SNP Links for Gene (Select 63979) - SNP

Select item 14912999631.

rs1491299963 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->A [Show Flanks]
Chromosome:: 7:50447143 (GRCh38)
7:50514842 (GRCh37)
Canonical SPDI:: NC_000007.14:50447143:A:AA
Gene:: FIGNL1 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000007.14:g.50447144dup, NC_000007.13:g.50514842dup, NG_051949.1:g.8263dup, NM_022116.7:c.144dup, NM_022116.6:c.144dup, NM_022116.5:c.144dup, NM_022116.4:c.144dup, NM_022116.3:c.144dup, NM_001042762.5:c.144dup, NM_001042762.4:c.144dup, NM_001042762.3:c.144dup, NM_001042762.2:c.144dup, NM_001042762.1:c.144dup, NM_001287492.4:c.144dup, NM_001287492.3:c.144dup, NM_001287492.2:c.144dup, NM_001287492.1:c.144dup, NM_001287494.4:c.144dup, NM_001287494.3:c.144dup, NM_001287494.2:c.144dup, NM_001287494.1:c.144dup, NM_001287496.4:c.-75dup, NM_001287496.3:c.-75dup, NM_001287496.2:c.-75dup, NM_001287496.1:c.-75dup, NM_001346565.3:c.144dup, NM_001346565.2:c.144dup, NM_001346565.1:c.144dup, NM_001346558.3:c.-75dup, NM_001346558.2:c.-75dup, NM_001346558.1:c.-75dup, NM_001346563.3:c.144dup, NM_001346563.2:c.144dup, NM_001346563.1:c.144dup, NM_001346560.3:c.144dup, NM_001346560.2:c.144dup, NM_001346560.1:c.144dup, NM_001346559.3:c.-75dup, NM_001346559.2:c.-75dup, NM_001346559.1:c.-75dup, NM_001346564.3:c.144dup, NM_001346564.2:c.144dup, NM_001346564.1:c.144dup, NM_001346561.3:c.144dup, NM_001346561.2:c.144dup, NM_001346561.1:c.144dup, NM_001346562.3:c.144dup, NM_001346562.2:c.144dup, NM_001346562.1:c.144dup, NM_001287493.3:c.144dup, NM_001287493.2:c.144dup, NM_001287493.1:c.144dup, NM_001287495.3:c.144dup, NM_001287495.2:c.144dup, NM_001287495.1:c.144dup, XM_011515470.4:c.144dup, XM_011515470.3:c.144dup, XM_011515470.2:c.144dup, XM_011515470.1:c.144dup, XM_017012501.2:c.144dup, XM_017012501.1:c.144dup, XM_024446864.2:c.144dup, XM_024446864.1:c.144dup, XM_024446863.2:c.144dup, XM_024446863.1:c.144dup, XM_024446865.2:c.144dup, XM_024446865.1:c.144dup, XM_047420693.1:c.144dup, NP_071399.2:p.Glu49Ter, NP_001036227.1:p.Glu49Ter, NP_001274421.1:p.Glu49Ter, NP_001274423.1:p.Glu49Ter, NP_001333494.1:p.Glu49Ter, NP_001333492.1:p.Glu49Ter, NP_001333489.1:p.Glu49Ter, NP_001333493.1:p.Glu49Ter, NP_001333490.1:p.Glu49Ter, NP_001333491.1:p.Glu49Ter, NP_001274422.1:p.Glu49Ter, NP_001274424.1:p.Glu49Ter, XP_011513772.1:p.Glu49Ter, XP_016867990.1:p.Glu49Ter, XP_024302632.1:p.Glu49Ter, XP_024302631.1:p.Glu49Ter, XP_024302633.1:p.Glu49Ter, XP_047276649.1:p.Glu49Ter

Select item 14911866942.

