SNP Links for Gene (Select 284086) - SNP

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Select item 14915564051.

rs1491556405 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 17:28732546 (GRCh38)
17:27059565 (GRCh37)
Canonical SPDI:: NC_000017.11:28732546::C
Gene:: NEK8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000017.11:g.28732546_28732547insC, NC_000017.10:g.27059564_27059565insC, NG_012263.1:g.8733_8734insC

Select item 14915371052.

rs1491537105 has merged into rs1054257308 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:28732554 (GRCh38)
17:27059572 (GRCh37)
Canonical SPDI:: NC_000017.11:28732545:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000017.11:28732545:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000017.11:28732545:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000017.11:28732545:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000017.11:28732545:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:28732545:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:28732545:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:28732545:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:28732545:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:28732545:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:28732545:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:28732545:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28732545:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28732545:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28732545:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28732545:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28732545:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28732545:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28732545:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28732545:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28732545:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28732545:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28732545:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28732545:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28732545:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28732545:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28732545:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28732545:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28732545:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28732545:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28732545:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28732545:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NEK8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
HGVS:: NC_000017.11:g.28732554_28732569del, NC_000017.11:g.28732555_28732569del, NC_000017.11:g.28732556_28732569del, NC_000017.11:g.28732557_28732569del, NC_000017.11:g.28732558_28732569del, NC_000017.11:g.28732559_28732569del, NC_000017.11:g.28732560_28732569del, NC_000017.11:g.28732561_28732569del, NC_000017.11:g.28732562_28732569del, NC_000017.11:g.28732563_28732569del, NC_000017.11:g.28732566_28732569del, NC_000017.11:g.28732567_28732569del, NC_000017.11:g.28732568_28732569del, NC_000017.11:g.28732569del, NC_000017.11:g.28732569dup, NC_000017.11:g.28732568_28732569dup, NC_000017.11:g.28732567_28732569dup, NC_000017.11:g.28732566_28732569dup, NC_000017.11:g.28732565_28732569dup, NC_000017.11:g.28732564_28732569dup, NC_000017.11:g.28732563_28732569dup, NC_000017.11:g.28732562_28732569dup, NC_000017.11:g.28732561_28732569dup, NC_000017.11:g.28732560_28732569dup, NC_000017.11:g.28732559_28732569dup, NC_000017.11:g.28732558_28732569dup, NC_000017.11:g.28732557_28732569dup, NC_000017.11:g.28732556_28732569dup, NC_000017.11:g.28732555_28732569dup, NC_000017.11:g.28732554_28732569dup, NC_000017.11:g.28732553_28732569dup, NC_000017.11:g.28732551_28732569dup, NC_000017.10:g.27059572_27059587del, NC_000017.10:g.27059573_27059587del, NC_000017.10:g.27059574_27059587del, NC_000017.10:g.27059575_27059587del, NC_000017.10:g.27059576_27059587del, NC_000017.10:g.27059577_27059587del, NC_000017.10:g.27059578_27059587del, NC_000017.10:g.27059579_27059587del, NC_000017.10:g.27059580_27059587del, NC_000017.10:g.27059581_27059587del, NC_000017.10:g.27059584_27059587del, NC_000017.10:g.27059585_27059587del, NC_000017.10:g.27059586_27059587del, NC_000017.10:g.27059587del, NC_000017.10:g.27059587dup, NC_000017.10:g.27059586_27059587dup, NC_000017.10:g.27059585_27059587dup, NC_000017.10:g.27059584_27059587dup, NC_000017.10:g.27059583_27059587dup, NC_000017.10:g.27059582_27059587dup, NC_000017.10:g.27059581_27059587dup, NC_000017.10:g.27059580_27059587dup, NC_000017.10:g.27059579_27059587dup, NC_000017.10:g.27059578_27059587dup, NC_000017.10:g.27059577_27059587dup, NC_000017.10:g.27059576_27059587dup, NC_000017.10:g.27059575_27059587dup, NC_000017.10:g.27059574_27059587dup, NC_000017.10:g.27059573_27059587dup, NC_000017.10:g.27059572_27059587dup, NC_000017.10:g.27059571_27059587dup, NC_000017.10:g.27059569_27059587dup, NG_012263.1:g.8741_8756del, NG_012263.1:g.8742_8756del, NG_012263.1:g.8743_8756del, NG_012263.1:g.8744_8756del, NG_012263.1:g.8745_8756del, NG_012263.1:g.8746_8756del, NG_012263.1:g.8747_8756del, NG_012263.1:g.8748_8756del, NG_012263.1:g.8749_8756del, NG_012263.1:g.8750_8756del, NG_012263.1:g.8753_8756del, NG_012263.1:g.8754_8756del, NG_012263.1:g.8755_8756del, NG_012263.1:g.8756del, NG_012263.1:g.8756dup, NG_012263.1:g.8755_8756dup, NG_012263.1:g.8754_8756dup, NG_012263.1:g.8753_8756dup, NG_012263.1:g.8752_8756dup, NG_012263.1:g.8751_8756dup, NG_012263.1:g.8750_8756dup, NG_012263.1:g.8749_8756dup, NG_012263.1:g.8748_8756dup, NG_012263.1:g.8747_8756dup, NG_012263.1:g.8746_8756dup, NG_012263.1:g.8745_8756dup, NG_012263.1:g.8744_8756dup, NG_012263.1:g.8743_8756dup, NG_012263.1:g.8742_8756dup, NG_012263.1:g.8741_8756dup, NG_012263.1:g.8740_8756dup, NG_012263.1:g.8738_8756dup

