SNP Links for Protein (Select 768025415) - SNP

Links from Protein

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Select item 14894752961.

rs1489475296 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:41274666 (GRCh38)
22:41670670 (GRCh37)
Canonical SPDI:: NC_000022.11:41274665:G:A
Gene:: RANGAP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.41274666G>A, NC_000022.10:g.41670670G>A, XM_006724289.5:c.174C>T, XM_006724289.4:c.174C>T, XM_006724289.3:c.174C>T, XM_006724289.2:c.174C>T, XM_006724289.1:c.174C>T, NM_002883.4:c.174C>T, NM_002883.3:c.174C>T, XM_017028895.3:c.174C>T, XM_017028895.2:c.174C>T, XM_017028895.1:c.174C>T, XM_017028893.3:c.174C>T, XM_017028893.2:c.174C>T, XM_017028893.1:c.174C>T, XM_017028897.2:c.174C>T, XM_017028897.1:c.174C>T, NM_001278651.2:c.174C>T, NM_001278651.1:c.174C>T, XM_005261695.2:c.339C>T, XM_005261695.1:c.339C>T, NM_001317930.2:c.174C>T, NM_001317930.1:c.174C>T, XM_005261696.2:c.297C>T, XM_005261696.1:c.297C>T, XM_011530297.2:c.339C>T, XM_011530297.1:c.339C>T, XM_047441452.1:c.174C>T, XM_047441453.1:c.75C>T

Select item 14875555842.

rs1487555584 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:41281000 (GRCh38)
22:41677004 (GRCh37)
Canonical SPDI:: NC_000022.11:41280999:C:T
Gene:: RANGAP1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
HGVS:: NC_000022.11:g.41281000C>T, NC_000022.10:g.41677004C>T, XM_006724289.5:c.45G>A, XM_006724289.4:c.45G>A, XM_006724289.3:c.45G>A, XM_006724289.2:c.45G>A, XM_006724289.1:c.45G>A, NM_002883.4:c.45G>A, NM_002883.3:c.45G>A, XM_017028895.3:c.45G>A, XM_017028895.2:c.45G>A, XM_017028895.1:c.45G>A, XM_017028893.3:c.45G>A, XM_017028893.2:c.45G>A, XM_017028893.1:c.45G>A, XM_017028897.2:c.45G>A, XM_017028897.1:c.45G>A, NM_001278651.2:c.45G>A, NM_001278651.1:c.45G>A, XM_005261695.2:c.210G>A, XM_005261695.1:c.210G>A, NM_001317930.2:c.45G>A, NM_001317930.1:c.45G>A, XM_005261696.2:c.168G>A, XM_005261696.1:c.168G>A, XM_011530297.2:c.210G>A, XM_011530297.1:c.210G>A, XM_047441452.1:c.45G>A

Select item 14845618473.

rs1484561847 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:41258020 (GRCh38)
22:41654024 (GRCh37)
Canonical SPDI:: NC_000022.11:41258019:G:T
Gene:: RANGAP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000087/2 (ALFA)
T=0.000011/3 (TOPMED)
T=0.000012/3 (GnomAD_exomes)
T=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.41258020G>T, NC_000022.10:g.41654024G>T, XM_006724289.5:c.702C>A, XM_006724289.4:c.702C>A, XM_006724289.3:c.702C>A, XM_006724289.2:c.702C>A, XM_006724289.1:c.702C>A, NM_002883.4:c.702C>A, NM_002883.3:c.702C>A, XM_017028895.3:c.702C>A, XM_017028895.2:c.702C>A, XM_017028895.1:c.702C>A, XM_017028893.3:c.702C>A, XM_017028893.2:c.702C>A, XM_017028893.1:c.702C>A, XM_017028897.2:c.702C>A, XM_017028897.1:c.702C>A, NM_001278651.2:c.702C>A, NM_001278651.1:c.702C>A, XM_005261695.2:c.867C>A, XM_005261695.1:c.867C>A, NM_001317930.2:c.702C>A, NM_001317930.1:c.702C>A, XM_005261696.2:c.825C>A, XM_005261696.1:c.825C>A, XM_011530297.2:c.867C>A, XM_011530297.1:c.867C>A, XM_047441452.1:c.702C>A, XM_047441453.1:c.603C>A

