SNP Links for Protein (Select 284519714) - SNP

Links from Protein

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Select item 14719896041.

rs1471989604 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:50560998 (GRCh38)
3:50598429 (GRCh37)
Canonical SPDI:: NC_000003.12:50560997:C:T
Gene:: C3orf18 (Varview)
Functional Consequence:: intron_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.50560998C>T, NC_000003.11:g.50598429C>T, NM_016210.5:c.327G>A, NM_016210.4:c.327G>A, XM_011533781.3:c.549G>A, XM_011533781.2:c.549G>A, XM_011533781.1:c.549G>A, XM_011533782.3:c.339G>A, XM_011533782.2:c.339G>A, XM_011533782.1:c.339G>A, XM_011533783.3:c.339G>A, XM_011533783.2:c.339G>A, XM_011533783.1:c.339G>A, NM_001171740.3:c.327G>A, NM_001171740.2:c.327G>A, XM_011533784.3:c.339G>A, XM_011533784.2:c.339G>A, XM_011533784.1:c.339G>A, XM_011533785.3:c.339G>A, XM_011533785.2:c.339G>A, XM_011533785.1:c.339G>A, NM_001171741.3:c.327G>A, NM_001171741.2:c.327G>A, NM_001171743.3:c.267G>A, NM_001171743.2:c.267G>A, XM_011533790.2:c.267G>A, XM_011533790.1:c.267G>A, XM_017006547.2:c.267G>A, XM_017006547.1:c.267G>A, XM_047448249.1:c.327G>A, XM_047448252.1:c.267G>A, XM_047448248.1:c.339G>A

Select item 14712828772.

rs1471282877 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GCTG [Show Flanks]
Chromosome:: 3:50565656 (GRCh38)
3:50603088 (GRCh37)
Canonical SPDI:: NC_000003.12:50565656:GGCTG:GGCTGGCTG
Gene:: C3orf18 (Varview)
Functional Consequence:: frameshift_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GGCTGGCTG=0./0 (ALFA)
GGCT=0.000007/1 (GnomAD)
GGCT=0.000008/2 (GnomAD_exomes)
GGCT=0.000019/5 (TOPMED)
GGCT=0.00008/1 (GoESP)
HGVS:: NC_000003.12:g.50565658_50565661dup, NC_000003.11:g.50603089_50603092dup, NM_016210.5:c.40_43dup, NM_016210.4:c.40_43dup, XM_011533782.3:c.40_43dup, XM_011533782.2:c.40_43dup, XM_011533782.1:c.40_43dup, XM_011533783.3:c.40_43dup, XM_011533783.2:c.40_43dup, XM_011533783.1:c.40_43dup, NM_001171740.3:c.40_43dup, NM_001171740.2:c.40_43dup, XM_011533784.3:c.40_43dup, XM_011533784.2:c.40_43dup, XM_011533784.1:c.40_43dup, XM_011533785.3:c.40_43dup, XM_011533785.2:c.40_43dup, XM_011533785.1:c.40_43dup, NM_001171741.3:c.40_43dup, NM_001171741.2:c.40_43dup, NM_001171743.3:c.40_43dup, NM_001171743.2:c.40_43dup, XM_011533790.2:c.40_43dup, XM_011533790.1:c.40_43dup, XM_017006547.2:c.40_43dup, XM_017006547.1:c.40_43dup, XM_047448249.1:c.40_43dup, XM_047448252.1:c.40_43dup, XM_047448248.1:c.40_43dup, NP_057294.2:p.Arg15fs, XP_011532084.1:p.Arg15fs, XP_011532085.1:p.Arg15fs, NP_001165211.1:p.Arg15fs, XP_011532086.1:p.Arg15fs, XP_011532087.1:p.Arg15fs, NP_001165212.1:p.Arg15fs, NP_001165214.2:p.Arg15fs, XP_011532092.1:p.Arg15fs, XP_016862036.1:p.Arg15fs, XP_047304205.1:p.Arg15fs, XP_047304208.1:p.Arg15fs, XP_047304204.1:p.Arg15fs

Select item 14640442593.

rs1464044259 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:50559734 (GRCh38)
3:50597165 (GRCh37)
Canonical SPDI:: NC_000003.12:50559733:T:C
Gene:: C3orf18 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.50559734T>C, NC_000003.11:g.50597165T>C, NM_016210.5:c.412A>G, NM_016210.4:c.412A>G, XM_011533781.3:c.634A>G, XM_011533781.2:c.634A>G, XM_011533781.1:c.634A>G, XM_011533782.3:c.424A>G, XM_011533782.2:c.424A>G, XM_011533782.1:c.424A>G, XM_011533783.3:c.424A>G, XM_011533783.2:c.424A>G, XM_011533783.1:c.424A>G, NM_001171740.3:c.412A>G, NM_001171740.2:c.412A>G, XM_011533784.3:c.424A>G, XM_011533784.2:c.424A>G, XM_011533784.1:c.424A>G, XM_011533785.3:c.424A>G, XM_011533785.2:c.424A>G, XM_011533785.1:c.424A>G, NM_001171741.3:c.412A>G, NM_001171741.2:c.412A>G, NM_001171743.3:c.352A>G, NM_001171743.2:c.352A>G, XM_011533790.2:c.352A>G, XM_011533790.1:c.352A>G, XM_017006547.2:c.352A>G, XM_017006547.1:c.352A>G, XM_017006546.2:c.-588A>G, XM_017006546.1:c.-588A>G, XM_011533789.2:c.-588A>G, XM_011533789.1:c.-588A>G, XM_047448249.1:c.412A>G, XM_047448252.1:c.352A>G, XM_047448248.1:c.424A>G, XM_047448250.1:c.-588A>G, NP_057294.2:p.Thr138Ala, XP_011532083.1:p.Thr212Ala, XP_011532084.1:p.Thr142Ala, XP_011532085.1:p.Thr142Ala, NP_001165211.1:p.Thr138Ala, XP_011532086.1:p.Thr142Ala, XP_011532087.1:p.Thr142Ala, NP_001165212.1:p.Thr138Ala, NP_001165214.2:p.Thr118Ala, XP_011532092.1:p.Thr118Ala, XP_016862036.1:p.Thr118Ala, XP_047304205.1:p.Thr138Ala, XP_047304208.1:p.Thr118Ala, XP_047304204.1:p.Thr142Ala

Select item 14629802134.

