SNP Links for Gene (Select 9764) - SNP

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Select item 14915488971.

rs1491548897 [Homo sapiens]

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

Select item 14914967452.

rs1491496745 [Homo sapiens]

Variant type:: INS
Alleles:: ->CACACACG [Show Flanks]
Chromosome:: 16:85074342 (GRCh38)
16:85107949 (GRCh37)
Canonical SPDI:: NC_000016.10:85074342::CACACACG
Gene:: KIAA0513 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: CACACACG=0.000125/14 (GnomAD)
HGVS:: NC_000016.10:g.85074342_85074343insCACACACG, NC_000016.9:g.85107948_85107949insCACACACG

Select item 14914864433.

rs1491486443 has merged into rs546709644 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TT,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 16:85071776 (GRCh38)
16:85105382 (GRCh37)
Canonical SPDI:: NC_000016.10:85071765:TTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:85071765:TTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:85071765:TTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:85071765:TTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:85071765:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:85071765:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:85071765:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:85071765:TTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT
Gene:: KIAA0513 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.01007/6 (NorthernSweden)
T=0.225/9 (GENOME_DK)
T=0.23542/1179 (1000Genomes)
HGVS:: NC_000016.10:g.85071776_85071780del, NC_000016.10:g.85071777_85071780del, NC_000016.10:g.85071778_85071780del, NC_000016.10:g.85071779_85071780del, NC_000016.10:g.85071780del, NC_000016.10:g.85071780dup, NC_000016.10:g.85071779_85071780dup, NC_000016.10:g.85071778_85071780dup, NC_000016.9:g.85105382_85105386del, NC_000016.9:g.85105383_85105386del, NC_000016.9:g.85105384_85105386del, NC_000016.9:g.85105385_85105386del, NC_000016.9:g.85105386del, NC_000016.9:g.85105386dup, NC_000016.9:g.85105385_85105386dup, NC_000016.9:g.85105384_85105386dup

Select item 14914413064.

rs1491441306 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 16:85094218 (GRCh38)
16:85127825 (GRCh37)
Canonical SPDI:: NC_000016.10:85094218::G
Gene:: KIAA0513 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000029/4 (GnomAD)
HGVS:: NC_000016.10:g.85094218_85094219insG, NC_000016.9:g.85127824_85127825insG, XM_017023912.2:c.*5893_*5894insG, XM_017023912.1:c.*5893_*5894insG, XM_047434981.1:c.*5893_*5894insG, XM_047434983.1:c.*5893_*5894insG, XM_047434982.1:c.*5893_*5894insG, NM_001286565.1:c.*5893_*5894insG, XM_047434984.1:c.*5893_*5894insG

Select item 14914309495.

rs1491430949 has merged into rs1457209069 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T [Show Flanks]
Chromosome:: 16:85094219 (GRCh38)
16:85127825 (GRCh37)
Canonical SPDI:: NC_000016.10:85094217:TTT:T,NC_000016.10:85094217:TTT:TT
Gene:: KIAA0513 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,downstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000034/9 (TOPMED)
HGVS:: NC_000016.10:g.85094219_85094220del, NC_000016.10:g.85094220del, NC_000016.9:g.85127825_85127826del, NC_000016.9:g.85127826del, XM_017023912.2:c.*5894_*5895del, XM_017023912.2:c.*5895del, XM_017023912.1:c.*5894_*5895del, XM_017023912.1:c.*5895del, XM_047434981.1:c.*5894_*5895del, XM_047434981.1:c.*5895del, XM_047434983.1:c.*5894_*5895del, XM_047434983.1:c.*5895del, XM_047434982.1:c.*5894_*5895del, XM_047434982.1:c.*5895del, NM_001286565.1:c.*5894_*5895del, NM_001286565.1:c.*5895del, XM_047434984.1:c.*5894_*5895del, XM_047434984.1:c.*5895del

Select item 14913900286.

rs1491390028 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 16:85084430 (GRCh38)
16:85118037 (GRCh37)
Canonical SPDI:: NC_000016.10:85084430::C
Gene:: KIAA0513 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00025/3 (ALFA)
C=0.00004/1 (TOMMO)
C=0.00039/27 (GnomAD)
HGVS:: NC_000016.10:g.85084430_85084431insC, NC_000016.9:g.85118036_85118037insC

Select item 14912956907.

rs1491295690 has merged into rs139843220 [Homo sapiens]

