SNP Links for Nucleotide (Select 341823652) - SNP

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Select item 14915731941.

rs1491573194 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>- [Show Flanks]
Chromosome:: 2:69355411 (GRCh38)
2:69582543 (GRCh37)
Canonical SPDI:: NC_000002.12:69355407:TTTTT:TTT
Gene:: GFPT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTT=0.00008/1 (ALFA)
-=0.0002/14 (GnomAD)
HGVS:: NC_000002.12:g.69355411_69355412del, NC_000002.11:g.69582543_69582544del, NG_029542.1:g.36842_36843del

Select item 14914927942.

rs1491492794 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 2:69384793 (GRCh38)
2:69611925 (GRCh37)
Canonical SPDI:: NC_000002.12:69384791:AGA:A
Gene:: GFPT1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.001602/19 (ALFA)
-=0.000851/14 (TOMMO)
-=0.001667/1 (NorthernSweden)
-=0.004775/660 (GnomAD)
-=0.007096/13 (Korea1K)
HGVS:: NC_000002.12:g.69384793_69384794del, NC_000002.11:g.69611925_69611926del, NG_029542.1:g.7458_7459del

Select item 14914918173.

rs1491491817 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 2:69361447 (GRCh38)
2:69588579 (GRCh37)
Canonical SPDI:: NC_000002.12:69361446:CA:
Gene:: GFPT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000002.12:g.69361447_69361448del, NC_000002.11:g.69588579_69588580del, NG_029542.1:g.30803_30804del

Select item 14914203654.

rs1491420365 [Homo sapiens]

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

Select item 14912596715.

rs1491259671 has merged into rs113621682 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 2:69343426 (GRCh38)
2:69570558 (GRCh37)
Canonical SPDI:: NC_000002.12:69343414:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:69343414:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:69343414:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:69343414:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:69343414:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: GFPT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTT=0.00361/55 (ALFA)
HGVS:: NC_000002.12:g.69343426_69343428del, NC_000002.12:g.69343427_69343428del, NC_000002.12:g.69343428del, NC_000002.12:g.69343428dup, NC_000002.12:g.69343427_69343428dup, NC_000002.11:g.69570558_69570560del, NC_000002.11:g.69570559_69570560del, NC_000002.11:g.69570560del, NC_000002.11:g.69570560dup, NC_000002.11:g.69570559_69570560dup, NG_029542.1:g.48834_48836del, NG_029542.1:g.48835_48836del, NG_029542.1:g.48836del, NG_029542.1:g.48836dup, NG_029542.1:g.48835_48836dup

Select item 14912081426.

rs1491208142 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:69323678 (GRCh38)
2:69550810 (GRCh37)
Canonical SPDI:: NC_000002.12:69323677:AT:
Gene:: GFPT1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.000927/11 (ALFA)
-=0.000156/1 (1000Genomes)
-=0.000743/92 (GnomAD)
HGVS:: NC_000002.12:g.69323678_69323679del, NC_000002.11:g.69550810_69550811del, NG_029542.1:g.68572_68573del, NM_002056.4:c.*2510_*2511del, NM_002056.3:c.*2510_*2511del, NM_001244710.2:c.*2510_*2511del, NM_001244710.1:c.*2510_*2511del, XM_017003802.3:c.*2510_*2511del, XM_017003801.2:c.*2510_*2511del, XM_017003801.1:c.*2510_*2511del

Select item 14911723457.

