SNP Links for Protein (Select 1034654756) - SNP

Select item 14885279801.

rs1488527980 [Homo sapiens]

Variant type:: DEL
Alleles:: AG>- [Show Flanks]
Chromosome:: 7:99531838 (GRCh38)
7:99129461 (GRCh37)
Canonical SPDI:: NC_000007.14:99531837:AG:
Gene:: ZKSCAN5 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.99531838_99531839del, NC_000007.13:g.99129461_99129462del, NM_014569.4:c.2109_2110del, NM_014569.3:c.2109_2110del, NM_145102.4:c.2109_2110del, NM_145102.3:c.2109_2110del, NM_145102.2:c.2109_2110del, XM_017011921.3:c.2106_2107del, XM_017011921.2:c.2106_2107del, XM_017011921.1:c.2106_2107del, XM_017011922.2:c.2106_2107del, XM_017011922.1:c.2106_2107del, NM_001318082.2:c.2109_2110del, NM_001318082.1:c.2109_2110del, XM_017011924.2:c.1890_1891del, XM_017011924.1:c.1890_1891del, NM_001318083.2:c.1890_1891del, NM_001318083.1:c.1890_1891del, NM_001318084.1:c.1317_1318del, NP_055384.1:p.Val704fs, NP_659570.1:p.Val704fs, XP_016867410.1:p.Val703fs, XP_016867411.1:p.Val703fs, NP_001305011.1:p.Val704fs, XP_016867413.1:p.Val631fs, NP_001305012.1:p.Val631fs, NP_001305013.1:p.Val440fs

Select item 14880432452.

rs1488043245 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:99526263 (GRCh38)
7:99123886 (GRCh37)
Canonical SPDI:: NC_000007.14:99526262:G:A
Gene:: ZKSCAN5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_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_000007.14:g.99526263G>A, NC_000007.13:g.99123886G>A, NM_014569.4:c.1223G>A, NM_014569.3:c.1223G>A, NM_145102.4:c.1223G>A, NM_145102.3:c.1223G>A, NM_145102.2:c.1223G>A, XM_017011921.3:c.1220G>A, XM_017011921.2:c.1220G>A, XM_017011921.1:c.1220G>A, XM_017011922.2:c.1220G>A, XM_017011922.1:c.1220G>A, NM_001318082.2:c.1223G>A, NM_001318082.1:c.1223G>A, XM_017011924.2:c.1004G>A, XM_017011924.1:c.1004G>A, NM_001318083.2:c.1004G>A, NM_001318083.1:c.1004G>A, NM_001318084.1:c.431G>A, NP_055384.1:p.Gly408Glu, NP_659570.1:p.Gly408Glu, XP_016867410.1:p.Gly407Glu, XP_016867411.1:p.Gly407Glu, NP_001305011.1:p.Gly408Glu, XP_016867413.1:p.Gly335Glu, NP_001305012.1:p.Gly335Glu, NP_001305013.1:p.Gly144Glu

Select item 14864367473.

rs1486436747 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:99506054 (GRCh38)
7:99103677 (GRCh37)
Canonical SPDI:: NC_000007.14:99506053:A:G
Gene:: ZKSCAN5 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.99506054A>G, NC_000007.13:g.99103677A>G, NM_014569.4:c.10A>G, NM_014569.3:c.10A>G, NM_145102.4:c.10A>G, NM_145102.3:c.10A>G, NM_145102.2:c.10A>G, XM_017011921.3:c.10A>G, XM_017011921.2:c.10A>G, XM_017011921.1:c.10A>G, XM_017011922.2:c.10A>G, XM_017011922.1:c.10A>G, NM_001318082.2:c.10A>G, NM_001318082.1:c.10A>G, XM_017011924.2:c.10A>G, XM_017011924.1:c.10A>G, NM_001318083.2:c.10A>G, NM_001318083.1:c.10A>G, NM_001318084.1:c.-647A>G, NP_055384.1:p.Thr4Ala, NP_659570.1:p.Thr4Ala, XP_016867410.1:p.Thr4Ala, XP_016867411.1:p.Thr4Ala, NP_001305011.1:p.Thr4Ala, XP_016867413.1:p.Thr4Ala, NP_001305012.1:p.Thr4Ala

