SNP Links for Gene (Select 26024) - SNP

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Select item 14913481801.

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 14912561582.

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 14912367593.

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 14910608964.

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 14908593765.

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 14908469816.

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 14906837897.

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 14906236038.

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 14904210679.

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

Select item 149034893910.

rs1490348939 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 7:99430951 (GRCh38)
7:99028574 (GRCh37)
Canonical SPDI:: NC_000007.14:99430950:T:C,NC_000007.14:99430950:T:G
Gene:: PTCD1 (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.99430951T>C, NC_000007.14:g.99430951T>G, NC_000007.13:g.99028574T>C, NC_000007.13:g.99028574T>G, NG_042827.1:g.12889A>G, NG_042827.1:g.12889A>C

Select item 149024586311.

rs1490245863 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:99423028 (GRCh38)
7:99020651 (GRCh37)
Canonical SPDI:: NC_000007.14:99423027:G:A,NC_000007.14:99423027:G:C
Gene:: PTCD1 (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.99423028G>A, NC_000007.14:g.99423028G>C, NC_000007.13:g.99020651G>A, NC_000007.13:g.99020651G>C, NG_042827.1:g.20812C>T, NG_042827.1:g.20812C>G

Select item 148976807312.

rs1489768073 [Homo sapiens]

Variant type:: DELINS
Alleles:: CAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGT>- [Show Flanks]
Chromosome:: 7:99427137 (GRCh38)
7:99024760 (GRCh37)
Canonical SPDI:: NC_000007.14:99427102:GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGTCAGCCCCCCACCCGGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGT:GGCCAGCCGCCCCGTCCGGGAGGGAGGTGGGGGT
Gene:: PTCD1 (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000178/23 (GnomAD)
-=0.000312/2 (1000Genomes)
HGVS:: NC_000007.14:g.99427137_99427183del, NC_000007.13:g.99024760_99024806del, NG_042827.1:g.16691_16737del

Select item 148975014113.

rs1489750141 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 7:99432440 (GRCh38)
7:99030063 (GRCh37)
Canonical SPDI:: NC_000007.14:99432439:C:A
Gene:: PTCD1 (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: 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.99432440C>A, NC_000007.13:g.99030063C>A, NG_042827.1:g.11400G>T

Select item 148965423914.

rs1489654239 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:99425581 (GRCh38)
7:99023204 (GRCh37)
Canonical SPDI:: NC_000007.14:99425580:C:G,NC_000007.14:99425580:C:T
Gene:: PTCD1 (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000094/1 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.99425581C>G, NC_000007.14:g.99425581C>T, NC_000007.13:g.99023204C>G, NC_000007.13:g.99023204C>T, NG_042827.1:g.18259G>C, NG_042827.1:g.18259G>A, NM_015545.4:c.951G>C, NM_015545.4:c.951G>A, NM_015545.3:c.951G>C, NM_015545.3:c.951G>A, NM_001198879.2:c.1098G>C, NM_001198879.2:c.1098G>A, NM_001198879.1:c.1098G>C, NM_001198879.1:c.1098G>A

Select item 148961388815.

rs1489613888 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C,T [Show Flanks]
Chromosome:: 7:99431692 (GRCh38)
7:99029315 (GRCh37)
Canonical SPDI:: NC_000007.14:99431691:G:C,NC_000007.14:99431691:G:T
Gene:: PTCD1 (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000007.14:g.99431692G>C, NC_000007.14:g.99431692G>T, NC_000007.13:g.99029315G>C, NC_000007.13:g.99029315G>T, NG_042827.1:g.12148C>G, NG_042827.1:g.12148C>A

Select item 148960072416.

rs1489600724 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:99420332 (GRCh38)
7:99017955 (GRCh37)
Canonical SPDI:: NC_000007.14:99420331:G:T
Gene:: PTCD1 (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000066/1 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000223/1 (Estonian)
HGVS:: NC_000007.14:g.99420332G>T, NC_000007.13:g.99017955G>T, NG_042827.1:g.23508C>A

Select item 148957981417.

rs1489579814 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:99433799 (GRCh38)
7:99031422 (GRCh37)
Canonical SPDI:: NC_000007.14:99433798:A:T
Gene:: PTCD1 (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000021/3 (GnomAD)
T=0.000068/18 (TOPMED)
HGVS:: NC_000007.14:g.99433799A>T, NC_000007.13:g.99031422A>T, NG_042827.1:g.10041T>A

Select item 148956348818.

rs1489563488 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:99422333 (GRCh38)
7:99019956 (GRCh37)
Canonical SPDI:: NC_000007.14:99422332: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=0.000035/1 (TOMMO)
T=0.000053/14 (TOPMED)
T=0.000071/10 (GnomAD)
T=0.004673/1 (Vietnamese)
HGVS:: NC_000007.14:g.99422333C>T, NC_000007.13:g.99019956C>T, NG_042827.1:g.21507G>A

Select item 148955850619.

rs1489558506 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:99432265 (GRCh38)
7:99029888 (GRCh37)
Canonical SPDI:: NC_000007.14:99432264:T:C
Gene:: PTCD1 (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
HGVS:: NC_000007.14:g.99432265T>C, NC_000007.13:g.99029888T>C, NG_042827.1:g.11575A>G

Select item 148953306320.

rs1489533063 [Homo sapiens]

Variant type:: DELINS
Alleles:: GAAA>- [Show Flanks]
Chromosome:: 7:99421455 (GRCh38)
7:99019078 (GRCh37)
Canonical SPDI:: NC_000007.14:99421451:AAAGAAA:AAA
Gene:: PTCD1 (Varview), ATP5MF-PTCD1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAA=0.000071/1 (ALFA)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.99421455_99421458del, NC_000007.13:g.99019078_99019081del, NG_042827.1:g.22385_22388del

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