SNP Links for Gene (Select 80173) - SNP

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Select item 14915502001.

rs1491550200 [Homo sapiens]

Variant type:: DEL
Alleles:: TC>- [Show Flanks]
Chromosome:: 9:27005352 (GRCh38)
9:27005350 (GRCh37)
Canonical SPDI:: NC_000009.12:27005351:TC:
Gene:: LRRC19 (Varview), IFT74 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000009.12:g.27005352_27005353del, NC_000009.11:g.27005350_27005351del, NG_053083.1:g.63363_63364del

Select item 14914846852.

rs1491484685 has merged into rs11354662 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:27037229 (GRCh38)
9:27037227 (GRCh37)
Canonical SPDI:: NC_000009.12:27037220:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000009.12:27037220:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:27037220:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:27037220:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:27037220:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:27037220:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:27037220:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:27037220:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:27037220:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:27037220:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:27037220:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:27037220:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: IFT74 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000009.12:g.27037229_27037239del, NC_000009.12:g.27037233_27037239del, NC_000009.12:g.27037235_27037239del, NC_000009.12:g.27037236_27037239del, NC_000009.12:g.27037237_27037239del, NC_000009.12:g.27037238_27037239del, NC_000009.12:g.27037239del, NC_000009.12:g.27037239dup, NC_000009.12:g.27037238_27037239dup, NC_000009.12:g.27037237_27037239dup, NC_000009.12:g.27037236_27037239dup, NC_000009.12:g.27037235_27037239dup, NC_000009.11:g.27037227_27037237del, NC_000009.11:g.27037231_27037237del, NC_000009.11:g.27037233_27037237del, NC_000009.11:g.27037234_27037237del, NC_000009.11:g.27037235_27037237del, NC_000009.11:g.27037236_27037237del, NC_000009.11:g.27037237del, NC_000009.11:g.27037237dup, NC_000009.11:g.27037236_27037237dup, NC_000009.11:g.27037235_27037237dup, NC_000009.11:g.27037234_27037237dup, NC_000009.11:g.27037233_27037237dup, NG_053083.1:g.95240_95250del, NG_053083.1:g.95244_95250del, NG_053083.1:g.95246_95250del, NG_053083.1:g.95247_95250del, NG_053083.1:g.95248_95250del, NG_053083.1:g.95249_95250del, NG_053083.1:g.95250del, NG_053083.1:g.95250dup, NG_053083.1:g.95249_95250dup, NG_053083.1:g.95248_95250dup, NG_053083.1:g.95247_95250dup, NG_053083.1:g.95246_95250dup

Select item 14914530933.

rs1491453093 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 9:26948447 (GRCh38)
9:26948446 (GRCh37)
Canonical SPDI:: NC_000009.12:26948447:A:AA
Gene:: PLAA (Varview), IFT74 (Varview)
Functional Consequence:: upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: A=0.00001/1 (GnomAD)
HGVS:: NC_000009.12:g.26948448dup, NC_000009.11:g.26948446dup, NG_053083.1:g.6459dup

Select item 14914121844.

