SNP Links for Gene (Select 285349) - SNP

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Select item 14914940831.

rs1491494083 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 3:44598142 (GRCh38)
3:44639634 (GRCh37)
Canonical SPDI:: NC_000003.12:44598140:TCT:T
Gene:: ZNF660 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000003.12:g.44598142_44598143del, NC_000003.11:g.44639634_44639635del, NG_054906.1:g.18294_18295del, NM_173658.4:c.*2953_*2954del, NM_173658.3:c.*2953_*2954del, NW_009646197.1:g.123496_123497del

Select item 14914872002.

rs1491487200 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TTGT,TTGTGT [Show Flanks]
Chromosome:: 3:44582907 (GRCh38)
3:44624400 (GRCh37)
Canonical SPDI:: NC_000003.12:44582907:GT:GTTTGT,NC_000003.12:44582907:GT:GTTTGTGT
Gene:: ZKSCAN7 (Varview), ZKSCAN7-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTTTGTGT=0./0 (ALFA)
HGVS:: NC_000003.12:g.44582909_44582910insTTGT, NC_000003.12:g.44582909_44582910insTTGTGT, NC_000003.11:g.44624401_44624402insTTGT, NC_000003.11:g.44624401_44624402insTTGTGT, NG_054906.1:g.3061_3062insTTGT, NG_054906.1:g.3061_3062insTTGTGT, NW_009646197.1:g.108263_108264insTTGT, NW_009646197.1:g.108263_108264insTTGTGT

Select item 14913078193.

rs1491307819 has merged into rs4016043 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTGTGTGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 3:44582925 (GRCh38)
3:44624417 (GRCh37)
Canonical SPDI:: NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000003.12:44582907:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: ZKSCAN7 (Varview), ZKSCAN7-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTGTGTG=0./0 (ALFA)
GTGTGTGTGTGT=0.15/6 (GENOME_DK)
GTGTGTGTGTGT=0.3975/1532 (ALSPAC)
HGVS:: NC_000003.12:g.44582909TG[8], NC_000003.12:g.44582909TG[9], NC_000003.12:g.44582909TG[10], NC_000003.12:g.44582909TG[11], NC_000003.12:g.44582909TG[12], NC_000003.12:g.44582909TG[13], NC_000003.12:g.44582909TG[14], NC_000003.12:g.44582909TG[15], NC_000003.12:g.44582909TG[16], NC_000003.12:g.44582909TG[17], NC_000003.12:g.44582909TG[18], NC_000003.12:g.44582909TG[20], NC_000003.12:g.44582909TG[21], NC_000003.12:g.44582909TG[22], NC_000003.12:g.44582909TG[23], NC_000003.12:g.44582909TG[24], NC_000003.12:g.44582909TG[25], NC_000003.12:g.44582909TG[26], NC_000003.11:g.44624401TG[8], NC_000003.11:g.44624401TG[9], NC_000003.11:g.44624401TG[10], NC_000003.11:g.44624401TG[11], NC_000003.11:g.44624401TG[12], NC_000003.11:g.44624401TG[13], NC_000003.11:g.44624401TG[14], NC_000003.11:g.44624401TG[15], NC_000003.11:g.44624401TG[16], NC_000003.11:g.44624401TG[17], NC_000003.11:g.44624401TG[18], NC_000003.11:g.44624401TG[20], NC_000003.11:g.44624401TG[21], NC_000003.11:g.44624401TG[22], NC_000003.11:g.44624401TG[23], NC_000003.11:g.44624401TG[24], NC_000003.11:g.44624401TG[25], NC_000003.11:g.44624401TG[26], NG_054906.1:g.3061TG[8], NG_054906.1:g.3061TG[9], NG_054906.1:g.3061TG[10], NG_054906.1:g.3061TG[11], NG_054906.1:g.3061TG[12], NG_054906.1:g.3061TG[13], NG_054906.1:g.3061TG[14], NG_054906.1:g.3061TG[15], NG_054906.1:g.3061TG[16], NG_054906.1:g.3061TG[17], NG_054906.1:g.3061TG[18], NG_054906.1:g.3061TG[20], NG_054906.1:g.3061TG[21], NG_054906.1:g.3061TG[22], NG_054906.1:g.3061TG[23], NG_054906.1:g.3061TG[24], NG_054906.1:g.3061TG[25], NG_054906.1:g.3061TG[26], NW_009646197.1:g.108263TG[8], NW_009646197.1:g.108263TG[9], NW_009646197.1:g.108263TG[10], NW_009646197.1:g.108263TG[11], NW_009646197.1:g.108263TG[12], NW_009646197.1:g.108263TG[13], NW_009646197.1:g.108263TG[14], NW_009646197.1:g.108263TG[15], NW_009646197.1:g.108263TG[16], NW_009646197.1:g.108263TG[17], NW_009646197.1:g.108263TG[18], NW_009646197.1:g.108263TG[20], NW_009646197.1:g.108263TG[21], NW_009646197.1:g.108263TG[22], NW_009646197.1:g.108263TG[23], NW_009646197.1:g.108263TG[24], NW_009646197.1:g.108263TG[25], NW_009646197.1:g.108263TG[26]

