SNP Links for Protein (Select 210147507) - SNP

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:11551782 (GRCh38)
16:11645638 (GRCh37)
Canonical SPDI:: NC_000016.10:11551781:C:T
Gene:: LITAF (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000016.10:g.11551782C>T, NC_000016.9:g.11645638C>T, NG_009008.1:g.40169G>A, NM_001136473.1:c.400G>A, NP_001129945.1:p.Val134Ile

Select item 143314484911.

rs1433144849 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:11556627 (GRCh38)
16:11650483 (GRCh37)
Canonical SPDI:: NC_000016.10:11556626:G:A
Gene:: LITAF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.11556627G>A, NC_000016.9:g.11650483G>A, NG_009008.1:g.35324C>T, NM_004862.4:c.104C>T, NM_004862.3:c.104C>T, NR_024320.2:n.238C>T, NR_024320.1:n.238C>T, NM_001136472.2:c.104C>T, NM_001136472.1:c.104C>T, NM_001136473.1:c.104C>T, XM_006720984.5:c.104C>T, XM_006720984.4:c.104C>T, XM_006720984.3:c.104C>T, XM_006720984.2:c.104C>T, XM_006720984.1:c.104C>T, XM_006720983.5:c.104C>T, XM_006720983.4:c.104C>T, XM_006720983.3:c.104C>T, XM_006720983.2:c.104C>T, XM_006720983.1:c.104C>T, XM_011522754.4:c.194C>T, XM_011522754.3:c.194C>T, XM_011522754.2:c.194C>T, XM_011522754.1:c.194C>T, XM_006720982.4:c.104C>T, XM_006720982.3:c.104C>T, XM_006720982.2:c.104C>T, XM_006720982.1:c.104C>T, XM_047434926.1:c.194C>T, XM_047434928.1:c.194C>T, XM_047434927.1:c.194C>T, XM_047434929.1:c.194C>T, NP_004853.2:p.Thr35Ile, NP_001129944.1:p.Thr35Ile, NP_001129945.1:p.Thr35Ile, XP_006721047.1:p.Thr35Ile, XP_006721046.1:p.Thr35Ile, XP_011521056.1:p.Thr65Ile, XP_006721045.1:p.Thr35Ile, XP_047290882.1:p.Thr65Ile, XP_047290884.1:p.Thr65Ile, XP_047290883.1:p.Thr65Ile, XP_047290885.1:p.Thr65Ile

Select item 143097315112.

rs1430973151 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:11556551 (GRCh38)
16:11650407 (GRCh37)
Canonical SPDI:: NC_000016.10:11556550:C:T
Gene:: LITAF (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000021/3 (GnomAD)
HGVS:: NC_000016.10:g.11556551C>T, NC_000016.9:g.11650407C>T, NG_009008.1:g.35400G>A, NM_004862.4:c.180G>A, NM_004862.3:c.180G>A, NR_024320.2:n.314G>A, NR_024320.1:n.314G>A, NM_001136472.2:c.180G>A, NM_001136472.1:c.180G>A, NM_001136473.1:c.180G>A, XM_006720984.5:c.180G>A, XM_006720984.4:c.180G>A, XM_006720984.3:c.180G>A, XM_006720984.2:c.180G>A, XM_006720984.1:c.180G>A, XM_006720983.5:c.180G>A, XM_006720983.4:c.180G>A, XM_006720983.3:c.180G>A, XM_006720983.2:c.180G>A, XM_006720983.1:c.180G>A, XM_011522754.4:c.270G>A, XM_011522754.3:c.270G>A, XM_011522754.2:c.270G>A, XM_011522754.1:c.270G>A, XM_006720982.4:c.180G>A, XM_006720982.3:c.180G>A, XM_006720982.2:c.180G>A, XM_006720982.1:c.180G>A, XM_047434926.1:c.270G>A, XM_047434928.1:c.270G>A, XM_047434927.1:c.270G>A, XM_047434929.1:c.270G>A