rs1491412184 has merged into rs1179000269 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTGTTTGGTTATTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 9:26999781 (GRCh38)
9:26999779 (GRCh37)
Canonical SPDI:: NC_000009.12:26999770:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000009.12:26999770:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:26999770:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:26999770:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:26999770:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000009.12:26999770:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000009.12:26999770:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000009.12:26999770:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000009.12:26999770:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000009.12:26999770:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000009.12:26999770:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000009.12:26999770:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:26999770:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTGTTTGGTTATTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:26999770:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:26999770:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:26999770:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:26999770:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:26999770:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:26999770:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:26999770:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:26999770:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:26999770:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:26999770:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:26999770:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:26999770:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:26999770:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000009.12:26999770:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: LRRC19 (Varview), IFT74 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000009.12:g.26999781_26999791del, NC_000009.12:g.26999782_26999791del, NC_000009.12:g.26999783_26999791del, NC_000009.12:g.26999784_26999791del, NC_000009.12:g.26999785_26999791del, NC_000009.12:g.26999786_26999791del, NC_000009.12:g.26999787_26999791del, NC_000009.12:g.26999788_26999791del, NC_000009.12:g.26999789_26999791del, NC_000009.12:g.26999790_26999791del, NC_000009.12:g.26999791del, NC_000009.12:g.26999791dup, NC_000009.12:g.26999771_26999791T[22]GTTTGGTTATTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.12:g.26999790_26999791dup, NC_000009.12:g.26999789_26999791dup, NC_000009.12:g.26999788_26999791dup, NC_000009.12:g.26999787_26999791dup, NC_000009.12:g.26999786_26999791dup, NC_000009.12:g.26999785_26999791dup, NC_000009.12:g.26999784_26999791dup, NC_000009.12:g.26999783_26999791dup, NC_000009.12:g.26999782_26999791dup, NC_000009.12:g.26999781_26999791dup, NC_000009.12:g.26999780_26999791dup, NC_000009.12:g.26999779_26999791dup, NC_000009.12:g.26999778_26999791dup, NC_000009.12:g.26999791_26999792insTTTTTTTTTTTTTTTTTTTTTTTT, NC_000009.11:g.26999779_26999789del, NC_000009.11:g.26999780_26999789del, NC_000009.11:g.26999781_26999789del, NC_000009.11:g.26999782_26999789del, NC_000009.11:g.26999783_26999789del, NC_000009.11:g.26999784_26999789del, NC_000009.11:g.26999785_26999789del, NC_000009.11:g.26999786_26999789del, NC_000009.11:g.26999787_26999789del, NC_000009.11:g.26999788_26999789del, NC_000009.11:g.26999789del, NC_000009.11:g.26999789dup, NC_000009.11:g.26999769_26999789T[22]GTTTGGTTATTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000009.11:g.26999788_26999789dup, NC_000009.11:g.26999787_26999789dup, NC_000009.11:g.26999786_26999789dup, NC_000009.11:g.26999785_26999789dup, NC_000009.11:g.26999784_26999789dup, NC_000009.11:g.26999783_26999789dup, NC_000009.11:g.26999782_26999789dup, NC_000009.11:g.26999781_26999789dup, NC_000009.11:g.26999780_26999789dup, NC_000009.11:g.26999779_26999789dup, NC_000009.11:g.26999778_26999789dup, NC_000009.11:g.26999777_26999789dup, NC_000009.11:g.26999776_26999789dup, NC_000009.11:g.26999789_26999790insTTTTTTTTTTTTTTTTTTTTTTTT, NG_053083.1:g.57792_57802del, NG_053083.1:g.57793_57802del, NG_053083.1:g.57794_57802del, NG_053083.1:g.57795_57802del, NG_053083.1:g.57796_57802del, NG_053083.1:g.57797_57802del, NG_053083.1:g.57798_57802del, NG_053083.1:g.57799_57802del, NG_053083.1:g.57800_57802del, NG_053083.1:g.57801_57802del, NG_053083.1:g.57802del, NG_053083.1:g.57802dup, NG_053083.1:g.57782_57802T[22]GTTTGGTTATTTTTTTTTTTTTTTTTTTTTTTT[1], NG_053083.1:g.57801_57802dup, NG_053083.1:g.57800_57802dup, NG_053083.1:g.57799_57802dup, NG_053083.1:g.57798_57802dup, NG_053083.1:g.57797_57802dup, NG_053083.1:g.57796_57802dup, NG_053083.1:g.57795_57802dup, NG_053083.1:g.57794_57802dup, NG_053083.1:g.57793_57802dup, NG_053083.1:g.57792_57802dup, NG_053083.1:g.57791_57802dup, NG_053083.1:g.57790_57802dup, NG_053083.1:g.57789_57802dup, NG_053083.1:g.57802_57803insTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914071885.

rs1491407188 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 9:26968265 (GRCh38)
9:26968263 (GRCh37)
Canonical SPDI:: NC_000009.12:26968264:AT:
Gene:: IFT74 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000046/6 (GnomAD)
HGVS:: NC_000009.12:g.26968265_26968266del, NC_000009.11:g.26968263_26968264del, NG_053083.1:g.26276_26277del

Select item 14913635376.

