SNP Links for Gene (Select 83449) - SNP

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Select item 14915611921.

rs1491561192 has merged into rs869071984 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:72135372 (GRCh38)
16:72169271 (GRCh37)
Canonical SPDI:: NC_000016.10:72135359:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:72135359:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:72135359:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:72135359:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:72135359:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:72135359:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:72135359:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:72135359:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:72135359:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72135359:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72135359:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72135359:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72135359:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72135359:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72135359:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72135359:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PMFBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000016.10:g.72135372_72135378del, NC_000016.10:g.72135373_72135378del, NC_000016.10:g.72135374_72135378del, NC_000016.10:g.72135375_72135378del, NC_000016.10:g.72135376_72135378del, NC_000016.10:g.72135377_72135378del, NC_000016.10:g.72135378del, NC_000016.10:g.72135378dup, NC_000016.10:g.72135377_72135378dup, NC_000016.10:g.72135376_72135378dup, NC_000016.10:g.72135375_72135378dup, NC_000016.10:g.72135374_72135378dup, NC_000016.10:g.72135373_72135378dup, NC_000016.10:g.72135372_72135378dup, NC_000016.10:g.72135371_72135378dup, NC_000016.10:g.72135363_72135378dup, NC_000016.9:g.72169271_72169277del, NC_000016.9:g.72169272_72169277del, NC_000016.9:g.72169273_72169277del, NC_000016.9:g.72169274_72169277del, NC_000016.9:g.72169275_72169277del, NC_000016.9:g.72169276_72169277del, NC_000016.9:g.72169277del, NC_000016.9:g.72169277dup, NC_000016.9:g.72169276_72169277dup, NC_000016.9:g.72169275_72169277dup, NC_000016.9:g.72169274_72169277dup, NC_000016.9:g.72169273_72169277dup, NC_000016.9:g.72169272_72169277dup, NC_000016.9:g.72169271_72169277dup, NC_000016.9:g.72169270_72169277dup, NC_000016.9:g.72169262_72169277dup

Select item 14913916402.

rs1491391640 has merged into rs34108768 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAA>-,A,AA,AAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:72152856 (GRCh38)
16:72186755 (GRCh37)
Canonical SPDI:: NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:72152844:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PMFBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000016.10:g.72152856_72152868del, NC_000016.10:g.72152857_72152868del, NC_000016.10:g.72152858_72152868del, NC_000016.10:g.72152859_72152868del, NC_000016.10:g.72152863_72152868del, NC_000016.10:g.72152864_72152868del, NC_000016.10:g.72152865_72152868del, NC_000016.10:g.72152866_72152868del, NC_000016.10:g.72152867_72152868del, NC_000016.10:g.72152868del, NC_000016.10:g.72152868dup, NC_000016.10:g.72152867_72152868dup, NC_000016.10:g.72152866_72152868dup, NC_000016.10:g.72152865_72152868dup, NC_000016.10:g.72152864_72152868dup, NC_000016.10:g.72152863_72152868dup, NC_000016.10:g.72152862_72152868dup, NC_000016.9:g.72186755_72186767del, NC_000016.9:g.72186756_72186767del, NC_000016.9:g.72186757_72186767del, NC_000016.9:g.72186758_72186767del, NC_000016.9:g.72186762_72186767del, NC_000016.9:g.72186763_72186767del, NC_000016.9:g.72186764_72186767del, NC_000016.9:g.72186765_72186767del, NC_000016.9:g.72186766_72186767del, NC_000016.9:g.72186767del, NC_000016.9:g.72186767dup, NC_000016.9:g.72186766_72186767dup, NC_000016.9:g.72186765_72186767dup, NC_000016.9:g.72186764_72186767dup, NC_000016.9:g.72186763_72186767dup, NC_000016.9:g.72186762_72186767dup, NC_000016.9:g.72186761_72186767dup

Select item 14912948783.

rs1491294878 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 16:72152844 (GRCh38)
16:72186743 (GRCh37)
Canonical SPDI:: NC_000016.10:72152843:CA:
Gene:: PMFBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000016.10:g.72152844_72152845del, NC_000016.9:g.72186743_72186744del

Select item 14912175714.

rs1491217571 [Homo sapiens]

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

Select item 14911626295.

