SNP Links for Gene (Select 51504) - SNP

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Select item 14915479831.

rs1491547983 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 11:64316746 (GRCh38)
11:64084219 (GRCh37)
Canonical SPDI:: NC_000011.10:64316746:T:TT
Gene:: ESRRA (Varview), PRDX5 (Varview), TRMT112 (Varview)
Functional Consequence:: 500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000029/4 (GnomAD)
HGVS:: NC_000011.10:g.64316747dup, NC_000011.9:g.64084219dup, NM_016404.3:c.*114dup, NM_016404.2:c.*114dup, NM_016404.1:c.*114dup, NM_001286084.2:c.*260dup, NM_001286084.1:c.*260dup, NM_001286082.2:c.*114dup, NM_001286082.1:c.*114dup, XM_047427119.1:c.*114dup, XM_047427118.1:c.*114dup, NM_001372071.1:c.*114dup, NM_001372072.1:c.*114dup

Select item 14913177312.

rs1491317731 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 11:64316746 (GRCh38)
11:64084218 (GRCh37)
Canonical SPDI:: NC_000011.10:64316745:CT:
Gene:: ESRRA (Varview), PRDX5 (Varview), TRMT112 (Varview)
Functional Consequence:: 500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant,3_prime_UTR_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: -=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.64316746_64316747del, NC_000011.9:g.64084218_64084219del, NM_016404.3:c.*114_*115del, NM_016404.2:c.*114_*115del, NM_016404.1:c.*114_*115del, NM_001286084.2:c.*260_*261del, NM_001286084.1:c.*260_*261del, NM_001286082.2:c.*114_*115del, NM_001286082.1:c.*114_*115del, XM_047427119.1:c.*114_*115del, XM_047427118.1:c.*114_*115del, NM_001372071.1:c.*114_*115del, NM_001372072.1:c.*114_*115del

Select item 14906386813.

rs1490638681 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 11:64318384 (GRCh38)
11:64085856 (GRCh37)
Canonical SPDI:: NC_000011.10:64318383:AA:A
Gene:: PRDX5 (Varview), TRMT112 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant,genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.64318385del, NC_000011.9:g.64085857del, NM_012094.5:c.170del, NM_012094.4:c.170del, NM_181651.3:c.170del, NM_181651.2:c.170del, NM_181652.3:c.170del, NM_181652.2:c.170del, NM_001358511.2:c.170del, NM_001358511.1:c.170del, NM_001358516.2:c.14del, NM_001358516.1:c.14del, NP_036226.2:p.Lys57fs, NP_857634.2:p.Lys57fs, NP_857635.2:p.Lys57fs, NP_001345440.2:p.Lys57fs, NP_001345445.1:p.Lys5fs

Select item 14905879374.

rs1490587937 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:64317395 (GRCh38)
11:64084867 (GRCh37)
Canonical SPDI:: NC_000011.10:64317394:T:G
Gene:: PRDX5 (Varview), TRMT112 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: G=0.000004/1 (GnomAD_exomes)
G=0.000342/1 (KOREAN)
HGVS:: NC_000011.10:g.64317395T>G, NC_000011.9:g.64084867T>G

Select item 14901940615.

rs1490194061 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:64316906 (GRCh38)
11:64084378 (GRCh37)
Canonical SPDI:: NC_000011.10:64316905:G:A
Gene:: ESRRA (Varview), PRDX5 (Varview), TRMT112 (Varview)
Functional Consequence:: coding_sequence_variant,500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant,3_prime_UTR_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.64316906G>A, NC_000011.9:g.64084378G>A, NM_016404.3:c.333C>T, NM_016404.2:c.333C>T, NM_016404.1:c.333C>T, NM_001286084.2:c.*101C>T, NM_001286084.1:c.*101C>T, NM_001286082.2:c.318C>T, NM_001286082.1:c.318C>T, XM_047427119.1:c.333C>T, XM_047427118.1:c.333C>T, NM_001372071.1:c.333C>T, NM_001372072.1:c.333C>T

Select item 14885371926.

