SNP Links for Gene (Select 5033) - SNP

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Select item 14915872311.

rs1491587231 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 10:73070143 (GRCh38)
10:74829902 (GRCh37)
Canonical SPDI:: NC_000010.11:73070143::C
Gene:: P4HA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: C=0.00062/11 (TOMMO)
HGVS:: NC_000010.11:g.73070143_73070144insC, NC_000010.10:g.74829901_74829902insC

Select item 14915788482.

rs1491578848 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 10:73017172 (GRCh38)
10:74776931 (GRCh37)
Canonical SPDI:: NC_000010.11:73017172:A:ACA
Gene:: P4HA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACA=0./0 (ALFA)
HGVS:: NC_000010.11:g.73017173_73017174insCA, NC_000010.10:g.74776931_74776932insCA

Select item 14915701233.

rs1491570123 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:73071192 (GRCh38)
10:74830950 (GRCh37)
Canonical SPDI:: NC_000010.11:73071191:CA:
Gene:: P4HA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.73071192_73071193del, NC_000010.10:g.74830950_74830951del

Select item 14915511664.

rs1491551166 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 10:73039854 (GRCh38)
10:74799612 (GRCh37)
Canonical SPDI:: NC_000010.11:73039853:CT:
Gene:: P4HA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.73039854_73039855del, NC_000010.10:g.74799612_74799613del

Select item 14915363265.

rs1491536326 has merged into rs549704773 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAA>-,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:73050176 (GRCh38)
10:74809934 (GRCh37)
Canonical SPDI:: NC_000010.11:73050165:AAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000010.11:73050165:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:73050165:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:73050165:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:73050165:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:73050165:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:73050165:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:73050165:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:73050165:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:73050165:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA
Gene:: P4HA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAA=0./0 (ALFA)
-=0.20168/1010 (1000Genomes)
HGVS:: NC_000010.11:g.73050176_73050182del, NC_000010.11:g.73050178_73050182del, NC_000010.11:g.73050179_73050182del, NC_000010.11:g.73050180_73050182del, NC_000010.11:g.73050181_73050182del, NC_000010.11:g.73050182del, NC_000010.11:g.73050182dup, NC_000010.11:g.73050181_73050182dup, NC_000010.11:g.73050180_73050182dup, NC_000010.11:g.73050178_73050182dup, NC_000010.10:g.74809934_74809940del, NC_000010.10:g.74809936_74809940del, NC_000010.10:g.74809937_74809940del, NC_000010.10:g.74809938_74809940del, NC_000010.10:g.74809939_74809940del, NC_000010.10:g.74809940del, NC_000010.10:g.74809940dup, NC_000010.10:g.74809939_74809940dup, NC_000010.10:g.74809938_74809940dup, NC_000010.10:g.74809936_74809940dup

Select item 14915174626.

rs1491517462 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 10:73087286 (GRCh38)
10:74847044 (GRCh37)
Canonical SPDI:: NC_000010.11:73087285:TG:
Gene:: P4HA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.001349/16 (ALFA)
-=0.000165/22 (GnomAD)
-=0.002732/5 (Korea1K)
HGVS:: NC_000010.11:g.73087286_73087287del, NC_000010.10:g.74847044_74847045del

Select item 14915136357.