rs1491186694 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 7:50447143 (GRCh38)
7:50514841 (GRCh37)
Canonical SPDI:: NC_000007.14:50447142:CA:
Gene:: FIGNL1 (Varview)
Functional Consequence:: frameshift_variant,coding_sequence_variant,5_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000004/1 (GnomAD_exomes)
-=0.000004/1 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.50447143_50447144del, NC_000007.13:g.50514841_50514842del, NG_051949.1:g.8263_8264del, NM_022116.7:c.144_145del, NM_022116.6:c.144_145del, NM_022116.5:c.144_145del, NM_022116.4:c.144_145del, NM_022116.3:c.144_145del, NM_001042762.5:c.144_145del, NM_001042762.4:c.144_145del, NM_001042762.3:c.144_145del, NM_001042762.2:c.144_145del, NM_001042762.1:c.144_145del, NM_001287492.4:c.144_145del, NM_001287492.3:c.144_145del, NM_001287492.2:c.144_145del, NM_001287492.1:c.144_145del, NM_001287494.4:c.144_145del, NM_001287494.3:c.144_145del, NM_001287494.2:c.144_145del, NM_001287494.1:c.144_145del, NM_001287496.4:c.-75_-74del, NM_001287496.3:c.-75_-74del, NM_001287496.2:c.-75_-74del, NM_001287496.1:c.-75_-74del, NM_001346565.3:c.144_145del, NM_001346565.2:c.144_145del, NM_001346565.1:c.144_145del, NM_001346558.3:c.-75_-74del, NM_001346558.2:c.-75_-74del, NM_001346558.1:c.-75_-74del, NM_001346563.3:c.144_145del, NM_001346563.2:c.144_145del, NM_001346563.1:c.144_145del, NM_001346560.3:c.144_145del, NM_001346560.2:c.144_145del, NM_001346560.1:c.144_145del, NM_001346559.3:c.-75_-74del, NM_001346559.2:c.-75_-74del, NM_001346559.1:c.-75_-74del, NM_001346564.3:c.144_145del, NM_001346564.2:c.144_145del, NM_001346564.1:c.144_145del, NM_001346561.3:c.144_145del, NM_001346561.2:c.144_145del, NM_001346561.1:c.144_145del, NM_001346562.3:c.144_145del, NM_001346562.2:c.144_145del, NM_001346562.1:c.144_145del, NM_001287493.3:c.144_145del, NM_001287493.2:c.144_145del, NM_001287493.1:c.144_145del, NM_001287495.3:c.144_145del, NM_001287495.2:c.144_145del, NM_001287495.1:c.144_145del, XM_011515470.4:c.144_145del, XM_011515470.3:c.144_145del, XM_011515470.2:c.144_145del, XM_011515470.1:c.144_145del, XM_017012501.2:c.144_145del, XM_017012501.1:c.144_145del, XM_024446864.2:c.144_145del, XM_024446864.1:c.144_145del, XM_024446863.2:c.144_145del, XM_024446863.1:c.144_145del, XM_024446865.2:c.144_145del, XM_024446865.1:c.144_145del, XM_047420693.1:c.144_145del, NP_071399.2:p.Glu49fs, NP_001036227.1:p.Glu49fs, NP_001274421.1:p.Glu49fs, NP_001274423.1:p.Glu49fs, NP_001333494.1:p.Glu49fs, NP_001333492.1:p.Glu49fs, NP_001333489.1:p.Glu49fs, NP_001333493.1:p.Glu49fs, NP_001333490.1:p.Glu49fs, NP_001333491.1:p.Glu49fs, NP_001274422.1:p.Glu49fs, NP_001274424.1:p.Glu49fs, XP_011513772.1:p.Glu49fs, XP_016867990.1:p.Glu49fs, XP_024302632.1:p.Glu49fs, XP_024302631.1:p.Glu49fs, XP_024302633.1:p.Glu49fs, XP_047276649.1:p.Glu49fs

Select item 14909504883.

