SNP Links for Gene (Select 11261) - SNP

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Select item 14915026561.

rs1491502656 has merged into rs144891496 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 15:41252940 (GRCh38)
15:41545138 (GRCh37)
Canonical SPDI:: NC_000015.10:41252927:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:41252927:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:41252927:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:41252927:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:41252927:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:41252927:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:41252927:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000015.10:41252927:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:41252927:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:41252927:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:41252927:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:41252927:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:41252927:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:41252927:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:41252927:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:41252927:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:41252927:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:41252927:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:41252927:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:41252927:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:41252927:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:41252927:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:41252927:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:41252927:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:41252927:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:41252927:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:41252927:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:41252927:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:41252927:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CHP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.325/13 (GENOME_DK)
HGVS:: NC_000015.10:g.41252940_41252957del, NC_000015.10:g.41252941_41252957del, NC_000015.10:g.41252942_41252957del, NC_000015.10:g.41252943_41252957del, NC_000015.10:g.41252944_41252957del, NC_000015.10:g.41252945_41252957del, NC_000015.10:g.41252946_41252957del, NC_000015.10:g.41252947_41252957del, NC_000015.10:g.41252948_41252957del, NC_000015.10:g.41252949_41252957del, NC_000015.10:g.41252950_41252957del, NC_000015.10:g.41252951_41252957del, NC_000015.10:g.41252952_41252957del, NC_000015.10:g.41252953_41252957del, NC_000015.10:g.41252954_41252957del, NC_000015.10:g.41252955_41252957del, NC_000015.10:g.41252956_41252957del, NC_000015.10:g.41252957del, NC_000015.10:g.41252957dup, NC_000015.10:g.41252956_41252957dup, NC_000015.10:g.41252955_41252957dup, NC_000015.10:g.41252954_41252957dup, NC_000015.10:g.41252953_41252957dup, NC_000015.10:g.41252952_41252957dup, NC_000015.10:g.41252951_41252957dup, NC_000015.10:g.41252948_41252957dup, NC_000015.10:g.41252928_41252957dup, NC_000015.10:g.41252957_41252958insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.41252957_41252958insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.41545138_41545155del, NC_000015.9:g.41545139_41545155del, NC_000015.9:g.41545140_41545155del, NC_000015.9:g.41545141_41545155del, NC_000015.9:g.41545142_41545155del, NC_000015.9:g.41545143_41545155del, NC_000015.9:g.41545144_41545155del, NC_000015.9:g.41545145_41545155del, NC_000015.9:g.41545146_41545155del, NC_000015.9:g.41545147_41545155del, NC_000015.9:g.41545148_41545155del, NC_000015.9:g.41545149_41545155del, NC_000015.9:g.41545150_41545155del, NC_000015.9:g.41545151_41545155del, NC_000015.9:g.41545152_41545155del, NC_000015.9:g.41545153_41545155del, NC_000015.9:g.41545154_41545155del, NC_000015.9:g.41545155del, NC_000015.9:g.41545155dup, NC_000015.9:g.41545154_41545155dup, NC_000015.9:g.41545153_41545155dup, NC_000015.9:g.41545152_41545155dup, NC_000015.9:g.41545151_41545155dup, NC_000015.9:g.41545150_41545155dup, NC_000015.9:g.41545149_41545155dup, NC_000015.9:g.41545146_41545155dup, NC_000015.9:g.41545126_41545155dup, NC_000015.9:g.41545155_41545156insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.41545155_41545156insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914011082.

rs1491401108 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 15:41261992 (GRCh38)
15:41554190 (GRCh37)
Canonical SPDI:: NC_000015.10:41261991:CA:
Gene:: CHP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000015.10:g.41261992_41261993del, NC_000015.9:g.41554190_41554191del

Select item 14913246973.

rs1491324697 [Homo sapiens]