Variant type:: DELINS
Alleles:: ATAT>-,AT,ATATAT,ATATATAT [Show Flanks]
Chromosome:: 16:85074368 (GRCh38)
16:85107974 (GRCh37)
Canonical SPDI:: NC_000016.10:85074363:ATATATAT:ATAT,NC_000016.10:85074363:ATATATAT:ATATAT,NC_000016.10:85074363:ATATATAT:ATATATATAT,NC_000016.10:85074363:ATATATAT:ATATATATATAT
Gene:: KIAA0513 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATAT=0./0 (ALFA)
AT=0.00004/1 (TOMMO)
-=0.04315/160 (TWINSUK)
-=0.0467/180 (ALSPAC)
HGVS:: NC_000016.10:g.85074364AT[2], NC_000016.10:g.85074364AT[3], NC_000016.10:g.85074364AT[5], NC_000016.10:g.85074364AT[6], NC_000016.9:g.85107970AT[2], NC_000016.9:g.85107970AT[3], NC_000016.9:g.85107970AT[5], NC_000016.9:g.85107970AT[6]

Select item 14912554298.

rs1491255429 has merged into rs398042273 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:85054429 (GRCh38)
16:85088035 (GRCh37)
Canonical SPDI:: NC_000016.10:85054421:TTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000016.10:85054421:TTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000016.10:85054421:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000016.10:85054421:TTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:85054421:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:85054421:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:85054421:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:85054421:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:85054421:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:85054421:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:85054421:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:85054421:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:85054421:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:85054421:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85054421:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85054421:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85054421:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85054421:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85054421:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85054421:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85054421:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85054421:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85054421:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85054421:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85054421:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85054421:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85054421:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85054421:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85054421:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85054421:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85054421:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85054421:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85054421:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85054421:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85054421:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85054421:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85054421:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85054421:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85054421:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85054421:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:85054421:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: KIAA0513 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
-=0.15/6 (GENOME_DK)
HGVS:: NC_000016.10:g.85054429_85054439del, NC_000016.10:g.85054430_85054439del, NC_000016.10:g.85054431_85054439del, NC_000016.10:g.85054432_85054439del, NC_000016.10:g.85054433_85054439del, NC_000016.10:g.85054434_85054439del, NC_000016.10:g.85054435_85054439del, NC_000016.10:g.85054436_85054439del, NC_000016.10:g.85054437_85054439del, NC_000016.10:g.85054438_85054439del, NC_000016.10:g.85054439del, NC_000016.10:g.85054439dup, NC_000016.10:g.85054438_85054439dup, NC_000016.10:g.85054436_85054439dup, NC_000016.10:g.85054435_85054439dup, NC_000016.10:g.85054434_85054439dup, NC_000016.10:g.85054433_85054439dup, NC_000016.10:g.85054432_85054439dup, NC_000016.10:g.85054431_85054439dup, NC_000016.10:g.85054430_85054439dup, NC_000016.10:g.85054429_85054439dup, NC_000016.10:g.85054428_85054439dup, NC_000016.10:g.85054427_85054439dup, NC_000016.10:g.85054426_85054439dup, NC_000016.10:g.85054425_85054439dup, NC_000016.10:g.85054424_85054439dup, NC_000016.10:g.85054423_85054439dup, NC_000016.10:g.85054422_85054439dup, NC_000016.10:g.85054439_85054440insTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.85054439_85054440insTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.85054439_85054440insTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.85054439_85054440insTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.85054439_85054440insTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.85054439_85054440insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.85054439_85054440insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.85054439_85054440insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.85054439_85054440insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.85054439_85054440insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.85054439_85054440insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.85054439_85054440insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.85054439_85054440insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.85088035_85088045del, NC_000016.9:g.85088036_85088045del, NC_000016.9:g.85088037_85088045del, NC_000016.9:g.85088038_85088045del, NC_000016.9:g.85088039_85088045del, NC_000016.9:g.85088040_85088045del, NC_000016.9:g.85088041_85088045del, NC_000016.9:g.85088042_85088045del, NC_000016.9:g.85088043_85088045del, NC_000016.9:g.85088044_85088045del, NC_000016.9:g.85088045del, NC_000016.9:g.85088045dup, NC_000016.9:g.85088044_85088045dup, NC_000016.9:g.85088042_85088045dup, NC_000016.9:g.85088041_85088045dup, NC_000016.9:g.85088040_85088045dup, NC_000016.9:g.85088039_85088045dup, NC_000016.9:g.85088038_85088045dup, NC_000016.9:g.85088037_85088045dup, NC_000016.9:g.85088036_85088045dup, NC_000016.9:g.85088035_85088045dup, NC_000016.9:g.85088034_85088045dup, NC_000016.9:g.85088033_85088045dup, NC_000016.9:g.85088032_85088045dup, NC_000016.9:g.85088031_85088045dup, NC_000016.9:g.85088030_85088045dup, NC_000016.9:g.85088029_85088045dup, NC_000016.9:g.85088028_85088045dup, NC_000016.9:g.85088045_85088046insTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.85088045_85088046insTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.85088045_85088046insTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.85088045_85088046insTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.85088045_85088046insTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.85088045_85088046insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.85088045_85088046insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.85088045_85088046insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.85088045_85088046insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.85088045_85088046insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.85088045_85088046insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.85088045_85088046insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.85088045_85088046insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14911992929.

