SNP Links for Gene (Select 6558) - SNP

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Select item 14915215831.

rs1491521583 [Homo sapiens]

Variant type:: DEL
Alleles:: GA>- [Show Flanks]
Chromosome:: 5:128083164 (GRCh38)
5:127418856 (GRCh37)
Canonical SPDI:: NC_000005.10:128083163:GA:
Gene:: SLC12A2 (Varview), SLC12A2-DT (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,non_coding_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.000051/7 (GnomAD)
-=0.000057/15 (TOPMED)
HGVS:: NC_000005.10:g.128083164_128083165del, NC_000005.9:g.127418856_127418857del, NG_042286.1:g.4374_4375del, NR_015360.2:n.11_12del, NR_152808.1:n.11_12del, NR_152806.1:n.11_12del, NR_152801.1:n.11_12del, NR_152811.1:n.11_12del, NR_152810.1:n.11_12del, NR_152815.1:n.11_12del, NR_152799.1:n.11_12del, NR_152805.1:n.11_12del, NR_152809.1:n.11_12del, NR_152807.1:n.11_12del, NR_152812.1:n.11_12del, NR_152800.1:n.11_12del, NR_152814.1:n.11_12del, NR_152798.1:n.11_12del, NR_152803.1:n.11_12del, NR_152804.1:n.11_12del, NR_152802.1:n.11_12del, NR_152813.1:n.11_12del

Select item 14914676042.

rs1491467604 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 5:128088007 (GRCh38)
5:127423699 (GRCh37)
Canonical SPDI:: NC_000005.10:128088004:CTCT:CT
Gene:: SLC12A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CTCT=0./0 (ALFA)
HGVS:: NC_000005.10:g.128088005CT[1], NC_000005.9:g.127423697CT[1], NG_042286.1:g.9215CT[1]

Select item 14914622643.

rs1491462264 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AGTGTG [Show Flanks]
Chromosome:: 5:128088008 (GRCh38)
5:127423701 (GRCh37)
Canonical SPDI:: NC_000005.10:128088008:GTGTG:GTGTGAGTGTG
Gene:: SLC12A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGAGTGTG=0./0 (ALFA)
GTGTGA=0.000008/2 (TOPMED)
GTGTGA=0.000105/1 (GnomAD)
HGVS:: NC_000005.10:g.128088009_128088013GT[2]GAGTGTG[1], NC_000005.9:g.127423701_127423705GT[2]GAGTGTG[1], NG_042286.1:g.9219_9223GT[2]GAGTGTG[1]

Select item 14914604914.

rs1491460491 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T [Show Flanks]
Chromosome:: 5:128170282 (GRCh38)
5:127505974 (GRCh37)
Canonical SPDI:: NC_000005.10:128170277:TTTTTT:TTTT,NC_000005.10:128170277:TTTTTT:TTTTT
Gene:: SLC12A2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTT=0./0 (ALFA)
HGVS:: NC_000005.10:g.128170282_128170283del, NC_000005.10:g.128170283del, NC_000005.9:g.127505974_127505975del, NC_000005.9:g.127505975del, NG_042286.1:g.91492_91493del, NG_042286.1:g.91493del

Select item 14914562425.

