SNP Links for Nucleotide (Select 1147710218) - SNP

Links from Nucleotide

Items: 1 to 20 of 9767

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Select item 14915222241.

rs1491522224 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:132216006 (GRCh38)
5:131551699 (GRCh37)
Canonical SPDI:: NC_000005.10:132216005:CA:
Gene:: P4HA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00278/33 (ALFA)
HGVS:: NC_000005.10:g.132216006_132216007del, NC_000005.9:g.131551699_131551700del, NG_052887.1:g.16857_16858del

Select item 14915027392.

rs1491502739 has merged into rs1320785724 [Homo sapiens]

Variant type:: DELINS
Alleles:: GGGGGG>-,GGG,GGGG,GGGGG [Show Flanks]
Chromosome:: 5:132208420 (GRCh38)
5:131544113 (GRCh37)
Canonical SPDI:: NC_000005.10:132208418:GGGGGGG:G,NC_000005.10:132208418:GGGGGGG:GGGG,NC_000005.10:132208418:GGGGGGG:GGGGG,NC_000005.10:132208418:GGGGGGG:GGGGGG
Gene:: P4HA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGGG=0./0 (ALFA)
-=0.0005/1 (GnomAD)
G=0.4508/174 (Korea1K)
HGVS:: NC_000005.10:g.132208420_132208425del, NC_000005.10:g.132208423_132208425del, NC_000005.10:g.132208424_132208425del, NC_000005.10:g.132208425del, NC_000005.9:g.131544113_131544118del, NC_000005.9:g.131544116_131544118del, NC_000005.9:g.131544117_131544118del, NC_000005.9:g.131544118del, NG_052887.1:g.24440_24445del, NG_052887.1:g.24443_24445del, NG_052887.1:g.24444_24445del, NG_052887.1:g.24445del

Select item 14914590533.

rs1491459053 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 5:132188302 (GRCh38)
5:131523995 (GRCh37)
Canonical SPDI:: NC_000005.10:132188301:AA:
Gene:: P4HA2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: -=0.000039/5 (GnomAD)
-=0.000312/2 (1000Genomes)
HGVS:: NC_000005.10:g.132188302_132188303del, NC_000005.9:g.131523995_131523996del, NG_052887.1:g.44561_44562del

Select item 14914464374.

rs1491446437 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 5:132208419 (GRCh38)
5:131544113 (GRCh37)
Canonical SPDI:: NC_000005.10:132208419::A
Gene:: P4HA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by cluster
MAF:: A=0.0047/2 (Korea1K)
A=0.0118/69 (TOMMO)
HGVS:: NC_000005.10:g.132208419_132208420insA, NC_000005.9:g.131544112_131544113insA, NG_052887.1:g.24444_24445insT

Select item 14914205475.

rs1491420547 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:132230875 (GRCh38)
5:131566568 (GRCh37)
Canonical SPDI:: NC_000005.10:132230874:CA:
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00755/28 (TWINSUK)
-=0.00908/35 (ALSPAC)
HGVS:: NC_000005.10:g.132230875_132230876del, NC_000005.9:g.131566568_131566569del, NG_052887.1:g.1988_1989del

Select item 14914126206.

rs1491412620 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GAT [Show Flanks]
Chromosome:: 5:132188317 (GRCh38)
5:131524011 (GRCh37)
Canonical SPDI:: NC_000005.10:132188317:AT:ATGAT
Gene:: P4HA2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATGAT=0./0 (ALFA)
HGVS:: NC_000005.10:g.132188319_132188320insGAT, NC_000005.9:g.131524012_131524013insGAT, NG_052887.1:g.44546_44547insCAT

Select item 14914059887.

rs1491405988 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 5:132188318 (GRCh38)
5:131524011 (GRCh37)
Canonical SPDI:: NC_000005.10:132188316:TAT:T
Gene:: P4HA2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.132188318_132188319del, NC_000005.9:g.131524011_131524012del, NG_052887.1:g.44546_44547del

Select item 14912906088.

rs1491290608 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:132210213 (GRCh38)
5:131545906 (GRCh37)
Canonical SPDI:: NC_000005.10:132210212:CA:
Gene:: P4HA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: -=0.000135/19 (GnomAD)
HGVS:: NC_000005.10:g.132210213_132210214del, NC_000005.9:g.131545906_131545907del, NG_052887.1:g.22650_22651del

Select item 14912705789.