Select item 14795152934.

rs1479515293 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:99526284 (GRCh38)
7:99123907 (GRCh37)
Canonical SPDI:: NC_000007.14:99526283:C:G
Gene:: ZKSCAN5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000039/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.99526284C>G, NC_000007.13:g.99123907C>G, NM_014569.4:c.1244C>G, NM_014569.3:c.1244C>G, NM_145102.4:c.1244C>G, NM_145102.3:c.1244C>G, NM_145102.2:c.1244C>G, XM_017011921.3:c.1241C>G, XM_017011921.2:c.1241C>G, XM_017011921.1:c.1241C>G, XM_017011922.2:c.1241C>G, XM_017011922.1:c.1241C>G, NM_001318082.2:c.1244C>G, NM_001318082.1:c.1244C>G, XM_017011924.2:c.1025C>G, XM_017011924.1:c.1025C>G, NM_001318083.2:c.1025C>G, NM_001318083.1:c.1025C>G, NM_001318084.1:c.452C>G, NP_055384.1:p.Ser415Cys, NP_659570.1:p.Ser415Cys, XP_016867410.1:p.Ser414Cys, XP_016867411.1:p.Ser414Cys, NP_001305011.1:p.Ser415Cys, XP_016867413.1:p.Ser342Cys, NP_001305012.1:p.Ser342Cys, NP_001305013.1:p.Ser151Cys

Select item 14789682935.

rs1478968293 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:99531321 (GRCh38)
7:99128944 (GRCh37)
Canonical SPDI:: NC_000007.14:99531320:A:G
Gene:: ZKSCAN5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.99531321A>G, NC_000007.13:g.99128944A>G, NM_014569.4:c.1592A>G, NM_014569.3:c.1592A>G, NM_145102.4:c.1592A>G, NM_145102.3:c.1592A>G, NM_145102.2:c.1592A>G, XM_017011921.3:c.1589A>G, XM_017011921.2:c.1589A>G, XM_017011921.1:c.1589A>G, XM_017011922.2:c.1589A>G, XM_017011922.1:c.1589A>G, NM_001318082.2:c.1592A>G, NM_001318082.1:c.1592A>G, XM_017011924.2:c.1373A>G, XM_017011924.1:c.1373A>G, NM_001318083.2:c.1373A>G, NM_001318083.1:c.1373A>G, NM_001318084.1:c.800A>G, NP_055384.1:p.Asn531Ser, NP_659570.1:p.Asn531Ser, XP_016867410.1:p.Asn530Ser, XP_016867411.1:p.Asn530Ser, NP_001305011.1:p.Asn531Ser, XP_016867413.1:p.Asn458Ser, NP_001305012.1:p.Asn458Ser, NP_001305013.1:p.Asn267Ser

Select item 14770880366.

rs1477088036 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:99531240 (GRCh38)
7:99128863 (GRCh37)
Canonical SPDI:: NC_000007.14:99531239:G:A
Gene:: ZKSCAN5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.99531240G>A, NC_000007.13:g.99128863G>A, NM_014569.4:c.1511G>A, NM_014569.3:c.1511G>A, NM_145102.4:c.1511G>A, NM_145102.3:c.1511G>A, NM_145102.2:c.1511G>A, XM_017011921.3:c.1508G>A, XM_017011921.2:c.1508G>A, XM_017011921.1:c.1508G>A, XM_017011922.2:c.1508G>A, XM_017011922.1:c.1508G>A, NM_001318082.2:c.1511G>A, NM_001318082.1:c.1511G>A, XM_017011924.2:c.1292G>A, XM_017011924.1:c.1292G>A, NM_001318083.2:c.1292G>A, NM_001318083.1:c.1292G>A, NM_001318084.1:c.719G>A, NP_055384.1:p.Cys504Tyr, NP_659570.1:p.Cys504Tyr, XP_016867410.1:p.Cys503Tyr, XP_016867411.1:p.Cys503Tyr, NP_001305011.1:p.Cys504Tyr, XP_016867413.1:p.Cys431Tyr, NP_001305012.1:p.Cys431Tyr, NP_001305013.1:p.Cys240Tyr

Select item 14770157727.