Select item 14915135683.

rs1491513568 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 17:28729532 (GRCh38)
17:27056550 (GRCh37)
Canonical SPDI:: NC_000017.11:28729531:AT:
Gene:: TLCD1 (Varview), NEK8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00004/4 (GnomAD)
-=0.00007/2 (TOMMO)
HGVS:: NC_000017.11:g.28729532_28729533del, NC_000017.10:g.27056550_27056551del, NG_012263.1:g.5719_5720del

Select item 14914691074.

rs1491469107 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 17:28729556 (GRCh38)
17:27056574 (GRCh37)
Canonical SPDI:: NC_000017.11:28729555:TG:
Gene:: TLCD1 (Varview), NEK8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000017.11:g.28729556_28729557del, NC_000017.10:g.27056574_27056575del, NG_012263.1:g.5743_5744del

Select item 14911075125.

rs1491107512 has merged into rs10523946 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:28729541 (GRCh38)
17:27056559 (GRCh37)
Canonical SPDI:: NC_000017.11:28729532:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000017.11:28729532:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000017.11:28729532:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:28729532:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:28729532:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:28729532:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:28729532:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:28729532:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:28729532:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:28729532:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:28729532:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28729532:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28729532:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28729532:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28729532:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28729532:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28729532:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28729532:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28729532:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28729532:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28729532:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28729532:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28729532:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28729532:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28729532:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: TLCD1 (Varview), NEK8 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.0433/167 (ALSPAC)
TTT=0.4457/2232 (1000Genomes)
HGVS:: NC_000017.11:g.28729541_28729556del, NC_000017.11:g.28729545_28729556del, NC_000017.11:g.28729546_28729556del, NC_000017.11:g.28729547_28729556del, NC_000017.11:g.28729548_28729556del, NC_000017.11:g.28729549_28729556del, NC_000017.11:g.28729550_28729556del, NC_000017.11:g.28729551_28729556del, NC_000017.11:g.28729552_28729556del, NC_000017.11:g.28729553_28729556del, NC_000017.11:g.28729554_28729556del, NC_000017.11:g.28729555_28729556del, NC_000017.11:g.28729556del, NC_000017.11:g.28729556dup, NC_000017.11:g.28729555_28729556dup, NC_000017.11:g.28729554_28729556dup, NC_000017.11:g.28729553_28729556dup, NC_000017.11:g.28729552_28729556dup, NC_000017.11:g.28729551_28729556dup, NC_000017.11:g.28729550_28729556dup, NC_000017.11:g.28729547_28729556dup, NC_000017.11:g.28729540_28729556dup, NC_000017.11:g.28729539_28729556dup, NC_000017.11:g.28729556_28729557insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.11:g.28729556_28729557insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.27056559_27056574del, NC_000017.10:g.27056563_27056574del, NC_000017.10:g.27056564_27056574del, NC_000017.10:g.27056565_27056574del, NC_000017.10:g.27056566_27056574del, NC_000017.10:g.27056567_27056574del, NC_000017.10:g.27056568_27056574del, NC_000017.10:g.27056569_27056574del, NC_000017.10:g.27056570_27056574del, NC_000017.10:g.27056571_27056574del, NC_000017.10:g.27056572_27056574del, NC_000017.10:g.27056573_27056574del, NC_000017.10:g.27056574del, NC_000017.10:g.27056574dup, NC_000017.10:g.27056573_27056574dup, NC_000017.10:g.27056572_27056574dup, NC_000017.10:g.27056571_27056574dup, NC_000017.10:g.27056570_27056574dup, NC_000017.10:g.27056569_27056574dup, NC_000017.10:g.27056568_27056574dup, NC_000017.10:g.27056565_27056574dup, NC_000017.10:g.27056558_27056574dup, NC_000017.10:g.27056557_27056574dup, NC_000017.10:g.27056574_27056575insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.27056574_27056575insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012263.1:g.5728_5743del, NG_012263.1:g.5732_5743del, NG_012263.1:g.5733_5743del, NG_012263.1:g.5734_5743del, NG_012263.1:g.5735_5743del, NG_012263.1:g.5736_5743del, NG_012263.1:g.5737_5743del, NG_012263.1:g.5738_5743del, NG_012263.1:g.5739_5743del, NG_012263.1:g.5740_5743del, NG_012263.1:g.5741_5743del, NG_012263.1:g.5742_5743del, NG_012263.1:g.5743del, NG_012263.1:g.5743dup, NG_012263.1:g.5742_5743dup, NG_012263.1:g.5741_5743dup, NG_012263.1:g.5740_5743dup, NG_012263.1:g.5739_5743dup, NG_012263.1:g.5738_5743dup, NG_012263.1:g.5737_5743dup, NG_012263.1:g.5734_5743dup, NG_012263.1:g.5727_5743dup, NG_012263.1:g.5726_5743dup, NG_012263.1:g.5743_5744insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012263.1:g.5743_5744insTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14910588996.

rs1491058899 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCGCCGGAGCGC [Show Flanks]
Chromosome:: 17:28726019 (GRCh38)
17:27053038 (GRCh37)
Canonical SPDI:: NC_000017.11:28726019:GAGCGCGCGCCGGAGCGC:GAGCGCGCGCCGGAGCGCGCGCCGGAGCGC
Gene:: TLCD1 (Varview)
Functional Consequence:: inframe_insertion,coding_sequence_variant,intron_variant
HGVS:: NC_000017.11:g.28726026_28726037dup, NC_000017.10:g.27053044_27053055dup, NG_012263.1:g.2213_2224dup, NM_138463.4:c.67_78dup, NM_138463.3:c.67_78dup, XM_011524278.4:c.67_78dup, XM_011524278.3:c.67_78dup, XM_011524278.2:c.67_78dup, XM_011524278.1:c.67_78dup, NP_612472.1:p.Arg23_Leu26dup, XP_011522580.1:p.Arg23_Leu26dup

Select item 14906100377.

rs1490610037 [Homo sapiens]

Variant type:: SNV:
Alleles:: G>A
Chromosome:: no mapping
Canonical SPDI:

Select item 14905592178.

rs1490559217 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:28733748 (GRCh38)
17:27060766 (GRCh37)
Canonical SPDI:: NC_000017.11:28733747:G:A
Gene:: NEK8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0./0 (GnomAD)
HGVS:: NC_000017.11:g.28733748G>A, NC_000017.10:g.27060766G>A, NG_012263.1:g.9935G>A

Select item 14905399699.

