SNP Links for Nucleotide (Select 239787850) - SNP

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Select item 14915334411.

rs1491533441 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->TTA
Chromosome:: no mapping
Canonical SPDI:

Select item 14915243372.

rs1491524337 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 14:103694269 (GRCh38)
14:104160606 (GRCh37)
Canonical SPDI:: NC_000014.9:103694268:TG:
Gene:: KLC1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000014.9:g.103694269_103694270del, NC_000014.8:g.104160606_104160607del, NG_012307.1:g.70082_70083del, NM_001394833.1:c.*651_*652del, NM_001394835.1:c.*651_*652del, NM_001394838.1:c.*651_*652del, NM_001394841.1:c.*651_*652del, NM_001394845.1:c.*680_*681del, NM_001394847.1:c.*680_*681del, NM_001394854.1:c.*751_*752del, NM_001394859.1:c.*751_*752del, NM_001394853.1:c.*651_*652del

Select item 14915105723.

rs1491510572 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 14:103664843 (GRCh38)
14:104131180 (GRCh37)
Canonical SPDI:: NC_000014.9:103664842:TA:
Gene:: KLC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00076/9 (ALFA)
HGVS:: NC_000014.9:g.103664843_103664844del, NC_000014.8:g.104131180_104131181del, NG_012307.1:g.40656_40657del

Select item 14914955804.

rs1491495580 has merged into rs145644634 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATATATAT>-,ATAT,ATATAT,ATATATATAT,ATATATATATAT,ATATATATATATAT [Show Flanks]
Chromosome:: 14:103695166 (GRCh38)
14:104161503 (GRCh37)
Canonical SPDI:: NC_000014.9:103695158:TATATATATATATAT:TATATAT,NC_000014.9:103695158:TATATATATATATAT:TATATATATAT,NC_000014.9:103695158:TATATATATATATAT:TATATATATATAT,NC_000014.9:103695158:TATATATATATATAT:TATATATATATATATAT,NC_000014.9:103695158:TATATATATATATAT:TATATATATATATATATAT,NC_000014.9:103695158:TATATATATATATAT:TATATATATATATATATATAT
Gene:: KLC1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATAT=0./0 (ALFA)
TA=0.19317/865 (Estonian)
TA=0.21833/131 (NorthernSweden)
TA=0.275/11 (GENOME_DK)
TA=0.38279/1917 (1000Genomes)
HGVS:: NC_000014.9:g.103695160AT[3], NC_000014.9:g.103695160AT[5], NC_000014.9:g.103695160AT[6], NC_000014.9:g.103695160AT[8], NC_000014.9:g.103695160AT[9], NC_000014.9:g.103695160AT[10], NC_000014.8:g.104161497AT[3], NC_000014.8:g.104161497AT[5], NC_000014.8:g.104161497AT[6], NC_000014.8:g.104161497AT[8], NC_000014.8:g.104161497AT[9], NC_000014.8:g.104161497AT[10], NG_012307.1:g.70973AT[3], NG_012307.1:g.70973AT[5], NG_012307.1:g.70973AT[6], NG_012307.1:g.70973AT[8], NG_012307.1:g.70973AT[9], NG_012307.1:g.70973AT[10], NM_001394833.1:c.*1542AT[3], NM_001394833.1:c.*1542AT[5], NM_001394833.1:c.*1542AT[6], NM_001394833.1:c.*1542AT[8], NM_001394833.1:c.*1542AT[9], NM_001394833.1:c.*1542AT[10], NM_001394835.1:c.*1542AT[3], NM_001394835.1:c.*1542AT[5], NM_001394835.1:c.*1542AT[6], NM_001394835.1:c.*1542AT[8], NM_001394835.1:c.*1542AT[9], NM_001394835.1:c.*1542AT[10], NM_001394838.1:c.*1542AT[3], NM_001394838.1:c.*1542AT[5], NM_001394838.1:c.*1542AT[6], NM_001394838.1:c.*1542AT[8], NM_001394838.1:c.*1542AT[9], NM_001394838.1:c.*1542AT[10], NM_001394841.1:c.*1542AT[3], NM_001394841.1:c.*1542AT[5], NM_001394841.1:c.*1542AT[6], NM_001394841.1:c.*1542AT[8], NM_001394841.1:c.*1542AT[9], NM_001394841.1:c.*1542AT[10], NM_001394845.1:c.*1571AT[3], NM_001394845.1:c.*1571AT[5], NM_001394845.1:c.*1571AT[6], NM_001394845.1:c.*1571AT[8], NM_001394845.1:c.*1571AT[9], NM_001394845.1:c.*1571AT[10], NM_001394847.1:c.*1571AT[3], NM_001394847.1:c.*1571AT[5], NM_001394847.1:c.*1571AT[6], NM_001394847.1:c.*1571AT[8], NM_001394847.1:c.*1571AT[9], NM_001394847.1:c.*1571AT[10], NM_001394854.1:c.*1642AT[3], NM_001394854.1:c.*1642AT[5], NM_001394854.1:c.*1642AT[6], NM_001394854.1:c.*1642AT[8], NM_001394854.1:c.*1642AT[9], NM_001394854.1:c.*1642AT[10], NM_001394859.1:c.*1642AT[3], NM_001394859.1:c.*1642AT[5], NM_001394859.1:c.*1642AT[6], NM_001394859.1:c.*1642AT[8], NM_001394859.1:c.*1642AT[9], NM_001394859.1:c.*1642AT[10], NM_001394853.1:c.*1542AT[3], NM_001394853.1:c.*1542AT[5], NM_001394853.1:c.*1542AT[6], NM_001394853.1:c.*1542AT[8], NM_001394853.1:c.*1542AT[9], NM_001394853.1:c.*1542AT[10]