rs1491513635 has merged into rs770821126 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 10:73078612 (GRCh38)
10:74838370 (GRCh37)
Canonical SPDI:: NC_000010.11:73078600:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000010.11:73078600:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:73078600:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:73078600:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:73078600:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:73078600:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:73078600:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:73078600:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:73078600:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:73078600:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:73078600:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:73078600:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:73078600:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:73078600:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:73078600:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:73078600:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:73078600:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:73078600:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:73078600:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:73078600:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:73078600:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:73078600:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:73078600:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:73078600:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:73078600:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:73078600:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: P4HA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
T=0.475/19 (GENOME_DK)
HGVS:: NC_000010.11:g.73078612_73078628del, NC_000010.11:g.73078613_73078628del, NC_000010.11:g.73078614_73078628del, NC_000010.11:g.73078615_73078628del, NC_000010.11:g.73078616_73078628del, NC_000010.11:g.73078617_73078628del, NC_000010.11:g.73078618_73078628del, NC_000010.11:g.73078619_73078628del, NC_000010.11:g.73078620_73078628del, NC_000010.11:g.73078621_73078628del, NC_000010.11:g.73078622_73078628del, NC_000010.11:g.73078623_73078628del, NC_000010.11:g.73078624_73078628del, NC_000010.11:g.73078625_73078628del, NC_000010.11:g.73078626_73078628del, NC_000010.11:g.73078627_73078628del, NC_000010.11:g.73078628del, NC_000010.11:g.73078628dup, NC_000010.11:g.73078627_73078628dup, NC_000010.11:g.73078626_73078628dup, NC_000010.11:g.73078625_73078628dup, NC_000010.11:g.73078624_73078628dup, NC_000010.11:g.73078623_73078628dup, NC_000010.11:g.73078622_73078628dup, NC_000010.11:g.73078621_73078628dup, NC_000010.11:g.73078620_73078628dup, NC_000010.10:g.74838370_74838386del, NC_000010.10:g.74838371_74838386del, NC_000010.10:g.74838372_74838386del, NC_000010.10:g.74838373_74838386del, NC_000010.10:g.74838374_74838386del, NC_000010.10:g.74838375_74838386del, NC_000010.10:g.74838376_74838386del, NC_000010.10:g.74838377_74838386del, NC_000010.10:g.74838378_74838386del, NC_000010.10:g.74838379_74838386del, NC_000010.10:g.74838380_74838386del, NC_000010.10:g.74838381_74838386del, NC_000010.10:g.74838382_74838386del, NC_000010.10:g.74838383_74838386del, NC_000010.10:g.74838384_74838386del, NC_000010.10:g.74838385_74838386del, NC_000010.10:g.74838386del, NC_000010.10:g.74838386dup, NC_000010.10:g.74838385_74838386dup, NC_000010.10:g.74838384_74838386dup, NC_000010.10:g.74838383_74838386dup, NC_000010.10:g.74838382_74838386dup, NC_000010.10:g.74838381_74838386dup, NC_000010.10:g.74838380_74838386dup, NC_000010.10:g.74838379_74838386dup, NC_000010.10:g.74838378_74838386dup

Select item 14914725078.

rs1491472507 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 10:73029641 (GRCh38)
10:74789399 (GRCh37)
Canonical SPDI:: NC_000010.11:73029640:AG:
Gene:: P4HA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.00006/8 (GnomAD)
HGVS:: NC_000010.11:g.73029641_73029642del, NC_000010.10:g.74789399_74789400del

Select item 14914705099.

rs1491470509 [Homo sapiens]

Variant type:: DEL
Alleles:: TG>- [Show Flanks]
Chromosome:: 10:73058794 (GRCh38)
10:74818552 (GRCh37)
Canonical SPDI:: NC_000010.11:73058793:TG:
Gene:: P4HA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00556/66 (ALFA)
-=0.00361/60 (TOMMO)
-=0.00768/14 (Korea1K)
HGVS:: NC_000010.11:g.73058794_73058795del, NC_000010.10:g.74818552_74818553del

Select item 149144521010.

rs1491445210 has merged into rs941596383 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA [Show Flanks]
Chromosome:: 10:73017176 (GRCh38)
10:74776934 (GRCh37)
Canonical SPDI:: NC_000010.11:73017171:TATATATA:TATA,NC_000010.11:73017171:TATATATA:TATATA
Gene:: P4HA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATA=0./0 (ALFA)
HGVS:: NC_000010.11:g.73017172TA[2], NC_000010.11:g.73017172TA[3], NC_000010.10:g.74776930TA[2], NC_000010.10:g.74776930TA[3]

Select item 149144064111.

rs1491440641 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 10:73050165 (GRCh38)
10:74809923 (GRCh37)
Canonical SPDI:: NC_000010.11:73050164:CA:
Gene:: P4HA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.73050165_73050166del, NC_000010.10:g.74809923_74809924del

Select item 149140879512.

rs1491408795 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 10:73052190 (GRCh38)
10:74811948 (GRCh37)
Canonical SPDI:: NC_000010.11:73052189:GA:
Gene:: P4HA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.000071/1 (ALFA)
-=0.000052/7 (GnomAD)
HGVS:: NC_000010.11:g.73052190_73052191del, NC_000010.10:g.74811948_74811949del

Select item 149137548013.