rs1490539969 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCTGCCCATCCCCCTGCCCCTGCAGGC>- [Show Flanks]
Chromosome:: 17:28738070 (GRCh38)
17:27065088 (GRCh37)
Canonical SPDI:: NC_000017.11:28738064:CAGGCGCTGCCCATCCCCCTGCCCCTGCAGGC:CAGGC
Gene:: NEK8 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,splice_acceptor_variant
Validated:: by frequency,by alfa
MAF:: CAGGC=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.28738070_28738096del, NC_000017.10:g.27065088_27065114del, NG_012263.1:g.14257_14283del

Select item 149052704010.

rs1490527040 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:28726629 (GRCh38)
17:27053647 (GRCh37)
Canonical SPDI:: NC_000017.11:28726628:C:A
Gene:: TLCD1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000017.11:g.28726629C>A, NC_000017.10:g.27053647C>A, NG_012263.1:g.2816C>A

Select item 149011098911.

rs1490110989 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28741635 (GRCh38)
17:27068653 (GRCh37)
Canonical SPDI:: NC_000017.11:28741634:C:T
Gene:: NEK8 (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_000017.11:g.28741635C>T, NC_000017.10:g.27068653C>T, NG_012263.1:g.17822C>T

Select item 148978966512.

rs1489789665 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28736730 (GRCh38)
17:27063748 (GRCh37)
Canonical SPDI:: NC_000017.11:28736729:C:T
Gene:: NEK8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.0051/23 (ALFA)
T=0.0188/55 (KOREAN)
HGVS:: NC_000017.11:g.28736730C>T, NC_000017.10:g.27063748C>T, NG_012263.1:g.12917C>T

Select item 148973815013.

rs1489738150 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:28734687 (GRCh38)
17:27061705 (GRCh37)
Canonical SPDI:: NC_000017.11:28734686:A:C
Gene:: NEK8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/1 (GnomAD)
HGVS:: NC_000017.11:g.28734687A>C, NC_000017.10:g.27061705A>C, NG_012263.1:g.10874A>C

Select item 148967269614.

rs1489672696 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 17:28734877 (GRCh38)
17:27061895 (GRCh37)
Canonical SPDI:: NC_000017.11:28734876:A:C
Gene:: NEK8 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.28734877A>C, NC_000017.10:g.27061895A>C, NG_012263.1:g.11064A>C, NM_178170.3:c.359A>C, NM_178170.2:c.359A>C, NP_835464.1:p.His120Pro

Select item 148957977915.

rs1489579779 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 17:28742642 (GRCh38)
17:27069660 (GRCh37)
Canonical SPDI:: NC_000017.11:28742641:T:A
Gene:: TRAF4 (Varview), NEK8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.28742642T>A, NC_000017.10:g.27069660T>A, NG_012263.1:g.18829T>A, NM_178170.3:c.*655T>A, NM_178170.2:c.*655T>A

Select item 148939376216.

rs1489393762 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:28731262 (GRCh38)
17:27058280 (GRCh37)
Canonical SPDI:: NC_000017.11:28731261:C:T
Gene:: NEK8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000142/2 (TOMMO)
HGVS:: NC_000017.11:g.28731262C>T, NC_000017.10:g.27058280C>T, NG_012263.1:g.7449C>T

Select item 148938448217.