Select item 14914725465.

rs1491472546 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 14:103695422 (GRCh38)
14:104161760 (GRCh37)
Canonical SPDI:: NC_000014.9:103695422:GGGGGG:GGGGGGG
Gene:: KLC1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
HGVS:: NC_000014.9:g.103695428dup, NC_000014.8:g.104161765dup, NG_012307.1:g.71241dup, NM_001394833.1:c.*1810dup, NM_001394835.1:c.*1810dup, NM_001394838.1:c.*1810dup, NM_001394841.1:c.*1810dup, NM_001394845.1:c.*1839dup, NM_001394847.1:c.*1839dup, NM_001394854.1:c.*1910dup, NM_001394859.1:c.*1910dup, NM_001394853.1:c.*1810dup

Select item 14914480186.

rs1491448018 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 14:103695360 (GRCh38)
14:104161698 (GRCh37)
Canonical SPDI:: NC_000014.9:103695360:ACA:ACACA
Gene:: KLC1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: ACACA=0.000084/1 (ALFA)
AC=0.000041/5 (GnomAD)
HGVS:: NC_000014.9:g.103695362_103695363dup, NC_000014.8:g.104161699_104161700dup, NG_012307.1:g.71175_71176dup, NM_001394833.1:c.*1744_*1745dup, NM_001394835.1:c.*1744_*1745dup, NM_001394838.1:c.*1744_*1745dup, NM_001394841.1:c.*1744_*1745dup, NM_001394845.1:c.*1773_*1774dup, NM_001394847.1:c.*1773_*1774dup, NM_001394854.1:c.*1844_*1845dup, NM_001394859.1:c.*1844_*1845dup, NM_001394853.1:c.*1744_*1745dup

Select item 14914231637.