rs1491172345 has merged into rs370178312 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTT,TTTTTT [Show Flanks]
Chromosome:: 2:69323693 (GRCh38)
2:69550825 (GRCh37)
Canonical SPDI:: NC_000002.12:69323678:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000002.12:69323678:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:69323678:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:69323678:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:69323678:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000002.12:69323678:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT
Gene:: GFPT1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Clinical significance:: uncertain-significance
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTTTTT=0./0 (ALFA)
T=0.4317/259 (NorthernSweden)
HGVS:: NC_000002.12:g.69323693_69323696del, NC_000002.12:g.69323694_69323696del, NC_000002.12:g.69323695_69323696del, NC_000002.12:g.69323696del, NC_000002.12:g.69323696dup, NC_000002.12:g.69323695_69323696dup, NC_000002.11:g.69550825_69550828del, NC_000002.11:g.69550826_69550828del, NC_000002.11:g.69550827_69550828del, NC_000002.11:g.69550828del, NC_000002.11:g.69550828dup, NC_000002.11:g.69550827_69550828dup, NG_029542.1:g.68569_68572del, NG_029542.1:g.68570_68572del, NG_029542.1:g.68571_68572del, NG_029542.1:g.68572del, NG_029542.1:g.68572dup, NG_029542.1:g.68571_68572dup, NM_002056.4:c.*2507_*2510del, NM_002056.4:c.*2508_*2510del, NM_002056.4:c.*2509_*2510del, NM_002056.4:c.*2510del, NM_002056.4:c.*2510dup, NM_002056.4:c.*2509_*2510dup, NM_002056.3:c.*2507_*2510del, NM_002056.3:c.*2508_*2510del, NM_002056.3:c.*2509_*2510del, NM_002056.3:c.*2510del, NM_002056.3:c.*2510dup, NM_002056.3:c.*2509_*2510dup, NM_001244710.2:c.*2507_*2510del, NM_001244710.2:c.*2508_*2510del, NM_001244710.2:c.*2509_*2510del, NM_001244710.2:c.*2510del, NM_001244710.2:c.*2510dup, NM_001244710.2:c.*2509_*2510dup, NM_001244710.1:c.*2507_*2510del, NM_001244710.1:c.*2508_*2510del, NM_001244710.1:c.*2509_*2510del, NM_001244710.1:c.*2510del, NM_001244710.1:c.*2510dup, NM_001244710.1:c.*2509_*2510dup, XM_017003802.3:c.*2507_*2510del, XM_017003802.3:c.*2508_*2510del, XM_017003802.3:c.*2509_*2510del, XM_017003802.3:c.*2510del, XM_017003802.3:c.*2510dup, XM_017003802.3:c.*2509_*2510dup, XM_017003801.2:c.*2507_*2510del, XM_017003801.2:c.*2508_*2510del, XM_017003801.2:c.*2509_*2510del, XM_017003801.2:c.*2510del, XM_017003801.2:c.*2510dup, XM_017003801.2:c.*2509_*2510dup, XM_017003801.1:c.*2507_*2510del, XM_017003801.1:c.*2508_*2510del, XM_017003801.1:c.*2509_*2510del, XM_017003801.1:c.*2510del, XM_017003801.1:c.*2510dup, XM_017003801.1:c.*2509_*2510dup

Select item 14911449458.

rs1491144945 has merged into rs558027010 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:69361462 (GRCh38)
2:69588594 (GRCh37)
Canonical SPDI:: NC_000002.12:69361447:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:69361447:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:69361447:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:69361447:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:69361447:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:69361447:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:69361447:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:69361447:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:69361447:AAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GFPT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.4108/235 (NorthernSweden)
-=0.4726/2367 (1000Genomes)
HGVS:: NC_000002.12:g.69361462_69361468del, NC_000002.12:g.69361466_69361468del, NC_000002.12:g.69361467_69361468del, NC_000002.12:g.69361468del, NC_000002.12:g.69361468dup, NC_000002.12:g.69361467_69361468dup, NC_000002.12:g.69361466_69361468dup, NC_000002.12:g.69361465_69361468dup, NC_000002.12:g.69361464_69361468dup, NC_000002.11:g.69588594_69588600del, NC_000002.11:g.69588598_69588600del, NC_000002.11:g.69588599_69588600del, NC_000002.11:g.69588600del, NC_000002.11:g.69588600dup, NC_000002.11:g.69588599_69588600dup, NC_000002.11:g.69588598_69588600dup, NC_000002.11:g.69588597_69588600dup, NC_000002.11:g.69588596_69588600dup, NG_029542.1:g.30797_30803del, NG_029542.1:g.30801_30803del, NG_029542.1:g.30802_30803del, NG_029542.1:g.30803del, NG_029542.1:g.30803dup, NG_029542.1:g.30802_30803dup, NG_029542.1:g.30801_30803dup, NG_029542.1:g.30800_30803dup, NG_029542.1:g.30799_30803dup

