SNP Links for Gene (Select 5420) - SNP

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Select item 14915296641.

rs1491529664 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCACACACACACAC>- [Show Flanks]
Chromosome:: 7:131524362 (GRCh38)
7:131209121 (GRCh37)
Canonical SPDI:: NC_000007.14:131524348:CACACACACACACGCACACACACACAC:CACACACACACAC
Gene:: PODXL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CACACACACACAC=0./0 (ALFA)
HGVS:: NC_000007.14:g.131524362_131524375del, NC_000007.13:g.131209121_131209134del, NG_042104.1:g.37256_37269del

Select item 14915222782.

rs1491522278 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:131546725 (GRCh38)
7:131231484 (GRCh37)
Canonical SPDI:: NC_000007.14:131546724:CA:
Gene:: PODXL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00034/4 (ALFA)
HGVS:: NC_000007.14:g.131546725_131546726del, NC_000007.13:g.131231484_131231485del, NG_042104.1:g.14892_14893del

Select item 14915049053.

rs1491504905 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTAT [Show Flanks]
Chromosome:: 7:131499781 (GRCh38)
7:131184541 (GRCh37)
Canonical SPDI:: NC_000007.14:131499781:TAT:TATGTAT
Gene:: PODXL (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: TATGTAT=0./0 (ALFA)
TATG=0.00086/8 (GnomAD)
HGVS:: NC_000007.14:g.131499784_131499785insGTAT, NC_000007.13:g.131184543_131184544insGTAT, NG_042104.1:g.61836_61837insCATA

Select item 14914698664.

rs1491469866 has merged into rs753654977 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAAAAAA>-,AA,AAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:131523684 (GRCh38)
7:131208443 (GRCh37)
Canonical SPDI:: NC_000007.14:131523678:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAA,NC_000007.14:131523678:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAA,NC_000007.14:131523678:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000007.14:131523678:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000007.14:131523678:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:131523678:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:131523678:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:131523678:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:131523678:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:131523678:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:131523678:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:131523678:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131523678:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131523678:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131523678:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131523678:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131523678:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131523678:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131523678:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131523678:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131523678:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131523678:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131523678:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131523678:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131523678:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131523678:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131523678:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131523678:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131523678:AAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PODXL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000007.14:g.131523684_131523702del, NC_000007.14:g.131523686_131523702del, NC_000007.14:g.131523687_131523702del, NC_000007.14:g.131523689_131523702del, NC_000007.14:g.131523691_131523702del, NC_000007.14:g.131523692_131523702del, NC_000007.14:g.131523693_131523702del, NC_000007.14:g.131523695_131523702del, NC_000007.14:g.131523696_131523702del, NC_000007.14:g.131523698_131523702del, NC_000007.14:g.131523699_131523702del, NC_000007.14:g.131523700_131523702del, NC_000007.14:g.131523701_131523702del, NC_000007.14:g.131523702del, NC_000007.14:g.131523702dup, NC_000007.14:g.131523701_131523702dup, NC_000007.14:g.131523700_131523702dup, NC_000007.14:g.131523699_131523702dup, NC_000007.14:g.131523698_131523702dup, NC_000007.14:g.131523697_131523702dup, NC_000007.14:g.131523693_131523702dup, NC_000007.14:g.131523686_131523702dup, NC_000007.14:g.131523679_131523702dup, NC_000007.14:g.131523702_131523703insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.131523702_131523703insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.131523702_131523703insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.131523702_131523703insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.14:g.131523679_131523702A[29]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.14:g.131523679_131523702A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.131208443_131208461del, NC_000007.13:g.131208445_131208461del, NC_000007.13:g.131208446_131208461del, NC_000007.13:g.131208448_131208461del, NC_000007.13:g.131208450_131208461del, NC_000007.13:g.131208451_131208461del, NC_000007.13:g.131208452_131208461del, NC_000007.13:g.131208454_131208461del, NC_000007.13:g.131208455_131208461del, NC_000007.13:g.131208457_131208461del, NC_000007.13:g.131208458_131208461del, NC_000007.13:g.131208459_131208461del, NC_000007.13:g.131208460_131208461del, NC_000007.13:g.131208461del, NC_000007.13:g.131208461dup, NC_000007.13:g.131208460_131208461dup, NC_000007.13:g.131208459_131208461dup, NC_000007.13:g.131208458_131208461dup, NC_000007.13:g.131208457_131208461dup, NC_000007.13:g.131208456_131208461dup, NC_000007.13:g.131208452_131208461dup, NC_000007.13:g.131208445_131208461dup, NC_000007.13:g.131208438_131208461dup, NC_000007.13:g.131208461_131208462insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.131208461_131208462insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.131208461_131208462insAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.131208461_131208462insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.131208438_131208461A[29]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000007.13:g.131208438_131208461A[26]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_042104.1:g.37921_37939del, NG_042104.1:g.37923_37939del, NG_042104.1:g.37924_37939del, NG_042104.1:g.37926_37939del, NG_042104.1:g.37928_37939del, NG_042104.1:g.37929_37939del, NG_042104.1:g.37930_37939del, NG_042104.1:g.37932_37939del, NG_042104.1:g.37933_37939del, NG_042104.1:g.37935_37939del, NG_042104.1:g.37936_37939del, NG_042104.1:g.37937_37939del, NG_042104.1:g.37938_37939del, NG_042104.1:g.37939del, NG_042104.1:g.37939dup, NG_042104.1:g.37938_37939dup, NG_042104.1:g.37937_37939dup, NG_042104.1:g.37936_37939dup, NG_042104.1:g.37935_37939dup, NG_042104.1:g.37934_37939dup, NG_042104.1:g.37930_37939dup, NG_042104.1:g.37923_37939dup, NG_042104.1:g.37916_37939dup, NG_042104.1:g.37939_37940insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_042104.1:g.37939_37940insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_042104.1:g.37939_37940insTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_042104.1:g.37939_37940insTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_042104.1:g.37916_37939T[34]CTTTTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_042104.1:g.37916_37939T[38]CTTTTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 14914691845.

