SNP Links for Gene (Select 100526740) - SNP

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Select item 14914899081.

rs1491489908 has merged into rs752415728 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA [Show Flanks]
Chromosome:: 7:99446620 (GRCh38)
7:99044243 (GRCh37)
Canonical SPDI:: NC_000007.14:99446619:AAAAAA:AAAAA,NC_000007.14:99446619:AAAAAA:AAAAAAA
Gene:: CPSF4 (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAA=0./0 (ALFA)
-=0.001265/173 (GnomAD)
-=0.021587/362 (TOMMO)
-=0.042031/77 (Korea1K)
HGVS:: NC_000007.14:g.99446625del, NC_000007.14:g.99446625dup, NC_000007.13:g.99044248del, NC_000007.13:g.99044248dup

Select item 14914658122.

rs1491465812 [Homo sapiens]

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

Select item 14913842703.

rs1491384270 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:99442676 (GRCh38)
7:99040299 (GRCh37)
Canonical SPDI:: NC_000007.14:99442674:ACA:A
Gene:: CPSF4 (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000022/3 (GnomAD)
-=0.000072/1 (TOMMO)
HGVS:: NC_000007.14:g.99442676_99442677del, NC_000007.13:g.99040299_99040300del, NG_009520.3:g.934_935del, NG_042827.1:g.1164_1165del

Select item 14913481804.

rs1491348180 has merged into rs1195402168 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTT>-,TT,TTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 7:99440681 (GRCh38)
7:99038304 (GRCh37)
Canonical SPDI:: NC_000007.14:99440674:TTTTTTTTTTTTTTTTTTT:TTTTTT,NC_000007.14:99440674:TTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000007.14:99440674:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000007.14:99440674:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000007.14:99440674:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000007.14:99440674:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000007.14:99440674:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000007.14:99440674:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000007.14:99440674:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000007.14:99440674:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000007.14:99440674:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000007.14:99440674:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000007.14:99440674:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:99440674:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:99440674:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:99440674:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:99440674:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:99440674:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:99440674:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:99440674:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:99440674:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:99440674:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:99440674:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000007.14:99440674:TTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: CPSF4 (Varview), PTCD1 (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
-=0.12259/3333 (TOMMO)
HGVS:: NC_000007.14:g.99440681_99440693del, NC_000007.14:g.99440683_99440693del, NC_000007.14:g.99440685_99440693del, NC_000007.14:g.99440687_99440693del, NC_000007.14:g.99440688_99440693del, NC_000007.14:g.99440689_99440693del, NC_000007.14:g.99440690_99440693del, NC_000007.14:g.99440691_99440693del, NC_000007.14:g.99440692_99440693del, NC_000007.14:g.99440693del, NC_000007.14:g.99440693dup, NC_000007.14:g.99440692_99440693dup, NC_000007.14:g.99440691_99440693dup, NC_000007.14:g.99440690_99440693dup, NC_000007.14:g.99440689_99440693dup, NC_000007.14:g.99440688_99440693dup, NC_000007.14:g.99440687_99440693dup, NC_000007.14:g.99440686_99440693dup, NC_000007.14:g.99440685_99440693dup, NC_000007.14:g.99440684_99440693dup, NC_000007.14:g.99440683_99440693dup, NC_000007.14:g.99440682_99440693dup, NC_000007.14:g.99440681_99440693dup, NC_000007.14:g.99440680_99440693dup, NC_000007.13:g.99038304_99038316del, NC_000007.13:g.99038306_99038316del, NC_000007.13:g.99038308_99038316del, NC_000007.13:g.99038310_99038316del, NC_000007.13:g.99038311_99038316del, NC_000007.13:g.99038312_99038316del, NC_000007.13:g.99038313_99038316del, NC_000007.13:g.99038314_99038316del, NC_000007.13:g.99038315_99038316del, NC_000007.13:g.99038316del, NC_000007.13:g.99038316dup, NC_000007.13:g.99038315_99038316dup, NC_000007.13:g.99038314_99038316dup, NC_000007.13:g.99038313_99038316dup, NC_000007.13:g.99038312_99038316dup, NC_000007.13:g.99038311_99038316dup, NC_000007.13:g.99038310_99038316dup, NC_000007.13:g.99038309_99038316dup, NC_000007.13:g.99038308_99038316dup, NC_000007.13:g.99038307_99038316dup, NC_000007.13:g.99038306_99038316dup, NC_000007.13:g.99038305_99038316dup, NC_000007.13:g.99038304_99038316dup, NC_000007.13:g.99038303_99038316dup, NG_042827.1:g.3153_3165del, NG_042827.1:g.3155_3165del, NG_042827.1:g.3157_3165del, NG_042827.1:g.3159_3165del, NG_042827.1:g.3160_3165del, NG_042827.1:g.3161_3165del, NG_042827.1:g.3162_3165del, NG_042827.1:g.3163_3165del, NG_042827.1:g.3164_3165del, NG_042827.1:g.3165del, NG_042827.1:g.3165dup, NG_042827.1:g.3164_3165dup, NG_042827.1:g.3163_3165dup, NG_042827.1:g.3162_3165dup, NG_042827.1:g.3161_3165dup, NG_042827.1:g.3160_3165dup, NG_042827.1:g.3159_3165dup, NG_042827.1:g.3158_3165dup, NG_042827.1:g.3157_3165dup, NG_042827.1:g.3156_3165dup, NG_042827.1:g.3155_3165dup, NG_042827.1:g.3154_3165dup, NG_042827.1:g.3153_3165dup, NG_042827.1:g.3152_3165dup

