SNP Links for Gene (Select 400757) - SNP

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Select item 14915295301.

rs1491529530 has merged into rs959252143 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 1:67123215 (GRCh38)
1:67588898 (GRCh37)
Canonical SPDI:: NC_000001.11:67123205:AAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:67123205:AAAAAAAAAAAA:AAAAAAAAAA,NC_000001.11:67123205:AAAAAAAAAAAA:AAAAAAAAAAA,NC_000001.11:67123205:AAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:67123205:AAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:67123205:AAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:67123205:AAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: C1orf141 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.67123215_67123217del, NC_000001.11:g.67123216_67123217del, NC_000001.11:g.67123217del, NC_000001.11:g.67123217dup, NC_000001.11:g.67123216_67123217dup, NC_000001.11:g.67123214_67123217dup, NC_000001.11:g.67123213_67123217dup, NC_000001.10:g.67588898_67588900del, NC_000001.10:g.67588899_67588900del, NC_000001.10:g.67588900del, NC_000001.10:g.67588900dup, NC_000001.10:g.67588899_67588900dup, NC_000001.10:g.67588897_67588900dup, NC_000001.10:g.67588896_67588900dup

Select item 14913889722.

rs1491388972 has merged into rs57508145 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 1:67102330 (GRCh38)
1:67568013 (GRCh37)
Canonical SPDI:: NC_000001.11:67102307:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:67102307:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:67102307:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:67102307:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:67102307:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:67102307:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:67102307:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:67102307:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:67102307:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:67102307:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:67102307:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:67102307:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:67102307:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:67102307:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:67102307:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:67102307:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:67102307:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000001.11:67102307:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: C1orf141 (Varview), LOC124900434 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
GTGT=0.3394/1308 (ALSPAC)
HGVS:: NC_000001.11:g.67102308GT[11], NC_000001.11:g.67102308GT[12], NC_000001.11:g.67102308GT[13], NC_000001.11:g.67102308GT[14], NC_000001.11:g.67102308GT[15], NC_000001.11:g.67102308GT[16], NC_000001.11:g.67102308GT[17], NC_000001.11:g.67102308GT[18], NC_000001.11:g.67102308GT[19], NC_000001.11:g.67102308GT[20], NC_000001.11:g.67102308GT[22], NC_000001.11:g.67102308GT[23], NC_000001.11:g.67102308GT[24], NC_000001.11:g.67102308GT[25], NC_000001.11:g.67102308GT[26], NC_000001.11:g.67102308GT[27], NC_000001.11:g.67102308GT[28], NC_000001.11:g.67102308GT[29], NC_000001.10:g.67567991GT[11], NC_000001.10:g.67567991GT[12], NC_000001.10:g.67567991GT[13], NC_000001.10:g.67567991GT[14], NC_000001.10:g.67567991GT[15], NC_000001.10:g.67567991GT[16], NC_000001.10:g.67567991GT[17], NC_000001.10:g.67567991GT[18], NC_000001.10:g.67567991GT[19], NC_000001.10:g.67567991GT[20], NC_000001.10:g.67567991GT[22], NC_000001.10:g.67567991GT[23], NC_000001.10:g.67567991GT[24], NC_000001.10:g.67567991GT[25], NC_000001.10:g.67567991GT[26], NC_000001.10:g.67567991GT[27], NC_000001.10:g.67567991GT[28], NC_000001.10:g.67567991GT[29]

Select item 14912462853.

rs1491246285 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:67105325 (GRCh38)
1:67571008 (GRCh37)
Canonical SPDI:: NC_000001.11:67105324:CA:
Gene:: C1orf141 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00143/17 (ALFA)
HGVS:: NC_000001.11:g.67105325_67105326del, NC_000001.10:g.67571008_67571009del

Select item 14912451744.