Select item 142779456513.

rs1427794565 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 16:11553561 (GRCh38)
16:11647417 (GRCh37)
Canonical SPDI:: NC_000016.10:11553560:G:C
Gene:: LITAF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,non_coding_transcript_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.11553561G>C, NC_000016.9:g.11647417G>C, NG_009008.1:g.38390C>G, NM_004862.4:c.349C>G, NM_004862.3:c.349C>G, NR_024320.2:n.483C>G, NR_024320.1:n.483C>G, NM_001136472.2:c.349C>G, NM_001136472.1:c.349C>G, NM_001136473.1:c.349C>G, XM_006720984.5:c.349C>G, XM_006720984.4:c.349C>G, XM_006720984.3:c.349C>G, XM_006720984.2:c.349C>G, XM_006720984.1:c.349C>G, XM_006720983.5:c.349C>G, XM_006720983.4:c.349C>G, XM_006720983.3:c.349C>G, XM_006720983.2:c.349C>G, XM_006720983.1:c.349C>G, XM_011522754.4:c.439C>G, XM_011522754.3:c.439C>G, XM_011522754.2:c.439C>G, XM_011522754.1:c.439C>G, XM_006720982.4:c.349C>G, XM_006720982.3:c.349C>G, XM_006720982.2:c.349C>G, XM_006720982.1:c.349C>G, XM_047434926.1:c.439C>G, XM_047434928.1:c.439C>G, XM_047434927.1:c.439C>G, XM_047434929.1:c.439C>G, NP_004853.2:p.Leu117Val, NP_001129944.1:p.Leu117Val, NP_001129945.1:p.Leu117Val, XP_006721047.1:p.Leu117Val, XP_006721046.1:p.Leu117Val, XP_011521056.1:p.Leu147Val, XP_006721045.1:p.Leu117Val, XP_047290882.1:p.Leu147Val, XP_047290884.1:p.Leu147Val, XP_047290883.1:p.Leu147Val, XP_047290885.1:p.Leu147Val

Select item 140936156114.

rs1409361561 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:11553663 (GRCh38)
16:11647519 (GRCh37)
Canonical SPDI:: NC_000016.10:11553662:G:A
Gene:: LITAF (Varview)
Functional Consequence:: missense_variant,non_coding_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.11553663G>A, NC_000016.9:g.11647519G>A, NG_009008.1:g.38288C>T, NM_004862.4:c.247C>T, NM_004862.3:c.247C>T, NR_024320.2:n.381C>T, NR_024320.1:n.381C>T, NM_001136472.2:c.247C>T, NM_001136472.1:c.247C>T, NM_001136473.1:c.247C>T, XM_006720984.5:c.247C>T, XM_006720984.4:c.247C>T, XM_006720984.3:c.247C>T, XM_006720984.2:c.247C>T, XM_006720984.1:c.247C>T, XM_006720983.5:c.247C>T, XM_006720983.4:c.247C>T, XM_006720983.3:c.247C>T, XM_006720983.2:c.247C>T, XM_006720983.1:c.247C>T, XM_011522754.4:c.337C>T, XM_011522754.3:c.337C>T, XM_011522754.2:c.337C>T, XM_011522754.1:c.337C>T, XM_006720982.4:c.247C>T, XM_006720982.3:c.247C>T, XM_006720982.2:c.247C>T, XM_006720982.1:c.247C>T, XM_047434926.1:c.337C>T, XM_047434928.1:c.337C>T, XM_047434927.1:c.337C>T, XM_047434929.1:c.337C>T, NP_004853.2:p.His83Tyr, NP_001129944.1:p.His83Tyr, NP_001129945.1:p.His83Tyr, XP_006721047.1:p.His83Tyr, XP_006721046.1:p.His83Tyr, XP_011521056.1:p.His113Tyr, XP_006721045.1:p.His83Tyr, XP_047290882.1:p.His113Tyr, XP_047290884.1:p.His113Tyr, XP_047290883.1:p.His113Tyr, XP_047290885.1:p.His113Tyr