rs1490950488 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 7:50441925 (GRCh38)
7:50509623 (GRCh37)
Canonical SPDI:: NC_000007.14:50441924:A:T
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.50441925A>T, NC_000007.13:g.50509623A>T, NG_051949.1:g.13482T>A, NM_001042762.4:c.*3338T>A, NM_022116.6:c.*3338T>A, NM_022116.5:c.*3338T>A, NM_001287492.3:c.*3338T>A, NM_001042762.3:c.*3338T>A, NM_001287494.3:c.*3338T>A, NM_001287496.3:c.*3338T>A, NM_001346565.2:c.*3338T>A, NM_001287492.2:c.*3338T>A, NM_001346558.2:c.*3338T>A, NM_001346563.2:c.*3338T>A, NM_001346560.2:c.*3338T>A, NM_001346559.2:c.*3338T>A, NM_001346564.2:c.*3338T>A, NM_001346561.2:c.*3338T>A, NM_001346562.2:c.*3338T>A, NM_001287493.2:c.*3338T>A, NM_001287494.2:c.*3338T>A, NM_001287495.2:c.*3338T>A, NM_001287496.2:c.*3338T>A, NM_001346565.1:c.*3338T>A, NM_001346558.1:c.*3338T>A, NM_001346563.1:c.*3338T>A, NM_001346560.1:c.*3338T>A, NM_001346559.1:c.*3338T>A, NM_001346564.1:c.*3338T>A, NM_001346561.1:c.*3338T>A, NM_001346562.1:c.*3338T>A

Select item 14908231884.

rs1490823188 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:50450084 (GRCh38)
7:50517782 (GRCh37)
Canonical SPDI:: NC_000007.14:50450083:G:A
Gene:: FIGNL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
A=0.000014/2 (GnomAD)
HGVS:: NC_000007.14:g.50450084G>A, NC_000007.13:g.50517782G>A, NG_051949.1:g.5323C>T, NG_078344.1:g.314G>A

Select item 14906860035.

rs1490686003 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACT>- [Show Flanks]
Chromosome:: 7:50445047 (GRCh38)
7:50512745 (GRCh37)
Canonical SPDI:: NC_000007.14:50445044:CTCACT:CT
Gene:: FIGNL1 (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CT=0./0 (ALFA)
-=0.000019/5 (TOPMED)
-=0.000021/3 (GnomAD)
HGVS:: NC_000007.14:g.50445047_50445050del, NC_000007.13:g.50512745_50512748del, NG_051949.1:g.10359_10362del, NM_022116.7:c.*215_*218del, NM_022116.6:c.*215_*218del, NM_022116.5:c.*215_*218del, NM_022116.4:c.*215_*218del, NM_022116.3:c.*215_*218del, NM_001042762.5:c.*215_*218del, NM_001042762.4:c.*215_*218del, NM_001042762.3:c.*215_*218del, NM_001042762.2:c.*215_*218del, NM_001042762.1:c.*215_*218del, NM_001287492.4:c.*215_*218del, NM_001287492.3:c.*215_*218del, NM_001287492.2:c.*215_*218del, NM_001287492.1:c.*215_*218del, NM_001287494.4:c.*215_*218del, NM_001287494.3:c.*215_*218del, NM_001287494.2:c.*215_*218del, NM_001287494.1:c.*215_*218del, NM_001287496.4:c.*215_*218del, NM_001287496.3:c.*215_*218del, NM_001287496.2:c.*215_*218del, NM_001287496.1:c.*215_*218del, NM_001346565.3:c.*215_*218del, NM_001346565.2:c.*215_*218del, NM_001346565.1:c.*215_*218del, NM_001346558.3:c.*215_*218del, NM_001346558.2:c.*215_*218del, NM_001346558.1:c.*215_*218del, NM_001346563.3:c.*215_*218del, NM_001346563.2:c.*215_*218del, NM_001346563.1:c.*215_*218del, NM_001346560.3:c.*215_*218del, NM_001346560.2:c.*215_*218del, NM_001346560.1:c.*215_*218del, NM_001346559.3:c.*215_*218del, NM_001346559.2:c.*215_*218del, NM_001346559.1:c.*215_*218del, NM_001346564.3:c.*215_*218del, NM_001346564.2:c.*215_*218del, NM_001346564.1:c.*215_*218del, NM_001346561.3:c.*215_*218del, NM_001346561.2:c.*215_*218del, NM_001346561.1:c.*215_*218del, NM_001346562.3:c.*215_*218del, NM_001346562.2:c.*215_*218del, NM_001346562.1:c.*215_*218del, NM_001287493.3:c.*215_*218del, NM_001287493.2:c.*215_*218del, NM_001287493.1:c.*215_*218del, NM_001287495.3:c.*215_*218del, NM_001287495.2:c.*215_*218del, NM_001287495.1:c.*215_*218del, XM_011515470.4:c.*215_*218del, XM_011515470.3:c.*215_*218del, XM_011515470.2:c.*215_*218del, XM_011515470.1:c.*215_*218del, XM_017012501.2:c.*215_*218del, XM_017012501.1:c.*215_*218del, XM_024446864.2:c.*215_*218del, XM_024446864.1:c.*215_*218del, XM_024446863.2:c.*215_*218del, XM_024446863.1:c.*215_*218del, XM_024446865.2:c.*215_*218del, XM_024446865.1:c.*215_*218del, XM_047420693.1:c.*215_*218del