Variant type:: DEL
Alleles:: GT>- [Show Flanks]
Chromosome:: 15:41252927 (GRCh38)
15:41545125 (GRCh37)
Canonical SPDI:: NC_000015.10:41252926:GT:
Gene:: CHP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.001686/20 (ALFA)
-=0.007508/773 (GnomAD)
HGVS:: NC_000015.10:g.41252927_41252928del, NC_000015.9:g.41545125_41545126del

Select item 14912297334.

rs1491229733 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 15:41229787 (GRCh38)
15:41521985 (GRCh37)
Canonical SPDI:: NC_000015.10:41229785:ACA:A
Gene:: CHP1 (Varview), EXD1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000015.10:g.41229787_41229788del, NC_000015.9:g.41521985_41521986del

Select item 14911743925.

rs1491174392 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CAGCAA [Show Flanks]
Chromosome:: 15:41229786 (GRCh38)
15:41521985 (GRCh37)
Canonical SPDI:: NC_000015.10:41229786:CAA:CAACAGCAA
Gene:: CHP1 (Varview), EXD1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CAACAGCAA=0./0 (ALFA)
HGVS:: NC_000015.10:g.41229789_41229790insCAGCAA, NC_000015.9:g.41521987_41521988insCAGCAA

Select item 14911688966.

rs1491168896 has merged into rs34691506 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA [Show Flanks]
Chromosome:: 15:41262004 (GRCh38)
15:41554202 (GRCh37)
Canonical SPDI:: NC_000015.10:41261992:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:41261992:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:41261992:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:41261992:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:41261992:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:41261992:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:41261992:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA
Gene:: CHP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.22504/1127 (1000Genomes)
HGVS:: NC_000015.10:g.41262004_41262010del, NC_000015.10:g.41262007_41262010del, NC_000015.10:g.41262008_41262010del, NC_000015.10:g.41262009_41262010del, NC_000015.10:g.41262010del, NC_000015.10:g.41262010dup, NC_000015.10:g.41262009_41262010dup, NC_000015.9:g.41554202_41554208del, NC_000015.9:g.41554205_41554208del, NC_000015.9:g.41554206_41554208del, NC_000015.9:g.41554207_41554208del, NC_000015.9:g.41554208del, NC_000015.9:g.41554208dup, NC_000015.9:g.41554207_41554208dup

Select item 14911672227.

rs1491167222 has merged into rs143070752 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 15:41271264 (GRCh38)
15:41563462 (GRCh37)
Canonical SPDI:: NC_000015.10:41271254:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000015.10:41271254:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000015.10:41271254:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000015.10:41271254:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000015.10:41271254:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:41271254:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:41271254:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:41271254:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:41271254:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:41271254:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:41271254:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:41271254:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:41271254:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:41271254:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:41271254:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:41271254:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:41271254:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:41271254:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:41271254:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:41271254:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CHP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.41271264_41271278del, NC_000015.10:g.41271266_41271278del, NC_000015.10:g.41271267_41271278del, NC_000015.10:g.41271268_41271278del, NC_000015.10:g.41271269_41271278del, NC_000015.10:g.41271270_41271278del, NC_000015.10:g.41271271_41271278del, NC_000015.10:g.41271272_41271278del, NC_000015.10:g.41271273_41271278del, NC_000015.10:g.41271274_41271278del, NC_000015.10:g.41271275_41271278del, NC_000015.10:g.41271276_41271278del, NC_000015.10:g.41271277_41271278del, NC_000015.10:g.41271278del, NC_000015.10:g.41271278dup, NC_000015.10:g.41271277_41271278dup, NC_000015.10:g.41271276_41271278dup, NC_000015.10:g.41271275_41271278dup, NC_000015.10:g.41271274_41271278dup, NC_000015.10:g.41271273_41271278dup, NC_000015.9:g.41563462_41563476del, NC_000015.9:g.41563464_41563476del, NC_000015.9:g.41563465_41563476del, NC_000015.9:g.41563466_41563476del, NC_000015.9:g.41563467_41563476del, NC_000015.9:g.41563468_41563476del, NC_000015.9:g.41563469_41563476del, NC_000015.9:g.41563470_41563476del, NC_000015.9:g.41563471_41563476del, NC_000015.9:g.41563472_41563476del, NC_000015.9:g.41563473_41563476del, NC_000015.9:g.41563474_41563476del, NC_000015.9:g.41563475_41563476del, NC_000015.9:g.41563476del, NC_000015.9:g.41563476dup, NC_000015.9:g.41563475_41563476dup, NC_000015.9:g.41563474_41563476dup, NC_000015.9:g.41563473_41563476dup, NC_000015.9:g.41563472_41563476dup, NC_000015.9:g.41563471_41563476dup

