SNP Links for Protein (Select 210147567) - SNP

Links from Protein

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Select item 14901719331.

rs1490171933 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:45596933 (GRCh38)
13:46171068 (GRCh37)
Canonical SPDI:: NC_000013.11:45596932:G:A
Gene:: ERICH6B (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by cluster
MAF:: A=0.000013/2 (GnomAD_exomes)
HGVS:: NC_000013.11:g.45596933G>A, NC_000013.10:g.46171068G>A, XM_011534965.3:c.73C>T, XM_011534965.2:c.73C>T, XM_011534965.1:c.73C>T, NM_182542.3:c.73C>T, NM_182542.2:c.73C>T, XM_017020418.2:c.73C>T, XM_017020418.1:c.73C>T, XP_011533267.1:p.Gln25Ter, NP_872348.2:p.Gln25Ter, XP_016875907.1:p.Gln25Ter

Select item 14885510092.

rs1488551009 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:45590656 (GRCh38)
13:46164791 (GRCh37)
Canonical SPDI:: NC_000013.11:45590655:C:T
Gene:: ERICH6B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.45590656C>T, NC_000013.10:g.46164791C>T, XM_011534965.3:c.679G>A, XM_011534965.2:c.679G>A, XM_011534965.1:c.679G>A, NM_182542.3:c.679G>A, NM_182542.2:c.679G>A, XM_017020418.2:c.679G>A, XM_017020418.1:c.679G>A, XP_011533267.1:p.Asp227Asn, NP_872348.2:p.Asp227Asn, XP_016875907.1:p.Asp227Asn

Select item 14883817403.

rs1488381740 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 13:45596649 (GRCh38)
13:46170784 (GRCh37)
Canonical SPDI:: NC_000013.11:45596648:T:G
Gene:: ERICH6B (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)
HGVS:: NC_000013.11:g.45596649T>G, NC_000013.10:g.46170784T>G, XM_011534965.3:c.357A>C, XM_011534965.2:c.357A>C, XM_011534965.1:c.357A>C, NM_182542.3:c.357A>C, NM_182542.2:c.357A>C, XM_017020418.2:c.357A>C, XM_017020418.1:c.357A>C, XP_011533267.1:p.Glu119Asp, NP_872348.2:p.Glu119Asp, XP_016875907.1:p.Glu119Asp

Select item 14883373534.

rs1488337353 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:45568431 (GRCh38)
13:46142566 (GRCh37)
Canonical SPDI:: NC_000013.11:45568430:C:T
Gene:: ERICH6B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000013.11:g.45568431C>T, NC_000013.10:g.46142566C>T, XM_011534965.3:c.1071G>A, XM_011534965.2:c.1071G>A, XM_011534965.1:c.1071G>A, NM_182542.3:c.1071G>A, NM_182542.2:c.1071G>A, XM_017020418.2:c.1071G>A, XM_017020418.1:c.1071G>A

Select item 14879055575.

rs1487905557 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 13:45587222 (GRCh38)
13:46161357 (GRCh37)
Canonical SPDI:: NC_000013.11:45587221:C:A,NC_000013.11:45587221:C:T
Gene:: ERICH6B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000028/1 (ALFA)
T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.45587222C>A, NC_000013.11:g.45587222C>T, NC_000013.10:g.46161357C>A, NC_000013.10:g.46161357C>T, XM_011534965.3:c.697G>T, XM_011534965.3:c.697G>A, XM_011534965.2:c.697G>T, XM_011534965.2:c.697G>A, XM_011534965.1:c.697G>T, XM_011534965.1:c.697G>A, NM_182542.3:c.697G>T, NM_182542.3:c.697G>A, NM_182542.2:c.697G>T, NM_182542.2:c.697G>A, XM_017020418.2:c.697G>T, XM_017020418.2:c.697G>A, XM_017020418.1:c.697G>T, XM_017020418.1:c.697G>A, XP_011533267.1:p.Ala233Ser, XP_011533267.1:p.Ala233Thr, NP_872348.2:p.Ala233Ser, NP_872348.2:p.Ala233Thr, XP_016875907.1:p.Ala233Ser, XP_016875907.1:p.Ala233Thr

Select item 14863692096.

