SNP Links for Gene (Select 10428) - SNP

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Select item 14915648531.

rs1491564853 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT [Show Flanks]
Chromosome:: 16:75394659 (GRCh38)
16:75428558 (GRCh37)
Canonical SPDI:: NC_000016.10:75394659:TT:TTCTT
Gene:: CFDP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTCTT=0.00008/1 (ALFA)
TTC=0.00083/14 (GnomAD)
HGVS:: NC_000016.10:g.75394661_75394662insCTT, NC_000016.9:g.75428559_75428560insCTT

Select item 14915488112.

rs1491548811 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 16:75424771 (GRCh38)
16:75458670 (GRCh37)
Canonical SPDI:: NC_000016.10:75424771::G
Gene:: CFDP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000038/5 (GnomAD)
HGVS:: NC_000016.10:g.75424771_75424772insG, NC_000016.9:g.75458669_75458670insG

Select item 14915379533.

rs1491537953 has merged into rs3043650 [Homo sapiens]

Variant type:: DELINS
Alleles:: CTCTCTCT>-,CT,CTCT,CTCTCT,CTCTCTCTCT,CTCTCTCTCTCT,CTCTCTCTCTCTCT [Show Flanks]
Chromosome:: 16:75304070 (GRCh38)
16:75337968 (GRCh37)
Canonical SPDI:: NC_000016.10:75304060:TCTCTCTCTCTCTCTCT:TCTCTCTCT,NC_000016.10:75304060:TCTCTCTCTCTCTCTCT:TCTCTCTCTCT,NC_000016.10:75304060:TCTCTCTCTCTCTCTCT:TCTCTCTCTCTCT,NC_000016.10:75304060:TCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCT,NC_000016.10:75304060:TCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCT,NC_000016.10:75304060:TCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCT,NC_000016.10:75304060:TCTCTCTCTCTCTCTCT:TCTCTCTCTCTCTCTCTCTCTCT
Gene:: CFDP1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TCTCTCTCTCT=0./0 (ALFA)
TC=0.175/7 (GENOME_DK)
TC=0.24483/1090 (1000Genomes)
TC=0.38916/6522 (TOMMO)
HGVS:: NC_000016.10:g.75304062CT[4], NC_000016.10:g.75304062CT[5], NC_000016.10:g.75304062CT[6], NC_000016.10:g.75304062CT[7], NC_000016.10:g.75304062CT[9], NC_000016.10:g.75304062CT[10], NC_000016.10:g.75304062CT[11], NC_000016.9:g.75337960CT[4], NC_000016.9:g.75337960CT[5], NC_000016.9:g.75337960CT[6], NC_000016.9:g.75337960CT[7], NC_000016.9:g.75337960CT[9], NC_000016.9:g.75337960CT[10], NC_000016.9:g.75337960CT[11]

Select item 14915363614.

rs1491536361 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:75315331 (GRCh38)
16:75349229 (GRCh37)
Canonical SPDI:: NC_000016.10:75315330:CA:
Gene:: CFDP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000016.10:g.75315331_75315332del, NC_000016.9:g.75349229_75349230del

Select item 14915176785.