rs1462980213 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:50559719 (GRCh38)
3:50597150 (GRCh37)
Canonical SPDI:: NC_000003.12:50559718:C:A
Gene:: C3orf18 (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.50559719C>A, NC_000003.11:g.50597150C>A, NM_016210.5:c.427G>T, NM_016210.4:c.427G>T, XM_011533781.3:c.649G>T, XM_011533781.2:c.649G>T, XM_011533781.1:c.649G>T, XM_011533782.3:c.439G>T, XM_011533782.2:c.439G>T, XM_011533782.1:c.439G>T, XM_011533783.3:c.439G>T, XM_011533783.2:c.439G>T, XM_011533783.1:c.439G>T, NM_001171740.3:c.427G>T, NM_001171740.2:c.427G>T, XM_011533784.3:c.439G>T, XM_011533784.2:c.439G>T, XM_011533784.1:c.439G>T, XM_011533785.3:c.439G>T, XM_011533785.2:c.439G>T, XM_011533785.1:c.439G>T, NM_001171741.3:c.427G>T, NM_001171741.2:c.427G>T, NM_001171743.3:c.367G>T, NM_001171743.2:c.367G>T, XM_011533790.2:c.367G>T, XM_011533790.1:c.367G>T, XM_017006547.2:c.367G>T, XM_017006547.1:c.367G>T, XM_017006546.2:c.-573G>T, XM_017006546.1:c.-573G>T, XM_011533789.2:c.-573G>T, XM_011533789.1:c.-573G>T, XM_047448249.1:c.427G>T, XM_047448252.1:c.367G>T, XM_047448248.1:c.439G>T, XM_047448250.1:c.-573G>T, NP_057294.2:p.Gly143Cys, XP_011532083.1:p.Gly217Cys, XP_011532084.1:p.Gly147Cys, XP_011532085.1:p.Gly147Cys, NP_001165211.1:p.Gly143Cys, XP_011532086.1:p.Gly147Cys, XP_011532087.1:p.Gly147Cys, NP_001165212.1:p.Gly143Cys, NP_001165214.2:p.Gly123Cys, XP_011532092.1:p.Gly123Cys, XP_016862036.1:p.Gly123Cys, XP_047304205.1:p.Gly143Cys, XP_047304208.1:p.Gly123Cys, XP_047304204.1:p.Gly147Cys

Select item 14483620845.

rs1448362084 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:50559694 (GRCh38)
3:50597125 (GRCh37)
Canonical SPDI:: NC_000003.12:50559693:A:G
Gene:: C3orf18 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,missense_variant
HGVS:: NC_000003.12:g.50559694A>G, NC_000003.11:g.50597125A>G, NM_016210.5:c.452T>C, NM_016210.4:c.452T>C, XM_011533781.3:c.674T>C, XM_011533781.2:c.674T>C, XM_011533781.1:c.674T>C, XM_011533782.3:c.464T>C, XM_011533782.2:c.464T>C, XM_011533782.1:c.464T>C, XM_011533783.3:c.464T>C, XM_011533783.2:c.464T>C, XM_011533783.1:c.464T>C, NM_001171740.3:c.452T>C, NM_001171740.2:c.452T>C, XM_011533784.3:c.464T>C, XM_011533784.2:c.464T>C, XM_011533784.1:c.464T>C, XM_011533785.3:c.464T>C, XM_011533785.2:c.464T>C, XM_011533785.1:c.464T>C, NM_001171741.3:c.452T>C, NM_001171741.2:c.452T>C, NM_001171743.3:c.392T>C, NM_001171743.2:c.392T>C, XM_011533790.2:c.392T>C, XM_011533790.1:c.392T>C, XM_017006547.2:c.392T>C, XM_017006547.1:c.392T>C, XM_017006546.2:c.-548T>C, XM_017006546.1:c.-548T>C, XM_011533789.2:c.-548T>C, XM_011533789.1:c.-548T>C, XM_047448249.1:c.452T>C, XM_047448252.1:c.392T>C, XM_047448248.1:c.464T>C, XM_047448250.1:c.-548T>C, NP_057294.2:p.Leu151Pro, XP_011532083.1:p.Leu225Pro, XP_011532084.1:p.Leu155Pro, XP_011532085.1:p.Leu155Pro, NP_001165211.1:p.Leu151Pro, XP_011532086.1:p.Leu155Pro, XP_011532087.1:p.Leu155Pro, NP_001165212.1:p.Leu151Pro, NP_001165214.2:p.Leu131Pro, XP_011532092.1:p.Leu131Pro, XP_016862036.1:p.Leu131Pro, XP_047304205.1:p.Leu151Pro, XP_047304208.1:p.Leu131Pro, XP_047304204.1:p.Leu155Pro

Select item 14464303336.

rs1446430333 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:50565495 (GRCh38)
3:50602926 (GRCh37)
Canonical SPDI:: NC_000003.12:50565494:T:C
Gene:: C3orf18 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.50565495T>C, NC_000003.11:g.50602926T>C, NM_016210.5:c.205A>G, NM_016210.4:c.205A>G, XM_011533782.3:c.205A>G, XM_011533782.2:c.205A>G, XM_011533782.1:c.205A>G, XM_011533783.3:c.205A>G, XM_011533783.2:c.205A>G, XM_011533783.1:c.205A>G, NM_001171740.3:c.205A>G, NM_001171740.2:c.205A>G, XM_011533784.3:c.205A>G, XM_011533784.2:c.205A>G, XM_011533784.1:c.205A>G, XM_011533785.3:c.205A>G, XM_011533785.2:c.205A>G, XM_011533785.1:c.205A>G, NM_001171741.3:c.205A>G, NM_001171741.2:c.205A>G, XM_047448249.1:c.205A>G, XM_047448248.1:c.205A>G, NP_057294.2:p.Ile69Val, XP_011532084.1:p.Ile69Val, XP_011532085.1:p.Ile69Val, NP_001165211.1:p.Ile69Val, XP_011532086.1:p.Ile69Val, XP_011532087.1:p.Ile69Val, NP_001165212.1:p.Ile69Val, XP_047304205.1:p.Ile69Val, XP_047304204.1:p.Ile69Val

Select item 14453183697.