Select item 14913043505.

rs1491304350 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 7:99442675 (GRCh38)
7:99040299 (GRCh37)
Canonical SPDI:: NC_000007.14:99442675:C:CC
Gene:: CPSF4 (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.99442676dup, NC_000007.13:g.99040299dup, NG_009520.3:g.934dup, NG_042827.1:g.1164dup

Select item 14912561586.

rs1491256158 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 7:99437323 (GRCh38)
7:99034947 (GRCh37)
Canonical SPDI:: NC_000007.14:99437323:C:CC
Gene:: CPSF4 (Varview), PTCD1 (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000007.14:g.99437324dup, NC_000007.13:g.99034947dup, NG_042827.1:g.6516dup

Select item 14912367597.

rs1491236759 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATA,ATATATATATATATATA,ATATATATATATATATATA,ATATATATATATATATATATA,ATATATATATATATATATATATA,ATATATATATATATATATATATATA,ATATATATATATATATATATATATATA,ATATATATATATATATATATATATATATA,ATATATATATATATATATATATATATATATA,ATATATATATATATATATATATATATATATATATA,ATATATATATATATATATATATATATATATATATATATATG,ATATATATATATATATATATATATATATATATATATATG,ATATATATATATATATATATATATATATATG,ATATATATATATATATATATATATATATG,ATATATATATATATATATATATATATG,ATATATATATATATATATATATATG,ATATATATATATATATATATATATTTG,ATATATATATATATATATATATG,ATATATATATATATATATATG,ATATATATATATATATATG,ATATATATATATATATG,ATATATATATATATG,ATATATATATATG,ATATATATATG,ATATATATG,ATATATG,ATATG,ATG,ATGTTTTTTTTTTG,GTA [Show Flanks]
Chromosome:: 7:99440675 (GRCh38)
7:99038299 (GRCh37)
Canonical SPDI:: NC_000007.14:99440675::A,NC_000007.14:99440675::ATA,NC_000007.14:99440675::ATATA,NC_000007.14:99440675::ATATATA,NC_000007.14:99440675::ATATATATA,NC_000007.14:99440675::ATATATATATA,NC_000007.14:99440675::ATATATATATATA,NC_000007.14:99440675::ATATATATATATATA,NC_000007.14:99440675::ATATATATATATATATA,NC_000007.14:99440675::ATATATATATATATATATA,NC_000007.14:99440675::ATATATATATATATATATATA,NC_000007.14:99440675::ATATATATATATATATATATATA,NC_000007.14:99440675::ATATATATATATATATATATATATA,NC_000007.14:99440675::ATATATATATATATATATATATATATA,NC_000007.14:99440675::ATATATATATATATATATATATATATATA,NC_000007.14:99440675::ATATATATATATATATATATATATATATATA,NC_000007.14:99440675::ATATATATATATATATATATATATATATATATATA,NC_000007.14:99440675::ATATATATATATATATATATATATATATATATATATATATG,NC_000007.14:99440675::ATATATATATATATATATATATATATATATATATATATG,NC_000007.14:99440675::ATATATATATATATATATATATATATATATG,NC_000007.14:99440675::ATATATATATATATATATATATATATATG,NC_000007.14:99440675::ATATATATATATATATATATATATATG,NC_000007.14:99440675::ATATATATATATATATATATATATG,NC_000007.14:99440675::ATATATATATATATATATATATATTTG,NC_000007.14:99440675::ATATATATATATATATATATATG,NC_000007.14:99440675::ATATATATATATATATATATG,NC_000007.14:99440675::ATATATATATATATATATG,NC_000007.14:99440675::ATATATATATATATATG,NC_000007.14:99440675::ATATATATATATATG,NC_000007.14:99440675::ATATATATATATG,NC_000007.14:99440675::ATATATATATG,NC_000007.14:99440675::ATATATATG,NC_000007.14:99440675::ATATATG,NC_000007.14:99440675::ATATG,NC_000007.14:99440675::ATG,NC_000007.14:99440675::ATGTTTTTTTTTTG,NC_000007.14:99440675::GTA
