SNP Links for Gene (Select 9542) - SNP

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Select item 14915476971.

rs1491547697 has merged into rs67854211 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAAA>-,A,AA,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:139927775 (GRCh38)
5:139307360 (GRCh37)
Canonical SPDI:: NC_000005.10:139927764:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAA,NC_000005.10:139927764:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAA,NC_000005.10:139927764:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:139927764:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:139927764:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:139927764:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:139927764:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:139927764:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:139927764:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:139927764:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:139927764:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAA,NC_000005.10:139927764:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139927764:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139927764:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139927764:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139927764:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139927764:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139927764:AAAAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NRG2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAA=0./0 (ALFA)
-=0.10067/388 (ALSPAC)
HGVS:: NC_000005.10:g.139927775_139927786del, NC_000005.10:g.139927776_139927786del, NC_000005.10:g.139927777_139927786del, NC_000005.10:g.139927778_139927786del, NC_000005.10:g.139927779_139927786del, NC_000005.10:g.139927780_139927786del, NC_000005.10:g.139927781_139927786del, NC_000005.10:g.139927782_139927786del, NC_000005.10:g.139927783_139927786del, NC_000005.10:g.139927784_139927786del, NC_000005.10:g.139927785_139927786del, NC_000005.10:g.139927786del, NC_000005.10:g.139927786dup, NC_000005.10:g.139927785_139927786dup, NC_000005.10:g.139927784_139927786dup, NC_000005.10:g.139927783_139927786dup, NC_000005.10:g.139927781_139927786dup, NC_000005.10:g.139927779_139927786dup, NC_000005.9:g.139307360_139307371del, NC_000005.9:g.139307361_139307371del, NC_000005.9:g.139307362_139307371del, NC_000005.9:g.139307363_139307371del, NC_000005.9:g.139307364_139307371del, NC_000005.9:g.139307365_139307371del, NC_000005.9:g.139307366_139307371del, NC_000005.9:g.139307367_139307371del, NC_000005.9:g.139307368_139307371del, NC_000005.9:g.139307369_139307371del, NC_000005.9:g.139307370_139307371del, NC_000005.9:g.139307371del, NC_000005.9:g.139307371dup, NC_000005.9:g.139307370_139307371dup, NC_000005.9:g.139307369_139307371dup, NC_000005.9:g.139307368_139307371dup, NC_000005.9:g.139307366_139307371dup, NC_000005.9:g.139307364_139307371dup

Select item 14915298712.

rs1491529871 has merged into rs1175422454 [Homo sapiens]

Variant type:: DELINS
Alleles:: AA>-,A,AAA [Show Flanks]
Chromosome:: 5:139938890 (GRCh38)
5:139318475 (GRCh37)
Canonical SPDI:: NC_000005.10:139938888:AAA:A,NC_000005.10:139938888:AAA:AA,NC_000005.10:139938888:AAA:AAAA
Gene:: NRG2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
-=0.000116/3 (TOMMO)
HGVS:: NC_000005.10:g.139938890_139938891del, NC_000005.10:g.139938891del, NC_000005.10:g.139938891dup, NC_000005.9:g.139318475_139318476del, NC_000005.9:g.139318476del, NC_000005.9:g.139318476dup

Select item 14915008383.

rs1491500838 [Homo sapiens]

Variant type:: DELINS
Alleles:: TC>- [Show Flanks]
Chromosome:: 5:139864780 (GRCh38)
5:139244365 (GRCh37)
Canonical SPDI:: NC_000005.10:139864778:CTC:C
Gene:: NRG2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.00177/21 (ALFA)
-=0.002859/390 (GnomAD)
-=0.003123/20 (1000Genomes)
HGVS:: NC_000005.10:g.139864780_139864781del, NC_000005.9:g.139244365_139244366del

Select item 14914775154.

rs1491477515 [Homo sapiens]

Variant type:: DEL
Alleles:: CT>- [Show Flanks]
Chromosome:: 5:139867762 (GRCh38)
5:139247347 (GRCh37)
Canonical SPDI:: NC_000005.10:139867761:CT:
Gene:: NRG2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by cluster
MAF:: -=0.0169/65 (ALSPAC)
-=0.017/63 (TWINSUK)
HGVS:: NC_000005.10:g.139867762_139867763del, NC_000005.9:g.139247347_139247348del