rs1491245174 has merged into rs3052331 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:67105335 (GRCh38)
1:67571018 (GRCh37)
Canonical SPDI:: NC_000001.11:67105325:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000001.11:67105325:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:67105325:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:67105325:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:67105325:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:67105325:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:67105325:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:67105325:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:67105325:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000001.11:67105325:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:67105325:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:67105325:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: C1orf141 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
A=0.2222/8 (GENOME_DK)
A=0.3688/1847 (1000Genomes)
HGVS:: NC_000001.11:g.67105335_67105345del, NC_000001.11:g.67105338_67105345del, NC_000001.11:g.67105339_67105345del, NC_000001.11:g.67105341_67105345del, NC_000001.11:g.67105342_67105345del, NC_000001.11:g.67105343_67105345del, NC_000001.11:g.67105344_67105345del, NC_000001.11:g.67105345del, NC_000001.11:g.67105345dup, NC_000001.11:g.67105344_67105345dup, NC_000001.11:g.67105343_67105345dup, NC_000001.11:g.67105345_67105346insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.67571018_67571028del, NC_000001.10:g.67571021_67571028del, NC_000001.10:g.67571022_67571028del, NC_000001.10:g.67571024_67571028del, NC_000001.10:g.67571025_67571028del, NC_000001.10:g.67571026_67571028del, NC_000001.10:g.67571027_67571028del, NC_000001.10:g.67571028del, NC_000001.10:g.67571028dup, NC_000001.10:g.67571027_67571028dup, NC_000001.10:g.67571026_67571028dup, NC_000001.10:g.67571028_67571029insAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14912275225.

rs1491227522 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 1:67102307 (GRCh38)
1:67567990 (GRCh37)
Canonical SPDI:: NC_000001.11:67102306:CG:
Gene:: C1orf141 (Varview), LOC124900434 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,500B_downstream_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.00001/1 (GnomAD)
HGVS:: NC_000001.11:g.67102307_67102308del, NC_000001.10:g.67567990_67567991del

Select item 14911398506.

rs1491139850 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 1:67123205 (GRCh38)
1:67588888 (GRCh37)
Canonical SPDI:: NC_000001.11:67123204:CA:
Gene:: C1orf141 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000001.11:g.67123205_67123206del, NC_000001.10:g.67588888_67588889del

Select item 14910629047.

