SNP Links for Gene (Select 92749) - SNP

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Select item 14914834571.

rs1491483457 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:26438087 (GRCh38)
2:26660955 (GRCh37)
Canonical SPDI:: NC_000002.12:26438086:CA:
Gene:: DRC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
HGVS:: NC_000002.12:g.26438087_26438088del, NC_000002.11:g.26660955_26660956del, NG_042824.1:g.41176_41177del

Select item 14914545182.

rs1491454518 has merged into rs397873833 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,TT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:26421567 (GRCh38)
2:26644435 (GRCh37)
Canonical SPDI:: NC_000002.12:26421557:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:26421557:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:26421557:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:26421557:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:26421557:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:26421557:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:26421557:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:26421557:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:26421557:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26421557:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26421557:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26421557:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DRC1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Clinical significance:: likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
-=0.21925/845 (ALSPAC)
-=0.22438/832 (TWINSUK)
T=0.325/13 (GENOME_DK)
HGVS:: NC_000002.12:g.26421567_26421577del, NC_000002.12:g.26421569_26421577del, NC_000002.12:g.26421571_26421577del, NC_000002.12:g.26421573_26421577del, NC_000002.12:g.26421574_26421577del, NC_000002.12:g.26421575_26421577del, NC_000002.12:g.26421576_26421577del, NC_000002.12:g.26421577del, NC_000002.12:g.26421577dup, NC_000002.12:g.26421576_26421577dup, NC_000002.12:g.26421575_26421577dup, NC_000002.12:g.26421574_26421577dup, NC_000002.11:g.26644435_26644445del, NC_000002.11:g.26644437_26644445del, NC_000002.11:g.26644439_26644445del, NC_000002.11:g.26644441_26644445del, NC_000002.11:g.26644442_26644445del, NC_000002.11:g.26644443_26644445del, NC_000002.11:g.26644444_26644445del, NC_000002.11:g.26644445del, NC_000002.11:g.26644445dup, NC_000002.11:g.26644444_26644445dup, NC_000002.11:g.26644443_26644445dup, NC_000002.11:g.26644442_26644445dup, NG_042824.1:g.24656_24666del, NG_042824.1:g.24658_24666del, NG_042824.1:g.24660_24666del, NG_042824.1:g.24662_24666del, NG_042824.1:g.24663_24666del, NG_042824.1:g.24664_24666del, NG_042824.1:g.24665_24666del, NG_042824.1:g.24666del, NG_042824.1:g.24666dup, NG_042824.1:g.24665_24666dup, NG_042824.1:g.24664_24666dup, NG_042824.1:g.24663_24666dup

Select item 14914485143.

rs1491448514 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATATA [Show Flanks]
Chromosome:: 2:26405654 (GRCh38)
2:26628523 (GRCh37)
Canonical SPDI:: NC_000002.12:26405654::A,NC_000002.12:26405654::ATATA
Gene:: DRC1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: ATATA=0./0 (ALFA)
A=0.00014/1 (GnomAD)
HGVS:: NC_000002.12:g.26405654_26405655insA, NC_000002.12:g.26405654_26405655insATATA, NC_000002.11:g.26628522_26628523insA, NC_000002.11:g.26628522_26628523insATATA, NG_042824.1:g.8743_8744insA, NG_042824.1:g.8743_8744insATATA

Select item 14914263054.

rs1491426305 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 2:26440319 (GRCh38)
2:26663187 (GRCh37)
Canonical SPDI:: NC_000002.12:26440317:TTT:T
Gene:: DRC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
-=0.00003/3 (GnomAD)
-=0.00004/1 (TOMMO)
HGVS:: NC_000002.12:g.26440319_26440320del, NC_000002.11:g.26663187_26663188del, NG_042824.1:g.43408_43409del

Select item 14914189115.

rs1491418911 has merged into rs1456276118 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:26418661 (GRCh38)
2:26641529 (GRCh37)
Canonical SPDI:: NC_000002.12:26418655:TATATAT:TATAT
Gene:: DRC1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TATAT=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000002.12:g.26418657AT[2], NC_000002.11:g.26641525AT[2], NG_042824.1:g.21746AT[2]

Select item 14914083716.

rs1491408371 [Homo sapiens]

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

Select item 14914053737.

rs1491405373 [Homo sapiens]