Select item 14900408166.

rs1490040816 [Homo sapiens]

Variant type:: DELINS
Alleles:: A>- [Show Flanks]
Chromosome:: 7:50448447 (GRCh38)
7:50516145 (GRCh37)
Canonical SPDI:: NC_000007.14:50448446:AA:A
Gene:: FIGNL1 (Varview)
Functional Consequence:: 5_prime_UTR_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
-=0.000004/1 (TOPMED)
-=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.50448448del, NC_000007.13:g.50516146del, NG_051949.1:g.6960del, XM_017012501.2:c.-365del, XM_017012501.1:c.-365del, XM_047420693.1:c.-277del

Select item 14892837577.

rs1489283757 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 7:50451534 (GRCh38)
7:50519232 (GRCh37)
Canonical SPDI:: NC_000007.14:50451533:C:G,NC_000007.14:50451533:C:T
Gene:: FIGNL1 (Varview)
Functional Consequence:: 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_000007.14:g.50451534C>G, NC_000007.14:g.50451534C>T, NC_000007.13:g.50519232C>G, NC_000007.13:g.50519232C>T, NG_051949.1:g.3873G>C, NG_051949.1:g.3873G>A

Select item 14892542858.

rs1489254285 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:50450098 (GRCh38)
7:50517796 (GRCh37)
Canonical SPDI:: NC_000007.14:50450097:G:T
Gene:: FIGNL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.50450098G>T, NC_000007.13:g.50517796G>T, NG_051949.1:g.5309C>A, NG_078344.1:g.328G>T

Select item 14892035709.

rs1489203570 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:50447727 (GRCh38)
7:50515425 (GRCh37)
Canonical SPDI:: NC_000007.14:50447726:A:G
Gene:: FIGNL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
G=0.000014/2 (GnomAD)
G=0.001092/2 (Korea1K)
HGVS:: NC_000007.14:g.50447727A>G, NC_000007.13:g.50515425A>G, NG_051949.1:g.7680T>C

Select item 148919822610.