rs1477015772 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:99531856 (GRCh38)
7:99129479 (GRCh37)
Canonical SPDI:: NC_000007.14:99531855:G:T
Gene:: ZKSCAN5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000007.14:g.99531856G>T, NC_000007.13:g.99129479G>T, NM_014569.4:c.2127G>T, NM_014569.3:c.2127G>T, NM_145102.4:c.2127G>T, NM_145102.3:c.2127G>T, NM_145102.2:c.2127G>T, XM_017011921.3:c.2124G>T, XM_017011921.2:c.2124G>T, XM_017011921.1:c.2124G>T, XM_017011922.2:c.2124G>T, XM_017011922.1:c.2124G>T, NM_001318082.2:c.2127G>T, NM_001318082.1:c.2127G>T, XM_017011924.2:c.1908G>T, XM_017011924.1:c.1908G>T, NM_001318083.2:c.1908G>T, NM_001318083.1:c.1908G>T, NM_001318084.1:c.1335G>T, NP_055384.1:p.Lys709Asn, NP_659570.1:p.Lys709Asn, XP_016867410.1:p.Lys708Asn, XP_016867411.1:p.Lys708Asn, NP_001305011.1:p.Lys709Asn, XP_016867413.1:p.Lys636Asn, NP_001305012.1:p.Lys636Asn, NP_001305013.1:p.Lys445Asn

Select item 14769956348.

rs1476995634 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:99532159 (GRCh38)
7:99129782 (GRCh37)
Canonical SPDI:: NC_000007.14:99532158:C:T
Gene:: ZKSCAN5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.99532159C>T, NC_000007.13:g.99129782C>T, NM_014569.4:c.2430C>T, NM_014569.3:c.2430C>T, NM_145102.4:c.2430C>T, NM_145102.3:c.2430C>T, NM_145102.2:c.2430C>T, XM_017011921.3:c.2427C>T, XM_017011921.2:c.2427C>T, XM_017011921.1:c.2427C>T, XM_017011922.2:c.2427C>T, XM_017011922.1:c.2427C>T, NM_001318082.2:c.2430C>T, NM_001318082.1:c.2430C>T, XM_017011924.2:c.2211C>T, XM_017011924.1:c.2211C>T, NM_001318083.2:c.2211C>T, NM_001318083.1:c.2211C>T, NM_001318084.1:c.1638C>T

Select item 14765979509.

rs1476597950 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:99531945 (GRCh38)
7:99129568 (GRCh37)
Canonical SPDI:: NC_000007.14:99531944:A:G
Gene:: ZKSCAN5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.99531945A>G, NC_000007.13:g.99129568A>G, NM_014569.4:c.2216A>G, NM_014569.3:c.2216A>G, NM_145102.4:c.2216A>G, NM_145102.3:c.2216A>G, NM_145102.2:c.2216A>G, XM_017011921.3:c.2213A>G, XM_017011921.2:c.2213A>G, XM_017011921.1:c.2213A>G, XM_017011922.2:c.2213A>G, XM_017011922.1:c.2213A>G, NM_001318082.2:c.2216A>G, NM_001318082.1:c.2216A>G, XM_017011924.2:c.1997A>G, XM_017011924.1:c.1997A>G, NM_001318083.2:c.1997A>G, NM_001318083.1:c.1997A>G, NM_001318084.1:c.1424A>G, NP_055384.1:p.His739Arg, NP_659570.1:p.His739Arg, XP_016867410.1:p.His738Arg, XP_016867411.1:p.His738Arg, NP_001305011.1:p.His739Arg, XP_016867413.1:p.His666Arg, NP_001305012.1:p.His666Arg, NP_001305013.1:p.His475Arg

Select item 147574256010.