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

Select item 14913100928.

rs1491310092 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:26418656 (GRCh38)
2:26641525 (GRCh37)
Canonical SPDI:: NC_000002.12:26418656:A:AA
Gene:: DRC1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.00001/1 (GnomAD)
A=0.00011/2 (TOMMO)
HGVS:: NC_000002.12:g.26418657dup, NC_000002.11:g.26641525dup, NG_042824.1:g.21746dup

Select item 14912921249.

rs1491292124 has merged into rs59566642 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:26415945 (GRCh38)
2:26638813 (GRCh37)
Canonical SPDI:: NC_000002.12:26415935:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000002.12:26415935:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:26415935:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:26415935:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:26415935:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:26415935:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:26415935:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:26415935:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:26415935:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:26415935:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:26415935:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:26415935:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:26415935:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:26415935:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:26415935:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:26415935:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DRC1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
-=0.2827/1416 (1000Genomes)
HGVS:: NC_000002.12:g.26415945_26415956del, NC_000002.12:g.26415946_26415956del, NC_000002.12:g.26415947_26415956del, NC_000002.12:g.26415949_26415956del, NC_000002.12:g.26415950_26415956del, NC_000002.12:g.26415951_26415956del, NC_000002.12:g.26415952_26415956del, NC_000002.12:g.26415953_26415956del, NC_000002.12:g.26415954_26415956del, NC_000002.12:g.26415955_26415956del, NC_000002.12:g.26415956del, NC_000002.12:g.26415956dup, NC_000002.12:g.26415955_26415956dup, NC_000002.12:g.26415954_26415956dup, NC_000002.12:g.26415953_26415956dup, NC_000002.12:g.26415952_26415956dup, NC_000002.11:g.26638813_26638824del, NC_000002.11:g.26638814_26638824del, NC_000002.11:g.26638815_26638824del, NC_000002.11:g.26638817_26638824del, NC_000002.11:g.26638818_26638824del, NC_000002.11:g.26638819_26638824del, NC_000002.11:g.26638820_26638824del, NC_000002.11:g.26638821_26638824del, NC_000002.11:g.26638822_26638824del, NC_000002.11:g.26638823_26638824del, NC_000002.11:g.26638824del, NC_000002.11:g.26638824dup, NC_000002.11:g.26638823_26638824dup, NC_000002.11:g.26638822_26638824dup, NC_000002.11:g.26638821_26638824dup, NC_000002.11:g.26638820_26638824dup, NG_042824.1:g.19034_19045del, NG_042824.1:g.19035_19045del, NG_042824.1:g.19036_19045del, NG_042824.1:g.19038_19045del, NG_042824.1:g.19039_19045del, NG_042824.1:g.19040_19045del, NG_042824.1:g.19041_19045del, NG_042824.1:g.19042_19045del, NG_042824.1:g.19043_19045del, NG_042824.1:g.19044_19045del, NG_042824.1:g.19045del, NG_042824.1:g.19045dup, NG_042824.1:g.19044_19045dup, NG_042824.1:g.19043_19045dup, NG_042824.1:g.19042_19045dup, NG_042824.1:g.19041_19045dup

Select item 149127624210.

rs1491276242 has merged into rs138497746 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 2:26440335 (GRCh38)
2:26663203 (GRCh37)
Canonical SPDI:: NC_000002.12:26440319:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000002.12:26440319:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000002.12:26440319:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000002.12:26440319:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000002.12:26440319:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:26440319:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:26440319:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:26440319:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:26440319:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:26440319:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:26440319:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000002.12:26440319:TGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: DRC1 (Varview)
Functional Consequence:: intron_variant
Clinical significance:: benign,likely-benign
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000002.12:g.26440321GT[7], NC_000002.12:g.26440321GT[8], NC_000002.12:g.26440321GT[9], NC_000002.12:g.26440321GT[10], NC_000002.12:g.26440321GT[11], NC_000002.12:g.26440321GT[12], NC_000002.12:g.26440321GT[14], NC_000002.12:g.26440321GT[15], NC_000002.12:g.26440321GT[16], NC_000002.12:g.26440321GT[17], NC_000002.12:g.26440321GT[18], NC_000002.12:g.26440321GT[19], NC_000002.11:g.26663189GT[7], NC_000002.11:g.26663189GT[8], NC_000002.11:g.26663189GT[9], NC_000002.11:g.26663189GT[10], NC_000002.11:g.26663189GT[11], NC_000002.11:g.26663189GT[12], NC_000002.11:g.26663189GT[14], NC_000002.11:g.26663189GT[15], NC_000002.11:g.26663189GT[16], NC_000002.11:g.26663189GT[17], NC_000002.11:g.26663189GT[18], NC_000002.11:g.26663189GT[19], NG_042824.1:g.43410GT[7], NG_042824.1:g.43410GT[8], NG_042824.1:g.43410GT[9], NG_042824.1:g.43410GT[10], NG_042824.1:g.43410GT[11], NG_042824.1:g.43410GT[12], NG_042824.1:g.43410GT[14], NG_042824.1:g.43410GT[15], NG_042824.1:g.43410GT[16], NG_042824.1:g.43410GT[17], NG_042824.1:g.43410GT[18], NG_042824.1:g.43410GT[19]