Select item 14914594415.

rs1491459441 has merged into rs70988722 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTGTGTGTGTGTGTGTGTGTGTG>-,TG,TGTG,TGTGTG,TGTGTGTG,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 5:139957326 (GRCh38)
5:139336911 (GRCh37)
Canonical SPDI:: NC_000005.10:139957307:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTG,NC_000005.10:139957307:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTG,NC_000005.10:139957307:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:139957307:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:139957307:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:139957307:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:139957307:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:139957307:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:139957307:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:139957307:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:139957307:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:139957307:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:139957307:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:139957307:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:139957307:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:139957307:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:139957307:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:139957307:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:139957307:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:139957307:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:139957307:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: NRG2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TGTGTGTGTGTGTGTGTG=0./0 (ALFA)
HGVS:: NC_000005.10:g.139957308TG[9], NC_000005.10:g.139957308TG[10], NC_000005.10:g.139957308TG[11], NC_000005.10:g.139957308TG[12], NC_000005.10:g.139957308TG[13], NC_000005.10:g.139957308TG[14], NC_000005.10:g.139957308TG[15], NC_000005.10:g.139957308TG[16], NC_000005.10:g.139957308TG[17], NC_000005.10:g.139957308TG[18], NC_000005.10:g.139957308TG[19], NC_000005.10:g.139957308TG[20], NC_000005.10:g.139957308TG[21], NC_000005.10:g.139957308TG[22], NC_000005.10:g.139957308TG[24], NC_000005.10:g.139957308TG[25], NC_000005.10:g.139957308TG[26], NC_000005.10:g.139957308TG[27], NC_000005.10:g.139957308TG[28], NC_000005.10:g.139957308TG[29], NC_000005.10:g.139957308TG[31], NC_000005.9:g.139336893TG[9], NC_000005.9:g.139336893TG[10], NC_000005.9:g.139336893TG[11], NC_000005.9:g.139336893TG[12], NC_000005.9:g.139336893TG[13], NC_000005.9:g.139336893TG[14], NC_000005.9:g.139336893TG[15], NC_000005.9:g.139336893TG[16], NC_000005.9:g.139336893TG[17], NC_000005.9:g.139336893TG[18], NC_000005.9:g.139336893TG[19], NC_000005.9:g.139336893TG[20], NC_000005.9:g.139336893TG[21], NC_000005.9:g.139336893TG[22], NC_000005.9:g.139336893TG[24], NC_000005.9:g.139336893TG[25], NC_000005.9:g.139336893TG[26], NC_000005.9:g.139336893TG[27], NC_000005.9:g.139336893TG[28], NC_000005.9:g.139336893TG[29], NC_000005.9:g.139336893TG[31]

Select item 14914392006.

rs1491439200 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CTT,CTTTCTT,CTTTCTTTCTT [Show Flanks]
Chromosome:: 5:139890474 (GRCh38)
5:139270060 (GRCh37)
Canonical SPDI:: NC_000005.10:139890474:TT:TTCTT,NC_000005.10:139890474:TT:TTCTTTCTT,NC_000005.10:139890474:TT:TTCTTTCTTTCTT
Gene:: NRG2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTCTTTCTT=0./0 (ALFA)
TTC=0.00042/7 (TOMMO)
HGVS:: NC_000005.10:g.139890476_139890477insCTT, NC_000005.10:g.139890475_139890476TTCT[2]T[1], NC_000005.10:g.139890475_139890476TTCT[3]T[1], NC_000005.9:g.139270061_139270062insCTT, NC_000005.9:g.139270060_139270061TTCT[2]T[1], NC_000005.9:g.139270060_139270061TTCT[3]T[1]

Select item 14914383667.

rs1491438366 has merged into rs1202470798 [Homo sapiens]