rs1491469184 has merged into rs10593482 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:131546739 (GRCh38)
7:131231498 (GRCh37)
Canonical SPDI:: NC_000007.14:131546725:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:131546725:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:131546725:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:131546725:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:131546725:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:131546725:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:131546725:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:131546725:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131546725:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131546725:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131546725:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131546725:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131546725:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131546725:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131546725:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131546725:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131546725:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PODXL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000007.14:g.131546739_131546752del, NC_000007.14:g.131546740_131546752del, NC_000007.14:g.131546741_131546752del, NC_000007.14:g.131546742_131546752del, NC_000007.14:g.131546744_131546752del, NC_000007.14:g.131546745_131546752del, NC_000007.14:g.131546746_131546752del, NC_000007.14:g.131546747_131546752del, NC_000007.14:g.131546748_131546752del, NC_000007.14:g.131546749_131546752del, NC_000007.14:g.131546750_131546752del, NC_000007.14:g.131546751_131546752del, NC_000007.14:g.131546752del, NC_000007.14:g.131546752dup, NC_000007.14:g.131546751_131546752dup, NC_000007.14:g.131546750_131546752dup, NC_000007.14:g.131546747_131546752dup, NC_000007.13:g.131231498_131231511del, NC_000007.13:g.131231499_131231511del, NC_000007.13:g.131231500_131231511del, NC_000007.13:g.131231501_131231511del, NC_000007.13:g.131231503_131231511del, NC_000007.13:g.131231504_131231511del, NC_000007.13:g.131231505_131231511del, NC_000007.13:g.131231506_131231511del, NC_000007.13:g.131231507_131231511del, NC_000007.13:g.131231508_131231511del, NC_000007.13:g.131231509_131231511del, NC_000007.13:g.131231510_131231511del, NC_000007.13:g.131231511del, NC_000007.13:g.131231511dup, NC_000007.13:g.131231510_131231511dup, NC_000007.13:g.131231509_131231511dup, NC_000007.13:g.131231506_131231511dup, NG_042104.1:g.14879_14892del, NG_042104.1:g.14880_14892del, NG_042104.1:g.14881_14892del, NG_042104.1:g.14882_14892del, NG_042104.1:g.14884_14892del, NG_042104.1:g.14885_14892del, NG_042104.1:g.14886_14892del, NG_042104.1:g.14887_14892del, NG_042104.1:g.14888_14892del, NG_042104.1:g.14889_14892del, NG_042104.1:g.14890_14892del, NG_042104.1:g.14891_14892del, NG_042104.1:g.14892del, NG_042104.1:g.14892dup, NG_042104.1:g.14891_14892dup, NG_042104.1:g.14890_14892dup, NG_042104.1:g.14887_14892dup