Select item 14807247774.

rs1480724777 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 22:41285646 (GRCh38)
22:41681650 (GRCh37)
Canonical SPDI:: NC_000022.11:41285645:T:A,NC_000022.11:41285645:T:C,NC_000022.11:41285645:T:G
Gene:: RANGAP1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,upstream_transcript_variant,missense_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
HGVS:: NC_000022.11:g.41285646T>A, NC_000022.11:g.41285646T>C, NC_000022.11:g.41285646T>G, NC_000022.10:g.41681650T>A, NC_000022.10:g.41681650T>C, NC_000022.10:g.41681650T>G, XM_017028895.3:c.-452A>T, XM_017028895.3:c.-452A>G, XM_017028895.3:c.-452A>C, XM_017028895.2:c.-452A>T, XM_017028895.2:c.-452A>G, XM_017028895.2:c.-452A>C, XM_017028895.1:c.-452A>T, XM_017028895.1:c.-452A>G, XM_017028895.1:c.-452A>C, NM_001278651.2:c.-394A>T, NM_001278651.2:c.-394A>G, NM_001278651.2:c.-394A>C, NM_001278651.1:c.-394A>T, NM_001278651.1:c.-394A>G, NM_001278651.1:c.-394A>C, XM_005261695.2:c.25A>T, XM_005261695.2:c.25A>G, XM_005261695.2:c.25A>C, XM_005261695.1:c.25A>T, XM_005261695.1:c.25A>G, XM_005261695.1:c.25A>C, XM_011530297.2:c.25A>T, XM_011530297.2:c.25A>G, XM_011530297.2:c.25A>C, XM_011530297.1:c.25A>T, XM_011530297.1:c.25A>G, XM_011530297.1:c.25A>C, XP_005261752.1:p.Ile9Phe, XP_005261752.1:p.Ile9Val, XP_005261752.1:p.Ile9Leu, XP_011528599.1:p.Ile9Phe, XP_011528599.1:p.Ile9Val, XP_011528599.1:p.Ile9Leu

Select item 14794843535.

rs1479484353 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:41264705 (GRCh38)
22:41660709 (GRCh37)
Canonical SPDI:: NC_000022.11:41264704:G:T
Gene:: RANGAP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000022.11:g.41264705G>T, NC_000022.10:g.41660709G>T, XM_006724289.5:c.439C>A, XM_006724289.4:c.439C>A, XM_006724289.3:c.439C>A, XM_006724289.2:c.439C>A, XM_006724289.1:c.439C>A, NM_002883.4:c.439C>A, NM_002883.3:c.439C>A, XM_017028895.3:c.439C>A, XM_017028895.2:c.439C>A, XM_017028895.1:c.439C>A, XM_017028893.3:c.439C>A, XM_017028893.2:c.439C>A, XM_017028893.1:c.439C>A, XM_017028897.2:c.439C>A, XM_017028897.1:c.439C>A, NM_001278651.2:c.439C>A, NM_001278651.1:c.439C>A, XM_005261695.2:c.604C>A, XM_005261695.1:c.604C>A, NM_001317930.2:c.439C>A, NM_001317930.1:c.439C>A, XM_005261696.2:c.562C>A, XM_005261696.1:c.562C>A, XM_011530297.2:c.604C>A, XM_011530297.1:c.604C>A, XM_047441452.1:c.439C>A, XM_047441453.1:c.340C>A, XP_006724352.1:p.Leu147Ile, NP_002874.1:p.Leu147Ile, XP_016884384.1:p.Leu147Ile, XP_016884382.1:p.Leu147Ile, XP_016884386.1:p.Leu147Ile, NP_001265580.1:p.Leu147Ile, XP_005261752.1:p.Leu202Ile, NP_001304859.1:p.Leu147Ile, XP_005261753.1:p.Leu188Ile, XP_011528599.1:p.Leu202Ile, XP_047297408.1:p.Leu147Ile, XP_047297409.1:p.Leu114Ile

Select item 14762720306.