rs1491375480 has merged into rs3066045 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAATTAATAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 10:73019740 (GRCh38)
10:74779498 (GRCh37)
Canonical SPDI:: NC_000010.11:73019730:AAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000010.11:73019730:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000010.11:73019730:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:73019730:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:73019730:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:73019730:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000010.11:73019730:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000010.11:73019730:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000010.11:73019730:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000010.11:73019730:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000010.11:73019730:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:73019730:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:73019730:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:73019730:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:73019730:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:73019730:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:73019730:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:73019730:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:73019730:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:73019730:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:73019730:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:73019730:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:73019730:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:73019730:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:73019730:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:73019730:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAACAAAAAAAAAAAAAAAAAAA,NC_000010.11:73019730:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAATTAATAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000010.11:73019730:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAA
Gene:: P4HA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000010.11:g.73019740_73019747del, NC_000010.11:g.73019743_73019747del, NC_000010.11:g.73019744_73019747del, NC_000010.11:g.73019745_73019747del, NC_000010.11:g.73019746_73019747del, NC_000010.11:g.73019747del, NC_000010.11:g.73019747dup, NC_000010.11:g.73019746_73019747dup, NC_000010.11:g.73019745_73019747dup, NC_000010.11:g.73019744_73019747dup, NC_000010.11:g.73019743_73019747dup, NC_000010.11:g.73019742_73019747dup, NC_000010.11:g.73019741_73019747dup, NC_000010.11:g.73019740_73019747dup, NC_000010.11:g.73019739_73019747dup, NC_000010.11:g.73019738_73019747dup, NC_000010.11:g.73019737_73019747dup, NC_000010.11:g.73019736_73019747dup, NC_000010.11:g.73019735_73019747dup, NC_000010.11:g.73019734_73019747dup, NC_000010.11:g.73019733_73019747dup, NC_000010.11:g.73019732_73019747dup, NC_000010.11:g.73019747_73019748insAAAAAAAAAAAAAAAAAA, NC_000010.11:g.73019747_73019748insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.73019747_73019748insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.11:g.73019731_73019747A[34]CAAAAAAAAAAAAAAAAAAA[1], NC_000010.11:g.73019731_73019747A[32]TTAATAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000010.11:g.73019731_73019747A[29]TAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000010.10:g.74779498_74779505del, NC_000010.10:g.74779501_74779505del, NC_000010.10:g.74779502_74779505del, NC_000010.10:g.74779503_74779505del, NC_000010.10:g.74779504_74779505del, NC_000010.10:g.74779505del, NC_000010.10:g.74779505dup, NC_000010.10:g.74779504_74779505dup, NC_000010.10:g.74779503_74779505dup, NC_000010.10:g.74779502_74779505dup, NC_000010.10:g.74779501_74779505dup, NC_000010.10:g.74779500_74779505dup, NC_000010.10:g.74779499_74779505dup, NC_000010.10:g.74779498_74779505dup, NC_000010.10:g.74779497_74779505dup, NC_000010.10:g.74779496_74779505dup, NC_000010.10:g.74779495_74779505dup, NC_000010.10:g.74779494_74779505dup, NC_000010.10:g.74779493_74779505dup, NC_000010.10:g.74779492_74779505dup, NC_000010.10:g.74779491_74779505dup, NC_000010.10:g.74779490_74779505dup, NC_000010.10:g.74779505_74779506insAAAAAAAAAAAAAAAAAA, NC_000010.10:g.74779505_74779506insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.74779505_74779506insAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000010.10:g.74779489_74779505A[34]CAAAAAAAAAAAAAAAAAAA[1], NC_000010.10:g.74779489_74779505A[32]TTAATAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000010.10:g.74779489_74779505A[29]TAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 149136296414.