rs1489198226 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:50439445 (GRCh38)
7:50507143 (GRCh37)
Canonical SPDI:: NC_000007.14:50439444:T:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000019/5 (TOPMED)
C=0.000036/5 (GnomAD)
HGVS:: NC_000007.14:g.50439445T>C, NC_000007.13:g.50507143T>C, NG_051949.1:g.15962A>G, NM_001042762.4:c.*5818A>G, NM_022116.6:c.*5818A>G, NM_022116.5:c.*5818A>G, NM_001287492.3:c.*5818A>G, NM_001042762.3:c.*5818A>G, NM_001287494.3:c.*5818A>G, NM_001287496.3:c.*5818A>G, NM_001346565.2:c.*5818A>G, NM_001287492.2:c.*5818A>G, NM_001346558.2:c.*5818A>G, NM_001346563.2:c.*5818A>G, NM_001346560.2:c.*5818A>G, NM_001346559.2:c.*5818A>G, NM_001346564.2:c.*5818A>G, NM_001346561.2:c.*5818A>G, NM_001346562.2:c.*5818A>G, NM_001287493.2:c.*5818A>G, NM_001287494.2:c.*5818A>G, NM_001287495.2:c.*5818A>G, NM_001287496.2:c.*5818A>G, NM_001346565.1:c.*5818A>G, NM_001346558.1:c.*5818A>G, NM_001346563.1:c.*5818A>G, NM_001346560.1:c.*5818A>G, NM_001346559.1:c.*5818A>G, NM_001346564.1:c.*5818A>G, NM_001346561.1:c.*5818A>G, NM_001346562.1:c.*5818A>G

Select item 148885634511.

rs1488856345 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 7:50439939 (GRCh38)
7:50507637 (GRCh37)
Canonical SPDI:: NC_000007.14:50439938:G:A
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000029/4 (GnomAD)
A=0.000102/27 (TOPMED)
HGVS:: NC_000007.14:g.50439939G>A, NC_000007.13:g.50507637G>A, NG_051949.1:g.15468C>T, NM_001042762.4:c.*5324C>T, NM_022116.6:c.*5324C>T, NM_022116.5:c.*5324C>T, NM_001287492.3:c.*5324C>T, NM_001042762.3:c.*5324C>T, NM_001287494.3:c.*5324C>T, NM_001287496.3:c.*5324C>T, NM_001346565.2:c.*5324C>T, NM_001287492.2:c.*5324C>T, NM_001346558.2:c.*5324C>T, NM_001346563.2:c.*5324C>T, NM_001346560.2:c.*5324C>T, NM_001346559.2:c.*5324C>T, NM_001346564.2:c.*5324C>T, NM_001346561.2:c.*5324C>T, NM_001346562.2:c.*5324C>T, NM_001287493.2:c.*5324C>T, NM_001287494.2:c.*5324C>T, NM_001287495.2:c.*5324C>T, NM_001287496.2:c.*5324C>T, NM_001346565.1:c.*5324C>T, NM_001346558.1:c.*5324C>T, NM_001346563.1:c.*5324C>T, NM_001346560.1:c.*5324C>T, NM_001346559.1:c.*5324C>T, NM_001346564.1:c.*5324C>T, NM_001346561.1:c.*5324C>T, NM_001346562.1:c.*5324C>T

Select item 148880727112.

rs1488807271 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:50437259 (GRCh38)
7:50504957 (GRCh37)
Canonical SPDI:: NC_000007.14:50437258:T:C
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000224/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000007.14:g.50437259T>C, NC_000007.13:g.50504957T>C, NG_051949.1:g.18148A>G

Select item 148841304613.

rs1488413046 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 7:50450418 (GRCh38)
7:50518116 (GRCh37)
Canonical SPDI:: NC_000007.14:50450417:T:C
Gene:: FIGNL1 (Varview)
Functional Consequence:: 2KB_upstream_variant,upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.50450418T>C, NC_000007.13:g.50518116T>C, NG_051949.1:g.4989A>G

Select item 148835428814.

rs1488354288 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:50447623 (GRCh38)
7:50515321 (GRCh37)
Canonical SPDI:: NC_000007.14:50447622:A:G
Gene:: FIGNL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.50447623A>G, NC_000007.13:g.50515321A>G, NG_051949.1:g.7784T>C

Select item 148824918715.