rs1476272030 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 22:41257959 (GRCh38)
22:41653963 (GRCh37)
Canonical SPDI:: NC_000022.11:41257958:C:A
Gene:: RANGAP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000022.11:g.41257959C>A, NC_000022.10:g.41653963C>A, XM_006724289.5:c.763G>T, XM_006724289.4:c.763G>T, XM_006724289.3:c.763G>T, XM_006724289.2:c.763G>T, XM_006724289.1:c.763G>T, NM_002883.4:c.763G>T, NM_002883.3:c.763G>T, XM_017028895.3:c.763G>T, XM_017028895.2:c.763G>T, XM_017028895.1:c.763G>T, XM_017028893.3:c.763G>T, XM_017028893.2:c.763G>T, XM_017028893.1:c.763G>T, XM_017028897.2:c.763G>T, XM_017028897.1:c.763G>T, NM_001278651.2:c.763G>T, NM_001278651.1:c.763G>T, XM_005261695.2:c.928G>T, XM_005261695.1:c.928G>T, NM_001317930.2:c.763G>T, NM_001317930.1:c.763G>T, XM_005261696.2:c.886G>T, XM_005261696.1:c.886G>T, XM_011530297.2:c.928G>T, XM_011530297.1:c.928G>T, XM_047441452.1:c.763G>T, XM_047441453.1:c.664G>T, XP_006724352.1:p.Ala255Ser, NP_002874.1:p.Ala255Ser, XP_016884384.1:p.Ala255Ser, XP_016884382.1:p.Ala255Ser, XP_016884386.1:p.Ala255Ser, NP_001265580.1:p.Ala255Ser, XP_005261752.1:p.Ala310Ser, NP_001304859.1:p.Ala255Ser, XP_005261753.1:p.Ala296Ser, XP_011528599.1:p.Ala310Ser, XP_047297408.1:p.Ala255Ser, XP_047297409.1:p.Ala222Ser

Select item 14753465707.

rs1475346570 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:41274677 (GRCh38)
22:41670681 (GRCh37)
Canonical SPDI:: NC_000022.11:41274676:G:A
Gene:: RANGAP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000043/1 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.41274677G>A, NC_000022.10:g.41670681G>A, XM_006724289.5:c.163C>T, XM_006724289.4:c.163C>T, XM_006724289.3:c.163C>T, XM_006724289.2:c.163C>T, XM_006724289.1:c.163C>T, NM_002883.4:c.163C>T, NM_002883.3:c.163C>T, XM_017028895.3:c.163C>T, XM_017028895.2:c.163C>T, XM_017028895.1:c.163C>T, XM_017028893.3:c.163C>T, XM_017028893.2:c.163C>T, XM_017028893.1:c.163C>T, XM_017028897.2:c.163C>T, XM_017028897.1:c.163C>T, NM_001278651.2:c.163C>T, NM_001278651.1:c.163C>T, XM_005261695.2:c.328C>T, XM_005261695.1:c.328C>T, NM_001317930.2:c.163C>T, NM_001317930.1:c.163C>T, XM_005261696.2:c.286C>T, XM_005261696.1:c.286C>T, XM_011530297.2:c.328C>T, XM_011530297.1:c.328C>T, XM_047441452.1:c.163C>T, XM_047441453.1:c.64C>T, XP_006724352.1:p.Arg55Cys, NP_002874.1:p.Arg55Cys, XP_016884384.1:p.Arg55Cys, XP_016884382.1:p.Arg55Cys, XP_016884386.1:p.Arg55Cys, NP_001265580.1:p.Arg55Cys, XP_005261752.1:p.Arg110Cys, NP_001304859.1:p.Arg55Cys, XP_005261753.1:p.Arg96Cys, XP_011528599.1:p.Arg110Cys, XP_047297408.1:p.Arg55Cys, XP_047297409.1:p.Arg22Cys

Select item 14730024728.