rs1475742560 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:99525919 (GRCh38)
7:99123542 (GRCh37)
Canonical SPDI:: NC_000007.14:99525918:T:A
Gene:: ZKSCAN5 (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=0.000019/5 (TOPMED)
HGVS:: NC_000007.14:g.99525919T>A, NC_000007.13:g.99123542T>A, NM_014569.4:c.879T>A, NM_014569.3:c.879T>A, NM_145102.4:c.879T>A, NM_145102.3:c.879T>A, NM_145102.2:c.879T>A, XM_017011921.3:c.876T>A, XM_017011921.2:c.876T>A, XM_017011921.1:c.876T>A, XM_017011922.2:c.876T>A, XM_017011922.1:c.876T>A, NM_001318082.2:c.879T>A, NM_001318082.1:c.879T>A, XM_017011924.2:c.660T>A, XM_017011924.1:c.660T>A, NM_001318083.2:c.660T>A, NM_001318083.1:c.660T>A, NM_001318084.1:c.87T>A, NP_055384.1:p.Asp293Glu, NP_659570.1:p.Asp293Glu, XP_016867410.1:p.Asp292Glu, XP_016867411.1:p.Asp292Glu, NP_001305011.1:p.Asp293Glu, XP_016867413.1:p.Asp220Glu, NP_001305012.1:p.Asp220Glu, NP_001305013.1:p.Asp29Glu

Select item 147473394611.

rs1474733946 [Homo sapiens]

Variant type:: DELINS
Alleles:: TCC>- [Show Flanks]
Chromosome:: 7:99526107 (GRCh38)
7:99123730 (GRCh37)
Canonical SPDI:: NC_000007.14:99526103:TCCTCC:TCC
Gene:: ZKSCAN5 (Varview)
Functional Consequence:: coding_sequence_variant,inframe_deletion
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.99526104TCC[1], NC_000007.13:g.99123727TCC[1], NM_014569.4:c.1064TCC[1], NM_014569.3:c.1064TCC[1], NM_145102.4:c.1064TCC[1], NM_145102.3:c.1064TCC[1], NM_145102.2:c.1064TCC[1], XM_017011921.3:c.1061TCC[1], XM_017011921.2:c.1061TCC[1], XM_017011921.1:c.1061TCC[1], XM_017011922.2:c.1061TCC[1], XM_017011922.1:c.1061TCC[1], NM_001318082.2:c.1064TCC[1], NM_001318082.1:c.1064TCC[1], XM_017011924.2:c.845TCC[1], XM_017011924.1:c.845TCC[1], NM_001318083.2:c.845TCC[1], NM_001318083.1:c.845TCC[1], NM_001318084.1:c.272TCC[1], NP_055384.1:p.Leu356del, NP_659570.1:p.Leu356del, XP_016867410.1:p.Leu355del, XP_016867411.1:p.Leu355del, NP_001305011.1:p.Leu356del, XP_016867413.1:p.Leu283del, NP_001305012.1:p.Leu283del, NP_001305013.1:p.Leu92del

Select item 147363691112.

rs1473636911 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:99531686 (GRCh38)
7:99129309 (GRCh37)
Canonical SPDI:: NC_000007.14:99531685:C:T
Gene:: ZKSCAN5 (Varview)
Functional Consequence:: coding_sequence_variant,stop_gained
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.99531686C>T, NC_000007.13:g.99129309C>T, NM_014569.4:c.1957C>T, NM_014569.3:c.1957C>T, NM_145102.4:c.1957C>T, NM_145102.3:c.1957C>T, NM_145102.2:c.1957C>T, XM_017011921.3:c.1954C>T, XM_017011921.2:c.1954C>T, XM_017011921.1:c.1954C>T, XM_017011922.2:c.1954C>T, XM_017011922.1:c.1954C>T, NM_001318082.2:c.1957C>T, NM_001318082.1:c.1957C>T, XM_017011924.2:c.1738C>T, XM_017011924.1:c.1738C>T, NM_001318083.2:c.1738C>T, NM_001318083.1:c.1738C>T, NM_001318084.1:c.1165C>T, NP_055384.1:p.Arg653Ter, NP_659570.1:p.Arg653Ter, XP_016867410.1:p.Arg652Ter, XP_016867411.1:p.Arg652Ter, NP_001305011.1:p.Arg653Ter, XP_016867413.1:p.Arg580Ter, NP_001305012.1:p.Arg580Ter, NP_001305013.1:p.Arg389Ter

Select item 147087966713.

