SNP Links for Gene (Select 57139) - SNP

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Select item 14915541341.

rs1491554134 [Homo sapiens]

Variant type:: INS
Alleles:: ->CACC,CC,CCTT [Show Flanks]
Chromosome:: 19:11414307 (GRCh38)
19:11524984 (GRCh37)
Canonical SPDI:: NC_000019.10:11414307::CACC,NC_000019.10:11414307::CC,NC_000019.10:11414307::CCTT
Gene:: RGL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CC=0./0 (ALFA)
HGVS:: NC_000019.10:g.11414307_11414308insCACC, NC_000019.10:g.11414307_11414308insCC, NC_000019.10:g.11414307_11414308insCCTT, NC_000019.9:g.11524983_11524984insCACC, NC_000019.9:g.11524983_11524984insCC, NC_000019.9:g.11524983_11524984insCCTT

Select item 14915411082.

rs1491541108 [Homo sapiens]

Variant type:: SNV:
Alleles:: ->CATATATATATATACCTTCATCTATATATA
Chromosome:: no mapping
Canonical SPDI:

Select item 14915207453.

rs1491520745 has merged into rs1169850022 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:11396170 (GRCh38)
19:11506846 (GRCh37)
Canonical SPDI:: NC_000019.10:11396158:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:11396158:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:11396158:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:11396158:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:11396158:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:11396158:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:11396158:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:11396158:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:11396158:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000019.10:11396158:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:11396158:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:11396158:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:11396158:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:11396158:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:11396158:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:11396158:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:11396158:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:11396158:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:11396158:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:11396158:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:11396158:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:11396158:TTTTTTTTTTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RGL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTT=0./0 (ALFA)
HGVS:: NC_000019.10:g.11396170_11396186del, NC_000019.10:g.11396172_11396186del, NC_000019.10:g.11396173_11396186del, NC_000019.10:g.11396174_11396186del, NC_000019.10:g.11396175_11396186del, NC_000019.10:g.11396176_11396186del, NC_000019.10:g.11396177_11396186del, NC_000019.10:g.11396178_11396186del, NC_000019.10:g.11396179_11396186del, NC_000019.10:g.11396180_11396186del, NC_000019.10:g.11396181_11396186del, NC_000019.10:g.11396182_11396186del, NC_000019.10:g.11396183_11396186del, NC_000019.10:g.11396184_11396186del, NC_000019.10:g.11396185_11396186del, NC_000019.10:g.11396186del, NC_000019.10:g.11396186dup, NC_000019.10:g.11396185_11396186dup, NC_000019.10:g.11396184_11396186dup, NC_000019.10:g.11396183_11396186dup, NC_000019.10:g.11396182_11396186dup, NC_000019.10:g.11396180_11396186dup, NC_000019.9:g.11506846_11506862del, NC_000019.9:g.11506848_11506862del, NC_000019.9:g.11506849_11506862del, NC_000019.9:g.11506850_11506862del, NC_000019.9:g.11506851_11506862del, NC_000019.9:g.11506852_11506862del, NC_000019.9:g.11506853_11506862del, NC_000019.9:g.11506854_11506862del, NC_000019.9:g.11506855_11506862del, NC_000019.9:g.11506856_11506862del, NC_000019.9:g.11506857_11506862del, NC_000019.9:g.11506858_11506862del, NC_000019.9:g.11506859_11506862del, NC_000019.9:g.11506860_11506862del, NC_000019.9:g.11506861_11506862del, NC_000019.9:g.11506862del, NC_000019.9:g.11506862dup, NC_000019.9:g.11506861_11506862dup, NC_000019.9:g.11506860_11506862dup, NC_000019.9:g.11506859_11506862dup, NC_000019.9:g.11506858_11506862dup, NC_000019.9:g.11506856_11506862dup

Select item 14915188274.

