SNP Links for Gene (Select 3338) - SNP

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Select item 14910893071.

rs1491089307 has merged into rs35004947 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTT>-,T,TT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 11:64231350 (GRCh38)
11:63998822 (GRCh37)
Canonical SPDI:: NC_000011.10:64231342:TTTTTTTTTTTTTTTTTT:TTTTTTT,NC_000011.10:64231342:TTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000011.10:64231342:TTTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000011.10:64231342:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000011.10:64231342:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000011.10:64231342:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000011.10:64231342:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000011.10:64231342:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000011.10:64231342:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000011.10:64231342:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000011.10:64231342:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000011.10:64231342:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000011.10:64231342:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:64231342:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:64231342:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000011.10:64231342:TTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: DNAJC4 (Varview), LOC124902687 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTT=0./0 (ALFA)
-=0.0618/238 (ALSPAC)
-=0.072/267 (TWINSUK)
T=0.4688/2348 (1000Genomes)
HGVS:: NC_000011.10:g.64231350_64231360del, NC_000011.10:g.64231351_64231360del, NC_000011.10:g.64231352_64231360del, NC_000011.10:g.64231354_64231360del, NC_000011.10:g.64231355_64231360del, NC_000011.10:g.64231356_64231360del, NC_000011.10:g.64231358_64231360del, NC_000011.10:g.64231359_64231360del, NC_000011.10:g.64231360del, NC_000011.10:g.64231360dup, NC_000011.10:g.64231359_64231360dup, NC_000011.10:g.64231358_64231360dup, NC_000011.10:g.64231357_64231360dup, NC_000011.10:g.64231356_64231360dup, NC_000011.10:g.64231354_64231360dup, NC_000011.10:g.64231351_64231360dup, NC_000011.9:g.63998822_63998832del, NC_000011.9:g.63998823_63998832del, NC_000011.9:g.63998824_63998832del, NC_000011.9:g.63998826_63998832del, NC_000011.9:g.63998827_63998832del, NC_000011.9:g.63998828_63998832del, NC_000011.9:g.63998830_63998832del, NC_000011.9:g.63998831_63998832del, NC_000011.9:g.63998832del, NC_000011.9:g.63998832dup, NC_000011.9:g.63998831_63998832dup, NC_000011.9:g.63998830_63998832dup, NC_000011.9:g.63998829_63998832dup, NC_000011.9:g.63998828_63998832dup, NC_000011.9:g.63998826_63998832dup, NC_000011.9:g.63998823_63998832dup, NG_029823.1:g.1767_1777del, NG_029823.1:g.1768_1777del, NG_029823.1:g.1769_1777del, NG_029823.1:g.1771_1777del, NG_029823.1:g.1772_1777del, NG_029823.1:g.1773_1777del, NG_029823.1:g.1775_1777del, NG_029823.1:g.1776_1777del, NG_029823.1:g.1777del, NG_029823.1:g.1777dup, NG_029823.1:g.1776_1777dup, NG_029823.1:g.1775_1777dup, NG_029823.1:g.1774_1777dup, NG_029823.1:g.1773_1777dup, NG_029823.1:g.1771_1777dup, NG_029823.1:g.1768_1777dup, XR_007062713.1:n.18_28del, XR_007062713.1:n.19_28del, XR_007062713.1:n.20_28del, XR_007062713.1:n.22_28del, XR_007062713.1:n.23_28del, XR_007062713.1:n.24_28del, XR_007062713.1:n.26_28del, XR_007062713.1:n.27_28del, XR_007062713.1:n.28del, XR_007062713.1:n.28dup, XR_007062713.1:n.27_28dup, XR_007062713.1:n.26_28dup, XR_007062713.1:n.25_28dup, XR_007062713.1:n.24_28dup, XR_007062713.1:n.22_28dup, XR_007062713.1:n.19_28dup

Select item 14907790092.

rs1490779009 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:64232947 (GRCh38)
11:64000419 (GRCh37)
Canonical SPDI:: NC_000011.10:64232946:C:T
Gene:: DNAJC4 (Varview), VEGFB (Varview), LOC124902687 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.64232947C>T, NC_000011.9:g.64000419C>T, NG_029823.1:g.3364C>T

Select item 14905068253.