rs1445318369 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:50565695 (GRCh38)
3:50603126 (GRCh37)
Canonical SPDI:: NC_000003.12:50565694:T:C
Gene:: C3orf18 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.50565695T>C, NC_000003.11:g.50603126T>C, NM_016210.5:c.5A>G, NM_016210.4:c.5A>G, XM_011533782.3:c.5A>G, XM_011533782.2:c.5A>G, XM_011533782.1:c.5A>G, XM_011533783.3:c.5A>G, XM_011533783.2:c.5A>G, XM_011533783.1:c.5A>G, NM_001171740.3:c.5A>G, NM_001171740.2:c.5A>G, XM_011533784.3:c.5A>G, XM_011533784.2:c.5A>G, XM_011533784.1:c.5A>G, XM_011533785.3:c.5A>G, XM_011533785.2:c.5A>G, XM_011533785.1:c.5A>G, NM_001171741.3:c.5A>G, NM_001171741.2:c.5A>G, NM_001171743.3:c.5A>G, NM_001171743.2:c.5A>G, XM_011533790.2:c.5A>G, XM_011533790.1:c.5A>G, XM_017006547.2:c.5A>G, XM_017006547.1:c.5A>G, XM_047448249.1:c.5A>G, XM_047448252.1:c.5A>G, XM_047448248.1:c.5A>G, NP_057294.2:p.Asn2Ser, XP_011532084.1:p.Asn2Ser, XP_011532085.1:p.Asn2Ser, NP_001165211.1:p.Asn2Ser, XP_011532086.1:p.Asn2Ser, XP_011532087.1:p.Asn2Ser, NP_001165212.1:p.Asn2Ser, NP_001165214.2:p.Asn2Ser, XP_011532092.1:p.Asn2Ser, XP_016862036.1:p.Asn2Ser, XP_047304205.1:p.Asn2Ser, XP_047304208.1:p.Asn2Ser, XP_047304204.1:p.Asn2Ser

Select item 14410922458.

rs1441092245 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:50560922 (GRCh38)
3:50598353 (GRCh37)
Canonical SPDI:: NC_000003.12:50560921:C:T
Gene:: C3orf18 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.50560922C>T, NC_000003.11:g.50598353C>T, NM_016210.5:c.403G>A, NM_016210.4:c.403G>A, XM_011533781.3:c.625G>A, XM_011533781.2:c.625G>A, XM_011533781.1:c.625G>A, XM_011533782.3:c.415G>A, XM_011533782.2:c.415G>A, XM_011533782.1:c.415G>A, XM_011533783.3:c.415G>A, XM_011533783.2:c.415G>A, XM_011533783.1:c.415G>A, NM_001171740.3:c.403G>A, NM_001171740.2:c.403G>A, XM_011533784.3:c.415G>A, XM_011533784.2:c.415G>A, XM_011533784.1:c.415G>A, XM_011533785.3:c.415G>A, XM_011533785.2:c.415G>A, XM_011533785.1:c.415G>A, NM_001171741.3:c.403G>A, NM_001171741.2:c.403G>A, NM_001171743.3:c.343G>A, NM_001171743.2:c.343G>A, XM_011533790.2:c.343G>A, XM_011533790.1:c.343G>A, XM_017006547.2:c.343G>A, XM_017006547.1:c.343G>A, XM_047448249.1:c.403G>A, XM_047448252.1:c.343G>A, XM_047448248.1:c.415G>A, NP_057294.2:p.Gly135Ser, XP_011532083.1:p.Gly209Ser, XP_011532084.1:p.Gly139Ser, XP_011532085.1:p.Gly139Ser, NP_001165211.1:p.Gly135Ser, XP_011532086.1:p.Gly139Ser, XP_011532087.1:p.Gly139Ser, NP_001165212.1:p.Gly135Ser, NP_001165214.2:p.Gly115Ser, XP_011532092.1:p.Gly115Ser, XP_016862036.1:p.Gly115Ser, XP_047304205.1:p.Gly135Ser, XP_047304208.1:p.Gly115Ser, XP_047304204.1:p.Gly139Ser

Select item 14344752259.

rs1434475225 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:50559711 (GRCh38)
3:50597142 (GRCh37)
Canonical SPDI:: NC_000003.12:50559710:C:T
Gene:: C3orf18 (Varview)
Functional Consequence:: coding_sequence_variant,5_prime_UTR_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0./0 (GnomAD)
HGVS:: NC_000003.12:g.50559711C>T, NC_000003.11:g.50597142C>T, NM_016210.5:c.435G>A, NM_016210.4:c.435G>A, XM_011533781.3:c.657G>A, XM_011533781.2:c.657G>A, XM_011533781.1:c.657G>A, XM_011533782.3:c.447G>A, XM_011533782.2:c.447G>A, XM_011533782.1:c.447G>A, XM_011533783.3:c.447G>A, XM_011533783.2:c.447G>A, XM_011533783.1:c.447G>A, NM_001171740.3:c.435G>A, NM_001171740.2:c.435G>A, XM_011533784.3:c.447G>A, XM_011533784.2:c.447G>A, XM_011533784.1:c.447G>A, XM_011533785.3:c.447G>A, XM_011533785.2:c.447G>A, XM_011533785.1:c.447G>A, NM_001171741.3:c.435G>A, NM_001171741.2:c.435G>A, NM_001171743.3:c.375G>A, NM_001171743.2:c.375G>A, XM_011533790.2:c.375G>A, XM_011533790.1:c.375G>A, XM_017006547.2:c.375G>A, XM_017006547.1:c.375G>A, XM_017006546.2:c.-565G>A, XM_017006546.1:c.-565G>A, XM_011533789.2:c.-565G>A, XM_011533789.1:c.-565G>A, XM_047448249.1:c.435G>A, XM_047448252.1:c.375G>A, XM_047448248.1:c.447G>A, XM_047448250.1:c.-565G>A

Select item 142917495310.