rs1491270578 [Homo sapiens]

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

Select item 149121449310.

rs1491214493 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:132216162 (GRCh38)
5:131551855 (GRCh37)
Canonical SPDI:: NC_000005.10:132216161:CA:
Gene:: P4HA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00011/2 (GnomAD)
HGVS:: NC_000005.10:g.132216162_132216163del, NC_000005.9:g.131551855_131551856del, NG_052887.1:g.16701_16702del

Select item 149120417911.

rs1491204179 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGAT [Show Flanks]
Chromosome:: 5:132210213 (GRCh38)
5:131545907 (GRCh37)
Canonical SPDI:: NC_000005.10:132210213:AGAT:AGATAGAT
Gene:: P4HA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGATAGAT=0./0 (ALFA)
AGAT=0.000011/3 (TOPMED)
AGAT=0.000014/2 (GnomAD)
HGVS:: NC_000005.10:g.132210214_132210217dup, NC_000005.9:g.131545907_131545910dup, NG_052887.1:g.22647_22650dup

Select item 149118848612.

rs1491188486 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TAT,TATTAT,TATTATTAT,TATTATTATTAT,TATTATTATTATTAT,TATTATTATTATTATTAT [Show Flanks]
Chromosome:: 5:132188302 (GRCh38)
5:131523996 (GRCh37)
Canonical SPDI:: NC_000005.10:132188302:AT:ATTAT,NC_000005.10:132188302:AT:ATTATTAT,NC_000005.10:132188302:AT:ATTATTATTAT,NC_000005.10:132188302:AT:ATTATTATTATTAT,NC_000005.10:132188302:AT:ATTATTATTATTATTAT,NC_000005.10:132188302:AT:ATTATTATTATTATTATTAT
Gene:: P4HA2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATTATTAT=0./0 (ALFA)
HGVS:: NC_000005.10:g.132188304_132188305insTAT, NC_000005.10:g.132188304_132188305insTATTAT, NC_000005.10:g.132188305TAT[3], NC_000005.10:g.132188305TAT[4], NC_000005.10:g.132188305TAT[5], NC_000005.10:g.132188305TAT[6], NC_000005.9:g.131523997_131523998insTAT, NC_000005.9:g.131523997_131523998insTATTAT, NC_000005.9:g.131523998TAT[3], NC_000005.9:g.131523998TAT[4], NC_000005.9:g.131523998TAT[5], NC_000005.9:g.131523998TAT[6], NG_052887.1:g.44561_44562insAAT, NG_052887.1:g.44561_44562insAATAAT, NG_052887.1:g.44562AAT[3], NG_052887.1:g.44562AAT[4], NG_052887.1:g.44562AAT[5], NG_052887.1:g.44562AAT[6]

Select item 149110433313.