rs1491517678 has merged into rs9331624 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:75413564 (GRCh38)
16:75447462 (GRCh37)
Canonical SPDI:: NC_000016.10:75413552:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:75413552:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:75413552:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:75413552:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:75413552:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:75413552:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:75413552:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:75413552:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:75413552:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:75413552:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:75413552:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:75413552:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:75413552:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:75413552:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:75413552:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:75413552:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CFDP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
AA=0.1693/848 (1000Genomes)
-=0.45/18 (GENOME_DK)
HGVS:: NC_000016.10:g.75413564_75413576del, NC_000016.10:g.75413567_75413576del, NC_000016.10:g.75413568_75413576del, NC_000016.10:g.75413569_75413576del, NC_000016.10:g.75413570_75413576del, NC_000016.10:g.75413571_75413576del, NC_000016.10:g.75413572_75413576del, NC_000016.10:g.75413573_75413576del, NC_000016.10:g.75413574_75413576del, NC_000016.10:g.75413575_75413576del, NC_000016.10:g.75413576del, NC_000016.10:g.75413576dup, NC_000016.10:g.75413575_75413576dup, NC_000016.10:g.75413574_75413576dup, NC_000016.10:g.75413573_75413576dup, NC_000016.10:g.75413576_75413577insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000016.9:g.75447462_75447474del, NC_000016.9:g.75447465_75447474del, NC_000016.9:g.75447466_75447474del, NC_000016.9:g.75447467_75447474del, NC_000016.9:g.75447468_75447474del, NC_000016.9:g.75447469_75447474del, NC_000016.9:g.75447470_75447474del, NC_000016.9:g.75447471_75447474del, NC_000016.9:g.75447472_75447474del, NC_000016.9:g.75447473_75447474del, NC_000016.9:g.75447474del, NC_000016.9:g.75447474dup, NC_000016.9:g.75447473_75447474dup, NC_000016.9:g.75447472_75447474dup, NC_000016.9:g.75447471_75447474dup, NC_000016.9:g.75447474_75447475insAAAAAAAAAAAAAAAAAAAAAAAAA

Select item 14915101546.

rs1491510154 [Homo sapiens]

Variant type:: INS
Alleles:: ->TGT [Show Flanks]
Chromosome:: 16:75303395 (GRCh38)
16:75337294 (GRCh37)
Canonical SPDI:: NC_000016.10:75303395::TGT
Gene:: CFDP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGT=0.0009/4 (ALFA)
TGT=0.00004/1 (TOMMO)
TGT=0.00086/50 (GnomAD)
HGVS:: NC_000016.10:g.75303395_75303396insTGT, NC_000016.9:g.75337293_75337294insTGT

Select item 14915033807.

rs1491503380 [Homo sapiens]

