SNP Links for Gene (Select 2531) - SNP

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Select item 14915806471.

rs1491580647 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 18:63337092 (GRCh38)
18:61004325 (GRCh37)
Canonical SPDI:: NC_000018.10:63337091:CT:
Gene:: KDSR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
-=0.00005/1 (GnomAD)
HGVS:: NC_000018.10:g.63337092_63337093del, NC_000018.9:g.61004325_61004326del, NG_028249.1:g.35181_35182del

Select item 14915438462.

rs1491543846 has merged into rs1185123481 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 18:63363227 (GRCh38)
18:61030460 (GRCh37)
Canonical SPDI:: NC_000018.10:63363219:TTTTTTTTTTTTTT:TTTTTTT,NC_000018.10:63363219:TTTTTTTTTTTTTT:TTTTTTTTTT,NC_000018.10:63363219:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000018.10:63363219:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000018.10:63363219:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000018.10:63363219:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000018.10:63363219:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000018.10:63363219:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000018.10:63363219:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:63363219:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:63363219:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:63363219:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:63363219:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:63363219:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000018.10:63363219:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: KDSR (Varview), LOC124904317 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000018.10:g.63363227_63363233del, NC_000018.10:g.63363230_63363233del, NC_000018.10:g.63363231_63363233del, NC_000018.10:g.63363232_63363233del, NC_000018.10:g.63363233del, NC_000018.10:g.63363233dup, NC_000018.10:g.63363232_63363233dup, NC_000018.10:g.63363231_63363233dup, NC_000018.10:g.63363225_63363233dup, NC_000018.10:g.63363224_63363233dup, NC_000018.10:g.63363223_63363233dup, NC_000018.10:g.63363222_63363233dup, NC_000018.10:g.63363221_63363233dup, NC_000018.10:g.63363220_63363233dup, NC_000018.10:g.63363233_63363234insTTTTTTTTTTTTTTT, NC_000018.9:g.61030460_61030466del, NC_000018.9:g.61030463_61030466del, NC_000018.9:g.61030464_61030466del, NC_000018.9:g.61030465_61030466del, NC_000018.9:g.61030466del, NC_000018.9:g.61030466dup, NC_000018.9:g.61030465_61030466dup, NC_000018.9:g.61030464_61030466dup, NC_000018.9:g.61030458_61030466dup, NC_000018.9:g.61030457_61030466dup, NC_000018.9:g.61030456_61030466dup, NC_000018.9:g.61030455_61030466dup, NC_000018.9:g.61030454_61030466dup, NC_000018.9:g.61030453_61030466dup, NC_000018.9:g.61030466_61030467insTTTTTTTTTTTTTTT, NG_028249.1:g.9048_9054del, NG_028249.1:g.9051_9054del, NG_028249.1:g.9052_9054del, NG_028249.1:g.9053_9054del, NG_028249.1:g.9054del, NG_028249.1:g.9054dup, NG_028249.1:g.9053_9054dup, NG_028249.1:g.9052_9054dup, NG_028249.1:g.9046_9054dup, NG_028249.1:g.9045_9054dup, NG_028249.1:g.9044_9054dup, NG_028249.1:g.9043_9054dup, NG_028249.1:g.9042_9054dup, NG_028249.1:g.9041_9054dup, NG_028249.1:g.9054_9055insAAAAAAAAAAAAAAA

Select item 14915127803.

rs1491512780 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>- [Show Flanks]
Chromosome:: 18:63331266 (GRCh38)
18:60998499 (GRCh37)
Canonical SPDI:: NC_000018.10:63331264:AAA:A
Gene:: KDSR (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency,by alfa
MAF:: A=0.00008/1 (ALFA)
-=0.00004/4 (GnomAD)
HGVS:: NC_000018.10:g.63331266_63331267del, NC_000018.9:g.60998499_60998500del, NG_028249.1:g.41008_41009del, NM_002035.4:c.*516_*517del, NM_002035.3:c.*516_*517del, NM_002035.2:c.*516_*517del

Select item 14914165784.

