SNP Links for Gene (Select 100873948) - SNP

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Select item 14914492481.

rs1491449248 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>- [Show Flanks]
Chromosome:: 5:111946103 (GRCh38)
5:111281800 (GRCh37)
Canonical SPDI:: NC_000005.10:111946101:ATA:A
Gene:: NREP (Varview), NREP-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.00523/62 (ALFA)
-=0.00667/4 (NorthernSweden)
-=0.01086/182 (TOMMO)
-=0.0145/785 (GnomAD)
-=0.02347/43 (Korea1K)
-=0.05/2 (GENOME_DK)
HGVS:: NC_000005.10:g.111946103_111946104del, NC_000005.9:g.111281800_111281801del

Select item 14913258912.

rs1491325891 has merged into rs34120230 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCCCCCC>-,CC,CCC,CCCC,CCCCC,CCCCCC,CCCCCCCC,CCCCCCCCC [Show Flanks]
Chromosome:: 5:111919979 (GRCh38)
5:111255676 (GRCh37)
Canonical SPDI:: NC_000005.10:111919973:CCCCCCCCCCCC:CCCCC,NC_000005.10:111919973:CCCCCCCCCCCC:CCCCCCC,NC_000005.10:111919973:CCCCCCCCCCCC:CCCCCCCC,NC_000005.10:111919973:CCCCCCCCCCCC:CCCCCCCCC,NC_000005.10:111919973:CCCCCCCCCCCC:CCCCCCCCCC,NC_000005.10:111919973:CCCCCCCCCCCC:CCCCCCCCCCC,NC_000005.10:111919973:CCCCCCCCCCCC:CCCCCCCCCCCCC,NC_000005.10:111919973:CCCCCCCCCCCC:CCCCCCCCCCCCCC
Gene:: NREP (Varview), NREP-AS1 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCCCCC=0./0 (ALFA)
-=0.3017/1511 (1000Genomes)
HGVS:: NC_000005.10:g.111919979_111919985del, NC_000005.10:g.111919981_111919985del, NC_000005.10:g.111919982_111919985del, NC_000005.10:g.111919983_111919985del, NC_000005.10:g.111919984_111919985del, NC_000005.10:g.111919985del, NC_000005.10:g.111919985dup, NC_000005.10:g.111919984_111919985dup, NC_000005.9:g.111255676_111255682del, NC_000005.9:g.111255678_111255682del, NC_000005.9:g.111255679_111255682del, NC_000005.9:g.111255680_111255682del, NC_000005.9:g.111255681_111255682del, NC_000005.9:g.111255682del, NC_000005.9:g.111255682dup, NC_000005.9:g.111255681_111255682dup

Select item 14912662593.

rs1491266259 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 5:111919123 (GRCh38)
5:111254820 (GRCh37)
Canonical SPDI:: NC_000005.10:111919120:ATAT:AT
Gene:: NREP (Varview), NREP-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAT=0.000071/1 (ALFA)
-=0.00003/8 (TOPMED)
-=0.000044/6 (GnomAD)
HGVS:: NC_000005.10:g.111919121AT[1], NC_000005.9:g.111254818AT[1]

Select item 14912485924.

rs1491248592 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TACA [Show Flanks]
Chromosome:: 5:111946075 (GRCh38)
5:111281773 (GRCh37)
Canonical SPDI:: NC_000005.10:111946075:ACA:ACATACA
Gene:: NREP (Varview), NREP-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACATACA=0./0 (ALFA)
ACAT=0.000008/2 (TOPMED)
ACAT=0.000059/1 (GnomAD)
HGVS:: NC_000005.10:g.111946078_111946079insTACA, NC_000005.9:g.111281775_111281776insTACA

Select item 14911629695.

rs1491162969 [Homo sapiens]

Variant type:: DEL
Alleles:: AC>- [Show Flanks]
Chromosome:: 5:111919973 (GRCh38)
5:111255670 (GRCh37)
Canonical SPDI:: NC_000005.10:111919972:AC:
Gene:: NREP (Varview), NREP-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
HGVS:: NC_000005.10:g.111919973_111919974del, NC_000005.9:g.111255670_111255671del