rs1491518827 has merged into rs1226288918 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATA>-,TA,TATA,TATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA [Show Flanks]
Chromosome:: 19:11414476 (GRCh38)
19:11525152 (GRCh37)
Canonical SPDI:: NC_000019.10:11414464:ATATATATATATATATATA:ATATATATATA,NC_000019.10:11414464:ATATATATATATATATATA:ATATATATATATA,NC_000019.10:11414464:ATATATATATATATATATA:ATATATATATATATA,NC_000019.10:11414464:ATATATATATATATATATA:ATATATATATATATATA,NC_000019.10:11414464:ATATATATATATATATATA:ATATATATATATATATATATA,NC_000019.10:11414464:ATATATATATATATATATA:ATATATATATATATATATATATA,NC_000019.10:11414464:ATATATATATATATATATA:ATATATATATATATATATATATATA,NC_000019.10:11414464:ATATATATATATATATATA:ATATATATATATATATATATATATATA,NC_000019.10:11414464:ATATATATATATATATATA:ATATATATATATATATATATATATATATA,NC_000019.10:11414464:ATATATATATATATATATA:ATATATATATATATATATATATATATATATA
Gene:: RGL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATA=0./0 (ALFA)
HGVS:: NC_000019.10:g.11414466TA[5], NC_000019.10:g.11414466TA[6], NC_000019.10:g.11414466TA[7], NC_000019.10:g.11414466TA[8], NC_000019.10:g.11414466TA[10], NC_000019.10:g.11414466TA[11], NC_000019.10:g.11414466TA[12], NC_000019.10:g.11414466TA[13], NC_000019.10:g.11414466TA[14], NC_000019.10:g.11414466TA[15], NC_000019.9:g.11525142TA[5], NC_000019.9:g.11525142TA[6], NC_000019.9:g.11525142TA[7], NC_000019.9:g.11525142TA[8], NC_000019.9:g.11525142TA[10], NC_000019.9:g.11525142TA[11], NC_000019.9:g.11525142TA[12], NC_000019.9:g.11525142TA[13], NC_000019.9:g.11525142TA[14], NC_000019.9:g.11525142TA[15]

Select item 14915064755.

rs1491506475 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:11414134 (GRCh38)
19:11524810 (GRCh37)
Canonical SPDI:: NC_000019.10:11414133:CA:
Gene:: RGL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: -=0./0 (ALFA)
-=0.00003/1 (GnomAD)
HGVS:: NC_000019.10:g.11414134_11414135del, NC_000019.9:g.11524810_11524811del

Select item 14914900116.

rs1491490011 has merged into rs58510644 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA,TATATATA [Show Flanks]
Chromosome:: 19:11414316 (GRCh38)
19:11524992 (GRCh37)
Canonical SPDI:: NC_000019.10:11414306:ATATATATATATA:ATATATATA,NC_000019.10:11414306:ATATATATATATA:ATATATATATA,NC_000019.10:11414306:ATATATATATATA:ATATATATATATATA,NC_000019.10:11414306:ATATATATATATA:ATATATATATATATATA
Gene:: RGL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATA=0./0 (ALFA)
-=0.00867/98 (TOMMO)
HGVS:: NC_000019.10:g.11414308TA[4], NC_000019.10:g.11414308TA[5], NC_000019.10:g.11414308TA[7], NC_000019.10:g.11414308TA[8], NC_000019.9:g.11524984TA[4], NC_000019.9:g.11524984TA[5], NC_000019.9:g.11524984TA[7], NC_000019.9:g.11524984TA[8]

Select item 14914848877.

rs1491484887 has merged into rs57200960 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTT>-,T,TT,TTTT,TTTTT [Show Flanks]
Chromosome:: 19:11405907 (GRCh38)
19:11516583 (GRCh37)
Canonical SPDI:: NC_000019.10:11405895:TTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:11405895:TTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:11405895:TTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:11405895:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:11405895:TTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT
Gene:: RGL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTTT=0./0 (ALFA)
-=0.03934/197 (1000Genomes)
HGVS:: NC_000019.10:g.11405907_11405909del, NC_000019.10:g.11405908_11405909del, NC_000019.10:g.11405909del, NC_000019.10:g.11405909dup, NC_000019.10:g.11405908_11405909dup, NC_000019.9:g.11516583_11516585del, NC_000019.9:g.11516584_11516585del, NC_000019.9:g.11516585del, NC_000019.9:g.11516585dup, NC_000019.9:g.11516584_11516585dup

Select item 14914458808.

rs1491445880 has merged into rs1405224348 [Homo sapiens]

Variant type:: DELINS
Alleles:: TT>-,T,TTT,TTTT,TTTTT [Show Flanks]
Chromosome:: 19:11395940 (GRCh38)
19:11506616 (GRCh37)
Canonical SPDI:: NC_000019.10:11395929:TTTTTTTTTTTT:TTTTTTTTTT,NC_000019.10:11395929:TTTTTTTTTTTT:TTTTTTTTTTT,NC_000019.10:11395929:TTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:11395929:TTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000019.10:11395929:TTTTTTTTTTTT:TTTTTTTTTTTTTTT
Gene:: RGL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTTTTT=0./0 (ALFA)
TTT=0.000004/1 (TOPMED)
-=0.001243/21 (TOMMO)
-=0.020263/37 (Korea1K)
HGVS:: NC_000019.10:g.11395940_11395941del, NC_000019.10:g.11395941del, NC_000019.10:g.11395941dup, NC_000019.10:g.11395940_11395941dup, NC_000019.10:g.11395939_11395941dup, NC_000019.9:g.11506616_11506617del, NC_000019.9:g.11506617del, NC_000019.9:g.11506617dup, NC_000019.9:g.11506616_11506617dup, NC_000019.9:g.11506615_11506617dup