Gene:: CPSF4 (Varview), PTCD1 (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
GTA=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.99440675_99440676insA, NC_000007.14:g.99440675_99440676insATA, NC_000007.14:g.99440675_99440676insATATA, NC_000007.14:g.99440675_99440676insATATATA, NC_000007.14:g.99440675_99440676insATATATATA, NC_000007.14:g.99440675_99440676insATATATATATA, NC_000007.14:g.99440675_99440676insATATATATATATA, NC_000007.14:g.99440675_99440676insATATATATATATATA, NC_000007.14:g.99440675_99440676insATATATATATATATATA, NC_000007.14:g.99440675_99440676insATATATATATATATATATA, NC_000007.14:g.99440675_99440676insATATATATATATATATATATA, NC_000007.14:g.99440675_99440676insATATATATATATATATATATATA, NC_000007.14:g.99440675_99440676insATATATATATATATATATATATATA, NC_000007.14:g.99440675_99440676insATATATATATATATATATATATATATA, NC_000007.14:g.99440675_99440676insATATATATATATATATATATATATATATA, NC_000007.14:g.99440675_99440676insATATATATATATATATATATATATATATATA, NC_000007.14:g.99440675_99440676insATATATATATATATATATATATATATATATATATA, NC_000007.14:g.99440675_99440676insATATATATATATATATATATATATATATATATATATATATG, NC_000007.14:g.99440675_99440676insATATATATATATATATATATATATATATATATATATATG, NC_000007.14:g.99440675_99440676insATATATATATATATATATATATATATATATG, NC_000007.14:g.99440675_99440676insATATATATATATATATATATATATATATG, NC_000007.14:g.99440675_99440676insATATATATATATATATATATATATATG, NC_000007.14:g.99440675_99440676insATATATATATATATATATATATATG, NC_000007.14:g.99440675_99440676insATATATATATATATATATATATATTTG, NC_000007.14:g.99440675_99440676insATATATATATATATATATATATG, NC_000007.14:g.99440675_99440676insATATATATATATATATATATG, NC_000007.14:g.99440675_99440676insATATATATATATATATATG, NC_000007.14:g.99440675_99440676insATATATATATATATATG, NC_000007.14:g.99440675_99440676insATATATATATATATG, NC_000007.14:g.99440675_99440676insATATATATATATG, NC_000007.14:g.99440675_99440676insATATATATATG, NC_000007.14:g.99440675_99440676insATATATATG, NC_000007.14:g.99440675_99440676insATATATG, NC_000007.14:g.99440675_99440676insATATG, NC_000007.14:g.99440675_99440676insATG, NC_000007.14:g.99440675_99440676insATGTTTTTTTTTTG, NC_000007.14:g.99440675_99440676insGTA, NC_000007.13:g.99038298_99038299insA, NC_000007.13:g.99038298_99038299insATA, NC_000007.13:g.99038298_99038299insATATA, NC_000007.13:g.99038298_99038299insATATATA, NC_000007.13:g.99038298_99038299insATATATATA, NC_000007.13:g.99038298_99038299insATATATATATA, NC_000007.13:g.99038298_99038299insATATATATATATA, NC_000007.13:g.99038298_99038299insATATATATATATATA, NC_000007.13:g.99038298_99038299insATATATATATATATATA, NC_000007.13:g.99038298_99038299insATATATATATATATATATA, NC_000007.13:g.99038298_99038299insATATATATATATATATATATA, NC_000007.13:g.99038298_99038299insATATATATATATATATATATATA, NC_000007.13:g.99038298_99038299insATATATATATATATATATATATATA, NC_000007.13:g.99038298_99038299insATATATATATATATATATATATATATA, NC_000007.13:g.99038298_99038299insATATATATATATATATATATATATATATA, NC_000007.13:g.99038298_99038299insATATATATATATATATATATATATATATATA, NC_000007.13:g.99038298_99038299insATATATATATATATATATATATATATATATATATA, NC_000007.13:g.99038298_99038299insATATATATATATATATATATATATATATATATATATATATG, NC_000007.13:g.99038298_99038299insATATATATATATATATATATATATATATATATATATATG, NC_000007.13:g.99038298_99038299insATATATATATATATATATATATATATATATG, NC_000007.13:g.99038298_99038299insATATATATATATATATATATATATATATG, NC_000007.13:g.99038298_99038299insATATATATATATATATATATATATATG, NC_000007.13:g.99038298_99038299insATATATATATATATATATATATATG, NC_000007.13:g.99038298_99038299insATATATATATATATATATATATATTTG, NC_000007.13:g.99038298_99038299insATATATATATATATATATATATG, NC_000007.13:g.99038298_99038299insATATATATATATATATATATG, NC_000007.13:g.99038298_99038299insATATATATATATATATATG, NC_000007.13:g.99038298_99038299insATATATATATATATATG, NC_000007.13:g.99038298_99038299insATATATATATATATG, NC_000007.13:g.99038298_99038299insATATATATATATG, NC_000007.13:g.99038298_99038299insATATATATATG, NC_000007.13:g.99038298_99038299insATATATATG, NC_000007.13:g.99038298_99038299insATATATG, NC_000007.13:g.99038298_99038299insATATG, NC_000007.13:g.99038298_99038299insATG, NC_000007.13:g.99038298_99038299insATGTTTTTTTTTTG, NC_000007.13:g.99038298_99038299insGTA, NG_042827.1:g.3164_3165insT, NG_042827.1:g.3164_3165insTAT, NG_042827.1:g.3164_3165insTATAT, NG_042827.1:g.3164_3165insTATATAT, NG_042827.1:g.3164_3165insTATATATAT, NG_042827.1:g.3164_3165insTATATATATAT, NG_042827.1:g.3164_3165insTATATATATATAT, NG_042827.1:g.3164_3165insTATATATATATATAT, NG_042827.1:g.3164_3165insTATATATATATATATAT, NG_042827.1:g.3164_3165insTATATATATATATATATAT, NG_042827.1:g.3164_3165insTATATATATATATATATATAT, NG_042827.1:g.3164_3165insTATATATATATATATATATATAT, NG_042827.1:g.3164_3165insTATATATATATATATATATATATAT, NG_042827.1:g.3164_3165insTATATATATATATATATATATATATAT, NG_042827.1:g.3164_3165insTATATATATATATATATATATATATATAT, NG_042827.1:g.3164_3165insTATATATATATATATATATATATATATATAT, NG_042827.1:g.3164_3165insTATATATATATATATATATATATATATATATATAT, NG_042827.1:g.3164_3165insCATATATATATATATATATATATATATATATATATATATAT, NG_042827.1:g.3164_3165insCATATATATATATATATATATATATATATATATATATAT, NG_042827.1:g.3164_3165insCATATATATATATATATATATATATATATAT, NG_042827.1:g.3164_3165insCATATATATATATATATATATATATATAT, NG_042827.1:g.3164_3165insCATATATATATATATATATATATATAT, NG_042827.1:g.3164_3165insCATATATATATATATATATATATAT, NG_042827.1:g.3164_3165insCAAATATATATATATATATATATATAT, NG_042827.1:g.3164_3165insCATATATATATATATATATATAT, NG_042827.1:g.3164_3165insCATATATATATATATATATAT, NG_042827.1:g.3164_3165insCATATATATATATATATAT, NG_042827.1:g.3164_3165insCATATATATATATATAT, NG_042827.1:g.3164_3165insCATATATATATATAT, NG_042827.1:g.3164_3165insCATATATATATAT, NG_042827.1:g.3164_3165insCATATATATAT, NG_042827.1:g.3164_3165insCATATATAT, NG_042827.1:g.3164_3165insCATATAT, NG_042827.1:g.3164_3165insCATAT, NG_042827.1:g.3164_3165insCAT, NG_042827.1:g.3164_3165insCAAAAAAAAAACAT, NG_042827.1:g.3164_3165insTAC