rs1488249187 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 7:50438188 (GRCh38)
7:50505886 (GRCh37)
Canonical SPDI:: NC_000007.14:50438187:G:A,NC_000007.14:50438187:G:C
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000014/2 (GnomAD)
C=0.000035/1 (TOMMO)
HGVS:: NC_000007.14:g.50438188G>A, NC_000007.14:g.50438188G>C, NC_000007.13:g.50505886G>A, NC_000007.13:g.50505886G>C, NG_051949.1:g.17219C>T, NG_051949.1:g.17219C>G, NM_001042762.4:c.*7075C>T, NM_001042762.4:c.*7075C>G, NM_022116.6:c.*7075C>T, NM_022116.6:c.*7075C>G, NM_022116.5:c.*7075C>T, NM_022116.5:c.*7075C>G, NM_001287492.3:c.*7075C>T, NM_001287492.3:c.*7075C>G, NM_001042762.3:c.*7075C>T, NM_001042762.3:c.*7075C>G, NM_001287494.3:c.*7075C>T, NM_001287494.3:c.*7075C>G, NM_001287496.3:c.*7075C>T, NM_001287496.3:c.*7075C>G, NM_001346565.2:c.*7075C>T, NM_001346565.2:c.*7075C>G, NM_001287492.2:c.*7075C>T, NM_001287492.2:c.*7075C>G, NM_001346558.2:c.*7075C>T, NM_001346558.2:c.*7075C>G, NM_001346563.2:c.*7075C>T, NM_001346563.2:c.*7075C>G, NM_001346560.2:c.*7075C>T, NM_001346560.2:c.*7075C>G, NM_001346559.2:c.*7075C>T, NM_001346559.2:c.*7075C>G, NM_001346564.2:c.*7075C>T, NM_001346564.2:c.*7075C>G, NM_001346561.2:c.*7075C>T, NM_001346561.2:c.*7075C>G, NM_001346562.2:c.*7075C>T, NM_001346562.2:c.*7075C>G, NM_001287493.2:c.*7075C>T, NM_001287493.2:c.*7075C>G, NM_001287494.2:c.*7075C>T, NM_001287494.2:c.*7075C>G, NM_001287495.2:c.*7075C>T, NM_001287495.2:c.*7075C>G, NM_001287496.2:c.*7075C>T, NM_001287496.2:c.*7075C>G, NM_001346565.1:c.*7075C>T, NM_001346565.1:c.*7075C>G, NM_001346558.1:c.*7075C>T, NM_001346558.1:c.*7075C>G, NM_001346563.1:c.*7075C>T, NM_001346563.1:c.*7075C>G, NM_001346560.1:c.*7075C>T, NM_001346560.1:c.*7075C>G, NM_001346559.1:c.*7075C>T, NM_001346559.1:c.*7075C>G, NM_001346564.1:c.*7075C>T, NM_001346564.1:c.*7075C>G, NM_001346561.1:c.*7075C>T, NM_001346561.1:c.*7075C>G, NM_001346562.1:c.*7075C>T, NM_001346562.1:c.*7075C>G

Select item 148799726016.