rs1491456242 has merged into rs796219146 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAAA [Show Flanks]
Chromosome:: 5:128083167 (GRCh38)
5:127418859 (GRCh37)
Canonical SPDI:: NC_000005.10:128083164:AAAAAAAAAAA:AA,NC_000005.10:128083164:AAAAAAAAAAA:AAA,NC_000005.10:128083164:AAAAAAAAAAA:AAAA,NC_000005.10:128083164:AAAAAAAAAAA:AAAAA,NC_000005.10:128083164:AAAAAAAAAAA:AAAAAA,NC_000005.10:128083164:AAAAAAAAAAA:AAAAAAA,NC_000005.10:128083164:AAAAAAAAAAA:AAAAAAAA,NC_000005.10:128083164:AAAAAAAAAAA:AAAAAAAAA,NC_000005.10:128083164:AAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:128083164:AAAAAAAAAAA:AAAAAAAAAAAA
Gene:: SLC12A2 (Varview), SLC12A2-DT (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000005.10:g.128083167_128083175del, NC_000005.10:g.128083168_128083175del, NC_000005.10:g.128083169_128083175del, NC_000005.10:g.128083170_128083175del, NC_000005.10:g.128083171_128083175del, NC_000005.10:g.128083172_128083175del, NC_000005.10:g.128083173_128083175del, NC_000005.10:g.128083174_128083175del, NC_000005.10:g.128083175del, NC_000005.10:g.128083175dup, NC_000005.9:g.127418859_127418867del, NC_000005.9:g.127418860_127418867del, NC_000005.9:g.127418861_127418867del, NC_000005.9:g.127418862_127418867del, NC_000005.9:g.127418863_127418867del, NC_000005.9:g.127418864_127418867del, NC_000005.9:g.127418865_127418867del, NC_000005.9:g.127418866_127418867del, NC_000005.9:g.127418867del, NC_000005.9:g.127418867dup, NG_042286.1:g.4377_4385del, NG_042286.1:g.4378_4385del, NG_042286.1:g.4379_4385del, NG_042286.1:g.4380_4385del, NG_042286.1:g.4381_4385del, NG_042286.1:g.4382_4385del, NG_042286.1:g.4383_4385del, NG_042286.1:g.4384_4385del, NG_042286.1:g.4385del, NG_042286.1:g.4385dup, NR_015360.2:n.3_11del, NR_015360.2:n.4_11del, NR_015360.2:n.5_11del, NR_015360.2:n.6_11del, NR_015360.2:n.7_11del, NR_015360.2:n.8_11del, NR_015360.2:n.9_11del, NR_015360.2:n.10_11del, NR_015360.2:n.11del, NR_015360.2:n.11dup, NR_152808.1:n.3_11del, NR_152808.1:n.4_11del, NR_152808.1:n.5_11del, NR_152808.1:n.6_11del, NR_152808.1:n.7_11del, NR_152808.1:n.8_11del, NR_152808.1:n.9_11del, NR_152808.1:n.10_11del, NR_152808.1:n.11del, NR_152808.1:n.11dup, NR_152806.1:n.3_11del, NR_152806.1:n.4_11del, NR_152806.1:n.5_11del, NR_152806.1:n.6_11del, NR_152806.1:n.7_11del, NR_152806.1:n.8_11del, NR_152806.1:n.9_11del, NR_152806.1:n.10_11del, NR_152806.1:n.11del, NR_152806.1:n.11dup, NR_152801.1:n.3_11del, NR_152801.1:n.4_11del, NR_152801.1:n.5_11del, NR_152801.1:n.6_11del, NR_152801.1:n.7_11del, NR_152801.1:n.8_11del, NR_152801.1:n.9_11del, NR_152801.1:n.10_11del, NR_152801.1:n.11del, NR_152801.1:n.11dup, NR_152811.1:n.3_11del, NR_152811.1:n.4_11del, NR_152811.1:n.5_11del, NR_152811.1:n.6_11del, NR_152811.1:n.7_11del, NR_152811.1:n.8_11del, NR_152811.1:n.9_11del, NR_152811.1:n.10_11del, NR_152811.1:n.11del, NR_152811.1:n.11dup, NR_152810.1:n.3_11del, NR_152810.1:n.4_11del, NR_152810.1:n.5_11del, NR_152810.1:n.6_11del, NR_152810.1:n.7_11del, NR_152810.1:n.8_11del, NR_152810.1:n.9_11del, NR