SNP Links for Gene (Select 283337) - SNP

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Select item 14915537071.

rs1491553707 has merged into rs377127380 [Homo sapiens]

Variant type:: DELINS
Alleles:: GCGCGCGC>-,GC,GCGC,GCGCGC,GCGCGCGCGC,GCGCGCGCGCGC,GCGCGCGCGCGCGC,GCGCGCGCGCGCGCGC,GCGCGCGCGCGCGCGCGC,GCGCGCGCGCGCGCGCGCGC,GCGCGCGCGCGCGCGCGCGCGC,GCGCGCGCGCGCGCGCGCGCGCGC [Show Flanks]
Chromosome:: 12:53184155 (GRCh38)
12:53577939 (GRCh37)
Canonical SPDI:: NC_000012.12:53184150:GCGCGCGCGCGC:GCGC,NC_000012.12:53184150:GCGCGCGCGCGC:GCGCGC,NC_000012.12:53184150:GCGCGCGCGCGC:GCGCGCGC,NC_000012.12:53184150:GCGCGCGCGCGC:GCGCGCGCGC,NC_000012.12:53184150:GCGCGCGCGCGC:GCGCGCGCGCGCGC,NC_000012.12:53184150:GCGCGCGCGCGC:GCGCGCGCGCGCGCGC,NC_000012.12:53184150:GCGCGCGCGCGC:GCGCGCGCGCGCGCGCGC,NC_000012.12:53184150:GCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGC,NC_000012.12:53184150:GCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGC,NC_000012.12:53184150:GCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGCGC,NC_000012.12:53184150:GCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGCGCGC,NC_000012.12:53184150:GCGCGCGCGCGC:GCGCGCGCGCGCGCGCGCGCGCGCGCGC
Gene:: ZNF740 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GCGC=0./0 (ALFA)
HGVS:: NC_000012.12:g.53184151GC[2], NC_000012.12:g.53184151GC[3], NC_000012.12:g.53184151GC[4], NC_000012.12:g.53184151GC[5], NC_000012.12:g.53184151GC[7], NC_000012.12:g.53184151GC[8], NC_000012.12:g.53184151GC[9], NC_000012.12:g.53184151GC[10], NC_000012.12:g.53184151GC[11], NC_000012.12:g.53184151GC[12], NC_000012.12:g.53184151GC[13], NC_000012.12:g.53184151GC[14], NC_000012.11:g.53577935GC[2], NC_000012.11:g.53577935GC[3], NC_000012.11:g.53577935GC[4], NC_000012.11:g.53577935GC[5], NC_000012.11:g.53577935GC[7], NC_000012.11:g.53577935GC[8], NC_000012.11:g.53577935GC[9], NC_000012.11:g.53577935GC[10], NC_000012.11:g.53577935GC[11], NC_000012.11:g.53577935GC[12], NC_000012.11:g.53577935GC[13], NC_000012.11:g.53577935GC[14], NG_030036.1:g.1748GC[2], NG_030036.1:g.1748GC[3], NG_030036.1:g.1748GC[4], NG_030036.1:g.1748GC[5], NG_030036.1:g.1748GC[7], NG_030036.1:g.1748GC[8], NG_030036.1:g.1748GC[9], NG_030036.1:g.1748GC[10], NG_030036.1:g.1748GC[11], NG_030036.1:g.1748GC[12], NG_030036.1:g.1748GC[13], NG_030036.1:g.1748GC[14]

Select item 14907220552.

rs1490722055 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:53182050 (GRCh38)
12:53575834 (GRCh37)
Canonical SPDI:: NC_000012.12:53182049:T:C
Gene:: CSAD (Varview), ZNF740 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.53182050T>C, NC_000012.11:g.53575834T>C, NG_030036.1:g.3860A>G

Select item 14905837323.

rs1490583732 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:53188702 (GRCh38)
12:53582486 (GRCh37)
Canonical SPDI:: NC_000012.12:53188701:A:G
Gene:: ZNF740 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000012.12:g.53188702A>G, NC_000012.11:g.53582486A>G, NM_001004304.4:c.*1112A>G, NM_001004304.3:c.*1112A>G

Select item 14904510494.

rs1490451049 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:53189681 (GRCh38)
12:53583465 (GRCh37)
Canonical SPDI:: NC_000012.12:53189680:C:G
Gene:: ZNF740 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000012.12:g.53189681C>G, NC_000012.11:g.53583465C>G, NM_001004304.4:c.*2091C>G, NM_001004304.3:c.*2091C>G

Select item 14902275475.