rs1491162629 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA,AAA [Show Flanks]
Chromosome:: 16:72117033 (GRCh38)
16:72150933 (GRCh37)
Canonical SPDI:: NC_000016.10:72117033::A,NC_000016.10:72117033::AA,NC_000016.10:72117033::AAA
Gene:: PMFBP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.00096/16 (TOMMO)
A=0.01292/654 (GnomAD)
HGVS:: NC_000016.10:g.72117033_72117034insA, NC_000016.10:g.72117033_72117034insAA, NC_000016.10:g.72117033_72117034insAAA, NC_000016.9:g.72150932_72150933insA, NC_000016.9:g.72150932_72150933insAA, NC_000016.9:g.72150932_72150933insAAA

Select item 14910604866.

rs1491060486 has merged into rs35349842 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:72138925 (GRCh38)
16:72172824 (GRCh37)
Canonical SPDI:: NC_000016.10:72138912:AAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000016.10:72138912:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:72138912:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000016.10:72138912:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:72138912:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:72138912:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:72138912:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000016.10:72138912:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:72138912:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:72138912:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:72138912:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PMFBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
A=0.4197/2102 (1000Genomes)
HGVS:: NC_000016.10:g.72138925_72138928del, NC_000016.10:g.72138927_72138928del, NC_000016.10:g.72138928del, NC_000016.10:g.72138928dup, NC_000016.10:g.72138927_72138928dup, NC_000016.10:g.72138926_72138928dup, NC_000016.10:g.72138925_72138928dup, NC_000016.10:g.72138924_72138928dup, NC_000016.10:g.72138923_72138928dup, NC_000016.10:g.72138922_72138928dup, NC_000016.10:g.72138920_72138928dup, NC_000016.9:g.72172824_72172827del, NC_000016.9:g.72172826_72172827del, NC_000016.9:g.72172827del, NC_000016.9:g.72172827dup, NC_000016.9:g.72172826_72172827dup, NC_000016.9:g.72172825_72172827dup, NC_000016.9:g.72172824_72172827dup, NC_000016.9:g.72172823_72172827dup, NC_000016.9:g.72172822_72172827dup, NC_000016.9:g.72172821_72172827dup, NC_000016.9:g.72172819_72172827dup

Select item 14910536407.

rs1491053640 has merged into rs200488023 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGT>-,GTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 16:72135355 (GRCh38)
16:72169254 (GRCh37)
Canonical SPDI:: NC_000016.10:72135345:TGTGTGTGTGTGTGT:TGTGTGTGT,NC_000016.10:72135345:TGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000016.10:72135345:TGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000016.10:72135345:TGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000016.10:72135345:TGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000016.10:72135345:TGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT
Gene:: PMFBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGT=0./0 (ALFA)
TGTGTG=0.0075/4 (NorthernSweden)
-=0.5/4 (KOREAN)
HGVS:: NC_000016.10:g.72135347GT[4], NC_000016.10:g.72135347GT[6], NC_000016.10:g.72135347GT[8], NC_000016.10:g.72135347GT[9], NC_000016.10:g.72135347GT[10], NC_000016.10:g.72135347GT[11], NC_000016.9:g.72169246GT[4], NC_000016.9:g.72169246GT[6], NC_000016.9:g.72169246GT[8], NC_000016.9:g.72169246GT[9], NC_000016.9:g.72169246GT[10], NC_000016.9:g.72169246GT[11]

Select item 14910198428.