rs1473002472 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:41256054 (GRCh38)
22:41652058 (GRCh37)
Canonical SPDI:: NC_000022.11:41256053:C:T
Gene:: RANGAP1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.41256054C>T, NC_000022.10:g.41652058C>T, XM_006724289.5:c.1040G>A, XM_006724289.4:c.1040G>A, XM_006724289.3:c.1040G>A, XM_006724289.2:c.1040G>A, XM_006724289.1:c.1040G>A, NM_002883.4:c.1040G>A, NM_002883.3:c.1040G>A, XM_017028895.3:c.1040G>A, XM_017028895.2:c.1040G>A, XM_017028895.1:c.1040G>A, XM_017028893.3:c.1040G>A, XM_017028893.2:c.1040G>A, XM_017028893.1:c.1040G>A, XM_017028897.2:c.1040G>A, XM_017028897.1:c.1040G>A, NM_001278651.2:c.1040G>A, NM_001278651.1:c.1040G>A, XM_005261695.2:c.1205G>A, XM_005261695.1:c.1205G>A, NM_001317930.2:c.1040G>A, NM_001317930.1:c.1040G>A, XM_005261696.2:c.1163G>A, XM_005261696.1:c.1163G>A, XM_011530297.2:c.1205G>A, XM_011530297.1:c.1205G>A, XM_047441452.1:c.1040G>A, XM_047441453.1:c.941G>A, XP_006724352.1:p.Gly347Asp, NP_002874.1:p.Gly347Asp, XP_016884384.1:p.Gly347Asp, XP_016884382.1:p.Gly347Asp, XP_016884386.1:p.Gly347Asp, NP_001265580.1:p.Gly347Asp, XP_005261752.1:p.Gly402Asp, NP_001304859.1:p.Gly347Asp, XP_005261753.1:p.Gly388Asp, XP_011528599.1:p.Gly402Asp, XP_047297408.1:p.Gly347Asp, XP_047297409.1:p.Gly314Asp

Select item 14666083549.

rs1466608354 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 22:41256276 (GRCh38)
22:41652280 (GRCh37)
Canonical SPDI:: NC_000022.11:41256275:T:C
Gene:: RANGAP1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.41256276T>C, NC_000022.10:g.41652280T>C, XM_006724289.5:c.903A>G, XM_006724289.4:c.903A>G, XM_006724289.3:c.903A>G, XM_006724289.2:c.903A>G, XM_006724289.1:c.903A>G, NM_002883.4:c.903A>G, NM_002883.3:c.903A>G, XM_017028895.3:c.903A>G, XM_017028895.2:c.903A>G, XM_017028895.1:c.903A>G, XM_017028893.3:c.903A>G, XM_017028893.2:c.903A>G, XM_017028893.1:c.903A>G, XM_017028897.2:c.903A>G, XM_017028897.1:c.903A>G, NM_001278651.2:c.903A>G, NM_001278651.1:c.903A>G, XM_005261695.2:c.1068A>G, XM_005261695.1:c.1068A>G, NM_001317930.2:c.903A>G, NM_001317930.1:c.903A>G, XM_005261696.2:c.1026A>G, XM_005261696.1:c.1026A>G, XM_011530297.2:c.1068A>G, XM_011530297.1:c.1068A>G, XM_047441452.1:c.903A>G, XM_047441453.1:c.804A>G

Select item 146625533810.

rs1466255338 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 22:41285554 (GRCh38)
22:41681558 (GRCh37)
Canonical SPDI:: NC_000022.11:41285553:G:T
Gene:: RANGAP1 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,upstream_transcript_variant,synonymous_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000022.11:g.41285554G>T, NC_000022.10:g.41681558G>T, XM_017028895.3:c.-360C>A, XM_017028895.2:c.-360C>A, XM_017028895.1:c.-360C>A, NM_001278651.2:c.-302C>A, NM_001278651.1:c.-302C>A, XM_005261695.2:c.117C>A, XM_005261695.1:c.117C>A, XM_011530297.2:c.117C>A, XM_011530297.1:c.117C>A

Select item 146520677911.

rs1465206779 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:41285666 (GRCh38)
22:41681670 (GRCh37)
Canonical SPDI:: NC_000022.11:41285665:C:T
Gene:: RANGAP1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000019/5 (TOPMED)
T=0.000021/3 (GnomAD)
HGVS:: NC_000022.11:g.41285666C>T, NC_000022.10:g.41681670C>T, XM_017028895.3:c.-472G>A, XM_017028895.2:c.-472G>A, XM_017028895.1:c.-472G>A, NM_001278651.2:c.-414G>A, NM_001278651.1:c.-414G>A, XM_005261695.2:c.5G>A, XM_005261695.1:c.5G>A, XM_011530297.2:c.5G>A, XM_011530297.1:c.5G>A, XP_005261752.1:p.Gly2Glu, XP_011528599.1:p.Gly2Glu