rs1490227547 has merged into rs370653283 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>-,AA,AAA [Show Flanks]
Chromosome:: 12:53181597 (GRCh38)
12:53575381 (GRCh37)
Canonical SPDI:: NC_000012.12:53181596:AAAAAAAAAA:AAAAAAAAA,NC_000012.12:53181596:AAAAAAAAAA:AAAAAAAAAAA,NC_000012.12:53181596:AAAAAAAAAA:AAAAAAAAAAAA
Gene:: CSAD (Varview), ZNF740 (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAA=0.00022/4 (ALFA)
-=0.00167/1 (NorthernSweden)
-=0.00237/40 (TOMMO)
-=0.00301/3 (GoNL)
-=0.00328/6 (Korea1K)
HGVS:: NC_000012.12:g.53181606del, NC_000012.12:g.53181606dup, NC_000012.12:g.53181605_53181606dup, NC_000012.11:g.53575390del, NC_000012.11:g.53575390dup, NC_000012.11:g.53575389_53575390dup, NG_030036.1:g.4313del, NG_030036.1:g.4313dup, NG_030036.1:g.4312_4313dup, NG_079733.1:g.262del, NG_079733.1:g.262dup, NG_079733.1:g.261_262dup

Select item 14902022596.

rs1490202259 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:53182618 (GRCh38)
12:53576402 (GRCh37)
Canonical SPDI:: NC_000012.12:53182617:T:C
Gene:: CSAD (Varview), ZNF740 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_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_000012.12:g.53182618T>C, NC_000012.11:g.53576402T>C, NG_030036.1:g.3292A>G

Select item 14901967257.

rs1490196725 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 12:53180750 (GRCh38)
12:53574534 (GRCh37)
Canonical SPDI:: NC_000012.12:53180749:A:G
Gene:: CSAD (Varview), ZNF740 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,genic_upstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency
MAF:: G=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000012.12:g.53180750A>G, NC_000012.11:g.53574534A>G, NG_030036.1:g.5160T>C, NM_001244705.2:c.-109T>C, NM_001244705.1:c.-109T>C, NM_001004304.4:c.-395A>G

Select item 14901619308.

rs1490161930 [Homo sapiens]

Variant type:: DELINS
Alleles:: C>- [Show Flanks]
Chromosome:: 12:53187343 (GRCh38)
12:53581127 (GRCh37)
Canonical SPDI:: NC_000012.12:53187342:CC:C
Gene:: ZNF740 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
-=0.000015/4 (TOPMED)
HGVS:: NC_000012.12:g.53187344del, NC_000012.11:g.53581128del

Select item 14901107769.

rs1490110776 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 12:53188380 (GRCh38)
12:53582164 (GRCh37)
Canonical SPDI:: NC_000012.12:53188379:G:C
Gene:: ZNF740 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.53188380G>C, NC_000012.11:g.53582164G>C, NM_001004304.4:c.*790G>C, NM_001004304.3:c.*790G>C

Select item 148973885010.

rs1489738850 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 12:53180606 (GRCh38)
12:53574390 (GRCh37)
Canonical SPDI:: NC_000012.12:53180605:C:G
Gene:: CSAD (Varview), ZNF740 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.53180606C>G, NC_000012.11:g.53574390C>G, NG_030036.1:g.5304G>C, NM_015989.5:c.-244G>C, NM_015989.4:c.-244G>C, XM_024449013.2:c.-89G>C, XM_024449013.1:c.-89G>C, XM_024449014.2:c.-89G>C, XM_024449014.1:c.-89G>C, XM_047428958.1:c.-101G>C, XM_047428959.1:c.-67G>C, XM_047428960.1:c.-89G>C, XM_047428961.1:c.-67G>C

Select item 148968808511.

rs1489688085 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:53181185 (GRCh38)
12:53574969 (GRCh37)
Canonical SPDI:: NC_000012.12:53181184:T:C
Gene:: CSAD (Varview), ZNF740 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_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_000012.12:g.53181185T>C, NC_000012.11:g.53574969T>C, NG_030036.1:g.4725A>G

Select item 148942670212.

rs1489426702 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GGTG [Show Flanks]
Chromosome:: 12:53184112 (GRCh38)
12:53577897 (GRCh37)
Canonical SPDI:: NC_000012.12:53184112:GGGTG:GGGTGGGTG
Gene:: ZNF740 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: GGGTGGGTG=0./0 (ALFA)
GGGT=0.00001/1 (GnomAD)
HGVS:: NC_000012.12:g.53184114_53184117dup, NC_000012.11:g.53577898_53577901dup, NG_030036.1:g.1794_1797dup