Select item 14910608968.

rs1491060896 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:99435601 (GRCh38)
7:99033224 (GRCh37)
Canonical SPDI:: NC_000007.14:99435600:CA:
Gene:: PTCD1 (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00268/12 (ALFA)
-=0.00028/8 (TOMMO)
-=0.0029/13 (Estonian)
HGVS:: NC_000007.14:g.99435601_99435602del, NC_000007.13:g.99033224_99033225del, NG_042827.1:g.8238_8239del

Select item 14909957159.

rs1490995715 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCACTCAACTC>- [Show Flanks]
Chromosome:: 7:99458813 (GRCh38)
7:99056436 (GRCh37)
Canonical SPDI:: NC_000007.14:99458810:TCCCACTCAACTC:TC
Gene:: ATP5MF (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TC=0./0 (ALFA)
-=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.99458813_99458823del, NC_000007.13:g.99056436_99056446del

Select item 149095705210.

rs1490957052 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:99445227 (GRCh38)
7:99042850 (GRCh37)
Canonical SPDI:: NC_000007.14:99445226:G:A
Gene:: CPSF4 (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000007.14:g.99445227G>A, NC_000007.13:g.99042850G>A

Select item 149085937611.

rs1490859376 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:99420782 (GRCh38)
7:99018405 (GRCh37)
Canonical SPDI:: NC_000007.14:99420781:C:T
Gene:: PTCD1 (Varview), ATP5MF-PTCD1 (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_000007.14:g.99420782C>T, NC_000007.13:g.99018405C>T, NG_042827.1:g.23058G>A

Select item 149084698112.

rs1490846981 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:99432031 (GRCh38)
7:99029654 (GRCh37)
Canonical SPDI:: NC_000007.14:99432030:CA:
Gene:: PTCD1 (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000071/1 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.99432031_99432032del, NC_000007.13:g.99029654_99029655del, NG_042827.1:g.11808_11809del

Select item 149075344113.