Select item 14911394438.

rs1491139443 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 15:41271254 (GRCh38)
15:41563452 (GRCh37)
Canonical SPDI:: NC_000015.10:41271253:CA:
Gene:: CHP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00025/3 (ALFA)
HGVS:: NC_000015.10:g.41271254_41271255del, NC_000015.9:g.41563452_41563453del

Select item 14910834469.

rs1491083446 has merged into rs57565577 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 15:41267940 (GRCh38)
15:41560138 (GRCh37)
Canonical SPDI:: NC_000015.10:41267929:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000015.10:41267929:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:41267929:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:41267929:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000015.10:41267929:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:41267929:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:41267929:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:41267929:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:41267929:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:41267929:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:41267929:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000015.10:41267929:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CHP1 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.19529/978 (1000Genomes)
HGVS:: NC_000015.10:g.41267940_41267947del, NC_000015.10:g.41267945_41267947del, NC_000015.10:g.41267946_41267947del, NC_000015.10:g.41267947del, NC_000015.10:g.41267947dup, NC_000015.10:g.41267946_41267947dup, NC_000015.10:g.41267945_41267947dup, NC_000015.10:g.41267944_41267947dup, NC_000015.10:g.41267943_41267947dup, NC_000015.10:g.41267942_41267947dup, NC_000015.10:g.41267938_41267947dup, NC_000015.10:g.41267935_41267947dup, NC_000015.9:g.41560138_41560145del, NC_000015.9:g.41560143_41560145del, NC_000015.9:g.41560144_41560145del, NC_000015.9:g.41560145del, NC_000015.9:g.41560145dup, NC_000015.9:g.41560144_41560145dup, NC_000015.9:g.41560143_41560145dup, NC_000015.9:g.41560142_41560145dup, NC_000015.9:g.41560141_41560145dup, NC_000015.9:g.41560140_41560145dup, NC_000015.9:g.41560136_41560145dup, NC_000015.9:g.41560133_41560145dup, XM_017021879.3:c.*3753_*3760del, XM_017021879.3:c.*3758_*3760del, XM_017021879.3:c.*3759_*3760del, XM_017021879.3:c.*3760del, XM_017021879.3:c.*3760dup, XM_017021879.3:c.*3759_*3760dup, XM_017021879.3:c.*3758_*3760dup, XM_017021879.3:c.*3757_*3760dup, XM_017021879.3:c.*3756_*3760dup, XM_017021879.3:c.*3755_*3760dup, XM_017021879.3:c.*3751_*3760dup, XM_017021879.3:c.*3748_*3760dup

Select item 149107516810.