rs1489384482 has merged into rs71135844 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 17:28731922 (GRCh38)
17:27058940 (GRCh37)
Canonical SPDI:: NC_000017.11:28731908:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000017.11:28731908:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000017.11:28731908:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000017.11:28731908:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000017.11:28731908:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000017.11:28731908:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000017.11:28731908:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000017.11:28731908:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000017.11:28731908:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28731908:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28731908:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28731908:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28731908:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28731908:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28731908:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28731908:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28731908:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28731908:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28731908:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28731908:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28731908:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28731908:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28731908:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28731908:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28731908:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28731908:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28731908:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28731908:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28731908:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28731908:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28731908:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28731908:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28731908:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28731908:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28731908:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28731908:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28731908:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28731908:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28731908:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28731908:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28731908:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28731908:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28731908:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000017.11:28731908:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NEK8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT=0.0034/2 (NorthernSweden)
HGVS:: NC_000017.11:g.28731922_28731948del, NC_000017.11:g.28731923_28731948del, NC_000017.11:g.28731924_28731948del, NC_000017.11:g.28731925_28731948del, NC_000017.11:g.28731926_28731948del, NC_000017.11:g.28731927_28731948del, NC_000017.11:g.28731928_28731948del, NC_000017.11:g.28731929_28731948del, NC_000017.11:g.28731930_28731948del, NC_000017.11:g.28731931_28731948del, NC_000017.11:g.28731932_28731948del, NC_000017.11:g.28731933_28731948del, NC_000017.11:g.28731934_28731948del, NC_000017.11:g.28731935_28731948del, NC_000017.11:g.28731936_28731948del, NC_000017.11:g.28731937_28731948del, NC_000017.11:g.28731938_28731948del, NC_000017.11:g.28731939_28731948del, NC_000017.11:g.28731940_28731948del, NC_000017.11:g.28731942_28731948del, NC_000017.11:g.28731943_28