rs1491019842 has merged into rs35908141 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:72140937 (GRCh38)
16:72174836 (GRCh37)
Canonical SPDI:: NC_000016.10:72140928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000016.10:72140928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:72140928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:72140928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:72140928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:72140928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:72140928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:72140928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:72140928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:72140928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:72140928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000016.10:72140928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72140928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72140928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72140928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72140928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72140928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72140928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72140928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72140928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72140928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72140928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72140928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72140928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72140928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72140928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72140928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72140928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72140928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72140928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72140928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72140928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72140928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72140928:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PMFBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
HGVS:: NC_000016.10:g.72140937_72140952del, NC_000016.10:g.72140940_72140952del, NC_000016.10:g.72140941_72140952del, NC_000016.10:g.72140942_72140952del, NC_000016.10:g.72140943_72140952del, NC_000016.10:g.72140944_72140952del, NC_000016.10:g.72140945_72140952del, NC_000016.10:g.72140946_72140952del, NC_000016.10:g.72140947_72140952del, NC_000016.10:g.72140948_72140952del, NC_000016.10:g.72140949_72140952del, NC_000016.10:g.72140950_72140952del, NC_000016.10:g.72140951_72140952del, NC_000016.10:g.72140952del, NC_000016.10:g.72140952dup, NC_000016.10:g.72140951_72140952dup, NC_000016.10:g.72140950_72140952dup, NC_000016.10:g.72140949_72140952dup, NC_000016.10:g.72140948_72140952dup, NC_000016.10:g.72140947_72140952dup, NC_000016.10:g.72140946_72140952dup, NC_000016.10:g.72140945_72140952dup, NC_000016.10:g.72140943_72140952dup, NC_000016.10:g.72140942_72140952dup, NC_000016.10:g.72140941_72140952dup, NC_000016.10:g.72140940_72140952dup, NC_000016.10:g.72140939_72140952dup, NC_000016.10:g.72140938_72140952dup, NC_000016.10:g.72140937_72140952dup, NC_000016.10:g.72140936_72140952dup, NC_000016.10:g.72140935_72140952dup, NC_000016.10:g.72140934_72140952dup, NC_000016.10:g.72140932_72140952dup, NC_000016.10:g.72140931_72140952dup, NC_000016.9:g.72174836_72174851del, NC_000016.9:g.72174839_72174851del, NC_000016.9:g.72174840_72174851del, NC_000016.9:g.72174841_72174851del, NC_000016.9:g.72174842_72174851del, NC_000016.9:g.72174843_72174851del, NC_000016.9:g.72174844_72174851del, NC_000016.9:g.72174845_72174851del, NC_000016.9:g.72174846_72174851del, NC_000016.9:g.72174847_72174851del, NC_000016.9:g.72174848_72174851del, NC_000016.9:g.72174849_72174851del, NC_000016.9:g.72174850_72174851del, NC_000016.9:g.72174851del, NC_000016.9:g.72174851dup, NC_000016.9:g.72174850_72174851dup, NC_000016.9:g.72174849_72174851dup, NC_000016.9:g.72174848_72174851dup, NC_000016.9:g.72174847_72174851dup, NC_000016.9:g.72174846_72174851dup, NC_000016.9:g.72174845_72174851dup, NC_000016.9:g.72174844_72174851dup, NC_000016.9:g.72174842_72174851dup, NC_000016.9:g.72174841_72174851dup, NC_000016.9:g.72174840_72174851dup, NC_000016.9:g.72174839_72174851dup, NC_000016.9:g.72174838_72174851dup, NC_000016.9:g.72174837_72174851dup, NC_000016.9:g.72174836_72174851dup, NC_000016.9:g.72174835_72174851dup, NC_000016.9:g.72174834_72174851dup, NC_000016.9:g.72174833_72174851dup, NC_000016.9:g.72174831_72174851dup, NC_000016.9:g.72174830_72174851dup

Select item 14910070109.

rs1491007010 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 16:72135764 (GRCh38)
16:72169663 (GRCh37)
Canonical SPDI:: NC_000016.10:72135763:TG:
Gene:: PMFBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000016.10:g.72135764_72135765del, NC_000016.9:g.72169663_72169664del

Select item 149100594610.

rs1491005946 has merged into rs35283042 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 16:72117045 (GRCh38)
16:72150944 (GRCh37)
Canonical SPDI:: NC_000016.10:72117034:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000016.10:72117034:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000016.10:72117034:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000016.10:72117034:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000016.10:72117034:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000016.10:72117034:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000016.10:72117034:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000016.10:72117034:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000016.10:72117034:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:72117034:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:72117034:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:72117034:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000016.10:72117034:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PMFBP1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.72117045_72117054del, NC_000016.10:g.72117048_72117054del, NC_000016.10:g.72117049_72117054del, NC_000016.10:g.72117051_72117054del, NC_000016.10:g.72117052_72117054del, NC_000016.10:g.72117053_72117054del, NC_000016.10:g.72117054del, NC_000016.10:g.72117054dup, NC_000016.10:g.72117053_72117054dup, NC_000016.10:g.72117052_72117054dup, NC_000016.10:g.72117051_72117054dup, NC_000016.10:g.72117050_72117054dup, NC_000016.10:g.72117044_72117054dup, NC_000016.9:g.72150944_72150953del, NC_000016.9:g.72150947_72150953del, NC_000016.9:g.72150948_72150953del, NC_000016.9:g.72150950_72150953del, NC_000016.9:g.72150951_72150953del, NC_000016.9:g.72150952_72150953del, NC_000016.9:g.72150953del, NC_000016.9:g.72150953dup, NC_000016.9:g.72150952_72150953dup, NC_000016.9:g.72150951_72150953dup, NC_000016.9:g.72150950_72150953dup, NC_000016.9:g.72150949_72150953dup, NC_000016.9:g.72150943_72150953dup