rs1491416578 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CA [Show Flanks]
Chromosome:: 18:63337073 (GRCh38)
18:61004307 (GRCh37)
Canonical SPDI:: NC_000018.10:63337073:A:ACA
Gene:: KDSR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ACA=0./0 (ALFA)
AC=0.00005/1 (GnomAD)
HGVS:: NC_000018.10:g.63337074_63337075insCA, NC_000018.9:g.61004307_61004308insCA, NG_028249.1:g.35200_35201insGT

Select item 14913282735.

rs1491328273 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AA [Show Flanks]
Chromosome:: 18:63337112 (GRCh38)
18:61004346 (GRCh37)
Canonical SPDI:: NC_000018.10:63337112:AA:AAAA
Gene:: KDSR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: AAAA=0./0 (ALFA)
AA=0.00006/1 (GnomAD)
HGVS:: NC_000018.10:g.63337113_63337114dup, NC_000018.9:g.61004346_61004347dup, NG_028249.1:g.35160_35161dup

Select item 14913183146.

rs1491318314 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAA>-,A [Show Flanks]
Chromosome:: 18:63361017 (GRCh38)
18:61028250 (GRCh37)
Canonical SPDI:: NC_000018.10:63361015:AAAA:A,NC_000018.10:63361015:AAAA:AA
Gene:: KDSR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
-=0.00066/18 (TOMMO)
HGVS:: NC_000018.10:g.63361017_63361019del, NC_000018.10:g.63361018_63361019del, NC_000018.9:g.61028250_61028252del, NC_000018.9:g.61028251_61028252del, NG_028249.1:g.11256_11258del, NG_028249.1:g.11257_11258del

Select item 14912263347.

rs1491226334 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA,AATA,ATA,ATATATATA,CATA,CATATA,CATATATA,CATATATATA,CATATATATATA,CATATATATATATATATA,GATATA,GATATATA [Show Flanks]
Chromosome:: 18:63337092 (GRCh38)
18:61004326 (GRCh37)
Canonical SPDI:: NC_000018.10:63337092::A,NC_000018.10:63337092::AA,NC_000018.10:63337092::AATA,NC_000018.10:63337092::ATA,NC_000018.10:63337092::ATATATATA,NC_000018.10:63337092::CATA,NC_000018.10:63337092::CATATA,NC_000018.10:63337092::CATATATA,NC_000018.10:63337092::CATATATATA,NC_000018.10:63337092::CATATATATATA,NC_000018.10:63337092::CATATATATATATATATA,NC_000018.10:63337092::GATATA,NC_000018.10:63337092::GATATATA
Gene:: KDSR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000018.10:g.63337092_63337093insA, NC_000018.10:g.63337092_63337093insAA, NC_000018.10:g.63337092_63337093insAATA, NC_000018.10:g.63337092_63337093insATA, NC_000018.10:g.63337092_63337093insATATATATA, NC_000018.10:g.63337092_63337093insCATA, NC_000018.10:g.63337092_63337093insCATATA, NC_000018.10:g.63337092_63337093insCATATATA, NC_000018.10:g.63337092_63337093insCATATATATA, NC_000018.10:g.63337092_63337093insCATATATATATA, NC_000018.10:g.63337092_63337093insCATATATATATATATATA, NC_000018.10:g.63337092_63337093insGATATA, NC_000018.10:g.63337092_63337093insGATATATA, NC_000018.9:g.61004325_61004326insA, NC_000018.9:g.61004325_61004326insAA, NC_000018.9:g.61004325_61004326insAATA, NC_000018.9:g.61004325_61004326insATA, NC_000018.9:g.61004325_61004326insATATATATA, NC_000018.9:g.61004325_61004326insCATA, NC_000018.9:g.61004325_61004326insCATATA, NC_000018.9:g.61004325_61004326insCATATATA, NC_000018.9:g.61004325_61004326insCATATATATA, NC_000018.9:g.61004325_61004326insCATATATATATA, NC_000018.9:g.61004325_61004326insCATATATATATATATATA, NC_000018.9:g.61004325_61004326insGATATA, NC_000018.9:g.61004325_61004326insGATATATA, NG_028249.1:g.35181_35182insT, NG_028249.1:g.35181_35182insTT, NG_028249.1:g.35181_35182insTATT, NG_028249.1:g.35181_35182insTAT, NG_028249.1:g.35181_35182insTATATATAT, NG_028249.1:g.35181_35182insTATG, NG_028249.1:g.35181_35182insTATATG, NG_028249.1:g.35181_35182insTATATATG, NG_028249.1:g.35181_35182insTATATATATG, NG_028249.1:g.35181_35182insTATATATATATG, NG_028249.1:g.35181_35182insTATATATATATATATATG, NG_028249.1:g.35181_35182insTATATC, NG_028249.1:g.35181_35182insTATATATC