rs1486369209 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:45550238 (GRCh38)
13:46124373 (GRCh37)
Canonical SPDI:: NC_000013.11:45550237:G:A
Gene:: ERICH6B (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency
MAF:: A=0.000032/5 (GnomAD_exomes)
HGVS:: NC_000013.11:g.45550238G>A, NC_000013.10:g.46124373G>A, XM_011534965.3:c.1486C>T, XM_011534965.2:c.1486C>T, XM_011534965.1:c.1486C>T, NM_182542.3:c.1486C>T, NM_182542.2:c.1486C>T, XM_017020418.2:c.1486C>T, XM_017020418.1:c.1486C>T, XP_011533267.1:p.Gln496Ter, NP_872348.2:p.Gln496Ter, XP_016875907.1:p.Gln496Ter

Select item 14862565007.

rs1486256500 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 13:45574855 (GRCh38)
13:46148990 (GRCh37)
Canonical SPDI:: NC_000013.11:45574854:T:C
Gene:: ERICH6B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0./0 (GnomAD)
HGVS:: NC_000013.11:g.45574855T>C, NC_000013.10:g.46148990T>C, XM_011534965.3:c.1037A>G, XM_011534965.2:c.1037A>G, XM_011534965.1:c.1037A>G, NM_182542.3:c.1037A>G, NM_182542.2:c.1037A>G, XM_017020418.2:c.1037A>G, XM_017020418.1:c.1037A>G, XP_011533267.1:p.Asp346Gly, NP_872348.2:p.Asp346Gly, XP_016875907.1:p.Asp346Gly

Select item 14859610168.

rs1485961016 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 13:45590652 (GRCh38)
13:46164787 (GRCh37)
Canonical SPDI:: NC_000013.11:45590651:G:T
Gene:: ERICH6B (Varview)
Functional Consequence:: coding_sequence_variant,missense_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_000013.11:g.45590652G>T, NC_000013.10:g.46164787G>T, XM_011534965.3:c.683C>A, XM_011534965.2:c.683C>A, XM_011534965.1:c.683C>A, NM_182542.3:c.683C>A, NM_182542.2:c.683C>A, XM_017020418.2:c.683C>A, XM_017020418.1:c.683C>A, XP_011533267.1:p.Ala228Glu, NP_872348.2:p.Ala228Glu, XP_016875907.1:p.Ala228Glu

Select item 14853895379.

rs1485389537 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 13:45544920 (GRCh38)
13:46119055 (GRCh37)
Canonical SPDI:: NC_000013.11:45544919:C:G
Gene:: ERICH6B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.45544920C>G, NC_000013.10:g.46119055C>G, XM_011534965.3:c.1784G>C, XM_011534965.2:c.1784G>C, XM_011534965.1:c.1784G>C, NM_182542.3:c.1712G>C, NM_182542.2:c.1712G>C, XM_017020418.2:c.1712G>C, XM_017020418.1:c.1712G>C, XP_011533267.1:p.Trp595Ser, NP_872348.2:p.Trp571Ser, XP_016875907.1:p.Trp571Ser

Select item 148001025810.

rs1480010258 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:45596870 (GRCh38)
13:46171005 (GRCh37)
Canonical SPDI:: NC_000013.11:45596869:C:T
Gene:: ERICH6B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.45596870C>T, NC_000013.10:g.46171005C>T, XM_011534965.3:c.136G>A, XM_011534965.2:c.136G>A, XM_011534965.1:c.136G>A, NM_182542.3:c.136G>A, NM_182542.2:c.136G>A, XM_017020418.2:c.136G>A, XM_017020418.1:c.136G>A, XP_011533267.1:p.Glu46Lys, NP_872348.2:p.Glu46Lys, XP_016875907.1:p.Glu46Lys

Select item 147992210811.

rs1479922108 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 13:45549985 (GRCh38)
13:46124120 (GRCh37)
Canonical SPDI:: NC_000013.11:45549984:G:T
Gene:: ERICH6B (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
HGVS:: NC_000013.11:g.45549985G>T, NC_000013.10:g.46124120G>T, XM_011534965.3:c.1626C>A, XM_011534965.2:c.1626C>A, XM_011534965.1:c.1626C>A, NM_182542.3:c.1554C>A, NM_182542.2:c.1554C>A, XM_017020418.2:c.1554C>A, XM_017020418.1:c.1554C>A, XP_011533267.1:p.Tyr542Ter, NP_872348.2:p.Tyr518Ter, XP_016875907.1:p.Tyr518Ter

Select item 147808644012.