rs1491062904 has merged into rs59519661 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAGGAAAAAAGGAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAATATGAAAAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAGAAAAAAAGAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 1:67135919 (GRCh38)
1:67601602 (GRCh37)
Canonical SPDI:: NC_000001.11:67135906:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000001.11:67135906:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000001.11:67135906:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000001.11:67135906:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000001.11:67135906:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000001.11:67135906:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000001.11:67135906:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000001.11:67135906:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000001.11:67135906:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000001.11:67135906:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:67135906:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:67135906:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:67135906:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:67135906:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:67135906:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:67135906:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:67135906:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:67135906:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:67135906:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:67135906:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:67135906:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:67135906:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:67135906:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:67135906:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:67135906:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:67135906:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:67135906:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:67135906:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:67135906:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:67135906:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:67135906:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:67135906:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:67135906:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:67135906:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:67135906:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:67135906:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:67135906:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:67135906:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:67135906:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:67135906:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:67135906:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:67135906:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:67135906:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:67135906:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATAGGAAAAAAGGAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:67135906:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATATGAAAAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000001.11:67135906:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAGAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: C1orf141 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000001.11:g.67135919_67135927del, NC_000001.11:g.67135920_67135927del, NC_000001.11:g.67135921_67135927del, NC_000001.11:g.67135922_67135927del, NC_000001.11:g.67135923_67135927del, NC_000001.11:g.67135924_67135927del, NC_000001.11:g.67135925_67135927del, NC_000001.11:g.67135926_67135927del, NC_000001.11:g.67135927del, NC_000001.11:g.67135927dup, NC_000001.11:g.67135926_67135927dup, NC_000001.11:g.67135925_67135927dup, NC_000001.11:g.67135924_67135927dup, NC_000001.11:g.67135923_67135927dup, NC_000001.11:g.67135922_67135927dup, NC_000001.11:g.67135921_67135927dup, NC_000001.11:g.67135920_67135927dup, NC_000001.11:g.67135919_67135927dup, NC_000001.11:g.67135918_67135927dup, NC_000001.11:g.67135917_67135927dup, NC_000001.11:g.67135916_67135927dup, NC_000001.11:g.67135915_67135927dup, NC_000001.11:g.67135914_67135927dup, NC_000001.11:g.67135913_67135927dup, NC_000001.11:g.67135912_67135927dup, NC_000001.11:g.67135911_67135927dup, NC_000001.11:g.67135910_67135927dup, NC_000001.11:g.67135909_67135927dup, NC_000001.11:g.67135908_67135927dup, NC_000001.11:g.67135907_67135927dup, NC_000001.11:g.67135927_67135928insAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.67135927_67135928insAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.67135927_67135928insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.67135927_67135928insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.67135927_67135928insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.67135927_67135928insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.67135927_67135928insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.67135927_67135928insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.67135927_67135928insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.67135927_67135928insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.67135927_67135928insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.67135927_67135928insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.67135927_67135928insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.11:g.67135907_67135927A[45]TAGGAAAAAAGGAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.67135907_67135927A[27]TATGAAAAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.11:g.67135907_67135927A[26]GAAAAAAAGAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.67601602_67601610del, NC_000001.10:g.67601603_67601610del, NC_000001.10:g.67601604_67601610del, NC_000001.10:g.67601605_67601610del, NC_000001.10:g.67601606_67601610del, NC_000001.10:g.67601607_67601610del, NC_000001.10:g.67601608_67601610del, NC_000001.10:g.67601609_67601610del, NC_000001.10:g.67601610del, NC_000001.10:g.67601610dup, NC_000001.10:g.67601609_67601610dup, NC_000001.10:g.67601608_67601610dup, NC_000001.10:g.67601607_67601610dup, NC_000001.10:g.67601606_67601610dup, NC_000001.10:g.67601605_67601610dup, NC_000001.10:g.67601604_67601610dup, NC_000001.10:g.67601603_67601610dup, NC_000001.10:g.67601602_67601610dup, NC_000001.10:g.67601601_67601610dup, NC_000001.10:g.67601600_67601610dup, NC_000001.10:g.67601599_67601610dup, NC_000001.10:g.67601598_67601610dup, NC_000001.10:g.67601597_67601610dup, NC_000001.10:g.67601596_67601610dup, NC_000001.10:g.67601595_67601610dup, NC_000001.10:g.67601594_67601610dup, NC_000001.10:g.67601593_67601610dup, NC_000001.10:g.67601592_67601610dup, NC_000001.10:g.67601591_67601610dup, NC_000001.10:g.67601590_67601610dup, NC_000001.10:g.67601610_67601611insAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.67601610_67601611insAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.67601610_67601611insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.67601610_67601611insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.67601610_67601611insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.67601610_67601611insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.67601610_67601611insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.67601610_67601611insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.67601610_67601611insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.67601610_67601611insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.67601610_67601611insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.67601610_67601611insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.67601610_67601611insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000001.10:g.67601590_67601610A[45]TAGGAAAAAAGGAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.67601590_67601610A[27]TATGAAAAGAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000001.10:g.67601590_67601610A[26]GAAAAAAAGAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 14909868788.

rs1490986878 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:67119615 (GRCh38)
1:67585298 (GRCh37)
Canonical SPDI:: NC_000001.11:67119614:G:A
Gene:: C1orf141 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000001.11:g.67119615G>A, NC_000001.10:g.67585298G>A

Select item 14909735619.

rs1490973561 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:67134829 (GRCh38)
1:67600512 (GRCh37)
Canonical SPDI:: NC_000001.11:67134828:A:C,NC_000001.11:67134828:A:G
Gene:: C1orf141 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.67134829A>C, NC_000001.11:g.67134829A>G, NC_000001.10:g.67600512A>C, NC_000001.10:g.67600512A>G

Select item 149094351910.

rs1490943519 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:67135772 (GRCh38)
1:67601455 (GRCh37)
Canonical SPDI:: NC_000001.11:67135771:A:C
Gene:: C1orf141 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.67135772A>C, NC_000001.10:g.67601455A>C

Select item 149089247511.

rs1490892475 has merged into rs980601086 [Homo sapiens]

Variant type:: DELINS
Alleles:: T>-,TT [Show Flanks]
Chromosome:: 1:67102493 (GRCh38)
1:67568176 (GRCh37)
Canonical SPDI:: NC_000001.11:67102492:TTTTTTTTT:TTTTTTTT,NC_000001.11:67102492:TTTTTTTTT:TTTTTTTTTT
Gene:: C1orf141 (Varview), LOC124900434 (Varview)
Functional Consequence:: intron_variant,500B_downstream_variant,downstream_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000177/5 (TOMMO)
HGVS:: NC_000001.11:g.67102501del, NC_000001.11:g.67102501dup, NC_000001.10:g.67568184del, NC_000001.10:g.67568184dup

