SNP Links for Protein (Select 152963635) - SNP

Select item 14912830551.

rs1491283055 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 19:34944821 (GRCh38)
19:35435725 (GRCh37)
Canonical SPDI:: NC_000019.10:34944818:ATAT:AT
Gene:: ZNF30 (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATAT=0./0 (ALFA)
-=0.000064/9 (GnomAD)
-=0.000072/19 (TOPMED)
-=0.000083/1 (GoESP)
-=0.000099/24 (GnomAD_exomes)
-=0.000121/13 (ExAC)
HGVS:: NC_000019.10:g.34944819AT[1], NC_000019.9:g.35435723AT[1], XM_011527443.3:c.1858_1859del, XM_011527443.2:c.1858_1859del, XM_011527443.1:c.1858_1859del, NM_194325.3:c.1855_1856del, NM_194325.2:c.1855_1856del, XM_017027426.2:c.1855_1856del, XM_017027426.1:c.1855_1856del, NR_024018.2:n.2311AT[1], NR_024018.1:n.2311AT[1], NM_001099438.2:c.1858_1859del, NM_001099438.1:c.1858_1859del, XM_017027425.2:c.1855_1856del, XM_017027425.1:c.1855_1856del, NM_001099437.2:c.1858_1859del, NM_001099437.1:c.1858_1859del, XM_017027424.2:c.1858_1859del, XM_017027424.1:c.1858_1859del, XM_011527444.2:c.1858_1859del, XM_011527444.1:c.1858_1859del, XM_047439607.1:c.1612_1613del, XP_011525745.1:p.Met620fs, NP_919306.2:p.Met619fs, XP_016882915.1:p.Met619fs, NP_001092908.1:p.Met620fs, XP_016882914.1:p.Met619fs, NP_001092907.1:p.Met620fs, XP_016882913.1:p.Met620fs, XP_011525746.1:p.Met620fs, XP_047295563.1:p.Met538fs

Select item 14903751562.

rs1490375156 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:34943308 (GRCh38)
19:35434212 (GRCh37)
Canonical SPDI:: NC_000019.10:34943307:A:G
Gene:: ZNF30 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.34943308A>G, NC_000019.9:g.35434212A>G, XM_011527443.3:c.345A>G, XM_011527443.2:c.345A>G, XM_011527443.1:c.345A>G, NM_194325.3:c.342A>G, NM_194325.2:c.342A>G, XM_017027426.2:c.342A>G, XM_017027426.1:c.342A>G, NR_024018.2:n.800A>G, NR_024018.1:n.800A>G, NM_001099438.2:c.345A>G, NM_001099438.1:c.345A>G, XM_017027425.2:c.342A>G, XM_017027425.1:c.342A>G, NM_001099437.2:c.345A>G, NM_001099437.1:c.345A>G, XM_017027424.2:c.345A>G, XM_017027424.1:c.345A>G, XM_011527444.2:c.345A>G, XM_011527444.1:c.345A>G, XM_047439607.1:c.99A>G, XP_011525745.1:p.Ile115Met, NP_919306.2:p.Ile114Met, XP_016882915.1:p.Ile114Met, NP_001092908.1:p.Ile115Met, XP_016882914.1:p.Ile114Met, NP_001092907.1:p.Ile115Met, XP_016882913.1:p.Ile115Met, XP_011525746.1:p.Ile115Met, XP_047295563.1:p.Ile33Met

Select item 14899823683.

rs1489982368 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:34944562 (GRCh38)
19:35435466 (GRCh37)
Canonical SPDI:: NC_000019.10:34944561:A:G
Gene:: ZNF30 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by cluster
HGVS:: NC_000019.10:g.34944562A>G, NC_000019.9:g.35435466A>G, XM_011527443.3:c.1599A>G, XM_011527443.2:c.1599A>G, XM_011527443.1:c.1599A>G, NM_194325.3:c.1596A>G, NM_194325.2:c.1596A>G, XM_017027426.2:c.1596A>G, XM_017027426.1:c.1596A>G, NR_024018.2:n.2054A>G, NR_024018.1:n.2054A>G, NM_001099438.2:c.1599A>G, NM_001099438.1:c.1599A>G, XM_017027425.2:c.1596A>G, XM_017027425.1:c.1596A>G, NM_001099437.2:c.1599A>G, NM_001099437.1:c.1599A>G, XM_017027424.2:c.1599A>G, XM_017027424.1:c.1599A>G, XM_011527444.2:c.1599A>G, XM_011527444.1:c.1599A>G, XM_047439607.1:c.1353A>G