rs1491075168 has merged into rs535457262 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTT>-,T,TTT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 15:41259539 (GRCh38)
15:41551737 (GRCh37)
Canonical SPDI:: NC_000015.10:41259525:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:41259525:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:41259525:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:41259525:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:41259525:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:41259525:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:41259525:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:41259525:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:41259525:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:41259525:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:41259525:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:41259525:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:41259525:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:41259525:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CHP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.126/631 (1000Genomes)
TT=0.23894/886 (TWINSUK)
TT=0.2657/1024 (ALSPAC)
-=0.325/13 (GENOME_DK)
HGVS:: NC_000015.10:g.41259539_41259543del, NC_000015.10:g.41259540_41259543del, NC_000015.10:g.41259542_41259543del, NC_000015.10:g.41259543del, NC_000015.10:g.41259543dup, NC_000015.10:g.41259542_41259543dup, NC_000015.10:g.41259541_41259543dup, NC_000015.10:g.41259540_41259543dup, NC_000015.10:g.41259539_41259543dup, NC_000015.10:g.41259538_41259543dup, NC_000015.10:g.41259534_41259543dup, NC_000015.10:g.41259529_41259543dup, NC_000015.10:g.41259527_41259543dup, NC_000015.10:g.41259526_41259543dup, NC_000015.9:g.41551737_41551741del, NC_000015.9:g.41551738_41551741del, NC_000015.9:g.41551740_41551741del, NC_000015.9:g.41551741del, NC_000015.9:g.41551741dup, NC_000015.9:g.41551740_41551741dup, NC_000015.9:g.41551739_41551741dup, NC_000015.9:g.41551738_41551741dup, NC_000015.9:g.41551737_41551741dup, NC_000015.9:g.41551736_41551741dup, NC_000015.9:g.41551732_41551741dup, NC_000015.9:g.41551727_41551741dup, NC_000015.9:g.41551725_41551741dup, NC_000015.9:g.41551724_41551741dup

Select item 149101070311.

rs1491010703 has merged into rs34053067 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 15:41274802 (GRCh38)
15:41567000 (GRCh37)
Canonical SPDI:: NC_000015.10:41274790:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000015.10:41274790:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000015.10:41274790:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000015.10:41274790:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000015.10:41274790:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000015.10:41274790:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000015.10:41274790:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000015.10:41274790:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000015.10:41274790:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000015.10:41274790:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000015.10:41274790:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:41274790:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:41274790:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:41274790:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:41274790:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:41274790:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:41274790:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:41274790:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000015.10:41274790:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CHP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000015.10:g.41274802_41274808del, NC_000015.10:g.41274803_41274808del, NC_000015.10:g.41274804_41274808del, NC_000015.10:g.41274805_41274808del, NC_000015.10:g.41274806_41274808del, NC_000015.10:g.41274807_41274808del, NC_000015.10:g.41274808del, NC_000015.10:g.41274808dup, NC_000015.10:g.41274807_41274808dup, NC_000015.10:g.41274806_41274808dup, NC_000015.10:g.41274805_41274808dup, NC_000015.10:g.41274804_41274808dup, NC_000015.10:g.41274803_41274808dup, NC_000015.10:g.41274802_41274808dup, NC_000015.10:g.41274801_41274808dup, NC_000015.10:g.41274797_41274808dup, NC_000015.10:g.41274791_41274808dup, NC_000015.10:g.41274808_41274809insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.10:g.41274808_41274809insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.41567000_41567006del, NC_000015.9:g.41567001_41567006del, NC_000015.9:g.41567002_41567006del, NC_000015.9:g.41567003_41567006del, NC_000015.9:g.41567004_41567006del, NC_000015.9:g.41567005_41567006del, NC_000015.9:g.41567006del, NC_000015.9:g.41567006dup, NC_000015.9:g.41567005_41567006dup, NC_000015.9:g.41567004_41567006dup, NC_000015.9:g.41567003_41567006dup, NC_000015.9:g.41567002_41567006dup, NC_000015.9:g.41567001_41567006dup, NC_000015.9:g.41567000_41567006dup, NC_000015.9:g.41566999_41567006dup, NC_000015.9:g.41566995_41567006dup, NC_000015.9:g.41566989_41567006dup, NC_000015.9:g.41567006_41567007insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000015.9:g.41567006_41567007insTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149087997612.