Select item 149099557911.

rs1490995579 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:72174112 (GRCh38)
16:72208011 (GRCh37)
Canonical SPDI:: NC_000016.10:72174111:C:T
Gene:: PMFBP1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000016.10:g.72174112C>T, NC_000016.9:g.72208011C>T

Select item 149098286712.

rs1490982867 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 16:72165550 (GRCh38)
16:72199449 (GRCh37)
Canonical SPDI:: NC_000016.10:72165549:T:C,NC_000016.10:72165549:T:G
Gene:: PMFBP1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
HGVS:: NC_000016.10:g.72165550T>C, NC_000016.10:g.72165550T>G, NC_000016.9:g.72199449T>C, NC_000016.9:g.72199449T>G

Select item 149095771613.

rs1490957716 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:72163120 (GRCh38)
16:72197019 (GRCh37)
Canonical SPDI:: NC_000016.10:72163119:G:A
Gene:: PMFBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.72163120G>A, NC_000016.9:g.72197019G>A

Select item 149089354614.

rs1490893546 has merged into rs869189990 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTATGGTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTATGTTGTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 16:72135750 (GRCh38)
16:72169649 (GRCh37)
Canonical SPDI:: NC_000016.10:72135740:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000016.10:72135740:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000016.10:72135740:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000016.10:72135740:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000016.10:72135740:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000016.10:72135740:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000016.10:72135740:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000016.10:72135740:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000016.10:72135740:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000016.10:72135740:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000016.10:72135740:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000016.10:72135740:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72135740:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72135740:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72135740:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72135740:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72135740:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72135740:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72135740:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72135740:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTATGGTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72135740:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTATGTTGTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72135740:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72135740:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72135740:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72135740:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72135740:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72135740:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72135740:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72135740:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72135740:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72135740:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72135740:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72135740:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72135740:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72135740:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72135740:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000016.10:72135740:TTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: PMFBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000016.10:g.72135750_72135764del, NC_000016.10:g.72135751_72135764del, NC_000016.10:g.72135752_72135764del, NC_000016.10:g.72135753_72135764del, NC_000016.10:g.72135754_72135764del, NC_000016.10:g.72135755_72135764del, NC_000016.10:g.72135756_72135764del, NC_000016.10:g.72135757_72135764del, NC_000016.10:g.72135758_72135764del, NC_000016.10:g.72135759_72135764del, NC_000016.10:g.72135760_72135764del, NC_000016.10:g.72135762_72135764del, NC_000016.10:g.72135763_72135764del, NC_000016.10:g.72135764del, NC_000016.10:g.72135764dup, NC_000016.10:g.72135763_72135764dup, NC_000016.10:g.72135762_72135764dup, NC_000016.10:g.72135761_72135764dup, NC_000016.10:g.72135760_72135764dup, NC_000016.10:g.72135741_72135764T[29]ATGGTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000016.10:g.72135741_72135764T[29]ATGTTGTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000016.10:g.72135759_72135764dup, NC_000016.10:g.72135758_72135764dup, NC_000016.10:g.72135757_72135764dup, NC_000016.10:g.72135756_72135764dup, NC_000016.10:g.72135755_72135764dup, NC_000016.10:g.72135754_72135764dup, NC_000016.10:g.72135753_72135764dup, NC_000016.10:g.72135752_72135764dup, NC_000016.10:g.72135750_72135764dup, NC_000016.10:g.72135748_72135764dup, NC_000016.10:g.72135747_72135764dup, NC_000016.10:g.72135746_72135764dup, NC_000016.10:g.72135745_72135764dup, NC_000016.10:g.72135744_72135764dup, NC_000016.10:g.72135764_72135765insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.10:g.72135764_72135765insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.72169649_72169663del, NC_000016.9:g.72169650_72169663del, NC_000016.9:g.72169651_72169663del, NC_000016.9:g.72169652_72169663del, NC_000016.9:g.72169653_72169663del, NC_000016.9:g.72169654_72169663del, NC_000016.9:g.72169655_72169663del, NC_000016.9:g.72169656_72169663del, NC_000016.9:g.72169657_72169663del, NC_000016.9:g.72169658_72169663del, NC_000016.9:g.72169659_72169663del, NC_000016.9:g.72169661_72169663del, NC_000016.9:g.72169662_72169663del, NC_000016.9:g.72169663del, NC_000016.9:g.72169663dup, NC_000016.9:g.72169662_72169663dup, NC_000016.9:g.72169661_72169663dup, NC_000016.9:g.72169660_72169663dup, NC_000016.9:g.72169659_72169663dup, NC_000016.9:g.72169640_72169663T[29]ATGGTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000016.9:g.72169640_72169663T[29]ATGTTGTTTTTTTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NC_000016.9:g.72169658_72169663dup, NC_000016.9:g.72169657_72169663dup, NC_000016.9:g.72169656_72169663dup, NC_000016.9:g.72169655_72169663dup, NC_000016.9:g.72169654_72169663dup, NC_000016.9:g.72169653_72169663dup, NC_000016.9:g.72169652_72169663dup, NC_000016.9:g.72169651_72169663dup, NC_000016.9:g.72169649_72169663dup, NC_000016.9:g.72169647_72169663dup, NC_000016.9:g.72169646_72169663dup, NC_000016.9:g.72169645_72169663dup, NC_000016.9:g.72169644_72169663dup, NC_000016.9:g.72169643_72169663dup, NC_000016.9:g.72169663_72169664insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000016.9:g.72169663_72169664insTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149085238515.