Select item 14911041879.

rs1491104187 has merged into rs10602884 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 2:69344195 (GRCh38)
2:69571327 (GRCh37)
Canonical SPDI:: NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000002.12:69344186:AAAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: GFPT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
AA=0.3496/1751 (1000Genomes)
-=0.475/19 (GENOME_DK)
HGVS:: NC_000002.12:g.69344195_69344209del, NC_000002.12:g.69344197_69344209del, NC_000002.12:g.69344198_69344209del, NC_000002.12:g.69344199_69344209del, NC_000002.12:g.69344200_69344209del, NC_000002.12:g.69344201_69344209del, NC_000002.12:g.69344202_69344209del, NC_000002.12:g.69344203_69344209del, NC_000002.12:g.69344204_69344209del, NC_000002.12:g.69344205_69344209del, NC_000002.12:g.69344206_69344209del, NC_000002.12:g.69344207_69344209del, NC_000002.12:g.69344208_69344209del, NC_000002.12:g.69344209del, NC_000002.12:g.69344209dup, NC_000002.12:g.69344208_69344209dup, NC_000002.12:g.69344207_69344209dup, NC_000002.12:g.69344206_69344209dup, NC_000002.12:g.69344205_69344209dup, NC_000002.12:g.69344204_69344209dup, NC_000002.12:g.69344203_69344209dup, NC_000002.12:g.69344202_69344209dup, NC_000002.12:g.69344199_69344209dup, NC_000002.12:g.69344198_69344209dup, NC_000002.12:g.69344197_69344209dup, NC_000002.12:g.69344196_69344209dup, NC_000002.12:g.69344195_69344209dup, NC_000002.12:g.69344194_69344209dup, NC_000002.12:g.69344193_69344209dup, NC_000002.12:g.69344192_69344209dup, NC_000002.12:g.69344191_69344209dup, NC_000002.12:g.69344190_69344209dup, NC_000002.12:g.69344187_69344209dup, NC_000002.12:g.69344209_69344210insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.69344209_69344210insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.69344209_69344210insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.69344209_69344210insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.69344209_69344210insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.12:g.69344187_69344209A[23]CAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000002.11:g.69571327_69571341del, NC_000002.11:g.69571329_69571341del, NC_000002.11:g.69571330_69571341del, NC_000002.11:g.69571331_69571341del, NC_000002.11:g.69571332_69571341del, NC_000002.11:g.69571333_69571341del, NC_000002.11:g.69571334_69571341del, NC_000002.11:g.69571335_69571341del, NC_000002.11:g.69571336_69571341del, NC_000002.11:g.69571337_69571341del, NC_000002.11:g.69571338_69571341del, NC_000002.11:g.69571339_69571341del, NC_000002.11:g.69571340_69571341del, NC_000002.11:g.69571341del, NC_000002.11:g.69571341dup, NC_000002.11:g.69571340_69571341dup, NC_000002.11:g.69571339_69571341dup, NC_000002.11:g.69571338_69571341dup, NC_000002.11:g.69571337_69571341dup, NC_000002.11:g.69571336_69571341dup, NC_000002.11:g.69571335_69571341dup, NC_000002.11:g.69571334_69571341dup, NC_000002.11:g.69571331_69571341dup, NC_000002.11:g.69571330_69571341dup, NC_000002.11:g.69571329_69571341dup, NC_000002.11:g.69571328_69571341dup, NC_000002.11:g.69571327_69571341dup, NC_000002.11:g.69571326_69571341dup, NC_000002.11:g.69571325_69571341dup, NC_000002.11:g.69571324_69571341dup, NC_000002.11:g.69571323_69571341dup, NC_000002.11:g.69571322_69571341dup, NC_000002.11:g.69571319_69571341dup, NC_000002.11:g.69571341_69571342insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.69571341_69571342insAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.69571341_69571342insAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.69571341_69571342insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.69571341_69571342insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000002.11:g.69571319_69571341A[23]CAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_029542.1:g.48050_48064del, NG_029542.1:g.48052_48064del, NG_029542.1:g.48053_48064del, NG_029542.1:g.48054_48064del, NG_029542.1:g.48055_48064del, NG_029542.1:g.48056_48064del, NG_029542.1:g.48057_48064del, NG_029542.1:g.48058_48064del, NG_029542.1:g.48059_48064del, NG_029542.1:g.48060_48064del, NG_029542.1:g.48061_48064del, NG_029542.1:g.48062_48064del, NG_029542.1:g.48063_48064del, NG_029542.1:g.48064del, NG_029542.1:g.48064dup, NG_029542.1:g.48063_48064dup, NG_029542.1:g.48062_48064dup, NG_029542.1:g.48061_48064dup, NG_029542.1:g.48060_48064dup, NG_029542.1:g.48059_48064dup, NG_029542.1:g.48058_48064dup, NG_029542.1:g.48057_48064dup, NG_029542.1:g.48054_48064dup, NG_029542.1:g.48053_48064dup, NG_029542.1:g.48052_48064dup, NG_029542.1:g.48051_48064dup, NG_029542.1:g.48050_48064dup, NG_029542.1:g.48049_48064dup, NG_029542.1:g.48048_48064dup, NG_029542.1:g.48047_48064dup, NG_029542.1:g.48046_48064dup, NG_029542.1:g.48045_48064dup, NG_029542.1:g.48042_48064dup, NG_029542.1:g.48064_48065insTTTTTTTTTTTTTTTTTTTTTTTT, NG_029542.1:g.48064_48065insTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029542.1:g.48064_48065insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029542.1:g.48064_48065insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029542.1:g.48064_48065insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_029542.1:g.48042_48064T[27]GTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 149108895810.