Variant type:: INS
Alleles:: ->G,GCGTGTGTGTGTGTGTGTGTG,GGGTGTGTGTGTGTGTG,GTG,GTGTG,GTGTGTATGTG,GTGTGTG,GTGTGTGTG,GTGTGTGTGGGTG,GTGTGTGTGTA,GTGTGTGTGTG,GTGTGTGTGTGTG,GTGTGTGTGTGTGTG,GTGTGTGTGTGTGTGTG,GTGTGTGTGTGTGTGTGTG,GTGTGTGTGTGTGTGTGTGTG,GTGTGTGTGTGTGTGTGTGTGTG,GTGTGTGTGTGTGTGTGTGTGTGTG,GTGTGTGTGTGTGTGTGTGTGTGTGTG,GTGTGTGTGTGTGTGTGTGTGTGTGTGTG,GTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 16:75297146 (GRCh38)
16:75331045 (GRCh37)
Canonical SPDI:: NC_000016.10:75297146::G,NC_000016.10:75297146::GCGTGTGTGTGTGTGTGTGTG,NC_000016.10:75297146::GGGTGTGTGTGTGTGTG,NC_000016.10:75297146::GTG,NC_000016.10:75297146::GTGTG,NC_000016.10:75297146::GTGTGTATGTG,NC_000016.10:75297146::GTGTGTG,NC_000016.10:75297146::GTGTGTGTG,NC_000016.10:75297146::GTGTGTGTGGGTG,NC_000016.10:75297146::GTGTGTGTGTA,NC_000016.10:75297146::GTGTGTGTGTG,NC_000016.10:75297146::GTGTGTGTGTGTG,NC_000016.10:75297146::GTGTGTGTGTGTGTG,NC_000016.10:75297146::GTGTGTGTGTGTGTGTG,NC_000016.10:75297146::GTGTGTGTGTGTGTGTGTG,NC_000016.10:75297146::GTGTGTGTGTGTGTGTGTGTG,NC_000016.10:75297146::GTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:75297146::GTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:75297146::GTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:75297146::GTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000016.10:75297146::GTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTG
Gene:: CFDP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by cluster
HGVS:: NC_000016.10:g.75297146_75297147insG, NC_000016.10:g.75297146_75297147insGCGTGTGTGTGTGTGTGTGTG, NC_000016.10:g.75297146_75297147insGGGTGTGTGTGTGTGTG, NC_000016.10:g.75297146_75297147insGTG, NC_000016.10:g.75297146_75297147insGTGTG, NC_000016.10:g.75297146_75297147insGTGTGTATGTG, NC_000016.10:g.75297146_75297147insGTGTGTG, NC_000016.10:g.75297146_75297147insGTGTGTGTG, NC_000016.10:g.75297146_75297147insGTGTGTGTGGGTG, NC_000016.10:g.75297146_75297147insGTGTGTGTGTA, NC_000016.10:g.75297146_75297147insGTGTGTGTGTG, NC_000016.10:g.75297146_75297147insGTGTGTGTGTGTG, NC_000016.10:g.75297146_75297147insGTGTGTGTGTGTGTG, NC_000016.10:g.75297146_75297147insGTGTGTGTGTGTGTGTG, NC_000016.10:g.75297146_75297147insGTGTGTGTGTGTGTGTGTG, NC_000016.10:g.75297146_75297147insGTGTGTGTGTGTGTGTGTGTG, NC_000016.10:g.75297146_75297147insGTGTGTGTGTGTGTGTGTGTGTG, NC_000016.10:g.75297146_75297147insGTGTGTGTGTGTGTGTGTGTGTGTG, NC_000016.10:g.75297146_75297147insGTGTGTGTGTGTGTGTGTGTGTGTGTG, NC_000016.10:g.75297146_75297147insGTGTGTGTGTGTGTGTGTGTGTGTGTGTG, NC_000016.10:g.75297146_75297147insGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTG, NC_000016.9:g.75331044_75331045insG, NC_000016.9:g.75331044_75331045insGCGTGTGTGTGTGTGTGTGTG, NC_000016.9:g.75331044_75331045insGGGTGTGTGTGTGTGTG, NC_000016.9:g.75331044_75331045insGTG, NC_000016.9:g.75331044_75331045insGTGTG, NC_000016.9:g.75331044_75331045insGTGTGTATGTG, NC_000016.9:g.75331044_75331045insGTGTGTG, NC_000016.9:g.75331044_75331045insGTGTGTGTG, NC_000016.9:g.75331044_75331045insGTGTGTGTGGGTG, NC_000016.9:g.75331044_75331045insGTGTGTGTGTA, NC_000016.9:g.75331044_75331045insGTGTGTGTGTG, NC_000016.9:g.75331044_75331045insGTGTGTGTGTGTG, NC_000016.9:g.75331044_75331045insGTGTGTGTGTGTGTG, NC_000016.9:g.75331044_75331045insGTGTGTGTGTGTGTGTG, NC_000016.9:g.75331044_75331045insGTGTGTGTGTGTGTGTGTG, NC_000016.9:g.75331044_75331045insGTGTGTGTGTGTGTGTGTGTG, NC_000016.9:g.75331044_75331045insGTGTGTGTGTGTGTGTGTGTGTG, NC_000016.9:g.75331044_75331045insGTGTGTGTGTGTGTGTGTGTGTGTG, NC_000016.9:g.75331044_75331045insGTGTGTGTGTGTGTGTGTGTGTGTGTG, NC_000016.9:g.75331044_75331045insGTGTGTGTGTGTGTGTGTGTGTGTGTGTG, NC_000016.9:g.75331044_75331045insGTGTGTGTGTGTGTGTGTGTGTTTGTGTGTGTGTGTGTG

Select item 14914965258.

rs1491496525 [Homo sapiens]

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

Select item 14914878289.

rs1491487828 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 16:75303396 (GRCh38)
16:75337294 (GRCh37)
Canonical SPDI:: NC_000016.10:75303394:AAA:A
Gene:: CFDP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency
MAF:: -=0.00021/26 (GnomAD)
HGVS:: NC_000016.10:g.75303396_75303397del, NC_000016.9:g.75337294_75337295del