rs1490506825 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:64234151 (GRCh38)
11:64001623 (GRCh37)
Canonical SPDI:: NC_000011.10:64234150:C:T
Gene:: DNAJC4 (Varview), VEGFB (Varview)
Functional Consequence:: coding_sequence_variant,2KB_upstream_variant,3_prime_UTR_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.64234151C>T, NC_000011.9:g.64001623C>T, NG_029823.1:g.4568C>T, NM_005528.4:c.693C>T, NM_005528.3:c.693C>T, NM_001307980.1:c.*38C>T, NM_001307981.1:c.*38C>T, XM_047426865.1:c.696C>T

Select item 14900364754.

rs1490036475 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:64234739 (GRCh38)
11:64002211 (GRCh37)
Canonical SPDI:: NC_000011.10:64234738:C:A,NC_000011.10:64234738:C:T
Gene:: DNAJC4 (Varview), VEGFB (Varview)
Functional Consequence:: 5_prime_UTR_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
HGVS:: NC_000011.10:g.64234739C>A, NC_000011.10:g.64234739C>T, NC_000011.9:g.64002211C>A, NC_000011.9:g.64002211C>T, NG_029823.1:g.5156C>A, NG_029823.1:g.5156C>T, NM_003377.5:c.-95C>A, NM_003377.5:c.-95C>T, NM_003377.4:c.-95C>A, NM_003377.4:c.-95C>T, NM_001243733.2:c.-95C>A, NM_001243733.2:c.-95C>T, NM_001243733.1:c.-95C>A, NM_001243733.1:c.-95C>T

Select item 14900078605.

rs1490007860 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 11:64234263 (GRCh38)
11:64001735 (GRCh37)
Canonical SPDI:: NC_000011.10:64234262:C:A
Gene:: DNAJC4 (Varview), VEGFB (Varview)
Functional Consequence:: 3_prime_UTR_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000011/3 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.64234263C>A, NC_000011.9:g.64001735C>A, NG_029823.1:g.4680C>A, NM_005528.4:c.*79C>A, NM_005528.3:c.*79C>A, NM_001307980.1:c.*150C>A, NM_001307981.1:c.*150C>A, XM_047426865.1:c.*79C>A

Select item 14899537726.

rs1489953772 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 11:64231965 (GRCh38)
11:63999437 (GRCh37)
Canonical SPDI:: NC_000011.10:64231964:G:A,NC_000011.10:64231964:G:C
Gene:: DNAJC4 (Varview), LOC124902687 (Varview)
Functional Consequence:: 2KB_upstream_variant,splice_donor_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000007/1 (GnomAD)
HGVS:: NC_000011.10:g.64231965G>A, NC_000011.10:g.64231965G>C, NC_000011.9:g.63999437G>A, NC_000011.9:g.63999437G>C, NG_029823.1:g.2382G>A, NG_029823.1:g.2382G>C

Select item 14894557297.

rs1489455729 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 11:64230695 (GRCh38)
11:63998167 (GRCh37)
Canonical SPDI:: NC_000011.10:64230694:T:G
Gene:: DNAJC4 (Varview), NUDT22 (Varview), LOC124902687 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: G=0.000009/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.64230695T>G, NC_000011.9:g.63998167T>G, NG_029823.1:g.1112T>G, NM_005528.4:c.-160T>G, NM_005528.3:c.-160T>G, NM_001307980.1:c.-160T>G, NM_001307981.1:c.-160T>G, XM_047426865.1:c.-160T>G

Select item 14893541158.

rs1489354115 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 11:64228628 (GRCh38)
11:63996100 (GRCh37)
Canonical SPDI:: NC_000011.10:64228627:C:A,NC_000011.10:64228627:C:T
Gene:: DNAJC4 (Varview), NUDT22 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.00055/9 (ALFA)
HGVS:: NC_000011.10:g.64228628C>A, NC_000011.10:g.64228628C>T, NC_000011.9:g.63996100C>A, NC_000011.9:g.63996100C>T

Select item 14891665009.

rs1489166500 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 11:64231147 (GRCh38)
11:63998619 (GRCh37)
Canonical SPDI:: NC_000011.10:64231146:G:A
Gene:: DNAJC4 (Varview), LOC124902687 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
HGVS:: NC_000011.10:g.64231147G>A, NC_000011.9:g.63998619G>A, NG_029823.1:g.1564G>A