Select item 14911097084.

rs1491109708 [Homo sapiens]

Variant type:: DEL
Alleles:: CG>- [Show Flanks]
Chromosome:: 3:44582907 (GRCh38)
3:44624399 (GRCh37)
Canonical SPDI:: NC_000003.12:44582906:CG:
Gene:: ZKSCAN7 (Varview), ZKSCAN7-AS1 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: -=0.00009/1 (ALFA)
HGVS:: NC_000003.12:g.44582907_44582908del, NC_000003.11:g.44624399_44624400del, NG_054906.1:g.3059_3060del, NW_009646197.1:g.108261_108262del

Select item 14907508495.

rs1490750849 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:44595803 (GRCh38)
3:44637295 (GRCh37)
Canonical SPDI:: NC_000003.12:44595802:A:G
Gene:: ZNF660 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
Functional Consequence:: intron_variant,3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.44595803A>G, NC_000003.11:g.44637295A>G, NG_054906.1:g.15955A>G, NM_173658.4:c.*614A>G, NM_173658.3:c.*614A>G, NM_173658.2:c.*614A>G, NW_009646197.1:g.121157A>G

Select item 14906605116.

rs1490660511 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:44586796 (GRCh38)
3:44628288 (GRCh37)
Canonical SPDI:: NC_000003.12:44586795:A:G
Gene:: ZNF660 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.44586796A>G, NC_000003.11:g.44628288A>G, NG_054906.1:g.6948A>G, NW_009646197.1:g.112150A>G

Select item 14906556797.

rs1490655679 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAGAAAGAAA>- [Show Flanks]
Chromosome:: 3:44588061 (GRCh38)
3:44629553 (GRCh37)
Canonical SPDI:: NC_000003.12:44588055:AGAAAAAAAGAAAGAAA:AGAAA
Gene:: ZNF660 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAAA=0./0 (ALFA)
-=0.000015/2 (GnomAD)
-=0.000023/6 (TOPMED)
HGVS:: NC_000003.12:g.44588061_44588072del, NC_000003.11:g.44629553_44629564del, NG_054906.1:g.8213_8224del, NW_009646197.1:g.113415_113426del

Select item 14906414048.

rs1490641404 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 3:44594323 (GRCh38)
3:44635815 (GRCh37)
Canonical SPDI:: NC_000003.12:44594322:C:G,NC_000003.12:44594322:C:T
Gene:: ZNF660 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant,stop_gained
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.44594323C>G, NC_000003.12:g.44594323C>T, NC_000003.11:g.44635815C>G, NC_000003.11:g.44635815C>T, NG_054906.1:g.14475C>G, NG_054906.1:g.14475C>T, NM_173658.4:c.130C>G, NM_173658.4:c.130C>T, NM_173658.3:c.130C>G, NM_173658.3:c.130C>T, NM_173658.2:c.130C>G, NM_173658.2:c.130C>T, NW_009646197.1:g.119677C>G, NW_009646197.1:g.119677C>T, NP_775929.2:p.Gln44Glu, NP_775929.2:p.Gln44Ter

Select item 14904470259.

rs1490447025 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:44583668 (GRCh38)
3:44625160 (GRCh37)
Canonical SPDI:: NC_000003.12:44583667:A:G
Gene:: ZKSCAN7 (Varview), ZNF660 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.00003/8 (TOPMED)
G=0.000036/5 (GnomAD)
HGVS:: NC_000003.12:g.44583668A>G, NC_000003.11:g.44625160A>G, NG_054906.1:g.3820A>G, NW_009646197.1:g.109022A>G

Select item 149043039410.

rs1490430394 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:44585741 (GRCh38)
3:44627233 (GRCh37)
Canonical SPDI:: NC_000003.12:44585740:G:T
Gene:: ZNF660 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.44585741G>T, NC_000003.11:g.44627233G>T, NG_054906.1:g.5893G>T, NW_009646197.1:g.111095G>T

Select item 149015241511.

rs1490152415 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:44582968 (GRCh38)
3:44624460 (GRCh37)
Canonical SPDI:: NC_000003.12:44582967:C:T
Gene:: ZKSCAN7 (Varview), ZNF660 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,genic_downstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.44582968C>T, NC_000003.11:g.44624460C>T, NG_054906.1:g.3120C>T, NW_009646197.1:g.108322C>T

Select item 149006533512.