_152810.1:n.10_11del, NR_152810.1:n.11del, NR_152810.1:n.11dup, NR_152815.1:n.3_11del, NR_152815.1:n.4_11del, NR_152815.1:n.5_11del, NR_152815.1:n.6_11del, NR_152815.1:n.7_11del, NR_152815.1:n.8_11del, NR_152815.1:n.9_11del, NR_152815.1:n.10_11del, NR_152815.1:n.11del, NR_152815.1:n.11dup, NR_152799.1:n.3_11del, NR_152799.1:n.4_11del, NR_152799.1:n.5_11del, NR_152799.1:n.6_11del, NR_152799.1:n.7_11del, NR_152799.1:n.8_11del, NR_152799.1:n.9_11del, NR_152799.1:n.10_11del, NR_152799.1:n.11del, NR_152799.1:n.11dup, NR_152805.1:n.3_11del, NR_152805.1:n.4_11del, NR_152805.1:n.5_11del, NR_152805.1:n.6_11del, NR_152805.1:n.7_11del, NR_152805.1:n.8_11del, NR_152805.1:n.9_11del, NR_152805.1:n.10_11del, NR_152805.1:n.11del, NR_152805.1:n.11dup, NR_152809.1:n.3_11del, NR_152809.1:n.4_11del, NR_152809.1:n.5_11del, NR_152809.1:n.6_11del, NR_152809.1:n.7_11del, NR_152809.1:n.8_11del, NR_152809.1:n.9_11del, NR_152809.1:n.10_11del, NR_152809.1:n.11del, NR_152809.1:n.11dup, NR_152807.1:n.3_11del, NR_152807.1:n.4_11del, NR_152807.1:n.5_11del, NR_152807.1:n.6_11del, NR_152807.1:n.7_11del, NR_152807.1:n.8_11del, NR_152807.1:n.9_11del, NR_152807.1:n.10_11del, NR_152807.1:n.11del, NR_152807.1:n.11dup, NR_152812.1:n.3_11del, NR_152812.1:n.4_11del, NR_152812.1:n.5_11del, NR_152812.1:n.6_11del, NR_152812.1:n.7_11del, NR_152812.1:n.8_11del, NR_152812.1:n.9_11del, NR_152812.1:n.10_11del, NR_152812.1:n.11del, NR_152812.1:n.11dup, NR_152800.1:n.3_11del, NR_152800.1:n.4_11del, NR_152800.1:n.5_11del, NR_152800.1:n.6_11del, NR_152800.1:n.7_11del, NR_152800.1:n.8_11del, NR_152800.1:n.9_11del, NR_152800.1:n.10_11del, NR_152800.1:n.11del, NR_152800.1:n.11dup, NR_152814.1:n.3_11del, NR_152814.1:n.4_11del, NR_152814.1:n.5_11del, NR_152814.1:n.6_11del, NR_152814.1:n.7_11del, NR_152814.1:n.8_11del, NR_152814.1:n.9_11del, NR_152814.1:n.10_11del, NR_152814.1:n.11del, NR_152814.1:n.11dup, NR_152798.1:n.3_11del, NR_152798.1:n.4_11del, NR_152798.1:n.5_11del, NR_152798.1:n.6_11del, NR_152798.1:n.7_11del, NR_152798.1:n.8_11del, NR_152798.1:n.9_11del, NR_152798.1:n.10_11del, NR_152798.1:n.11del, NR_152798.1:n.11dup, NR_152803.1:n.3_11del, NR_152803.1:n.4_11del, NR_152803.1:n.5_11del, NR_152803.1:n.6_11del, NR_152803.1:n.7_11del, NR_152803.1:n.8_11del, NR_152803.1:n.9_11del, NR_152803.1:n.10_11del, NR_152803.1:n.11del, NR_152803.1:n.11dup, NR_152804.1:n.3_11del, NR_152804.1:n.4_11del, NR_152804.1:n.5_11del, NR_152804.1:n.6_11del, NR_152804.1:n.7_11del, NR_152804.1:n.8_11del, NR_152804.1:n.9_11del, NR_152804.1:n.10_11del, NR_152804.1:n.11del, NR_152804.1:n.11dup, NR_152802.1:n.3_11del, NR_152802.1:n.4_11del, NR_152802.1:n.5_11del, NR_152802.1:n.6_11del, NR_152802.1:n.7_11del, NR_152802.1:n.8_11del, NR_152802.1:n.9_11del, NR_152802.1:n.10_11del, NR_152802.1:n.11del, NR_152802.1:n.11dup, NR_152813.1:n.3_11del, NR_152813.1:n.4_11del, NR_152813.1:n.5_11del, NR_152813.1:n.6_11del, NR_152813.1:n.7_11del, NR_152813.1:n.8_11del, NR_152813.1:n.9_11del, NR_152813.1:n.10_11del, NR_152813.1:n.11del, NR_152813.1:n.11dup