Select item 14911558106.

rs1491155810 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTTTTT [Show Flanks]
Chromosome:: 5:111919121 (GRCh38)
5:111254819 (GRCh37)
Canonical SPDI:: NC_000005.10:111919121:T:TCTTTTT
Gene:: NREP (Varview), NREP-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TCTTTTT=0.00008/1 (ALFA)
HGVS:: NC_000005.10:g.111919122_111919123insCTTTTT, NC_000005.9:g.111254819_111254820insCTTTTT

Select item 14911519667.

rs1491151966 has merged into rs72097994 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACACACACACACA>-,CACA,CACACACA,CACACACACA,CACACACACACA,CACACACACACACACA,CACACACACACACACACA,CACACACACACACACACACA,CACACACACACACACACACACA,CACACACACACACACACACACACA,CACACACACACACACACACACACACA,CACACACACACACACACACACACACACA,CACACACACACACACACACACACACACACACACA [Show Flanks]
Chromosome:: 5:111946089 (GRCh38)
5:111281786 (GRCh37)
Canonical SPDI:: NC_000005.10:111946074:CACACACACACACACACACACACACACA:CACACACACACACA,NC_000005.10:111946074:CACACACACACACACACACACACACACA:CACACACACACACACACA,NC_000005.10:111946074:CACACACACACACACACACACACACACA:CACACACACACACACACACACA,NC_000005.10:111946074:CACACACACACACACACACACACACACA:CACACACACACACACACACACACA,NC_000005.10:111946074:CACACACACACACACACACACACACACA:CACACACACACACACACACACACACA,NC_000005.10:111946074:CACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACA,NC_000005.10:111946074:CACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACA,NC_000005.10:111946074:CACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACA,NC_000005.10:111946074:CACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACA,NC_000005.10:111946074:CACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACA,NC_000005.10:111946074:CACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACA,NC_000005.10:111946074:CACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACA,NC_000005.10:111946074:CACACACACACACACACACACACACACA:CACACACACACACACACACACACACACACACACACACACACACACACA
Gene:: NREP (Varview), NREP-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACACACACACACA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.111946075CA[7], NC_000005.10:g.111946075CA[9], NC_000005.10:g.111946075CA[11], NC_000005.10:g.111946075CA[12], NC_000005.10:g.111946075CA[13], NC_000005.10:g.111946075CA[15], NC_000005.10:g.111946075CA[16], NC_000005.10:g.111946075CA[17], NC_000005.10:g.111946075CA[18], NC_000005.10:g.111946075CA[19], NC_000005.10:g.111946075CA[20], NC_000005.10:g.111946075CA[21], NC_000005.10:g.111946075CA[24], NC_000005.9:g.111281772CA[7], NC_000005.9:g.111281772CA[9], NC_000005.9:g.111281772CA[11], NC_000005.9:g.111281772CA[12], NC_000005.9:g.111281772CA[13], NC_000005.9:g.111281772CA[15], NC_000005.9:g.111281772CA[16], NC_000005.9:g.111281772CA[17], NC_000005.9:g.111281772CA[18], NC_000005.9:g.111281772CA[19], NC_000005.9:g.111281772CA[20], NC_000005.9:g.111281772CA[21], NC_000005.9:g.111281772CA[24]

Select item 14911329278.