rs1491199292 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,CTTT [Show Flanks]
Chromosome:: 16:85091938 (GRCh38)
16:85125545 (GRCh37)
Canonical SPDI:: NC_000016.10:85091938::C,NC_000016.10:85091938::CTTT
Gene:: KIAA0513 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00067/8 (ALFA)
HGVS:: NC_000016.10:g.85091938_85091939insC, NC_000016.10:g.85091938_85091939insCTTT, NC_000016.9:g.85125544_85125545insC, NC_000016.9:g.85125544_85125545insCTTT, NM_014732.4:c.*3613_*3614insC, NM_014732.4:c.*3613_*3614insCTTT, NM_014732.3:c.*3613_*3614insC, NM_014732.3:c.*3613_*3614insCTTT, NM_014732.2:c.*3613_*3614insC, NM_014732.2:c.*3613_*3614insCTTT, XM_017023912.2:c.*3613_*3614insC, XM_017023912.2:c.*3613_*3614insCTTT, XM_017023912.1:c.*3613_*3614insC, XM_017023912.1:c.*3613_*3614insCTTT, NM_001286566.2:c.*3613_*3614insC, NM_001286566.2:c.*3613_*3614insCTTT, NM_001286566.1:c.*3613_*3614insC, NM_001286566.1:c.*3613_*3614insCTTT, XM_047434981.1:c.*3613_*3614insC, XM_047434981.1:c.*3613_*3614insCTTT, XM_047434983.1:c.*3613_*3614insC, XM_047434983.1:c.*3613_*3614insCTTT, XM_047434982.1:c.*3613_*3614insC, XM_047434982.1:c.*3613_*3614insCTTT, NM_001286565.1:c.*3613_*3614insC, NM_001286565.1:c.*3613_*3614insCTTT, NM_001388359.1:c.*3613_*3614insC, NM_001388359.1:c.*3613_*3614insCTTT, XM_047434984.1:c.*3613_*3614insC, XM_047434984.1:c.*3613_*3614insCTTT

Select item 149116307210.

rs1491163072 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 16:85091216 (GRCh38)
16:85124823 (GRCh37)
Canonical SPDI:: NC_000016.10:85091216:A:AA
Gene:: KIAA0513 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0.000071/1 (ALFA)
A=0.000021/3 (GnomAD)
A=0.000026/7 (TOPMED)
HGVS:: NC_000016.10:g.85091217dup, NC_000016.9:g.85124823dup, NM_014732.4:c.*2892dup, NM_014732.3:c.*2892dup, NM_014732.2:c.*2892dup, XM_017023912.2:c.*2892dup, XM_017023912.1:c.*2892dup, NM_001286566.2:c.*2892dup, NM_001286566.1:c.*2892dup, XM_047434981.1:c.*2892dup, XM_047434983.1:c.*2892dup, XM_047434982.1:c.*2892dup, NM_001286565.1:c.*2892dup, NM_001388359.1:c.*2892dup, XM_047434984.1:c.*2892dup

Select item 149114978611.

rs1491149786 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 16:85091938 (GRCh38)
16:85125544 (GRCh37)
Canonical SPDI:: NC_000016.10:85091937:AT:
Gene:: KIAA0513 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000016.10:g.85091938_85091939del, NC_000016.9:g.85125544_85125545del, NM_014732.4:c.*3613_*3614del, NM_014732.3:c.*3613_*3614del, NM_014732.2:c.*3613_*3614del, XM_017023912.2:c.*3613_*3614del, XM_017023912.1:c.*3613_*3614del, NM_001286566.2:c.*3613_*3614del, NM_001286566.1:c.*3613_*3614del, XM_047434981.1:c.*3613_*3614del, XM_047434983.1:c.*3613_*3614del, XM_047434982.1:c.*3613_*3614del, NM_001286565.1:c.*3613_*3614del, NM_001388359.1:c.*3613_*3614del, XM_047434984.1:c.*3613_*3614del

Select item 149112439712.