Select item 148937292813.

rs1489372928 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 12:53180602 (GRCh38)
12:53574386 (GRCh37)
Canonical SPDI:: NC_000012.12:53180601:C:G,NC_000012.12:53180601:C:T
Gene:: CSAD (Varview), ZNF740 (Varview)
Functional Consequence:: intron_variant,5_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
G=0.000014/2 (GnomAD)
G=0.000023/6 (TOPMED)
HGVS:: NC_000012.12:g.53180602C>G, NC_000012.12:g.53180602C>T, NC_000012.11:g.53574386C>G, NC_000012.11:g.53574386C>T, NG_030036.1:g.5308G>C, NG_030036.1:g.5308G>A, NM_015989.5:c.-240G>C, NM_015989.5:c.-240G>A, NM_015989.4:c.-240G>C, NM_015989.4:c.-240G>A, XM_024449013.2:c.-85G>C, XM_024449013.2:c.-85G>A, XM_024449013.1:c.-85G>C, XM_024449013.1:c.-85G>A, XM_024449014.2:c.-85G>C, XM_024449014.2:c.-85G>A, XM_024449014.1:c.-85G>C, XM_024449014.1:c.-85G>A, XM_047428958.1:c.-97G>C, XM_047428958.1:c.-97G>A, XM_047428959.1:c.-63G>C, XM_047428959.1:c.-63G>A, XM_047428960.1:c.-85G>C, XM_047428960.1:c.-85G>A, XM_047428961.1:c.-63G>C, XM_047428961.1:c.-63G>A

Select item 148888038714.

rs1488880387 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 12:53180691 (GRCh38)
12:53574475 (GRCh37)
Canonical SPDI:: NC_000012.12:53180690:C:T
Gene:: CSAD (Varview), ZNF740 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000011/3 (TOPMED)
HGVS:: NC_000012.12:g.53180691C>T, NC_000012.11:g.53574475C>T, NG_030036.1:g.5219G>A

Select item 148873656215.

rs1488736562 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:53183494 (GRCh38)
12:53577278 (GRCh37)
Canonical SPDI:: NC_000012.12:53183493:T:C
Gene:: ZNF740 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000014/2 (GnomAD)
HGVS:: NC_000012.12:g.53183494T>C, NC_000012.11:g.53577278T>C, NG_030036.1:g.2416A>G

Select item 148870653516.

rs1488706535 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 12:53180935 (GRCh38)
12:53574719 (GRCh37)
Canonical SPDI:: NC_000012.12:53180934:A:C,NC_000012.12:53180934:A:G
Gene:: CSAD (Varview), ZNF740 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000253/3 (ALFA)
C=0.000004/1 (TOPMED)
G=0.059346/167 (KOREAN)
HGVS:: NC_000012.12:g.53180935A>C, NC_000012.12:g.53180935A>G, NC_000012.11:g.53574719A>C, NC_000012.11:g.53574719A>G, NG_030036.1:g.4975T>G, NG_030036.1:g.4975T>C

Select item 148858549617.

rs1488585496 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 12:53182090 (GRCh38)
12:53575874 (GRCh37)
Canonical SPDI:: NC_000012.12:53182089:T:C
Gene:: CSAD (Varview), ZNF740 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000011/3 (TOPMED)
C=0.000021/3 (GnomAD)
HGVS:: NC_000012.12:g.53182090T>C, NC_000012.11:g.53575874T>C, NG_030036.1:g.3820A>G

Select item 148857572918.

rs1488575729 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 12:53184169 (GRCh38)
12:53577953 (GRCh37)
Canonical SPDI:: NC_000012.12:53184168:G:T
Gene:: ZNF740 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000016/2 (GnomAD)
HGVS:: NC_000012.12:g.53184169G>T, NC_000012.11:g.53577953G>T, NG_030036.1:g.1741C>A

Select item 148848584519.

rs1488485845 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 12:53186746 (GRCh38)
12:53580530 (GRCh37)
Canonical SPDI:: NC_000012.12:53186745:G:A
Gene:: ZNF740 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000012.12:g.53186746G>A, NC_000012.11:g.53580530G>A

Select item 148846219320.

rs1488462193 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 12:53187366 (GRCh38)
12:53581150 (GRCh37)
Canonical SPDI:: NC_000012.12:53187365:A:T
Gene:: ZNF740 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000012.12:g.53187366A>T, NC_000012.11:g.53581150A>T

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