rs1491423163 has merged into rs57400682 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA [Show Flanks]
Chromosome:: 14:103690191 (GRCh38)
14:104156528 (GRCh37)
Canonical SPDI:: NC_000014.9:103690180:AAAAAAAAAAAAAA:AAAAAAAAAA,NC_000014.9:103690180:AAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000014.9:103690180:AAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000014.9:103690180:AAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000014.9:103690180:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000014.9:103690180:AAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA
Gene:: KLC1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000014.9:g.103690191_103690194del, NC_000014.9:g.103690192_103690194del, NC_000014.9:g.103690193_103690194del, NC_000014.9:g.103690194del, NC_000014.9:g.103690194dup, NC_000014.9:g.103690193_103690194dup, NC_000014.8:g.104156528_104156531del, NC_000014.8:g.104156529_104156531del, NC_000014.8:g.104156530_104156531del, NC_000014.8:g.104156531del, NC_000014.8:g.104156531dup, NC_000014.8:g.104156530_104156531dup, NG_012307.1:g.66004_66007del, NG_012307.1:g.66005_66007del, NG_012307.1:g.66006_66007del, NG_012307.1:g.66007del, NG_012307.1:g.66007dup, NG_012307.1:g.66006_66007dup

Select item 14914024128.

rs1491402412 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 14:103695309 (GRCh38)
14:104161646 (GRCh37)
Canonical SPDI:: NC_000014.9:103695308:AT:
Gene:: KLC1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000008/1 (GnomAD)
-=0.000035/1 (TOMMO)
HGVS:: NC_000014.9:g.103695309_103695310del, NC_000014.8:g.104161646_104161647del, NG_012307.1:g.71122_71123del, NM_001394833.1:c.*1691_*1692del, NM_001394835.1:c.*1691_*1692del, NM_001394838.1:c.*1691_*1692del, NM_001394841.1:c.*1691_*1692del, NM_001394845.1:c.*1720_*1721del, NM_001394847.1:c.*1720_*1721del, NM_001394854.1:c.*1791_*1792del, NM_001394859.1:c.*1791_*1792del, NM_001394853.1:c.*1691_*1692del

Select item 14913990989.

rs1491399098 has merged into rs565154148 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT,ATATATAT,ATATATATAT [Show Flanks]
Chromosome:: 14:103695325 (GRCh38)
14:104161662 (GRCh37)
Canonical SPDI:: NC_000014.9:103695313:TATATATATATATAT:TATATATATAT,NC_000014.9:103695313:TATATATATATATAT:TATATATATATAT,NC_000014.9:103695313:TATATATATATATAT:TATATATATATATATAT,NC_000014.9:103695313:TATATATATATATAT:TATATATATATATATATAT,NC_000014.9:103695313:TATATATATATATAT:TATATATATATATATATATAT
Gene:: KLC1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATAT=0./0 (ALFA)
-=0.01997/100 (1000Genomes)
HGVS:: NC_000014.9:g.103695315AT[5], NC_000014.9:g.103695315AT[6], NC_000014.9:g.103695315AT[8], NC_000014.9:g.103695315AT[9], NC_000014.9:g.103695315AT[10], NC_000014.8:g.104161652AT[5], NC_000014.8:g.104161652AT[6], NC_000014.8:g.104161652AT[8], NC_000014.8:g.104161652AT[9], NC_000014.8:g.104161652AT[10], NG_012307.1:g.71128AT[5], NG_012307.1:g.71128AT[6], NG_012307.1:g.71128AT[8], NG_012307.1:g.71128AT[9], NG_012307.1:g.71128AT[10], NM_001394833.1:c.*1697AT[5], NM_001394833.1:c.*1697AT[6], NM_001394833.1:c.*1697AT[8], NM_001394833.1:c.*1697AT[9], NM_001394833.1:c.*1697AT[10], NM_001394835.1:c.*1697AT[5], NM_001394835.1:c.*1697AT[6], NM_001394835.1:c.*1697AT[8], NM_001394835.1:c.*1697AT[9], NM_001394835.1:c.*1697AT[10], NM_001394838.1:c.*1697AT[5], NM_001394838.1:c.*1697AT[6], NM_001394838.1:c.*1697AT[8], NM_001394838.1:c.*1697AT[9], NM_001394838.1:c.*1697AT[10], NM_001394841.1:c.*1697AT[5], NM_001394841.1:c.*1697AT[6], NM_001394841.1:c.*1697AT[8], NM_001394841.1:c.*1697AT[9], NM_001394841.1:c.*1697AT[10], NM_001394845.1:c.*1726AT[5], NM_001394845.1:c.*1726AT[6], NM_001394845.1:c.*1726AT[8], NM_001394845.1:c.*1726AT[9], NM_001394845.1:c.*1726AT[10], NM_001394847.1:c.*1726AT[5], NM_001394847.1:c.*1726AT[6], NM_001394847.1:c.*1726AT[8], NM_001394847.1:c.*1726AT[9], NM_001394847.1:c.*1726AT[10], NM_001394854.1:c.*1797AT[5], NM_001394854.1:c.*1797AT[6], NM_001394854.1:c.*1797AT[8], NM_001394854.1:c.*1797AT[9], NM_001394854.1:c.*1797AT[10], NM_001394859.1:c.*1797AT[5], NM_001394859.1:c.*1797AT[6], NM_001394859.1:c.*1797AT[8], NM_001394859.1:c.*1797AT[9], NM_001394859.1:c.*1797AT[10], NM_001394853.1:c.*1697AT[5], NM_001394853.1:c.*1697AT[6], NM_001394853.1:c.*1697AT[8], NM_001394853.1:c.*1697AT[9], NM_001394853.1:c.*1697AT[10]

