:g.44890T>A

Select item 149010224119.

rs1490102241 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 5:36236939 (GRCh38)
5:36237041 (GRCh37)
Canonical SPDI:: NC_000005.10:36236938:G:
Gene:: NADK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.36236939del, NC_000005.9:g.36237041del, NG_041784.1:g.10341del

Select item 148999190120.

rs1489991901 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 5:36232035 (GRCh38)
5:36232137 (GRCh37)
Canonical SPDI:: NC_000005.10:36232034:G:T
Gene:: NADK2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000026/7 (TOPMED)
T=0.000312/2 (1000Genomes)
T=0.000342/1 (KOREAN)
HGVS:: NC_000005.10:g.36232035G>T, NC_000005.9:g.36232137G>T, NG_041784.1:g.15245C>A

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