Select item 14899359954.

rs1489935995 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:34944365 (GRCh38)
19:35435269 (GRCh37)
Canonical SPDI:: NC_000019.10:34944364:G:A
Gene:: ZNF30 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
A=0.000177/3 (TOMMO)
A=0.000342/1 (KOREAN)
HGVS:: NC_000019.10:g.34944365G>A, NC_000019.9:g.35435269G>A, XM_011527443.3:c.1402G>A, XM_011527443.2:c.1402G>A, XM_011527443.1:c.1402G>A, NM_194325.3:c.1399G>A, NM_194325.2:c.1399G>A, XM_017027426.2:c.1399G>A, XM_017027426.1:c.1399G>A, NR_024018.2:n.1857G>A, NR_024018.1:n.1857G>A, NM_001099438.2:c.1402G>A, NM_001099438.1:c.1402G>A, XM_017027425.2:c.1399G>A, XM_017027425.1:c.1399G>A, NM_001099437.2:c.1402G>A, NM_001099437.1:c.1402G>A, XM_017027424.2:c.1402G>A, XM_017027424.1:c.1402G>A, XM_011527444.2:c.1402G>A, XM_011527444.1:c.1402G>A, XM_047439607.1:c.1156G>A, XP_011525745.1:p.Val468Met, NP_919306.2:p.Val467Met, XP_016882915.1:p.Val467Met, NP_001092908.1:p.Val468Met, XP_016882914.1:p.Val467Met, NP_001092907.1:p.Val468Met, XP_016882913.1:p.Val468Met, XP_011525746.1:p.Val468Met, XP_047295563.1:p.Val386Met

Select item 14896698725.

rs1489669872 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 19:34944731 (GRCh38)
19:35435635 (GRCh37)
Canonical SPDI:: NC_000019.10:34944730:G:A,NC_000019.10:34944730:G:T
Gene:: ZNF30 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.34944731G>A, NC_000019.10:g.34944731G>T, NC_000019.9:g.35435635G>A, NC_000019.9:g.35435635G>T, XM_011527443.3:c.1768G>A, XM_011527443.3:c.1768G>T, XM_011527443.2:c.1768G>A, XM_011527443.2:c.1768G>T, XM_011527443.1:c.1768G>A, XM_011527443.1:c.1768G>T, NM_194325.3:c.1765G>A, NM_194325.3:c.1765G>T, NM_194325.2:c.1765G>A, NM_194325.2:c.1765G>T, XM_017027426.2:c.1765G>A, XM_017027426.2:c.1765G>T, XM_017027426.1:c.1765G>A, XM_017027426.1:c.1765G>T, NR_024018.2:n.2223G>A, NR_024018.2:n.2223G>T, NR_024018.1:n.2223G>A, NR_024018.1:n.2223G>T, NM_001099438.2:c.1768G>A, NM_001099438.2:c.1768G>T, NM_001099438.1:c.1768G>A, NM_001099438.1:c.1768G>T, XM_017027425.2:c.1765G>A, XM_017027425.2:c.1765G>T, XM_017027425.1:c.1765G>A, XM_017027425.1:c.1765G>T, NM_001099437.2:c.1768G>A, NM_001099437.2:c.1768G>T, NM_001099437.1:c.1768G>A, NM_001099437.1:c.1768G>T, XM_017027424.2:c.1768G>A, XM_017027424.2:c.1768G>T, XM_017027424.1:c.1768G>A, XM_017027424.1:c.1768G>T, XM_011527444.2:c.1768G>A, XM_011527444.2:c.1768G>T, XM_011527444.1:c.1768G>A, XM_011527444.1:c.1768G>T, XM_047439607.1:c.1522G>A, XM_047439607.1:c.1522G>T, XP_011525745.1:p.Val590Ile, XP_011525745.1:p.Val590Leu, NP_919306.2:p.Val589Ile, NP_919306.2:p.Val589Leu, XP_016882915.1:p.Val589Ile, XP_016882915.1:p.Val589Leu, NP_001092908.1:p.Val590Ile, NP_001092908.1:p.Val590Leu, XP_016882914.1:p.Val589Ile, XP_016882914.1:p.Val589Leu, NP_001092907.1:p.Val590Ile, NP_001092907.1:p.Val590Leu, XP_016882913.1:p.Val590Ile, XP_016882913.1:p.Val590Leu, XP_011525746.1:p.Val590Ile, XP_011525746.1:p.Val590Leu, XP_047295563.1:p.Val508Ile, XP_047295563.1:p.Val508Leu

Select item 14855186146.

rs1485518614 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:34943422 (GRCh38)
19:35434326 (GRCh37)
Canonical SPDI:: NC_000019.10:34943421:A:G
Gene:: ZNF30 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.34943422A>G, NC_000019.9:g.35434326A>G, XM_011527443.3:c.459A>G, XM_011527443.2:c.459A>G, XM_011527443.1:c.459A>G, NM_194325.3:c.456A>G, NM_194325.2:c.456A>G, XM_017027426.2:c.456A>G, XM_017027426.1:c.456A>G, NR_024018.2:n.914A>G, NR_024018.1:n.914A>G, NM_001099438.2:c.459A>G, NM_001099438.1:c.459A>G, XM_017027425.2:c.456A>G, XM_017027425.1:c.456A>G, NM_001099437.2:c.459A>G, NM_001099437.1:c.459A>G, XM_017027424.2:c.459A>G, XM_017027424.1:c.459A>G, XM_011527444.2:c.459A>G, XM_011527444.1:c.459A>G, XM_047439607.1:c.213A>G

Select item 14851007167.

rs1485100716 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:34944129 (GRCh38)
19:35435033 (GRCh37)
Canonical SPDI:: NC_000019.10:34944128:T:C
Gene:: ZNF30 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0./0 (KOREAN)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.34944129T>C, NC_000019.9:g.35435033T>C, XM_011527443.3:c.1166T>C, XM_011527443.2:c.1166T>C, XM_011527443.1:c.1166T>C, NM_194325.3:c.1163T>C, NM_194325.2:c.1163T>C, XM_017027426.2:c.1163T>C, XM_017027426.1:c.1163T>C, NR_024018.2:n.1621T>C, NR_024018.1:n.1621T>C, NM_001099438.2:c.1166T>C, NM_001099438.1:c.1166T>C, XM_017027425.2:c.1163T>C, XM_017027425.1:c.1163T>C, NM_001099437.2:c.1166T>C, NM_001099437.1:c.1166T>C, XM_017027424.2:c.1166T>C, XM_017027424.1:c.1166T>C, XM_011527444.2:c.1166T>C, XM_011527444.1:c.1166T>C, XM_047439607.1:c.920T>C, XP_011525745.1:p.Val389Ala, NP_919306.2:p.Val388Ala, XP_016882915.1:p.Val388Ala, NP_001092908.1:p.Val389Ala, XP_016882914.1:p.Val388Ala, NP_001092907.1:p.Val389Ala, XP_016882913.1:p.Val389Ala, XP_011525746.1:p.Val389Ala, XP_047295563.1:p.Val307Ala

Select item 14841315058.

rs1484131505 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:34944298 (GRCh38)
19:35435202 (GRCh37)
Canonical SPDI:: NC_000019.10:34944297:C:T
Gene:: ZNF30 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000056/2 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000015/2 (GnomAD)
T=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.34944298C>T, NC_000019.9:g.35435202C>T, XM_011527443.3:c.1335C>T, XM_011527443.2:c.1335C>T, XM_011527443.1:c.1335C>T, NM_194325.3:c.1332C>T, NM_194325.2:c.1332C>T, XM_017027426.2:c.1332C>T, XM_017027426.1:c.1332C>T, NR_024018.2:n.1790C>T, NR_024018.1:n.1790C>T, NM_001099438.2:c.1335C>T, NM_001099438.1:c.1335C>T, XM_017027425.2:c.1332C>T, XM_017027425.1:c.1332C>T, NM_001099437.2:c.1335C>T, NM_001099437.1:c.1335C>T, XM_017027424.2:c.1335C>T, XM_017027424.1:c.1335C>T, XM_011527444.2:c.1335C>T, XM_011527444.1:c.1335C>T, XM_047439607.1:c.1089C>T