rs1491088958 has merged into rs869273884 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 2:69385544 (GRCh38)
2:69612676 (GRCh37)
Canonical SPDI:: NC_000002.12:69385542:TAT:T
Gene:: GFPT1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00034/4 (ALFA)
-=0.00035/23 (GnomAD)
-=0.00152/22 (TOMMO)
HGVS:: NC_000002.12:g.69385544_69385545del, NC_000002.11:g.69612676_69612677del, NG_029542.1:g.6707_6708del

Select item 149106637411.

rs1491066374 has merged into rs200800795 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT [Show Flanks]
Chromosome:: 2:69381875 (GRCh38)
2:69609007 (GRCh37)
Canonical SPDI:: NC_000002.12:69381863:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000002.12:69381863:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000002.12:69381863:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000002.12:69381863:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000002.12:69381863:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000002.12:69381863:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000002.12:69381863:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000002.12:69381863:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT
Gene:: GFPT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.4305/2156 (1000Genomes)
HGVS:: NC_000002.12:g.69381875_69381877del, NC_000002.12:g.69381876_69381877del, NC_000002.12:g.69381877del, NC_000002.12:g.69381877dup, NC_000002.12:g.69381876_69381877dup, NC_000002.12:g.69381875_69381877dup, NC_000002.12:g.69381874_69381877dup, NC_000002.12:g.69381873_69381877dup, NC_000002.11:g.69609007_69609009del, NC_000002.11:g.69609008_69609009del, NC_000002.11:g.69609009del, NC_000002.11:g.69609009dup, NC_000002.11:g.69609008_69609009dup, NC_000002.11:g.69609007_69609009dup, NC_000002.11:g.69609006_69609009dup, NC_000002.11:g.69609005_69609009dup, NG_029542.1:g.10385_10387del, NG_029542.1:g.10386_10387del, NG_029542.1:g.10387del, NG_029542.1:g.10387dup, NG_029542.1:g.10386_10387dup, NG_029542.1:g.10385_10387dup, NG_029542.1:g.10384_10387dup, NG_029542.1:g.10383_10387dup

