SNP Links for Protein (Select 4506613) - SNP

Links from Protein

Items: 1 to 20 of 88

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Select item 14779596281.

rs1477959628 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:6197717 (GRCh38)
1:6257777 (GRCh37)
Canonical SPDI:: NC_000001.11:6197716:C:T
Gene:: RPL22 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000001.11:g.6197717C>T, NC_000001.10:g.6257777C>T, NM_000983.4:c.52G>A, NM_000983.3:c.52G>A, NP_000974.1:p.Val18Ile

Select item 14657400602.

rs1465740060 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:6186738 (GRCh38)
1:6246798 (GRCh37)
Canonical SPDI:: NC_000001.11:6186737:T:C
Gene:: RPL22 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.6186738T>C, NC_000001.10:g.6246798T>C, NM_000983.4:c.321A>G, NM_000983.3:c.321A>G

Select item 14515829273.

rs1451582927 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:6199562 (GRCh38)
1:6259622 (GRCh37)
Canonical SPDI:: NC_000001.11:6199561:C:T
Gene:: RPL22 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000001.11:g.6199562C>T, NC_000001.10:g.6259622C>T, NM_000983.4:c.12G>A, NM_000983.3:c.12G>A

Select item 14462494104.

rs1446249410 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:6197706 (GRCh38)
1:6257766 (GRCh37)
Canonical SPDI:: NC_000001.11:6197705:G:A
Gene:: RPL22 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.6197706G>A, NC_000001.10:g.6257766G>A, NM_000983.4:c.63C>T, NM_000983.3:c.63C>T

Select item 14409011555.

rs1440901155 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 1:6192944 (GRCh38)
1:6253004 (GRCh37)
Canonical SPDI:: NC_000001.11:6192943:C:A
Gene:: RPL22 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.6192944C>A, NC_000001.10:g.6253004C>A, NM_000983.4:c.228G>T, NM_000983.3:c.228G>T

Select item 14288819936.

rs1428881993 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 1:6197652 (GRCh38)
1:6257712 (GRCh37)
Canonical SPDI:: NC_000001.11:6197651:A:C
Gene:: RPL22 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.6197652A>C, NC_000001.10:g.6257712A>C, NM_000983.4:c.117T>G, NM_000983.3:c.117T>G, NP_000974.1:p.Phe39Leu

Select item 14266050317.

rs1426605031 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:6197734 (GRCh38)
1:6257794 (GRCh37)
Canonical SPDI:: NC_000001.11:6197733:C:G
Gene:: RPL22 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.6197734C>G, NC_000001.10:g.6257794C>G, NM_000983.4:c.35G>C, NM_000983.3:c.35G>C, NP_000974.1:p.Gly12Ala

Select item 14244751168.

rs1424475116 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTTTTTT [Show Flanks]
Chromosome:: 1:6197739 (GRCh38)
1:6257800 (GRCh37)
Canonical SPDI:: NC_000001.11:6197739:TT:TTTTTTTTT
Gene:: RPL22 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by cluster
HGVS:: NC_000001.11:g.6197741_6197742insTTTTTTT, NC_000001.10:g.6257801_6257802insTTTTTTT, NM_000983.4:c.29_30insAAAAAAA, NM_000983.3:c.29_30insAAAAAAA, NP_000974.1:p.Gly11fs

Select item 14140135479.

rs1414013547 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:6193030 (GRCh38)
1:6253090 (GRCh37)
Canonical SPDI:: NC_000001.11:6193029:T:C
Gene:: RPL22 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.6193030T>C, NC_000001.10:g.6253090T>C, NM_000983.4:c.142A>G, NM_000983.3:c.142A>G, NP_000974.1:p.Lys48Glu

Select item 135967452110.

rs1359674521 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:6186735 (GRCh38)
1:6246795 (GRCh37)
Canonical SPDI:: NC_000001.11:6186734:C:T
Gene:: RPL22 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.6186735C>T, NC_000001.10:g.6246795C>T, NM_000983.4:c.324G>A, NM_000983.3:c.324G>A

Select item 135782542111.

rs1357825421 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:6192978 (GRCh38)
1:6253038 (GRCh37)
Canonical SPDI:: NC_000001.11:6192977:C:G
Gene:: RPL22 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.6192978C>G, NC_000001.10:g.6253038C>G, NM_000983.4:c.194G>C, NM_000983.3:c.194G>C, NP_000974.1:p.Arg65Thr