Select item 14914452906.

rs1491445290 has merged into rs1416965067 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CA,CACACA,CACACACA [Show Flanks]
Chromosome:: 7:131524377 (GRCh38)
7:131209136 (GRCh37)
Canonical SPDI:: NC_000007.14:131524362:CACACACACACACACACA:CACACACACACACA,NC_000007.14:131524362:CACACACACACACACACA:CACACACACACACACA,NC_000007.14:131524362:CACACACACACACACACA:CACACACACACACACACACA,NC_000007.14:131524362:CACACACACACACACACA:CACACACACACACACACACACA
Gene:: PODXL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACACA=0./0 (ALFA)
HGVS:: NC_000007.14:g.131524363CA[7], NC_000007.14:g.131524363CA[8], NC_000007.14:g.131524363CA[10], NC_000007.14:g.131524363CA[11], NC_000007.13:g.131209122CA[7], NC_000007.13:g.131209122CA[8], NC_000007.13:g.131209122CA[10], NC_000007.13:g.131209122CA[11], NG_042104.1:g.37238TG[7], NG_042104.1:g.37238TG[8], NG_042104.1:g.37238TG[10], NG_042104.1:g.37238TG[11]

Select item 14914393387.

rs1491439338 [Homo sapiens]

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

Select item 14914041388.

rs1491404138 has merged into rs10593482 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:131546739 (GRCh38)
7:131231498 (GRCh37)
Canonical SPDI:: NC_000007.14:131546725:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:131546725:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000007.14:131546725:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:131546725:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:131546725:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:131546725:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:131546725:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000007.14:131546725:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131546725:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131546725:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131546725:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131546725:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131546725:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131546725:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131546725:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131546725:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131546725:AAAAAAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PODXL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000007.14:g.131546739_131546752del, NC_000007.14:g.131546740_131546752del, NC_000007.14:g.131546741_131546752del, NC_000007.14:g.131546742_131546752del, NC_000007.14:g.131546744_131546752del, NC_000007.14:g.131546745_131546752del, NC_000007.14:g.131546746_131546752del, NC_000007.14:g.131546747_131546752del, NC_000007.14:g.131546748_131546752del, NC_000007.14:g.131546749_131546752del, NC_000007.14:g.131546750_131546752del, NC_000007.14:g.131546751_131546752del, NC_000007.14:g.131546752del, NC_000007.14:g.131546752dup, NC_000007.14:g.131546751_131546752dup, NC_000007.14:g.131546750_131546752dup, NC_000007.14:g.131546747_131546752dup, NC_000007.13:g.131231498_131231511del, NC_000007.13:g.131231499_131231511del, NC_000007.13:g.131231500_131231511del, NC_000007.13:g.131231501_131231511del, NC_000007.13:g.131231503_131231511del, NC_000007.13:g.131231504_131231511del, NC_000007.13:g.131231505_131231511del, NC_000007.13:g.131231506_131231511del, NC_000007.13:g.131231507_131231511del, NC_000007.13:g.131231508_131231511del, NC_000007.13:g.131231509_131231511del, NC_000007.13:g.131231510_131231511del, NC_000007.13:g.131231511del, NC_000007.13:g.131231511dup, NC_000007.13:g.131231510_131231511dup, NC_000007.13:g.131231509_131231511dup, NC_000007.13:g.131231506_131231511dup, NG_042104.1:g.14879_14892del, NG_042104.1:g.14880_14892del, NG_042104.1:g.14881_14892del, NG_042104.1:g.14882_14892del, NG_042104.1:g.14884_14892del, NG_042104.1:g.14885_14892del, NG_042104.1:g.14886_14892del, NG_042104.1:g.14887_14892del, NG_042104.1:g.14888_14892del, NG_042104.1:g.14889_14892del, NG_042104.1:g.14890_14892del, NG_042104.1:g.14891_14892del, NG_042104.1:g.14892del, NG_042104.1:g.14892dup, NG_042104.1:g.14891_14892dup, NG_042104.1:g.14890_14892dup, NG_042104.1:g.14887_14892dup