rs1488537192 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:64317644 (GRCh38)
11:64085116 (GRCh37)
Canonical SPDI:: NC_000011.10:64317643:C:T
Gene:: PRDX5 (Varview), TRMT112 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant
HGVS:: NC_000011.10:g.64317644C>T, NC_000011.9:g.64085116C>T, NM_016404.2:c.-118G>A, NM_001286084.1:c.-118G>A, NM_001286082.1:c.-118G>A, XM_047427119.1:c.-118G>A, XM_047427118.1:c.-118G>A, NM_001372071.1:c.-118G>A, NM_001372072.1:c.-118G>A

Select item 14876188397.

rs1487618839 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:64316179 (GRCh38)
11:64083651 (GRCh37)
Canonical SPDI:: NC_000011.10:64316178:A:G
Gene:: ESRRA (Varview), PRDX5 (Varview), TRMT112 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,downstream_transcript_variant,3_prime_UTR_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000015/4 (TOPMED)
G=0.000029/4 (GnomAD)
G=0.000312/2 (1000Genomes)
HGVS:: NC_000011.10:g.64316179A>G, NC_000011.9:g.64083651A>G, NM_004451.5:c.*213A>G, NM_004451.4:c.*213A>G, NM_004451.3:c.*213A>G, XM_017017313.2:c.*213A>G, XM_017017313.1:c.*213A>G, NM_001282450.2:c.*213A>G, NM_001282450.1:c.*213A>G, NM_001282451.2:c.*213A>G, NM_001282451.1:c.*213A>G, XM_047426524.1:c.*213A>G, XM_047426523.1:c.*213A>G

Select item 14874199528.