Select item 149147232810.

rs1491472328 has merged into rs3975152 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:75353760 (GRCh38)
16:75387658 (GRCh37)
Canonical SPDI:: NC_000016.10:75353748:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:75353748:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:75353748:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:75353748:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:75353748:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:75353748:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:75353748:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:75353748:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:75353748:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:75353748:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:75353748:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:75353748:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:75353748:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:75353748:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:75353748:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:75353748:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:75353748:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:75353748:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:75353748:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:75353748:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:75353748:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CFDP1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAA=0./0 (GENOME_DK)
HGVS:: NC_000016.10:g.75353760_75353776del, NC_000016.10:g.75353761_75353776del, NC_000016.10:g.75353762_75353776del, NC_000016.10:g.75353763_75353776del, NC_000016.10:g.75353764_75353776del, NC_000016.10:g.75353765_75353776del, NC_000016.10:g.75353766_75353776del, NC_000016.10:g.75353767_75353776del, NC_000016.10:g.75353768_75353776del, NC_000016.10:g.75353769_75353776del, NC_000016.10:g.75353770_75353776del, NC_000016.10:g.75353771_75353776del, NC_000016.10:g.75353772_75353776del, NC_000016.10:g.75353773_75353776del, NC_000016.10:g.75353774_75353776del, NC_000016.10:g.75353775_75353776del, NC_000016.10:g.75353776del, NC_000016.10:g.75353776dup, NC_000016.10:g.75353775_75353776dup, NC_000016.10:g.75353774_75353776dup, NC_000016.10:g.75353768_75353776dup, NC_000016.9:g.75387658_75387674del, NC_000016.9:g.75387659_75387674del, NC_000016.9:g.75387660_75387674del, NC_000016.9:g.75387661_75387674del, NC_000016.9:g.75387662_75387674del, NC_000016.9:g.75387663_75387674del, NC_000016.9:g.75387664_75387674del, NC_000016.9:g.75387665_75387674del, NC_000016.9:g.75387666_75387674del, NC_000016.9:g.75387667_75387674del, NC_000016.9:g.75387668_75387674del, NC_000016.9:g.75387669_75387674del, NC_000016.9:g.75387670_75387674del, NC_000016.9:g.75387671_75387674del, NC_000016.9:g.75387672_75387674del, NC_000016.9:g.75387673_75387674del, NC_000016.9:g.75387674del, NC_000016.9:g.75387674dup, NC_000016.9:g.75387673_75387674dup, NC_000016.9:g.75387672_75387674dup, NC_000016.9:g.75387666_75387674dup

Select item 149147052211.

rs1491470522 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:75413552 (GRCh38)
16:75447450 (GRCh37)
Canonical SPDI:: NC_000016.10:75413551:CA:
Gene:: CFDP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.05185/615 (ALFA)
-=0.00718/13 (Korea1K)
-=0.01534/253 (TOMMO)
HGVS:: NC_000016.10:g.75413552_75413553del, NC_000016.9:g.75447450_75447451del

Select item 149146759612.

