SNP Links for Nucleotide (Select 1315370214) - SNP - NCBI

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Links from Nucleotide

Items: 2

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 14914562422.

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

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