SNP Links for Gene (Select 25824) - 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 14901664816.

rs1490166481 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:64320887 (GRCh38)
11:64088359 (GRCh37)
Canonical SPDI:: NC_000011.10:64320886:C:T
Gene:: PRDX5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.64320887C>T, NC_000011.9:g.64088359C>T, NM_012094.5:c.461C>T, NM_012094.4:c.461C>T, NM_181651.3:c.329C>T, NM_181651.2:c.329C>T, NM_181652.3:c.194C>T, NM_181652.2:c.194C>T, NM_001358511.2:c.326C>T, NM_001358511.1:c.326C>T, NM_001358516.2:c.305C>T, NM_001358516.1:c.305C>T, NP_036226.2:p.Thr154Ile, NP_857634.2:p.Thr110Ile, NP_857635.2:p.Thr65Ile, NP_001345440.2:p.Thr109Ile, NP_001345445.1:p.Thr102Ile

Select item 14885600057.

rs1488560005 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:64320562 (GRCh38)
11:64088034 (GRCh37)
Canonical SPDI:: NC_000011.10:64320561:G:A
Gene:: PRDX5 (Varview), TRMT112 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000011.10:g.64320562G>A, NC_000011.9:g.64088034G>A

Select item 14885371928.

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 14876188399.

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 148741995210.

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 148614682611.

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 148593223812.

rs1485932238 [Homo sapiens]

Variant type:: DEL
Alleles:: G>- [Show Flanks]
Chromosome:: 11:64322190 (GRCh38)
11:64089662 (GRCh37)
Canonical SPDI:: NC_000011.10:64322189:G:
Gene:: PRDX5 (Varview)
Functional Consequence:: downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.64322190del, NC_000011.9:g.64089662del

Select item 148545980313.

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 148515382414.

rs1485153824 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:64320503 (GRCh38)
11:64087975 (GRCh37)
Canonical SPDI:: NC_000011.10:64320502:T:C
Gene:: PRDX5 (Varview), TRMT112 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.64320503T>C, NC_000011.9:g.64087975T>C

Select item 148512369615.

rs1485123696 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 11:64321295 (GRCh38)
11:64088767 (GRCh37)
Canonical SPDI:: NC_000011.10:64321294:A:G
Gene:: PRDX5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000011.10:g.64321295A>G, NC_000011.9:g.64088767A>G

Select item 148447918316.

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 148413082917.

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 148397741518.

rs1483977415 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:64321389 (GRCh38)
11:64088861 (GRCh37)
Canonical SPDI:: NC_000011.10:64321388:G:A,NC_000011.10:64321388:G:C
Gene:: PRDX5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000106/3 (TOMMO)
HGVS:: NC_000011.10:g.64321389G>A, NC_000011.10:g.64321389G>C, NC_000011.9:g.64088861G>A, NC_000011.9:g.64088861G>C

Select item 148385144419.

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 148367089720.

rs1483670897 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:64321176 (GRCh38)
11:64088648 (GRCh37)
Canonical SPDI:: NC_000011.10:64321175:G:A
Gene:: PRDX5 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.64321176G>A, NC_000011.9:g.64088648G>A

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