rs1490753441 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:99452399 (GRCh38)
7:99050022 (GRCh37)
Canonical SPDI:: NC_000007.14:99452398:G:A
Gene:: CPSF4 (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,genic_downstream_transcript_variant,missense_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_000007.14:g.99452399G>A, NC_000007.13:g.99050022G>A, XM_011515755.4:c.544G>A, XM_011515755.3:c.544G>A, XM_011515755.2:c.544G>A, XM_011515755.1:c.544G>A, NM_006693.4:c.529G>A, NM_006693.3:c.529G>A, NM_006693.2:c.529G>A, XM_011515756.4:c.544G>A, XM_011515756.3:c.544G>A, XM_011515756.2:c.544G>A, XM_011515756.1:c.544G>A, XM_011515757.3:c.544G>A, XM_011515757.2:c.544G>A, XM_011515757.1:c.544G>A, NM_001081559.3:c.529G>A, NM_001081559.2:c.529G>A, NM_001081559.1:c.529G>A, XM_017011703.3:c.385G>A, XM_017011703.2:c.385G>A, XM_017011703.1:c.385G>A, NM_001318160.2:c.529G>A, NM_001318160.1:c.529G>A, NM_001318162.2:c.370G>A, NM_001318162.1:c.370G>A, NM_001318161.2:c.435G>A, NM_001318161.1:c.435G>A, XM_047419824.1:c.385G>A, XM_047419825.1:c.370G>A, XM_047419826.1:c.370G>A, XP_011514057.1:p.Glu182Lys, NP_006684.1:p.Glu177Lys, XP_011514058.1:p.Glu182Lys, XP_011514059.1:p.Glu182Lys, NP_001075028.1:p.Glu177Lys, XP_016867192.1:p.Glu129Lys, NP_001305089.1:p.Glu177Lys, NP_001305091.1:p.Glu124Lys, XP_047275780.1:p.Glu129Lys, XP_047275781.1:p.Glu124Lys, XP_047275782.1:p.Glu124Lys

Select item 149074010014.

rs1490740100 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:99464974 (GRCh38)
7:99062597 (GRCh37)
Canonical SPDI:: NC_000007.14:99464973:G:A
Gene:: ATP5MF (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000142/2 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000035/1 (TOMMO)
HGVS:: NC_000007.14:g.99464974G>A, NC_000007.13:g.99062597G>A

Select item 149069720615.

rs1490697206 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:99451336 (GRCh38)
7:99048959 (GRCh37)
Canonical SPDI:: NC_000007.14:99451335:G:A
Gene:: CPSF4 (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: genic_downstream_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_000007.14:g.99451336G>A, NC_000007.13:g.99048959G>A

Select item 149068378916.

rs1490683789 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:99421750 (GRCh38)
7:99019373 (GRCh37)
Canonical SPDI:: NC_000007.14:99421749:A:G
Gene:: PTCD1 (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.99421750A>G, NC_000007.13:g.99019373A>G, NG_042827.1:g.22090T>C

Select item 149062360317.

rs1490623603 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:99420400 (GRCh38)
7:99018023 (GRCh37)
Canonical SPDI:: NC_000007.14:99420399:C:T
Gene:: PTCD1 (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.99420400C>T, NC_000007.13:g.99018023C>T, NG_042827.1:g.23440G>A

Select item 149058789318.

rs1490587893 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:99452790 (GRCh38)
7:99050413 (GRCh37)
Canonical SPDI:: NC_000007.14:99452789:C:T
Gene:: CPSF4 (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,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_000007.14:g.99452790C>T, NC_000007.13:g.99050413C>T

Select item 149056001219.

rs1490560012 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:99466280 (GRCh38)
7:99063903 (GRCh37)
Canonical SPDI:: NC_000007.14:99466279:A:G
Gene:: ATP5MF (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.99466280A>G, NC_000007.13:g.99063903A>G

Select item 149042106720.

rs1490421067 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 7:99426672 (GRCh38)
7:99024295 (GRCh37)
Canonical SPDI:: NC_000007.14:99426671:G:C
Gene:: PTCD1 (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000022/3 (GnomAD)
HGVS:: NC_000007.14:g.99426672G>C, NC_000007.13:g.99024295G>C, NG_042827.1:g.17168C>G

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