rs1491363537 has merged into rs1443234170 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCC>-,C,CC,CCCC,CCCCC,CCCCCC,CCCCCCC,CCCCCCCC,CCCCCCCCC,CCCCCCCCCC,CCCCCCCCCCC,CCCCCCCCCCCC,CCCCCCCCCCCCC,CCCCCCCCCCCCCC,CCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCC [Show Flanks]
Chromosome:: 9:27005358 (GRCh38)
9:27005356 (GRCh37)
Canonical SPDI:: NC_000009.12:27005352:CCCCCCCC:CCCCC,NC_000009.12:27005352:CCCCCCCC:CCCCCC,NC_000009.12:27005352:CCCCCCCC:CCCCCCC,NC_000009.12:27005352:CCCCCCCC:CCCCCCCCC,NC_000009.12:27005352:CCCCCCCC:CCCCCCCCCC,NC_000009.12:27005352:CCCCCCCC:CCCCCCCCCCC,NC_000009.12:27005352:CCCCCCCC:CCCCCCCCCCCC,NC_000009.12:27005352:CCCCCCCC:CCCCCCCCCCCCC,NC_000009.12:27005352:CCCCCCCC:CCCCCCCCCCCCCC,NC_000009.12:27005352:CCCCCCCC:CCCCCCCCCCCCCCC,NC_000009.12:27005352:CCCCCCCC:CCCCCCCCCCCCCCCC,NC_000009.12:27005352:CCCCCCCC:CCCCCCCCCCCCCCCCC,NC_000009.12:27005352:CCCCCCCC:CCCCCCCCCCCCCCCCCC,NC_000009.12:27005352:CCCCCCCC:CCCCCCCCCCCCCCCCCCC,NC_000009.12:27005352:CCCCCCCC:CCCCCCCCCCCCCCCCCCCC,NC_000009.12:27005352:CCCCCCCC:CCCCCCCCCCCCCCCCCCCCC
Gene:: LRRC19 (Varview), IFT74 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCC=0./0 (ALFA)
HGVS:: NC_000009.12:g.27005358_27005360del, NC_000009.12:g.27005359_27005360del, NC_000009.12:g.27005360del, NC_000009.12:g.27005360dup, NC_000009.12:g.27005359_27005360dup, NC_000009.12:g.27005358_27005360dup, NC_000009.12:g.27005357_27005360dup, NC_000009.12:g.27005356_27005360dup, NC_000009.12:g.27005355_27005360dup, NC_000009.12:g.27005354_27005360dup, NC_000009.12:g.27005353_27005360dup, NC_000009.12:g.27005360_27005361insCCCCCCCCC, NC_000009.12:g.27005360_27005361insCCCCCCCCCC, NC_000009.12:g.27005360_27005361insCCCCCCCCCCC, NC_000009.12:g.27005360_27005361insCCCCCCCCCCCC, NC_000009.12:g.27005360_27005361insCCCCCCCCCCCCC, NC_000009.11:g.27005356_27005358del, NC_000009.11:g.27005357_27005358del, NC_000009.11:g.27005358del, NC_000009.11:g.27005358dup, NC_000009.11:g.27005357_27005358dup, NC_000009.11:g.27005356_27005358dup, NC_000009.11:g.27005355_27005358dup, NC_000009.11:g.27005354_27005358dup, NC_000009.11:g.27005353_27005358dup, NC_000009.11:g.27005352_27005358dup, NC_000009.11:g.27005351_27005358dup, NC_000009.11:g.27005358_27005359insCCCCCCCCC, NC_000009.11:g.27005358_27005359insCCCCCCCCCC, NC_000009.11:g.27005358_27005359insCCCCCCCCCCC, NC_000009.11:g.27005358_27005359insCCCCCCCCCCCC, NC_000009.11:g.27005358_27005359insCCCCCCCCCCCCC, NG_053083.1:g.63369_63371del, NG_053083.1:g.63370_63371del, NG_053083.1:g.63371del, NG_053083.1:g.63371dup, NG_053083.1:g.63370_63371dup, NG_053083.1:g.63369_63371dup, NG_053083.1:g.63368_63371dup, NG_053083.1:g.63367_63371dup, NG_053083.1:g.63366_63371dup, NG_053083.1:g.63365_63371dup, NG_053083.1:g.63364_63371dup, NG_053083.1:g.63371_63372insCCCCCCCCC, NG_053083.1:g.63371_63372insCCCCCCCCCC, NG_053083.1:g.63371_63372insCCCCCCCCCCC, NG_053083.1:g.63371_63372insCCCCCCCCCCCC, NG_053083.1:g.63371_63372insCCCCCCCCCCCCC

Select item 14913633857.