Select item 14833149429.

rs1483314942 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCAA>- [Show Flanks]
Chromosome:: 19:34943449 (GRCh38)
19:35434353 (GRCh37)
Canonical SPDI:: NC_000019.10:34943447:ATCAA:A
Gene:: ZNF30 (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.34943449_34943452del, NC_000019.9:g.35434353_35434356del, XM_011527443.3:c.486_489del, XM_011527443.2:c.486_489del, XM_011527443.1:c.486_489del, NM_194325.3:c.483_486del, NM_194325.2:c.483_486del, XM_017027426.2:c.483_486del, XM_017027426.1:c.483_486del, NR_024018.2:n.941_944del, NR_024018.1:n.941_944del, NM_001099438.2:c.486_489del, NM_001099438.1:c.486_489del, XM_017027425.2:c.483_486del, XM_017027425.1:c.483_486del, NM_001099437.2:c.486_489del, NM_001099437.1:c.486_489del, XM_017027424.2:c.486_489del, XM_017027424.1:c.486_489del, XM_011527444.2:c.486_489del, XM_011527444.1:c.486_489del, XM_047439607.1:c.240_243del, XP_011525745.1:p.Gln163fs, NP_919306.2:p.Gln162fs, XP_016882915.1:p.Gln162fs, NP_001092908.1:p.Gln163fs, XP_016882914.1:p.Gln162fs, NP_001092907.1:p.Gln163fs, XP_016882913.1:p.Gln163fs, XP_011525746.1:p.Gln163fs, XP_047295563.1:p.Gln81fs

Select item 148322566510.

rs1483225665 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 19:34944021 (GRCh38)
19:35434925 (GRCh37)
Canonical SPDI:: NC_000019.10:34944020:CC:C
Gene:: ZNF30 (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.34944022del, NC_000019.9:g.35434926del, XM_011527443.3:c.1059del, XM_011527443.2:c.1059del, XM_011527443.1:c.1059del, NM_194325.3:c.1056del, NM_194325.2:c.1056del, XM_017027426.2:c.1056del, XM_017027426.1:c.1056del, NR_024018.2:n.1514del, NR_024018.1:n.1514del, NM_001099438.2:c.1059del, NM_001099438.1:c.1059del, XM_017027425.2:c.1056del, XM_017027425.1:c.1056del, NM_001099437.2:c.1059del, NM_001099437.1:c.1059del, XM_017027424.2:c.1059del, XM_017027424.1:c.1059del, XM_011527444.2:c.1059del, XM_011527444.1:c.1059del, XM_047439607.1:c.813del, XP_011525745.1:p.Phe354fs, NP_919306.2:p.Phe353fs, XP_016882915.1:p.Phe353fs, NP_001092908.1:p.Phe354fs, XP_016882914.1:p.Phe353fs, NP_001092907.1:p.Phe354fs, XP_016882913.1:p.Phe354fs, XP_011525746.1:p.Phe354fs, XP_047295563.1:p.Phe272fs

Select item 148296272511.

rs1482962725 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:34944833 (GRCh38)
19:35435737 (GRCh37)
Canonical SPDI:: NC_000019.10:34944832:C:T
Gene:: ZNF30 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.34944833C>T, NC_000019.9:g.35435737C>T, XM_011527443.3:c.1870C>T, XM_011527443.2:c.1870C>T, XM_011527443.1:c.1870C>T, NM_194325.3:c.1867C>T, NM_194325.2:c.1867C>T, XM_017027426.2:c.1867C>T, XM_017027426.1:c.1867C>T, NR_024018.2:n.2325C>T, NR_024018.1:n.2325C>T, NM_001099438.2:c.1870C>T, NM_001099438.1:c.1870C>T, XM_017027425.2:c.1867C>T, XM_017027425.1:c.1867C>T, NM_001099437.2:c.1870C>T, NM_001099437.1:c.1870C>T, XM_017027424.2:c.1870C>T, XM_017027424.1:c.1870C>T, XM_011527444.2:c.1870C>T, XM_011527444.1:c.1870C>T, XM_047439607.1:c.1624C>T, XP_011525745.1:p.Pro624Ser, NP_919306.2:p.Pro623Ser, XP_016882915.1:p.Pro623Ser, NP_001092908.1:p.Pro624Ser, XP_016882914.1:p.Pro623Ser, NP_001092907.1:p.Pro624Ser, XP_016882913.1:p.Pro624Ser, XP_011525746.1:p.Pro624Ser, XP_047295563.1:p.Pro542Ser