rs1491132927 has merged into rs56097143 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTTTTT>-,T,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:112008809 (GRCh38)
5:111344506 (GRCh37)
Canonical SPDI:: NC_000005.10:112008796:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:112008796:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:112008796:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:112008796:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:112008796:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:112008796:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:112008796:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:112008796:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:112008796:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:112008796:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:112008796:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:112008796:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:112008796:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:112008796:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:112008796:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:112008796:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:112008796:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:112008796:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:112008796:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:112008796:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:112008796:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:112008796:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:112008796:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:112008796:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:112008796:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:112008796:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:112008796:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:112008796:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:112008796:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:112008796:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:112008796:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:112008796:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:112008796:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:112008796:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NREP-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000005.10:g.112008809_112008828del, NC_000005.10:g.112008810_112008828del, NC_000005.10:g.112008812_112008828del, NC_000005.10:g.112008813_112008828del, NC_000005.10:g.112008814_112008828del, NC_000005.10:g.112008815_112008828del, NC_000005.10:g.112008816_112008828del, NC_000005.10:g.112008817_112008828del, NC_000005.10:g.112008818_112008828del, NC_000005.10:g.112008819_112008828del, NC_000005.10:g.112008820_112008828del, NC_000005.10:g.112008821_112008828del, NC_000005.10:g.112008822_112008828del, NC_000005.10:g.112008824_112008828del, NC_000005.10:g.112008825_112008828del, NC_000005.10:g.112008826_112008828del, NC_000005.10:g.112008827_112008828del, NC_000005.10:g.112008828del, NC_000005.10:g.112008828dup, NC_000005.10:g.112008827_112008828dup, NC_000005.10:g.112008826_112008828dup, NC_000005.10:g.112008825_112008828dup, NC_000005.10:g.112008824_112008828dup, NC_000005.10:g.112008823_112008828dup, NC_000005.10:g.112008822_112008828dup, NC_000005.10:g.112008821_112008828dup, NC_000005.10:g.112008820_112008828dup, NC_000005.10:g.112008819_112008828dup, NC_000005.10:g.112008818_112008828dup, NC_000005.10:g.112008817_112008828dup, NC_000005.10:g.112008816_112008828dup, NC_000005.10:g.112008815_112008828dup, NC_000005.10:g.112008813_112008828dup, NC_000005.10:g.112008812_112008828dup, NC_000005.9:g.111344506_111344525del, NC_000005.9:g.111344507_111344525del, NC_000005.9:g.111344509_111344525del, NC_000005.9:g.111344510_111344525del, NC_000005.9:g.111344511_111344525del, NC_000005.9:g.111344512_111344525del, NC_000005.9:g.111344513_111344525del, NC_000005.9:g.111344514_111344525del, NC_000005.9:g.111344515_111344525del, NC_000005.9:g.111344516_111344525del, NC_000005.9:g.111344517_111344525del, NC_000005.9:g.111344518_111344525del, NC_000005.9:g.111344519_111344525del, NC_000005.9:g.111344521_111344525del, NC_000005.9:g.111344522_111344525del, NC_000005.9:g.111344523_111344525del, NC_000005.9:g.111344524_111344525del, NC_000005.9:g.111344525del, NC_000005.9:g.111344525dup, NC_000005.9:g.111344524_111344525dup, NC_000005.9:g.111344523_111344525dup, NC_000005.9:g.111344522_111344525dup, NC_000005.9:g.111344521_111344525dup, NC_000005.9:g.111344520_111344525dup, NC_000005.9:g.111344519_111344525dup, NC_000005.9:g.111344518_111344525dup, NC_000005.9:g.111344517_111344525dup, NC_000005.9:g.111344516_111344525dup, NC_000005.9:g.111344515_111344525dup, NC_000005.9:g.111344514_111344525dup, NC_000005.9:g.111344513_111344525dup, NC_000005.9:g.111344512_111344525dup, NC_000005.9:g.111344510_111344525dup, NC_000005.9:g.111344509_111344525dup

Select item 14910325769.

rs1491032576 [Homo sapiens]

Variant type:: INS
Alleles:: ->CA [Show Flanks]
Chromosome:: 5:111919985 (GRCh38)
5:111255683 (GRCh37)
Canonical SPDI:: NC_000005.10:111919985::CA
Gene:: NREP (Varview), NREP-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: CA=0./0 (ALFA)
CA=0.000019/2 (GnomAD)
HGVS:: NC_000005.10:g.111919985_111919986insCA, NC_000005.9:g.111255682_111255683insCA

Select item 149101589510.