rs1491363385 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 9:27006832 (GRCh38)
9:27006831 (GRCh37)
Canonical SPDI:: NC_000009.12:27006832::G
Gene:: LRRC19 (Varview), IFT74 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0.00017/2 (ALFA)
HGVS:: NC_000009.12:g.27006832_27006833insG, NC_000009.11:g.27006830_27006831insG, NG_053083.1:g.64843_64844insG

Select item 14913432128.

rs1491343212 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 9:27025443 (GRCh38)
9:27025441 (GRCh37)
Canonical SPDI:: NC_000009.12:27025442:CA:
Gene:: IFT74 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000009.12:g.27025443_27025444del, NC_000009.11:g.27025441_27025442del, NG_053083.1:g.83454_83455del

Select item 14913428899.

rs1491342889 has merged into rs60150925 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:27030557 (GRCh38)
9:27030555 (GRCh37)
Canonical SPDI:: NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:27030547:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: IFT74 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
A=0.3229/1617 (1000Genomes)
HGVS:: NC_000009.12:g.27030557_27030565del, NC_000009.12:g.27030559_27030565del, NC_000009.12:g.27030560_27030565del, NC_000009.12:g.27030561_27030565del, NC_000009.12:g.27030562_27030565del, NC_000009.12:g.27030563_27030565del, NC_000009.12:g.27030564_27030565del, NC_000009.12:g.27030565del, NC_000009.12:g.27030565dup, NC_000009.12:g.27030564_27030565dup, NC_000009.12:g.27030563_27030565dup, NC_000009.12:g.27030562_27030565dup, NC_000009.12:g.27030559_27030565dup, NC_000009.11:g.27030555_27030563del, NC_000009.11:g.27030557_27030563del, NC_000009.11:g.27030558_27030563del, NC_000009.11:g.27030559_27030563del, NC_000009.11:g.27030560_27030563del, NC_000009.11:g.27030561_27030563del, NC_000009.11:g.27030562_27030563del, NC_000009.11:g.27030563del, NC_000009.11:g.27030563dup, NC_000009.11:g.27030562_27030563dup, NC_000009.11:g.27030561_27030563dup, NC_000009.11:g.27030560_27030563dup, NC_000009.11:g.27030557_27030563dup, NG_053083.1:g.88568_88576del, NG_053083.1:g.88570_88576del, NG_053083.1:g.88571_88576del, NG_053083.1:g.88572_88576del, NG_053083.1:g.88573_88576del, NG_053083.1:g.88574_88576del, NG_053083.1:g.88575_88576del, NG_053083.1:g.88576del, NG_053083.1:g.88576dup, NG_053083.1:g.88575_88576dup, NG_053083.1:g.88574_88576dup, NG_053083.1:g.88573_88576dup, NG_053083.1:g.88570_88576dup

Select item 149134109810.

rs1491341098 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 9:26999791 (GRCh38)
9:26999789 (GRCh37)
Canonical SPDI:: NC_000009.12:26999790:TG:
Gene:: LRRC19 (Varview), IFT74 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.26999791_26999792del, NC_000009.11:g.26999789_26999790del, NG_053083.1:g.57802_57803del

Select item 149133592211.