Select item 149137312010.

rs1491373120 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->ATC
Chromosome:: no mapping
Canonical SPDI:

Select item 149136876611.

rs1491368766 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ATACTATTTCAGGTGTTCT [Show Flanks]
Chromosome:: 14:103630461 (GRCh38)
14:104096799 (GRCh37)
Canonical SPDI:: NC_000014.9:103630461:TATACTATTTCAGGTGTTCT:TATACTATTTCAGGTGTTCTATACTATTTCAGGTGTTCT
Gene:: KLC1 (Varview), LOC105370688 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: TATACTATTTCAGGTGTTCTATACTATTTCAGGTGTTCT=0.000084/1 (ALFA)
TATACTATTTCAGGTGTTC=0.000007/1 (GnomAD)
HGVS:: NC_000014.9:g.103630463_103630481dup, NC_000014.8:g.104096800_104096818dup, NG_012307.1:g.6276_6294dup

Select item 149129448412.

rs1491294484 [Homo sapiens]

Variant type:: DEL
Alleles:: CC>- [Show Flanks]
Chromosome:: 14:103670570 (GRCh38)
14:104136907 (GRCh37)
Canonical SPDI:: NC_000014.9:103670569:CC:
Gene:: KLC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000415/58 (GnomAD)
HGVS:: NC_000014.9:g.103670570_103670571del, NC_000014.8:g.104136907_104136908del, NG_012307.1:g.46383_46384del

Select item 149128968413.

rs1491289684 has merged into rs1423051642 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 14:103664844 (GRCh38)
14:104131181 (GRCh37)
Canonical SPDI:: NC_000014.9:103664843:AAA:AA,NC_000014.9:103664843:AAA:AAAA
Gene:: KLC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAA=0./0 (ALFA)
-=0.00016/15 (GnomAD)
HGVS:: NC_000014.9:g.103664846del, NC_000014.9:g.103664846dup, NC_000014.8:g.104131183del, NC_000014.8:g.104131183dup, NG_012307.1:g.40659del, NG_012307.1:g.40659dup

Select item 149128704214.

rs1491287042 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 14:103637542 (GRCh38)
14:104103879 (GRCh37)
Canonical SPDI:: NC_000014.9:103637540:AGA:A
Gene:: KLC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000014.9:g.103637542_103637543del, NC_000014.8:g.104103879_104103880del, NG_012307.1:g.13355_13356del

Select item 149124228415.

rs1491242284 [Homo sapiens]

Variant type:: DELINS
Alleles:: CG>-,CGCG [Show Flanks]
Chromosome:: 14:103638918 (GRCh38)
14:104105255 (GRCh37)
Canonical SPDI:: NC_000014.9:103638916:GCG:G,NC_000014.9:103638916:GCG:GCGCG
Gene:: KLC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGCG=0./0 (ALFA)
HGVS:: NC_000014.9:g.103638918_103638919del, NC_000014.9:g.103638918_103638919dup, NC_000014.8:g.104105255_104105256del, NC_000014.8:g.104105255_104105256dup, NG_012307.1:g.14731_14732del, NG_012307.1:g.14731_14732dup