Select item 149087609612.

rs1490876096 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 2:69361443 (GRCh38)
2:69588575 (GRCh37)
Canonical SPDI:: NC_000002.12:69361442:T:C
Gene:: GFPT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.00003/3 (GnomAD)
HGVS:: NC_000002.12:g.69361443T>C, NC_000002.11:g.69588575T>C, NG_029542.1:g.30808A>G

Select item 149085729313.

rs1490857293 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:69332693 (GRCh38)
2:69559825 (GRCh37)
Canonical SPDI:: NC_000002.12:69332692:C:T
Gene:: GFPT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000002.12:g.69332693C>T, NC_000002.11:g.69559825C>T, NG_029542.1:g.59558G>A

Select item 149083507914.

rs1490835079 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:69378163 (GRCh38)
2:69605295 (GRCh37)
Canonical SPDI:: NC_000002.12:69378162:C:A
Gene:: GFPT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.69378163C>A, NC_000002.11:g.69605295C>A, NG_029542.1:g.14088G>T

Select item 149080093615.

rs1490800936 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:69391533 (GRCh38)
2:69618665 (GRCh37)
Canonical SPDI:: NC_000002.12:69391532:C:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000002.12:g.69391533C>A, NC_000002.11:g.69618665C>A, NG_029542.1:g.718G>T

Select item 149078375716.

rs1490783757 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 2:69377486 (GRCh38)
2:69604619 (GRCh37)
Canonical SPDI:: NC_000002.12:69377486:AAAAA:AAAAAA
Gene:: GFPT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAAAA=0./0 (ALFA)
HGVS:: NC_000002.12:g.69377491dup, NC_000002.11:g.69604623dup, NG_029542.1:g.14764dup

Select item 149075303417.

rs1490753034 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 2:69326921 (GRCh38)
2:69554053 (GRCh37)
Canonical SPDI:: NC_000002.12:69326920:C:A
Gene:: GFPT1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000002.12:g.69326921C>A, NC_000002.11:g.69554053C>A, NG_029542.1:g.65330G>T, NM_002056.4:c.1994G>T, NM_002056.3:c.1994G>T, NM_001244710.2:c.2048G>T, NM_001244710.1:c.2048G>T, XM_017003802.3:c.2069G>T, XM_017003802.2:c.2069G>T, XM_017003802.1:c.2069G>T, XM_017003801.2:c.2123G>T, XM_017003801.1:c.2123G>T, NP_002047.2:p.Gly665Val, NP_001231639.1:p.Gly683Val, XP_016859291.1:p.Gly690Val, XP_016859290.1:p.Gly708Val

Select item 149066677918.

rs1490666779 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 2:69378675 (GRCh38)
2:69605807 (GRCh37)
Canonical SPDI:: NC_000002.12:69378674:C:T
Gene:: GFPT1 (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_000002.12:g.69378675C>T, NC_000002.11:g.69605807C>T, NG_029542.1:g.13576G>A

Select item 149066193219.

rs1490661932 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 2:69347171 (GRCh38)
2:69574303 (GRCh37)
Canonical SPDI:: NC_000002.12:69347170:A:G
Gene:: GFPT1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000002.12:g.69347171A>G, NC_000002.11:g.69574303A>G, NG_029542.1:g.45080T>C

Select item 149065236920.

rs1490652369 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 2:69377674 (GRCh38)
2:69604806 (GRCh37)
Canonical SPDI:: NC_000002.12:69377673:A:T
Gene:: GFPT1 (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_000002.12:g.69377674A>T, NC_000002.11:g.69604806A>T, NG_029542.1:g.14577T>A

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