Select item 14913937109.

rs1491393710 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:131523678 (GRCh38)
7:131208437 (GRCh37)
Canonical SPDI:: NC_000007.14:131523677:CA:
Gene:: PODXL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00742/88 (ALFA)
-=0.0085/132 (TOMMO)
HGVS:: NC_000007.14:g.131523678_131523679del, NC_000007.13:g.131208437_131208438del, NG_042104.1:g.37939_37940del

Select item 149135985510.

rs1491359855 has merged into rs751439198 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATATATATATATATATATATATA>-,TA,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA [Show Flanks]
Chromosome:: 7:131499790 (GRCh38)
7:131184549 (GRCh37)
Canonical SPDI:: NC_000007.14:131499780:ATATATATATATATATATATATATATATATATATATA:ATATATATA,NC_000007.14:131499780:ATATATATATATATATATATATATATATATATATATA:ATATATATATA,NC_000007.14:131499780:ATATATATATATATATATATATATATATATATATATA:ATATATATATATA,NC_000007.14:131499780:ATATATATATATATATATATATATATATATATATATA:ATATATATATATATA,NC_000007.14:131499780:ATATATATATATATATATATATATATATATATATATA:ATATATATATATATATA,NC_000007.14:131499780:ATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATA,NC_000007.14:131499780:ATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATA,NC_000007.14:131499780:ATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATA,NC_000007.14:131499780:ATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATA,NC_000007.14:131499780:ATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATA,NC_000007.14:131499780:ATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATA,NC_000007.14:131499780:ATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATA,NC_000007.14:131499780:ATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATA,NC_000007.14:131499780:ATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATA,NC_000007.14:131499780:ATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATA,NC_000007.14:131499780:ATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATA,NC_000007.14:131499780:ATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATA,NC_000007.14:131499780:ATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATA,NC_000007.14:131499780:ATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATA,NC_000007.14:131499780:ATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000007.14:131499780:ATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000007.14:131499780:ATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000007.14:131499780:ATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000007.14:131499780:ATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000007.14:131499780:ATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000007.14:131499780:ATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000007.14:131499780:ATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000007.14:131499780:ATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000007.14:131499780:ATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATATA
Gene:: PODXL (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATA=0./0 (ALFA)
HGVS:: NC_000007.14:g.131499782TA[4], NC_000007.14:g.131499782TA[5], NC_000007.14:g.131499782TA[6], NC_000007.14:g.131499782TA[7], NC_000007.14:g.131499782TA[8], NC_000007.14:g.131499782TA[9], NC_000007.14:g.131499782TA[10], NC_000007.14:g.131499782TA[11], NC_000007.14:g.131499782TA[12], NC_000007.14:g.131499782TA[13], NC_000007.14:g.131499782TA[14], NC_000007.14:g.131499782TA[15], NC_000007.14:g.131499782TA[16], NC_000007.14:g.131499782TA[17], NC_000007.14:g.131499782TA[19], NC_000007.14:g.131499782TA[20], NC_000007.14:g.131499782TA[21], NC_000007.14:g.131499782TA[22], NC_000007.14:g.131499782TA[23], NC_000007.14:g.131499782TA[24], NC_000007.14:g.131499782TA[25], NC_000007.14:g.131499782TA[26], NC_000007.14:g.131499782TA[27], NC_000007.14:g.131499782TA[28], NC_000007.14:g.131499782TA[29], NC_000007.14:g.131499782TA[30], NC_000007.14:g.131499782TA[31], NC_000007.14:g.131499782TA[32], NC_000007.14:g.131499782TA[34], NC_000007.13:g.131184541TA[4], NC_000007.13:g.131184541TA[5], NC_000007.13:g.131184541TA[6], NC_000007.13:g.131184541TA[7], NC_000007.13:g.131184541TA[8], NC_000007.13:g.131184541TA[9], NC_000007.13:g.131184541TA[10], NC_000007.13:g.131184541TA[11], NC_000007.13:g.131184541TA[12], NC_000007.13:g.131184541TA[13], NC_000007.13:g.131184541TA[14], NC_000007.13:g.131184541TA[15], NC_000007.13:g.131184541TA[16], NC_000007.13:g.131184541TA[17], NC_000007.13:g.131184541TA[19], NC_000007.13:g.131184541TA[20], NC_000007.13:g.131184541TA[21], NC_000007.13:g.131184541TA[22], NC_000007.13:g.131184541TA[23], NC_000007.13:g.131184541TA[24], NC_000007.13:g.131184541TA[25], NC_000007.13:g.131184541TA[26], NC_000007.13:g.131184541TA[27], NC_000007.13:g.131184541TA[28], NC_000007.13:g.131184541TA[29], NC_000007.13:g.131184541TA[30], NC_000007.13:g.131184541TA[31], NC_000007.13:g.131184541TA[32], NC_000007.13:g.131184541TA[34], NG_042104.1:g.61802AT[4], NG_042104.1:g.61802AT[5], NG_042104.1:g.61802AT[6], NG_042104.1:g.61802AT[7], NG_042104.1:g.61802AT[8], NG_042104.1:g.61802AT[9], NG_042104.1:g.61802AT[10], NG_042104.1:g.61802AT[11], NG_042104.1:g.61802AT[12], NG_042104.1:g.61802AT[13], NG_042104.1:g.61802AT[14], NG_042104.1:g.61802AT[15], NG_042104.1:g.61802AT[16], NG_042104.1:g.61802AT[17], NG_042104.1:g.61802AT[19], NG_042104.1:g.61802AT[20], NG_042104.1:g.61802AT[21], NG_042104.1:g.61802AT[22], NG_042104.1:g.61802AT[23], NG_042104.1:g.61802AT[24], NG_042104.1:g.61802AT[25], NG_042104.1:g.61802AT[26], NG_042104.1:g.61802AT[27], NG_042104.1:g.61802AT[28], NG_042104.1:g.61802AT[29], NG_042104.1:g.61802AT[30], NG_042104.1:g.61802AT[31], NG_042104.1:g.61802AT[32], NG_042104.1:g.61802AT[34]

Select item 149135130211.

rs1491351302 has merged into rs1222175582 [Homo sapiens]