Select item 148850682610.

rs1488506826 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 11:64230280 (GRCh38)
11:63997752 (GRCh37)
Canonical SPDI:: NC_000011.10:64230279:AAA:AA
Gene:: DNAJC4 (Varview), NUDT22 (Varview), LOC124902687 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000007/1 (GnomAD)
-=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.64230282del, NC_000011.9:g.63997754del, NG_029823.1:g.699del

Select item 148839640311.

rs1488396403 [Homo sapiens]

Variant type:: DELINS
Alleles:: CCC>-,CCCCCC [Show Flanks]
Chromosome:: 11:64229225 (GRCh38)
11:63996697 (GRCh37)
Canonical SPDI:: NC_000011.10:64229221:CCCCCC:CCC,NC_000011.10:64229221:CCCCCC:CCCCCCCCC
Gene:: DNAJC4 (Varview), NUDT22 (Varview), LOC124902687 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: CCCCCCCCC=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.64229225_64229227del, NC_000011.10:g.64229225_64229227dup, NC_000011.9:g.63996697_63996699del, NC_000011.9:g.63996697_63996699dup, XR_007062713.1:n.1017_1019del, XR_007062713.1:n.1017_1019dup

Select item 148826038812.

rs1488260388 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:64233414 (GRCh38)
11:64000886 (GRCh37)
Canonical SPDI:: NC_000011.10:64233413:T:C
Gene:: DNAJC4 (Varview), VEGFB (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_000011.10:g.64233414T>C, NC_000011.9:g.64000886T>C, NG_029823.1:g.3831T>C

Select item 148813081313.

rs1488130813 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C,G [Show Flanks]
Chromosome:: 11:64232650 (GRCh38)
11:64000122 (GRCh37)
Canonical SPDI:: NC_000011.10:64232649:A:C,NC_000011.10:64232649:A:G
Gene:: DNAJC4 (Varview), VEGFB (Varview), LOC124902687 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000011.10:g.64232650A>C, NC_000011.10:g.64232650A>G, NC_000011.9:g.64000122A>C, NC_000011.9:g.64000122A>G, NG_029823.1:g.3067A>C, NG_029823.1:g.3067A>G

Select item 148773873514.

rs1487738735 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:64232452 (GRCh38)
11:63999924 (GRCh37)
Canonical SPDI:: NC_000011.10:64232451:G:T
Gene:: DNAJC4 (Varview), LOC124902687 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant,2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000011.10:g.64232452G>T, NC_000011.9:g.63999924G>T, NG_029823.1:g.2869G>T, NM_005528.4:c.203G>T, NM_005528.3:c.203G>T, NM_001307980.1:c.203G>T, NM_001307981.1:c.203G>T, XM_047426865.1:c.203G>T, NP_005519.2:p.Gly68Val, NP_001294909.1:p.Gly68Val, NP_001294910.1:p.Gly68Val, XP_047282821.1:p.Gly68Val

Select item 148722504415.

rs1487225044 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 11:64230415 (GRCh38)
11:63997887 (GRCh37)
Canonical SPDI:: NC_000011.10:64230414:T:C
Gene:: DNAJC4 (Varview), NUDT22 (Varview), LOC124902687 (Varview)
Functional Consequence:: upstream_transcript_variant,intron_variant,2KB_upstream_variant,downstream_transcript_variant,500B_downstream_variant
Validated:: by frequency
MAF:: C=0.000008/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.64230415T>C, NC_000011.9:g.63997887T>C, NG_029823.1:g.832T>C

Select item 148714815816.

rs1487148158 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 11:64232122 (GRCh38)
11:63999594 (GRCh37)
Canonical SPDI:: NC_000011.10:64232121:G:T
Gene:: DNAJC4 (Varview), LOC124902687 (Varview)
Functional Consequence:: intron_variant,2KB_upstream_variant,upstream_transcript_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_000011.10:g.64232122G>T, NC_000011.9:g.63999594G>T, NG_029823.1:g.2539G>T

Select item 148710714117.