Select item 146192675512.

rs1461926755 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:41264682 (GRCh38)
22:41660686 (GRCh37)
Canonical SPDI:: NC_000022.11:41264681:C:T
Gene:: RANGAP1 (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_000022.11:g.41264682C>T, NC_000022.10:g.41660686C>T, XM_006724289.5:c.462G>A, XM_006724289.4:c.462G>A, XM_006724289.3:c.462G>A, XM_006724289.2:c.462G>A, XM_006724289.1:c.462G>A, NM_002883.4:c.462G>A, NM_002883.3:c.462G>A, XM_017028895.3:c.462G>A, XM_017028895.2:c.462G>A, XM_017028895.1:c.462G>A, XM_017028893.3:c.462G>A, XM_017028893.2:c.462G>A, XM_017028893.1:c.462G>A, XM_017028897.2:c.462G>A, XM_017028897.1:c.462G>A, NM_001278651.2:c.462G>A, NM_001278651.1:c.462G>A, XM_005261695.2:c.627G>A, XM_005261695.1:c.627G>A, NM_001317930.2:c.462G>A, NM_001317930.1:c.462G>A, XM_005261696.2:c.585G>A, XM_005261696.1:c.585G>A, XM_011530297.2:c.627G>A, XM_011530297.1:c.627G>A, XM_047441452.1:c.462G>A, XM_047441453.1:c.363G>A, XP_006724352.1:p.Met154Ile, NP_002874.1:p.Met154Ile, XP_016884384.1:p.Met154Ile, XP_016884382.1:p.Met154Ile, XP_016884386.1:p.Met154Ile, NP_001265580.1:p.Met154Ile, XP_005261752.1:p.Met209Ile, NP_001304859.1:p.Met154Ile, XP_005261753.1:p.Met195Ile, XP_011528599.1:p.Met209Ile, XP_047297408.1:p.Met154Ile, XP_047297409.1:p.Met121Ile

Select item 146156383213.

rs1461563832 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:41268148 (GRCh38)
22:41664152 (GRCh37)
Canonical SPDI:: NC_000022.11:41268147:G:A
Gene:: RANGAP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.41268148G>A, NC_000022.10:g.41664152G>A, XM_006724289.5:c.249C>T, XM_006724289.4:c.249C>T, XM_006724289.3:c.249C>T, XM_006724289.2:c.249C>T, XM_006724289.1:c.249C>T, NM_002883.4:c.249C>T, NM_002883.3:c.249C>T, XM_017028895.3:c.249C>T, XM_017028895.2:c.249C>T, XM_017028895.1:c.249C>T, XM_017028893.3:c.249C>T, XM_017028893.2:c.249C>T, XM_017028893.1:c.249C>T, XM_017028897.2:c.249C>T, XM_017028897.1:c.249C>T, NM_001278651.2:c.249C>T, NM_001278651.1:c.249C>T, XM_005261695.2:c.414C>T, XM_005261695.1:c.414C>T, NM_001317930.2:c.249C>T, NM_001317930.1:c.249C>T, XM_005261696.2:c.372C>T, XM_005261696.1:c.372C>T, XM_011530297.2:c.414C>T, XM_011530297.1:c.414C>T, XM_047441452.1:c.249C>T, XM_047441453.1:c.150C>T

Select item 145520941114.