rs1487419952 has merged into rs374862180 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>-,CC,CCC,CCCC,CCCCCCCC,CCCCCCCCC,CCCCCCCCCCCC,CCCCCCCCCCCCC,CCCCCCCCCCCCCC,CCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC [Show Flanks]
Chromosome:: 11:64318838 (GRCh38)
11:64086310 (GRCh37)
Canonical SPDI:: NC_000011.10:64318837:CCCCCCCC:CCCCCCC,NC_000011.10:64318837:CCCCCCCC:CCCCCCCCC,NC_000011.10:64318837:CCCCCCCC:CCCCCCCCCC,NC_000011.10:64318837:CCCCCCCC:CCCCCCCCCCC,NC_000011.10:64318837:CCCCCCCC:CCCCCCCCCCCCCCC,NC_000011.10:64318837:CCCCCCCC:CCCCCCCCCCCCCCCC,NC_000011.10:64318837:CCCCCCCC:CCCCCCCCCCCCCCCCCCC,NC_000011.10:64318837:CCCCCCCC:CCCCCCCCCCCCCCCCCCCC,NC_000011.10:64318837:CCCCCCCC:CCCCCCCCCCCCCCCCCCCCC,NC_000011.10:64318837:CCCCCCCC:CCCCCCCCCCCCCCCCCCCCCC,NC_000011.10:64318837:CCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCC,NC_000011.10:64318837:CCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCC,NC_000011.10:64318837:CCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000011.10:64318837:CCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000011.10:64318837:CCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000011.10:64318837:CCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000011.10:64318837:CCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000011.10:64318837:CCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000011.10:64318837:CCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000011.10:64318837:CCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000011.10:64318837:CCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000011.10:64318837:CCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000011.10:64318837:CCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC,NC_000011.10:64318837:CCCCCCCC:CCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC
Gene:: PRDX5 (Varview), TRMT112 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCCCCCCCCCCCCCCCC=0.00006/1 (ALFA)
HGVS:: NC_000011.10:g.64318845del, NC_000011.10:g.64318845dup, NC_000011.10:g.64318844_64318845dup, NC_000011.10:g.64318843_64318845dup, NC_000011.10:g.64318839_64318845dup, NC_000011.10:g.64318838_64318845dup, NC_000011.10:g.64318845_64318846insCCCCCCCCCCC, NC_000011.10:g.64318845_64318846insCCCCCCCCCCCC, NC_000011.10:g.64318845_64318846insCCCCCCCCCCCCC, NC_000011.10:g.64318845_64318846insCCCCCCCCCCCCCC, NC_000011.10:g.64318845_64318846insCCCCCCCCCCCCCCC, NC_000011.10:g.64318845_64318846insCCCCCCCCCCCCCCCC, NC_000011.10:g.64318845_64318846insCCCCCCCCCCCCCCCCCC, NC_000011.10:g.64318845_64318846insCCCCCCCCCCCCCCCCCCC, NC_000011.10:g.64318845_64318846insCCCCCCCCCCCCCCCCCCCC, NC_000011.10:g.64318845_64318846insCCCCCCCCCCCCCCCCCCCCC, NC_000011.10:g.64318845_64318846insCCCCCCCCCCCCCCCCCCCCCC, NC_000011.10:g.64318845_64318846insCCCCCCCCCCCCCCCCCCCCCCC, NC_000011.10:g.64318845_64318846insCCCCCCCCCCCCCCCCCCCCCCCC, NC_000011.10:g.64318845_64318846insCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000011.10:g.64318845_64318846insCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000011.10:g.64318845_64318846insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000011.10:g.64318845_64318846insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000011.10:g.64318845_64318846insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000011.9:g.64086317del, NC_000011.9:g.64086317dup, NC_000011.9:g.64086316_64086317dup, NC_000011.9:g.64086315_64086317dup, NC_000011.9:g.64086311_64086317dup, NC_000011.9:g.64086310_64086317dup, NC_000011.9:g.64086317_64086318insCCCCCCCCCCC, NC_000011.9:g.64086317_64086318insCCCCCCCCCCCC, NC_000011.9:g.64086317_64086318insCCCCCCCCCCCCC, NC_000011.9:g.64086317_64086318insCCCCCCCCCCCCCC, NC_000011.9:g.64086317_64086318insCCCCCCCCCCCCCCC, NC_000011.9:g.64086317_64086318insCCCCCCCCCCCCCCCC, NC_000011.9:g.64086317_64086318insCCCCCCCCCCCCCCCCCC, NC_000011.9:g.64086317_64086318insCCCCCCCCCCCCCCCCCCC, NC_000011.9:g.64086317_64086318insCCCCCCCCCCCCCCCCCCCC, NC_000011.9:g.64086317_64086318insCCCCCCCCCCCCCCCCCCCCC, NC_000011.9:g.64086317_64086318insCCCCCCCCCCCCCCCCCCCCCC, NC_000011.9:g.64086317_64086318insCCCCCCCCCCCCCCCCCCCCCCC, NC_000011.9:g.64086317_64086318insCCCCCCCCCCCCCCCCCCCCCCCC, NC_000011.9:g.64086317_64086318insCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000011.9:g.64086317_64086318insCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000011.9:g.64086317_64086318insCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000011.9:g.64086317_64086318insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC, NC_000011.9:g.64086317_64086318insCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCCC

Select item 14861468269.

rs1486146826 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:64316829 (GRCh38)
11:64084301 (GRCh37)
Canonical SPDI:: NC_000011.10:64316828:G:A
Gene:: ESRRA (Varview), PRDX5 (Varview), TRMT112 (Varview)
Functional Consequence:: 500B_downstream_variant,2KB_upstream_variant,downstream_transcript_variant,3_prime_UTR_variant,upstream_transcript_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_000011.10:g.64316829G>A, NC_000011.9:g.64084301G>A, NM_016404.3:c.*32C>T, NM_016404.2:c.*32C>T, NM_016404.1:c.*32C>T, NM_001286084.2:c.*178C>T, NM_001286084.1:c.*178C>T, NM_001286082.2:c.*32C>T, NM_001286082.1:c.*32C>T, XM_047427119.1:c.*32C>T, XM_047427118.1:c.*32C>T, NM_001372071.1:c.*32C>T, NM_001372072.1:c.*32C>T

Select item 148545980310.