Select item 148072022212.

rs1480720222 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:34944727 (GRCh38)
19:35435631 (GRCh37)
Canonical SPDI:: NC_000019.10:34944726:G:A
Gene:: ZNF30 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.34944727G>A, NC_000019.9:g.35435631G>A, XM_011527443.3:c.1764G>A, XM_011527443.2:c.1764G>A, XM_011527443.1:c.1764G>A, NM_194325.3:c.1761G>A, NM_194325.2:c.1761G>A, XM_017027426.2:c.1761G>A, XM_017027426.1:c.1761G>A, NR_024018.2:n.2219G>A, NR_024018.1:n.2219G>A, NM_001099438.2:c.1764G>A, NM_001099438.1:c.1764G>A, XM_017027425.2:c.1761G>A, XM_017027425.1:c.1761G>A, NM_001099437.2:c.1764G>A, NM_001099437.1:c.1764G>A, XM_017027424.2:c.1764G>A, XM_017027424.1:c.1764G>A, XM_011527444.2:c.1764G>A, XM_011527444.1:c.1764G>A, XM_047439607.1:c.1518G>A

Select item 147869818613.

rs1478698186 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:34929953 (GRCh38)
19:35420857 (GRCh37)
Canonical SPDI:: NC_000019.10:34929952:C:G
Gene:: ZNF30 (Varview)
Functional Consequence:: non_coding_transcript_variant,genic_upstream_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.34929953C>G, NC_000019.9:g.35420857C>G, XM_011527443.3:c.6C>G, XM_011527443.2:c.6C>G, XM_011527443.1:c.6C>G, NM_194325.3:c.6C>G, NM_194325.2:c.6C>G, XM_017027426.2:c.6C>G, XM_017027426.1:c.6C>G, NR_024018.2:n.384C>G, NR_024018.1:n.384C>G, NM_001099438.2:c.6C>G, NM_001099438.1:c.6C>G, XM_017027425.2:c.6C>G, XM_017027425.1:c.6C>G, NM_001099437.2:c.6C>G, NM_001099437.1:c.6C>G, XM_017027424.2:c.6C>G, XM_017027424.1:c.6C>G, XM_011527444.2:c.6C>G, XM_011527444.1:c.6C>G

Select item 147759967114.

rs1477599671 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:34933627 (GRCh38)
19:35424531 (GRCh37)
Canonical SPDI:: NC_000019.10:34933626:G:A
Gene:: ZNF30 (Varview)
Functional Consequence:: splice_acceptor_variant,5_prime_UTR_variant,missense_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.34933627G>A, NC_000019.9:g.35424531G>A, XM_011527443.3:c.163G>A, XM_011527443.2:c.163G>A, XM_011527443.1:c.163G>A, NM_001099438.2:c.163G>A, NM_001099438.1:c.163G>A, NM_001099437.2:c.163G>A, NM_001099437.1:c.163G>A, XM_017027424.2:c.163G>A, XM_017027424.1:c.163G>A, XM_011527444.2:c.163G>A, XM_011527444.1:c.163G>A, XM_047439607.1:c.-164G>A, XP_011525745.1:p.Gly55Arg, NP_001092908.1:p.Gly55Arg, NP_001092907.1:p.Gly55Arg, XP_016882913.1:p.Gly55Arg, XP_011525746.1:p.Gly55Arg

Select item 147739199215.