Select item 149087940412.

rs1490879404 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 1:67119741 (GRCh38)
1:67585424 (GRCh37)
Canonical SPDI:: NC_000001.11:67119740:T:C,NC_000001.11:67119740:T:G
Gene:: C1orf141 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.67119741T>C, NC_000001.11:g.67119741T>G, NC_000001.10:g.67585424T>C, NC_000001.10:g.67585424T>G

Select item 149075603713.

rs1490756037 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 1:67127916 (GRCh38)
1:67593599 (GRCh37)
Canonical SPDI:: NC_000001.11:67127915:T:G
Gene:: C1orf141 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.67127916T>G, NC_000001.10:g.67593599T>G

Select item 149073356614.

rs1490733566 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:67142832 (GRCh38)
1:67608515 (GRCh37)
Canonical SPDI:: NC_000001.11:67142831:C:T
Gene:: IL23R (Varview), C1orf141 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000001.11:g.67142832C>T, NC_000001.10:g.67608515C>T

Select item 149061975215.

rs1490619752 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 1:67110202 (GRCh38)
1:67575885 (GRCh37)
Canonical SPDI:: NC_000001.11:67110201:A:T
Gene:: C1orf141 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.67110202A>T, NC_000001.10:g.67575885A>T

Select item 149058692716.

rs1490586927 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:67092636 (GRCh38)
1:67558319 (GRCh37)
Canonical SPDI:: NC_000001.11:67092635:A:G
Gene:: C1orf141 (Varview)
Functional Consequence:: non_coding_transcript_variant,3_prime_UTR_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000015/4 (TOPMED)
A=0.5/1 (SGDP_PRJ)
HGVS:: NC_000001.11:g.67092636A>G, NC_000001.10:g.67558319A>G, XM_011541465.3:c.*369T>C, XM_011541465.2:c.*369T>C, XM_011541465.1:c.*369T>C, XM_011541466.3:c.*369T>C, XM_011541466.2:c.*369T>C, XM_011541466.1:c.*369T>C, XM_017001276.2:c.*369T>C, XM_017001276.1:c.*369T>C, NR_075077.2:n.1885T>C, NR_075077.1:n.1886T>C, XM_011541467.2:c.*369T>C, XM_011541467.1:c.*369T>C, NM_001276352.2:c.*944T>C, NM_001276352.1:c.*944T>C, NM_001276351.2:c.*369T>C, NM_001276351.1:c.*369T>C, XM_011541469.2:c.*369T>C, XM_011541469.1:c.*369T>C, NM_001013674.1:c.*369T>C

Select item 149056546717.

rs1490565467 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:67099086 (GRCh38)
1:67564769 (GRCh37)
Canonical SPDI:: NC_000001.11:67099085:A:G
Gene:: C1orf141 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.67099086A>G, NC_000001.10:g.67564769A>G

Select item 149052832718.

rs1490528327 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:67109268 (GRCh38)
1:67574951 (GRCh37)
Canonical SPDI:: NC_000001.11:67109267:A:C,NC_000001.11:67109267:A:G
Gene:: C1orf141 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000001.11:g.67109268A>C, NC_000001.11:g.67109268A>G, NC_000001.10:g.67574951A>C, NC_000001.10:g.67574951A>G

Select item 149052341319.

rs1490523413 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:67096651 (GRCh38)
1:67562334 (GRCh37)
Canonical SPDI:: NC_000001.11:67096650:A:C,NC_000001.11:67096650:A:G
Gene:: C1orf141 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.67096651A>C, NC_000001.11:g.67096651A>G, NC_000001.10:g.67562334A>C, NC_000001.10:g.67562334A>G

Select item 149052102620.

rs1490521026 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:67093898 (GRCh38)
1:67559581 (GRCh37)
Canonical SPDI:: NC_000001.11:67093897:C:A
Gene:: C1orf141 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_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_000001.11:g.67093898C>A, NC_000001.10:g.67559581C>A

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