Select item 149123691211.

rs1491236912 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 2:26440318 (GRCh38)
2:26663187 (GRCh37)
Canonical SPDI:: NC_000002.12:26440318::G
Gene:: DRC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.00428/19 (ALFA)
G=0.00187/12 (1000Genomes)
G=0.00333/2 (NorthernSweden)
G=0.00545/447 (GnomAD)
HGVS:: NC_000002.12:g.26440318_26440319insG, NC_000002.11:g.26663186_26663187insG, NG_042824.1:g.43407_43408insG

Select item 149121211212.

rs1491212112 has merged into rs5830013 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:26430967 (GRCh38)
2:26653835 (GRCh37)
Canonical SPDI:: NC_000002.12:26430958:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000002.12:26430958:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000002.12:26430958:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:26430958:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:26430958:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:26430958:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:26430958:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:26430958:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:26430958:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:26430958:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:26430958:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26430958:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26430958:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26430958:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26430958:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26430958:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26430958:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26430958:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26430958:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26430958:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DRC1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,upstream_transcript_variant,intron_variant
Clinical significance:: likely-benign,benign
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
T=0.2921/1463 (1000Genomes)
HGVS:: NC_000002.12:g.26430967_26430978del, NC_000002.12:g.26430968_26430978del, NC_000002.12:g.26430969_26430978del, NC_000002.12:g.26430971_26430978del, NC_000002.12:g.26430972_26430978del, NC_000002.12:g.26430973_26430978del, NC_000002.12:g.26430974_26430978del, NC_000002.12:g.26430976_26430978del, NC_000002.12:g.26430977_26430978del, NC_000002.12:g.26430978del, NC_000002.12:g.26430978dup, NC_000002.12:g.26430977_26430978dup, NC_000002.12:g.26430976_26430978dup, NC_000002.12:g.26430975_26430978dup, NC_000002.12:g.26430974_26430978dup, NC_000002.12:g.26430973_26430978dup, NC_000002.12:g.26430972_26430978dup, NC_000002.12:g.26430968_26430978dup, NC_000002.12:g.26430967_26430978dup, NC_000002.12:g.26430966_26430978dup, NC_000002.11:g.26653835_26653846del, NC_000002.11:g.26653836_26653846del, NC_000002.11:g.26653837_26653846del, NC_000002.11:g.26653839_26653846del, NC_000002.11:g.26653840_26653846del, NC_000002.11:g.26653841_26653846del, NC_000002.11:g.26653842_26653846del, NC_000002.11:g.26653844_26653846del, NC_000002.11:g.26653845_26653846del, NC_000002.11:g.26653846del, NC_000002.11:g.26653846dup, NC_000002.11:g.26653845_26653846dup, NC_000002.11:g.26653844_26653846dup, NC_000002.11:g.26653843_26653846dup, NC_000002.11:g.26653842_26653846dup, NC_000002.11:g.26653841_26653846dup, NC_000002.11:g.26653840_26653846dup, NC_000002.11:g.26653836_26653846dup, NC_000002.11:g.26653835_26653846dup, NC_000002.11:g.26653834_26653846dup, NG_042824.1:g.34056_34067del, NG_042824.1:g.34057_34067del, NG_042824.1:g.34058_34067del, NG_042824.1:g.34060_34067del, NG_042824.1:g.34061_34067del, NG_042824.1:g.34062_34067del, NG_042824.1:g.34063_34067del, NG_042824.1:g.34065_34067del, NG_042824.1:g.34066_34067del, NG_042824.1:g.34067del, NG_042824.1:g.34067dup, NG_042824.1:g.34066_34067dup, NG_042824.1:g.34065_34067dup, NG_042824.1:g.34064_34067dup, NG_042824.1:g.34063_34067dup, NG_042824.1:g.34062_34067dup, NG_042824.1:g.34061_34067dup, NG_042824.1:g.34057_34067dup, NG_042824.1:g.34056_34067dup, NG_042824.1:g.34055_34067dup