rs1485459803 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:64318261 (GRCh38)
11:64085733 (GRCh37)
Canonical SPDI:: NC_000011.10:64318260:A:G
Gene:: PRDX5 (Varview), TRMT112 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,intron_variant,missense_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000035/1 (TOMMO)
HGVS:: NC_000011.10:g.64318261A>G, NC_000011.9:g.64085733A>G, NM_012094.5:c.46A>G, NM_012094.4:c.46A>G, NM_181651.3:c.46A>G, NM_181651.2:c.46A>G, NM_181652.3:c.46A>G, NM_181652.2:c.46A>G, NM_001358511.2:c.46A>G, NM_001358511.1:c.46A>G, NM_001358516.1:c.-111A>G, NP_036226.2:p.Ile16Val, NP_857634.2:p.Ile16Val, NP_857635.2:p.Ile16Val, NP_001345440.2:p.Ile16Val

Select item 148447918311.

rs1484479183 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:64318003 (GRCh38)
11:64085475 (GRCh37)
Canonical SPDI:: NC_000011.10:64318002:G:A
Gene:: PRDX5 (Varview), TRMT112 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.64318003G>A, NC_000011.9:g.64085475G>A, NM_016404.2:c.-477C>T, NM_001286084.1:c.-477C>T, NM_001286082.1:c.-477C>T

Select item 148413082912.

rs1484130829 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:64316137 (GRCh38)
11:64083609 (GRCh37)
Canonical SPDI:: NC_000011.10:64316136:G:A,NC_000011.10:64316136:G:C
Gene:: ESRRA (Varview), PRDX5 (Varview), TRMT112 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.64316137G>A, NC_000011.10:g.64316137G>C, NC_000011.9:g.64083609G>A, NC_000011.9:g.64083609G>C, NM_004451.5:c.*171G>A, NM_004451.5:c.*171G>C, NM_004451.4:c.*171G>A, NM_004451.4:c.*171G>C, NM_004451.3:c.*171G>A, NM_004451.3:c.*171G>C, XM_017017313.2:c.*171G>A, XM_017017313.2:c.*171G>C, XM_017017313.1:c.*171G>A, XM_017017313.1:c.*171G>C, NM_001282450.2:c.*171G>A, NM_001282450.2:c.*171G>C, NM_001282450.1:c.*171G>A, NM_001282450.1:c.*171G>C, NM_001282451.2:c.*171G>A, NM_001282451.2:c.*171G>C, NM_001282451.1:c.*171G>A, NM_001282451.1:c.*171G>C, XM_047426524.1:c.*171G>A, XM_047426524.1:c.*171G>C, XM_047426523.1:c.*171G>A, XM_047426523.1:c.*171G>C

Select item 148385144413.

rs1483851444 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:64318927 (GRCh38)
11:64086399 (GRCh37)
Canonical SPDI:: NC_000011.10:64318926:G:C
Gene:: PRDX5 (Varview), TRMT112 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/1 (GnomAD)
HGVS:: NC_000011.10:g.64318927G>C, NC_000011.9:g.64086399G>C

Select item 148322021514.

rs1483220215 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 11:64318845 (GRCh38)
11:64086317 (GRCh37)
Canonical SPDI:: NC_000011.10:64318844:C:G
Gene:: PRDX5 (Varview), TRMT112 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000169/2 (ALFA)
G=0.000033/4 (GnomAD)
HGVS:: NC_000011.10:g.64318845C>G, NC_000011.9:g.64086317C>G

Select item 148277604115.

rs1482776041 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:64316752 (GRCh38)
11:64084224 (GRCh37)
Canonical SPDI:: NC_000011.10:64316751:T:C
Gene:: ESRRA (Varview), PRDX5 (Varview), TRMT112 (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.64316752T>C, NC_000011.9:g.64084224T>C, NM_016404.3:c.*109A>G, NM_016404.2:c.*109A>G, NM_016404.1:c.*109A>G, NM_001286084.2:c.*255A>G, NM_001286084.1:c.*255A>G, NM_001286082.2:c.*109A>G, NM_001286082.1:c.*109A>G, XM_047427119.1:c.*109A>G, XM_047427118.1:c.*109A>G, NM_001372071.1:c.*109A>G, NM_001372072.1:c.*109A>G

Select item 148249775016.