Select item 14914554756.

rs1491455475 [Homo sapiens]

Variant type:: INS
Alleles:: ->CCTGTG [Show Flanks]
Chromosome:: 5:128088005 (GRCh38)
5:127423698 (GRCh37)
Canonical SPDI:: NC_000005.10:128088005::CCTGTG
Gene:: SLC12A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CCTGTG=0./0 (ALFA)
HGVS:: NC_000005.10:g.128088005_128088006insCCTGTG, NC_000005.9:g.127423697_127423698insCCTGTG, NG_042286.1:g.9215_9216insCCTGTG

Select item 14914333507.

rs1491433350 has merged into rs147416302 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGT>-,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 5:128166470 (GRCh38)
5:127502162 (GRCh37)
Canonical SPDI:: NC_000005.10:128166460:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGT,NC_000005.10:128166460:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGT,NC_000005.10:128166460:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGT,NC_000005.10:128166460:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000005.10:128166460:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000005.10:128166460:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:128166460:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:128166460:TGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: SLC12A2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGT=0./0 (ALFA)
-=0.000011/3 (TOPMED)
HGVS:: NC_000005.10:g.128166462GT[4], NC_000005.10:g.128166462GT[6], NC_000005.10:g.128166462GT[7], NC_000005.10:g.128166462GT[8], NC_000005.10:g.128166462GT[9], NC_000005.10:g.128166462GT[11], NC_000005.10:g.128166462GT[12], NC_000005.10:g.128166462GT[13], NC_000005.9:g.127502154GT[4], NC_000005.9:g.127502154GT[6], NC_000005.9:g.127502154GT[7], NC_000005.9:g.127502154GT[8], NC_000005.9:g.127502154GT[9], NC_000005.9:g.127502154GT[11], NC_000005.9:g.127502154GT[12], NC_000005.9:g.127502154GT[13], NG_042286.1:g.87672GT[4], NG_042286.1:g.87672GT[6], NG_042286.1:g.87672GT[7], NG_042286.1:g.87672GT[8], NG_042286.1:g.87672GT[9], NG_042286.1:g.87672GT[11], NG_042286.1:g.87672GT[12], NG_042286.1:g.87672GT[13]