rs1470879667 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:99526120 (GRCh38)
7:99123743 (GRCh37)
Canonical SPDI:: NC_000007.14:99526119:C:T
Gene:: ZKSCAN5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0.000084/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.99526120C>T, NC_000007.13:g.99123743C>T, NM_014569.4:c.1080C>T, NM_014569.3:c.1080C>T, NM_145102.4:c.1080C>T, NM_145102.3:c.1080C>T, NM_145102.2:c.1080C>T, XM_017011921.3:c.1077C>T, XM_017011921.2:c.1077C>T, XM_017011921.1:c.1077C>T, XM_017011922.2:c.1077C>T, XM_017011922.1:c.1077C>T, NM_001318082.2:c.1080C>T, NM_001318082.1:c.1080C>T, XM_017011924.2:c.861C>T, XM_017011924.1:c.861C>T, NM_001318083.2:c.861C>T, NM_001318083.1:c.861C>T, NM_001318084.1:c.288C>T

Select item 146991140014.

rs1469911400 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 7:99512478 (GRCh38)
7:99110101 (GRCh37)
Canonical SPDI:: NC_000007.14:99512477:C:G
Gene:: ZKSCAN5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.99512478C>G, NC_000007.13:g.99110101C>G, NM_014569.4:c.440C>G, NM_014569.3:c.440C>G, NM_145102.4:c.440C>G, NM_145102.3:c.440C>G, NM_145102.2:c.440C>G, XM_017011921.3:c.440C>G, XM_017011921.2:c.440C>G, XM_017011921.1:c.440C>G, XM_017011922.2:c.440C>G, XM_017011922.1:c.440C>G, NM_001318082.2:c.440C>G, NM_001318082.1:c.440C>G, XM_017011924.2:c.440C>G, XM_017011924.1:c.440C>G, NM_001318083.2:c.440C>G, NM_001318083.1:c.440C>G, NM_001318084.1:c.-217C>G, NP_055384.1:p.Pro147Arg, NP_659570.1:p.Pro147Arg, XP_016867410.1:p.Pro147Arg, XP_016867411.1:p.Pro147Arg, NP_001305011.1:p.Pro147Arg, XP_016867413.1:p.Pro147Arg, NP_001305012.1:p.Pro147Arg

Select item 146878240815.

rs1468782408 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A,C,G [Show Flanks]
Chromosome:: 7:99520206 (GRCh38)
7:99117829 (GRCh37)
Canonical SPDI:: NC_000007.14:99520205:T:A,NC_000007.14:99520205:T:C,NC_000007.14:99520205:T:G
Gene:: ZKSCAN5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
G=0.002183/4 (Korea1K)
HGVS:: NC_000007.14:g.99520206T>A, NC_000007.14:g.99520206T>C, NC_000007.14:g.99520206T>G, NC_000007.13:g.99117829T>A, NC_000007.13:g.99117829T>C, NC_000007.13:g.99117829T>G, NM_014569.4:c.674T>A, NM_014569.4:c.674T>C, NM_014569.4:c.674T>G, NM_014569.3:c.674T>A, NM_014569.3:c.674T>C, NM_014569.3:c.674T>G, NM_145102.4:c.674T>A, NM_145102.4:c.674T>C, NM_145102.4:c.674T>G, NM_145102.3:c.674T>A, NM_145102.3:c.674T>C, NM_145102.3:c.674T>G, NM_145102.2:c.674T>A, NM_145102.2:c.674T>C, NM_145102.2:c.674T>G, XM_017011921.3:c.671T>A, XM_017011921.3:c.671T>C, XM_017011921.3:c.671T>G, XM_017011921.2:c.671T>A, XM_017011921.2:c.671T>C, XM_017011921.2:c.671T>G, XM_017011921.1:c.671T>A, XM_017011921.1:c.671T>C, XM_017011921.1:c.671T>G, XM_017011922.2:c.671T>A, XM_017011922.2:c.671T>C, XM_017011922.2:c.671T>G, XM_017011922.1:c.671T>A, XM_017011922.1:c.671T>C, XM_017011922.1:c.671T>G, NM_001318082.2:c.674T>A, NM_001318082.2:c.674T>C, NM_001318082.2:c.674T>G, NM_001318082.1:c.674T>A, NM_001318082.1:c.674T>C, NM_001318082.1:c.674T>G, NP_055384.1:p.Val225Glu, NP_055384.1:p.Val225Ala, NP_055384.1:p.Val225Gly, NP_659570.1:p.Val225Glu, NP_659570.1:p.Val225Ala, NP_659570.1:p.Val225Gly, XP_016867410.1:p.Val224Glu, XP_016867410.1:p.Val224Ala, XP_016867410.1:p.Val224Gly, XP_016867411.1:p.Val224Glu, XP_016867411.1:p.Val224Ala, XP_016867411.1:p.Val224Gly, NP_001305011.1:p.Val225Glu, NP_001305011.1:p.Val225Ala, NP_001305011.1:p.Val225Gly