Select item 134182505012.

rs1341825050 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 1:6199568 (GRCh38)
1:6259628 (GRCh37)
Canonical SPDI:: NC_000001.11:6199567:A:C,NC_000001.11:6199567:A:G
Gene:: RPL22 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.6199568A>C, NC_000001.11:g.6199568A>G, NC_000001.10:g.6259628A>C, NC_000001.10:g.6259628A>G, NM_000983.4:c.6T>G, NM_000983.4:c.6T>C, NM_000983.3:c.6T>G, NM_000983.3:c.6T>C

Select item 132481254213.

rs1324812542 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTC>- [Show Flanks]
Chromosome:: 1:6186784 (GRCh38)
1:6246844 (GRCh37)
Canonical SPDI:: NC_000001.11:6186777:TTCTTCTTC:TTCTTC
Gene:: RPL22 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.6186778TTC[2], NC_000001.10:g.6246838TTC[2], NM_000983.4:c.273GAA[2], NM_000983.3:c.273GAA[2], NP_000974.1:p.Lys93del

Select item 132125510714.

rs1321255107 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:6197694 (GRCh38)
1:6257754 (GRCh37)
Canonical SPDI:: NC_000001.11:6197693:G:A
Gene:: RPL22 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000001.11:g.6197694G>A, NC_000001.10:g.6257754G>A, NM_000983.4:c.75C>T, NM_000983.3:c.75C>T

Select item 131473432615.

rs1314734326 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCT>- [Show Flanks]
Chromosome:: 1:6192977 (GRCh38)
1:6253037 (GRCh37)
Canonical SPDI:: NC_000001.11:6192974:CTCCT:CT
Gene:: RPL22 (Varview)
Functional Consequence:: inframe_deletion,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.6192977_6192979del, NC_000001.10:g.6253037_6253039del, NM_000983.4:c.195_197del, NM_000983.3:c.195_197del, NP_000974.1:p.Arg65del

Select item 131268835916.

rs1312688359 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:6199566 (GRCh38)
1:6259626 (GRCh37)
Canonical SPDI:: NC_000001.11:6199565:G:A
Gene:: RPL22 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000028/1 (ALFA)
A=0.000026/7 (TOPMED)
A=0.000028/5 (GnomAD_exomes)
A=0.000029/4 (GnomAD)
HGVS:: NC_000001.11:g.6199566G>A, NC_000001.10:g.6259626G>A, NM_000983.4:c.8C>T, NM_000983.3:c.8C>T, NP_000974.1:p.Pro3Leu

Select item 129009407717.

rs1290094077 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 1:6186695 (GRCh38)
1:6246755 (GRCh37)
Canonical SPDI:: NC_000001.11:6186694:C:G
Gene:: RPL22 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.6186695C>G, NC_000001.10:g.6246755C>G, NM_000983.4:c.364G>C, NM_000983.3:c.364G>C, NP_000974.1:p.Glu122Gln

Select item 128597551418.

rs1285975514 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 1:6197669 (GRCh38)
1:6257729 (GRCh37)
Canonical SPDI:: NC_000001.11:6197668:T:A
Gene:: RPL22 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.6197669T>A, NC_000001.10:g.6257729T>A, NM_000983.4:c.100A>T, NM_000983.3:c.100A>T, NP_000974.1:p.Met34Leu

Select item 126851529719.

rs1268515297 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 1:6186814 (GRCh38)
1:6246875 (GRCh37)
Canonical SPDI:: NC_000001.11:6186814:A:AA
Gene:: RPL22 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
HGVS:: NC_000001.11:g.6186815dup, NC_000001.10:g.6246875dup, NM_000983.4:c.244dup, NM_000983.3:c.244dup, NP_000974.1:p.Tyr82fs

Select item 126449127020.

rs1264491270 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:6186773 (GRCh38)
1:6246833 (GRCh37)
Canonical SPDI:: NC_000001.11:6186772:G:C
Gene:: RPL22 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
HGVS:: NC_000001.11:g.6186773G>C, NC_000001.10:g.6246833G>C, NM_000983.4:c.286C>G, NM_000983.3:c.286C>G, NP_000974.1:p.Leu96Val

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