rs1487997260 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 7:50446512 (GRCh38)
7:50514210 (GRCh37)
Canonical SPDI:: NC_000007.14:50446511:G:T
Gene:: FIGNL1 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000007.14:g.50446512G>T, NC_000007.13:g.50514210G>T, NG_051949.1:g.8895C>A, NM_022116.7:c.776C>A, NM_022116.6:c.776C>A, NM_022116.5:c.776C>A, NM_022116.4:c.776C>A, NM_022116.3:c.776C>A, NM_001042762.5:c.776C>A, NM_001042762.4:c.776C>A, NM_001042762.3:c.776C>A, NM_001042762.2:c.776C>A, NM_001042762.1:c.776C>A, NM_001287492.4:c.776C>A, NM_001287492.3:c.776C>A, NM_001287492.2:c.776C>A, NM_001287492.1:c.776C>A, NM_001287494.4:c.776C>A, NM_001287494.3:c.776C>A, NM_001287494.2:c.776C>A, NM_001287494.1:c.776C>A, NM_001287496.4:c.443C>A, NM_001287496.3:c.443C>A, NM_001287496.2:c.443C>A, NM_001287496.1:c.443C>A, NM_001346565.3:c.776C>A, NM_001346565.2:c.776C>A, NM_001346565.1:c.776C>A, NM_001346558.3:c.443C>A, NM_001346558.2:c.443C>A, NM_001346558.1:c.443C>A, NM_001346563.3:c.776C>A, NM_001346563.2:c.776C>A, NM_001346563.1:c.776C>A, NM_001346560.3:c.776C>A, NM_001346560.2:c.776C>A, NM_001346560.1:c.776C>A, NM_001346559.3:c.443C>A, NM_001346559.2:c.443C>A, NM_001346559.1:c.443C>A, NM_001346564.3:c.776C>A, NM_001346564.2:c.776C>A, NM_001346564.1:c.776C>A, NM_001346561.3:c.776C>A, NM_001346561.2:c.776C>A, NM_001346561.1:c.776C>A, NM_001346562.3:c.776C>A, NM_001346562.2:c.776C>A, NM_001346562.1:c.776C>A, NM_001287493.3:c.776C>A, NM_001287493.2:c.776C>A, NM_001287493.1:c.776C>A, NM_001287495.3:c.776C>A, NM_001287495.2:c.776C>A, NM_001287495.1:c.776C>A, XM_011515470.4:c.776C>A, XM_011515470.3:c.776C>A, XM_011515470.2:c.776C>A, XM_011515470.1:c.776C>A, XM_017012501.2:c.776C>A, XM_017012501.1:c.776C>A, XM_024446864.2:c.776C>A, XM_024446864.1:c.776C>A, XM_024446863.2:c.776C>A, XM_024446863.1:c.776C>A, XM_024446865.2:c.776C>A, XM_024446865.1:c.776C>A, XM_047420693.1:c.776C>A, NP_071399.2:p.Ser259Tyr, NP_001036227.1:p.Ser259Tyr, NP_001274421.1:p.Ser259Tyr, NP_001274423.1:p.Ser259Tyr, NP_001274425.1:p.Ser148Tyr, NP_001333494.1:p.Ser259Tyr, NP_001333487.1:p.Ser148Tyr, NP_001333492.1:p.Ser259Tyr, NP_001333489.1:p.Ser259Tyr, NP_001333488.1:p.Ser148Tyr, NP_001333493.1:p.Ser259Tyr, NP_001333490.1:p.Ser259Tyr, NP_001333491.1:p.Ser259Tyr, NP_001274422.1:p.Ser259Tyr, NP_001274424.1:p.Ser259Tyr, XP_011513772.1:p.Ser259Tyr, XP_016867990.1:p.Ser259Tyr, XP_024302632.1:p.Ser259Tyr, XP_024302631.1:p.Ser259Tyr, XP_024302633.1:p.Ser259Tyr, XP_047276649.1:p.Ser259Tyr

Select item 148796615717.

rs1487966157 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 7:50447522 (GRCh38)
7:50515220 (GRCh37)
Canonical SPDI:: NC_000007.14:50447521:T:A
Gene:: FIGNL1 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000007.14:g.50447522T>A, NC_000007.13:g.50515220T>A, NG_051949.1:g.7885A>T

Select item 148788714718.

rs1487887147 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 7:50438699 (GRCh38)
7:50506397 (GRCh37)
Canonical SPDI:: NC_000007.14:50438698:T:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0.000066/1 (ALFA)
G=0.000007/1 (GnomAD)
G=0.000223/1 (Estonian)
HGVS:: NC_000007.14:g.50438699T>G, NC_000007.13:g.50506397T>G, NG_051949.1:g.16708A>C, NM_001042762.4:c.*6564A>C, NM_022116.6:c.*6564A>C, NM_022116.5:c.*6564A>C, NM_001287492.3:c.*6564A>C, NM_001042762.3:c.*6564A>C, NM_001287494.3:c.*6564A>C, NM_001287496.3:c.*6564A>C, NM_001346565.2:c.*6564A>C, NM_001287492.2:c.*6564A>C, NM_001346558.2:c.*6564A>C, NM_001346563.2:c.*6564A>C, NM_001346560.2:c.*6564A>C, NM_001346559.2:c.*6564A>C, NM_001346564.2:c.*6564A>C, NM_001346561.2:c.*6564A>C, NM_001346562.2:c.*6564A>C, NM_001287493.2:c.*6564A>C, NM_001287494.2:c.*6564A>C, NM_001287495.2:c.*6564A>C, NM_001287496.2:c.*6564A>C, NM_001346565.1:c.*6564A>C, NM_001346558.1:c.*6564A>C, NM_001346563.1:c.*6564A>C, NM_001346560.1:c.*6564A>C, NM_001346559.1:c.*6564A>C, NM_001346564.1:c.*6564A>C, NM_001346561.1:c.*6564A>C, NM_001346562.1:c.*6564A>C