Select item 14914010378.

rs1491401037 [Homo sapiens]

Variant type:: INS
Alleles:: ->A [Show Flanks]
Chromosome:: 5:128170278 (GRCh38)
5:127505971 (GRCh37)
Canonical SPDI:: NC_000005.10:128170278::A
Gene:: SLC12A2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000005.10:g.128170278_128170279insA, NC_000005.9:g.127505970_127505971insA, NG_042286.1:g.91488_91489insA

Select item 14913969359.

rs1491396935 [Homo sapiens]

Variant type:: DELINS
Alleles:: CT>- [Show Flanks]
Chromosome:: 5:128088041 (GRCh38)
5:127423733 (GRCh37)
Canonical SPDI:: NC_000005.10:128088039:TCT:T
Gene:: SLC12A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000422/5 (ALFA)
-=0.000312/2 (1000Genomes)
-=0.000452/63 (GnomAD)
HGVS:: NC_000005.10:g.128088041_128088042del, NC_000005.9:g.127423733_127423734del, NG_042286.1:g.9251_9252del

Select item 149132274910.

rs1491322749 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,AA,AAAA,ATA,ATAA,ATATA,ATATAA,ATATAG,ATATATA,ATATATAA,ATATATAAAA,ATATATATA,ATATATATAA,ATATATATATA,ATATATATATAA,ATATATATATATA,ATATATATATATAA,ATATATATATATATA,ATATATATATATATAA,ATATATATATATATATAA,ATATATATATATATATATA,ATATATATATATATATATAA,ATATATATATATATATATATA,ATATATATATATATATATATAA,ATATATATATATATATATATATAA,ATATATATATATATATATATATATA,ATATATATATATATATATATATATAA,ATATATATATATATATATATATATATA,ATATATATATATATATATATATATATATAA [Show Flanks]
Chromosome:: 5:128126967 (GRCh38)
5:127462660 (GRCh37)
Canonical SPDI:: NC_000005.10:128126967::A,NC_000005.10:128126967::AA,NC_000005.10:128126967::AAAA,NC_000005.10:128126967::ATA,NC_000005.10:128126967::ATAA,NC_000005.10:128126967::ATATA,NC_000005.10:128126967::ATATAA,NC_000005.10:128126967::ATATAG,NC_000005.10:128126967::ATATATA,NC_000005.10:128126967::ATATATAA,NC_000005.10:128126967::ATATATAAAA,NC_000005.10:128126967::ATATATATA,NC_000005.10:128126967::ATATATATAA,NC_000005.10:128126967::ATATATATATA,NC_000005.10:128126967::ATATATATATAA,NC_000005.10:128126967::ATATATATATATA,NC_000005.10:128126967::ATATATATATATAA,NC_000005.10:128126967::ATATATATATATATA,NC_000005.10:128126967::ATATATATATATATAA,NC_000005.10:128126967::ATATATATATATATATAA,NC_000005.10:128126967::ATATATATATATATATATA,NC_000005.10:128126967::ATATATATATATATATATAA,NC_000005.10:128126967::ATATATATATATATATATATA,NC_000005.10:128126967::ATATATATATATATATATATAA,NC_000005.10:128126967::ATATATATATATATATATATATAA,NC_000005.10:128126967::ATATATATATATATATATATATATA,NC_000005.10:128126967::ATATATATATATATATATATATATAA,NC_000005.10:128126967::ATATATATATATATATATATATATATA,NC_000005.10:128126967::ATATATATATATATATATATATATATATAA
Gene:: SLC12A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AA=0./0 (ALFA)
HGVS:: NC_000005.10:g.128126967_128126968insA, NC_000005.10:g.128126967_128126968insAA, NC_000005.10:g.128126967_128126968insAAAA, NC_000005.10:g.128126967_128126968insATA, NC_000005.10:g.128126967_128126968insATAA, NC_000005.10:g.128126967_128126968insATATA, NC_000005.10:g.128126967_128126968insATATAA, NC_000005.10:g.128126967_128126968insATATAG, NC_000005.10:g.128126967_128126968insATATATA, NC_000005.10:g.128126967_128126968insATATATAA, NC_000005.10:g.128126967_128126968insATATATAAAA, NC_000005.10:g.128126967_128126968insATATATATA, NC_000005.10:g.128126967_128126968insATATATATAA, NC_000005.10:g.128126967_128126968insATATATATATA, NC_000005.10:g.128126967_128126968insATATATATATAA, NC_000005.10:g.128126967_128126968insATATATATATATA, NC_000005.10:g.128126967_128126968insATATATATATATAA, NC_000005.10:g.128126967_128126968insATATATATATATATA, NC_000005.10:g.128126967_128126968insATATATATATATATAA, NC_000005.10:g.128126967_128126968insATATATATATATATATAA, NC_000005.10:g.128126967_128126968insATATATATATATATATATA, NC_000005.10:g.128126967_128126968insATATATATATATATATATAA, NC_000005.10:g.128126967_128126968insATATATATATATATATATATA, NC_000005.10:g.128126967_128126968insATATATATATATATATATATAA, NC_000005.10:g.128126967_128126968insATATATATATATATATATATATAA, NC_000005.10:g.128126967_128126968insATATATATATATATATATATATATA, NC_000005.10:g.128126967_128126968insATATATATATATATATATATATATAA, NC_000005.10:g.128126967_128126968insATATATATATATATATATATATATATA, NC_000005.10:g.128126967_128126968insATATATATATATATATATATATATATATAA, NC_000005.9:g.127462659_127462660insA, NC_000005.9:g.127462659_127462660insAA, NC_000005.9:g.127462659_127462660insAAAA, NC_000005.9:g.127462659_127462660insATA, NC_000005.9:g.127462659_127462660insATAA, NC_000005.9:g.127462659_127462660insATATA, NC_000005.9:g.127462659_127462660insATATAA, NC_000005.9:g.127462659_127462660insATATAG, NC_000005.9:g.127462659_127462660insATATATA, NC_000005.9:g.127462659_127462660insATATATAA, NC_000005.9:g.127462659_127462660insATATATAAAA, NC_000005.9:g.127462659_127462660insATATATATA, NC_000005.9:g.127462659_127462660insATATATATAA, NC_000005.9:g.127462659_127462660insATATATATATA, NC_000005.9:g.127462659_127462660insATATATATATAA, NC_000005.9:g.127462659_127462660insATATATATATATA, NC_000005.9:g.127462659_127462660insATATATATATATAA, NC_000005.9:g.127462659_127462660insATATATATATATATA, NC_000005.9:g.127462659_127462660insATATATATATATATAA, NC_000005.9:g.127462659_127462660insATATATATATATATATAA, NC_000005.9:g.127462659_127462660insATATATATATATATATATA, NC_000005.9:g.127462659_127462660insATATATATATATATATATAA, NC_000005.9:g.127462659_127462660insATATATATATATATATATATA, NC_000005.9:g.127462659_127462660insATATATATATATATATATATAA, NC_000005.9:g.127462659_127462660insATATATATATATATATATATATAA, NC_000005.9:g.127462659_127462660insATATATATATATATATATATATATA, NC_000005.9:g.127462659_127462660insATATATATATATATATATATATATAA, NC_000005.9:g.127462659_127462660insATATATATATATATATATATATATATA, NC_000005.9:g.127462659_127462660insATATATATATATATATATATATATATATAA, NG_042286.1:g.48177_48178insA, NG_042286.1:g.48177_48178insAA, NG_042286.1:g.48177_48178insAAAA, NG_042286.1:g.48177_48178insATA, NG_042286.1:g.48177_48178insATAA, NG_042286.1:g.48177_48178insATATA, NG_042286.1:g.48177_48178insATATAA, NG_042286.1:g.48177_48178insATATAG, NG_042286.1:g.48177_48178insATATATA, NG_042286.1:g.48177_48178insATATATAA, NG_042286.1:g.48177_48178insATATATAAAA, NG_042286.1:g.48177_48178insATATATATA, NG_042286.1:g.48177_48178insATATATATAA, NG_042286.1:g.48177_48178insATATATATATA, NG_042286.1:g.48177_48178insATATATATATAA, NG_042286.1:g.48177_48178insATATATATATATA, NG_042286.1:g.48177_48178insATATATATATATAA, NG_042286.1:g.48177_48178insATATATATATATATA, NG_042286.1:g.48177_48178insATATATATATATATAA, NG_042286.1:g.48177_48178insATATATATATATATATAA, NG_042286.1:g.48177_48178insATATATATATATATATATA, NG_042286.1:g.48177_48178insATATATATATATATATATAA, NG_042286.1:g.48177_48178insATATATATATATATATATATA, NG_042286.1:g.48177_48178insATATATATATATATATATATAA, NG_042286.1:g.48177_48178insATATATATATATATATATATATAA, NG_042286.1:g.48177_48178insATATATATATATATATATATATATA, NG_042286.1:g.48177_48178insATATATATATATATATATATATATAA, NG_042286.1:g.48177_48178insATATATATATATATATATATATATATA, NG_042286.1:g.48177_48178insATATATATATATATATATATATATATATAA

Select item 149131756311.