Select item 149116465416.

rs1491164654 has merged into rs758498759 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA [Show Flanks]
Chromosome:: 14:103630464 (GRCh38)
14:104096801 (GRCh37)
Canonical SPDI:: NC_000014.9:103630460:ATATA:ATA,NC_000014.9:103630460:ATATA:ATATATA
Gene:: KLC1 (Varview), LOC105370688 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATA=0./0 (ALFA)
-=0.000019/5 (TOPMED)
AT=0.000259/1 (ALSPAC)
AT=0.00027/1 (TWINSUK)
HGVS:: NC_000014.9:g.103630462TA[1], NC_000014.9:g.103630462TA[3], NC_000014.8:g.104096799TA[1], NC_000014.8:g.104096799TA[3], NG_012307.1:g.6275TA[1], NG_012307.1:g.6275TA[3]

Select item 149104531617.

rs1491045316 has merged into rs111661172 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 14:103679305 (GRCh38)
14:104145642 (GRCh37)
Canonical SPDI:: NC_000014.9:103679303:TCT:T
Gene:: KLC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by cluster
HGVS:: NC_000014.9:g.103679305_103679306del, NC_000014.8:g.104145642_104145643del, NG_012307.1:g.55118_55119del

Select item 149104180018.

rs1491041800 has merged into rs58151718 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,T,TTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 14:103658666 (GRCh38)
14:104125003 (GRCh37)
Canonical SPDI:: NC_000014.9:103658656:TTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000014.9:103658656:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:103658656:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:103658656:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:103658656:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:103658656:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:103658656:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:103658656:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:103658656:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:103658656:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:103658656:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:103658656:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: KLC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.25/2 (KOREAN)
-=0.425/17 (GENOME_DK)
HGVS:: NC_000014.9:g.103658666_103658675del, NC_000014.9:g.103658667_103658675del, NC_000014.9:g.103658669_103658675del, NC_000014.9:g.103658673_103658675del, NC_000014.9:g.103658674_103658675del, NC_000014.9:g.103658675del, NC_000014.9:g.103658675dup, NC_000014.9:g.103658674_103658675dup, NC_000014.9:g.103658673_103658675dup, NC_000014.9:g.103658672_103658675dup, NC_000014.9:g.103658671_103658675dup, NC_000014.9:g.103658670_103658675dup, NC_000014.8:g.104125003_104125012del, NC_000014.8:g.104125004_104125012del, NC_000014.8:g.104125006_104125012del, NC_000014.8:g.104125010_104125012del, NC_000014.8:g.104125011_104125012del, NC_000014.8:g.104125012del, NC_000014.8:g.104125012dup, NC_000014.8:g.104125011_104125012dup, NC_000014.8:g.104125010_104125012dup, NC_000014.8:g.104125009_104125012dup, NC_000014.8:g.104125008_104125012dup, NC_000014.8:g.104125007_104125012dup, NG_012307.1:g.34479_34488del, NG_012307.1:g.34480_34488del, NG_012307.1:g.34482_34488del, NG_012307.1:g.34486_34488del, NG_012307.1:g.34487_34488del, NG_012307.1:g.34488del, NG_012307.1:g.34488dup, NG_012307.1:g.34487_34488dup, NG_012307.1:g.34486_34488dup, NG_012307.1:g.34485_34488dup, NG_012307.1:g.34484_34488dup, NG_012307.1:g.34483_34488dup

Select item 149103406419.