Variant type:: DELINS
Alleles:: TGTGTGTGTGTGTGTGTGTGTGTG>-,TGTGTGTGTG,TGTGTGTGTGTG,TGTGTGTGTGTGTG,TGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,TGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG [Show Flanks]
Chromosome:: 5:139867813 (GRCh38)
5:139247398 (GRCh37)
Canonical SPDI:: NC_000005.10:139867801:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTG,NC_000005.10:139867801:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTG,NC_000005.10:139867801:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:139867801:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:139867801:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:139867801:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:139867801:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:139867801:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:139867801:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:139867801:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:139867801:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:139867801:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:139867801:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:139867801:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG,NC_000005.10:139867801:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG:GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTG
Gene:: NRG2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GTGTGTGTGTGTGTGTGTGTG=0./0 (ALFA)
HGVS:: NC_000005.10:g.139867803TG[5], NC_000005.10:g.139867803TG[10], NC_000005.10:g.139867803TG[11], NC_000005.10:g.139867803TG[12], NC_000005.10:g.139867803TG[13], NC_000005.10:g.139867803TG[14], NC_000005.10:g.139867803TG[15], NC_000005.10:g.139867803TG[16], NC_000005.10:g.139867803TG[18], NC_000005.10:g.139867803TG[19], NC_000005.10:g.139867803TG[20], NC_000005.10:g.139867803TG[21], NC_000005.10:g.139867803TG[22], NC_000005.10:g.139867803TG[23], NC_000005.10:g.139867803TG[24], NC_000005.9:g.139247388TG[5], NC_000005.9:g.139247388TG[10], NC_000005.9:g.139247388TG[11], NC_000005.9:g.139247388TG[12], NC_000005.9:g.139247388TG[13], NC_000005.9:g.139247388TG[14], NC_000005.9:g.139247388TG[15], NC_000005.9:g.139247388TG[16], NC_000005.9:g.139247388TG[18], NC_000005.9:g.139247388TG[19], NC_000005.9:g.139247388TG[20], NC_000005.9:g.139247388TG[21], NC_000005.9:g.139247388TG[22], NC_000005.9:g.139247388TG[23], NC_000005.9:g.139247388TG[24]

Select item 14914310188.

rs1491431018 has merged into rs11288649 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTTT>-,T,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTT,TTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:139890483 (GRCh38)
5:139270068 (GRCh37)
Canonical SPDI:: NC_000005.10:139890473:TTTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000005.10:139890473:TTTTTTTTTTTTTTTTT:TTTTTTTTTT,NC_000005.10:139890473:TTTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:139890473:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:139890473:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:139890473:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:139890473:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:139890473:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTT,NC_000005.10:139890473:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:139890473:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:139890473:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139890473:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139890473:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139890473:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139890473:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139890473:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139890473:TTTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NRG2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTT=0./0 (ALFA)
T=0.0523/262 (1000Genomes)
HGVS:: NC_000005.10:g.139890483_139890490del, NC_000005.10:g.139890484_139890490del, NC_000005.10:g.139890485_139890490del, NC_000005.10:g.139890486_139890490del, NC_000005.10:g.139890487_139890490del, NC_000005.10:g.139890488_139890490del, NC_000005.10:g.139890489_139890490del, NC_000005.10:g.139890490del, NC_000005.10:g.139890490dup, NC_000005.10:g.139890488_139890490dup, NC_000005.10:g.139890487_139890490dup, NC_000005.10:g.139890486_139890490dup, NC_000005.10:g.139890484_139890490dup, NC_000005.10:g.139890482_139890490dup, NC_000005.10:g.139890479_139890490dup, NC_000005.10:g.139890476_139890490dup, NC_000005.10:g.139890490_139890491insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT, NC_000005.9:g.139270068_139270075del, NC_000005.9:g.139270069_139270075del, NC_000005.9:g.139270070_139270075del, NC_000005.9:g.139270071_139270075del, NC_000005.9:g.139270072_139270075del, NC_000005.9:g.139270073_139270075del, NC_000005.9:g.139270074_139270075del, NC_000005.9:g.139270075del, NC_000005.9:g.139270075dup, NC_000005.9:g.139270073_139270075dup, NC_000005.9:g.139270072_139270075dup, NC_000005.9:g.139270071_139270075dup, NC_000005.9:g.139270069_139270075dup, NC_000005.9:g.139270067_139270075dup, NC_000005.9:g.139270064_139270075dup, NC_000005.9:g.139270061_139270075dup, NC_000005.9:g.139270075_139270076insTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTT

Select item 14914214209.