rs1455209411 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:41258075 (GRCh38)
22:41654079 (GRCh37)
Canonical SPDI:: NC_000022.11:41258074:G:A
Gene:: RANGAP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000022.11:g.41258075G>A, NC_000022.10:g.41654079G>A, XM_006724289.5:c.647C>T, XM_006724289.4:c.647C>T, XM_006724289.3:c.647C>T, XM_006724289.2:c.647C>T, XM_006724289.1:c.647C>T, NM_002883.4:c.647C>T, NM_002883.3:c.647C>T, XM_017028895.3:c.647C>T, XM_017028895.2:c.647C>T, XM_017028895.1:c.647C>T, XM_017028893.3:c.647C>T, XM_017028893.2:c.647C>T, XM_017028893.1:c.647C>T, XM_017028897.2:c.647C>T, XM_017028897.1:c.647C>T, NM_001278651.2:c.647C>T, NM_001278651.1:c.647C>T, XM_005261695.2:c.812C>T, XM_005261695.1:c.812C>T, NM_001317930.2:c.647C>T, NM_001317930.1:c.647C>T, XM_005261696.2:c.770C>T, XM_005261696.1:c.770C>T, XM_011530297.2:c.812C>T, XM_011530297.1:c.812C>T, XM_047441452.1:c.647C>T, XM_047441453.1:c.548C>T, XP_006724352.1:p.Pro216Leu, NP_002874.1:p.Pro216Leu, XP_016884384.1:p.Pro216Leu, XP_016884382.1:p.Pro216Leu, XP_016884386.1:p.Pro216Leu, NP_001265580.1:p.Pro216Leu, XP_005261752.1:p.Pro271Leu, NP_001304859.1:p.Pro216Leu, XP_005261753.1:p.Pro257Leu, XP_011528599.1:p.Pro271Leu, XP_047297408.1:p.Pro216Leu, XP_047297409.1:p.Pro183Leu

Select item 145193278615.

rs1451932786 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 22:41256207 (GRCh38)
22:41652211 (GRCh37)
Canonical SPDI:: NC_000022.11:41256206:C:T
Gene:: RANGAP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000174/4 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000011/3 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000022.11:g.41256207C>T, NC_000022.10:g.41652211C>T, XM_006724289.5:c.972G>A, XM_006724289.4:c.972G>A, XM_006724289.3:c.972G>A, XM_006724289.2:c.972G>A, XM_006724289.1:c.972G>A, NM_002883.4:c.972G>A, NM_002883.3:c.972G>A, XM_017028895.3:c.972G>A, XM_017028895.2:c.972G>A, XM_017028895.1:c.972G>A, XM_017028893.3:c.972G>A, XM_017028893.2:c.972G>A, XM_017028893.1:c.972G>A, XM_017028897.2:c.972G>A, XM_017028897.1:c.972G>A, NM_001278651.2:c.972G>A, NM_001278651.1:c.972G>A, XM_005261695.2:c.1137G>A, XM_005261695.1:c.1137G>A, NM_001317930.2:c.972G>A, NM_001317930.1:c.972G>A, XM_005261696.2:c.1095G>A, XM_005261696.1:c.1095G>A, XM_011530297.2:c.1137G>A, XM_011530297.1:c.1137G>A, XM_047441452.1:c.972G>A, XM_047441453.1:c.873G>A

Select item 145153718716.

rs1451537187 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 22:41285623 (GRCh38)
22:41681627 (GRCh37)
Canonical SPDI:: NC_000022.11:41285622:G:A,NC_000022.11:41285622:G:C
Gene:: RANGAP1 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,genic_upstream_transcript_variant,synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000049/13 (TOPMED)
HGVS:: NC_000022.11:g.41285623G>A, NC_000022.11:g.41285623G>C, NC_000022.10:g.41681627G>A, NC_000022.10:g.41681627G>C, XM_017028895.3:c.-429C>T, XM_017028895.3:c.-429C>G, XM_017028895.2:c.-429C>T, XM_017028895.2:c.-429C>G, XM_017028895.1:c.-429C>T, XM_017028895.1:c.-429C>G, NM_001278651.2:c.-371C>T, NM_001278651.2:c.-371C>G, NM_001278651.1:c.-371C>T, NM_001278651.1:c.-371C>G, XM_005261695.2:c.48C>T, XM_005261695.2:c.48C>G, XM_005261695.1:c.48C>T, XM_005261695.1:c.48C>G, XM_011530297.2:c.48C>T, XM_011530297.2:c.48C>G, XM_011530297.1:c.48C>T, XM_011530297.1:c.48C>G

Select item 145002536417.