Select item 14914303399.

rs1491430339 has merged into rs56098998 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATATATATATATATATATATATATATATATATATA>-,TA,TATA,TATATA,TATATATA,TATATATATA,TATATATATATA,TATATATATATATA,TATATATATATATATA,TATATATATATATATATA,TATATATATATATATATATA,TATATATATATATATATATATA,TATATATATATATATATATATATA,TATATATATATATATATATATATATA,TATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATA,TATATATATATATATATATATATATATATATATATATATATATA [Show Flanks]
Chromosome:: 19:11414142 (GRCh38)
19:11524818 (GRCh37)
Canonical SPDI:: NC_000019.10:11414134:ATATATATATATATATATATATATATATATATATATATATATA:ATATATA,NC_000019.10:11414134:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATA,NC_000019.10:11414134:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATA,NC_000019.10:11414134:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATA,NC_000019.10:11414134:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATA,NC_000019.10:11414134:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATA,NC_000019.10:11414134:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATA,NC_000019.10:11414134:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATA,NC_000019.10:11414134:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATA,NC_000019.10:11414134:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATA,NC_000019.10:11414134:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATA,NC_000019.10:11414134:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATA,NC_000019.10:11414134:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATA,NC_000019.10:11414134:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATA,NC_000019.10:11414134:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATA,NC_000019.10:11414134:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATA,NC_000019.10:11414134:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATA,NC_000019.10:11414134:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATA,NC_000019.10:11414134:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATA,NC_000019.10:11414134:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATA,NC_000019.10:11414134:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATA,NC_000019.10:11414134:ATATATATATATATATATATATATATATATATATATATATATA:ATATATATATATATATATATATATATATATATATATATATATATATATATA
Gene:: RGL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATA=0./0 (ALFA)
HGVS:: NC_000019.10:g.11414136TA[3], NC_000019.10:g.11414136TA[4], NC_000019.10:g.11414136TA[5], NC_000019.10:g.11414136TA[6], NC_000019.10:g.11414136TA[7], NC_000019.10:g.11414136TA[8], NC_000019.10:g.11414136TA[9], NC_000019.10:g.11414136TA[10], NC_000019.10:g.11414136TA[11], NC_000019.10:g.11414136TA[12], NC_000019.10:g.11414136TA[13], NC_000019.10:g.11414136TA[14], NC_000019.10:g.11414136TA[15], NC_000019.10:g.11414136TA[16], NC_000019.10:g.11414136TA[17], NC_000019.10:g.11414136TA[18], NC_000019.10:g.11414136TA[19], NC_000019.10:g.11414136TA[20], NC_000019.10:g.11414136TA[22], NC_000019.10:g.11414136TA[23], NC_000019.10:g.11414136TA[24], NC_000019.10:g.11414136TA[25], NC_000019.9:g.11524812TA[3], NC_000019.9:g.11524812TA[4], NC_000019.9:g.11524812TA[5], NC_000019.9:g.11524812TA[6], NC_000019.9:g.11524812TA[7], NC_000019.9:g.11524812TA[8], NC_000019.9:g.11524812TA[9], NC_000019.9:g.11524812TA[10], NC_000019.9:g.11524812TA[11], NC_000019.9:g.11524812TA[12], NC_000019.9:g.11524812TA[13], NC_000019.9:g.11524812TA[14], NC_000019.9:g.11524812TA[15], NC_000019.9:g.11524812TA[16], NC_000019.9:g.11524812TA[17], NC_000019.9:g.11524812TA[18], NC_000019.9:g.11524812TA[19], NC_000019.9:g.11524812TA[20], NC_000019.9:g.11524812TA[22], NC_000019.9:g.11524812TA[23], NC_000019.9:g.11524812TA[24], NC_000019.9:g.11524812TA[25]

Select item 149134182510.

rs1491341825 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 19:11414324 (GRCh38)
19:11525000 (GRCh37)
Canonical SPDI:: NC_000019.10:11414323:CA:
Gene:: RGL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00936/111 (ALFA)
HGVS:: NC_000019.10:g.11414324_11414325del, NC_000019.9:g.11525000_11525001del

Select item 149128296011.