rs1478086440 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 13:45568315 (GRCh38)
13:46142450 (GRCh37)
Canonical SPDI:: NC_000013.11:45568314:A:G
Gene:: ERICH6B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD_exomes)
G=0.000019/5 (TOPMED)
G=0.000029/4 (GnomAD)
HGVS:: NC_000013.11:g.45568315A>G, NC_000013.10:g.46142450A>G, XM_011534965.3:c.1187T>C, XM_011534965.2:c.1187T>C, XM_011534965.1:c.1187T>C, NM_182542.3:c.1187T>C, NM_182542.2:c.1187T>C, XM_017020418.2:c.1187T>C, XM_017020418.1:c.1187T>C, XP_011533267.1:p.Met396Thr, NP_872348.2:p.Met396Thr, XP_016875907.1:p.Met396Thr

Select item 147806254113.

rs1478062541 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:45587170 (GRCh38)
13:46161305 (GRCh37)
Canonical SPDI:: NC_000013.11:45587169:G:C
Gene:: ERICH6B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.45587170G>C, NC_000013.10:g.46161305G>C, XM_011534965.3:c.749C>G, XM_011534965.2:c.749C>G, XM_011534965.1:c.749C>G, NM_182542.3:c.749C>G, NM_182542.2:c.749C>G, XM_017020418.2:c.749C>G, XM_017020418.1:c.749C>G, XP_011533267.1:p.Thr250Ser, NP_872348.2:p.Thr250Ser, XP_016875907.1:p.Thr250Ser

Select item 147710584414.

rs1477105844 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 13:45561514 (GRCh38)
13:46135649 (GRCh37)
Canonical SPDI:: NC_000013.11:45561513:G:C
Gene:: ERICH6B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.45561514G>C, NC_000013.10:g.46135649G>C, XM_011534965.3:c.1262C>G, XM_011534965.2:c.1262C>G, XM_011534965.1:c.1262C>G, NM_182542.3:c.1262C>G, NM_182542.2:c.1262C>G, XM_017020418.2:c.1262C>G, XM_017020418.1:c.1262C>G, XP_011533267.1:p.Thr421Arg, NP_872348.2:p.Thr421Arg, XP_016875907.1:p.Thr421Arg

Select item 147703376115.

rs1477033761 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:45580603 (GRCh38)
13:46154738 (GRCh37)
Canonical SPDI:: NC_000013.11:45580602:C:T
Gene:: ERICH6B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000006/1 (GnomAD_exomes)
HGVS:: NC_000013.11:g.45580603C>T, NC_000013.10:g.46154738C>T, XM_011534965.3:c.919G>A, XM_011534965.2:c.919G>A, XM_011534965.1:c.919G>A, NM_182542.3:c.919G>A, NM_182542.2:c.919G>A, XM_017020418.2:c.919G>A, XM_017020418.1:c.919G>A, XP_011533267.1:p.Glu307Lys, NP_872348.2:p.Glu307Lys, XP_016875907.1:p.Glu307Lys

Select item 147533577716.

rs1475335777 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:45587143 (GRCh38)
13:46161278 (GRCh37)
Canonical SPDI:: NC_000013.11:45587142:G:A
Gene:: ERICH6B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000006/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000013.11:g.45587143G>A, NC_000013.10:g.46161278G>A, XM_011534965.3:c.776C>T, XM_011534965.2:c.776C>T, XM_011534965.1:c.776C>T, NM_182542.3:c.776C>T, NM_182542.2:c.776C>T, XM_017020418.2:c.776C>T, XM_017020418.1:c.776C>T, XP_011533267.1:p.Thr259Ile, NP_872348.2:p.Thr259Ile, XP_016875907.1:p.Thr259Ile

Select item 147483914017.

rs1474839140 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 13:45596574 (GRCh38)
13:46170709 (GRCh37)
Canonical SPDI:: NC_000013.11:45596573:C:A,NC_000013.11:45596573:C:T
Gene:: ERICH6B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000013.11:g.45596574C>A, NC_000013.11:g.45596574C>T, NC_000013.10:g.46170709C>A, NC_000013.10:g.46170709C>T, XM_011534965.3:c.432G>T, XM_011534965.3:c.432G>A, XM_011534965.2:c.432G>T, XM_011534965.2:c.432G>A, XM_011534965.1:c.432G>T, XM_011534965.1:c.432G>A, NM_182542.3:c.432G>T, NM_182542.3:c.432G>A, NM_182542.2:c.432G>T, NM_182542.2:c.432G>A, XM_017020418.2:c.432G>T, XM_017020418.2:c.432G>A, XM_017020418.1:c.432G>T, XM_017020418.1:c.432G>A