Select item 140047525915.

rs1400475259 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 16:11556555 (GRCh38)
16:11650411 (GRCh37)
Canonical SPDI:: NC_000016.10:11556554:G:A,NC_000016.10:11556554:G:C
Gene:: LITAF (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000016.10:g.11556555G>A, NC_000016.10:g.11556555G>C, NC_000016.9:g.11650411G>A, NC_000016.9:g.11650411G>C, NG_009008.1:g.35396C>T, NG_009008.1:g.35396C>G, NM_004862.4:c.176C>T, NM_004862.4:c.176C>G, NM_004862.3:c.176C>T, NM_004862.3:c.176C>G, NR_024320.2:n.310C>T, NR_024320.2:n.310C>G, NR_024320.1:n.310C>T, NR_024320.1:n.310C>G, NM_001136472.2:c.176C>T, NM_001136472.2:c.176C>G, NM_001136472.1:c.176C>T, NM_001136472.1:c.176C>G, NM_001136473.1:c.176C>T, NM_001136473.1:c.176C>G, XM_006720984.5:c.176C>T, XM_006720984.5:c.176C>G, XM_006720984.4:c.176C>T, XM_006720984.4:c.176C>G, XM_006720984.3:c.176C>T, XM_006720984.3:c.176C>G, XM_006720984.2:c.176C>T, XM_006720984.2:c.176C>G, XM_006720984.1:c.176C>T, XM_006720984.1:c.176C>G, XM_006720983.5:c.176C>T, XM_006720983.5:c.176C>G, XM_006720983.4:c.176C>T, XM_006720983.4:c.176C>G, XM_006720983.3:c.176C>T, XM_006720983.3:c.176C>G, XM_006720983.2:c.176C>T, XM_006720983.2:c.176C>G, XM_006720983.1:c.176C>T, XM_006720983.1:c.176C>G, XM_011522754.4:c.266C>T, XM_011522754.4:c.266C>G, XM_011522754.3:c.266C>T, XM_011522754.3:c.266C>G, XM_011522754.2:c.266C>T, XM_011522754.2:c.266C>G, XM_011522754.1:c.266C>T, XM_011522754.1:c.266C>G, XM_006720982.4:c.176C>T, XM_006720982.4:c.176C>G, XM_006720982.3:c.176C>T, XM_006720982.3:c.176C>G, XM_006720982.2:c.176C>T, XM_006720982.2:c.176C>G, XM_006720982.1:c.176C>T, XM_006720982.1:c.176C>G, XM_047434926.1:c.266C>T, XM_047434926.1:c.266C>G, XM_047434928.1:c.266C>T, XM_047434928.1:c.266C>G, XM_047434927.1:c.266C>T, XM_047434927.1:c.266C>G, XM_047434929.1:c.266C>T, XM_047434929.1:c.266C>G, NP_004853.2:p.Pro59Leu, NP_004853.2:p.Pro59Arg, NP_001129944.1:p.Pro59Leu, NP_001129944.1:p.Pro59Arg, NP_001129945.1:p.Pro59Leu, NP_001129945.1:p.Pro59Arg, XP_006721047.1:p.Pro59Leu, XP_006721047.1:p.Pro59Arg, XP_006721046.1:p.Pro59Leu, XP_006721046.1:p.Pro59Arg, XP_011521056.1:p.Pro89Leu, XP_011521056.1:p.Pro89Arg, XP_006721045.1:p.Pro59Leu, XP_006721045.1:p.Pro59Arg, XP_047290882.1:p.Pro89Leu, XP_047290882.1:p.Pro89Arg, XP_047290884.1:p.Pro89Leu, XP_047290884.1:p.Pro89Arg, XP_047290883.1:p.Pro89Leu, XP_047290883.1:p.Pro89Arg, XP_047290885.1:p.Pro89Leu, XP_047290885.1:p.Pro89Arg

Select item 140031937416.