rs1491034064 has merged into rs34994116 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 14:103694261 (GRCh38)
14:104160598 (GRCh37)
Canonical SPDI:: NC_000014.9:103694250:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000014.9:103694250:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000014.9:103694250:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000014.9:103694250:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000014.9:103694250:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000014.9:103694250:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000014.9:103694250:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000014.9:103694250:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000014.9:103694250:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000014.9:103694250:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000014.9:103694250:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000014.9:103694250:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:103694250:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000014.9:103694250:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: KLC1 (Varview)
Functional Consequence:: 3_prime_UTR_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000014.9:g.103694261_103694269del, NC_000014.9:g.103694262_103694269del, NC_000014.9:g.103694263_103694269del, NC_000014.9:g.103694264_103694269del, NC_000014.9:g.103694265_103694269del, NC_000014.9:g.103694266_103694269del, NC_000014.9:g.103694267_103694269del, NC_000014.9:g.103694268_103694269del, NC_000014.9:g.103694269del, NC_000014.9:g.103694269dup, NC_000014.9:g.103694268_103694269dup, NC_000014.9:g.103694267_103694269dup, NC_000014.9:g.103694266_103694269dup, NC_000014.9:g.103694264_103694269dup, NC_000014.8:g.104160598_104160606del, NC_000014.8:g.104160599_104160606del, NC_000014.8:g.104160600_104160606del, NC_000014.8:g.104160601_104160606del, NC_000014.8:g.104160602_104160606del, NC_000014.8:g.104160603_104160606del, NC_000014.8:g.104160604_104160606del, NC_000014.8:g.104160605_104160606del, NC_000014.8:g.104160606del, NC_000014.8:g.104160606dup, NC_000014.8:g.104160605_104160606dup, NC_000014.8:g.104160604_104160606dup, NC_000014.8:g.104160603_104160606dup, NC_000014.8:g.104160601_104160606dup, NG_012307.1:g.70074_70082del, NG_012307.1:g.70075_70082del, NG_012307.1:g.70076_70082del, NG_012307.1:g.70077_70082del, NG_012307.1:g.70078_70082del, NG_012307.1:g.70079_70082del, NG_012307.1:g.70080_70082del, NG_012307.1:g.70081_70082del, NG_012307.1:g.70082del, NG_012307.1:g.70082dup, NG_012307.1:g.70081_70082dup, NG_012307.1:g.70080_70082dup, NG_012307.1:g.70079_70082dup, NG_012307.1:g.70077_70082dup, NM_001394833.1:c.*643_*651del, NM_001394833.1:c.*644_*651del, NM_001394833.1:c.*645_*651del, NM_001394833.1:c.*646_*651del, NM_001394833.1:c.*647_*651del, NM_001394833.1:c.*648_*651del, NM_001394833.1:c.*649_*651del, NM_001394833.1:c.*650_*651del, NM_001394833.1:c.*651del, NM_001394833.1:c.*651dup, NM_001394833.1:c.*650_*651dup, NM_001394833.1:c.*649_*651dup, NM_001394833.1:c.*648_*651dup, NM_001394833.1:c.*646_*651dup, NM_001394835.1:c.*643_*651del, NM_001394835.1:c.*644_*651del, NM_001394835.1:c.*645_*651del, NM_001394835.1:c.*646_*651del, NM_001394835.1:c.*647_*651del, NM_001394835.1:c.*648_*651del, NM_001394835.1:c.*649_*651del, NM_001394835.1:c.*650_*651del, NM_001394835.1:c.*651del, NM_001394835.1:c.*651dup, NM_001394835.1:c.