rs1491335922 has merged into rs752655360 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAACACCACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:27060973 (GRCh38)
9:27060971 (GRCh37)
Canonical SPDI:: NC_000009.12:27060961:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000009.12:27060961:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:27060961:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000009.12:27060961:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:27060961:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:27060961:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:27060961:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:27060961:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:27060961:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000009.12:27060961:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:27060961:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:27060961:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:27060961:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:27060961:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:27060961:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:27060961:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:27060961:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:27060961:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:27060961:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:27060961:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:27060961:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:27060961:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:27060961:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:27060961:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:27060961:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:27060961:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:27060961:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:27060961:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:27060961:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:27060961:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:27060961:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:27060961:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:27060961:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:27060961:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:27060961:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:27060961:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACACCACAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: IFT74 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.025/1 (GENOME_DK)
HGVS:: NC_000009.12:g.27060973_27060991del, NC_000009.12:g.27060974_27060991del, NC_000009.12:g.27060975_27060991del, NC_000009.12:g.27060976_27060991del, NC_000009.12:g.27060977_27060991del, NC_000009.12:g.27060978_27060991del, NC_000009.12:g.27060979_27060991del, NC_000009.12:g.27060980_27060991del, NC_000009.12:g.27060981_27060991del, NC_000009.12:g.27060982_27060991del, NC_000009.12:g.27060983_27060991del, NC_000009.12:g.27060984_27060991del, NC_000009.12:g.27060985_27060991del, NC_000009.12:g.27060986_27060991del, NC_000009.12:g.27060987_27060991del, NC_000009.12:g.27060988_27060991del, NC_000009.12:g.27060989_27060991del, NC_000009.12:g.27060990_27060991del, NC_000009.12:g.27060991del, NC_000009.12:g.27060991dup, NC_000009.12:g.27060990_27060991dup, NC_000009.12:g.27060989_27060991dup, NC_000009.12:g.27060988_27060991dup, NC_000009.12:g.27060987_27060991dup, NC_000009.12:g.27060986_27060991dup, NC_000009.12:g.27060985_27060991dup, NC_000009.12:g.27060984_27060991dup, NC_000009.12:g.27060983_27060991dup, NC_000009.12:g.27060982_27060991dup, NC_000009.12:g.27060981_27060991dup, NC_000009.12:g.27060979_27060991dup, NC_000009.12:g.27060978_27060991dup, NC_000009.12:g.27060977_27060991dup, NC_000009.12:g.27060971_27060991dup, NC_000009.12:g.27060991_27060992insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.12:g.27060962_27060991A[39]CAC[2]A[33], NC_000009.11:g.27060971_27060989del, NC_000009.11:g.27060972_27060989del, NC_000009.11:g.27060973_27060989del, NC_000009.11:g.27060974_27060989del, NC_000009.11:g.27060975_27060989del, NC_000009.11:g.27060976_27060989del, NC_000009.11:g.27060977_27060989del, NC_000009.11:g.27060978_27060989del, NC_000009.11:g.27060979_27060989del, NC_000009.11:g.27060980_27060989del, NC_000009.11:g.27060981_27060989del, NC_000009.11:g.27060982_27060989del, NC_000009.11:g.27060983_27060989del, NC_000009.11:g.27060984_27060989del, NC_000009.11:g.27060985_27060989del, NC_000009.11:g.27060986_27060989del, NC_000009.11:g.27060987_27060989del, NC_000009.11:g.27060988_27060989del, NC_000009.11:g.27060989del, NC_000009.11:g.27060989dup, NC_000009.11:g.27060988_27060989dup, NC_000009.11:g.27060987_27060989dup, NC_000009.11:g.27060986_27060989dup, NC_000009.11:g.27060985_27060989dup, NC_000009.11:g.27060984_27060989dup, NC_000009.11:g.27060983_27060989dup, NC_000009.11:g.27060982_27060989dup, NC_000009.11:g.27060981_27060989dup, NC_000009.11:g.27060980_27060989dup, NC_000009.11:g.27060979_27060989dup, NC_000009.11:g.27060977_27060989dup, NC_000009.11:g.27060976_27060989dup, NC_000009.11:g.27060975_27060989dup, NC_000009.11:g.27060969_27060989dup, NC_000009.11:g.27060989_27060990insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000009.11:g.27060960_27060989A[39]CAC[2]A[33], NG_053083.1:g.118984_119002del, NG_053083.1:g.118985_119002del, NG_053083.1:g.118986_119002del, NG_053083.1:g.118987_119002del, NG_053083.1:g.118988_119002del, NG_053083.1:g.118989_119002del, NG_053083.1:g.118990_119002del, NG_053083.1:g.118991_119002del, NG_053083.1:g.118992_119002del, NG_053083.1:g.118993_119002del, NG_053083.1:g.118994_119002del, NG_053083.1:g.118995_119002del, NG_053083.1:g.118996_119002del, NG_053083.1:g.118997_119002del, NG_053083.1:g.118998_119002del, NG_053083.1:g.118999_119002del, NG_053083.1:g.119000_119002del, NG_053083.1:g.119001_119002del, NG_053083.1:g.119002del, NG_053083.1:g.119002dup, NG_053083.1:g.119001_119002dup, NG_053083.1:g.119000_119002dup, NG_053083.1:g.118999_119002dup, NG_053083.1:g.118998_119002dup, NG_053083.1:g.118997_119002dup, NG_053083.1:g.118996_119002dup, NG_053083.1:g.118995_119002dup, NG_053083.1:g.118994_119002dup, NG_053083.1:g.118993_119002dup, NG_053083.1:g.118992_119002dup, NG_053083.1:g.118990_119002dup, NG_053083.1:g.118989_119002dup, NG_053083.1:g.118988_119002dup, NG_053083.1:g.118982_119002dup, NG_053083.1:g.119002_119003insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NG_053083.1:g.118973_119002A[39]CAC[2]A[33]