Variant type:: DELINS
Alleles:: AC>-,ACAC,ACACAC,ACACACACAC,ACACACACACAC,ACACACACACACAC,ACACACACACACACAC,ACACACACACACACACAC [Show Flanks]
Chromosome:: 7:131524360 (GRCh38)
7:131209119 (GRCh37)
Canonical SPDI:: NC_000007.14:131524347:ACACACACACACAC:ACACACACACAC,NC_000007.14:131524347:ACACACACACACAC:ACACACACACACACAC,NC_000007.14:131524347:ACACACACACACAC:ACACACACACACACACAC,NC_000007.14:131524347:ACACACACACACAC:ACACACACACACACACACACAC,NC_000007.14:131524347:ACACACACACACAC:ACACACACACACACACACACACAC,NC_000007.14:131524347:ACACACACACACAC:ACACACACACACACACACACACACAC,NC_000007.14:131524347:ACACACACACACAC:ACACACACACACACACACACACACACAC,NC_000007.14:131524347:ACACACACACACAC:ACACACACACACACACACACACACACACAC
Gene:: PODXL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACACACACACACACAC=0./0 (ALFA)
AC=0.00006/1 (TOMMO)
HGVS:: NC_000007.14:g.131524348AC[6], NC_000007.14:g.131524348AC[8], NC_000007.14:g.131524348AC[9], NC_000007.14:g.131524348AC[11], NC_000007.14:g.131524348AC[12], NC_000007.14:g.131524348AC[13], NC_000007.14:g.131524348AC[14], NC_000007.14:g.131524348AC[15], NC_000007.13:g.131209107AC[6], NC_000007.13:g.131209107AC[8], NC_000007.13:g.131209107AC[9], NC_000007.13:g.131209107AC[11], NC_000007.13:g.131209107AC[12], NC_000007.13:g.131209107AC[13], NC_000007.13:g.131209107AC[14], NC_000007.13:g.131209107AC[15], NG_042104.1:g.37257GT[6], NG_042104.1:g.37257GT[8], NG_042104.1:g.37257GT[9], NG_042104.1:g.37257GT[11], NG_042104.1:g.37257GT[12], NG_042104.1:g.37257GT[13], NG_042104.1:g.37257GT[14], NG_042104.1:g.37257GT[15]

Select item 149134558512.

rs1491345585 [Homo sapiens]

Variant type:: INS
Alleles:: ->T [Show Flanks]
Chromosome:: 7:131546726 (GRCh38)
7:131231486 (GRCh37)
Canonical SPDI:: NC_000007.14:131546726::T
Gene:: PODXL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.131546726_131546727insT, NC_000007.13:g.131231485_131231486insT, NG_042104.1:g.14891_14892insA

Select item 149133855013.

rs1491338550 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->ACACACACGT [Show Flanks]
Chromosome:: 7:131550802 (GRCh38)
7:131235562 (GRCh37)
Canonical SPDI:: NC_000007.14:131550802:ACACACACGT:ACACACACGTACACACACGT
Gene:: PODXL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACACACACGTACACACACGT=0./0 (ALFA)
HGVS:: NC_000007.14:g.131550803_131550812dup, NC_000007.13:g.131235562_131235571dup, NG_042104.1:g.10806_10815dup

Select item 149105938814.

rs1491059388 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 7:131510334 (GRCh38)
7:131195093 (GRCh37)
Canonical SPDI:: NC_000007.14:131510333:TG:
Gene:: PODXL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.0148/19 (GoESP)
HGVS:: NC_000007.14:g.131510334_131510335del, NC_000007.13:g.131195093_131195094del, NG_042104.1:g.51283_51284del

Select item 149103721715.

rs1491037217 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAGA [Show Flanks]
Chromosome:: 7:131500050 (GRCh38)
7:131184810 (GRCh37)
Canonical SPDI:: NC_000007.14:131500050:AAAGA:AAAGAAAGA
Gene:: PODXL (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAGAAAGA=0./0 (ALFA)
AAAG=0.000015/2 (GnomAD)
HGVS:: NC_000007.14:g.131500052_131500055dup, NC_000007.13:g.131184811_131184814dup, NG_042104.1:g.61564_61567dup

Select item 149102575616.