rs1490852385 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:72140491 (GRCh38)
16:72174390 (GRCh37)
Canonical SPDI:: NC_000016.10:72140490:G:T
Gene:: PMFBP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.72140491G>T, NC_000016.9:g.72174390G>T, XM_011523361.4:c.728C>A, XM_011523361.3:c.728C>A, XM_011523361.2:c.728C>A, XM_011523361.1:c.728C>A, XM_011523360.4:c.728C>A, XM_011523360.3:c.728C>A, XM_011523360.2:c.728C>A, XM_011523360.1:c.728C>A, XM_011523358.4:c.728C>A, XM_011523358.3:c.728C>A, XM_011523358.2:c.728C>A, XM_011523358.1:c.728C>A, XM_011523357.4:c.728C>A, XM_011523357.3:c.728C>A, XM_011523357.2:c.728C>A, XM_011523357.1:c.728C>A, XM_011523362.4:c.719C>A, XM_011523362.3:c.719C>A, XM_011523362.2:c.719C>A, XM_011523362.1:c.719C>A, NM_031293.3:c.728C>A, NM_031293.2:c.728C>A, NM_001160213.2:c.293C>A, NM_001160213.1:c.293C>A, XM_047434734.1:c.728C>A, XM_047434735.1:c.38C>A, XP_011521663.1:p.Ser243Tyr, XP_011521662.1:p.Ser243Tyr, XP_011521660.1:p.Ser243Tyr, XP_011521659.1:p.Ser243Tyr, XP_011521664.1:p.Ser240Tyr, NP_112583.2:p.Ser243Tyr, NP_001153685.1:p.Ser98Tyr, XP_047290690.1:p.Ser243Tyr, XP_047290691.1:p.Ser13Tyr

Select item 149077409516.

rs1490774095 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 16:72128903 (GRCh38)
16:72162802 (GRCh37)
Canonical SPDI:: NC_000016.10:72128902:G:T
Gene:: PMFBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000016.10:g.72128903G>T, NC_000016.9:g.72162802G>T

Select item 149075127217.

rs1490751272 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:72144063 (GRCh38)
16:72177962 (GRCh37)
Canonical SPDI:: NC_000016.10:72144062:T:C
Gene:: PMFBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.72144063T>C, NC_000016.9:g.72177962T>C

Select item 149072498818.

rs1490724988 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 16:72147100 (GRCh38)
16:72180999 (GRCh37)
Canonical SPDI:: NC_000016.10:72147099:A:G
Gene:: PMFBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000214/3 (ALFA)
G=0.000034/9 (TOPMED)
G=0.00005/7 (GnomAD)
HGVS:: NC_000016.10:g.72147100A>G, NC_000016.9:g.72180999A>G

Select item 149059601619.

rs1490596016 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:72165363 (GRCh38)
16:72199262 (GRCh37)
Canonical SPDI:: NC_000016.10:72165362:C:T
Gene:: PMFBP1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.72165363C>T, NC_000016.9:g.72199262C>T

Select item 149058204620.

rs1490582046 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 16:72150419 (GRCh38)
16:72184318 (GRCh37)
Canonical SPDI:: NC_000016.10:72150418:T:C
Gene:: PMFBP1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.72150419T>C, NC_000016.9:g.72184318T>C

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