rs1450025364 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 22:41256814 (GRCh38)
22:41652818 (GRCh37)
Canonical SPDI:: NC_000022.11:41256813:G:A,NC_000022.11:41256813:G:T
Gene:: RANGAP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000051/1 (ALFA)
T=0.000004/1 (TOPMED)
A=0.000071/1 (TOMMO)
HGVS:: NC_000022.11:g.41256814G>A, NC_000022.11:g.41256814G>T, NC_000022.10:g.41652818G>A, NC_000022.10:g.41652818G>T, XM_006724289.5:c.785C>T, XM_006724289.5:c.785C>A, XM_006724289.4:c.785C>T, XM_006724289.4:c.785C>A, XM_006724289.3:c.785C>T, XM_006724289.3:c.785C>A, XM_006724289.2:c.785C>T, XM_006724289.2:c.785C>A, XM_006724289.1:c.785C>T, XM_006724289.1:c.785C>A, NM_002883.4:c.785C>T, NM_002883.4:c.785C>A, NM_002883.3:c.785C>T, NM_002883.3:c.785C>A, XM_017028895.3:c.785C>T, XM_017028895.3:c.785C>A, XM_017028895.2:c.785C>T, XM_017028895.2:c.785C>A, XM_017028895.1:c.785C>T, XM_017028895.1:c.785C>A, XM_017028893.3:c.785C>T, XM_017028893.3:c.785C>A, XM_017028893.2:c.785C>T, XM_017028893.2:c.785C>A, XM_017028893.1:c.785C>T, XM_017028893.1:c.785C>A, XM_017028897.2:c.785C>T, XM_017028897.2:c.785C>A, XM_017028897.1:c.785C>T, XM_017028897.1:c.785C>A, NM_001278651.2:c.785C>T, NM_001278651.2:c.785C>A, NM_001278651.1:c.785C>T, NM_001278651.1:c.785C>A, XM_005261695.2:c.950C>T, XM_005261695.2:c.950C>A, XM_005261695.1:c.950C>T, XM_005261695.1:c.950C>A, NM_001317930.2:c.785C>T, NM_001317930.2:c.785C>A, NM_001317930.1:c.785C>T, NM_001317930.1:c.785C>A, XM_005261696.2:c.908C>T, XM_005261696.2:c.908C>A, XM_005261696.1:c.908C>T, XM_005261696.1:c.908C>A, XM_011530297.2:c.950C>T, XM_011530297.2:c.950C>A, XM_011530297.1:c.950C>T, XM_011530297.1:c.950C>A, XM_047441452.1:c.785C>T, XM_047441452.1:c.785C>A, XM_047441453.1:c.686C>T, XM_047441453.1:c.686C>A, XP_006724352.1:p.Thr262Ile, XP_006724352.1:p.Thr262Asn, NP_002874.1:p.Thr262Ile, NP_002874.1:p.Thr262Asn, XP_016884384.1:p.Thr262Ile, XP_016884384.1:p.Thr262Asn, XP_016884382.1:p.Thr262Ile, XP_016884382.1:p.Thr262Asn, XP_016884386.1:p.Thr262Ile, XP_016884386.1:p.Thr262Asn, NP_001265580.1:p.Thr262Ile, NP_001265580.1:p.Thr262Asn, XP_005261752.1:p.Thr317Ile, XP_005261752.1:p.Thr317Asn, NP_001304859.1:p.Thr262Ile, NP_001304859.1:p.Thr262Asn, XP_005261753.1:p.Thr303Ile, XP_005261753.1:p.Thr303Asn, XP_011528599.1:p.Thr317Ile, XP_011528599.1:p.Thr317Asn, XP_047297408.1:p.Thr262Ile, XP_047297408.1:p.Thr262Asn, XP_047297409.1:p.Thr229Ile, XP_047297409.1:p.Thr229Asn

Select item 144755077518.