Select item 147325388818.

rs1473253888 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 13:45596819 (GRCh38)
13:46170954 (GRCh37)
Canonical SPDI:: NC_000013.11:45596818:C:T
Gene:: ERICH6B (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_000013.11:g.45596819C>T, NC_000013.10:g.46170954C>T, XM_011534965.3:c.187G>A, XM_011534965.2:c.187G>A, XM_011534965.1:c.187G>A, NM_182542.3:c.187G>A, NM_182542.2:c.187G>A, XM_017020418.2:c.187G>A, XM_017020418.1:c.187G>A, XP_011533267.1:p.Glu63Lys, NP_872348.2:p.Glu63Lys, XP_016875907.1:p.Glu63Lys

Select item 147288524919.

rs1472885249 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 13:45580608 (GRCh38)
13:46154743 (GRCh37)
Canonical SPDI:: NC_000013.11:45580607:G:A
Gene:: ERICH6B (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=0.000015/4 (TOPMED)
A=0.000026/4 (GnomAD_exomes)
A=0.000142/2 (TOMMO)
HGVS:: NC_000013.11:g.45580608G>A, NC_000013.10:g.46154743G>A, XM_011534965.3:c.914C>T, XM_011534965.2:c.914C>T, XM_011534965.1:c.914C>T, NM_182542.3:c.914C>T, NM_182542.2:c.914C>T, XM_017020418.2:c.914C>T, XM_017020418.1:c.914C>T, XP_011533267.1:p.Pro305Leu, NP_872348.2:p.Pro305Leu, XP_016875907.1:p.Pro305Leu

Select item 147041804720.

rs1470418047 has merged into rs142875900 [Homo sapiens]

Variant type:: DELINS
Alleles:: ACTCTTCCTCCTCCAGAT>-,ACTCTTCCTCCTCCAGATACTCTTCCTCCTCCAGAT [Show Flanks]
Chromosome:: 13:45596591 (GRCh38)
13:46170726 (GRCh37)
Canonical SPDI:: NC_000013.11:45596584:CCAGATACTCTTCCTCCTCCAGAT:CCAGAT,NC_000013.11:45596584:CCAGATACTCTTCCTCCTCCAGAT:CCAGATACTCTTCCTCCTCCAGATACTCTTCCTCCTCCAGAT
Gene:: ERICH6B (Varview)
Functional Consequence:: coding_sequence_variant,inframe_insertion,inframe_deletion
Validated:: by frequency,by alfa,by cluster
MAF:: CCAGAT=0.436211/11037 (ALFA)
-=0.067308/14 (Vietnamese)
-=0.089932/1507 (TOMMO)
-=0.14738/270 (Korea1K)
-=0.27842/1394 (1000Genomes)
-=0.376298/2826 (GoESP)
-=0.387981/9445 (ExAC)
-=0.391746/54549 (GnomAD)
-=0.420645/66880 (GnomAD_exomes)
CCAGATACTCTTCCTCCT=0.431667/259 (NorthernSweden)
CCAGATACTCTTCCTCCT=0.49137/1822 (TWINSUK)
-=0.498703/1922 (ALSPAC)
HGVS:: NC_000013.11:g.45596591_45596608del, NC_000013.11:g.45596591_45596608dup, NC_000013.10:g.46170726_46170743del, NC_000013.10:g.46170726_46170743dup, XM_011534965.3:c.404_421del, XM_011534965.3:c.404_421dup, XM_011534965.2:c.404_421del, XM_011534965.2:c.404_421dup, XM_011534965.1:c.404_421del, XM_011534965.1:c.404_421dup, NM_182542.3:c.404_421del, NM_182542.3:c.404_421dup, NM_182542.2:c.404_421del, NM_182542.2:c.404_421dup, XM_017020418.2:c.404_421del, XM_017020418.2:c.404_421dup, XM_017020418.1:c.404_421del, XM_017020418.1:c.404_421dup, XP_011533267.1:p.Glu135_Leu140del, XP_011533267.1:p.Glu135_Leu140dup, NP_872348.2:p.Glu135_Leu140del, NP_872348.2:p.Glu135_Leu140dup, XP_016875907.1:p.Glu135_Leu140del, XP_016875907.1:p.Glu135_Leu140dup

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