rs1400319374 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 16:11556707 (GRCh38)
16:11650563 (GRCh37)
Canonical SPDI:: NC_000016.10:11556706:C:G
Gene:: LITAF (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.11556707C>G, NC_000016.9:g.11650563C>G, NG_009008.1:g.35244G>C, NM_004862.4:c.24G>C, NM_004862.3:c.24G>C, NR_024320.2:n.158G>C, NR_024320.1:n.158G>C, NM_001136472.2:c.24G>C, NM_001136472.1:c.24G>C, NM_001136473.1:c.24G>C, XM_006720984.5:c.24G>C, XM_006720984.4:c.24G>C, XM_006720984.3:c.24G>C, XM_006720984.2:c.24G>C, XM_006720984.1:c.24G>C, XM_006720983.5:c.24G>C, XM_006720983.4:c.24G>C, XM_006720983.3:c.24G>C, XM_006720983.2:c.24G>C, XM_006720983.1:c.24G>C, XM_011522754.4:c.114G>C, XM_011522754.3:c.114G>C, XM_011522754.2:c.114G>C, XM_011522754.1:c.114G>C, XM_006720982.4:c.24G>C, XM_006720982.3:c.24G>C, XM_006720982.2:c.24G>C, XM_006720982.1:c.24G>C, XM_047434926.1:c.114G>C, XM_047434928.1:c.114G>C, XM_047434927.1:c.114G>C, XM_047434929.1:c.114G>C, NP_004853.2:p.Gln8His, NP_001129944.1:p.Gln8His, NP_001129945.1:p.Gln8His, XP_006721047.1:p.Gln8His, XP_006721046.1:p.Gln8His, XP_011521056.1:p.Gln38His, XP_006721045.1:p.Gln8His, XP_047290882.1:p.Gln38His, XP_047290884.1:p.Gln38His, XP_047290883.1:p.Gln38His, XP_047290885.1:p.Gln38His

Select item 139175902017.

rs1391759020 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:11553658 (GRCh38)
16:11647514 (GRCh37)
Canonical SPDI:: NC_000016.10:11553657:G:A
Gene:: LITAF (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,synonymous_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_000016.10:g.11553658G>A, NC_000016.9:g.11647514G>A, NG_009008.1:g.38293C>T, NM_004862.4:c.252C>T, NM_004862.3:c.252C>T, NR_024320.2:n.386C>T, NR_024320.1:n.386C>T, NM_001136472.2:c.252C>T, NM_001136472.1:c.252C>T, NM_001136473.1:c.252C>T, XM_006720984.5:c.252C>T, XM_006720984.4:c.252C>T, XM_006720984.3:c.252C>T, XM_006720984.2:c.252C>T, XM_006720984.1:c.252C>T, XM_006720983.5:c.252C>T, XM_006720983.4:c.252C>T, XM_006720983.3:c.252C>T, XM_006720983.2:c.252C>T, XM_006720983.1:c.252C>T, XM_011522754.4:c.342C>T, XM_011522754.3:c.342C>T, XM_011522754.2:c.342C>T, XM_011522754.1:c.342C>T, XM_006720982.4:c.252C>T, XM_006720982.3:c.252C>T, XM_006720982.2:c.252C>T, XM_006720982.1:c.252C>T, XM_047434926.1:c.342C>T, XM_047434928.1:c.342C>T, XM_047434927.1:c.342C>T, XM_047434929.1:c.342C>T

Select item 138611854818.