Select item 148755685519.

rs1487556855 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 7:50443318 (GRCh38)
7:50511016 (GRCh37)
Canonical SPDI:: NC_000007.14:50443317:A:G
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.50443318A>G, NC_000007.13:g.50511016A>G, NG_051949.1:g.12089T>C, NM_001042762.4:c.*1945T>C, NM_022116.6:c.*1945T>C, NM_022116.5:c.*1945T>C, NM_001287492.3:c.*1945T>C, NM_001042762.3:c.*1945T>C, NM_001287494.3:c.*1945T>C, NM_001287496.3:c.*1945T>C, NM_001346565.2:c.*1945T>C, NM_001287492.2:c.*1945T>C, NM_001346558.2:c.*1945T>C, NM_001346563.2:c.*1945T>C, NM_001346560.2:c.*1945T>C, NM_001346559.2:c.*1945T>C, NM_001346564.2:c.*1945T>C, NM_001346561.2:c.*1945T>C, NM_001346562.2:c.*1945T>C, NM_001287493.2:c.*1945T>C, NM_001287494.2:c.*1945T>C, NM_001287495.2:c.*1945T>C, NM_001287496.2:c.*1945T>C, NM_001346565.1:c.*1945T>C, NM_001346558.1:c.*1945T>C, NM_001346563.1:c.*1945T>C, NM_001346560.1:c.*1945T>C, NM_001346559.1:c.*1945T>C, NM_001346564.1:c.*1945T>C, NM_001346561.1:c.*1945T>C, NM_001346562.1:c.*1945T>C

Select item 148719290220.

rs1487192902 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 7:50442845 (GRCh38)
7:50510543 (GRCh37)
Canonical SPDI:: NC_000007.14:50442844:A:C
Validated:: by frequency
MAF:: C=0.000007/1 (GnomAD)
HGVS:: NC_000007.14:g.50442845A>C, NC_000007.13:g.50510543A>C, NG_051949.1:g.12562T>G, NM_001042762.4:c.*2418T>G, NM_022116.6:c.*2418T>G, NM_022116.5:c.*2418T>G, NM_001287492.3:c.*2418T>G, NM_001042762.3:c.*2418T>G, NM_001287494.3:c.*2418T>G, NM_001287496.3:c.*2418T>G, NM_001346565.2:c.*2418T>G, NM_001287492.2:c.*2418T>G, NM_001346558.2:c.*2418T>G, NM_001346563.2:c.*2418T>G, NM_001346560.2:c.*2418T>G, NM_001346559.2:c.*2418T>G, NM_001346564.2:c.*2418T>G, NM_001346561.2:c.*2418T>G, NM_001346562.2:c.*2418T>G, NM_001287493.2:c.*2418T>G, NM_001287494.2:c.*2418T>G, NM_001287495.2:c.*2418T>G, NM_001287496.2:c.*2418T>G, NM_001346565.1:c.*2418T>G, NM_001346558.1:c.*2418T>G, NM_001346563.1:c.*2418T>G, NM_001346560.1:c.*2418T>G, NM_001346559.1:c.*2418T>G, NM_001346564.1:c.*2418T>G, NM_001346561.1:c.*2418T>G, NM_001346562.1:c.*2418T>G

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