rs1482497750 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:64316511 (GRCh38)
11:64083983 (GRCh37)
Canonical SPDI:: NC_000011.10:64316510:C:T
Gene:: ESRRA (Varview), PRDX5 (Varview), TRMT112 (Varview)
Functional Consequence:: upstream_transcript_variant,3_prime_UTR_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.64316511C>T, NC_000011.9:g.64083983C>T, NM_004451.5:c.*545C>T, NM_004451.4:c.*545C>T, NM_004451.3:c.*545C>T, NM_016404.3:c.*350G>A, NM_016404.2:c.*350G>A, XM_017017313.2:c.*545C>T, XM_017017313.1:c.*545C>T, NM_001282450.2:c.*545C>T, NM_001282450.1:c.*545C>T, NM_001282451.2:c.*545C>T, NM_001282451.1:c.*545C>T, NM_001286084.2:c.*496G>A, NM_001286084.1:c.*496G>A, NM_001286082.2:c.*350G>A, NM_001286082.1:c.*350G>A, XM_047426524.1:c.*545C>T, XM_047426523.1:c.*545C>T, XM_047427119.1:c.*350G>A, XM_047427118.1:c.*350G>A, NM_001372071.1:c.*350G>A, NM_001372072.1:c.*350G>A

Select item 148200049117.

rs1482000491 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 11:64319904 (GRCh38)
11:64087376 (GRCh37)
Canonical SPDI:: NC_000011.10:64319903:G:C
Gene:: PRDX5 (Varview), TRMT112 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.64319904G>C, NC_000011.9:g.64087376G>C

Select item 148195263418.

rs1481952634 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:64318586 (GRCh38)
11:64086058 (GRCh37)
Canonical SPDI:: NC_000011.10:64318585:A:G
Gene:: PRDX5 (Varview), TRMT112 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0.000071/1 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.64318586A>G, NC_000011.9:g.64086058A>G, XM_047427119.1:c.-326T>C, NM_001372071.1:c.-191T>C

Select item 148113557719.

rs1481135577 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 11:64317108 (GRCh38)
11:64084580 (GRCh37)
Canonical SPDI:: NC_000011.10:64317105:ATAT:AT
Gene:: ESRRA (Varview), PRDX5 (Varview), TRMT112 (Varview)
Functional Consequence:: 2KB_upstream_variant,coding_sequence_variant,stop_gained,upstream_transcript_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: -=0.000012/3 (GnomAD_exomes)
HGVS:: NC_000011.10:g.64317106AT[1], NC_000011.9:g.64084578AT[1], NM_016404.3:c.221_222del, NM_016404.2:c.221_222del, NM_016404.1:c.221_222del, NM_001286084.2:c.221_222del, NM_001286084.1:c.221_222del, NM_001286082.2:c.206_207del, NM_001286082.1:c.206_207del, XM_047427119.1:c.221_222del, XM_047427118.1:c.221_222del, NM_001372071.1:c.221_222del, NM_001372072.1:c.221_222del, NP_057488.1:p.Gly73_Tyr74insTer, NP_001273013.1:p.Gly73_Tyr74insTer, NP_001273011.1:p.Gly68_Tyr69insTer, XP_047283075.1:p.Gly73_Tyr74insTer, XP_047283074.1:p.Gly73_Tyr74insTer, NP_001359000.1:p.Gly73_Tyr74insTer, NP_001359001.1:p.Gly73_Tyr74insTer

Select item 148108782520.

rs1481087825 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 11:64318333 (GRCh38)
11:64085805 (GRCh37)
Canonical SPDI:: NC_000011.10:64318332:T:A
Gene:: PRDX5 (Varview), TRMT112 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant,coding_sequence_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.64318333T>A, NC_000011.9:g.64085805T>A, NM_012094.5:c.118T>A, NM_012094.4:c.118T>A, NM_181651.3:c.118T>A, NM_181651.2:c.118T>A, NM_181652.3:c.118T>A, NM_181652.2:c.118T>A, NM_001358511.2:c.118T>A, NM_001358511.1:c.118T>A, NM_001358516.2:c.-39T>A, NM_001358516.1:c.-39T>A, NP_036226.2:p.Ser40Thr, NP_857634.2:p.Ser40Thr, NP_857635.2:p.Ser40Thr, NP_001345440.2:p.Ser40Thr

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