Select item 149116647313.

rs1491166473 has merged into rs10601492 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,TTT,TTTT,TTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:26405662 (GRCh38)
2:26628530 (GRCh37)
Canonical SPDI:: NC_000002.12:26405653:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000002.12:26405653:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:26405653:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:26405653:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:26405653:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:26405653:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:26405653:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26405653:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26405653:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26405653:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26405653:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26405653:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26405653:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26405653:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26405653:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26405653:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26405653:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26405653:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26405653:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26405653:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26405653:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26405653:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26405653:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26405653:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26405653:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26405653:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DRC1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
-=0.4998/2503 (1000Genomes)
HGVS:: NC_000002.12:g.26405662_26405677del, NC_000002.12:g.26405665_26405677del, NC_000002.12:g.26405666_26405677del, NC_000002.12:g.26405669_26405677del, NC_000002.12:g.26405673_26405677del, NC_000002.12:g.26405674_26405677del, NC_000002.12:g.26405675_26405677del, NC_000002.12:g.26405676_26405677del, NC_000002.12:g.26405677del, NC_000002.12:g.26405677dup, NC_000002.12:g.26405676_26405677dup, NC_000002.12:g.26405675_26405677dup, NC_000002.12:g.26405674_26405677dup, NC_000002.12:g.26405673_26405677dup, NC_000002.12:g.26405672_26405677dup, NC_000002.12:g.26405671_26405677dup, NC_000002.12:g.26405670_26405677dup, NC_000002.12:g.26405669_26405677dup, NC_000002.12:g.26405663_26405677dup, NC_000002.12:g.26405677_26405678insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.26405677_26405678insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.26405677_26405678insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.26405677_26405678insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.26405677_26405678insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.26405677_26405678insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.12:g.26405677_26405678insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.26628530_26628545del, NC_000002.11:g.26628533_26628545del, NC_000002.11:g.26628534_26628545del, NC_000002.11:g.26628537_26628545del, NC_000002.11:g.26628541_26628545del, NC_000002.11:g.26628542_26628545del, NC_000002.11:g.26628543_26628545del, NC_000002.11:g.26628544_26628545del, NC_000002.11:g.26628545del, NC_000002.11:g.26628545dup, NC_000002.11:g.26628544_26628545dup, NC_000002.11:g.26628543_26628545dup, NC_000002.11:g.26628542_26628545dup, NC_000002.11:g.26628541_26628545dup, NC_000002.11:g.26628540_26628545dup, NC_000002.11:g.26628539_26628545dup, NC_000002.11:g.26628538_26628545dup, NC_000002.11:g.26628537_26628545dup, NC_000002.11:g.26628531_26628545dup, NC_000002.11:g.26628545_26628546insTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.26628545_26628546insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.26628545_26628546insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.26628545_26628546insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.26628545_26628546insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.26628545_26628546insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000002.11:g.26628545_26628546insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_042824.1:g.8751_8766del, NG_042824.1:g.8754_8766del, NG_042824.1:g.8755_8766del, NG_042824.1:g.8758_8766del, NG_042824.1:g.8762_8766del, NG_042824.1:g.8763_8766del, NG_042824.1:g.8764_8766del, NG_042824.1:g.8765_8766del, NG_042824.1:g.8766del, NG_042824.1:g.8766dup, NG_042824.1:g.8765_8766dup, NG_042824.1:g.8764_8766dup, NG_042824.1:g.8763_8766dup, NG_042824.1:g.8762_8766dup, NG_042824.1:g.8761_8766dup, NG_042824.1:g.8760_8766dup, NG_042824.1:g.8759_8766dup, NG_042824.1:g.8758_8766dup, NG_042824.1:g.8752_8766dup, NG_042824.1:g.8766_8767insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_042824.1:g.8766_8767insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_042824.1:g.8766_8767insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_042824.1:g.8766_8767insTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_042824.1:g.8766_8767insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_042824.1:g.8766_8767insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_042824.1:g.8766_8767insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149116174514.