rs1429174953 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C,G [Show Flanks]
Chromosome:: 3:50561738 (GRCh38)
3:50599169 (GRCh37)
Canonical SPDI:: NC_000003.12:50561737:T:C,NC_000003.12:50561737:T:G
Gene:: C3orf18 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000003.12:g.50561738T>C, NC_000003.12:g.50561738T>G, NC_000003.11:g.50599169T>C, NC_000003.11:g.50599169T>G, NM_016210.5:c.244A>G, NM_016210.5:c.244A>C, NM_016210.4:c.244A>G, NM_016210.4:c.244A>C, XM_011533781.3:c.466A>G, XM_011533781.3:c.466A>C, XM_011533781.2:c.466A>G, XM_011533781.2:c.466A>C, XM_011533781.1:c.466A>G, XM_011533781.1:c.466A>C, XM_011533782.3:c.256A>G, XM_011533782.3:c.256A>C, XM_011533782.2:c.256A>G, XM_011533782.2:c.256A>C, XM_011533782.1:c.256A>G, XM_011533782.1:c.256A>C, XM_011533783.3:c.256A>G, XM_011533783.3:c.256A>C, XM_011533783.2:c.256A>G, XM_011533783.2:c.256A>C, XM_011533783.1:c.256A>G, XM_011533783.1:c.256A>C, NM_001171740.3:c.244A>G, NM_001171740.3:c.244A>C, NM_001171740.2:c.244A>G, NM_001171740.2:c.244A>C, XM_011533784.3:c.256A>G, XM_011533784.3:c.256A>C, XM_011533784.2:c.256A>G, XM_011533784.2:c.256A>C, XM_011533784.1:c.256A>G, XM_011533784.1:c.256A>C, XM_011533785.3:c.256A>G, XM_011533785.3:c.256A>C, XM_011533785.2:c.256A>G, XM_011533785.2:c.256A>C, XM_011533785.1:c.256A>G, XM_011533785.1:c.256A>C, NM_001171741.3:c.244A>G, NM_001171741.3:c.244A>C, NM_001171741.2:c.244A>G, NM_001171741.2:c.244A>C, NM_001171743.3:c.184A>G, NM_001171743.3:c.184A>C, NM_001171743.2:c.184A>G, NM_001171743.2:c.184A>C, XM_011533790.2:c.184A>G, XM_011533790.2:c.184A>C, XM_011533790.1:c.184A>G, XM_011533790.1:c.184A>C, XM_017006547.2:c.184A>G, XM_017006547.2:c.184A>C, XM_017006547.1:c.184A>G, XM_017006547.1:c.184A>C, XM_017006546.2:c.-608A>G, XM_017006546.2:c.-608A>C, XM_017006546.1:c.-608A>G, XM_017006546.1:c.-608A>C, XM_011533789.2:c.-608A>G, XM_011533789.2:c.-608A>C, XM_011533789.1:c.-608A>G, XM_011533789.1:c.-608A>C, XM_047448249.1:c.244A>G, XM_047448249.1:c.244A>C, XM_047448252.1:c.184A>G, XM_047448252.1:c.184A>C, XM_047448248.1:c.256A>G, XM_047448248.1:c.256A>C, XM_047448250.1:c.-608A>G, XM_047448250.1:c.-608A>C, NP_057294.2:p.Ile82Val, NP_057294.2:p.Ile82Leu, XP_011532083.1:p.Ile156Val, XP_011532083.1:p.Ile156Leu, XP_011532084.1:p.Ile86Val, XP_011532084.1:p.Ile86Leu, XP_011532085.1:p.Ile86Val, XP_011532085.1:p.Ile86Leu, NP_001165211.1:p.Ile82Val, NP_001165211.1:p.Ile82Leu, XP_011532086.1:p.Ile86Val, XP_011532086.1:p.Ile86Leu, XP_011532087.1:p.Ile86Val, XP_011532087.1:p.Ile86Leu, NP_001165212.1:p.Ile82Val, NP_001165212.1:p.Ile82Leu, NP_001165214.2:p.Ile62Val, NP_001165214.2:p.Ile62Leu, XP_011532092.1:p.Ile62Val, XP_011532092.1:p.Ile62Leu, XP_016862036.1:p.Ile62Val, XP_016862036.1:p.Ile62Leu, XP_047304205.1:p.Ile82Val, XP_047304205.1:p.Ile82Leu, XP_047304208.1:p.Ile62Val, XP_047304208.1:p.Ile62Leu, XP_047304204.1:p.Ile86Val, XP_047304204.1:p.Ile86Leu

Select item 142516736111.

rs1425167361 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:50565611 (GRCh38)
3:50603042 (GRCh37)
Canonical SPDI:: NC_000003.12:50565610:G:C
Gene:: C3orf18 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.50565611G>C, NC_000003.11:g.50603042G>C, NM_016210.5:c.89C>G, NM_016210.4:c.89C>G, XM_011533782.3:c.89C>G, XM_011533782.2:c.89C>G, XM_011533782.1:c.89C>G, XM_011533783.3:c.89C>G, XM_011533783.2:c.89C>G, XM_011533783.1:c.89C>G, NM_001171740.3:c.89C>G, NM_001171740.2:c.89C>G, XM_011533784.3:c.89C>G, XM_011533784.2:c.89C>G, XM_011533784.1:c.89C>G, XM_011533785.3:c.89C>G, XM_011533785.2:c.89C>G, XM_011533785.1:c.89C>G, NM_001171741.3:c.89C>G, NM_001171741.2:c.89C>G, NM_001171743.3:c.89C>G, NM_001171743.2:c.89C>G, XM_011533790.2:c.89C>G, XM_011533790.1:c.89C>G, XM_017006547.2:c.89C>G, XM_017006547.1:c.89C>G, XM_047448249.1:c.89C>G, XM_047448252.1:c.89C>G, XM_047448248.1:c.89C>G, NP_057294.2:p.Pro30Arg, XP_011532084.1:p.Pro30Arg, XP_011532085.1:p.Pro30Arg, NP_001165211.1:p.Pro30Arg, XP_011532086.1:p.Pro30Arg, XP_011532087.1:p.Pro30Arg, NP_001165212.1:p.Pro30Arg, NP_001165214.2:p.Pro30Arg, XP_011532092.1:p.Pro30Arg, XP_016862036.1:p.Pro30Arg, XP_047304205.1:p.Pro30Arg, XP_047304208.1:p.Pro30Arg, XP_047304204.1:p.Pro30Arg

Select item 141150328612.