rs1491421420 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 5:139939261 (GRCh38)
5:139318847 (GRCh37)
Canonical SPDI:: NC_000005.10:139939261:T:TCT
Gene:: NRG2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: TCT=0./0 (ALFA)
TC=0.000008/2 (TOPMED)
HGVS:: NC_000005.10:g.139939262_139939263insCT, NC_000005.9:g.139318847_139318848insCT

Select item 149139779710.

rs1491397797 [Homo sapiens]

Variant type:: DELINS
Alleles:: GA>- [Show Flanks]
Chromosome:: 5:139938964 (GRCh38)
5:139318549 (GRCh37)
Canonical SPDI:: NC_000005.10:139938962:AGA:A
Gene:: NRG2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
HGVS:: NC_000005.10:g.139938964_139938965del, NC_000005.9:g.139318549_139318550del

Select item 149138369611.

rs1491383696 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->AT [Show Flanks]
Chromosome:: 5:139867802 (GRCh38)
5:139247388 (GRCh37)
Canonical SPDI:: NC_000005.10:139867802:T:TAT
Gene:: NRG2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TAT=0./0 (ALFA)
HGVS:: NC_000005.10:g.139867803_139867804insAT, NC_000005.9:g.139247388_139247389insAT

Select item 149131685312.

rs1491316853 has merged into rs1401951529 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAGG>-,AAGGAAGG [Show Flanks]
Chromosome:: 5:139938973 (GRCh38)
5:139318558 (GRCh37)
Canonical SPDI:: NC_000005.10:139938963:GAAGGAAGGAAGG:GAAGGAAGG,NC_000005.10:139938963:GAAGGAAGGAAGG:GAAGGAAGGAAGGAAGG
Gene:: NRG2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: GAAGGAAGGAAGGAAGG=0./0 (ALFA)
GAAG=0.000761/97 (GnomAD)
HGVS:: NC_000005.10:g.139938965AAGG[2], NC_000005.10:g.139938965AAGG[4], NC_000005.9:g.139318550AAGG[2], NC_000005.9:g.139318550AAGG[4]

Select item 149129917513.

rs1491299175 [Homo sapiens]

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

Select item 149128703914.

rs1491287039 has merged into rs59868638 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTT>-,T,TT,TTT,TTTTTT [Show Flanks]
Chromosome:: 5:139939262 (GRCh38)
5:139318847 (GRCh37)
Canonical SPDI:: NC_000005.10:139939260:TTTTT:T,NC_000005.10:139939260:TTTTT:TT,NC_000005.10:139939260:TTTTT:TTT,NC_000005.10:139939260:TTTTT:TTTT,NC_000005.10:139939260:TTTTT:TTTTTTT
Gene:: NRG2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTT=0./0 (ALFA)
-=0.02167/13 (NorthernSweden)
-=0.16762/646 (ALSPAC)
HGVS:: NC_000005.10:g.139939262_139939265del, NC_000005.10:g.139939263_139939265del, NC_000005.10:g.139939264_139939265del, NC_000005.10:g.139939265del, NC_000005.10:g.139939264_139939265dup, NC_000005.9:g.139318847_139318850del, NC_000005.9:g.139318848_139318850del, NC_000005.9:g.139318849_139318850del, NC_000005.9:g.139318850del, NC_000005.9:g.139318849_139318850dup

Select item 149124106315.

rs1491241063 [Homo sapiens]

Variant type:: DEL
Alleles:: CA>- [Show Flanks]
Chromosome:: 5:139922070 (GRCh38)
5:139301655 (GRCh37)
Canonical SPDI:: NC_000005.10:139922069:CA:
Gene:: NRG2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa
MAF:: -=0.00008/1 (ALFA)
HGVS:: NC_000005.10:g.139922070_139922071del, NC_000005.9:g.139301655_139301656del

Select item 149123644116.

rs1491236441 has merged into rs954495131 [Homo sapiens]