rs1491282960 has merged into rs60359390 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA,TATATATA [Show Flanks]
Chromosome:: 19:11414336 (GRCh38)
19:11525012 (GRCh37)
Canonical SPDI:: NC_000019.10:11414324:ATATATATATATATA:ATATATATATA,NC_000019.10:11414324:ATATATATATATATA:ATATATATATATA,NC_000019.10:11414324:ATATATATATATATA:ATATATATATATATATA,NC_000019.10:11414324:ATATATATATATATA:ATATATATATATATATATA
Gene:: RGL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATATA=0./0 (ALFA)
-=0.00441/2 (NorthernSweden)
-=0.07843/8 (Vietnamese)
-=0.14177/710 (1000Genomes)
HGVS:: NC_000019.10:g.11414326TA[5], NC_000019.10:g.11414326TA[6], NC_000019.10:g.11414326TA[8], NC_000019.10:g.11414326TA[9], NC_000019.9:g.11525002TA[5], NC_000019.9:g.11525002TA[6], NC_000019.9:g.11525002TA[8], NC_000019.9:g.11525002TA[9]

Select item 149125204712.

rs1491252047 [Homo sapiens]

Variant type:: DEL
Alleles:: AT>- [Show Flanks]
Chromosome:: 19:11405895 (GRCh38)
19:11516571 (GRCh37)
Canonical SPDI:: NC_000019.10:11405894:AT:
Gene:: RGL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000008/1 (GnomAD)
HGVS:: NC_000019.10:g.11405895_11405896del, NC_000019.9:g.11516571_11516572del

Select item 149120192713.

rs1491201927 [Homo sapiens]

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

Select item 149119496014.

rs1491194960 [Homo sapiens]

Variant type:: INS
Alleles:: ->A,ATA,ATATA,ATATATA,ATATATATA,ATATATATATA,ATATATATATATA,ATATC [Show Flanks]
Chromosome:: 19:11396159 (GRCh38)
19:11506836 (GRCh37)
Canonical SPDI:: NC_000019.10:11396159::A,NC_000019.10:11396159::ATA,NC_000019.10:11396159::ATATA,NC_000019.10:11396159::ATATATA,NC_000019.10:11396159::ATATATATA,NC_000019.10:11396159::ATATATATATA,NC_000019.10:11396159::ATATATATATATA,NC_000019.10:11396159::ATATC
Gene:: RGL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATA=0./0 (ALFA)
HGVS:: NC_000019.10:g.11396159_11396160insA, NC_000019.10:g.11396159_11396160insATA, NC_000019.10:g.11396159_11396160insATATA, NC_000019.10:g.11396159_11396160insATATATA, NC_000019.10:g.11396159_11396160insATATATATA, NC_000019.10:g.11396159_11396160insATATATATATA, NC_000019.10:g.11396159_11396160insATATATATATATA, NC_000019.10:g.11396159_11396160insATATC, NC_000019.9:g.11506835_11506836insA, NC_000019.9:g.11506835_11506836insATA, NC_000019.9:g.11506835_11506836insATATA, NC_000019.9:g.11506835_11506836insATATATA, NC_000019.9:g.11506835_11506836insATATATATA, NC_000019.9:g.11506835_11506836insATATATATATA, NC_000019.9:g.11506835_11506836insATATATATATATA, NC_000019.9:g.11506835_11506836insATATC

Select item 149112637915.

rs1491126379 [Homo sapiens]

Variant type:: INS
Alleles:: ->CCTT [Show Flanks]
Chromosome:: 19:11414447 (GRCh38)
19:11525124 (GRCh37)
Canonical SPDI:: NC_000019.10:11414447::CCTT
Gene:: RGL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: CCTT=0./0 (ALFA)
CCTT=0.00002/1 (GnomAD)
HGVS:: NC_000019.10:g.11414447_11414448insCCTT, NC_000019.9:g.11525123_11525124insCCTT

Select item 149111434316.

rs1491114343 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TACA,TACACA,TATACA,TATATACA,TATATATATATATATATACA,TATATATATATATATATATACA [Show Flanks]
Chromosome:: 19:11414176 (GRCh38)
19:11524853 (GRCh37)
Canonical SPDI:: NC_000019.10:11414176:A:ATACA,NC_000019.10:11414176:A:ATACACA,NC_000019.10:11414176:A:ATATACA,NC_000019.10:11414176:A:ATATATACA,NC_000019.10:11414176:A:ATATATATATATATATATACA,NC_000019.10:11414176:A:ATATATATATATATATATATACA
Gene:: RGL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATACACA=0./0 (ALFA)
HGVS:: NC_000019.10:g.11414177_11414178insTACA, NC_000019.10:g.11414177_11414178insTACACA, NC_000019.10:g.11414177AT[2]ACA[1], NC_000019.10:g.11414177AT[3]ACA[1], NC_000019.10:g.11414177AT[9]ACA[1], NC_000019.10:g.11414177AT[10]ACA[1], NC_000019.9:g.11524853_11524854insTACA, NC_000019.9:g.11524853_11524854insTACACA, NC_000019.9:g.11524853AT[2]ACA[1], NC_000019.9:g.11524853AT[3]ACA[1], NC_000019.9:g.11524853AT[9]ACA[1], NC_000019.9:g.11524853AT[10]ACA[1]

