SNP Links for Gene (Select 131474) - SNP

Links from Gene

Items: 1 to 20 of 3422

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Select item 14907918501.

rs1490791850 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:14112215 (GRCh38)
3:14153715 (GRCh37)
Canonical SPDI:: NC_000003.12:14112214:G:C
Gene:: CHCHD4 (Varview)
Functional Consequence:: 3_prime_UTR_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_000003.12:g.14112215G>C, NC_000003.11:g.14153715G>C, NM_144636.3:c.*672C>G, NM_144636.2:c.*672C>G, NM_001098502.2:c.*672C>G, NM_001098502.1:c.*672C>G

Select item 14906183832.

rs1490618383 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:14125796 (GRCh38)
3:14167296 (GRCh37)
Canonical SPDI:: NC_000003.12:14125795:C:T
Gene:: TMEM43 (Varview), CHCHD4 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.14125796C>T, NC_000003.11:g.14167296C>T, NG_008975.1:g.5857C>T

Select item 14905070213.

rs1490507021 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:14118594 (GRCh38)
3:14160094 (GRCh37)
Canonical SPDI:: NC_000003.12:14118593:G:A
Gene:: CHCHD4 (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.14118594G>A, NC_000003.11:g.14160094G>A

Select item 14903945554.

rs1490394555 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 3:14119714 (GRCh38)
3:14161214 (GRCh37)
Canonical SPDI:: NC_000003.12:14119713:C:T
Gene:: CHCHD4 (Varview)
Functional Consequence:: intron_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_000003.12:g.14119714C>T, NC_000003.11:g.14161214C>T

Select item 14903690745.

rs1490369074 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:14119821 (GRCh38)
3:14161321 (GRCh37)
Canonical SPDI:: NC_000003.12:14119820:G:A
Gene:: CHCHD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000003.12:g.14119821G>A, NC_000003.11:g.14161321G>A

Select item 14902614286.

rs1490261428 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:14123612 (GRCh38)
3:14165112 (GRCh37)
Canonical SPDI:: NC_000003.12:14123611:G:A
Gene:: TMEM43 (Varview), CHCHD4 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000066/1 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
A=0.000223/1 (Estonian)
HGVS:: NC_000003.12:g.14123612G>A, NC_000003.11:g.14165112G>A, NG_008975.1:g.3673G>A

Select item 14902159277.

rs1490215927 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 3:14121314 (GRCh38)
3:14162814 (GRCh37)
Canonical SPDI:: NC_000003.12:14121313:A:T
Gene:: CHCHD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.14121314A>T, NC_000003.11:g.14162814A>T, NG_008975.1:g.1375A>T

Select item 14893483338.

rs1489348333 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 3:14123635 (GRCh38)
3:14165135 (GRCh37)
Canonical SPDI:: NC_000003.12:14123634:G:C
Gene:: TMEM43 (Varview), CHCHD4 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.14123635G>C, NC_000003.11:g.14165135G>C, NG_008975.1:g.3696G>C

Select item 14892561329.

rs1489256132 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:14117664 (GRCh38)
3:14159164 (GRCh37)
Canonical SPDI:: NC_000003.12:14117663:G:A
Gene:: CHCHD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.14117664G>A, NC_000003.11:g.14159164G>A

Select item 148908931610.

rs1489089316 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->C [Show Flanks]
Chromosome:: 3:14124457 (GRCh38)
3:14165958 (GRCh37)
Canonical SPDI:: NC_000003.12:14124457:CCCCCC:CCCCCCC
Gene:: TMEM43 (Varview), CHCHD4 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CCCCCCC=0./0 (ALFA)
C=0.000014/2 (GnomAD)
C=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.14124463dup, NC_000003.11:g.14165963dup, NG_008975.1:g.4524dup

Select item 148907825311.

rs1489078253 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 3:14121939 (GRCh38)
3:14163439 (GRCh37)
Canonical SPDI:: NC_000003.12:14121938:G:A,NC_000003.12:14121938:G:T
Gene:: CHCHD4 (Varview)
Functional Consequence:: coding_sequence_variant,intron_variant,stop_gained,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000003.12:g.14121939G>A, NC_000003.12:g.14121939G>T, NC_000003.11:g.14163439G>A, NC_000003.11:g.14163439G>T, NG_008975.1:g.2000G>A, NG_008975.1:g.2000G>T, NM_144636.3:c.39C>T, NM_144636.3:c.39C>A, NM_144636.2:c.39C>T, NM_144636.2:c.39C>A, NP_653237.1:p.Tyr13Ter

Select item 148892751112.

rs1488927511 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 3:14117183 (GRCh38)
3:14158683 (GRCh37)
Canonical SPDI:: NC_000003.12:14117182:A:C
Gene:: CHCHD4 (Varview)
Functional Consequence:: intron_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_000003.12:g.14117183A>C, NC_000003.11:g.14158683A>C

Select item 148874471013.

rs1488744710 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 3:14117528 (GRCh38)
3:14159028 (GRCh37)
Canonical SPDI:: NC_000003.12:14117527:T:C
Gene:: CHCHD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: C=0./0 (ALFA)
C=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.14117528T>C, NC_000003.11:g.14159028T>C

Select item 148866880214.

rs1488668802 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:14123366 (GRCh38)
3:14164866 (GRCh37)
Canonical SPDI:: NC_000003.12:14123365:G:A
Gene:: TMEM43 (Varview), CHCHD4 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.14123366G>A, NC_000003.11:g.14164866G>A, NG_008975.1:g.3427G>A

Select item 148840550215.

rs1488405502 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 3:14118603 (GRCh38)
3:14160103 (GRCh37)
Canonical SPDI:: NC_000003.12:14118602:C:G
Gene:: CHCHD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000003.12:g.14118603C>G, NC_000003.11:g.14160103C>G

Select item 148836150016.

rs1488361500 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:14126735 (GRCh38)
3:14168235 (GRCh37)
Canonical SPDI:: NC_000003.12:14126734:A:G
Gene:: TMEM43 (Varview), CHCHD4 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.14126735A>G, NC_000003.11:g.14168235A>G, NG_008975.1:g.6796A>G

Select item 148747816417.

rs1487478164 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 3:14123425 (GRCh38)
3:14164925 (GRCh37)
Canonical SPDI:: NC_000003.12:14123424:A:G
Gene:: TMEM43 (Varview), CHCHD4 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000011/3 (TOPMED)
HGVS:: NC_000003.12:g.14123425A>G, NC_000003.11:g.14164925A>G, NG_008975.1:g.3486A>G

Select item 148719414018.

rs1487194140 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:14125396 (GRCh38)
3:14166896 (GRCh37)
Canonical SPDI:: NC_000003.12:14125395:T:G
Gene:: TMEM43 (Varview), CHCHD4 (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000003.12:g.14125396T>G, NC_000003.11:g.14166896T>G, NG_008975.1:g.5457T>G

Select item 148698062319.

rs1486980623 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 3:14116013 (GRCh38)
3:14157513 (GRCh37)
Canonical SPDI:: NC_000003.12:14116012:G:A
Gene:: CHCHD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000003.12:g.14116013G>A, NC_000003.11:g.14157513G>A

Select item 148687471720.

rs1486874717 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 3:14115017 (GRCh38)
3:14156517 (GRCh37)
Canonical SPDI:: NC_000003.12:14115016:T:G
Gene:: CHCHD4 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000015/4 (TOPMED)
HGVS:: NC_000003.12:g.14115017T>G, NC_000003.11:g.14156517T>G

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