rs1477391992 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:34944189 (GRCh38)
19:35435093 (GRCh37)
Canonical SPDI:: NC_000019.10:34944188:C:A
Gene:: ZNF30 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: A=0.0005/8 (TOMMO)
HGVS:: NC_000019.10:g.34944189C>A, NC_000019.9:g.35435093C>A, XM_011527443.3:c.1226C>A, XM_011527443.2:c.1226C>A, XM_011527443.1:c.1226C>A, NM_194325.3:c.1223C>A, NM_194325.2:c.1223C>A, XM_017027426.2:c.1223C>A, XM_017027426.1:c.1223C>A, NR_024018.2:n.1681C>A, NR_024018.1:n.1681C>A, NM_001099438.2:c.1226C>A, NM_001099438.1:c.1226C>A, XM_017027425.2:c.1223C>A, XM_017027425.1:c.1223C>A, NM_001099437.2:c.1226C>A, NM_001099437.1:c.1226C>A, XM_017027424.2:c.1226C>A, XM_017027424.1:c.1226C>A, XM_011527444.2:c.1226C>A, XM_011527444.1:c.1226C>A, XM_047439607.1:c.980C>A, XP_011525745.1:p.Ala409Asp, NP_919306.2:p.Ala408Asp, XP_016882915.1:p.Ala408Asp, NP_001092908.1:p.Ala409Asp, XP_016882914.1:p.Ala408Asp, NP_001092907.1:p.Ala409Asp, XP_016882913.1:p.Ala409Asp, XP_011525746.1:p.Ala409Asp, XP_047295563.1:p.Ala327Asp

Select item 147567651616.

rs1475676516 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:34943707 (GRCh38)
19:35434611 (GRCh37)
Canonical SPDI:: NC_000019.10:34943706:T:C
Gene:: ZNF30 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000094/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.34943707T>C, NC_000019.9:g.35434611T>C, XM_011527443.3:c.744T>C, XM_011527443.2:c.744T>C, XM_011527443.1:c.744T>C, NM_194325.3:c.741T>C, NM_194325.2:c.741T>C, XM_017027426.2:c.741T>C, XM_017027426.1:c.741T>C, NR_024018.2:n.1199T>C, NR_024018.1:n.1199T>C, NM_001099438.2:c.744T>C, NM_001099438.1:c.744T>C, XM_017027425.2:c.741T>C, XM_017027425.1:c.741T>C, NM_001099437.2:c.744T>C, NM_001099437.1:c.744T>C, XM_017027424.2:c.744T>C, XM_017027424.1:c.744T>C, XM_011527444.2:c.744T>C, XM_011527444.1:c.744T>C, XM_047439607.1:c.498T>C

Select item 147515084417.

rs1475150844 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->T [Show Flanks]
Chromosome:: 19:34944219 (GRCh38)
19:35435124 (GRCh37)
Canonical SPDI:: NC_000019.10:34944219:T:TT
Gene:: ZNF30 (Varview)
Functional Consequence:: non_coding_transcript_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TT=0./0 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000019.10:g.34944220dup, NC_000019.9:g.35435124dup, XM_011527443.3:c.1257dup, XM_011527443.2:c.1257dup, XM_011527443.1:c.1257dup, NM_194325.3:c.1254dup, NM_194325.2:c.1254dup, XM_017027426.2:c.1254dup, XM_017027426.1:c.1254dup, NR_024018.2:n.1712dup, NR_024018.1:n.1712dup, NM_001099438.2:c.1257dup, NM_001099438.1:c.1257dup, XM_017027425.2:c.1254dup, XM_017027425.1:c.1254dup, NM_001099437.2:c.1257dup, NM_001099437.1:c.1257dup, XM_017027424.2:c.1257dup, XM_017027424.1:c.1257dup, XM_011527444.2:c.1257dup, XM_011527444.1:c.1257dup, XM_047439607.1:c.1011dup, XP_011525745.1:p.Gln420fs, NP_919306.2:p.Gln419fs, XP_016882915.1:p.Gln419fs, NP_001092908.1:p.Gln420fs, XP_016882914.1:p.Gln419fs, NP_001092907.1:p.Gln420fs, XP_016882913.1:p.Gln420fs, XP_011525746.1:p.Gln420fs, XP_047295563.1:p.Gln338fs

Select item 147374923918.