rs1491104333 has merged into rs371685506 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AAA,AAAA,AAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAGAAAAAAAAGGAAATTTAAGAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:132189446 (GRCh38)
5:131525139 (GRCh37)
Canonical SPDI:: NC_000005.10:132189436:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:132189436:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:132189436:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:132189436:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:132189436:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:132189436:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:132189436:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:132189436:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:132189436:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:132189436:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:132189436:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:132189436:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:132189436:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:132189436:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:132189436:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:132189436:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:132189436:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAGAAAAAAAAGGAAATTTAAGAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: P4HA2-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.326877/1637 (1000Genomes)
-=0.4/16 (GENOME_DK)
HGVS:: NC_000005.10:g.132189446_132189454del, NC_000005.10:g.132189447_132189454del, NC_000005.10:g.132189449_132189454del, NC_000005.10:g.132189450_132189454del, NC_000005.10:g.132189451_132189454del, NC_000005.10:g.132189453_132189454del, NC_000005.10:g.132189454del, NC_000005.10:g.132189454dup, NC_000005.10:g.132189453_132189454dup, NC_000005.10:g.132189451_132189454dup, NC_000005.10:g.132189450_132189454dup, NC_000005.10:g.132189448_132189454dup, NC_000005.10:g.132189446_132189454dup, NC_000005.10:g.132189445_132189454dup, NC_000005.10:g.132189444_132189454dup, NC_000005.10:g.132189437_132189454A[27]TAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.10:g.132189437_132189454A[19]GAAAAAAAAGGAAATTTAAGAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.9:g.131525139_131525147del, NC_000005.9:g.131525140_131525147del, NC_000005.9:g.131525142_131525147del, NC_000005.9:g.131525143_131525147del, NC_000005.9:g.131525144_131525147del, NC_000005.9:g.131525146_131525147del, NC_000005.9:g.131525147del, NC_000005.9:g.131525147dup, NC_000005.9:g.131525146_131525147dup, NC_000005.9:g.131525144_131525147dup, NC_000005.9:g.131525143_131525147dup, NC_000005.9:g.131525141_131525147dup, NC_000005.9:g.131525139_131525147dup, NC_000005.9:g.131525138_131525147dup, NC_000005.9:g.131525137_131525147dup, NC_000005.9:g.131525130_131525147A[27]TAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.9:g.131525130_131525147A[19]GAAAAAAAAGGAAATTTAAGAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAAA[1], NG_052887.1:g.43419_43427del, NG_052887.1:g.43420_43427del, NG_052887.1:g.43422_43427del, NG_052887.1:g.43423_43427del, NG_052887.1:g.43424_43427del, NG_052887.1:g.43426_43427del, NG_052887.1:g.43427del, NG_052887.1:g.43427dup, NG_052887.1:g.43426_43427dup, NG_052887.1:g.43424_43427dup, NG_052887.1:g.43423_43427dup, NG_052887.1:g.43421_43427dup, NG_052887.1:g.43419_43427dup, NG_052887.1:g.43418_43427dup, NG_052887.1:g.43417_43427dup, NG_052887.1:g.43410_43427T[24]ATTTTTTTTTTTTTTTTTTTTTTTTTTT[1], NG_052887.1:g.43410_43427T[24]ATTTTTTTTTTCTTAAATTTCCTTTTTTTTCTTTTTTTTTTTTTTTTTTT[1]

Select item 149086915214.

rs1490869152 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:132221972 (GRCh38)
5:131557665 (GRCh37)
Canonical SPDI:: NC_000005.10:132221971:A:G
Gene:: P4HA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000214/3 (ALFA)
G=0.000042/11 (TOPMED)
G=0.00005/7 (GnomAD)
HGVS:: NC_000005.10:g.132221972A>G, NC_000005.9:g.131557665A>G, NG_052887.1:g.10892T>C

Select item 149082009115.

rs1490820091 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:132204205 (GRCh38)
5:131539898 (GRCh37)
Canonical SPDI:: NC_000005.10:132204204:C:A
Gene:: P4HA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.132204205C>A, NC_000005.9:g.131539898C>A, NG_052887.1:g.28659G>T

Select item 149079363116.

rs1490793631 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 5:132201183 (GRCh38)
5:131536876 (GRCh37)
Canonical SPDI:: NC_000005.10:132201182:C:A
Gene:: P4HA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000005.10:g.132201183C>A, NC_000005.9:g.131536876C>A, NG_052887.1:g.31681G>T

Select item 149069849517.

rs1490698495 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 5:132214624 (GRCh38)
5:131550317 (GRCh37)
Canonical SPDI:: NC_000005.10:132214623:T:A,NC_000005.10:132214623:T:C
Gene:: P4HA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000005.10:g.132214624T>A, NC_000005.10:g.132214624T>C, NC_000005.9:g.131550317T>A, NC_000005.9:g.131550317T>C, NG_052887.1:g.18240A>T, NG_052887.1:g.18240A>G

Select item 149065015618.

rs1490650156 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 5:132230887 (GRCh38)
5:131566580 (GRCh37)
Canonical SPDI:: NC_000005.10:132230886:A:C,NC_000005.10:132230886:A:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.132230887A>C, NC_000005.10:g.132230887A>G, NC_000005.9:g.131566580A>C, NC_000005.9:g.131566580A>G, NG_052887.1:g.1977T>G, NG_052887.1:g.1977T>C

Select item 149063537619.

rs1490635376 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 5:132229971 (GRCh38)
5:131565664 (GRCh37)
Canonical SPDI:: NC_000005.10:132229970:A:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000005.10:g.132229971A>G, NC_000005.9:g.131565664A>G, NG_052887.1:g.2893T>C

Select item 149053611120.

rs1490536111 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:132214079 (GRCh38)
5:131549772 (GRCh37)
Canonical SPDI:: NC_000005.10:132214078:G:A
Gene:: P4HA2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.132214079G>A, NC_000005.9:g.131549772G>A, NG_052887.1:g.18785C>T

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