SNP Links for Gene (Select 284427) - SNP

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Select item 14915777371.

rs1491577737 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AAGGAGG [Show Flanks]
Chromosome:: 19:6429453 (GRCh38)
19:6429465 (GRCh37)
Canonical SPDI:: NC_000019.10:6429453:AAGGAGG:AAGGAGGAAGGAGG
Gene:: SLC25A41 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAGGAGGAAGGAGG=0./0 (ALFA)
HGVS:: NC_000019.10:g.6429454_6429460dup, NC_000019.9:g.6429465_6429471dup

Select item 14915715432.

rs1491571543 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,CATGT,T [Show Flanks]
Chromosome:: 19:6429175 (GRCh38)
19:6429187 (GRCh37)
Canonical SPDI:: NC_000019.10:6429175::C,NC_000019.10:6429175::CATGT,NC_000019.10:6429175::T
Gene:: SLC25A41 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: CATGT=0./0 (ALFA)
T=0.00002/1 (GnomAD)
T=0.00021/3 (TOMMO)
HGVS:: NC_000019.10:g.6429175_6429176insC, NC_000019.10:g.6429175_6429176insCATGT, NC_000019.10:g.6429175_6429176insT, NC_000019.9:g.6429186_6429187insC, NC_000019.9:g.6429186_6429187insCATGT, NC_000019.9:g.6429186_6429187insT

Select item 14915684143.

rs1491568414 [Homo sapiens]

Variant type:: INS
Alleles:: ->C,T,TATATATG,TATATG,TATATGTT,TATATGTTAT,TATATT,TATGTTAT,TGAT,TGTT,TGTTAT [Show Flanks]
Chromosome:: 19:6429144 (GRCh38)
19:6429156 (GRCh37)
Canonical SPDI:: NC_000019.10:6429144::C,NC_000019.10:6429144::T,NC_000019.10:6429144::TATATATG,NC_000019.10:6429144::TATATG,NC_000019.10:6429144::TATATGTT,NC_000019.10:6429144::TATATGTTAT,NC_000019.10:6429144::TATATT,NC_000019.10:6429144::TATGTTAT,NC_000019.10:6429144::TGAT,NC_000019.10:6429144::TGTT,NC_000019.10:6429144::TGTTAT
Gene:: SLC25A41 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATGTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.6429144_6429145insC, NC_000019.10:g.6429144_6429145insT, NC_000019.10:g.6429144_6429145insTATATATG, NC_000019.10:g.6429144_6429145insTATATG, NC_000019.10:g.6429144_6429145insTATATGTT, NC_000019.10:g.6429144_6429145insTATATGTTAT, NC_000019.10:g.6429144_6429145insTATATT, NC_000019.10:g.6429144_6429145insTATGTTAT, NC_000019.10:g.6429144_6429145insTGAT, NC_000019.10:g.6429144_6429145insTGTT, NC_000019.10:g.6429144_6429145insTGTTAT, NC_000019.9:g.6429155_6429156insC, NC_000019.9:g.6429155_6429156insT, NC_000019.9:g.6429155_6429156insTATATATG, NC_000019.9:g.6429155_6429156insTATATG, NC_000019.9:g.6429155_6429156insTATATGTT, NC_000019.9:g.6429155_6429156insTATATGTTAT, NC_000019.9:g.6429155_6429156insTATATT, NC_000019.9:g.6429155_6429156insTATGTTAT, NC_000019.9:g.6429155_6429156insTGAT, NC_000019.9:g.6429155_6429156insTGTT, NC_000019.9:g.6429155_6429156insTGTTAT

Select item 14915559434.

rs1491555943 [Homo sapiens]