Select item 146871407216.

rs1468714072 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 7:99506368 (GRCh38)
7:99103991 (GRCh37)
Canonical SPDI:: NC_000007.14:99506367:C:T
Gene:: ZKSCAN5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.99506368C>T, NC_000007.13:g.99103991C>T, NM_014569.4:c.324C>T, NM_014569.3:c.324C>T, NM_145102.4:c.324C>T, NM_145102.3:c.324C>T, NM_145102.2:c.324C>T, XM_017011921.3:c.324C>T, XM_017011921.2:c.324C>T, XM_017011921.1:c.324C>T, XM_017011922.2:c.324C>T, XM_017011922.1:c.324C>T, NM_001318082.2:c.324C>T, NM_001318082.1:c.324C>T, XM_017011924.2:c.324C>T, XM_017011924.1:c.324C>T, NM_001318083.2:c.324C>T, NM_001318083.1:c.324C>T, NM_001318084.1:c.-333C>T

Select item 146766987717.

rs1467669877 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:99506158 (GRCh38)
7:99103781 (GRCh37)
Canonical SPDI:: NC_000007.14:99506157:G:A
Gene:: ZKSCAN5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000008/2 (TOPMED)
G=0.5/1 (SGDP_PRJ)
HGVS:: NC_000007.14:g.99506158G>A, NC_000007.13:g.99103781G>A, NM_014569.4:c.114G>A, NM_014569.3:c.114G>A, NM_145102.4:c.114G>A, NM_145102.3:c.114G>A, NM_145102.2:c.114G>A, XM_017011921.3:c.114G>A, XM_017011921.2:c.114G>A, XM_017011921.1:c.114G>A, XM_017011922.2:c.114G>A, XM_017011922.1:c.114G>A, NM_001318082.2:c.114G>A, NM_001318082.1:c.114G>A, XM_017011924.2:c.114G>A, XM_017011924.1:c.114G>A, NM_001318083.2:c.114G>A, NM_001318083.1:c.114G>A, NM_001318084.1:c.-543G>A, NP_055384.1:p.Met38Ile, NP_659570.1:p.Met38Ile, XP_016867410.1:p.Met38Ile, XP_016867411.1:p.Met38Ile, NP_001305011.1:p.Met38Ile, XP_016867413.1:p.Met38Ile, NP_001305012.1:p.Met38Ile

Select item 146752099018.