rs1491467596 has merged into rs71134711 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:75426047 (GRCh38)
16:75459945 (GRCh37)
Canonical SPDI:: NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:75426035:AAAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CFDP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
AAAAAAAAAAAAAAA=0./0 (GENOME_DK)
HGVS:: NC_000016.10:g.75426047_75426063del, NC_000016.10:g.75426048_75426063del, NC_000016.10:g.75426049_75426063del, NC_000016.10:g.75426050_75426063del, NC_000016.10:g.75426051_75426063del, NC_000016.10:g.75426052_75426063del, NC_000016.10:g.75426053_75426063del, NC_000016.10:g.75426054_75426063del, NC_000016.10:g.75426055_75426063del, NC_000016.10:g.75426056_75426063del, NC_000016.10:g.75426057_75426063del, NC_000016.10:g.75426059_75426063del, NC_000016.10:g.75426060_75426063del, NC_000016.10:g.75426061_75426063del, NC_000016.10:g.75426062_75426063del, NC_000016.10:g.75426063del, NC_000016.10:g.75426063dup, NC_000016.10:g.75426062_75426063dup, NC_000016.10:g.75426061_75426063dup, NC_000016.10:g.75426058_75426063dup, NC_000016.9:g.75459945_75459961del, NC_000016.9:g.75459946_75459961del, NC_000016.9:g.75459947_75459961del, NC_000016.9:g.75459948_75459961del, NC_000016.9:g.75459949_75459961del, NC_000016.9:g.75459950_75459961del, NC_000016.9:g.75459951_75459961del, NC_000016.9:g.75459952_75459961del, NC_000016.9:g.75459953_75459961del, NC_000016.9:g.75459954_75459961del, NC_000016.9:g.75459955_75459961del, NC_000016.9:g.75459957_75459961del, NC_000016.9:g.75459958_75459961del, NC_000016.9:g.75459959_75459961del, NC_000016.9:g.75459960_75459961del, NC_000016.9:g.75459961del, NC_000016.9:g.75459961dup, NC_000016.9:g.75459960_75459961dup, NC_000016.9:g.75459959_75459961dup, NC_000016.9:g.75459956_75459961dup

Select item 149145874413.

rs1491458744 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:75335553 (GRCh38)
16:75369451 (GRCh37)
Canonical SPDI:: NC_000016.10:75335552:CA:
Gene:: CFDP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000016.10:g.75335553_75335554del, NC_000016.9:g.75369451_75369452del

Select item 149145857714.

rs1491458577 [Homo sapiens]

Variant type:: INS
Alleles:: ->AA [Show Flanks]
Chromosome:: 16:75303402 (GRCh38)
16:75337301 (GRCh37)
Canonical SPDI:: NC_000016.10:75303402::AA
Gene:: CFDP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by cluster
MAF:: AA=0.013771/1896 (GnomAD)
HGVS:: NC_000016.10:g.75303402_75303403insAA, NC_000016.9:g.75337300_75337301insAA

Select item 149145450115.

rs1491454501 has merged into rs34137868 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:75423292 (GRCh38)
16:75457190 (GRCh37)
Canonical SPDI:: NC_000016.10:75423280:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:75423280:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:75423280:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:75423280:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:75423280:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:75423280:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:75423280:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:75423280:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:75423280:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:75423280:AAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: CFDP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.2475/954 (ALSPAC)
A=0.4349/2178 (1000Genomes)
HGVS:: NC_000016.10:g.75423292_75423299del, NC_000016.10:g.75423296_75423299del, NC_000016.10:g.75423297_75423299del, NC_000016.10:g.75423298_75423299del, NC_000016.10:g.75423299del, NC_000016.10:g.75423299dup, NC_000016.10:g.75423298_75423299dup, NC_000016.10:g.75423297_75423299dup, NC_000016.10:g.75423296_75423299dup, NC_000016.10:g.75423293_75423299dup, NC_000016.9:g.75457190_75457197del, NC_000016.9:g.75457194_75457197del, NC_000016.9:g.75457195_75457197del, NC_000016.9:g.75457196_75457197del, NC_000016.9:g.75457197del, NC_000016.9:g.75457197dup, NC_000016.9:g.75457196_75457197dup, NC_000016.9:g.75457195_75457197dup, NC_000016.9:g.75457194_75457197dup, NC_000016.9:g.75457191_75457197dup

Select item 149144952316.

rs1491449523 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:75418252 (GRCh38)
16:75452150 (GRCh37)
Canonical SPDI:: NC_000016.10:75418251:CA:
Gene:: CFDP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000016.10:g.75418252_75418253del, NC_000016.9:g.75452150_75452151del

Select item 149143740717.