Select item 149110589017.

rs1491105890 has merged into rs578086951 [Homo sapiens]

Variant type:: DELINS
Alleles:: TATA>-,TA,TATATA,TATATATA,TATATATATA [Show Flanks]
Chromosome:: 19:11414456 (GRCh38)
19:11525132 (GRCh37)
Canonical SPDI:: NC_000019.10:11414446:ATATATATATATA:ATATATATA,NC_000019.10:11414446:ATATATATATATA:ATATATATATA,NC_000019.10:11414446:ATATATATATATA:ATATATATATATATA,NC_000019.10:11414446:ATATATATATATA:ATATATATATATATATA,NC_000019.10:11414446:ATATATATATATA:ATATATATATATATATATA
Gene:: RGL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: ATATATATATA=0./0 (ALFA)
AT=0.1454/728 (1000Genomes)
HGVS:: NC_000019.10:g.11414448TA[4], NC_000019.10:g.11414448TA[5], NC_000019.10:g.11414448TA[7], NC_000019.10:g.11414448TA[8], NC_000019.10:g.11414448TA[9], NC_000019.9:g.11525124TA[4], NC_000019.9:g.11525124TA[5], NC_000019.9:g.11525124TA[7], NC_000019.9:g.11525124TA[8], NC_000019.9:g.11525124TA[9]

Select item 149108187718.

rs1491081877 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->TACA [Show Flanks]
Chromosome:: 19:11414210 (GRCh38)
19:11524887 (GRCh37)
Canonical SPDI:: NC_000019.10:11414210:A:ATACA
Gene:: RGL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa
MAF:: ATACA=0.00008/1 (ALFA)
ATAC=0.00001/1 (GnomAD)
HGVS:: NC_000019.10:g.11414211_11414212insTACA, NC_000019.9:g.11524887_11524888insTACA

Select item 149100640819.

rs1491006408 has merged into rs143904966 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTTTTTT>-,TTTT,TTTTT,TTTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 19:11416225 (GRCh38)
19:11526901 (GRCh37)
Canonical SPDI:: NC_000019.10:11416216:TTTTTTTTTTTTTTTTTTTT:TTTTTTTT,NC_000019.10:11416216:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000019.10:11416216:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000019.10:11416216:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000019.10:11416216:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000019.10:11416216:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000019.10:11416216:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000019.10:11416216:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000019.10:11416216:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000019.10:11416216:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:11416216:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTT,NC_000019.10:11416216:TTTTTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: RGL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTT=0./0 (ALFA)
TTTTT=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.11416225_11416236del, NC_000019.10:g.11416229_11416236del, NC_000019.10:g.11416230_11416236del, NC_000019.10:g.11416232_11416236del, NC_000019.10:g.11416233_11416236del, NC_000019.10:g.11416234_11416236del, NC_000019.10:g.11416235_11416236del, NC_000019.10:g.11416236del, NC_000019.10:g.11416236dup, NC_000019.10:g.11416235_11416236dup, NC_000019.10:g.11416234_11416236dup, NC_000019.10:g.11416232_11416236dup, NC_000019.9:g.11526909_11526910dup, NC_000019.9:g.11526901_11526910del, NC_000019.9:g.11526905_11526910del, NC_000019.9:g.11526906_11526910del, NC_000019.9:g.11526908_11526910del, NC_000019.9:g.11526909_11526910del, NC_000019.9:g.11526910del, NC_000019.9:g.11526910dup, NC_000019.9:g.11526908_11526910dup, NC_000019.9:g.11526907_11526910dup, NC_000019.9:g.11526906_11526910dup, NC_000019.9:g.11526904_11526910dup

Select item 149086337020.

rs1490863370 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:11417980 (GRCh38)
19:11528656 (GRCh37)
Canonical SPDI:: NC_000019.10:11417979:A:C
Gene:: RGL3 (Varview)
Functional Consequence:: intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.11417980A>C, NC_000019.9:g.11528656A>C

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