rs1491362964 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATATATATATATA,ATATATATATATATATA,ATATATATATATATATATA,ATATTTA [Show Flanks]
Chromosome:: 10:73037572 (GRCh38)
10:74797331 (GRCh37)
Canonical SPDI:: NC_000010.11:73037572::A,NC_000010.11:73037572::AA,NC_000010.11:73037572::ATA,NC_000010.11:73037572::ATATA,NC_000010.11:73037572::ATATATA,NC_000010.11:73037572::ATATATATA,NC_000010.11:73037572::ATATATATATA,NC_000010.11:73037572::ATATATATATATA,NC_000010.11:73037572::ATATATATATATATA,NC_000010.11:73037572::ATATATATATATATATA,NC_000010.11:73037572::ATATATATATATATATATA,NC_000010.11:73037572::ATATTTA
Gene:: P4HA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
A=0.00719/6 (Korea1K)
HGVS:: NC_000010.11:g.73037572_73037573insA, NC_000010.11:g.73037572_73037573insAA, NC_000010.11:g.73037572_73037573insATA, NC_000010.11:g.73037572_73037573insATATA, NC_000010.11:g.73037572_73037573insATATATA, NC_000010.11:g.73037572_73037573insATATATATA, NC_000010.11:g.73037572_73037573insATATATATATA, NC_000010.11:g.73037572_73037573insATATATATATATA, NC_000010.11:g.73037572_73037573insATATATATATATATA, NC_000010.11:g.73037572_73037573insATATATATATATATATA, NC_000010.11:g.73037572_73037573insATATATATATATATATATA, NC_000010.11:g.73037572_73037573insATATTTA, NC_000010.10:g.74797330_74797331insA, NC_000010.10:g.74797330_74797331insAA, NC_000010.10:g.74797330_74797331insATA, NC_000010.10:g.74797330_74797331insATATA, NC_000010.10:g.74797330_74797331insATATATA, NC_000010.10:g.74797330_74797331insATATATATA, NC_000010.10:g.74797330_74797331insATATATATATA, NC_000010.10:g.74797330_74797331insATATATATATATA, NC_000010.10:g.74797330_74797331insATATATATATATATA, NC_000010.10:g.74797330_74797331insATATATATATATATATA, NC_000010.10:g.74797330_74797331insATATATATATATATATATA, NC_000010.10:g.74797330_74797331insATATTTA

Select item 149135568115.

rs1491355681 has merged into rs536039460 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A,AA,AAAA,AAAAA [Show Flanks]
Chromosome:: 10:73057074 (GRCh38)
10:74816832 (GRCh37)
Canonical SPDI:: NC_000010.11:73057060:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000010.11:73057060:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000010.11:73057060:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000010.11:73057060:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000010.11:73057060:AAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA
Gene:: P4HA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
-=0.00554/3 (NorthernSweden)
-=0.16414/822 (1000Genomes)
HGVS:: NC_000010.11:g.73057074_73057076del, NC_000010.11:g.73057075_73057076del, NC_000010.11:g.73057076del, NC_000010.11:g.73057076dup, NC_000010.11:g.73057075_73057076dup, NC_000010.10:g.74816832_74816834del, NC_000010.10:g.74816833_74816834del, NC_000010.10:g.74816834del, NC_000010.10:g.74816834dup, NC_000010.10:g.74816833_74816834dup

Select item 149132974716.

rs1491329747 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 10:73057060 (GRCh38)
10:74816818 (GRCh37)
Canonical SPDI:: NC_000010.11:73057059:GA:
Gene:: P4HA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000010.11:g.73057060_73057061del, NC_000010.10:g.74816818_74816819del

Select item 149131303617.

rs1491313036 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTA [Show Flanks]
Chromosome:: 10:73087286 (GRCh38)
10:74847045 (GRCh37)
Canonical SPDI:: NC_000010.11:73087286::TTA
Gene:: P4HA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TTA=0.0002/1 (ALFA)
HGVS:: NC_000010.11:g.73087286_73087287insTTA, NC_000010.10:g.74847044_74847045insTTA

Select item 149130008418.

rs1491300084 [Homo sapiens]

Variant type:: INS
Alleles:: ->TTTTTTTA [Show Flanks]
Chromosome:: 10:73058794 (GRCh38)
10:74818553 (GRCh37)
Canonical SPDI:: NC_000010.11:73058794::TTTTTTTA
Gene:: P4HA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: TTTTTTTA=0.000008/1 (GnomAD)
HGVS:: NC_000010.11:g.73058794_73058795insTTTTTTTA, NC_000010.10:g.74818552_74818553insTTTTTTTA

Select item 149126548619.