Select item 14912058908.

rs1491205890 has merged into rs113764704 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>-,ATAT,ATATAT [Show Flanks]
Chromosome:: 18:63337086 (GRCh38)
18:61004319 (GRCh37)
Canonical SPDI:: NC_000018.10:63337072:TATATATATATATAT:TATATATATATAT,NC_000018.10:63337072:TATATATATATATAT:TATATATATATATATAT,NC_000018.10:63337072:TATATATATATATAT:TATATATATATATATATAT
Gene:: KDSR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TATATATATATATATAT=0./0 (ALFA)
TA=0.0651/35 (NorthernSweden)
TA=0.4549/2278 (1000Genomes)
HGVS:: NC_000018.10:g.63337074AT[6], NC_000018.10:g.63337074AT[8], NC_000018.10:g.63337074AT[9], NC_000018.9:g.61004307AT[6], NC_000018.9:g.61004307AT[8], NC_000018.9:g.61004307AT[9], NG_028249.1:g.35188TA[6], NG_028249.1:g.35188TA[8], NG_028249.1:g.35188TA[9]

Select item 14911697639.

rs1491169763 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 18:63337112 (GRCh38)
18:61004345 (GRCh37)
Canonical SPDI:: NC_000018.10:63337111:GA:
Gene:: KDSR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.01425/169 (ALFA)
-=0.00134/20 (TOMMO)
-=0.05877/1490 (GnomAD)
HGVS:: NC_000018.10:g.63337112_63337113del, NC_000018.9:g.61004345_61004346del, NG_028249.1:g.35161_35162del

Select item 149116225910.

rs1491162259 [Homo sapiens]

Variant type:: INS
Alleles:: ->C [Show Flanks]
Chromosome:: 18:63363220 (GRCh38)
18:61030454 (GRCh37)
Canonical SPDI:: NC_000018.10:63363220::C
Gene:: KDSR (Varview), LOC124904317 (Varview)
Functional Consequence:: 500B_downstream_variant,intron_variant,downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000084/1 (ALFA)
C=0.000234/27 (GnomAD)
HGVS:: NC_000018.10:g.63363220_63363221insC, NC_000018.9:g.61030453_61030454insC, NG_028249.1:g.9053_9054insG

Select item 149113366111.

rs1491133661 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TA,TATATATATATAAAATA,TATATATATATAATATA [Show Flanks]
Chromosome:: 18:63361016 (GRCh38)
18:61028250 (GRCh37)
Canonical SPDI:: NC_000018.10:63361016:A:ATA,NC_000018.10:63361016:A:ATATATATATATAAAATA,NC_000018.10:63361016:A:ATATATATATATAATATA
Gene:: KDSR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATATATATATATAAAATA=0./0 (ALFA)
HGVS:: NC_000018.10:g.63361017_63361018insTA, NC_000018.10:g.63361017AT[6]A[4]TA[1], NC_000018.10:g.63361017AT[6]AATATA[1], NC_000018.9:g.61028250_61028251insTA, NC_000018.9:g.61028250AT[6]A[4]TA[1], NC_000018.9:g.61028250AT[6]AATATA[1], NG_028249.1:g.11257_11258insAT, NG_028249.1:g.11257_11258insATTTTATATATATATAT, NG_028249.1:g.11257TATAT[2]AT[4]

Select item 149112070512.

rs1491120705 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 18:63331265 (GRCh38)
18:60998499 (GRCh37)
Canonical SPDI:: NC_000018.10:63331265::G
Gene:: KDSR (Varview)
Functional Consequence:: 3_prime_UTR_variant
Validated:: by frequency
MAF:: G=0.0003/29 (GnomAD)
HGVS:: NC_000018.10:g.63331265_63331266insG, NC_000018.9:g.60998498_60998499insG, NG_028249.1:g.41008_41009insC, NM_002035.4:c.*516_*517insC, NM_002035.3:c.*516_*517insC, NM_002035.2:c.*516_*517insC