rs1447550775 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 22:41281075 (GRCh38)
22:41677079 (GRCh37)
Canonical SPDI:: NC_000022.11:41281074:T:A
Gene:: RANGAP1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,genic_upstream_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000224/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000223/1 (Estonian)
HGVS:: NC_000022.11:g.41281075T>A, NC_000022.10:g.41677079T>A, XM_006724289.5:c.-31A>T, XM_006724289.4:c.-31A>T, XM_006724289.3:c.-31A>T, XM_006724289.2:c.-31A>T, XM_006724289.1:c.-31A>T, NM_002883.4:c.-31A>T, NM_002883.3:c.-31A>T, XM_017028895.3:c.-31A>T, XM_017028895.2:c.-31A>T, XM_017028895.1:c.-31A>T, XM_017028893.3:c.-31A>T, XM_017028893.2:c.-31A>T, XM_017028893.1:c.-31A>T, XM_017028897.2:c.-31A>T, XM_017028897.1:c.-31A>T, NM_001278651.2:c.-31A>T, NM_001278651.1:c.-31A>T, XM_005261695.2:c.135A>T, XM_005261695.1:c.135A>T, NM_001317930.2:c.-31A>T, NM_001317930.1:c.-31A>T, XM_005261696.2:c.93A>T, XM_005261696.1:c.93A>T, XM_011530297.2:c.135A>T, XM_011530297.1:c.135A>T, XM_047441452.1:c.-31A>T, XP_005261752.1:p.Arg45Ser, XP_005261753.1:p.Arg31Ser, XP_011528599.1:p.Arg45Ser

Select item 144593511919.

rs1445935119 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 22:41256035 (GRCh38)
22:41652039 (GRCh37)
Canonical SPDI:: NC_000022.11:41256034:C:G
Gene:: RANGAP1 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000022.11:g.41256035C>G, NC_000022.10:g.41652039C>G, XM_006724289.5:c.1059G>C, XM_006724289.4:c.1059G>C, XM_006724289.3:c.1059G>C, XM_006724289.2:c.1059G>C, XM_006724289.1:c.1059G>C, NM_002883.4:c.1059G>C, NM_002883.3:c.1059G>C, XM_017028895.3:c.1059G>C, XM_017028895.2:c.1059G>C, XM_017028895.1:c.1059G>C, XM_017028893.3:c.1059G>C, XM_017028893.2:c.1059G>C, XM_017028893.1:c.1059G>C, XM_017028897.2:c.1059G>C, XM_017028897.1:c.1059G>C, NM_001278651.2:c.1059G>C, NM_001278651.1:c.1059G>C, XM_005261695.2:c.1224G>C, XM_005261695.1:c.1224G>C, NM_001317930.2:c.1059G>C, NM_001317930.1:c.1059G>C, XM_005261696.2:c.1182G>C, XM_005261696.1:c.1182G>C, XM_011530297.2:c.1224G>C, XM_011530297.1:c.1224G>C, XM_047441452.1:c.1059G>C, XM_047441453.1:c.960G>C

Select item 144502249720.

rs1445022497 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 22:41264825 (GRCh38)
22:41660829 (GRCh37)
Canonical SPDI:: NC_000022.11:41264824:G:A
Gene:: RANGAP1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000022.11:g.41264825G>A, NC_000022.10:g.41660829G>A, XM_006724289.5:c.319C>T, XM_006724289.4:c.319C>T, XM_006724289.3:c.319C>T, XM_006724289.2:c.319C>T, XM_006724289.1:c.319C>T, NM_002883.4:c.319C>T, NM_002883.3:c.319C>T, XM_017028895.3:c.319C>T, XM_017028895.2:c.319C>T, XM_017028895.1:c.319C>T, XM_017028893.3:c.319C>T, XM_017028893.2:c.319C>T, XM_017028893.1:c.319C>T, XM_017028897.2:c.319C>T, XM_017028897.1:c.319C>T, NM_001278651.2:c.319C>T, NM_001278651.1:c.319C>T, XM_005261695.2:c.484C>T, XM_005261695.1:c.484C>T, NM_001317930.2:c.319C>T, NM_001317930.1:c.319C>T, XM_005261696.2:c.442C>T, XM_005261696.1:c.442C>T, XM_011530297.2:c.484C>T, XM_011530297.1:c.484C>T, XM_047441452.1:c.319C>T, XM_047441453.1:c.220C>T, XP_006724352.1:p.Leu107Phe, NP_002874.1:p.Leu107Phe, XP_016884384.1:p.Leu107Phe, XP_016884382.1:p.Leu107Phe, XP_016884386.1:p.Leu107Phe, NP_001265580.1:p.Leu107Phe, XP_005261752.1:p.Leu162Phe, NP_001304859.1:p.Leu107Phe, XP_005261753.1:p.Leu148Phe, XP_011528599.1:p.Leu162Phe, XP_047297408.1:p.Leu107Phe, XP_047297409.1:p.Leu74Phe

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