rs1491124397 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:85091220 (GRCh38)
16:85124826 (GRCh37)
Canonical SPDI:: NC_000016.10:85091215:CACACA:CACA
Gene:: KIAA0513 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CACA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.85091216CA[2], NC_000016.9:g.85124822CA[2], NM_014732.4:c.*2891CA[2], NM_014732.3:c.*2891CA[2], NM_014732.2:c.*2891CA[2], XM_017023912.2:c.*2891CA[2], XM_017023912.1:c.*2891CA[2], NM_001286566.2:c.*2891CA[2], NM_001286566.1:c.*2891CA[2], XM_047434981.1:c.*2891CA[2], XM_047434983.1:c.*2891CA[2], XM_047434982.1:c.*2891CA[2], NM_001286565.1:c.*2891CA[2], NM_001388359.1:c.*2891CA[2], XM_047434984.1:c.*2891CA[2]

Select item 149098604513.

rs1490986045 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:85036339 (GRCh38)
16:85069945 (GRCh37)
Canonical SPDI:: NC_000016.10:85036338:C:G
Gene:: KIAA0513 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.85036339C>G, NC_000016.9:g.85069945C>G

Select item 149097731814.

rs1490977318 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 16:85027103 (GRCh38)
16:85060709 (GRCh37)
Canonical SPDI:: NC_000016.10:85027102:C:A
Gene:: KIAA0513 (Varview), ZDHHC7 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000016.10:g.85027103C>A, NC_000016.9:g.85060709C>A

Select item 149097494315.

rs1490974943 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 16:85074175 (GRCh38)
16:85107781 (GRCh37)
Canonical SPDI:: NC_000016.10:85074174:A:G,NC_000016.10:85074174:A:T
Gene:: KIAA0513 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.00016/1 (1000Genomes)
HGVS:: NC_000016.10:g.85074175A>G, NC_000016.10:g.85074175A>T, NC_000016.9:g.85107781A>G, NC_000016.9:g.85107781A>T

Select item 149097059716.

rs1490970597 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:85036291 (GRCh38)
16:85069897 (GRCh37)
Canonical SPDI:: NC_000016.10:85036290:A:G
Gene:: KIAA0513 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_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_000016.10:g.85036291A>G, NC_000016.9:g.85069897A>G

Select item 149092253117.

rs1490922531 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:85047287 (GRCh38)
16:85080893 (GRCh37)
Canonical SPDI:: NC_000016.10:85047286:C:G,NC_000016.10:85047286:C:T
Gene:: KIAA0513 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_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_000016.10:g.85047287C>G, NC_000016.10:g.85047287C>T, NC_000016.9:g.85080893C>G, NC_000016.9:g.85080893C>T, XM_017023912.2:c.-1218C>G, XM_017023912.2:c.-1218C>T, XM_017023912.1:c.-1218C>G, XM_017023912.1:c.-1218C>T, XM_047434981.1:c.-605C>G, XM_047434981.1:c.-605C>T, XM_047434983.1:c.-605C>G, XM_047434983.1:c.-605C>T

Select item 149090703318.

rs1490907033 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:85044608 (GRCh38)
16:85078214 (GRCh37)
Canonical SPDI:: NC_000016.10:85044607:G:A
Gene:: KIAA0513 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.85044608G>A, NC_000016.9:g.85078214G>A

Select item 149085249219.

rs1490852492 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 16:85037032 (GRCh38)
16:85070638 (GRCh37)
Canonical SPDI:: NC_000016.10:85037031:C:G,NC_000016.10:85037031:C:T
Gene:: KIAA0513 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.85037032C>G, NC_000016.10:g.85037032C>T, NC_000016.9:g.85070638C>G, NC_000016.9:g.85070638C>T

Select item 149083486120.

rs1490834861 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:85091245 (GRCh38)
16:85124851 (GRCh37)
Canonical SPDI:: NC_000016.10:85091244:A:G
Gene:: KIAA0513 (Varview)
Functional Consequence:: 3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0.000084/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.85091245A>G, NC_000016.9:g.85124851A>G, NM_014732.4:c.*2920A>G, NM_014732.3:c.*2920A>G, NM_014732.2:c.*2920A>G, XM_017023912.2:c.*2920A>G, XM_017023912.1:c.*2920A>G, NM_001286566.2:c.*2920A>G, NM_001286566.1:c.*2920A>G, XM_047434981.1:c.*2920A>G, XM_047434983.1:c.*2920A>G, XM_047434982.1:c.*2920A>G, NM_001286565.1:c.*2920A>G, NM_001388359.1:c.*2920A>G, XM_047434984.1:c.*2920A>G

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