Select item 149105224913.

rs1491052249 has merged into rs35026156 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAA>-,A,AA,AAA,AAAAA,AAAAAA,AAAAAAAA [Show Flanks]
Chromosome:: 18:63343755 (GRCh38)
18:61010988 (GRCh37)
Canonical SPDI:: NC_000018.10:63343745:AAAAAAAAAAAAA:AAAAAAAAA,NC_000018.10:63343745:AAAAAAAAAAAAA:AAAAAAAAAA,NC_000018.10:63343745:AAAAAAAAAAAAA:AAAAAAAAAAA,NC_000018.10:63343745:AAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000018.10:63343745:AAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:63343745:AAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000018.10:63343745:AAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA
Gene:: KDSR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
A=0.2763/1065 (ALSPAC)
A=0.2799/1038 (TWINSUK)
A=0.2875/1440 (1000Genomes)
HGVS:: NC_000018.10:g.63343755_63343758del, NC_000018.10:g.63343756_63343758del, NC_000018.10:g.63343757_63343758del, NC_000018.10:g.63343758del, NC_000018.10:g.63343758dup, NC_000018.10:g.63343757_63343758dup, NC_000018.10:g.63343755_63343758dup, NC_000018.9:g.61010988_61010991del, NC_000018.9:g.61010989_61010991del, NC_000018.9:g.61010990_61010991del, NC_000018.9:g.61010991del, NC_000018.9:g.61010991dup, NC_000018.9:g.61010990_61010991dup, NC_000018.9:g.61010988_61010991dup, NG_028249.1:g.28525_28528del, NG_028249.1:g.28526_28528del, NG_028249.1:g.28527_28528del, NG_028249.1:g.28528del, NG_028249.1:g.28528dup, NG_028249.1:g.28527_28528dup, NG_028249.1:g.28525_28528dup

Select item 149103808114.

rs1491038081 has merged into rs10652370 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAA>-,A,AA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 18:63358823 (GRCh38)
18:61026056 (GRCh37)
Canonical SPDI:: NC_000018.10:63358814:AAAAAAAAAAAAAAAAAA:AAAAAAAA,NC_000018.10:63358814:AAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000018.10:63358814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000018.10:63358814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000018.10:63358814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000018.10:63358814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000018.10:63358814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000018.10:63358814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000018.10:63358814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000018.10:63358814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000018.10:63358814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000018.10:63358814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000018.10:63358814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:63358814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:63358814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:63358814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:63358814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:63358814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:63358814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:63358814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:63358814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:63358814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:63358814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000018.10:63358814:AAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAATAAAAAAAAAAAAAAAAAAAAAAA
Gene:: KDSR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAA=0./0 (ALFA)
HGVS:: NC_000018.10:g.63358823_63358832del, NC_000018.10:g.63358824_63358832del, NC_000018.10:g.63358825_63358832del, NC_000018.10:g.63358827_63358832del, NC_000018.10:g.63358828_63358832del, NC_000018.10:g.63358829_63358832del, NC_000018.10:g.63358830_63358832del, NC_000018.10:g.63358831_63358832del, NC_000018.10:g.63358832del, NC_000018.10:g.63358832dup, NC_000018.10:g.63358831_63358832dup, NC_000018.10:g.63358830_63358832dup, NC_000018.10:g.63358829_63358832dup, NC_000018.10:g.63358828_63358832dup, NC_000018.10:g.63358827_63358832dup, NC_000018.10:g.63358826_63358832dup, NC_000018.10:g.63358825_63358832dup, NC_000018.10:g.63358824_63358832dup, NC_000018.10:g.63358823_63358832dup, NC_000018.10:g.63358821_63358832dup, NC_000018.10:g.63358816_63358832dup, NC_000018.10:g.63358832_63358833insAAAAAAAAAAAAAAAAAAAAAA, NC_000018.10:g.63358832_63358833insAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.10:g.63358815_63358832A[26]TAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000018.9:g.61026056_61026065del, NC_000018.9:g.61026057_61026065del, NC_000018.9:g.61026058_61026065del, NC_000018.9:g.61026060_61026065del, NC_000018.9:g.61026061_61026065del, NC_000018.9:g.61026062_61026065del, NC_000018.9:g.61026063_61026065del, NC_000018.9:g.61026064_61026065del, NC_000018.9:g.61026065del, NC_000018.9:g.61026065dup, NC_000018.9:g.61026064_61026065dup, NC_000018.9:g.61026063_61026065dup, NC_000018.9:g.61026062_61026065dup, NC_000018.9:g.61026061_61026065dup, NC_000018.9:g.61026060_61026065dup, NC_000018.9:g.61026059_61026065dup, NC_000018.9:g.61026058_61026065dup, NC_000018.9:g.61026057_61026065dup, NC_000018.9:g.61026056_61026065dup, NC_000018.9:g.61026054_61026065dup, NC_000018.9:g.61026049_61026065dup, NC_000018.9:g.61026065_61026066insAAAAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.61026065_61026066insAAAAAAAAAAAAAAAAAAAAAAA, NC_000018.9:g.61026048_61026065A[26]TAAAAAAAAAAAAAAAAAAAAAAA[1], NG_028249.1:g.13450_13459del, NG_028249.1:g.13451_13459del, NG_028249.1:g.13452_13459del, NG_028249.1:g.13454_13459del, NG_028249.1:g.13455_13459del, NG_028249.1:g.13456_13459del, NG_028249.1:g.13457_13459del, NG_028249.1:g.13458_13459del, NG_028249.1:g.13459del, NG_028249.1:g.13459dup, NG_028249.1:g.13458_13459dup, NG_028249.1:g.13457_13459dup, NG_028249.1:g.13456_13459dup, NG_028249.1:g.13455_13459dup, NG_028249.1:g.13454_13459dup, NG_028249.1:g.13453_13459dup, NG_028249.1:g.13452_13459dup, NG_028249.1:g.13451_13459dup, NG_028249.1:g.13450_13459dup, NG_028249.1:g.13448_13459dup, NG_028249.1:g.13443_13459dup, NG_028249.1:g.13459_13460insTTTTTTTTTTTTTTTTTTTTTT, NG_028249.1:g.13459_13460insTTTTTTTTTTTTTTTTTTTTTTT, NG_028249.1:g.13442_13459T[23]ATTTTTTTTTTTTTTTTTTTTTTTTTT[1]