rs1491161745 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TAAATTAT,TAT [Show Flanks]
Chromosome:: 2:26418566 (GRCh38)
2:26641435 (GRCh37)
Canonical SPDI:: NC_000002.12:26418566::T,NC_000002.12:26418566::TAAATTAT,NC_000002.12:26418566::TAT
Gene:: DRC1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TAAATTAT=0./0 (ALFA)
HGVS:: NC_000002.12:g.26418566_26418567insT, NC_000002.12:g.26418566_26418567insTAAATTAT, NC_000002.12:g.26418566_26418567insTAT, NC_000002.11:g.26641434_26641435insT, NC_000002.11:g.26641434_26641435insTAAATTAT, NC_000002.11:g.26641434_26641435insTAT, NG_042824.1:g.21655_21656insT, NG_042824.1:g.21655_21656insTAAATTAT, NG_042824.1:g.21655_21656insTAT

Select item 149108680315.

rs1491086803 has merged into rs35773772 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
Chromosome:: 2:26452104 (GRCh38)
2:26674972 (GRCh37)
Canonical SPDI:: NC_000002.12:26452093:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:26452093:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:26452093:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:26452093:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:26452093:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA
Gene:: DRC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.1352/521 (ALSPAC)
A=0.1413/524 (TWINSUK)
A=0.15/6 (GENOME_DK)
A=0.1801/107 (NorthernSweden)
HGVS:: NC_000002.12:g.26452104_26452106del, NC_000002.12:g.26452105_26452106del, NC_000002.12:g.26452106del, NC_000002.12:g.26452106dup, NC_000002.12:g.26452105_26452106dup, NC_000002.11:g.26674972_26674974del, NC_000002.11:g.26674973_26674974del, NC_000002.11:g.26674974del, NC_000002.11:g.26674974dup, NC_000002.11:g.26674973_26674974dup, NG_042824.1:g.55193_55195del, NG_042824.1:g.55194_55195del, NG_042824.1:g.55195del, NG_042824.1:g.55195dup, NG_042824.1:g.55194_55195dup

Select item 149104751416.

rs1491047514 has merged into rs5830010 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 2:26406824 (GRCh38)
2:26629692 (GRCh37)
Canonical SPDI:: NC_000002.12:26406813:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000002.12:26406813:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:26406813:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:26406813:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:26406813:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:26406813:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:26406813:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:26406813:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:26406813:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:26406813:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:26406813:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000002.12:26406813:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26406813:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26406813:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26406813:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26406813:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26406813:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26406813:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26406813:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26406813:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26406813:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000002.12:26406813:TTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DRC1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
TTTTTTTTTT=0./0 (GENOME_DK)
-=0.2426/1215 (1000Genomes)
HGVS:: NC_000002.12:g.26406824_26406835del, NC_000002.12:g.26406825_26406835del, NC_000002.12:g.26406826_26406835del, NC_000002.12:g.26406827_26406835del, NC_000002.12:g.26406828_26406835del, NC_000002.12:g.26406829_26406835del, NC_000002.12:g.26406830_26406835del, NC_000002.12:g.26406831_26406835del, NC_000002.12:g.26406832_26406835del, NC_000002.12:g.26406833_26406835del, NC_000002.12:g.26406834_26406835del, NC_000002.12:g.26406835del, NC_000002.12:g.26406835dup, NC_000002.12:g.26406834_26406835dup, NC_000002.12:g.26406833_26406835dup, NC_000002.12:g.26406832_26406835dup, NC_000002.12:g.26406831_26406835dup, NC_000002.12:g.26406830_26406835dup, NC_000002.12:g.26406829_26406835dup, NC_000002.12:g.26406828_26406835dup, NC_000002.12:g.26406827_26406835dup, NC_000002.12:g.26406826_26406835dup, NC_000002.11:g.26629692_26629703del, NC_000002.11:g.26629693_26629703del, NC_000002.11:g.26629694_26629703del, NC_000002.11:g.26629695_26629703del, NC_000002.11:g.26629696_26629703del, NC_000002.11:g.26629697_26629703del, NC_000002.11:g.26629698_26629703del, NC_000002.11:g.26629699_26629703del, NC_000002.11:g.26629700_26629703del, NC_000002.11:g.26629701_26629703del, NC_000002.11:g.26629702_26629703del, NC_000002.11:g.26629703del, NC_000002.11:g.26629703dup, NC_000002.11:g.26629702_26629703dup, NC_000002.11:g.26629701_26629703dup, NC_000002.11:g.26629700_26629703dup, NC_000002.11:g.26629699_26629703dup, NC_000002.11:g.26629698_26629703dup, NC_000002.11:g.26629697_26629703dup, NC_000002.11:g.26629696_26629703dup, NC_000002.11:g.26629695_26629703dup, NC_000002.11:g.26629694_26629703dup, NG_042824.1:g.9913_9924del, NG_042824.1:g.9914_9924del, NG_042824.1:g.9915_9924del, NG_042824.1:g.9916_9924del, NG_042824.1:g.9917_9924del, NG_042824.1:g.9918_9924del, NG_042824.1:g.9919_9924del, NG_042824.1:g.9920_9924del, NG_042824.1:g.9921_9924del, NG_042824.1:g.9922_9924del, NG_042824.1:g.9923_9924del, NG_042824.1:g.9924del, NG_042824.1:g.9924dup, NG_042824.1:g.9923_9924dup, NG_042824.1:g.9922_9924dup, NG_042824.1:g.9921_9924dup, NG_042824.1:g.9920_9924dup, NG_042824.1:g.9919_9924dup, NG_042824.1:g.9918_9924dup, NG_042824.1:g.9917_9924dup, NG_042824.1:g.9916_9924dup, NG_042824.1:g.9915_9924dup