rs1411503286 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:50565621 (GRCh38)
3:50603052 (GRCh37)
Canonical SPDI:: NC_000003.12:50565620:T:C
Gene:: C3orf18 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.50565621T>C, NC_000003.11:g.50603052T>C, NM_016210.5:c.79A>G, NM_016210.4:c.79A>G, XM_011533782.3:c.79A>G, XM_011533782.2:c.79A>G, XM_011533782.1:c.79A>G, XM_011533783.3:c.79A>G, XM_011533783.2:c.79A>G, XM_011533783.1:c.79A>G, NM_001171740.3:c.79A>G, NM_001171740.2:c.79A>G, XM_011533784.3:c.79A>G, XM_011533784.2:c.79A>G, XM_011533784.1:c.79A>G, XM_011533785.3:c.79A>G, XM_011533785.2:c.79A>G, XM_011533785.1:c.79A>G, NM_001171741.3:c.79A>G, NM_001171741.2:c.79A>G, NM_001171743.3:c.79A>G, NM_001171743.2:c.79A>G, XM_011533790.2:c.79A>G, XM_011533790.1:c.79A>G, XM_017006547.2:c.79A>G, XM_017006547.1:c.79A>G, XM_047448249.1:c.79A>G, XM_047448252.1:c.79A>G, XM_047448248.1:c.79A>G, NP_057294.2:p.Thr27Ala, XP_011532084.1:p.Thr27Ala, XP_011532085.1:p.Thr27Ala, NP_001165211.1:p.Thr27Ala, XP_011532086.1:p.Thr27Ala, XP_011532087.1:p.Thr27Ala, NP_001165212.1:p.Thr27Ala, NP_001165214.2:p.Thr27Ala, XP_011532092.1:p.Thr27Ala, XP_016862036.1:p.Thr27Ala, XP_047304205.1:p.Thr27Ala, XP_047304208.1:p.Thr27Ala, XP_047304204.1:p.Thr27Ala

Select item 141140194913.

rs1411401949 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:50560924 (GRCh38)
3:50598355 (GRCh37)
Canonical SPDI:: NC_000003.12:50560923:T:G
Gene:: C3orf18 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.50560924T>G, NC_000003.11:g.50598355T>G, NM_016210.5:c.401A>C, NM_016210.4:c.401A>C, XM_011533781.3:c.623A>C, XM_011533781.2:c.623A>C, XM_011533781.1:c.623A>C, XM_011533782.3:c.413A>C, XM_011533782.2:c.413A>C, XM_011533782.1:c.413A>C, XM_011533783.3:c.413A>C, XM_011533783.2:c.413A>C, XM_011533783.1:c.413A>C, NM_001171740.3:c.401A>C, NM_001171740.2:c.401A>C, XM_011533784.3:c.413A>C, XM_011533784.2:c.413A>C, XM_011533784.1:c.413A>C, XM_011533785.3:c.413A>C, XM_011533785.2:c.413A>C, XM_011533785.1:c.413A>C, NM_001171741.3:c.401A>C, NM_001171741.2:c.401A>C, NM_001171743.3:c.341A>C, NM_001171743.2:c.341A>C, XM_011533790.2:c.341A>C, XM_011533790.1:c.341A>C, XM_017006547.2:c.341A>C, XM_017006547.1:c.341A>C, XM_047448249.1:c.401A>C, XM_047448252.1:c.341A>C, XM_047448248.1:c.413A>C, NP_057294.2:p.Gln134Pro, XP_011532083.1:p.Gln208Pro, XP_011532084.1:p.Gln138Pro, XP_011532085.1:p.Gln138Pro, NP_001165211.1:p.Gln134Pro, XP_011532086.1:p.Gln138Pro, XP_011532087.1:p.Gln138Pro, NP_001165212.1:p.Gln134Pro, NP_001165214.2:p.Gln114Pro, XP_011532092.1:p.Gln114Pro, XP_016862036.1:p.Gln114Pro, XP_047304205.1:p.Gln134Pro, XP_047304208.1:p.Gln114Pro, XP_047304204.1:p.Gln138Pro

Select item 140799129314.

rs1407991293 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:50561055 (GRCh38)
3:50598486 (GRCh37)
Canonical SPDI:: NC_000003.12:50561054:C:G,NC_000003.12:50561054:C:T
Gene:: C3orf18 (Varview)
Functional Consequence:: missense_variant,synonymous_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.50561055C>G, NC_000003.12:g.50561055C>T, NC_000003.11:g.50598486C>G, NC_000003.11:g.50598486C>T, NM_016210.5:c.270G>C, NM_016210.5:c.270G>A, NM_016210.4:c.270G>C, NM_016210.4:c.270G>A, XM_011533781.3:c.492G>C, XM_011533781.3:c.492G>A, XM_011533781.2:c.492G>C, XM_011533781.2:c.492G>A, XM_011533781.1:c.492G>C, XM_011533781.1:c.492G>A, XM_011533782.3:c.282G>C, XM_011533782.3:c.282G>A, XM_011533782.2:c.282G>C, XM_011533782.2:c.282G>A, XM_011533782.1:c.282G>C, XM_011533782.1:c.282G>A, XM_011533783.3:c.282G>C, XM_011533783.3:c.282G>A, XM_011533783.2:c.282G>C, XM_011533783.2:c.282G>A, XM_011533783.1:c.282G>C, XM_011533783.1:c.282G>A, NM_001171740.3:c.270G>C, NM_001171740.3:c.270G>A, NM_001171740.2:c.270G>C, NM_001171740.2:c.270G>A, XM_011533784.3:c.282G>C, XM_011533784.3:c.282G>A, XM_011533784.2:c.282G>C, XM_011533784.2:c.282G>A, XM_011533784.1:c.282G>C, XM_011533784.1:c.282G>A, XM_011533785.3:c.282G>C, XM_011533785.3:c.282G>A, XM_011533785.2:c.282G>C, XM_011533785.2:c.282G>A, XM_011533785.1:c.282G>C, XM_011533785.1:c.282G>A, NM_001171741.3:c.270G>C, NM_001171741.3:c.270G>A, NM_001171741.2:c.270G>C, NM_001171741.2:c.270G>A, NM_001171743.3:c.210G>C, NM_001171743.3:c.210G>A, NM_001171743.2:c.210G>C, NM_001171743.2:c.210G>A, XM_011533790.2:c.210G>C, XM_011533790.2:c.210G>A, XM_011533790.1:c.210G>C, XM_011533790.1:c.210G>A, XM_017006547.2:c.210G>C, XM_017006547.2:c.210G>A, XM_017006547.1:c.210G>C, XM_017006547.1:c.210G>A, XM_047448249.1:c.270G>C, XM_047448249.1:c.270G>A, XM_047448252.1:c.210G>C, XM_047448252.1:c.210G>A, XM_047448248.1:c.282G>C, XM_047448248.1:c.282G>A, NP_057294.2:p.Lys90Asn, XP_011532083.1:p.Lys164Asn, XP_011532084.1:p.Lys94Asn, XP_011532085.1:p.Lys94Asn, NP_001165211.1:p.Lys90Asn, XP_011532086.1:p.Lys94Asn, XP_011532087.1:p.Lys94Asn, NP_001165212.1:p.Lys90Asn, NP_001165214.2:p.Lys70Asn, XP_011532092.1:p.Lys70Asn, XP_016862036.1:p.Lys70Asn, XP_047304205.1:p.Lys90Asn, XP_047304208.1:p.Lys70Asn, XP_047304204.1:p.Lys94Asn