Variant type:: DELINS
Alleles:: TTTTTTT>-,TT,TTT,TTTT,TTTTT,TTTTTT,TTTTTTTT,TTTTTTTTT,TTTTTTTTTT,TTTTTTTTTTT,TTTTTTTTTTTT,TTTTTTTTTTTTT,TTTTTTTTTTTTTTTTTT [Show Flanks]
Chromosome:: 5:139864395 (GRCh38)
5:139243980 (GRCh37)
Canonical SPDI:: NC_000005.10:139864385:TTTTTTTTTTTTTTTT:TTTTTTTTT,NC_000005.10:139864385:TTTTTTTTTTTTTTTT:TTTTTTTTTTT,NC_000005.10:139864385:TTTTTTTTTTTTTTTT:TTTTTTTTTTTT,NC_000005.10:139864385:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTT,NC_000005.10:139864385:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTT,NC_000005.10:139864385:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTT,NC_000005.10:139864385:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTT,NC_000005.10:139864385:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTT,NC_000005.10:139864385:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTT,NC_000005.10:139864385:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTT,NC_000005.10:139864385:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139864385:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTT,NC_000005.10:139864385:TTTTTTTTTTTTTTTT:TTTTTTTTTTTTTTTTTTTTTTTTTTT
Gene:: NRG2 (Varview)
Functional Consequence:: genic_downstream_transcript_variant,intron_variant
Validated:: by frequency,by alfa,by cluster
MAF:: TTTTTTTTTTTT=0./0 (ALFA)
-=0.000015/4 (TOPMED)
-=0.01/6 (NorthernSweden)
HGVS:: NC_000005.10:g.139864395_139864401del, NC_000005.10:g.139864397_139864401del, NC_000005.10:g.139864398_139864401del, NC_000005.10:g.139864399_139864401del, NC_000005.10:g.139864400_139864401del, NC_000005.10:g.139864401del, NC_000005.10:g.139864401dup, NC_000005.10:g.139864400_139864401dup, NC_000005.10:g.139864399_139864401dup, NC_000005.10:g.139864398_139864401dup, NC_000005.10:g.139864397_139864401dup, NC_000005.10:g.139864396_139864401dup, NC_000005.10:g.139864391_139864401dup, NC_000005.9:g.139243980_139243986del, NC_000005.9:g.139243982_139243986del, NC_000005.9:g.139243983_139243986del, NC_000005.9:g.139243984_139243986del, NC_000005.9:g.139243985_139243986del, NC_000005.9:g.139243986del, NC_000005.9:g.139243986dup, NC_000005.9:g.139243985_139243986dup, NC_000005.9:g.139243984_139243986dup, NC_000005.9:g.139243983_139243986dup, NC_000005.9:g.139243982_139243986dup, NC_000005.9:g.139243981_139243986dup, NC_000005.9:g.139243976_139243986dup

Select item 149119018917.

rs1491190189 [Homo sapiens]

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

Select item 149117044518.

rs1491170445 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->CT [Show Flanks]
Chromosome:: 5:139864386 (GRCh38)
5:139243972 (GRCh37)
Canonical SPDI:: NC_000005.10:139864386:T:TCT
Gene:: NRG2 (Varview)
Functional Consequence:: intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: TCT=0./0 (ALFA)
TC=0.00002/2 (GnomAD)
HGVS:: NC_000005.10:g.139864387_139864388insCT, NC_000005.9:g.139243972_139243973insCT

Select item 149108617119.

rs1491086171 has merged into rs58053481 [Homo sapiens]