731948del, NC_000017.11:g.28731944_28731948del, NC_000017.11:g.28731945_28731948del, NC_000017.11:g.28731946_28731948del, NC_000017.11:g.28731947_28731948del, NC_000017.11:g.28731948del, NC_000017.11:g.28731948dup, NC_000017.11:g.28731947_28731948dup, NC_000017.11:g.28731946_28731948dup, NC_000017.11:g.28731945_28731948dup, NC_000017.11:g.28731944_28731948dup, NC_000017.11:g.28731943_28731948dup, NC_000017.11:g.28731942_28731948dup, NC_000017.11:g.28731941_28731948dup, NC_000017.11:g.28731940_28731948dup, NC_000017.11:g.28731939_28731948dup, NC_000017.11:g.28731938_28731948dup, NC_000017.11:g.28731937_28731948dup, NC_000017.11:g.28731936_28731948dup, NC_000017.11:g.28731933_28731948dup, NC_000017.11:g.28731931_28731948dup, NC_000017.11:g.28731930_28731948dup, NC_000017.11:g.28731929_28731948dup, NC_000017.11:g.28731948_28731949insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000017.10:g.27058940_27058966del, NC_000017.10:g.27058941_27058966del, NC_000017.10:g.27058942_27058966del, NC_000017.10:g.27058943_27058966del, NC_000017.10:g.27058944_27058966del, NC_000017.10:g.27058945_27058966del, NC_000017.10:g.27058946_27058966del, NC_000017.10:g.27058947_27058966del, NC_000017.10:g.27058948_27058966del, NC_000017.10:g.27058949_27058966del, NC_000017.10:g.27058950_27058966del, NC_000017.10:g.27058951_27058966del, NC_000017.10:g.27058952_27058966del, NC_000017.10:g.27058953_27058966del, NC_000017.10:g.27058954_27058966del, NC_000017.10:g.27058955_27058966del, NC_000017.10:g.27058956_27058966del, NC_000017.10:g.27058957_27058966del, NC_000017.10:g.27058958_27058966del, NC_000017.10:g.27058960_27058966del, NC_000017.10:g.27058961_27058966del, NC_000017.10:g.27058962_27058966del, NC_000017.10:g.27058963_27058966del, NC_000017.10:g.27058964_27058966del, NC_000017.10:g.27058965_27058966del, NC_000017.10:g.27058966del, NC_000017.10:g.27058966dup, NC_000017.10:g.27058965_27058966dup, NC_000017.10:g.27058964_27058966dup, NC_000017.10:g.27058963_27058966dup, NC_000017.10:g.27058962_27058966dup, NC_000017.10:g.27058961_27058966dup, NC_000017.10:g.27058960_27058966dup, NC_000017.10:g.27058959_27058966dup, NC_000017.10:g.27058958_27058966dup, NC_000017.10:g.27058957_27058966dup, NC_000017.10:g.27058956_27058966dup, NC_000017.10:g.27058955_27058966dup, NC_000017.10:g.27058954_27058966dup, NC_000017.10:g.27058951_27058966dup, NC_000017.10:g.27058949_27058966dup, NC_000017.10:g.27058948_27058966dup, NC_000017.10:g.27058947_27058966dup, NC_000017.10:g.27058966_27058967insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_012263.1:g.8109_8135del, NG_012263.1:g.8110_8135del, NG_012263.1:g.8111_8135del, NG_012263.1:g.8112_8135del, NG_012263.1:g.8113_8135del, NG_012263.1:g.8114_8135del, NG_012263.1:g.8115_8135del, NG_012263.1:g.8116_8135del, NG_012263.1:g.8117_8135del, NG_012263.1:g.8118_8135del, NG_012263.1:g.8119_8135del, NG_012263.1:g.8120_8135del, NG_012263.1:g.8121_8135del, NG_012263.1:g.8122_8135del, NG_012263.1:g.8123_8135del, NG_012263.1:g.8124_8135del, NG_012263.1:g.8125_8135del, NG_012263.1:g.8126_8135del, NG_012263.1:g.8127_8135del, NG_012263.1:g.8129_8135del, NG_012263.1:g.8130_8135del, NG_012263.1:g.8131_8135del, NG_012263.1:g.8132_8135del, NG_012263.1:g.8133_8135del, NG_012263.1:g.8134_8135del, NG_012263.1:g.8135del, NG_012263.1:g.8135dup, NG_012263.1:g.8134_8135dup, NG_012263.1:g.8133_8135dup, NG_012263.1:g.8132_8135dup, NG_012263.1:g.8131_8135dup, NG_012263.1:g.8130_8135dup, NG_012263.1:g.8129_8135dup, NG_012263.1:g.8128_8135dup, NG_012263.1:g.8127_8135dup, NG_012263.1:g.8126_8135dup, NG_012263.1:g.8125_8135dup, NG_012263.1:g.8124_8135dup, NG_012263.1:g.8123_8135dup, NG_012263.1:g.8120_8135dup, NG_012263.1:g.8118_8135dup, NG_012263.1:g.8117_8135dup, NG_012263.1:g.8116_8135dup, NG_012263.1:g.8135_8136insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 148904274418.