rs1386118548 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 16:11556697 (GRCh38)
16:11650553 (GRCh37)
Canonical SPDI:: NC_000016.10:11556696:C:T
Gene:: LITAF (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000016.10:g.11556697C>T, NC_000016.9:g.11650553C>T, NG_009008.1:g.35254G>A, NM_004862.4:c.34G>A, NM_004862.3:c.34G>A, NR_024320.2:n.168G>A, NR_024320.1:n.168G>A, NM_001136472.2:c.34G>A, NM_001136472.1:c.34G>A, NM_001136473.1:c.34G>A, XM_006720984.5:c.34G>A, XM_006720984.4:c.34G>A, XM_006720984.3:c.34G>A, XM_006720984.2:c.34G>A, XM_006720984.1:c.34G>A, XM_006720983.5:c.34G>A, XM_006720983.4:c.34G>A, XM_006720983.3:c.34G>A, XM_006720983.2:c.34G>A, XM_006720983.1:c.34G>A, XM_011522754.4:c.124G>A, XM_011522754.3:c.124G>A, XM_011522754.2:c.124G>A, XM_011522754.1:c.124G>A, XM_006720982.4:c.34G>A, XM_006720982.3:c.34G>A, XM_006720982.2:c.34G>A, XM_006720982.1:c.34G>A, XM_047434926.1:c.124G>A, XM_047434928.1:c.124G>A, XM_047434927.1:c.124G>A, XM_047434929.1:c.124G>A, NP_004853.2:p.Gly12Arg, NP_001129944.1:p.Gly12Arg, NP_001129945.1:p.Gly12Arg, XP_006721047.1:p.Gly12Arg, XP_006721046.1:p.Gly12Arg, XP_011521056.1:p.Gly42Arg, XP_006721045.1:p.Gly12Arg, XP_047290882.1:p.Gly42Arg, XP_047290884.1:p.Gly42Arg, XP_047290883.1:p.Gly42Arg, XP_047290885.1:p.Gly42Arg

Select item 138175787719.

rs1381757877 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 16:11551787 (GRCh38)
16:11645643 (GRCh37)
Canonical SPDI:: NC_000016.10:11551786:G:A
Gene:: LITAF (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000016.10:g.11551787G>A, NC_000016.9:g.11645643G>A, NG_009008.1:g.40164C>T, NM_001136473.1:c.395C>T, NP_001129945.1:p.Thr132Met

Select item 137695422720.

rs1376954227 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 16:11556520 (GRCh38)
16:11650376 (GRCh37)
Canonical SPDI:: NC_000016.10:11556519:T:A
Gene:: LITAF (Varview)
Functional Consequence:: non_coding_transcript_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000016.10:g.11556520T>A, NC_000016.9:g.11650376T>A, NG_009008.1:g.35431A>T, NM_004862.4:c.211A>T, NM_004862.3:c.211A>T, NR_024320.2:n.345A>T, NR_024320.1:n.345A>T, NM_001136472.2:c.211A>T, NM_001136472.1:c.211A>T, NM_001136473.1:c.211A>T, XM_006720984.5:c.211A>T, XM_006720984.4:c.211A>T, XM_006720984.3:c.211A>T, XM_006720984.2:c.211A>T, XM_006720984.1:c.211A>T, XM_006720983.5:c.211A>T, XM_006720983.4:c.211A>T, XM_006720983.3:c.211A>T, XM_006720983.2:c.211A>T, XM_006720983.1:c.211A>T, XM_011522754.4:c.301A>T, XM_011522754.3:c.301A>T, XM_011522754.2:c.301A>T, XM_011522754.1:c.301A>T, XM_006720982.4:c.211A>T, XM_006720982.3:c.211A>T, XM_006720982.2:c.211A>T, XM_006720982.1:c.211A>T, XM_047434926.1:c.301A>T, XM_047434928.1:c.301A>T, XM_047434927.1:c.301A>T, XM_047434929.1:c.301A>T, NP_004853.2:p.Asn71Tyr, NP_001129944.1:p.Asn71Tyr, NP_001129945.1:p.Asn71Tyr, XP_006721047.1:p.Asn71Tyr, XP_006721046.1:p.Asn71Tyr, XP_011521056.1:p.Asn101Tyr, XP_006721045.1:p.Asn71Tyr, XP_047290882.1:p.Asn101Tyr, XP_047290884.1:p.Asn101Tyr, XP_047290883.1:p.Asn101Tyr, XP_047290885.1:p.Asn101Tyr

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