Variant type:: DELINS
Alleles:: AAAAAAAAAAA>-,AAA,AAAA,AAAAA,AAAAAA,AAAAAAA,AAAAAAAA,AAAAAAAAA,AAAAAAAAAA,AAAAAAAAAAAA,AAAAAAAAAAAAA,AAAAAAAAAAAAAA,AAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAATAATAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAAATTAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAAAATTAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,AAAAAAAAAAAAAACCTTATATGTAGAAGGAAAAGGGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA [Show Flanks]
Chromosome:: 5:139973166 (GRCh38)
5:139352751 (GRCh37)
Canonical SPDI:: NC_000005.10:139973156:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAA,NC_000005.10:139973156:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAA,NC_000005.10:139973156:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAA,NC_000005.10:139973156:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAA,NC_000005.10:139973156:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAA,NC_000005.10:139973156:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAA,NC_000005.10:139973156:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAA,NC_000005.10:139973156:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAA,NC_000005.10:139973156:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAA,NC_000005.10:139973156:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139973156:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139973156:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139973156:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139973156:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139973156:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139973156:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139973156:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139973156:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139973156:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139973156:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139973156:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139973156:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139973156:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139973156:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139973156:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139973156:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139973156:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139973156:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139973156:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAATAATAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139973156:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAAATTAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139973156:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAAAATTAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA,NC_000005.10:139973156:AAAAAAAAAAAAAAAAAAAA:AAAAAAAAAAAAAAAAAAAAAAACCTTATATGTAGAAGGAAAAGGGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA
Gene:: NRG2 (Varview)
Functional Consequence:: intron_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: AAAAAAAAAAAAA=0./0 (ALFA)
HGVS:: NC_000005.10:g.139973166_139973176del, NC_000005.10:g.139973169_139973176del, NC_000005.10:g.139973170_139973176del, NC_000005.10:g.139973171_139973176del, NC_000005.10:g.139973172_139973176del, NC_000005.10:g.139973173_139973176del, NC_000005.10:g.139973174_139973176del, NC_000005.10:g.139973175_139973176del, NC_000005.10:g.139973176del, NC_000005.10:g.139973176dup, NC_000005.10:g.139973175_139973176dup, NC_000005.10:g.139973174_139973176dup, NC_000005.10:g.139973173_139973176dup, NC_000005.10:g.139973172_139973176dup, NC_000005.10:g.139973171_139973176dup, NC_000005.10:g.139973170_139973176dup, NC_000005.10:g.139973169_139973176dup, NC_000005.10:g.139973166_139973176dup, NC_000005.10:g.139973163_139973176dup, NC_000005.10:g.139973162_139973176dup, NC_000005.10:g.139973161_139973176dup, NC_000005.10:g.139973159_139973176dup, NC_000005.10:g.139973158_139973176dup, NC_000005.10:g.139973157_139973176dup, NC_000005.10:g.139973176_139973177insAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.139973176_139973177insAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.139973176_139973177insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.139973176_139973177insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.10:g.139973157_139973176A[26]TAA[2]A[13]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.10:g.139973157_139973176A[26]TTAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.10:g.139973157_139973176A[25]TTAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.10:g.139973157_139973176A[23]CCTTATATGTAGAAGGAAAAGGGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.9:g.139352751_139352761del, NC_000005.9:g.139352754_139352761del, NC_000005.9:g.139352755_139352761del, NC_000005.9:g.139352756_139352761del, NC_000005.9:g.139352757_139352761del, NC_000005.9:g.139352758_139352761del, NC_000005.9:g.139352759_139352761del, NC_000005.9:g.139352760_139352761del, NC_000005.9:g.139352761del, NC_000005.9:g.139352761dup, NC_000005.9:g.139352760_139352761dup, NC_000005.9:g.139352759_139352761dup, NC_000005.9:g.139352758_139352761dup, NC_000005.9:g.139352757_139352761dup, NC_000005.9:g.139352756_139352761dup, NC_000005.9:g.139352755_139352761dup, NC_000005.9:g.139352754_139352761dup, NC_000005.9:g.139352751_139352761dup, NC_000005.9:g.139352748_139352761dup, NC_000005.9:g.139352747_139352761dup, NC_000005.9:g.139352746_139352761dup, NC_000005.9:g.139352744_139352761dup, NC_000005.9:g.139352743_139352761dup, NC_000005.9:g.139352742_139352761dup, NC_000005.9:g.139352761_139352762insAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.139352761_139352762insAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.139352761_139352762insAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.139352761_139352762insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA, NC_000005.9:g.139352742_139352761A[26]TAA[2]A[13]GAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.9:g.139352742_139352761A[26]TTAAAAAAAAAAAAAAAAGAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.9:g.139352742_139352761A[25]TTAAAATAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1], NC_000005.9:g.139352742_139352761A[23]CCTTATATGTAGAAGGAAAAGGGGTAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA[1]

Select item 149108471820.

rs1491084718 [Homo sapiens]

Variant type:: DELINS
Alleles:: AT>- [Show Flanks]
Chromosome:: 5:139867798 (GRCh38)
5:139247383 (GRCh37)
Canonical SPDI:: NC_000005.10:139867796:TAT:T
Gene:: NRG2 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,intron_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.010959/130 (ALFA)
-=0.000674/71 (GnomAD)
-=0.007709/128 (TOMMO)
HGVS:: NC_000005.10:g.139867798_139867799del, NC_000005.9:g.139247383_139247384del

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