Select item 140525436415.

rs1405254364 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:50559672 (GRCh38)
3:50597103 (GRCh37)
Canonical SPDI:: NC_000003.12:50559671:A:C
Gene:: C3orf18 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.50559672A>C, NC_000003.11:g.50597103A>C, NM_016210.5:c.474T>G, NM_016210.4:c.474T>G, XM_011533781.3:c.696T>G, XM_011533781.2:c.696T>G, XM_011533781.1:c.696T>G, XM_011533782.3:c.486T>G, XM_011533782.2:c.486T>G, XM_011533782.1:c.486T>G, XM_011533783.3:c.486T>G, XM_011533783.2:c.486T>G, XM_011533783.1:c.486T>G, NM_001171740.3:c.474T>G, NM_001171740.2:c.474T>G, XM_011533784.3:c.486T>G, XM_011533784.2:c.486T>G, XM_011533784.1:c.486T>G, XM_011533785.3:c.486T>G, XM_011533785.2:c.486T>G, XM_011533785.1:c.486T>G, NM_001171741.3:c.474T>G, NM_001171741.2:c.474T>G, NM_001171743.3:c.414T>G, NM_001171743.2:c.414T>G, XM_011533790.2:c.414T>G, XM_011533790.1:c.414T>G, XM_017006547.2:c.414T>G, XM_017006547.1:c.414T>G, XM_017006546.2:c.-526T>G, XM_017006546.1:c.-526T>G, XM_011533789.2:c.-526T>G, XM_011533789.1:c.-526T>G, XM_047448249.1:c.474T>G, XM_047448252.1:c.414T>G, XM_047448248.1:c.486T>G, XM_047448250.1:c.-526T>G, NP_057294.2:p.Asn158Lys, XP_011532083.1:p.Asn232Lys, XP_011532084.1:p.Asn162Lys, XP_011532085.1:p.Asn162Lys, NP_001165211.1:p.Asn158Lys, XP_011532086.1:p.Asn162Lys, XP_011532087.1:p.Asn162Lys, NP_001165212.1:p.Asn158Lys, NP_001165214.2:p.Asn138Lys, XP_011532092.1:p.Asn138Lys, XP_016862036.1:p.Asn138Lys, XP_047304205.1:p.Asn158Lys, XP_047304208.1:p.Asn138Lys, XP_047304204.1:p.Asn162Lys

Select item 139646283716.

rs1396462837 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:50559677 (GRCh38)
3:50597108 (GRCh37)
Canonical SPDI:: NC_000003.12:50559676:C:G,NC_000003.12:50559676:C:T
Gene:: C3orf18 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.50559677C>G, NC_000003.12:g.50559677C>T, NC_000003.11:g.50597108C>G, NC_000003.11:g.50597108C>T, NM_016210.5:c.469G>C, NM_016210.5:c.469G>A, NM_016210.4:c.469G>C, NM_016210.4:c.469G>A, XM_011533781.3:c.691G>C, XM_011533781.3:c.691G>A, XM_011533781.2:c.691G>C, XM_011533781.2:c.691G>A, XM_011533781.1:c.691G>C, XM_011533781.1:c.691G>A, XM_011533782.3:c.481G>C, XM_011533782.3:c.481G>A, XM_011533782.2:c.481G>C, XM_011533782.2:c.481G>A, XM_011533782.1:c.481G>C, XM_011533782.1:c.481G>A, XM_011533783.3:c.481G>C, XM_011533783.3:c.481G>A, XM_011533783.2:c.481G>C, XM_011533783.2:c.481G>A, XM_011533783.1:c.481G>C, XM_011533783.1:c.481G>A, NM_001171740.3:c.469G>C, NM_001171740.3:c.469G>A, NM_001171740.2:c.469G>C, NM_001171740.2:c.469G>A, XM_011533784.3:c.481G>C, XM_011533784.3:c.481G>A, XM_011533784.2:c.481G>C, XM_011533784.2:c.481G>A, XM_011533784.1:c.481G>C, XM_011533784.1:c.481G>A, XM_011533785.3:c.481G>C, XM_011533785.3:c.481G>A, XM_011533785.2:c.481G>C, XM_011533785.2:c.481G>A, XM_011533785.1:c.481G>C, XM_011533785.1:c.481G>A, NM_001171741.3:c.469G>C, NM_001171741.3:c.469G>A, NM_001171741.2:c.469G>C, NM_001171741.2:c.469G>A, NM_001171743.3:c.409G>C, NM_001171743.3:c.409G>A, NM_001171743.2:c.409G>C, NM_001171743.2:c.409G>A, XM_011533790.2:c.409G>C, XM_011533790.2:c.409G>A, XM_011533790.1:c.409G>C, XM_011533790.1:c.409G>A, XM_017006547.2:c.409G>C, XM_017006547.2:c.409G>A, XM_017006547.1:c.409G>C, XM_017006547.1:c.409G>A, XM_017006546.2:c.-531G>C, XM_017006546.2:c.-531G>A, XM_017006546.1:c.-531G>C, XM_017006546.1:c.-531G>A, XM_011533789.2:c.-531G>C, XM_011533789.2:c.-531G>A, XM_011533789.1:c.-531G>C, XM_011533789.1:c.-531G>A, XM_047448249.1:c.469G>C, XM_047448249.1:c.469G>A, XM_047448252.1:c.409G>C, XM_047448252.1:c.409G>A, XM_047448248.1:c.481G>C, XM_047448248.1:c.481G>A, XM_047448250.1:c.-531G>C, XM_047448250.1:c.-531G>A, NP_057294.2:p.Ala157Pro, NP_057294.2:p.Ala157Thr, XP_011532083.1:p.Ala231Pro, XP_011532083.1:p.Ala231Thr, XP_011532084.1:p.Ala161Pro, XP_011532084.1:p.Ala161Thr, XP_011532085.1:p.Ala161Pro, XP_011532085.1:p.Ala161Thr, NP_001165211.1:p.Ala157Pro, NP_001165211.1:p.Ala157Thr, XP_011532086.1:p.Ala161Pro, XP_011532086.1:p.Ala161Thr, XP_011532087.1:p.Ala161Pro, XP_011532087.1:p.Ala161Thr, NP_001165212.1:p.Ala157Pro, NP_001165212.1:p.Ala157Thr, NP_001165214.2:p.Ala137Pro, NP_001165214.2:p.Ala137Thr, XP_011532092.1:p.Ala137Pro, XP_011532092.1:p.Ala137Thr, XP_016862036.1:p.Ala137Pro, XP_016862036.1:p.Ala137Thr, XP_047304205.1:p.Ala157Pro, XP_047304205.1:p.Ala157Thr, XP_047304208.1:p.Ala137Pro, XP_047304208.1:p.Ala137Thr, XP_047304204.1:p.Ala161Pro, XP_047304204.1:p.Ala161Thr