rs1491265486 has merged into rs71021546 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTTTTTTT>-,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 10:73070151 (GRCh38)
10:74829909 (GRCh37)
Canonical SPDI:: NC_000010.11:73070142:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000010.11:73070142:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000010.11:73070142:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000010.11:73070142:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000010.11:73070142:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000010.11:73070142:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000010.11:73070142:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000010.11:73070142:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000010.11:73070142:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000010.11:73070142:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000010.11:73070142:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000010.11:73070142:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:73070142:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:73070142:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:73070142:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:73070142:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:73070142:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:73070142:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:73070142:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:73070142:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:73070142:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:73070142:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:73070142:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:73070142:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:73070142:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:73070142:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:73070142:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:73070142:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:73070142:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:73070142:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:73070142:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:73070142:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:73070142:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:73070142:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:73070142:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:73070142:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:73070142:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:73070142:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:73070142:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:73070142:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000010.11:73070142:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: P4HA1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.000019/5 (TOPMED)
HGVS:: NC_000010.11:g.73070151_73070175del, NC_000010.11:g.73070155_73070175del, NC_000010.11:g.73070156_73070175del, NC_000010.11:g.73070157_73070175del, NC_000010.11:g.73070158_73070175del, NC_000010.11:g.73070159_73070175del, NC_000010.11:g.73070160_73070175del, NC_000010.11:g.73070161_73070175del, NC_000010.11:g.73070162_73070175del, NC_000010.11:g.73070163_73070175del, NC_000010.11:g.73070164_73070175del, NC_000010.11:g.73070165_73070175del, NC_000010.11:g.73070166_73070175del, NC_000010.11:g.73070167_73070175del, NC_000010.11:g.73070168_73070175del, NC_000010.11:g.73070169_73070175del, NC_000010.11:g.73070170_73070175del, NC_000010.11:g.73070171_73070175del, NC_000010.11:g.73070172_73070175del, NC_000010.11:g.73070173_73070175del, NC_000010.11:g.73070174_73070175del, NC_000010.11:g.73070175del, NC_000010.11:g.73070175dup, NC_000010.11:g.73070174_73070175dup, NC_000010.11:g.73070173_73070175dup, NC_000010.11:g.73070172_73070175dup, NC_000010.11:g.73070171_73070175dup, NC_000010.11:g.73070170_73070175dup, NC_000010.11:g.73070169_73070175dup, NC_000010.11:g.73070168_73070175dup, NC_000010.11:g.73070167_73070175dup, NC_000010.11:g.73070166_73070175dup, NC_000010.11:g.73070165_73070175dup, NC_000010.11:g.73070164_73070175dup, NC_000010.11:g.73070163_73070175dup, NC_000010.11:g.73070162_73070175dup, NC_000010.11:g.73070161_73070175dup, NC_000010.11:g.73070160_73070175dup, NC_000010.11:g.73070159_73070175dup, NC_000010.11:g.73070158_73070175dup, NC_000010.11:g.73070157_73070175dup, NC_000010.10:g.74829909_74829933del, NC_000010.10:g.74829913_74829933del, NC_000010.10:g.74829914_74829933del, NC_000010.10:g.74829915_74829933del, NC_000010.10:g.74829916_74829933del, NC_000010.10:g.74829917_74829933del, NC_000010.10:g.74829918_74829933del, NC_000010.10:g.74829919_74829933del, NC_000010.10:g.74829920_74829933del, NC_000010.10:g.74829921_74829933del, NC_000010.10:g.74829922_74829933del, NC_000010.10:g.74829923_74829933del, NC_000010.10:g.74829924_74829933del, NC_000010.10:g.74829925_74829933del, NC_000010.10:g.74829926_74829933del, NC_000010.10:g.74829927_74829933del, NC_000010.10:g.74829928_74829933del, NC_000010.10:g.74829929_74829933del, NC_000010.10:g.74829930_74829933del, NC_000010.10:g.74829931_74829933del, NC_000010.10:g.74829932_74829933del, NC_000010.10:g.74829933del, NC_000010.10:g.74829933dup, NC_000010.10:g.74829932_74829933dup, NC_000010.10:g.74829931_74829933dup, NC_000010.10:g.74829930_74829933dup, NC_000010.10:g.74829929_74829933dup, NC_000010.10:g.74829928_74829933dup, NC_000010.10:g.74829927_74829933dup, NC_000010.10:g.74829926_74829933dup, NC_000010.10:g.74829925_74829933dup, NC_000010.10:g.74829924_74829933dup, NC_000010.10:g.74829923_74829933dup, NC_000010.10:g.74829922_74829933dup, NC_000010.10:g.74829921_74829933dup, NC_000010.10:g.74829920_74829933dup, NC_000010.10:g.74829919_74829933dup, NC_000010.10:g.74829918_74829933dup, NC_000010.10:g.74829917_74829933dup, NC_000010.10:g.74829916_74829933dup, NC_000010.10:g.74829915_74829933dup

Select item 149125785520.

rs1491257855 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 10:73078601 (GRCh38)
10:74838360 (GRCh37)
Canonical SPDI:: NC_000010.11:73078601::C
Gene:: P4HA1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000010.11:g.73078601_73078602insC, NC_000010.10:g.74838359_74838360insC

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