rs1467520990 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:99526410 (GRCh38)
7:99124033 (GRCh37)
Canonical SPDI:: NC_000007.14:99526409:C:G,NC_000007.14:99526409:C:T
Gene:: ZKSCAN5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.99526410C>G, NC_000007.14:g.99526410C>T, NC_000007.13:g.99124033C>G, NC_000007.13:g.99124033C>T, NM_014569.4:c.1370C>G, NM_014569.4:c.1370C>T, NM_014569.3:c.1370C>G, NM_014569.3:c.1370C>T, NM_145102.4:c.1370C>G, NM_145102.4:c.1370C>T, NM_145102.3:c.1370C>G, NM_145102.3:c.1370C>T, NM_145102.2:c.1370C>G, NM_145102.2:c.1370C>T, XM_017011921.3:c.1367C>G, XM_017011921.3:c.1367C>T, XM_017011921.2:c.1367C>G, XM_017011921.2:c.1367C>T, XM_017011921.1:c.1367C>G, XM_017011921.1:c.1367C>T, XM_017011922.2:c.1367C>G, XM_017011922.2:c.1367C>T, XM_017011922.1:c.1367C>G, XM_017011922.1:c.1367C>T, NM_001318082.2:c.1370C>G, NM_001318082.2:c.1370C>T, NM_001318082.1:c.1370C>G, NM_001318082.1:c.1370C>T, XM_017011924.2:c.1151C>G, XM_017011924.2:c.1151C>T, XM_017011924.1:c.1151C>G, XM_017011924.1:c.1151C>T, NM_001318083.2:c.1151C>G, NM_001318083.2:c.1151C>T, NM_001318083.1:c.1151C>G, NM_001318083.1:c.1151C>T, NM_001318084.1:c.578C>G, NM_001318084.1:c.578C>T, NP_055384.1:p.Ser457Cys, NP_055384.1:p.Ser457Phe, NP_659570.1:p.Ser457Cys, NP_659570.1:p.Ser457Phe, XP_016867410.1:p.Ser456Cys, XP_016867410.1:p.Ser456Phe, XP_016867411.1:p.Ser456Cys, XP_016867411.1:p.Ser456Phe, NP_001305011.1:p.Ser457Cys, NP_001305011.1:p.Ser457Phe, XP_016867413.1:p.Ser384Cys, XP_016867413.1:p.Ser384Phe, NP_001305012.1:p.Ser384Cys, NP_001305012.1:p.Ser384Phe, NP_001305013.1:p.Ser193Cys, NP_001305013.1:p.Ser193Phe

Select item 146746445819.

rs1467464458 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:99525971 (GRCh38)
7:99123594 (GRCh37)
Canonical SPDI:: NC_000007.14:99525970:G:A
Gene:: ZKSCAN5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.99525971G>A, NC_000007.13:g.99123594G>A, NM_014569.4:c.931G>A, NM_014569.3:c.931G>A, NM_145102.4:c.931G>A, NM_145102.3:c.931G>A, NM_145102.2:c.931G>A, XM_017011921.3:c.928G>A, XM_017011921.2:c.928G>A, XM_017011921.1:c.928G>A, XM_017011922.2:c.928G>A, XM_017011922.1:c.928G>A, NM_001318082.2:c.931G>A, NM_001318082.1:c.931G>A, XM_017011924.2:c.712G>A, XM_017011924.1:c.712G>A, NM_001318083.2:c.712G>A, NM_001318083.1:c.712G>A, NM_001318084.1:c.139G>A, NP_055384.1:p.Val311Ile, NP_659570.1:p.Val311Ile, XP_016867410.1:p.Val310Ile, XP_016867411.1:p.Val310Ile, NP_001305011.1:p.Val311Ile, XP_016867413.1:p.Val238Ile, NP_001305012.1:p.Val238Ile, NP_001305013.1:p.Val47Ile

Select item 146464149020.

rs1464641490 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:99531186 (GRCh38)
7:99128809 (GRCh37)
Canonical SPDI:: NC_000007.14:99531185:T:C
Gene:: ZKSCAN5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000011/3 (TOPMED)
HGVS:: NC_000007.14:g.99531186T>C, NC_000007.13:g.99128809T>C, NM_014569.4:c.1457T>C, NM_014569.3:c.1457T>C, NM_145102.4:c.1457T>C, NM_145102.3:c.1457T>C, NM_145102.2:c.1457T>C, XM_017011921.3:c.1454T>C, XM_017011921.2:c.1454T>C, XM_017011921.1:c.1454T>C, XM_017011922.2:c.1454T>C, XM_017011922.1:c.1454T>C, NM_001318082.2:c.1457T>C, NM_001318082.1:c.1457T>C, XM_017011924.2:c.1238T>C, XM_017011924.1:c.1238T>C, NM_001318083.2:c.1238T>C, NM_001318083.1:c.1238T>C, NM_001318084.1:c.665T>C, NP_055384.1:p.Leu486Pro, NP_659570.1:p.Leu486Pro, XP_016867410.1:p.Leu485Pro, XP_016867411.1:p.Leu485Pro, NP_001305011.1:p.Leu486Pro, XP_016867413.1:p.Leu413Pro, NP_001305012.1:p.Leu413Pro, NP_001305013.1:p.Leu222Pro

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Result Filters

Clinical Significance

Validation Status

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Global MAF

Custom range

Additional filters

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Items: 1 to 20 of 743

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