Select item 139446668917.

rs1394466689 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:50559706 (GRCh38)
3:50597137 (GRCh37)
Canonical SPDI:: NC_000003.12:50559705:C:G,NC_000003.12:50559705:C:T
Gene:: C3orf18 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.50559706C>G, NC_000003.12:g.50559706C>T, NC_000003.11:g.50597137C>G, NC_000003.11:g.50597137C>T, NM_016210.5:c.440G>C, NM_016210.5:c.440G>A, NM_016210.4:c.440G>C, NM_016210.4:c.440G>A, XM_011533781.3:c.662G>C, XM_011533781.3:c.662G>A, XM_011533781.2:c.662G>C, XM_011533781.2:c.662G>A, XM_011533781.1:c.662G>C, XM_011533781.1:c.662G>A, XM_011533782.3:c.452G>C, XM_011533782.3:c.452G>A, XM_011533782.2:c.452G>C, XM_011533782.2:c.452G>A, XM_011533782.1:c.452G>C, XM_011533782.1:c.452G>A, XM_011533783.3:c.452G>C, XM_011533783.3:c.452G>A, XM_011533783.2:c.452G>C, XM_011533783.2:c.452G>A, XM_011533783.1:c.452G>C, XM_011533783.1:c.452G>A, NM_001171740.3:c.440G>C, NM_001171740.3:c.440G>A, NM_001171740.2:c.440G>C, NM_001171740.2:c.440G>A, XM_011533784.3:c.452G>C, XM_011533784.3:c.452G>A, XM_011533784.2:c.452G>C, XM_011533784.2:c.452G>A, XM_011533784.1:c.452G>C, XM_011533784.1:c.452G>A, XM_011533785.3:c.452G>C, XM_011533785.3:c.452G>A, XM_011533785.2:c.452G>C, XM_011533785.2:c.452G>A, XM_011533785.1:c.452G>C, XM_011533785.1:c.452G>A, NM_001171741.3:c.440G>C, NM_001171741.3:c.440G>A, NM_001171741.2:c.440G>C, NM_001171741.2:c.440G>A, NM_001171743.3:c.380G>C, NM_001171743.3:c.380G>A, NM_001171743.2:c.380G>C, NM_001171743.2:c.380G>A, XM_011533790.2:c.380G>C, XM_011533790.2:c.380G>A, XM_011533790.1:c.380G>C, XM_011533790.1:c.380G>A, XM_017006547.2:c.380G>C, XM_017006547.2:c.380G>A, XM_017006547.1:c.380G>C, XM_017006547.1:c.380G>A, XM_017006546.2:c.-560G>C, XM_017006546.2:c.-560G>A, XM_017006546.1:c.-560G>C, XM_017006546.1:c.-560G>A, XM_011533789.2:c.-560G>C, XM_011533789.2:c.-560G>A, XM_011533789.1:c.-560G>C, XM_011533789.1:c.-560G>A, XM_047448249.1:c.440G>C, XM_047448249.1:c.440G>A, XM_047448252.1:c.380G>C, XM_047448252.1:c.380G>A, XM_047448248.1:c.452G>C, XM_047448248.1:c.452G>A, XM_047448250.1:c.-560G>C, XM_047448250.1:c.-560G>A, NP_057294.2:p.Arg147Thr, NP_057294.2:p.Arg147Lys, XP_011532083.1:p.Arg221Thr, XP_011532083.1:p.Arg221Lys, XP_011532084.1:p.Arg151Thr, XP_011532084.1:p.Arg151Lys, XP_011532085.1:p.Arg151Thr, XP_011532085.1:p.Arg151Lys, NP_001165211.1:p.Arg147Thr, NP_001165211.1:p.Arg147Lys, XP_011532086.1:p.Arg151Thr, XP_011532086.1:p.Arg151Lys, XP_011532087.1:p.Arg151Thr, XP_011532087.1:p.Arg151Lys, NP_001165212.1:p.Arg147Thr, NP_001165212.1:p.Arg147Lys, NP_001165214.2:p.Arg127Thr, NP_001165214.2:p.Arg127Lys, XP_011532092.1:p.Arg127Thr, XP_011532092.1:p.Arg127Lys, XP_016862036.1:p.Arg127Thr, XP_016862036.1:p.Arg127Lys, XP_047304205.1:p.Arg147Thr, XP_047304205.1:p.Arg147Lys, XP_047304208.1:p.Arg127Thr, XP_047304208.1:p.Arg127Lys, XP_047304204.1:p.Arg151Thr, XP_047304204.1:p.Arg151Lys

Select item 139286785018.