Variant type:: INS
Alleles:: ->T,TACATATTATATATATGTT,TATATATTACATATATGTT,TATATGTTACATATATGTT,TATATGTTACGTATATGTT,TATGTTACATATATGTT,TC,TTAT [Show Flanks]
Chromosome:: 19:6429074 (GRCh38)
19:6429086 (GRCh37)
Canonical SPDI:: NC_000019.10:6429074::T,NC_000019.10:6429074::TACATATTATATATATGTT,NC_000019.10:6429074::TATATATTACATATATGTT,NC_000019.10:6429074::TATATGTTACATATATGTT,NC_000019.10:6429074::TATATGTTACGTATATGTT,NC_000019.10:6429074::TATGTTACATATATGTT,NC_000019.10:6429074::TC,NC_000019.10:6429074::TTAT
Gene:: SLC25A41 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTAT=0./0 (ALFA)
HGVS:: NC_000019.10:g.6429074_6429075insT, NC_000019.10:g.6429074_6429075insTACATATTATATATATGTT, NC_000019.10:g.6429074_6429075insTATATATTACATATATGTT, NC_000019.10:g.6429074_6429075insTATATGTTACATATATGTT, NC_000019.10:g.6429074_6429075insTATATGTTACGTATATGTT, NC_000019.10:g.6429074_6429075insTATGTTACATATATGTT, NC_000019.10:g.6429074_6429075insTC, NC_000019.10:g.6429074_6429075insTTAT, NC_000019.9:g.6429085_6429086insT, NC_000019.9:g.6429085_6429086insTACATATTATATATATGTT, NC_000019.9:g.6429085_6429086insTATATATTACATATATGTT, NC_000019.9:g.6429085_6429086insTATATGTTACATATATGTT, NC_000019.9:g.6429085_6429086insTATATGTTACGTATATGTT, NC_000019.9:g.6429085_6429086insTATGTTACATATATGTT, NC_000019.9:g.6429085_6429086insTC, NC_000019.9:g.6429085_6429086insTTAT

Select item 14915556935.

rs1491555693 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 19:6429454 (GRCh38)
19:6429465 (GRCh37)
Canonical SPDI:: NC_000019.10:6429452:AAA:A
Gene:: SLC25A41 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000019.10:g.6429454_6429455del, NC_000019.9:g.6429465_6429466del

Select item 14915174536.

rs1491517453 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 19:6438061 (GRCh38)
19:6438073 (GRCh37)
Canonical SPDI:: NC_000019.10:6438061::G
Gene:: SLC25A23 (Varview), SLC25A41 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000022/3 (GnomAD)
HGVS:: NC_000019.10:g.6438061_6438062insG, NC_000019.9:g.6438072_6438073insG

Select item 14914968887.

rs1491496888 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 19:6429164 (GRCh38)
19:6429175 (GRCh37)
Canonical SPDI:: NC_000019.10:6429163:AA:
Gene:: SLC25A41 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00016/1 (TOMMO)
-=0.01035/107 (GnomAD)
HGVS:: NC_000019.10:g.6429164_6429165del, NC_000019.9:g.6429175_6429176del

Select item 14914805228.

rs1491480522 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->GTTAT [Show Flanks]
Chromosome:: 19:6429040 (GRCh38)
19:6429052 (GRCh37)
Canonical SPDI:: NC_000019.10:6429040:TAT:TATGTTAT
Gene:: SLC25A41 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: TATGTTAT=0./0 (ALFA)
HGVS:: NC_000019.10:g.6429043_6429044insGTTAT, NC_000019.9:g.6429054_6429055insGTTAT

Select item 14914571799.

rs1491457179 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 19:6429144 (GRCh38)
19:6429155 (GRCh37)
Canonical SPDI:: NC_000019.10:6429143:AA:
Gene:: SLC25A41 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00401/166 (GnomAD)
HGVS:: NC_000019.10:g.6429144_6429145del, NC_000019.9:g.6429155_6429156del

Select item 149144942110.

rs1491449421 has merged into rs1555730145 [Homo sapiens]