rs1491317563 has merged into rs58191870 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 5:128088025 (GRCh38)
5:127423717 (GRCh37)
Canonical SPDI:: NC_000005.10:128088007:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000005.10:128088007:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000005.10:128088007:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000005.10:128088007:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:128088007:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:128088007:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:128088007:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:128088007:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:128088007:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:128088007:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:128088007:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:128088007:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:128088007:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:128088007:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:128088007:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:128088007:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:128088007:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:128088007:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:128088007:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:128088007:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:128088007:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:128088007:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:128088007:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:128088007:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: SLC12A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000005.10:g.128088009GT[8], NC_000005.10:g.128088009GT[9], NC_000005.10:g.128088009GT[10], NC_000005.10:g.128088009GT[11], NC_000005.10:g.128088009GT[12], NC_000005.10:g.128088009GT[13], NC_000005.10:g.128088009GT[14], NC_000005.10:g.128088009GT[15], NC_000005.10:g.128088009GT[17], NC_000005.10:g.128088009GT[18], NC_000005.10:g.128088009GT[19], NC_000005.10:g.128088009GT[20], NC_000005.10:g.128088009GT[21], NC_000005.10:g.128088009GT[22], NC_000005.10:g.128088009GT[23], NC_000005.10:g.128088009GT[24], NC_000005.10:g.128088009GT[25], NC_000005.10:g.128088009GT[26], NC_000005.10:g.128088009GT[27], NC_000005.10:g.128088009GT[28], NC_000005.10:g.128088009GT[29], NC_000005.10:g.128088009GT[30], NC_000005.10:g.128088009GT[31], NC_000005.10:g.128088009GT[32], NC_000005.9:g.127423701GT[8], NC_000005.9:g.127423701GT[9], NC_000005.9:g.127423701GT[10], NC_000005.9:g.127423701GT[11], NC_000005.9:g.127423701GT[12], NC_000005.9:g.127423701GT[13], NC_000005.9:g.127423701GT[14], NC_000005.9:g.127423701GT[15], NC_000005.9:g.127423701GT[17], NC_000005.9:g.127423701GT[18], NC_000005.9:g.127423701GT[19], NC_000005.9:g.127423701GT[20], NC_000005.9:g.127423701GT[21], NC_000005.9:g.127423701GT[22], NC_000005.9:g.127423701GT[23], NC_000005.9:g.127423701GT[24], NC_000005.9:g.127423701GT[25], NC_000005.9:g.127423701GT[26], NC_000005.9:g.127423701GT[27], NC_000005.9:g.127423701GT[28], NC_000005.9:g.127423701GT[29], NC_000005.9:g.127423701GT[30], NC_000005.9:g.127423701GT[31], NC_000005.9:g.127423701GT[32], NG_042286.1:g.9219GT[8], NG_042286.1:g.9219GT[9], NG_042286.1:g.9219GT[10], NG_042286.1:g.9219GT[11], NG_042286.1:g.9219GT[12], NG_042286.1:g.9219GT[13], NG_042286.1:g.9219GT[14], NG_042286.1:g.9219GT[15], NG_042286.1:g.9219GT[17], NG_042286.1:g.9219GT[18], NG_042286.1:g.9219GT[19], NG_042286.1:g.9219GT[20], NG_042286.1:g.9219GT[21], NG_042286.1:g.9219GT[22], NG_042286.1:g.9219GT[23], NG_042286.1:g.9219GT[24], NG_042286.1:g.9219GT[25], NG_042286.1:g.9219GT[26], NG_042286.1:g.9219GT[27], NG_042286.1:g.9219GT[28], NG_042286.1:g.9219GT[29], NG_042286.1:g.9219GT[30], NG_042286.1:g.9219GT[31], NG_042286.1:g.9219GT[32]

Select item 149125289512.

rs1491252895 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:128165933 (GRCh38)
5:127501625 (GRCh37)
Canonical SPDI:: NC_000005.10:128165932:CA:
Gene:: SLC12A2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0.00153/25 (ALFA)
-=0.00008/8 (GnomAD)
-=0.00014/4 (TOMMO)
HGVS:: NC_000005.10:g.128165933_128165934del, NC_000005.9:g.127501625_127501626del, NG_042286.1:g.87143_87144del

Select item 149117859113.

rs1491178591 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:128082362 (GRCh38)
5:127418054 (GRCh37)
Canonical SPDI:: NC_000005.10:128082361:CA:
Gene:: SLC12A2 (Varview), SLC12A2-DT (Varview)
Functional Consequence:: intron_variant,upstream_transcript_variant,2KB_upstream_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000005.10:g.128082362_128082363del, NC_000005.9:g.127418054_127418055del, NG_042286.1:g.3572_3573del

Select item 149115779514.

rs1491157795 [Homo sapiens]

Variant type:: INS
Alleles:: ->G [Show Flanks]
Chromosome:: 5:128165933 (GRCh38)
5:127501626 (GRCh37)
Canonical SPDI:: NC_000005.10:128165933::G
Gene:: SLC12A2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000005.10:g.128165933_128165934insG, NC_000005.9:g.127501625_127501626insG, NG_042286.1:g.87143_87144insG