rs1491025756 has merged into rs60701480 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 7:131513004 (GRCh38)
7:131197763 (GRCh37)
Canonical SPDI:: NC_000007.14:131512994:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000007.14:131512994:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000007.14:131512994:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000007.14:131512994:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000007.14:131512994:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000007.14:131512994:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000007.14:131512994:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000007.14:131512994:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000007.14:131512994:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131512994:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131512994:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131512994:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131512994:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131512994:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131512994:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131512994:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131512994:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131512994:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000007.14:131512994:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: PODXL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
-=0.000023/6 (TOPMED)
-=0.375/15 (GENOME_DK)
HGVS:: NC_000007.14:g.131513004_131513014del, NC_000007.14:g.131513007_131513014del, NC_000007.14:g.131513008_131513014del, NC_000007.14:g.131513010_131513014del, NC_000007.14:g.131513011_131513014del, NC_000007.14:g.131513012_131513014del, NC_000007.14:g.131513013_131513014del, NC_000007.14:g.131513014del, NC_000007.14:g.131513014dup, NC_000007.14:g.131513013_131513014dup, NC_000007.14:g.131513012_131513014dup, NC_000007.14:g.131513011_131513014dup, NC_000007.14:g.131513010_131513014dup, NC_000007.14:g.131513009_131513014dup, NC_000007.14:g.131513008_131513014dup, NC_000007.14:g.131513007_131513014dup, NC_000007.14:g.131513005_131513014dup, NC_000007.14:g.131512995_131513014dup, NC_000007.14:g.131513014_131513015insAAAAAAAAAAAAAAAAAAAAAAA, NC_000007.13:g.131197763_131197773del, NC_000007.13:g.131197766_131197773del, NC_000007.13:g.131197767_131197773del, NC_000007.13:g.131197769_131197773del, NC_000007.13:g.131197770_131197773del, NC_000007.13:g.131197771_131197773del, NC_000007.13:g.131197772_131197773del, NC_000007.13:g.131197773del, NC_000007.13:g.131197773dup, NC_000007.13:g.131197772_131197773dup, NC_000007.13:g.131197771_131197773dup, NC_000007.13:g.131197770_131197773dup, NC_000007.13:g.131197769_131197773dup, NC_000007.13:g.131197768_131197773dup, NC_000007.13:g.131197767_131197773dup, NC_000007.13:g.131197766_131197773dup, NC_000007.13:g.131197764_131197773dup, NC_000007.13:g.131197754_131197773dup, NC_000007.13:g.131197773_131197774insAAAAAAAAAAAAAAAAAAAAAAA, NG_042104.1:g.48613_48623del, NG_042104.1:g.48616_48623del, NG_042104.1:g.48617_48623del, NG_042104.1:g.48619_48623del, NG_042104.1:g.48620_48623del, NG_042104.1:g.48621_48623del, NG_042104.1:g.48622_48623del, NG_042104.1:g.48623del, NG_042104.1:g.48623dup, NG_042104.1:g.48622_48623dup, NG_042104.1:g.48621_48623dup, NG_042104.1:g.48620_48623dup, NG_042104.1:g.48619_48623dup, NG_042104.1:g.48618_48623dup, NG_042104.1:g.48617_48623dup, NG_042104.1:g.48616_48623dup, NG_042104.1:g.48614_48623dup, NG_042104.1:g.48604_48623dup, NG_042104.1:g.48623_48624insTTTTTTTTTTTTTTTTTTTTTTT

Select item 149099498117.

rs1490994981 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:131540196 (GRCh38)
7:131224955 (GRCh37)
Canonical SPDI:: NC_000007.14:131540195:C:T
Gene:: PODXL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.131540196C>T, NC_000007.13:g.131224955C>T, NG_042104.1:g.21422G>A

Select item 149097645218.

rs1490976452 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:131554110 (GRCh38)
7:131238869 (GRCh37)
Canonical SPDI:: NC_000007.14:131554109:G:T
Gene:: PODXL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.131554110G>T, NC_000007.13:g.131238869G>T, NG_042104.1:g.7508C>A

Select item 149092338519.

rs1490923385 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:131515395 (GRCh38)
7:131200154 (GRCh37)
Canonical SPDI:: NC_000007.14:131515394:T:C
Gene:: PODXL (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.131515395T>C, NC_000007.13:g.131200154T>C, NG_042104.1:g.46223A>G

Select item 149090914320.

rs1490909143 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:131503614 (GRCh38)
7:131188373 (GRCh37)
Canonical SPDI:: NC_000007.14:131503613:C:G
Gene:: PODXL (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000007.14:g.131503614C>G, NC_000007.13:g.131188373C>G, NG_042104.1:g.58004G>C, NM_005397.4:c.*697G>C, NM_005397.3:c.*697G>C, NM_001018111.3:c.*697G>C, NM_001018111.2:c.*697G>C

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