rs1491437407 has merged into rs1162951313 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:75394668 (GRCh38)
16:75428566 (GRCh37)
Canonical SPDI:: NC_000016.10:75394658:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000016.10:75394658:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:75394658:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:75394658:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:75394658:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:75394658:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:75394658:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:75394658:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:75394658:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:75394658:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:75394658:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75394658:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75394658:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75394658:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75394658:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75394658:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75394658:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75394658:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75394658:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75394658:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75394658:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75394658:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75394658:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75394658:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:75394658:TTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CFDP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000016.10:g.75394668_75394681del, NC_000016.10:g.75394671_75394681del, NC_000016.10:g.75394672_75394681del, NC_000016.10:g.75394673_75394681del, NC_000016.10:g.75394674_75394681del, NC_000016.10:g.75394675_75394681del, NC_000016.10:g.75394676_75394681del, NC_000016.10:g.75394677_75394681del, NC_000016.10:g.75394678_75394681del, NC_000016.10:g.75394679_75394681del, NC_000016.10:g.75394680_75394681del, NC_000016.10:g.75394681del, NC_000016.10:g.75394681dup, NC_000016.10:g.75394680_75394681dup, NC_000016.10:g.75394679_75394681dup, NC_000016.10:g.75394678_75394681dup, NC_000016.10:g.75394677_75394681dup, NC_000016.10:g.75394676_75394681dup, NC_000016.10:g.75394675_75394681dup, NC_000016.10:g.75394674_75394681dup, NC_000016.10:g.75394673_75394681dup, NC_000016.10:g.75394672_75394681dup, NC_000016.10:g.75394671_75394681dup, NC_000016.10:g.75394670_75394681dup, NC_000016.10:g.75394665_75394681dup, NC_000016.9:g.75428566_75428579del, NC_000016.9:g.75428569_75428579del, NC_000016.9:g.75428570_75428579del, NC_000016.9:g.75428571_75428579del, NC_000016.9:g.75428572_75428579del, NC_000016.9:g.75428573_75428579del, NC_000016.9:g.75428574_75428579del, NC_000016.9:g.75428575_75428579del, NC_000016.9:g.75428576_75428579del, NC_000016.9:g.75428577_75428579del, NC_000016.9:g.75428578_75428579del, NC_000016.9:g.75428579del, NC_000016.9:g.75428579dup, NC_000016.9:g.75428578_75428579dup, NC_000016.9:g.75428577_75428579dup, NC_000016.9:g.75428576_75428579dup, NC_000016.9:g.75428575_75428579dup, NC_000016.9:g.75428574_75428579dup, NC_000016.9:g.75428573_75428579dup, NC_000016.9:g.75428572_75428579dup, NC_000016.9:g.75428571_75428579dup, NC_000016.9:g.75428570_75428579dup, NC_000016.9:g.75428569_75428579dup, NC_000016.9:g.75428568_75428579dup, NC_000016.9:g.75428563_75428579dup

Select item 149142464918.

rs1491424649 [Homo sapiens]

Variant type:: DEL
Alleles:: TA>- [Show Flanks]
Chromosome:: 16:75416464 (GRCh38)
16:75450362 (GRCh37)
Canonical SPDI:: NC_000016.10:75416463:TA:
Gene:: CFDP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00017/2 (ALFA)
-=0.00014/14 (GnomAD)
HGVS:: NC_000016.10:g.75416464_75416465del, NC_000016.9:g.75450362_75450363del

Select item 149142319919.

rs1491423199 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:75360278 (GRCh38)
16:75394176 (GRCh37)
Canonical SPDI:: NC_000016.10:75360276:ACA:A
Gene:: CFDP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant,non_coding_transcript_variant
Validated:: by cluster
HGVS:: NC_000016.10:g.75360278_75360279del, NC_000016.9:g.75394176_75394177del, XR_007064847.1:n.3803_3804del

Select item 149141782420.

rs1491417824 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 16:75323167 (GRCh38)
16:75357065 (GRCh37)
Canonical SPDI:: NC_000016.10:75323166:CT:
Gene:: CFDP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.75323167_75323168del, NC_000016.9:g.75357065_75357066del

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