Select item 149132967612.

rs1491329676 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 9:27060961 (GRCh38)
9:27060959 (GRCh37)
Canonical SPDI:: NC_000009.12:27060960:CA:
Gene:: IFT74 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.00004/1 (GnomAD)
HGVS:: NC_000009.12:g.27060961_27060962del, NC_000009.11:g.27060959_27060960del, NG_053083.1:g.118972_118973del

Select item 149129808713.

rs1491298087 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTTTT [Show Flanks]
Chromosome:: 9:27012709 (GRCh38)
9:27012708 (GRCh37)
Canonical SPDI:: NC_000009.12:27012709:TTTT:TTTTGTTTT
Gene:: IFT74 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTGTTTT=0.02605/309 (ALFA)
TTTTG=0.00105/15 (TOMMO)
TTTTG=0.00274/5 (Korea1K)
TTTTG=0.17484/5517 (GnomAD)
HGVS:: NC_000009.12:g.27012710_27012713T[4]GTTTT[1], NC_000009.11:g.27012708_27012711T[4]GTTTT[1], NG_053083.1:g.70721_70724T[4]GTTTT[1]

Select item 149129389914.

rs1491293899 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,G,T [Show Flanks]
Chromosome:: 9:27005362 (GRCh38)
9:27005361 (GRCh37)
Canonical SPDI:: NC_000009.12:27005362::A,NC_000009.12:27005362::G,NC_000009.12:27005362::T
Gene:: LRRC19 (Varview), IFT74 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.27005362_27005363insA, NC_000009.12:g.27005362_27005363insG, NC_000009.12:g.27005362_27005363insT, NC_000009.11:g.27005360_27005361insA, NC_000009.11:g.27005360_27005361insG, NC_000009.11:g.27005360_27005361insT, NG_053083.1:g.63373_63374insA, NG_053083.1:g.63373_63374insG, NG_053083.1:g.63373_63374insT

Select item 149128335815.

rs1491283358 has merged into rs11354662 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 9:27037229 (GRCh38)
9:27037227 (GRCh37)
Canonical SPDI:: NC_000009.12:27037220:AAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000009.12:27037220:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000009.12:27037220:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000009.12:27037220:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000009.12:27037220:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000009.12:27037220:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000009.12:27037220:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000009.12:27037220:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000009.12:27037220:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000009.12:27037220:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:27037220:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000009.12:27037220:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: IFT74 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000009.12:g.27037229_27037239del, NC_000009.12:g.27037233_27037239del, NC_000009.12:g.27037235_27037239del, NC_000009.12:g.27037236_27037239del, NC_000009.12:g.27037237_27037239del, NC_000009.12:g.27037238_27037239del, NC_000009.12:g.27037239del, NC_000009.12:g.27037239dup, NC_000009.12:g.27037238_27037239dup, NC_000009.12:g.27037237_27037239dup, NC_000009.12:g.27037236_27037239dup, NC_000009.12:g.27037235_27037239dup, NC_000009.11:g.27037227_27037237del, NC_000009.11:g.27037231_27037237del, NC_000009.11:g.27037233_27037237del, NC_000009.11:g.27037234_27037237del, NC_000009.11:g.27037235_27037237del, NC_000009.11:g.27037236_27037237del, NC_000009.11:g.27037237del, NC_000009.11:g.27037237dup, NC_000009.11:g.27037236_27037237dup, NC_000009.11:g.27037235_27037237dup, NC_000009.11:g.27037234_27037237dup, NC_000009.11:g.27037233_27037237dup, NG_053083.1:g.95240_95250del, NG_053083.1:g.95244_95250del, NG_053083.1:g.95246_95250del, NG_053083.1:g.95247_95250del, NG_053083.1:g.95248_95250del, NG_053083.1:g.95249_95250del, NG_053083.1:g.95250del, NG_053083.1:g.95250dup, NG_053083.1:g.95249_95250dup, NG_053083.1:g.95248_95250dup, NG_053083.1:g.95247_95250dup, NG_053083.1:g.95246_95250dup