rs1473749239 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:34944111 (GRCh38)
19:35435015 (GRCh37)
Canonical SPDI:: NC_000019.10:34944110:G:T
Gene:: ZNF30 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.34944111G>T, NC_000019.9:g.35435015G>T, XM_011527443.3:c.1148G>T, XM_011527443.2:c.1148G>T, XM_011527443.1:c.1148G>T, NM_194325.3:c.1145G>T, NM_194325.2:c.1145G>T, XM_017027426.2:c.1145G>T, XM_017027426.1:c.1145G>T, NR_024018.2:n.1603G>T, NR_024018.1:n.1603G>T, NM_001099438.2:c.1148G>T, NM_001099438.1:c.1148G>T, XM_017027425.2:c.1145G>T, XM_017027425.1:c.1145G>T, NM_001099437.2:c.1148G>T, NM_001099437.1:c.1148G>T, XM_017027424.2:c.1148G>T, XM_017027424.1:c.1148G>T, XM_011527444.2:c.1148G>T, XM_011527444.1:c.1148G>T, XM_047439607.1:c.902G>T, XP_011525745.1:p.Ser383Ile, NP_919306.2:p.Ser382Ile, XP_016882915.1:p.Ser382Ile, NP_001092908.1:p.Ser383Ile, XP_016882914.1:p.Ser382Ile, NP_001092907.1:p.Ser383Ile, XP_016882913.1:p.Ser383Ile, XP_011525746.1:p.Ser383Ile, XP_047295563.1:p.Ser301Ile

Select item 147371950419.

rs1473719504 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:34944235 (GRCh38)
19:35435139 (GRCh37)
Canonical SPDI:: NC_000019.10:34944234:T:C
Gene:: ZNF30 (Varview)
Functional Consequence:: non_coding_transcript_variant,synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.34944235T>C, NC_000019.9:g.35435139T>C, XM_011527443.3:c.1272T>C, XM_011527443.2:c.1272T>C, XM_011527443.1:c.1272T>C, NM_194325.3:c.1269T>C, NM_194325.2:c.1269T>C, XM_017027426.2:c.1269T>C, XM_017027426.1:c.1269T>C, NR_024018.2:n.1727T>C, NR_024018.1:n.1727T>C, NM_001099438.2:c.1272T>C, NM_001099438.1:c.1272T>C, XM_017027425.2:c.1269T>C, XM_017027425.1:c.1269T>C, NM_001099437.2:c.1272T>C, NM_001099437.1:c.1272T>C, XM_017027424.2:c.1272T>C, XM_017027424.1:c.1272T>C, XM_011527444.2:c.1272T>C, XM_011527444.1:c.1272T>C, XM_047439607.1:c.1026T>C

Select item 147366000320.

rs1473660003 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:34943370 (GRCh38)
19:35434274 (GRCh37)
Canonical SPDI:: NC_000019.10:34943369:C:T
Gene:: ZNF30 (Varview)
Functional Consequence:: non_coding_transcript_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.34943370C>T, NC_000019.9:g.35434274C>T, XM_011527443.3:c.407C>T, XM_011527443.2:c.407C>T, XM_011527443.1:c.407C>T, NM_194325.3:c.404C>T, NM_194325.2:c.404C>T, XM_017027426.2:c.404C>T, XM_017027426.1:c.404C>T, NR_024018.2:n.862C>T, NR_024018.1:n.862C>T, NM_001099438.2:c.407C>T, NM_001099438.1:c.407C>T, XM_017027425.2:c.404C>T, XM_017027425.1:c.404C>T, NM_001099437.2:c.407C>T, NM_001099437.1:c.407C>T, XM_017027424.2:c.407C>T, XM_017027424.1:c.407C>T, XM_011527444.2:c.407C>T, XM_011527444.1:c.407C>T, XM_047439607.1:c.161C>T, XP_011525745.1:p.Pro136Leu, NP_919306.2:p.Pro135Leu, XP_016882915.1:p.Pro135Leu, NP_001092908.1:p.Pro136Leu, XP_016882914.1:p.Pro135Leu, NP_001092907.1:p.Pro136Leu, XP_016882913.1:p.Pro136Leu, XP_011525746.1:p.Pro136Leu, XP_047295563.1:p.Pro54Leu

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Send to:

Links from Protein

Items: 1 to 20 of 650

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity

dbSNP

Result Filters

Validation Status

Function Class

Variation Class

Annotation

Global MAF

Custom range

Additional filters

Display Settings:

Links from Protein

Items: 1 to 20 of 650

Page of 33

Page of 33

Display Settings:

Supplemental Content

Find related data

Recent activity