Variant type:: DELINS
Alleles:: TA>-,TATA,TATATA [Show Flanks]
Chromosome:: 19:6429163 (GRCh38)
19:6429174 (GRCh37)
Canonical SPDI:: NC_000019.10:6429154:TATATATATA:TATATATA,NC_000019.10:6429154:TATATATATA:TATATATATATA,NC_000019.10:6429154:TATATATATA:TATATATATATATA
Gene:: SLC25A41 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATA=0./0 (ALFA)
-=0.0002/8 (GnomAD)
HGVS:: NC_000019.10:g.6429155TA[4], NC_000019.10:g.6429155TA[6], NC_000019.10:g.6429155TA[7], NC_000019.9:g.6429166TA[4], NC_000019.9:g.6429166TA[6], NC_000019.9:g.6429166TA[7]

Select item 149144689411.

rs1491446894 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AATA,ATA,ATAA,ATATA,ATCATATATATA,CATATATATA,GTTA [Show Flanks]
Chromosome:: 19:6429060 (GRCh38)
19:6429072 (GRCh37)
Canonical SPDI:: NC_000019.10:6429060::A,NC_000019.10:6429060::AATA,NC_000019.10:6429060::ATA,NC_000019.10:6429060::ATAA,NC_000019.10:6429060::ATATA,NC_000019.10:6429060::ATCATATATATA,NC_000019.10:6429060::CATATATATA,NC_000019.10:6429060::GTTA
Gene:: SLC25A41 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AATA=0./0 (ALFA)
ATCATATATATA=0.0001/1 (GnomAD)
HGVS:: NC_000019.10:g.6429060_6429061insA, NC_000019.10:g.6429060_6429061insAATA, NC_000019.10:g.6429060_6429061insATA, NC_000019.10:g.6429060_6429061insATAA, NC_000019.10:g.6429060_6429061insATATA, NC_000019.10:g.6429060_6429061insATCATATATATA, NC_000019.10:g.6429060_6429061insCATATATATA, NC_000019.10:g.6429060_6429061insGTTA, NC_000019.9:g.6429071_6429072insA, NC_000019.9:g.6429071_6429072insAATA, NC_000019.9:g.6429071_6429072insATA, NC_000019.9:g.6429071_6429072insATAA, NC_000019.9:g.6429071_6429072insATATA, NC_000019.9:g.6429071_6429072insATCATATATATA, NC_000019.9:g.6429071_6429072insCATATATATA, NC_000019.9:g.6429071_6429072insGTTA

Select item 149142004212.

rs1491420042 [Homo sapiens]

Variant type:: DEL
Alleles:: TT>- [Show Flanks]
Chromosome:: 19:6429060 (GRCh38)
19:6429071 (GRCh37)
Canonical SPDI:: NC_000019.10:6429059:TT:
Gene:: SLC25A41 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.05943/705 (ALFA)
-=0.00413/89 (GnomAD)
-=0.00647/65 (TOMMO)
-=0.00714/7 (Korea1K)
HGVS:: NC_000019.10:g.6429060_6429061del, NC_000019.9:g.6429071_6429072del

Select item 149139367113.

rs1491393671 [Homo sapiens]

Variant type:: DELINS
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:6438062 (GRCh38)
19:6438073 (GRCh37)
Canonical SPDI:: NC_000019.10:6438060:ACA:A
Gene:: SLC25A23 (Varview), SLC25A41 (Varview)
Functional Consequence:: 2KB_upstream_variant,genic_downstream_transcript_variant,downstream_transcript_variant,upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0.000084/1 (ALFA)
-=0.000259/36 (GnomAD)
HGVS:: NC_000019.10:g.6438062_6438063del, NC_000019.9:g.6438073_6438074del

Select item 149135627114.

rs1491356271 [Homo sapiens]

Variant type:: DELINS
Alleles:: AG>- [Show Flanks]
Chromosome:: 19:6429478 (GRCh38)
19:6429489 (GRCh37)
Canonical SPDI:: NC_000019.10:6429475:AGAG:AG
Gene:: SLC25A41 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AGAG=0./0 (ALFA)
-=0./0 (TWINSUK)
-=0.00007/1 (GnomAD)
-=0.00026/1 (ALSPAC)
HGVS:: NC_000019.10:g.6429476AG[1], NC_000019.9:g.6429487AG[1]