Select item 149127412016.

rs1491274120 has merged into rs138335710 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAGAGA>-,GA,GAGA,GAGAGAGA,GAGAGAGAGA,GAGAGAGAGAGA [Show Flanks]
Chromosome:: 9:27006635 (GRCh38)
9:27006633 (GRCh37)
Canonical SPDI:: NC_000009.12:27006623:AGAGAGAGAGAGAGAGA:AGAGAGAGAGA,NC_000009.12:27006623:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGA,NC_000009.12:27006623:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGA,NC_000009.12:27006623:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGA,NC_000009.12:27006623:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGA,NC_000009.12:27006623:AGAGAGAGAGAGAGAGA:AGAGAGAGAGAGAGAGAGAGAGA
Gene:: LRRC19 (Varview), IFT74 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAGAGAGAGAGAGA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.015466/73 (1000Genomes)
AG=0.05/2 (GENOME_DK)
AG=0.068333/41 (NorthernSweden)
HGVS:: NC_000009.12:g.27006625GA[5], NC_000009.12:g.27006625GA[6], NC_000009.12:g.27006625GA[7], NC_000009.12:g.27006625GA[9], NC_000009.12:g.27006625GA[10], NC_000009.12:g.27006625GA[11], NC_000009.11:g.27006623GA[5], NC_000009.11:g.27006623GA[6], NC_000009.11:g.27006623GA[7], NC_000009.11:g.27006623GA[9], NC_000009.11:g.27006623GA[10], NC_000009.11:g.27006623GA[11], NG_053083.1:g.64636GA[5], NG_053083.1:g.64636GA[6], NG_053083.1:g.64636GA[7], NG_053083.1:g.64636GA[9], NG_053083.1:g.64636GA[10], NG_053083.1:g.64636GA[11]

Select item 149126588617.

rs1491265886 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 9:26999771 (GRCh38)
9:26999770 (GRCh37)
Canonical SPDI:: NC_000009.12:26999771::C
Gene:: LRRC19 (Varview), IFT74 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000009.12:g.26999771_26999772insC, NC_000009.11:g.26999769_26999770insC, NG_053083.1:g.57782_57783insC

Select item 149126430318.

rs1491264303 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 9:27036683 (GRCh38)
9:27036681 (GRCh37)
Canonical SPDI:: NC_000009.12:27036682:GA:
Gene:: IFT74 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.27036683_27036684del, NC_000009.11:g.27036681_27036682del, NG_053083.1:g.94694_94695del, NM_001099224.3:c.*169_*170del, NM_001099224.2:c.*169_*170del, NM_001099224.1:c.*169_*170del

Select item 149125441119.

rs1491254411 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 9:27061677 (GRCh38)
9:27061675 (GRCh37)
Canonical SPDI:: NC_000009.12:27061676:GT:
Gene:: IFT74 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000337/4 (ALFA)
-=0.000084/9 (GnomAD)
HGVS:: NC_000009.12:g.27061677_27061678del, NC_000009.11:g.27061675_27061676del, NG_053083.1:g.119688_119689del

Select item 149121681420.

rs1491216814 has merged into rs34472331 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT [Show Flanks]
Chromosome:: 9:26968277 (GRCh38)
9:26968275 (GRCh37)
Canonical SPDI:: NC_000009.12:26968265:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000009.12:26968265:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000009.12:26968265:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000009.12:26968265:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: IFT74 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.15167/91 (NorthernSweden)
-=0.175/7 (GENOME_DK)
T=0.30292/5077 (TOMMO)
-=0.34185/1712 (1000Genomes)
HGVS:: NC_000009.12:g.26968277_26968279del, NC_000009.12:g.26968278_26968279del, NC_000009.12:g.26968279del, NC_000009.12:g.26968279dup, NC_000009.11:g.26968275_26968277del, NC_000009.11:g.26968276_26968277del, NC_000009.11:g.26968277del, NC_000009.11:g.26968277dup, NG_053083.1:g.26288_26290del, NG_053083.1:g.26289_26290del, NG_053083.1:g.26290del, NG_053083.1:g.26290dup

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