Select item 149095775515.

rs1490957755 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 18:63357516 (GRCh38)
18:61024749 (GRCh37)
Canonical SPDI:: NC_000018.10:63357515:G:A,NC_000018.10:63357515:G:T
Gene:: KDSR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
A=0.000054/7 (GnomAD)
HGVS:: NC_000018.10:g.63357516G>A, NC_000018.10:g.63357516G>T, NC_000018.9:g.61024749G>A, NC_000018.9:g.61024749G>T, NG_028249.1:g.14758C>T, NG_028249.1:g.14758C>A

Select item 149091386416.

rs1490913864 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 18:63345527 (GRCh38)
18:61012760 (GRCh37)
Canonical SPDI:: NC_000018.10:63345526:G:A
Gene:: KDSR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.63345527G>A, NC_000018.9:g.61012760G>A, NG_028249.1:g.26747C>T

Select item 149082885217.

rs1490828852 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 18:63339192 (GRCh38)
18:61006425 (GRCh37)
Canonical SPDI:: NC_000018.10:63339191:A:G
Gene:: KDSR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.63339192A>G, NC_000018.9:g.61006425A>G, NG_028249.1:g.33082T>C

Select item 149073627018.

rs1490736270 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 18:63340280 (GRCh38)
18:61007513 (GRCh37)
Canonical SPDI:: NC_000018.10:63340279:T:A
Gene:: KDSR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000018.10:g.63340280T>A, NC_000018.9:g.61007513T>A, NG_028249.1:g.31994A>T

Select item 149071870219.

rs1490718702 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 18:63356323 (GRCh38)
18:61023556 (GRCh37)
Canonical SPDI:: NC_000018.10:63356322:T:A
Gene:: KDSR (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000018.10:g.63356323T>A, NC_000018.9:g.61023556T>A, NG_028249.1:g.15951A>T

Select item 149066621220.

rs1490666212 [Homo sapiens]

Variant type:: SNV:
Alleles:: A>T
Chromosome:: no mapping
Canonical SPDI:

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