Select item 149114189515.

rs1491141895 has merged into rs1554105175 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:128126978 (GRCh38)
5:127462670 (GRCh37)
Canonical SPDI:: NC_000005.10:128126966:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:128126966:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:128126966:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:128126966:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:128126966:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:128126966:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:128126966:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:128126966:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:128126966:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:128126966:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:128126966:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:128126966:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:128126966:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:128126966:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:128126966:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:128126966:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:128126966:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:128126966:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:128126966:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:128126966:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:128126966:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:128126966:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:128126966:TTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: SLC12A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
TTT=0.04599/1077 (TOMMO)
HGVS:: NC_000005.10:g.128126978_128126987del, NC_000005.10:g.128126979_128126987del, NC_000005.10:g.128126980_128126987del, NC_000005.10:g.128126981_128126987del, NC_000005.10:g.128126982_128126987del, NC_000005.10:g.128126983_128126987del, NC_000005.10:g.128126984_128126987del, NC_000005.10:g.128126985_128126987del, NC_000005.10:g.128126986_128126987del, NC_000005.10:g.128126987del, NC_000005.10:g.128126987dup, NC_000005.10:g.128126986_128126987dup, NC_000005.10:g.128126985_128126987dup, NC_000005.10:g.128126984_128126987dup, NC_000005.10:g.128126983_128126987dup, NC_000005.10:g.128126982_128126987dup, NC_000005.10:g.128126981_128126987dup, NC_000005.10:g.128126980_128126987dup, NC_000005.10:g.128126979_128126987dup, NC_000005.10:g.128126978_128126987dup, NC_000005.10:g.128126977_128126987dup, NC_000005.10:g.128126975_128126987dup, NC_000005.10:g.128126987_128126988insTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.127462670_127462679del, NC_000005.9:g.127462671_127462679del, NC_000005.9:g.127462672_127462679del, NC_000005.9:g.127462673_127462679del, NC_000005.9:g.127462674_127462679del, NC_000005.9:g.127462675_127462679del, NC_000005.9:g.127462676_127462679del, NC_000005.9:g.127462677_127462679del, NC_000005.9:g.127462678_127462679del, NC_000005.9:g.127462679del, NC_000005.9:g.127462679dup, NC_000005.9:g.127462678_127462679dup, NC_000005.9:g.127462677_127462679dup, NC_000005.9:g.127462676_127462679dup, NC_000005.9:g.127462675_127462679dup, NC_000005.9:g.127462674_127462679dup, NC_000005.9:g.127462673_127462679dup, NC_000005.9:g.127462672_127462679dup, NC_000005.9:g.127462671_127462679dup, NC_000005.9:g.127462670_127462679dup, NC_000005.9:g.127462669_127462679dup, NC_000005.9:g.127462667_127462679dup, NC_000005.9:g.127462679_127462680insTTTTTTTTTTTTTTTTTTTTTTTTTT, NG_042286.1:g.48188_48197del, NG_042286.1:g.48189_48197del, NG_042286.1:g.48190_48197del, NG_042286.1:g.48191_48197del, NG_042286.1:g.48192_48197del, NG_042286.1:g.48193_48197del, NG_042286.1:g.48194_48197del, NG_042286.1:g.48195_48197del, NG_042286.1:g.48196_48197del, NG_042286.1:g.48197del, NG_042286.1:g.48197dup, NG_042286.1:g.48196_48197dup, NG_042286.1:g.48195_48197dup, NG_042286.1:g.48194_48197dup, NG_042286.1:g.48193_48197dup, NG_042286.1:g.48192_48197dup, NG_042286.1:g.48191_48197dup, NG_042286.1:g.48190_48197dup, NG_042286.1:g.48189_48197dup, NG_042286.1:g.48188_48197dup, NG_042286.1:g.48187_48197dup, NG_042286.1:g.48185_48197dup, NG_042286.1:g.48197_48198insTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 149108937116.

rs1491089371 has merged into rs58191870 [Homo sapiens]