Select item 149130612715.

rs1491306127 has merged into rs1555730054 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT [Show Flanks]
Chromosome:: 19:6429048 (GRCh38)
19:6429059 (GRCh37)
Canonical SPDI:: NC_000019.10:6429039:ATATATATAT:ATATATAT,NC_000019.10:6429039:ATATATATAT:ATATATATATAT
Gene:: SLC25A41 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATATATATATAT=0./0 (ALFA)
HGVS:: NC_000019.10:g.6429040AT[4], NC_000019.10:g.6429040AT[6], NC_000019.9:g.6429051AT[4], NC_000019.9:g.6429051AT[6]

Select item 149129685516.

rs1491296855 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 19:6429131 (GRCh38)
19:6429143 (GRCh37)
Canonical SPDI:: NC_000019.10:6429131:A:ACA
Gene:: SLC25A41 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ACA=0./0 (ALFA)
AC=0.00113/17 (TOMMO)
AC=0.0123/65 (GnomAD)
HGVS:: NC_000019.10:g.6429132_6429133insCA, NC_000019.9:g.6429143_6429144insCA

Select item 149127651217.

rs1491276512 [Homo sapiens]

Variant type:: DEL
Alleles:: AA>- [Show Flanks]
Chromosome:: 19:6429396 (GRCh38)
19:6429407 (GRCh37)
Canonical SPDI:: NC_000019.10:6429395:AA:
Gene:: SLC25A41 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.02065/245 (ALFA)
HGVS:: NC_000019.10:g.6429396_6429397del, NC_000019.9:g.6429407_6429408del

Select item 149127257618.

rs1491272576 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 19:6429538 (GRCh38)
19:6429549 (GRCh37)
Canonical SPDI:: NC_000019.10:6429536:AAA:A
Gene:: SLC25A41 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0./0 (ALSPAC)
-=0.00081/3 (TWINSUK)
HGVS:: NC_000019.10:g.6429538_6429539del, NC_000019.9:g.6429549_6429550del

Select item 149122335419.

rs1491223354 has merged into rs376540931 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAAAAA [Show Flanks]
Chromosome:: 19:6438058 (GRCh38)
19:6438069 (GRCh37)
Canonical SPDI:: NC_000019.10:6438044:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000019.10:6438044:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000019.10:6438044:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000019.10:6438044:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000019.10:6438044:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000019.10:6438044:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000019.10:6438044:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000019.10:6438044:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000019.10:6438044:AAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: SLC25A23 (Varview), SLC25A41 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAAAA=0./0 (ALFA)
A=0.275/11 (GENOME_DK)
HGVS:: NC_000019.10:g.6438058_6438061del, NC_000019.10:g.6438059_6438061del, NC_000019.10:g.6438060_6438061del, NC_000019.10:g.6438061del, NC_000019.10:g.6438061dup, NC_000019.10:g.6438060_6438061dup, NC_000019.10:g.6438059_6438061dup, NC_000019.10:g.6438058_6438061dup, NC_000019.10:g.6438053_6438061dup, NC_000019.9:g.6438069_6438072del, NC_000019.9:g.6438070_6438072del, NC_000019.9:g.6438071_6438072del, NC_000019.9:g.6438072del, NC_000019.9:g.6438072dup, NC_000019.9:g.6438071_6438072dup, NC_000019.9:g.6438070_6438072dup, NC_000019.9:g.6438069_6438072dup, NC_000019.9:g.6438064_6438072dup

Select item 149122022820.

rs1491220228 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 19:6429061 (GRCh38)
19:6429073 (GRCh37)
Canonical SPDI:: NC_000019.10:6429061:A:ACA
Gene:: SLC25A41 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACA=0./0 (ALFA)
AC=0.00337/26 (GnomAD)
HGVS:: NC_000019.10:g.6429062_6429063insCA, NC_000019.9:g.6429073_6429074insCA

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