rs1489042744 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 17:28728848 (GRCh38)
17:27055866 (GRCh37)
Canonical SPDI:: NC_000017.11:28728847:G:A,NC_000017.11:28728847:G:T
Gene:: TLCD1 (Varview), NEK8 (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: T=0.000006/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.28728848G>A, NC_000017.11:g.28728848G>T, NC_000017.10:g.27055866G>A, NC_000017.10:g.27055866G>T, NG_012263.1:g.5035G>A, NG_012263.1:g.5035G>T, NM_178170.3:c.35G>A, NM_178170.3:c.35G>T, NM_178170.2:c.35G>A, NM_178170.2:c.35G>T, NP_835464.1:p.Arg12Lys, NP_835464.1:p.Arg12Ile

Select item 148884435619.

rs1488844356 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:28731486 (GRCh38)
17:27058504 (GRCh37)
Canonical SPDI:: NC_000017.11:28731485:C:G
Gene:: NEK8 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
G=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.28731486C>G, NC_000017.10:g.27058504C>G, NG_012263.1:g.7673C>G

Select item 148879219620.

rs1488792196 [Homo sapiens]

Variant type:: DELINS
Alleles:: TAT>- [Show Flanks]
Chromosome:: 17:28729230 (GRCh38)
17:27056248 (GRCh37)
Canonical SPDI:: NC_000017.11:28729227:ATTAT:AT
Gene:: TLCD1 (Varview), NEK8 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AT=0.000162/3 (ALFA)
-=0.000011/3 (TOPMED)
-=0.000036/5 (GnomAD)
-=0.000223/1 (Estonian)
HGVS:: NC_000017.11:g.28729230_28729232del, NC_000017.10:g.27056248_27056250del, NG_012263.1:g.5417_5419del

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