rs1392867850 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:50565546 (GRCh38)
3:50602977 (GRCh37)
Canonical SPDI:: NC_000003.12:50565545:C:G,NC_000003.12:50565545:C:T
Gene:: C3orf18 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.50565546C>G, NC_000003.12:g.50565546C>T, NC_000003.11:g.50602977C>G, NC_000003.11:g.50602977C>T, NM_016210.5:c.154G>C, NM_016210.5:c.154G>A, NM_016210.4:c.154G>C, NM_016210.4:c.154G>A, XM_011533782.3:c.154G>C, XM_011533782.3:c.154G>A, XM_011533782.2:c.154G>C, XM_011533782.2:c.154G>A, XM_011533782.1:c.154G>C, XM_011533782.1:c.154G>A, XM_011533783.3:c.154G>C, XM_011533783.3:c.154G>A, XM_011533783.2:c.154G>C, XM_011533783.2:c.154G>A, XM_011533783.1:c.154G>C, XM_011533783.1:c.154G>A, NM_001171740.3:c.154G>C, NM_001171740.3:c.154G>A, NM_001171740.2:c.154G>C, NM_001171740.2:c.154G>A, XM_011533784.3:c.154G>C, XM_011533784.3:c.154G>A, XM_011533784.2:c.154G>C, XM_011533784.2:c.154G>A, XM_011533784.1:c.154G>C, XM_011533784.1:c.154G>A, XM_011533785.3:c.154G>C, XM_011533785.3:c.154G>A, XM_011533785.2:c.154G>C, XM_011533785.2:c.154G>A, XM_011533785.1:c.154G>C, XM_011533785.1:c.154G>A, NM_001171741.3:c.154G>C, NM_001171741.3:c.154G>A, NM_001171741.2:c.154G>C, NM_001171741.2:c.154G>A, NM_001171743.3:c.154G>C, NM_001171743.3:c.154G>A, NM_001171743.2:c.154G>C, NM_001171743.2:c.154G>A, XM_011533790.2:c.154G>C, XM_011533790.2:c.154G>A, XM_011533790.1:c.154G>C, XM_011533790.1:c.154G>A, XM_017006547.2:c.154G>C, XM_017006547.2:c.154G>A, XM_017006547.1:c.154G>C, XM_017006547.1:c.154G>A, XM_047448249.1:c.154G>C, XM_047448249.1:c.154G>A, XM_047448252.1:c.154G>C, XM_047448252.1:c.154G>A, XM_047448248.1:c.154G>C, XM_047448248.1:c.154G>A, NP_057294.2:p.Ala52Pro, NP_057294.2:p.Ala52Thr, XP_011532084.1:p.Ala52Pro, XP_011532084.1:p.Ala52Thr, XP_011532085.1:p.Ala52Pro, XP_011532085.1:p.Ala52Thr, NP_001165211.1:p.Ala52Pro, NP_001165211.1:p.Ala52Thr, XP_011532086.1:p.Ala52Pro, XP_011532086.1:p.Ala52Thr, XP_011532087.1:p.Ala52Pro, XP_011532087.1:p.Ala52Thr, NP_001165212.1:p.Ala52Pro, NP_001165212.1:p.Ala52Thr, NP_001165214.2:p.Ala52Pro, NP_001165214.2:p.Ala52Thr, XP_011532092.1:p.Ala52Pro, XP_011532092.1:p.Ala52Thr, XP_016862036.1:p.Ala52Pro, XP_016862036.1:p.Ala52Thr, XP_047304205.1:p.Ala52Pro, XP_047304205.1:p.Ala52Thr, XP_047304208.1:p.Ala52Pro, XP_047304208.1:p.Ala52Thr, XP_047304204.1:p.Ala52Pro, XP_047304204.1:p.Ala52Thr

Select item 138951170919.

rs1389511709 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:50565475 (GRCh38)
3:50602906 (GRCh37)
Canonical SPDI:: NC_000003.12:50565474:A:G
Gene:: C3orf18 (Varview)
Functional Consequence:: synonymous_variant,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.50565475A>G, NC_000003.11:g.50602906A>G, NM_016210.5:c.225T>C, NM_016210.4:c.225T>C, XM_011533782.3:c.225T>C, XM_011533782.2:c.225T>C, XM_011533782.1:c.225T>C, XM_011533783.3:c.225T>C, XM_011533783.2:c.225T>C, XM_011533783.1:c.225T>C, NM_001171740.3:c.225T>C, NM_001171740.2:c.225T>C, XM_011533784.3:c.225T>C, XM_011533784.2:c.225T>C, XM_011533784.1:c.225T>C, XM_011533785.3:c.225T>C, XM_011533785.2:c.225T>C, XM_011533785.1:c.225T>C, NM_001171741.3:c.225T>C, NM_001171741.2:c.225T>C, XM_047448249.1:c.225T>C, XM_047448248.1:c.225T>C

Select item 138856111920.

rs1388561119 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:50560921 (GRCh38)
3:50598352 (GRCh37)
Canonical SPDI:: NC_000003.12:50560920:C:A
Gene:: C3orf18 (Varview)
Functional Consequence:: missense_variant,intron_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.50560921C>A, NC_000003.11:g.50598352C>A, NM_016210.5:c.404G>T, NM_016210.4:c.404G>T, XM_011533781.3:c.626G>T, XM_011533781.2:c.626G>T, XM_011533781.1:c.626G>T, XM_011533782.3:c.416G>T, XM_011533782.2:c.416G>T, XM_011533782.1:c.416G>T, XM_011533783.3:c.416G>T, XM_011533783.2:c.416G>T, XM_011533783.1:c.416G>T, NM_001171740.3:c.404G>T, NM_001171740.2:c.404G>T, XM_011533784.3:c.416G>T, XM_011533784.2:c.416G>T, XM_011533784.1:c.416G>T, XM_011533785.3:c.416G>T, XM_011533785.2:c.416G>T, XM_011533785.1:c.416G>T, NM_001171741.3:c.404G>T, NM_001171741.2:c.404G>T, NM_001171743.3:c.344G>T, NM_001171743.2:c.344G>T, XM_011533790.2:c.344G>T, XM_011533790.1:c.344G>T, XM_017006547.2:c.344G>T, XM_017006547.1:c.344G>T, XM_047448249.1:c.404G>T, XM_047448252.1:c.344G>T, XM_047448248.1:c.416G>T, NP_057294.2:p.Gly135Val, XP_011532083.1:p.Gly209Val, XP_011532084.1:p.Gly139Val, XP_011532085.1:p.Gly139Val, NP_001165211.1:p.Gly135Val, XP_011532086.1:p.Gly139Val, XP_011532087.1:p.Gly139Val, NP_001165212.1:p.Gly135Val, NP_001165214.2:p.Gly115Val, XP_011532092.1:p.Gly115Val, XP_016862036.1:p.Gly115Val, XP_047304205.1:p.Gly135Val, XP_047304208.1:p.Gly115Val, XP_047304204.1:p.Gly139Val

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