rs1490879976 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:41238982 (GRCh38)
15:41531180 (GRCh37)
Canonical SPDI:: NC_000015.10:41238981:G:A
Gene:: CHP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.0002/1 (ALFA)
A=0.0002/1 (Estonian)
HGVS:: NC_000015.10:g.41238982G>A, NC_000015.9:g.41531180G>A

Select item 149085194313.

rs1490851943 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:41258245 (GRCh38)
15:41550443 (GRCh37)
Canonical SPDI:: NC_000015.10:41258244:C:T
Gene:: CHP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.41258245C>T, NC_000015.9:g.41550443C>T

Select item 149078224414.

rs1490782244 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:41229717 (GRCh38)
15:41521915 (GRCh37)
Canonical SPDI:: NC_000015.10:41229716:G:A
Gene:: CHP1 (Varview), EXD1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant,intron_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_000015.10:g.41229717G>A, NC_000015.9:g.41521915G>A

Select item 149073899015.

rs1490738990 has merged into rs35765288 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 15:41244211 (GRCh38)
15:41536409 (GRCh37)
Canonical SPDI:: NC_000015.10:41244196:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000015.10:41244196:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000015.10:41244196:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000015.10:41244196:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000015.10:41244196:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000015.10:41244196:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000015.10:41244196:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000015.10:41244196:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CHP1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.2817/1411 (1000Genomes)
HGVS:: NC_000015.10:g.41244211_41244213del, NC_000015.10:g.41244212_41244213del, NC_000015.10:g.41244213del, NC_000015.10:g.41244213dup, NC_000015.10:g.41244212_41244213dup, NC_000015.10:g.41244211_41244213dup, NC_000015.10:g.41244210_41244213dup, NC_000015.10:g.41244207_41244213dup, NC_000015.9:g.41536409_41536411del, NC_000015.9:g.41536410_41536411del, NC_000015.9:g.41536411del, NC_000015.9:g.41536411dup, NC_000015.9:g.41536410_41536411dup, NC_000015.9:g.41536409_41536411dup, NC_000015.9:g.41536408_41536411dup, NC_000015.9:g.41536405_41536411dup

Select item 149068839416.

rs1490688394 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 15:41245242 (GRCh38)
15:41537440 (GRCh37)
Canonical SPDI:: NC_000015.10:41245241:C:T
Gene:: CHP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.41245242C>T, NC_000015.9:g.41537440C>T

Select item 149064266317.

rs1490642663 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 15:41271355 (GRCh38)
15:41563553 (GRCh37)
Canonical SPDI:: NC_000015.10:41271354:G:A,NC_000015.10:41271354:G:T
Gene:: CHP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
A=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.41271355G>A, NC_000015.10:g.41271355G>T, NC_000015.9:g.41563553G>A, NC_000015.9:g.41563553G>T

Select item 149057612818.

rs1490576128 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 15:41243824 (GRCh38)
15:41536022 (GRCh37)
Canonical SPDI:: NC_000015.10:41243823:G:A
Gene:: CHP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000015.10:g.41243824G>A, NC_000015.9:g.41536022G>A

Select item 149052871719.

rs1490528717 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 15:41280959 (GRCh38)
15:41573157 (GRCh37)
Canonical SPDI:: NC_000015.10:41280958:A:G
Gene:: CHP1 (Varview), OIP5-AS1 (Varview)
Functional Consequence:: 2KB_upstream_variant,3_prime_UTR_variant,genic_downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000015.10:g.41280959A>G, NC_000015.9:g.41573157A>G, NM_007236.5:c.*1570A>G, NM_007236.4:c.*1570A>G, XM_047432125.1:c.*1570A>G, XM_047432124.1:c.*1570A>G

Select item 149052587720.

rs1490525877 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 15:41244769 (GRCh38)
15:41536967 (GRCh37)
Canonical SPDI:: NC_000015.10:41244768:T:G
Gene:: CHP1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000015.10:g.41244769T>G, NC_000015.9:g.41536967T>G

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