rs1487107141 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 11:64229550 (GRCh38)
11:63997022 (GRCh37)
Canonical SPDI:: NC_000011.10:64229549:A:C
Gene:: DNAJC4 (Varview), NUDT22 (Varview), LOC124902687 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,2KB_upstream_variant,synonymous_variant,upstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000011.10:g.64229550A>C, NC_000011.9:g.63997022A>C, NM_032344.4:c.750A>C, NM_032344.3:c.750A>C, NM_001128613.3:c.651A>C, NM_001128613.2:c.651A>C, NM_001128612.3:c.750A>C, NM_001128612.2:c.750A>C, NM_001271831.2:c.651A>C, NM_001271831.1:c.651A>C, XM_047427701.1:c.843A>C, XM_047427703.1:c.750A>C, XM_047427705.1:c.651A>C, XM_047427699.1:c.864A>C, XM_047427702.1:c.864A>C, XR_007062713.1:n.691T>G, XM_047427700.1:c.843A>C, XM_047427704.1:c.771A>C, XM_047427707.1:c.750A>C

Select item 148693326718.

rs1486933267 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 11:64231369 (GRCh38)
11:63998841 (GRCh37)
Canonical SPDI:: NC_000011.10:64231368:G:A,NC_000011.10:64231368:G:T
Gene:: DNAJC4 (Varview), LOC124902687 (Varview)
Functional Consequence:: non_coding_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000024/3 (GnomAD)
HGVS:: NC_000011.10:g.64231369G>A, NC_000011.10:g.64231369G>T, NC_000011.9:g.63998841G>A, NC_000011.9:g.63998841G>T, NG_029823.1:g.1786G>A, NG_029823.1:g.1786G>T, XR_007062713.1:n.2C>T, XR_007062713.1:n.2C>A

Select item 148674758319.

rs1486747583 has merged into rs10708923 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAA>-,A,AA,AAA,AAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 11:64230107 (GRCh38)
11:63997579 (GRCh37)
Canonical SPDI:: NC_000011.10:64230094:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000011.10:64230094:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000011.10:64230094:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000011.10:64230094:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000011.10:64230094:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000011.10:64230094:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000011.10:64230094:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000011.10:64230094:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000011.10:64230094:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000011.10:64230094:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: DNAJC4 (Varview), NUDT22 (Varview), LOC124902687 (Varview)
Functional Consequence:: 2KB_upstream_variant,intron_variant,genic_downstream_transcript_variant,downstream_transcript_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
-=0.05189/200 (ALSPAC)
-=0.375/15 (GENOME_DK)
-=0.42432/2125 (1000Genomes)
HGVS:: NC_000011.10:g.64230107_64230111del, NC_000011.10:g.64230108_64230111del, NC_000011.10:g.64230109_64230111del, NC_000011.10:g.64230110_64230111del, NC_000011.10:g.64230111del, NC_000011.10:g.64230111dup, NC_000011.10:g.64230110_64230111dup, NC_000011.10:g.64230109_64230111dup, NC_000011.10:g.64230108_64230111dup, NC_000011.10:g.64230104_64230111dup, NC_000011.9:g.63997579_63997583del, NC_000011.9:g.63997580_63997583del, NC_000011.9:g.63997581_63997583del, NC_000011.9:g.63997582_63997583del, NC_000011.9:g.63997583del, NC_000011.9:g.63997583dup, NC_000011.9:g.63997582_63997583dup, NC_000011.9:g.63997581_63997583dup, NC_000011.9:g.63997580_63997583dup, NC_000011.9:g.63997576_63997583dup, NG_029823.1:g.524_528del, NG_029823.1:g.525_528del, NG_029823.1:g.526_528del, NG_029823.1:g.527_528del, NG_029823.1:g.528del, NG_029823.1:g.528dup, NG_029823.1:g.527_528dup, NG_029823.1:g.526_528dup, NG_029823.1:g.525_528dup, NG_029823.1:g.521_528dup

Select item 148665024320.

rs1486650243 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 11:64234352 (GRCh38)
11:64001824 (GRCh37)
Canonical SPDI:: NC_000011.10:64234351:C:T
Gene:: DNAJC4 (Varview), VEGFB (Varview)
Functional Consequence:: upstream_transcript_variant,downstream_transcript_variant,2KB_upstream_variant,500B_downstream_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000011.10:g.64234352C>T, NC_000011.9:g.64001824C>T, NG_029823.1:g.4769C>T

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