*650_*651dup, NM_001394835.1:c.*649_*651dup, NM_001394835.1:c.*648_*651dup, NM_001394835.1:c.*646_*651dup, NM_001394838.1:c.*643_*651del, NM_001394838.1:c.*644_*651del, NM_001394838.1:c.*645_*651del, NM_001394838.1:c.*646_*651del, NM_001394838.1:c.*647_*651del, NM_001394838.1:c.*648_*651del, NM_001394838.1:c.*649_*651del, NM_001394838.1:c.*650_*651del, NM_001394838.1:c.*651del, NM_001394838.1:c.*651dup, NM_001394838.1:c.*650_*651dup, NM_001394838.1:c.*649_*651dup, NM_001394838.1:c.*648_*651dup, NM_001394838.1:c.*646_*651dup, NM_001394841.1:c.*643_*651del, NM_001394841.1:c.*644_*651del, NM_001394841.1:c.*645_*651del, NM_001394841.1:c.*646_*651del, NM_001394841.1:c.*647_*651del, NM_001394841.1:c.*648_*651del, NM_001394841.1:c.*649_*651del, NM_001394841.1:c.*650_*651del, NM_001394841.1:c.*651del, NM_001394841.1:c.*651dup, NM_001394841.1:c.*650_*651dup, NM_001394841.1:c.*649_*651dup, NM_001394841.1:c.*648_*651dup, NM_001394841.1:c.*646_*651dup, NM_001394845.1:c.*672_*680del, NM_001394845.1:c.*673_*680del, NM_001394845.1:c.*674_*680del, NM_001394845.1:c.*675_*680del, NM_001394845.1:c.*676_*680del, NM_001394845.1:c.*677_*680del, NM_001394845.1:c.*678_*680del, NM_001394845.1:c.*679_*680del, NM_001394845.1:c.*680del, NM_001394845.1:c.*680dup, NM_001394845.1:c.*679_*680dup, NM_001394845.1:c.*678_*680dup, NM_001394845.1:c.*677_*680dup, NM_001394845.1:c.*675_*680dup, NM_001394847.1:c.*672_*680del, NM_001394847.1:c.*673_*680del, NM_001394847.1:c.*674_*680del, NM_001394847.1:c.*675_*680del, NM_001394847.1:c.*676_*680del, NM_001394847.1:c.*677_*680del, NM_001394847.1:c.*678_*680del, NM_001394847.1:c.*679_*680del, NM_001394847.1:c.*680del, NM_001394847.1:c.*680dup, NM_001394847.1:c.*679_*680dup, NM_001394847.1:c.*678_*680dup, NM_001394847.1:c.*677_*680dup, NM_001394847.1:c.*675_*680dup, NM_001394854.1:c.*743_*751del, NM_001394854.1:c.*744_*751del, NM_001394854.1:c.*745_*751del, NM_001394854.1:c.*746_*751del, NM_001394854.1:c.*747_*751del, NM_001394854.1:c.*748_*751del, NM_001394854.1:c.*749_*751del, NM_001394854.1:c.*750_*751del, NM_001394854.1:c.*751del, NM_001394854.1:c.*751dup, NM_001394854.1:c.*750_*751dup, NM_001394854.1:c.*749_*751dup, NM_001394854.1:c.*748_*751dup, NM_001394854.1:c.*746_*751dup, NM_001394859.1:c.*743_*751del, NM_001394859.1:c.*744_*751del, NM_001394859.1:c.*745_*751del, NM_001394859.1:c.*746_*751del, NM_001394859.1:c.*747_*751del, NM_001394859.1:c.*748_*751del, NM_001394859.1:c.*749_*751del, NM_001394859.1:c.*750_*751del, NM_001394859.1:c.*751del, NM_001394859.1:c.*751dup, NM_001394859.1:c.*750_*751dup, NM_001394859.1:c.*749_*751dup, NM_001394859.1:c.*748_*751dup, NM_001394859.1:c.*746_*751dup, NM_001394853.1:c.*643_*651del, NM_001394853.1:c.*644_*651del, NM_001394853.1:c.*645_*651del, NM_001394853.1:c.*646_*651del, NM_001394853.1:c.*647_*651del, NM_001394853.1:c.*648_*651del, NM_001394853.1:c.*649_*651del, NM_001394853.1:c.*650_*651del, NM_001394853.1:c.*651del, NM_001394853.1:c.*651dup, NM_001394853.1:c.*650_*651dup, NM_001394853.1:c.*649_*651dup, NM_001394853.1:c.*648_*651dup, NM_001394853.1:c.*646_*651dup

Select item 149098894520.

rs1490988945 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 14:103692965 (GRCh38)
14:104159302 (GRCh37)
Canonical SPDI:: NC_000014.9:103692964:T:C
Gene:: KLC1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000014.9:g.103692965T>C, NC_000014.8:g.104159302T>C, NG_012307.1:g.68778T>C

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