Select item 149100427617.

rs1491004276 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 2:26455131 (GRCh38)
2:26677999 (GRCh37)
Canonical SPDI:: NC_000002.12:26455130:C:A,NC_000002.12:26455130:C:T
Gene:: DRC1 (Varview)
Functional Consequence:: synonymous_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: T=0.00004/1 (TOMMO)
A=0.00034/1 (KOREAN)
A=0.00055/1 (Korea1K)
HGVS:: NC_000002.12:g.26455131C>A, NC_000002.12:g.26455131C>T, NC_000002.11:g.26677999C>A, NC_000002.11:g.26677999C>T, NG_042824.1:g.58220C>A, NG_042824.1:g.58220C>T, NM_145038.5:c.2064C>A, NM_145038.5:c.2064C>T, NM_145038.4:c.2064C>A, NM_145038.4:c.2064C>T, NM_145038.3:c.2064C>A, NM_145038.3:c.2064C>T, NM_145038.2:c.2064C>A, NM_145038.2:c.2064C>T, XM_047446339.1:c.1044C>A, XM_047446339.1:c.1044C>T, NP_659475.2:p.His688Gln, XP_047302295.1:p.His348Gln

Select item 149093776418.

rs1490937764 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 2:26436883 (GRCh38)
2:26659751 (GRCh37)
Canonical SPDI:: NC_000002.12:26436882:G:A
Gene:: DRC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000002.12:g.26436883G>A, NC_000002.11:g.26659751G>A, NG_042824.1:g.39972G>A

Select item 149091767319.

rs1490917673 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 2:26413666 (GRCh38)
2:26636534 (GRCh37)
Canonical SPDI:: NC_000002.12:26413665:G:C
Gene:: DRC1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
HGVS:: NC_000002.12:g.26413666G>C, NC_000002.11:g.26636534G>C, NG_042824.1:g.16755G>C

Select item 149071590020.

rs1490715900 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA [Show Flanks]
Chromosome:: 2:26434889 (GRCh38)
2:26657758 (GRCh37)
Canonical SPDI:: NC_000002.12:26434889::A,NC_000002.12:26434889::AA
Gene:: DRC1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.00057/9 (TOMMO)
HGVS:: NC_000002.12:g.26434889_26434890insA, NC_000002.12:g.26434889_26434890insAA, NC_000002.11:g.26657757_26657758insA, NC_000002.11:g.26657757_26657758insAA, NG_042824.1:g.37978_37979insA, NG_042824.1:g.37978_37979insAA

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