rs1491015895 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACA>-,CA,CACACA [Show Flanks]
Chromosome:: 5:111919991 (GRCh38)
5:111255688 (GRCh37)
Canonical SPDI:: NC_000005.10:111919984:CACACACACA:CACACA,NC_000005.10:111919984:CACACACACA:CACACACA,NC_000005.10:111919984:CACACACACA:CACACACACACA
Gene:: NREP (Varview), NREP-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CACACACA=0./0 (ALFA)
-=0.00004/1 (TOMMO)
HGVS:: NC_000005.10:g.111919985CA[3], NC_000005.10:g.111919985CA[4], NC_000005.10:g.111919985CA[6], NC_000005.9:g.111255682CA[3], NC_000005.9:g.111255682CA[4], NC_000005.9:g.111255682CA[6]

Select item 149098595011.

rs1490985950 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 5:112012817 (GRCh38)
5:111348515 (GRCh37)
Canonical SPDI:: NC_000005.10:112012817::C
Gene:: NREP-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.112012817_112012818insC, NC_000005.9:g.111348514_111348515insC

Select item 149097033812.

rs1490970338 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 5:111986633 (GRCh38)
5:111322330 (GRCh37)
Canonical SPDI:: NC_000005.10:111986632:T:A
Gene:: NREP-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.111986633T>A, NC_000005.9:g.111322330T>A

Select item 149096264613.

rs1490962646 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 5:112002139 (GRCh38)
5:111337836 (GRCh37)
Canonical SPDI:: NC_000005.10:112002138:A:T
Gene:: NREP-AS1 (Varview)
Functional Consequence:: intron_variant
HGVS:: NC_000005.10:g.112002139A>T, NC_000005.9:g.111337836A>T

Select item 149091412614.

rs1490914126 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:111934283 (GRCh38)
5:111269980 (GRCh37)
Canonical SPDI:: NC_000005.10:111934282:T:G
Gene:: NREP (Varview), NREP-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.111934283T>G, NC_000005.9:g.111269980T>G

Select item 149090661615.

rs1490906616 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:111938043 (GRCh38)
5:111273740 (GRCh37)
Canonical SPDI:: NC_000005.10:111938042:T:G
Gene:: NREP (Varview), NREP-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000029/4 (GnomAD)
G=0.00463/1 (Vietnamese)
HGVS:: NC_000005.10:g.111938043T>G, NC_000005.9:g.111273740T>G

Select item 149090572216.

rs1490905722 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:111982878 (GRCh38)
5:111318575 (GRCh37)
Canonical SPDI:: NC_000005.10:111982877:G:A
Gene:: NREP-AS1 (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_000005.10:g.111982878G>A, NC_000005.9:g.111318575G>A

Select item 149089121317.

rs1490891213 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 5:111920519 (GRCh38)
5:111256216 (GRCh37)
Canonical SPDI:: NC_000005.10:111920518:A:C,NC_000005.10:111920518:A:G
Gene:: NREP (Varview), NREP-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
G=0.000342/1 (KOREAN)
HGVS:: NC_000005.10:g.111920519A>C, NC_000005.10:g.111920519A>G, NC_000005.9:g.111256216A>C, NC_000005.9:g.111256216A>G

Select item 149086989818.

rs1490869898 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C [Show Flanks]
Chromosome:: 5:111970328 (GRCh38)
5:111306025 (GRCh37)
Canonical SPDI:: NC_000005.10:111970327:T:A,NC_000005.10:111970327:T:C
Gene:: NREP (Varview), NREP-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000005.10:g.111970328T>A, NC_000005.10:g.111970328T>C, NC_000005.9:g.111306025T>A, NC_000005.9:g.111306025T>C

Select item 149085770019.

rs1490857700 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 5:111982116 (GRCh38)
5:111317813 (GRCh37)
Canonical SPDI:: NC_000005.10:111982115:G:A,NC_000005.10:111982115:G:C
Gene:: NREP-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000005.10:g.111982116G>A, NC_000005.10:g.111982116G>C, NC_000005.9:g.111317813G>A, NC_000005.9:g.111317813G>C

Select item 149079939320.

rs1490799393 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:111940501 (GRCh38)
5:111276198 (GRCh37)
Canonical SPDI:: NC_000005.10:111940500:C:T
Gene:: NREP (Varview), NREP-AS1 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
HGVS:: NC_000005.10:g.111940501C>T, NC_000005.9:g.111276198C>T

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