Variant type:: DELINS
Alleles:: GTGTGTGTGTGTGTGT>-,GT,GTGT,GTGTGT,GTGTGTGT,GTGTGTGTGT,GTGTGTGTGTGT,GTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT [Show Flanks]
Chromosome:: 5:128088025 (GRCh38)
5:127423717 (GRCh37)
Canonical SPDI:: NC_000005.10:128088007:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGT,NC_000005.10:128088007:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGT,NC_000005.10:128088007:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGT,NC_000005.10:128088007:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:128088007:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:128088007:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:128088007:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:128088007:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:128088007:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:128088007:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:128088007:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:128088007:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:128088007:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:128088007:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:128088007:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:128088007:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:128088007:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:128088007:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:128088007:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:128088007:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:128088007:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:128088007:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:128088007:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT,NC_000005.10:128088007:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT
Gene:: SLC12A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTGT=0./0 (ALFA)
HGVS:: NC_000005.10:g.128088009GT[8], NC_000005.10:g.128088009GT[9], NC_000005.10:g.128088009GT[10], NC_000005.10:g.128088009GT[11], NC_000005.10:g.128088009GT[12], NC_000005.10:g.128088009GT[13], NC_000005.10:g.128088009GT[14], NC_000005.10:g.128088009GT[15], NC_000005.10:g.128088009GT[17], NC_000005.10:g.128088009GT[18], NC_000005.10:g.128088009GT[19], NC_000005.10:g.128088009GT[20], NC_000005.10:g.128088009GT[21], NC_000005.10:g.128088009GT[22], NC_000005.10:g.128088009GT[23], NC_000005.10:g.128088009GT[24], NC_000005.10:g.128088009GT[25], NC_000005.10:g.128088009GT[26], NC_000005.10:g.128088009GT[27], NC_000005.10:g.128088009GT[28], NC_000005.10:g.128088009GT[29], NC_000005.10:g.128088009GT[30], NC_000005.10:g.128088009GT[31], NC_000005.10:g.128088009GT[32], NC_000005.9:g.127423701GT[8], NC_000005.9:g.127423701GT[9], NC_000005.9:g.127423701GT[10], NC_000005.9:g.127423701GT[11], NC_000005.9:g.127423701GT[12], NC_000005.9:g.127423701GT[13], NC_000005.9:g.127423701GT[14], NC_000005.9:g.127423701GT[15], NC_000005.9:g.127423701GT[17], NC_000005.9:g.127423701GT[18], NC_000005.9:g.127423701GT[19], NC_000005.9:g.127423701GT[20], NC_000005.9:g.127423701GT[21], NC_000005.9:g.127423701GT[22], NC_000005.9:g.127423701GT[23], NC_000005.9:g.127423701GT[24], NC_000005.9:g.127423701GT[25], NC_000005.9:g.127423701GT[26], NC_000005.9:g.127423701GT[27], NC_000005.9:g.127423701GT[28], NC_000005.9:g.127423701GT[29], NC_000005.9:g.127423701GT[30], NC_000005.9:g.127423701GT[31], NC_000005.9:g.127423701GT[32], NG_042286.1:g.9219GT[8], NG_042286.1:g.9219GT[9], NG_042286.1:g.9219GT[10], NG_042286.1:g.9219GT[11], NG_042286.1:g.9219GT[12], NG_042286.1:g.9219GT[13], NG_042286.1:g.9219GT[14], NG_042286.1:g.9219GT[15], NG_042286.1:g.9219GT[17], NG_042286.1:g.9219GT[18], NG_042286.1:g.9219GT[19], NG_042286.1:g.9219GT[20], NG_042286.1:g.9219GT[21], NG_042286.1:g.9219GT[22], NG_042286.1:g.9219GT[23], NG_042286.1:g.9219GT[24], NG_042286.1:g.9219GT[25], NG_042286.1:g.9219GT[26], NG_042286.1:g.9219GT[27], NG_042286.1:g.9219GT[28], NG_042286.1:g.9219GT[29], NG_042286.1:g.9219GT[30], NG_042286.1:g.9219GT[31], NG_042286.1:g.9219GT[32]

Select item 149099892717.

rs1490998927 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:128108126 (GRCh38)
5:127443818 (GRCh37)
Canonical SPDI:: NC_000005.10:128108125:G:A
Gene:: SLC12A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000005.10:g.128108126G>A, NC_000005.9:g.127443818G>A, NG_042286.1:g.29336G>A

Select item 149098350418.

rs1490983504 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 5:128144310 (GRCh38)
5:127480002 (GRCh37)
Canonical SPDI:: NC_000005.10:128144309:C:T
Gene:: SLC12A2 (Varview)
Functional Consequence:: downstream_transcript_variant,intron_variant,genic_downstream_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_000005.10:g.128144310C>T, NC_000005.9:g.127480002C>T, NG_042286.1:g.65520C>T

Select item 149093520619.

rs1490935206 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 5:128128052 (GRCh38)
5:127463744 (GRCh37)
Canonical SPDI:: NC_000005.10:128128051:G:A
Gene:: SLC12A2 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000014/2 (GnomAD)
A=0.000019/5 (TOPMED)
HGVS:: NC_000005.10:g.128128052G>A, NC_000005.9:g.127463744G>A, NG_042286.1:g.49262G>A

Select item 149091672520.

rs1490916725 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 5:128115922 (GRCh38)
5:127451614 (GRCh37)
Canonical SPDI:: NC_000005.10:128115921:T:G
Gene:: SLC12A2 (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_000005.10:g.128115922T>G, NC_000005.9:g.127451614T>G, NG_042286.1:g.37132T>G

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