rs1490065335 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 3:44584951 (GRCh38)
3:44626443 (GRCh37)
Canonical SPDI:: NC_000003.12:44584950:G:T
Gene:: ZNF660 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.44584951G>T, NC_000003.11:g.44626443G>T, NG_054906.1:g.5103G>T, NW_009646197.1:g.110305G>T, NM_173658.3:c.-346G>T, NR_147692.1:n.102G>T, NM_001351733.1:c.-256G>T, NM_001351732.1:c.-247G>T, NR_147691.1:n.102G>T, NM_001351735.1:c.-256G>T, NM_001351734.1:c.-247G>T

Select item 148990397613.

rs1489903976 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:44594796 (GRCh38)
3:44636288 (GRCh37)
Canonical SPDI:: NC_000003.12:44594795:T:C
Gene:: ZNF660 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by cluster
HGVS:: NC_000003.12:g.44594796T>C, NC_000003.11:g.44636288T>C, NG_054906.1:g.14948T>C, NM_173658.4:c.603T>C, NM_173658.3:c.603T>C, NM_173658.2:c.603T>C, NW_009646197.1:g.120150T>C

Select item 148983926014.

rs1489839260 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 3:44587596 (GRCh38)
3:44629088 (GRCh37)
Canonical SPDI:: NC_000003.12:44587595:C:A
Gene:: ZNF660 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.44587596C>A, NC_000003.11:g.44629088C>A, NG_054906.1:g.7748C>A, NW_009646197.1:g.112950C>A

Select item 148978245215.

rs1489782452 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:44592550 (GRCh38)
3:44634042 (GRCh37)
Canonical SPDI:: NC_000003.12:44592549:C:T
Gene:: ZNF660 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000447/2 (ALFA)
T=0.000007/1 (GnomAD)
T=0.000446/2 (Estonian)
HGVS:: NC_000003.12:g.44592550C>T, NC_000003.11:g.44634042C>T, NG_054906.1:g.12702C>T, NW_009646197.1:g.117904C>T

Select item 148903692116.

rs1489036921 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:44590637 (GRCh38)
3:44632129 (GRCh37)
Canonical SPDI:: NC_000003.12:44590636:G:C
Gene:: ZNF660 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000003.12:g.44590637G>C, NC_000003.11:g.44632129G>C, NG_054906.1:g.10789G>C, NW_009646197.1:g.115991G>C

Select item 148871123617.

rs1488711236 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 3:44589419 (GRCh38)
3:44630911 (GRCh37)
Canonical SPDI:: NC_000003.12:44589418:C:A,NC_000003.12:44589418:C:T
Gene:: ZNF660 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000015/4 (TOPMED)
T=0.000036/5 (GnomAD)
HGVS:: NC_000003.12:g.44589419C>A, NC_000003.12:g.44589419C>T, NC_000003.11:g.44630911C>A, NC_000003.11:g.44630911C>T, NG_054906.1:g.9571C>A, NG_054906.1:g.9571C>T, NW_009646197.1:g.114773C>A, NW_009646197.1:g.114773C>T

Select item 148825800818.

rs1488258008 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:44594205 (GRCh38)
3:44635697 (GRCh37)
Canonical SPDI:: NC_000003.12:44594204:G:A
Gene:: ZNF660 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.44594205G>A, NC_000003.11:g.44635697G>A, NG_054906.1:g.14357G>A, NM_173658.4:c.12G>A, NM_173658.3:c.12G>A, NM_173658.2:c.12G>A, NW_009646197.1:g.119559G>A

Select item 148789743619.

rs1487897436 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:44594720 (GRCh38)
3:44636212 (GRCh37)
Canonical SPDI:: NC_000003.12:44594719:A:G
Gene:: ZNF660 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant,intron_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000003.12:g.44594720A>G, NC_000003.11:g.44636212A>G, NG_054906.1:g.14872A>G, NM_173658.4:c.527A>G, NM_173658.3:c.527A>G, NM_173658.2:c.527A>G, NW_009646197.1:g.120074A>G, NP_775929.2:p.Asn176Ser

Select item 148758780420.

rs1487587804 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:44583822 (GRCh38)
3:44625314 (GRCh37)
Canonical SPDI:: NC_000003.12:44583821:T:C
Gene:: ZKSCAN7 (Varview), ZNF660 (Varview), ZNF660-ZNF197 (Varview), ZKSCAN7-AS1 (Varview)
Functional Consequence:: intron_variant,downstream_transcript_variant,2KB_upstream_variant,upstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000014/2 (GnomAD)
C=0.009434/2 (Vietnamese)
HGVS:: NC_000003.12:g.44583822T>C, NC_000003.11:g.44625314T>C, NG_054906.1:g.3974T>C, NW_009646197.1:g.109176T>C

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